#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
ORPHA:349	FUCA1	2517	HP:0000943	Dysostosis multiplex
ORPHA:349	FUCA1	2517	HP:0008430	Anterior beaking of lumbar vertebrae
ORPHA:349	FUCA1	2517	HP:0002808	Kyphosis
ORPHA:349	FUCA1	2517	HP:0000975	Hyperhidrosis
ORPHA:349	FUCA1	2517	HP:0001250	Seizures
ORPHA:349	FUCA1	2517	HP:0007957	Corneal opacity
ORPHA:349	FUCA1	2517	HP:0000821	Hypothyroidism
ORPHA:349	FUCA1	2517	HP:0001508	Failure to thrive
ORPHA:349	FUCA1	2517	HP:0010864	Intellectual disability, severe
ORPHA:349	FUCA1	2517	HP:0003199	Decreased muscle mass
ORPHA:349	FUCA1	2517	HP:0001263	Global developmental delay
ORPHA:349	FUCA1	2517	HP:0001252	Muscular hypotonia
ORPHA:349	FUCA1	2517	HP:0005264	Abnormality of the gallbladder
ORPHA:349	FUCA1	2517	HP:0000365	Hearing impairment
ORPHA:349	FUCA1	2517	HP:0002240	Hepatomegaly
ORPHA:349	FUCA1	2517	HP:0005595	Generalized hyperkeratosis
ORPHA:349	FUCA1	2517	HP:0011220	Prominent forehead
ORPHA:349	FUCA1	2517	HP:0008155	Mucopolysacchariduria
ORPHA:349	FUCA1	2517	HP:0011276	Vascular skin abnormality
ORPHA:349	FUCA1	2517	HP:0100578	Lipoatrophy
ORPHA:349	FUCA1	2517	HP:0000248	Brachycephaly
ORPHA:349	FUCA1	2517	HP:0002510	Spastic tetraplegia
ORPHA:349	FUCA1	2517	HP:0000280	Coarse facial features
ORPHA:1334	IL17RC	84818	HP:0001231	Abnormality of the fingernails
ORPHA:1334	IL17RC	84818	HP:0008388	Abnormal toenail morphology
ORPHA:1334	IL17RC	84818	HP:0010783	Erythema
ORPHA:1334	IL17RC	84818	HP:0100825	Cheilitis
ORPHA:1334	IL17RC	84818	HP:0000988	Skin rash
ORPHA:1334	IL17RC	84818	HP:0200042	Skin ulcer
ORPHA:1334	IL17RC	84818	HP:0030016	Dyspareunia
ORPHA:1334	IL17RC	84818	HP:0001821	Broad nail
ORPHA:1334	IL17RC	84818	HP:0000142	Abnormality of the vagina
ORPHA:1334	IL17RC	84818	HP:0000962	Hyperkeratosis
ORPHA:1334	IL17RC	84818	HP:0200034	Papule
ORPHA:1334	CLEC7A	64581	HP:0001231	Abnormality of the fingernails
ORPHA:1334	CLEC7A	64581	HP:0008388	Abnormal toenail morphology
ORPHA:1334	CLEC7A	64581	HP:0010783	Erythema
ORPHA:1334	CLEC7A	64581	HP:0100825	Cheilitis
ORPHA:1334	CLEC7A	64581	HP:0000988	Skin rash
ORPHA:1334	CLEC7A	64581	HP:0200042	Skin ulcer
ORPHA:1334	CLEC7A	64581	HP:0030016	Dyspareunia
ORPHA:1334	CLEC7A	64581	HP:0001821	Broad nail
ORPHA:1334	CLEC7A	64581	HP:0000142	Abnormality of the vagina
ORPHA:1334	CLEC7A	64581	HP:0000962	Hyperkeratosis
ORPHA:1334	CLEC7A	64581	HP:0200034	Papule
ORPHA:1334	IL17RA	23765	HP:0001231	Abnormality of the fingernails
ORPHA:1334	IL17RA	23765	HP:0008388	Abnormal toenail morphology
ORPHA:1334	IL17RA	23765	HP:0010783	Erythema
ORPHA:1334	IL17RA	23765	HP:0100825	Cheilitis
ORPHA:1334	IL17RA	23765	HP:0000988	Skin rash
ORPHA:1334	IL17RA	23765	HP:0200042	Skin ulcer
ORPHA:1334	IL17RA	23765	HP:0030016	Dyspareunia
ORPHA:1334	IL17RA	23765	HP:0001821	Broad nail
ORPHA:1334	IL17RA	23765	HP:0000142	Abnormality of the vagina
ORPHA:1334	IL17RA	23765	HP:0000962	Hyperkeratosis
ORPHA:1334	IL17RA	23765	HP:0200034	Papule
ORPHA:1334	TRAF3IP2	10758	HP:0001231	Abnormality of the fingernails
ORPHA:1334	TRAF3IP2	10758	HP:0008388	Abnormal toenail morphology
ORPHA:1334	TRAF3IP2	10758	HP:0010783	Erythema
ORPHA:1334	TRAF3IP2	10758	HP:0100825	Cheilitis
ORPHA:1334	TRAF3IP2	10758	HP:0000988	Skin rash
ORPHA:1334	TRAF3IP2	10758	HP:0200042	Skin ulcer
ORPHA:1334	TRAF3IP2	10758	HP:0030016	Dyspareunia
ORPHA:1334	TRAF3IP2	10758	HP:0001821	Broad nail
ORPHA:1334	TRAF3IP2	10758	HP:0000142	Abnormality of the vagina
ORPHA:1334	TRAF3IP2	10758	HP:0000962	Hyperkeratosis
ORPHA:1334	TRAF3IP2	10758	HP:0200034	Papule
ORPHA:1334	IL17F	112744	HP:0001231	Abnormality of the fingernails
ORPHA:1334	IL17F	112744	HP:0008388	Abnormal toenail morphology
ORPHA:1334	IL17F	112744	HP:0010783	Erythema
ORPHA:1334	IL17F	112744	HP:0100825	Cheilitis
ORPHA:1334	IL17F	112744	HP:0000988	Skin rash
ORPHA:1334	IL17F	112744	HP:0200042	Skin ulcer
ORPHA:1334	IL17F	112744	HP:0030016	Dyspareunia
ORPHA:1334	IL17F	112744	HP:0001821	Broad nail
ORPHA:1334	IL17F	112744	HP:0000142	Abnormality of the vagina
ORPHA:1334	IL17F	112744	HP:0000962	Hyperkeratosis
ORPHA:1334	IL17F	112744	HP:0200034	Papule
ORPHA:93396	BMPR1B	658	HP:0004209	Clinodactyly of the 5th finger
ORPHA:93396	BMPR1B	658	HP:0001773	Short foot
ORPHA:93396	BMPR1B	658	HP:0009372	Type A2 brachydactyly
ORPHA:93396	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
ORPHA:93396	GDF5	8200	HP:0001773	Short foot
ORPHA:93396	GDF5	8200	HP:0009372	Type A2 brachydactyly
ORPHA:93396	BMP2	650	HP:0004209	Clinodactyly of the 5th finger
ORPHA:93396	BMP2	650	HP:0001773	Short foot
ORPHA:93396	BMP2	650	HP:0009372	Type A2 brachydactyly
OMIM:300813	SSX1	6756	HP:0001428	Somatic mutation
OMIM:300813	SSX1	6756	HP:0012570	Synovial sarcoma
OMIM:300813	SSX2	6757	HP:0001428	Somatic mutation
OMIM:300813	SSX2	6757	HP:0012570	Synovial sarcoma
OMIM:615686	AMPD2	271	HP:0001347	Hyperreflexia
OMIM:615686	AMPD2	271	HP:0012407	Scissor gait
OMIM:615686	AMPD2	271	HP:0001258	Spastic paraplegia
OMIM:615686	AMPD2	271	HP:0000007	Autosomal recessive inheritance
OMIM:615686	AMPD2	271	HP:0002518	Abnormality of the periventricular white matter
OMIM:275210	LMNA	4000	HP:0000418	Narrow nasal ridge
OMIM:275210	LMNA	4000	HP:0002089	Pulmonary hypoplasia
OMIM:275210	LMNA	4000	HP:0005253	Increased anterioposterior diameter of thorax
OMIM:275210	LMNA	4000	HP:0000695	Natal tooth
OMIM:275210	LMNA	4000	HP:0001788	Premature rupture of membranes
OMIM:275210	LMNA	4000	HP:0000073	Ureteral duplication
OMIM:275210	LMNA	4000	HP:0000377	Abnormality of the pinna
OMIM:275210	LMNA	4000	HP:0001799	Short nail
OMIM:275210	LMNA	4000	HP:0006645	Thin clavicles
OMIM:275210	LMNA	4000	HP:0000239	Large fontanelles
OMIM:275210	LMNA	4000	HP:0003826	Stillbirth
OMIM:275210	LMNA	4000	HP:0001631	Atrial septal defect
OMIM:275210	LMNA	4000	HP:0006391	Overtubulated long bones
OMIM:275210	LMNA	4000	HP:0006585	Congenital pseudoarthrosis of the clavicle
OMIM:275210	LMNA	4000	HP:0007543	Epidermal hyperkeratosis
OMIM:275210	LMNA	4000	HP:0000316	Hypertelorism
OMIM:275210	LMNA	4000	HP:0000047	Hypospadias
OMIM:275210	LMNA	4000	HP:0011414	Hydropic placenta
OMIM:275210	LMNA	4000	HP:0000347	Micrognathia
OMIM:275210	LMNA	4000	HP:0000653	Sparse eyelashes
OMIM:275210	LMNA	4000	HP:0001561	Polyhydramnios
OMIM:275210	LMNA	4000	HP:0002751	Kyphoscoliosis
OMIM:275210	LMNA	4000	HP:0007394	Prominent superficial blood vessels
OMIM:275210	LMNA	4000	HP:0012745	Short palpebral fissure
OMIM:275210	LMNA	4000	HP:0001196	Short umbilical cord
OMIM:275210	LMNA	4000	HP:0001511	Intrauterine growth retardation
OMIM:275210	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:275210	LMNA	4000	HP:0000453	Choanal atresia
OMIM:275210	LMNA	4000	HP:0001558	Decreased fetal movement
OMIM:275210	LMNA	4000	HP:0001643	Patent ductus arteriosus
OMIM:275210	LMNA	4000	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:275210	LMNA	4000	HP:0000176	Submucous cleft hard palate
OMIM:275210	LMNA	4000	HP:0200041	Skin erosion
OMIM:275210	LMNA	4000	HP:0001425	Heterogeneous
OMIM:275210	LMNA	4000	HP:0001838	Rocker bottom foot
OMIM:275210	LMNA	4000	HP:0000835	Adrenal hypoplasia
OMIM:275210	LMNA	4000	HP:0000160	Narrow mouth
OMIM:275210	LMNA	4000	HP:0000621	Entropion
OMIM:275210	LMNA	4000	HP:0000581	Blepharophimosis
OMIM:275210	LMNA	4000	HP:0005474	Decreased calvarial ossification
OMIM:275210	LMNA	4000	HP:0001622	Premature birth
OMIM:275210	LMNA	4000	HP:0000369	Low-set ears
OMIM:275210	LMNA	4000	HP:0001371	Flexion contracture
OMIM:275210	ZMPSTE24	10269	HP:0000418	Narrow nasal ridge
OMIM:275210	ZMPSTE24	10269	HP:0002089	Pulmonary hypoplasia
OMIM:275210	ZMPSTE24	10269	HP:0005253	Increased anterioposterior diameter of thorax
OMIM:275210	ZMPSTE24	10269	HP:0000695	Natal tooth
OMIM:275210	ZMPSTE24	10269	HP:0001788	Premature rupture of membranes
OMIM:275210	ZMPSTE24	10269	HP:0000073	Ureteral duplication
OMIM:275210	ZMPSTE24	10269	HP:0000377	Abnormality of the pinna
OMIM:275210	ZMPSTE24	10269	HP:0001799	Short nail
OMIM:275210	ZMPSTE24	10269	HP:0006645	Thin clavicles
OMIM:275210	ZMPSTE24	10269	HP:0000239	Large fontanelles
OMIM:275210	ZMPSTE24	10269	HP:0003826	Stillbirth
OMIM:275210	ZMPSTE24	10269	HP:0001631	Atrial septal defect
OMIM:275210	ZMPSTE24	10269	HP:0006391	Overtubulated long bones
OMIM:275210	ZMPSTE24	10269	HP:0006585	Congenital pseudoarthrosis of the clavicle
OMIM:275210	ZMPSTE24	10269	HP:0007543	Epidermal hyperkeratosis
OMIM:275210	ZMPSTE24	10269	HP:0000316	Hypertelorism
OMIM:275210	ZMPSTE24	10269	HP:0000047	Hypospadias
OMIM:275210	ZMPSTE24	10269	HP:0011414	Hydropic placenta
OMIM:275210	ZMPSTE24	10269	HP:0000347	Micrognathia
OMIM:275210	ZMPSTE24	10269	HP:0000653	Sparse eyelashes
OMIM:275210	ZMPSTE24	10269	HP:0001561	Polyhydramnios
OMIM:275210	ZMPSTE24	10269	HP:0002751	Kyphoscoliosis
OMIM:275210	ZMPSTE24	10269	HP:0007394	Prominent superficial blood vessels
OMIM:275210	ZMPSTE24	10269	HP:0012745	Short palpebral fissure
OMIM:275210	ZMPSTE24	10269	HP:0001196	Short umbilical cord
OMIM:275210	ZMPSTE24	10269	HP:0001511	Intrauterine growth retardation
OMIM:275210	ZMPSTE24	10269	HP:0000007	Autosomal recessive inheritance
OMIM:275210	ZMPSTE24	10269	HP:0000453	Choanal atresia
OMIM:275210	ZMPSTE24	10269	HP:0001558	Decreased fetal movement
OMIM:275210	ZMPSTE24	10269	HP:0001643	Patent ductus arteriosus
OMIM:275210	ZMPSTE24	10269	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:275210	ZMPSTE24	10269	HP:0000176	Submucous cleft hard palate
OMIM:275210	ZMPSTE24	10269	HP:0200041	Skin erosion
OMIM:275210	ZMPSTE24	10269	HP:0001425	Heterogeneous
OMIM:275210	ZMPSTE24	10269	HP:0001838	Rocker bottom foot
OMIM:275210	ZMPSTE24	10269	HP:0000835	Adrenal hypoplasia
OMIM:275210	ZMPSTE24	10269	HP:0000160	Narrow mouth
OMIM:275210	ZMPSTE24	10269	HP:0000621	Entropion
OMIM:275210	ZMPSTE24	10269	HP:0000581	Blepharophimosis
OMIM:275210	ZMPSTE24	10269	HP:0005474	Decreased calvarial ossification
OMIM:275210	ZMPSTE24	10269	HP:0001622	Premature birth
OMIM:275210	ZMPSTE24	10269	HP:0000369	Low-set ears
OMIM:275210	ZMPSTE24	10269	HP:0001371	Flexion contracture
OMIM:612518	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:612518	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAAF2	55172	HP:0012265	Ciliary dyskinesia
OMIM:612518	DNAAF2	55172	HP:0005938	Abnormal respiratory motile cilium morphology
OMIM:612518	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:612518	DNAAF2	55172	HP:0000389	Chronic otitis media
OMIM:607932	BMP4	652	HP:0000954	Single transverse palmar crease
OMIM:607932	BMP4	652	HP:0000193	Bifid uvula
OMIM:607932	BMP4	652	HP:0002188	Delayed CNS myelination
OMIM:607932	BMP4	652	HP:0000568	Microphthalmia
OMIM:607932	BMP4	652	HP:0001156	Brachydactyly
OMIM:607932	BMP4	652	HP:0000348	High forehead
OMIM:607932	BMP4	652	HP:0006829	Severe muscular hypotonia
OMIM:607932	BMP4	652	HP:0000006	Autosomal dominant inheritance
OMIM:607932	BMP4	652	HP:0000272	Malar flattening
OMIM:607932	BMP4	652	HP:0001770	Toe syndactyly
OMIM:607932	BMP4	652	HP:0030276	Small scrotum
OMIM:607932	BMP4	652	HP:0011800	Midface retrusion
OMIM:607932	BMP4	652	HP:0009909	Uplifted earlobe
OMIM:607932	BMP4	652	HP:0000400	Macrotia
OMIM:613180	TUBA8	51807	HP:0001263	Global developmental delay
OMIM:613180	TUBA8	51807	HP:0000609	Optic nerve hypoplasia
OMIM:613180	TUBA8	51807	HP:0001319	Neonatal hypotonia
OMIM:613180	TUBA8	51807	HP:0002187	Intellectual disability, profound
OMIM:613180	TUBA8	51807	HP:0000007	Autosomal recessive inheritance
OMIM:613180	TUBA8	51807	HP:0002126	Polymicrogyria
OMIM:613180	TUBA8	51807	HP:0001250	Seizures
OMIM:613180	TUBA8	51807	HP:0030048	Colpocephaly
OMIM:613180	TUBA8	51807	HP:0000252	Microcephaly
OMIM:613180	TUBA8	51807	HP:0002365	Hypoplasia of the brainstem
OMIM:613180	TUBA8	51807	HP:0001265	Hyporeflexia
OMIM:613180	TUBA8	51807	HP:0003577	Congenital onset
ORPHA:261190	MEIS2	4212	HP:0004322	Short stature
ORPHA:261190	MEIS2	4212	HP:0000252	Microcephaly
ORPHA:261190	MEIS2	4212	HP:0000322	Short philtrum
ORPHA:261190	MEIS2	4212	HP:0001249	Intellectual disability
ORPHA:261190	MEIS2	4212	HP:0000319	Smooth philtrum
ORPHA:261190	MEIS2	4212	HP:0000175	Cleft palate
ORPHA:261190	MEIS2	4212	HP:0004422	Biparietal narrowing
ORPHA:261190	MEIS2	4212	HP:0000307	Pointed chin
ORPHA:261190	MEIS2	4212	HP:0000341	Narrow forehead
ORPHA:261190	MEIS2	4212	HP:0000490	Deeply set eye
ORPHA:261190	MEIS2	4212	HP:0000750	Delayed speech and language development
ORPHA:261190	MEIS2	4212	HP:0001263	Global developmental delay
OMIM:614324	PSMC3IP	29893	HP:0000007	Autosomal recessive inheritance
OMIM:614324	PSMC3IP	29893	HP:0000786	Primary amenorrhea
OMIM:608572	TXNL4A	10907	HP:0000303	Mandibular prognathia
OMIM:608572	TXNL4A	10907	HP:0001629	Ventricular septal defect
OMIM:608572	TXNL4A	10907	HP:0000089	Renal hypoplasia
OMIM:608572	TXNL4A	10907	HP:0004691	2-3 toe syndactyly
OMIM:608572	TXNL4A	10907	HP:0000322	Short philtrum
OMIM:608572	TXNL4A	10907	HP:0000405	Conductive hearing impairment
OMIM:608572	TXNL4A	10907	HP:0000007	Autosomal recessive inheritance
OMIM:608572	TXNL4A	10907	HP:0001631	Atrial septal defect
OMIM:608572	TXNL4A	10907	HP:0000652	Lower eyelid coloboma
OMIM:608572	TXNL4A	10907	HP:0000426	Prominent nasal bridge
OMIM:608572	TXNL4A	10907	HP:0008872	Feeding difficulties in infancy
OMIM:608572	TXNL4A	10907	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608572	TXNL4A	10907	HP:0000430	Underdeveloped nasal alae
OMIM:608572	TXNL4A	10907	HP:0000384	Preauricular skin tag
OMIM:608572	TXNL4A	10907	HP:0000338	Hypomimic face
OMIM:608572	TXNL4A	10907	HP:0000347	Micrognathia
OMIM:608572	TXNL4A	10907	HP:0000411	Protruding ear
OMIM:608572	TXNL4A	10907	HP:0000581	Blepharophimosis
OMIM:608572	TXNL4A	10907	HP:0200138	Bilateral choanal atresia/stenosis
OMIM:608572	TXNL4A	10907	HP:0000316	Hypertelorism
OMIM:608572	TXNL4A	10907	HP:0012745	Short palpebral fissure
OMIM:608572	TXNL4A	10907	HP:0000204	Cleft upper lip
OMIM:608572	TXNL4A	10907	HP:0000233	Thin vermilion border
OMIM:608572	TXNL4A	10907	HP:0000160	Narrow mouth
OMIM:608572	TXNL4A	10907	HP:0000175	Cleft palate
OMIM:608572	TXNL4A	10907	HP:0000193	Bifid uvula
OMIM:608572	TXNL4A	10907	HP:0000453	Choanal atresia
OMIM:262700	LHX4	89884	HP:0001943	Hypoglycemia
OMIM:262700	LHX4	89884	HP:0000839	Pituitary dwarfism
OMIM:262700	LHX4	89884	HP:0000006	Autosomal dominant inheritance
OMIM:262700	LHX4	89884	HP:0003799	Marked delay in bone age
OMIM:262700	LHX4	89884	HP:0000846	Adrenal insufficiency
OMIM:262700	LHX4	89884	HP:0000007	Autosomal recessive inheritance
OMIM:262700	LHX4	89884	HP:0000821	Hypothyroidism
OMIM:262700	LHX4	89884	HP:0008850	Severe postnatal growth retardation
OMIM:614072	HPS3	84343	HP:0000639	Nystagmus
OMIM:614072	HPS3	84343	HP:0011883	Abnormal platelet granules
OMIM:614072	HPS3	84343	HP:0000505	Visual impairment
OMIM:614072	HPS3	84343	HP:0001892	Abnormal bleeding
OMIM:614072	HPS3	84343	HP:0000007	Autosomal recessive inheritance
OMIM:615938	CCND2	894	HP:0001263	Global developmental delay
OMIM:615938	CCND2	894	HP:0000256	Macrocephaly
OMIM:615938	CCND2	894	HP:0003577	Congenital onset
OMIM:615938	CCND2	894	HP:0011220	Prominent forehead
OMIM:615938	CCND2	894	HP:0001355	Megalencephaly
OMIM:615938	CCND2	894	HP:0002126	Polymicrogyria
OMIM:615938	CCND2	894	HP:0000238	Hydrocephalus
OMIM:615938	CCND2	894	HP:0000006	Autosomal dominant inheritance
OMIM:615938	CCND2	894	HP:0001162	Postaxial hand polydactyly
OMIM:615938	CCND2	894	HP:0002119	Ventriculomegaly
ORPHA:79473	PPOX	5498	HP:0001053	Hypopigmented skin patches
ORPHA:79473	PPOX	5498	HP:0008066	Abnormal blistering of the skin
ORPHA:79473	PPOX	5498	HP:0000963	Thin skin
ORPHA:79473	PPOX	5498	HP:0000992	Cutaneous photosensitivity
ORPHA:79473	PPOX	5498	HP:0100699	Scarring
ORPHA:319487	FOXE1	2304	HP:0006731	Follicular thyroid carcinoma
ORPHA:319487	FOXE1	2304	HP:0012288	Neoplasm of head and neck
ORPHA:319487	FOXE1	2304	HP:0002730	Chronic noninfectious lymphadenopathy
ORPHA:319487	FOXE1	2304	HP:0005994	Nodular goiter
ORPHA:319487	FOXE1	2304	HP:3000037	Abnormality of neck blood vessel
ORPHA:319487	HABP2	3026	HP:0006731	Follicular thyroid carcinoma
ORPHA:319487	HABP2	3026	HP:0012288	Neoplasm of head and neck
ORPHA:319487	HABP2	3026	HP:0002730	Chronic noninfectious lymphadenopathy
ORPHA:319487	HABP2	3026	HP:0005994	Nodular goiter
ORPHA:319487	HABP2	3026	HP:3000037	Abnormality of neck blood vessel
ORPHA:319487	MINPP1	9562	HP:0006731	Follicular thyroid carcinoma
ORPHA:319487	MINPP1	9562	HP:0012288	Neoplasm of head and neck
ORPHA:319487	MINPP1	9562	HP:0002730	Chronic noninfectious lymphadenopathy
ORPHA:319487	MINPP1	9562	HP:0005994	Nodular goiter
ORPHA:319487	MINPP1	9562	HP:3000037	Abnormality of neck blood vessel
OMIM:300539	AVPR2	554	HP:0012605	Hypernatriuria
OMIM:300539	AVPR2	554	HP:0002902	Hyponatremia
OMIM:300539	AVPR2	554	HP:0000737	Irritability
OMIM:300539	AVPR2	554	HP:0001250	Seizures
OMIM:300539	AVPR2	554	HP:0001419	X-linked recessive inheritance
OMIM:300539	AVPR2	554	HP:0004421	Elevated systolic blood pressure
OMIM:300539	AVPR2	554	HP:0003351	Decreased circulating renin level
OMIM:103285	TP63	8626	HP:0000963	Thin skin
OMIM:103285	TP63	8626	HP:0000691	Microdontia
OMIM:103285	TP63	8626	HP:0004334	Dermal atrophy
OMIM:103285	TP63	8626	HP:0002293	Alopecia of scalp
OMIM:103285	TP63	8626	HP:0000579	Nasolacrimal duct obstruction
OMIM:103285	TP63	8626	HP:0001480	Freckling
OMIM:103285	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:103285	TP63	8626	HP:0000968	Ectodermal dysplasia
OMIM:103285	TP63	8626	HP:0000992	Cutaneous photosensitivity
OMIM:103285	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:103285	TP63	8626	HP:0002561	Absent nipple
OMIM:103285	TP63	8626	HP:0006610	Wide intermamillary distance
OMIM:103285	TP63	8626	HP:0003187	Breast hypoplasia
OMIM:103285	TP63	8626	HP:0001803	Nail pits
OMIM:103285	TP63	8626	HP:0002209	Sparse scalp hair
OMIM:103285	TP63	8626	HP:0000964	Eczema
OMIM:103285	TP63	8626	HP:0000958	Dry skin
OMIM:103285	TP63	8626	HP:0000677	Oligodontia
OMIM:103285	TP63	8626	HP:0007455	Adermatoglyphia
OMIM:103285	TP63	8626	HP:0002286	Fair hair
OMIM:103285	TP63	8626	HP:0006357	Premature loss of permanent teeth
OMIM:103285	TP63	8626	HP:0001770	Toe syndactyly
OMIM:103285	TP63	8626	HP:0000202	Oral cleft
OMIM:103285	TP63	8626	HP:0000668	Hypodontia
OMIM:103285	TP63	8626	HP:0000509	Conjunctivitis
OMIM:103285	TP63	8626	HP:0001839	Split foot
OMIM:103285	TP63	8626	HP:0002215	Sparse axillary hair
OMIM:103285	TP63	8626	HP:0001171	Split hand
OMIM:616852	ACTA1	58	HP:0001771	Achilles tendon contracture
OMIM:616852	ACTA1	58	HP:0003828	Variable expressivity
OMIM:616852	ACTA1	58	HP:0001284	Areflexia
OMIM:616852	ACTA1	58	HP:0010628	Facial palsy
OMIM:616852	ACTA1	58	HP:0009025	Increased connective tissue
OMIM:616852	ACTA1	58	HP:0003677	Slow progression
OMIM:616852	ACTA1	58	HP:0003557	Increased variability in muscle fiber diameter
OMIM:616852	ACTA1	58	HP:0031189	Wrist drop
OMIM:616852	ACTA1	58	HP:0009130	Hand muscle atrophy
OMIM:616852	ACTA1	58	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:616852	ACTA1	58	HP:0009027	Foot dorsiflexor weakness
OMIM:616852	ACTA1	58	HP:0003307	Hyperlordosis
OMIM:616852	ACTA1	58	HP:0000006	Autosomal dominant inheritance
OMIM:616852	ACTA1	58	HP:0001265	Hyporeflexia
OMIM:616852	ACTA1	58	HP:0003323	Progressive muscle weakness
OMIM:616852	ACTA1	58	HP:0002650	Scoliosis
OMIM:616852	ACTA1	58	HP:0001315	Reduced tendon reflexes
OMIM:604286	SGCB	6443	HP:0008988	Pelvic girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0003691	Scapular winging
OMIM:604286	SGCB	6443	HP:0003560	Muscular dystrophy
OMIM:604286	SGCB	6443	HP:0003724	Shoulder girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0000007	Autosomal recessive inheritance
OMIM:604286	SGCB	6443	HP:0003236	Elevated serum creatine phosphokinase
OMIM:604286	SGCB	6443	HP:0003707	Calf muscle pseudohypertrophy
OMIM:604286	SGCB	6443	HP:0007126	Proximal amyotrophy
OMIM:604286	SGCB	6443	HP:0003325	Limb-girdle muscle weakness
OMIM:604286	SGCB	6443	HP:0003621	Juvenile onset
OMIM:614037	LTC4S	4056	HP:0001252	Muscular hypotonia
OMIM:614037	LTC4S	4056	HP:0001522	Death in infancy
OMIM:614037	LTC4S	4056	HP:0000252	Microcephaly
OMIM:614037	LTC4S	4056	HP:0000007	Autosomal recessive inheritance
OMIM:614037	LTC4S	4056	HP:0001531	Failure to thrive in infancy
OMIM:614037	LTC4S	4056	HP:0001263	Global developmental delay
ORPHA:83472	ZNF592	9640	HP:0001251	Ataxia
ORPHA:83472	ZNF592	9640	HP:0000252	Microcephaly
ORPHA:83472	ZNF592	9640	HP:0001249	Intellectual disability
ORPHA:83472	ZNF592	9640	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:83472	ZNF592	9640	HP:0001260	Dysarthria
ORPHA:83472	ZNF592	9640	HP:0001250	Seizures
ORPHA:83472	ZNF592	9640	HP:0001252	Muscular hypotonia
ORPHA:83472	ZNF592	9640	HP:0012444	Brain atrophy
ORPHA:83472	ZNF592	9640	HP:0000100	Nephrotic syndrome
ORPHA:83472	ZNF592	9640	HP:0000083	Renal insufficiency
ORPHA:83472	ZNF592	9640	HP:0007153	Progressive extrapyramidal movement disorder
ORPHA:83472	ZNF592	9640	HP:0000648	Optic atrophy
ORPHA:83472	ZNF592	9640	HP:0000951	Abnormality of the skin
ORPHA:83472	ZNF592	9640	HP:0001270	Motor delay
ORPHA:83472	ZNF592	9640	HP:0001257	Spasticity
ORPHA:83472	WDR73	84942	HP:0001251	Ataxia
ORPHA:83472	WDR73	84942	HP:0000252	Microcephaly
ORPHA:83472	WDR73	84942	HP:0001249	Intellectual disability
ORPHA:83472	WDR73	84942	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:83472	WDR73	84942	HP:0001260	Dysarthria
ORPHA:83472	WDR73	84942	HP:0001250	Seizures
ORPHA:83472	WDR73	84942	HP:0001252	Muscular hypotonia
ORPHA:83472	WDR73	84942	HP:0012444	Brain atrophy
ORPHA:83472	WDR73	84942	HP:0000100	Nephrotic syndrome
ORPHA:83472	WDR73	84942	HP:0000083	Renal insufficiency
ORPHA:83472	WDR73	84942	HP:0007153	Progressive extrapyramidal movement disorder
ORPHA:83472	WDR73	84942	HP:0000648	Optic atrophy
ORPHA:83472	WDR73	84942	HP:0000951	Abnormality of the skin
ORPHA:83472	WDR73	84942	HP:0001270	Motor delay
ORPHA:83472	WDR73	84942	HP:0001257	Spasticity
OMIM:251300	ZNF592	9640	HP:0000418	Narrow nasal ridge
OMIM:251300	ZNF592	9640	HP:0012385	Camptodactyly
OMIM:251300	ZNF592	9640	HP:0005484	Postnatal microcephaly
OMIM:251300	ZNF592	9640	HP:0001511	Intrauterine growth retardation
OMIM:251300	ZNF592	9640	HP:0001252	Muscular hypotonia
OMIM:251300	ZNF592	9640	HP:0000639	Nystagmus
OMIM:251300	ZNF592	9640	HP:0002036	Hiatus hernia
OMIM:251300	ZNF592	9640	HP:0002079	Hypoplasia of the corpus callosum
OMIM:251300	ZNF592	9640	HP:0000568	Microphthalmia
OMIM:251300	ZNF592	9640	HP:0002365	Hypoplasia of the brainstem
OMIM:251300	ZNF592	9640	HP:0000518	Cataract
OMIM:251300	ZNF592	9640	HP:0000486	Strabismus
OMIM:251300	ZNF592	9640	HP:0001302	Pachygyria
OMIM:251300	ZNF592	9640	HP:0001762	Talipes equinovarus
OMIM:251300	ZNF592	9640	HP:0001761	Pes cavus
OMIM:251300	ZNF592	9640	HP:0001347	Hyperreflexia
OMIM:251300	ZNF592	9640	HP:0003073	Hypoalbuminemia
OMIM:251300	ZNF592	9640	HP:0009473	Joint contracture of the hand
OMIM:251300	ZNF592	9640	HP:0000286	Epicanthus
OMIM:251300	ZNF592	9640	HP:0001263	Global developmental delay
OMIM:251300	ZNF592	9640	HP:0000154	Wide mouth
OMIM:251300	ZNF592	9640	HP:0000369	Low-set ears
OMIM:251300	ZNF592	9640	HP:0007759	Opacification of the corneal stroma
OMIM:251300	ZNF592	9640	HP:0001238	Slender finger
OMIM:251300	ZNF592	9640	HP:0001562	Oligohydramnios
OMIM:251300	ZNF592	9640	HP:0001792	Small nail
OMIM:251300	ZNF592	9640	HP:0005469	Flat occiput
OMIM:251300	ZNF592	9640	HP:0000340	Sloping forehead
OMIM:251300	ZNF592	9640	HP:0000448	Prominent nose
OMIM:251300	ZNF592	9640	HP:0000347	Micrognathia
OMIM:251300	ZNF592	9640	HP:0001188	Hand clenching
OMIM:251300	ZNF592	9640	HP:0000007	Autosomal recessive inheritance
OMIM:251300	ZNF592	9640	HP:0000400	Macrotia
OMIM:251300	ZNF592	9640	HP:0003593	Infantile onset
OMIM:251300	ZNF592	9640	HP:0000097	Focal segmental glomerulosclerosis
OMIM:251300	ZNF592	9640	HP:0000100	Nephrotic syndrome
OMIM:251300	ZNF592	9640	HP:0004322	Short stature
OMIM:251300	ZNF592	9640	HP:0000508	Ptosis
OMIM:251300	ZNF592	9640	HP:0000218	High palate
OMIM:251300	ZNF592	9640	HP:0000316	Hypertelorism
OMIM:251300	ZNF592	9640	HP:0001010	Hypopigmentation of the skin
OMIM:251300	ZNF592	9640	HP:0011800	Midface retrusion
OMIM:251300	ZNF592	9640	HP:0001967	Diffuse mesangial sclerosis
OMIM:251300	ZNF592	9640	HP:0001518	Small for gestational age
OMIM:251300	ZNF592	9640	HP:0007676	Hypoplasia of the iris
OMIM:251300	WDR73	84942	HP:0000418	Narrow nasal ridge
OMIM:251300	WDR73	84942	HP:0012385	Camptodactyly
OMIM:251300	WDR73	84942	HP:0005484	Postnatal microcephaly
OMIM:251300	WDR73	84942	HP:0001511	Intrauterine growth retardation
OMIM:251300	WDR73	84942	HP:0001252	Muscular hypotonia
OMIM:251300	WDR73	84942	HP:0000639	Nystagmus
OMIM:251300	WDR73	84942	HP:0002036	Hiatus hernia
OMIM:251300	WDR73	84942	HP:0002079	Hypoplasia of the corpus callosum
OMIM:251300	WDR73	84942	HP:0000568	Microphthalmia
OMIM:251300	WDR73	84942	HP:0002365	Hypoplasia of the brainstem
OMIM:251300	WDR73	84942	HP:0000518	Cataract
OMIM:251300	WDR73	84942	HP:0000486	Strabismus
OMIM:251300	WDR73	84942	HP:0001302	Pachygyria
OMIM:251300	WDR73	84942	HP:0001762	Talipes equinovarus
OMIM:251300	WDR73	84942	HP:0001761	Pes cavus
OMIM:251300	WDR73	84942	HP:0001347	Hyperreflexia
OMIM:251300	WDR73	84942	HP:0003073	Hypoalbuminemia
OMIM:251300	WDR73	84942	HP:0009473	Joint contracture of the hand
OMIM:251300	WDR73	84942	HP:0000286	Epicanthus
OMIM:251300	WDR73	84942	HP:0001263	Global developmental delay
OMIM:251300	WDR73	84942	HP:0000154	Wide mouth
OMIM:251300	WDR73	84942	HP:0000369	Low-set ears
OMIM:251300	WDR73	84942	HP:0007759	Opacification of the corneal stroma
OMIM:251300	WDR73	84942	HP:0001238	Slender finger
OMIM:251300	WDR73	84942	HP:0001562	Oligohydramnios
OMIM:251300	WDR73	84942	HP:0001792	Small nail
OMIM:251300	WDR73	84942	HP:0005469	Flat occiput
OMIM:251300	WDR73	84942	HP:0000340	Sloping forehead
OMIM:251300	WDR73	84942	HP:0000448	Prominent nose
OMIM:251300	WDR73	84942	HP:0000347	Micrognathia
OMIM:251300	WDR73	84942	HP:0001188	Hand clenching
OMIM:251300	WDR73	84942	HP:0000007	Autosomal recessive inheritance
OMIM:251300	WDR73	84942	HP:0000400	Macrotia
OMIM:251300	WDR73	84942	HP:0003593	Infantile onset
OMIM:251300	WDR73	84942	HP:0000097	Focal segmental glomerulosclerosis
OMIM:251300	WDR73	84942	HP:0000100	Nephrotic syndrome
OMIM:251300	WDR73	84942	HP:0004322	Short stature
OMIM:251300	WDR73	84942	HP:0000508	Ptosis
OMIM:251300	WDR73	84942	HP:0000218	High palate
OMIM:251300	WDR73	84942	HP:0000316	Hypertelorism
OMIM:251300	WDR73	84942	HP:0001010	Hypopigmentation of the skin
OMIM:251300	WDR73	84942	HP:0011800	Midface retrusion
OMIM:251300	WDR73	84942	HP:0001967	Diffuse mesangial sclerosis
OMIM:251300	WDR73	84942	HP:0001518	Small for gestational age
OMIM:251300	WDR73	84942	HP:0007676	Hypoplasia of the iris
OMIM:614098	KCNJ6	3763	HP:0000218	High palate
OMIM:614098	KCNJ6	3763	HP:0000252	Microcephaly
OMIM:614098	KCNJ6	3763	HP:0000347	Micrognathia
OMIM:614098	KCNJ6	3763	HP:0001371	Flexion contracture
OMIM:614098	KCNJ6	3763	HP:0001347	Hyperreflexia
OMIM:614098	KCNJ6	3763	HP:0007485	Absence of subcutaneous fat
OMIM:614098	KCNJ6	3763	HP:0001285	Spastic tetraparesis
OMIM:614098	KCNJ6	3763	HP:0000520	Proptosis
OMIM:614098	KCNJ6	3763	HP:0000006	Autosomal dominant inheritance
OMIM:614098	KCNJ6	3763	HP:0010804	Tented upper lip vermilion
OMIM:614098	KCNJ6	3763	HP:0001276	Hypertonia
OMIM:614098	KCNJ6	3763	HP:0005328	Progeroid facial appearance
OMIM:614098	KCNJ6	3763	HP:0010864	Intellectual disability, severe
OMIM:614098	KCNJ6	3763	HP:0000322	Short philtrum
OMIM:614098	KCNJ6	3763	HP:0002650	Scoliosis
OMIM:614098	KCNJ6	3763	HP:0001508	Failure to thrive
OMIM:614098	KCNJ6	3763	HP:0001090	Large eyes
OMIM:614098	KCNJ6	3763	HP:0009064	Generalized lipodystrophy
OMIM:614098	KCNJ6	3763	HP:0002705	High, narrow palate
OMIM:614098	KCNJ6	3763	HP:0000430	Underdeveloped nasal alae
OMIM:614098	KCNJ6	3763	HP:0000194	Open mouth
OMIM:131750	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:131750	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:131750	COL7A1	1294	HP:0008066	Abnormal blistering of the skin
OMIM:131750	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:131750	COL7A1	1294	HP:0001056	Milia
OMIM:131750	COL7A1	1294	HP:0003577	Congenital onset
OMIM:131750	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:245800	PNPLA6	10908	HP:0001258	Spastic paraplegia
OMIM:245800	PNPLA6	10908	HP:0000046	Scrotal hypoplasia
OMIM:245800	PNPLA6	10908	HP:0000580	Pigmentary retinopathy
OMIM:245800	PNPLA6	10908	HP:0001249	Intellectual disability
OMIM:245800	PNPLA6	10908	HP:0000054	Micropenis
OMIM:245800	PNPLA6	10908	HP:0001155	Abnormality of the hand
OMIM:245800	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:245800	PNPLA6	10908	HP:0001251	Ataxia
OMIM:245800	PNPLA6	10908	HP:0003812	Phenotypic variability
OMIM:245800	PNPLA6	10908	HP:0004322	Short stature
OMIM:245800	PNPLA6	10908	HP:0000639	Nystagmus
OMIM:612540	CNTN1	1272	HP:0001284	Areflexia
OMIM:612540	CNTN1	1272	HP:0009473	Joint contracture of the hand
OMIM:612540	CNTN1	1272	HP:0030799	Scaphocephaly
OMIM:612540	CNTN1	1272	HP:0010557	Overlapping fingers
OMIM:612540	CNTN1	1272	HP:0001518	Small for gestational age
OMIM:612540	CNTN1	1272	HP:0001561	Polyhydramnios
OMIM:612540	CNTN1	1272	HP:0001166	Arachnodactyly
OMIM:612540	CNTN1	1272	HP:0001319	Neonatal hypotonia
OMIM:612540	CNTN1	1272	HP:0002033	Poor suck
OMIM:612540	CNTN1	1272	HP:0002304	Akinesia
OMIM:612540	CNTN1	1272	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612540	CNTN1	1272	HP:0012385	Camptodactyly
OMIM:612540	CNTN1	1272	HP:0002705	High, narrow palate
OMIM:612540	CNTN1	1272	HP:0001989	Fetal akinesia sequence
OMIM:612540	CNTN1	1272	HP:0000316	Hypertelorism
OMIM:612540	CNTN1	1272	HP:0000007	Autosomal recessive inheritance
OMIM:612540	CNTN1	1272	HP:0000300	Oval face
OMIM:612540	CNTN1	1272	HP:0001522	Death in infancy
OMIM:608115	FSHR	2492	HP:0001541	Ascites
OMIM:608115	FSHR	2492	HP:0000006	Autosomal dominant inheritance
OMIM:608115	FSHR	2492	HP:0002018	Nausea
OMIM:608115	FSHR	2492	HP:0002027	Abdominal pain
OMIM:608115	FSHR	2492	HP:0000119	Abnormality of the genitourinary system
OMIM:606766	SLC26A8	116369	HP:0000006	Autosomal dominant inheritance
OMIM:617035	TFAP2B	7021	HP:0001643	Patent ductus arteriosus
OMIM:617035	TFAP2B	7021	HP:0000006	Autosomal dominant inheritance
OMIM:613158	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:613158	POMT2	29954	HP:0003712	Skeletal muscle hypertrophy
OMIM:613158	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613158	POMT2	29954	HP:0003593	Infantile onset
OMIM:613158	POMT2	29954	HP:0001270	Motor delay
OMIM:613158	POMT2	29954	HP:0003828	Variable expressivity
OMIM:613158	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613158	POMT2	29954	HP:0003560	Muscular dystrophy
ORPHA:896	PAX3	5077	HP:0100750	Atelectasis
ORPHA:896	PAX3	5077	HP:0000446	Narrow nasal bridge
ORPHA:896	PAX3	5077	HP:0000252	Microcephaly
ORPHA:896	PAX3	5077	HP:0011364	White hair
ORPHA:896	PAX3	5077	HP:0010804	Tented upper lip vermilion
ORPHA:896	PAX3	5077	HP:0000574	Thick eyebrow
ORPHA:896	PAX3	5077	HP:0000581	Blepharophimosis
ORPHA:896	PAX3	5077	HP:0010554	Cutaneous finger syndactyly
ORPHA:896	PAX3	5077	HP:0001387	Joint stiffness
ORPHA:896	PAX3	5077	HP:0000506	Telecanthus
ORPHA:896	PAX3	5077	HP:0000365	Hearing impairment
ORPHA:896	PAX3	5077	HP:0000494	Downslanted palpebral fissures
ORPHA:896	PAX3	5077	HP:0005048	Synostosis of carpal bones
OMIM:164280	MYCN	4613	HP:0001558	Decreased fetal movement
OMIM:164280	MYCN	4613	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:164280	MYCN	4613	HP:0000286	Epicanthus
OMIM:164280	MYCN	4613	HP:0001328	Specific learning disability
OMIM:164280	MYCN	4613	HP:0001748	Polysplenia
OMIM:164280	MYCN	4613	HP:0000325	Triangular face
OMIM:164280	MYCN	4613	HP:0000218	High palate
OMIM:164280	MYCN	4613	HP:0001643	Patent ductus arteriosus
OMIM:164280	MYCN	4613	HP:0001734	Annular pancreas
OMIM:164280	MYCN	4613	HP:0000232	Everted lower lip vermilion
OMIM:164280	MYCN	4613	HP:0000006	Autosomal dominant inheritance
OMIM:164280	MYCN	4613	HP:0000463	Anteverted nares
OMIM:164280	MYCN	4613	HP:0001249	Intellectual disability
OMIM:164280	MYCN	4613	HP:0000365	Hearing impairment
OMIM:164280	MYCN	4613	HP:0000269	Prominent occiput
OMIM:164280	MYCN	4613	HP:0002247	Duodenal atresia
OMIM:164280	MYCN	4613	HP:0001605	Vocal cord paralysis
OMIM:164280	MYCN	4613	HP:0012745	Short palpebral fissure
OMIM:164280	MYCN	4613	HP:0001831	Short toe
OMIM:164280	MYCN	4613	HP:0000431	Wide nasal bridge
OMIM:164280	MYCN	4613	HP:0012471	Thick vermilion border
OMIM:164280	MYCN	4613	HP:0000581	Blepharophimosis
OMIM:164280	MYCN	4613	HP:0001746	Asplenia
OMIM:164280	MYCN	4613	HP:0001561	Polyhydramnios
OMIM:164280	MYCN	4613	HP:0001747	Accessory spleen
OMIM:164280	MYCN	4613	HP:0000582	Upslanted palpebral fissure
OMIM:164280	MYCN	4613	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:164280	MYCN	4613	HP:0000252	Microcephaly
OMIM:164280	MYCN	4613	HP:0002032	Esophageal atresia
OMIM:164280	MYCN	4613	HP:0002575	Tracheoesophageal fistula
OMIM:164280	MYCN	4613	HP:0000237	Small anterior fontanelle
OMIM:164280	MYCN	4613	HP:0000324	Facial asymmetry
OMIM:164280	MYCN	4613	HP:0000437	Depressed nasal tip
OMIM:164280	MYCN	4613	HP:0000347	Micrognathia
OMIM:164280	MYCN	4613	HP:0000369	Low-set ears
OMIM:164280	MYCN	4613	HP:0000358	Posteriorly rotated ears
ORPHA:118	MANBA	4126	HP:0000365	Hearing impairment
ORPHA:118	MANBA	4126	HP:0002205	Recurrent respiratory infections
ORPHA:118	MANBA	4126	HP:0005247	Hypoplasia of the abdominal wall musculature
ORPHA:118	MANBA	4126	HP:0001250	Seizures
ORPHA:118	MANBA	4126	HP:0001999	Abnormal facial shape
ORPHA:118	MANBA	4126	HP:0001249	Intellectual disability
OMIM:615960	LAMA1	284217	HP:0001270	Motor delay
OMIM:615960	LAMA1	284217	HP:0000556	Retinal dystrophy
OMIM:615960	LAMA1	284217	HP:0002198	Dilated fourth ventricle
OMIM:615960	LAMA1	284217	HP:0000486	Strabismus
OMIM:615960	LAMA1	284217	HP:0007033	Cerebellar dysplasia
OMIM:615960	LAMA1	284217	HP:0000750	Delayed speech and language development
OMIM:615960	LAMA1	284217	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615960	LAMA1	284217	HP:0000545	Myopia
OMIM:615960	LAMA1	284217	HP:0001105	Retinal atrophy
OMIM:615960	LAMA1	284217	HP:0002350	Cerebellar cyst
OMIM:615960	LAMA1	284217	HP:0030329	Retinal thinning
OMIM:615960	LAMA1	284217	HP:0000007	Autosomal recessive inheritance
OMIM:615960	LAMA1	284217	HP:0000639	Nystagmus
OMIM:615960	LAMA1	284217	HP:0002518	Abnormality of the periventricular white matter
OMIM:615960	LAMA1	284217	HP:0003828	Variable expressivity
OMIM:615960	LAMA1	284217	HP:0000646	Amblyopia
OMIM:615960	LAMA1	284217	HP:0000657	Oculomotor apraxia
OMIM:616265	CHST8	64377	HP:0000007	Autosomal recessive inheritance
OMIM:616265	CHST8	64377	HP:0040190	White scaling skin
OMIM:612840	FERMT3	83706	HP:0001581	Recurrent skin infections
OMIM:612840	FERMT3	83706	HP:0001903	Anemia
OMIM:612840	FERMT3	83706	HP:0100806	Sepsis
OMIM:612840	FERMT3	83706	HP:0000967	Petechiae
OMIM:612840	FERMT3	83706	HP:0002718	Recurrent bacterial infections
OMIM:612840	FERMT3	83706	HP:0001974	Leukocytosis
OMIM:612840	FERMT3	83706	HP:0002240	Hepatomegaly
OMIM:612840	FERMT3	83706	HP:0001872	Abnormality of thrombocytes
OMIM:612840	FERMT3	83706	HP:0003593	Infantile onset
OMIM:612840	FERMT3	83706	HP:0001433	Hepatosplenomegaly
OMIM:612840	FERMT3	83706	HP:0001482	Subcutaneous nodule
OMIM:612840	FERMT3	83706	HP:0002733	Abnormality of the lymph nodes
OMIM:612840	FERMT3	83706	HP:0001744	Splenomegaly
OMIM:612840	FERMT3	83706	HP:0012531	Pain
OMIM:612840	FERMT3	83706	HP:0000007	Autosomal recessive inheritance
OMIM:208150	MUSK	4593	HP:0000316	Hypertelorism
OMIM:208150	MUSK	4593	HP:0001511	Intrauterine growth retardation
OMIM:208150	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	MUSK	4593	HP:0000470	Short neck
OMIM:208150	MUSK	4593	HP:0000175	Cleft palate
OMIM:208150	MUSK	4593	HP:0000343	Long philtrum
OMIM:208150	MUSK	4593	HP:0000883	Thin ribs
OMIM:208150	MUSK	4593	HP:0001438	Abnormality of abdomen morphology
OMIM:208150	MUSK	4593	HP:0001518	Small for gestational age
OMIM:208150	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:208150	MUSK	4593	HP:0009487	Ulnar deviation of the hand
OMIM:208150	MUSK	4593	HP:0005257	Thoracic hypoplasia
OMIM:208150	MUSK	4593	HP:0000506	Telecanthus
OMIM:208150	MUSK	4593	HP:0000581	Blepharophimosis
OMIM:208150	MUSK	4593	HP:0000508	Ptosis
OMIM:208150	MUSK	4593	HP:0006266	Small placenta
OMIM:208150	MUSK	4593	HP:0000358	Posteriorly rotated ears
OMIM:208150	MUSK	4593	HP:0012745	Short palpebral fissure
OMIM:208150	MUSK	4593	HP:0001622	Premature birth
OMIM:208150	MUSK	4593	HP:0000160	Narrow mouth
OMIM:208150	MUSK	4593	HP:0001331	Absent septum pellucidum
OMIM:208150	MUSK	4593	HP:0003100	Slender long bone
OMIM:208150	MUSK	4593	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	MUSK	4593	HP:0001196	Short umbilical cord
OMIM:208150	MUSK	4593	HP:0000437	Depressed nasal tip
OMIM:208150	MUSK	4593	HP:0002089	Pulmonary hypoplasia
OMIM:208150	MUSK	4593	HP:0000238	Hydrocephalus
OMIM:208150	MUSK	4593	HP:0003070	Elbow ankylosis
OMIM:208150	MUSK	4593	HP:0000520	Proptosis
OMIM:208150	MUSK	4593	HP:0001321	Cerebellar hypoplasia
OMIM:208150	MUSK	4593	HP:0002389	Cavum septum pellucidum
OMIM:208150	MUSK	4593	HP:0100490	Camptodactyly of finger
OMIM:208150	MUSK	4593	HP:0003700	Generalized amyotrophy
OMIM:208150	MUSK	4593	HP:0001561	Polyhydramnios
OMIM:208150	MUSK	4593	HP:0001838	Rocker bottom foot
OMIM:208150	MUSK	4593	HP:0000347	Micrognathia
OMIM:208150	MUSK	4593	HP:0002705	High, narrow palate
OMIM:208150	MUSK	4593	HP:0000028	Cryptorchidism
OMIM:208150	MUSK	4593	HP:0001989	Fetal akinesia sequence
OMIM:208150	MUSK	4593	HP:0001762	Talipes equinovarus
OMIM:208150	DOK7	285489	HP:0000316	Hypertelorism
OMIM:208150	DOK7	285489	HP:0001511	Intrauterine growth retardation
OMIM:208150	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	DOK7	285489	HP:0000470	Short neck
OMIM:208150	DOK7	285489	HP:0000175	Cleft palate
OMIM:208150	DOK7	285489	HP:0000343	Long philtrum
OMIM:208150	DOK7	285489	HP:0000883	Thin ribs
OMIM:208150	DOK7	285489	HP:0001438	Abnormality of abdomen morphology
OMIM:208150	DOK7	285489	HP:0001518	Small for gestational age
OMIM:208150	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:208150	DOK7	285489	HP:0009487	Ulnar deviation of the hand
OMIM:208150	DOK7	285489	HP:0005257	Thoracic hypoplasia
OMIM:208150	DOK7	285489	HP:0000506	Telecanthus
OMIM:208150	DOK7	285489	HP:0000581	Blepharophimosis
OMIM:208150	DOK7	285489	HP:0000508	Ptosis
OMIM:208150	DOK7	285489	HP:0006266	Small placenta
OMIM:208150	DOK7	285489	HP:0000358	Posteriorly rotated ears
OMIM:208150	DOK7	285489	HP:0012745	Short palpebral fissure
OMIM:208150	DOK7	285489	HP:0001622	Premature birth
OMIM:208150	DOK7	285489	HP:0000160	Narrow mouth
OMIM:208150	DOK7	285489	HP:0001331	Absent septum pellucidum
OMIM:208150	DOK7	285489	HP:0003100	Slender long bone
OMIM:208150	DOK7	285489	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	DOK7	285489	HP:0001196	Short umbilical cord
OMIM:208150	DOK7	285489	HP:0000437	Depressed nasal tip
OMIM:208150	DOK7	285489	HP:0002089	Pulmonary hypoplasia
OMIM:208150	DOK7	285489	HP:0000238	Hydrocephalus
OMIM:208150	DOK7	285489	HP:0003070	Elbow ankylosis
OMIM:208150	DOK7	285489	HP:0000520	Proptosis
OMIM:208150	DOK7	285489	HP:0001321	Cerebellar hypoplasia
OMIM:208150	DOK7	285489	HP:0002389	Cavum septum pellucidum
OMIM:208150	DOK7	285489	HP:0100490	Camptodactyly of finger
OMIM:208150	DOK7	285489	HP:0003700	Generalized amyotrophy
OMIM:208150	DOK7	285489	HP:0001561	Polyhydramnios
OMIM:208150	DOK7	285489	HP:0001838	Rocker bottom foot
OMIM:208150	DOK7	285489	HP:0000347	Micrognathia
OMIM:208150	DOK7	285489	HP:0002705	High, narrow palate
OMIM:208150	DOK7	285489	HP:0000028	Cryptorchidism
OMIM:208150	DOK7	285489	HP:0001989	Fetal akinesia sequence
OMIM:208150	DOK7	285489	HP:0001762	Talipes equinovarus
OMIM:208150	RAPSN	5913	HP:0000316	Hypertelorism
OMIM:208150	RAPSN	5913	HP:0001511	Intrauterine growth retardation
OMIM:208150	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	RAPSN	5913	HP:0000470	Short neck
OMIM:208150	RAPSN	5913	HP:0000175	Cleft palate
OMIM:208150	RAPSN	5913	HP:0000343	Long philtrum
OMIM:208150	RAPSN	5913	HP:0000883	Thin ribs
OMIM:208150	RAPSN	5913	HP:0001438	Abnormality of abdomen morphology
OMIM:208150	RAPSN	5913	HP:0001518	Small for gestational age
OMIM:208150	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:208150	RAPSN	5913	HP:0009487	Ulnar deviation of the hand
OMIM:208150	RAPSN	5913	HP:0005257	Thoracic hypoplasia
OMIM:208150	RAPSN	5913	HP:0000506	Telecanthus
OMIM:208150	RAPSN	5913	HP:0000581	Blepharophimosis
OMIM:208150	RAPSN	5913	HP:0000508	Ptosis
OMIM:208150	RAPSN	5913	HP:0006266	Small placenta
OMIM:208150	RAPSN	5913	HP:0000358	Posteriorly rotated ears
OMIM:208150	RAPSN	5913	HP:0012745	Short palpebral fissure
OMIM:208150	RAPSN	5913	HP:0001622	Premature birth
OMIM:208150	RAPSN	5913	HP:0000160	Narrow mouth
OMIM:208150	RAPSN	5913	HP:0001331	Absent septum pellucidum
OMIM:208150	RAPSN	5913	HP:0003100	Slender long bone
OMIM:208150	RAPSN	5913	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	RAPSN	5913	HP:0001196	Short umbilical cord
OMIM:208150	RAPSN	5913	HP:0000437	Depressed nasal tip
OMIM:208150	RAPSN	5913	HP:0002089	Pulmonary hypoplasia
OMIM:208150	RAPSN	5913	HP:0000238	Hydrocephalus
OMIM:208150	RAPSN	5913	HP:0003070	Elbow ankylosis
OMIM:208150	RAPSN	5913	HP:0000520	Proptosis
OMIM:208150	RAPSN	5913	HP:0001321	Cerebellar hypoplasia
OMIM:208150	RAPSN	5913	HP:0002389	Cavum septum pellucidum
OMIM:208150	RAPSN	5913	HP:0100490	Camptodactyly of finger
OMIM:208150	RAPSN	5913	HP:0003700	Generalized amyotrophy
OMIM:208150	RAPSN	5913	HP:0001561	Polyhydramnios
OMIM:208150	RAPSN	5913	HP:0001838	Rocker bottom foot
OMIM:208150	RAPSN	5913	HP:0000347	Micrognathia
OMIM:208150	RAPSN	5913	HP:0002705	High, narrow palate
OMIM:208150	RAPSN	5913	HP:0000028	Cryptorchidism
OMIM:208150	RAPSN	5913	HP:0001989	Fetal akinesia sequence
OMIM:208150	RAPSN	5913	HP:0001762	Talipes equinovarus
OMIM:600513	CHRNA4	1137	HP:0007359	Focal seizures
OMIM:600513	CHRNA4	1137	HP:0003829	Incomplete penetrance
OMIM:600513	CHRNA4	1137	HP:0011463	Childhood onset
OMIM:600513	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:314250	TAF1	6872	HP:0001336	Myoclonus
OMIM:314250	TAF1	6872	HP:0001304	Torsion dystonia
OMIM:314250	TAF1	6872	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
OMIM:314250	TAF1	6872	HP:0001419	X-linked recessive inheritance
OMIM:314250	TAF1	6872	HP:0001337	Tremor
OMIM:314250	TAF1	6872	HP:0003581	Adult onset
OMIM:314250	TAF1	6872	HP:0002072	Chorea
OMIM:615373	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:615373	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615373	PRDM16	63976	HP:0001711	Abnormal morphology of the left ventricle
OMIM:615373	PRDM16	63976	HP:0030682	Left ventricular noncompaction
OMIM:615373	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:600996	RYR2	6262	HP:0006698	Dilatation of the ventricular cavity
OMIM:600996	RYR2	6262	HP:0011663	Right ventricular cardiomyopathy
OMIM:600996	RYR2	6262	HP:0000006	Autosomal dominant inheritance
OMIM:600996	RYR2	6262	HP:0001699	Sudden death
OMIM:600996	RYR2	6262	HP:0004308	Ventricular arrhythmia
OMIM:600996	RYR2	6262	HP:0004758	Effort-induced polymorphic ventricular tachycardias
OMIM:615625	REEP2	51308	HP:0000007	Autosomal recessive inheritance
OMIM:615625	REEP2	51308	HP:0003552	Muscle stiffness
OMIM:615625	REEP2	51308	HP:0001347	Hyperreflexia
OMIM:615625	REEP2	51308	HP:0003487	Babinski sign
OMIM:615625	REEP2	51308	HP:0001258	Spastic paraplegia
OMIM:615625	REEP2	51308	HP:0000006	Autosomal dominant inheritance
OMIM:615625	REEP2	51308	HP:0002064	Spastic gait
OMIM:615625	REEP2	51308	HP:0003677	Slow progression
OMIM:606705	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TMC1	117531	HP:0000360	Tinnitus
OMIM:606705	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:300500	GPR143	4935	HP:0001417	X-linked inheritance
OMIM:300500	GPR143	4935	HP:0000613	Photophobia
OMIM:300500	GPR143	4935	HP:0001361	Nystagmus-induced head nodding
OMIM:300500	GPR143	4935	HP:0007680	Depigmented fundus
OMIM:300500	GPR143	4935	HP:0000505	Visual impairment
OMIM:300500	GPR143	4935	HP:0001107	Ocular albinism
OMIM:300500	GPR143	4935	HP:0005592	Giant melanosomes in melanocytes
OMIM:269880	PIK3R1	5295	HP:0000558	Rieger anomaly
OMIM:269880	PIK3R1	5295	HP:0000430	Underdeveloped nasal alae
OMIM:269880	PIK3R1	5295	HP:0010751	Dimple chin
OMIM:269880	PIK3R1	5295	HP:0000689	Dental malocclusion
OMIM:269880	PIK3R1	5295	HP:0010580	Enlarged epiphyses
OMIM:269880	PIK3R1	5295	HP:0100578	Lipoatrophy
OMIM:269880	PIK3R1	5295	HP:0000501	Glaucoma
OMIM:269880	PIK3R1	5295	HP:0000347	Micrognathia
OMIM:269880	PIK3R1	5295	HP:0000485	Megalocornea
OMIM:269880	PIK3R1	5295	HP:0001511	Intrauterine growth retardation
OMIM:269880	PIK3R1	5295	HP:0000400	Macrotia
OMIM:269880	PIK3R1	5295	HP:0009125	Lipodystrophy
OMIM:269880	PIK3R1	5295	HP:0000023	Inguinal hernia
OMIM:269880	PIK3R1	5295	HP:0000518	Cataract
OMIM:269880	PIK3R1	5295	HP:0003561	Birth length less than 3rd percentile
OMIM:269880	PIK3R1	5295	HP:0000750	Delayed speech and language development
OMIM:269880	PIK3R1	5295	HP:0011220	Prominent forehead
OMIM:269880	PIK3R1	5295	HP:0000668	Hypodontia
OMIM:269880	PIK3R1	5295	HP:0000833	Glucose intolerance
OMIM:269880	PIK3R1	5295	HP:0000684	Delayed eruption of teeth
OMIM:269880	PIK3R1	5295	HP:0001518	Small for gestational age
OMIM:269880	PIK3R1	5295	HP:0000325	Triangular face
OMIM:269880	PIK3R1	5295	HP:0000506	Telecanthus
OMIM:269880	PIK3R1	5295	HP:0003074	Hyperglycemia
OMIM:269880	PIK3R1	5295	HP:0000431	Wide nasal bridge
OMIM:269880	PIK3R1	5295	HP:0002007	Frontal bossing
OMIM:269880	PIK3R1	5295	HP:0000545	Myopia
OMIM:269880	PIK3R1	5295	HP:0011800	Midface retrusion
OMIM:269880	PIK3R1	5295	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:269880	PIK3R1	5295	HP:0000963	Thin skin
OMIM:269880	PIK3R1	5295	HP:0000407	Sensorineural hearing impairment
OMIM:269880	PIK3R1	5295	HP:0030084	Clinodactyly
OMIM:269880	PIK3R1	5295	HP:0009466	Radial deviation of finger
OMIM:269880	PIK3R1	5295	HP:0000490	Deeply set eye
OMIM:269880	PIK3R1	5295	HP:0001388	Joint laxity
OMIM:269880	PIK3R1	5295	HP:0002715	Abnormality of the immune system
OMIM:269880	PIK3R1	5295	HP:0002714	Downturned corners of mouth
OMIM:269880	PIK3R1	5295	HP:0100678	Premature skin wrinkling
OMIM:269880	PIK3R1	5295	HP:0000006	Autosomal dominant inheritance
OMIM:269880	PIK3R1	5295	HP:0002750	Delayed skeletal maturation
ORPHA:329228	ZNF335	63925	HP:0009879	Cortical gyral simplification
ORPHA:329228	ZNF335	63925	HP:0012757	Abnormal neuron morphology
ORPHA:329228	ZNF335	63925	HP:0002119	Ventriculomegaly
ORPHA:329228	ZNF335	63925	HP:0002472	Small cerebral cortex
ORPHA:329228	ZNF335	63925	HP:0000252	Microcephaly
ORPHA:329228	ZNF335	63925	HP:0001317	Abnormality of the cerebellum
ORPHA:329228	ZNF335	63925	HP:0012444	Brain atrophy
OMIM:614385	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:614385	MLH3	27030	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
ORPHA:49827	SLC19A2	10560	HP:0000819	Diabetes mellitus
ORPHA:49827	SLC19A2	10560	HP:0000648	Optic atrophy
ORPHA:49827	SLC19A2	10560	HP:0000980	Pallor
ORPHA:49827	SLC19A2	10560	HP:0002014	Diarrhea
ORPHA:49827	SLC19A2	10560	HP:0000407	Sensorineural hearing impairment
ORPHA:49827	SLC19A2	10560	HP:0003401	Paresthesia
ORPHA:49827	SLC19A2	10560	HP:0002039	Anorexia
ORPHA:49827	SLC19A2	10560	HP:0001873	Thrombocytopenia
ORPHA:49827	SLC19A2	10560	HP:0002315	Headache
ORPHA:49827	SLC19A2	10560	HP:0001254	Lethargy
ORPHA:49827	SLC19A2	10560	HP:0001889	Megaloblastic anemia
OMIM:608885	SLC2A1	6513	HP:0000639	Nystagmus
OMIM:608885	SLC2A1	6513	HP:0000518	Cataract
OMIM:608885	SLC2A1	6513	HP:0001251	Ataxia
OMIM:608885	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:608885	SLC2A1	6513	HP:0001257	Spasticity
OMIM:608885	SLC2A1	6513	HP:0000952	Jaundice
OMIM:608885	SLC2A1	6513	HP:0001744	Splenomegaly
OMIM:608885	SLC2A1	6513	HP:0000252	Microcephaly
OMIM:608885	SLC2A1	6513	HP:0001263	Global developmental delay
OMIM:608885	SLC2A1	6513	HP:0012448	Delayed myelination
OMIM:608885	SLC2A1	6513	HP:0011972	Hypoglycorrhachia
OMIM:608885	SLC2A1	6513	HP:0003593	Infantile onset
OMIM:608885	SLC2A1	6513	HP:0004322	Short stature
OMIM:608885	SLC2A1	6513	HP:0001249	Intellectual disability
OMIM:608885	SLC2A1	6513	HP:0001878	Hemolytic anemia
OMIM:608885	SLC2A1	6513	HP:0001344	Absent speech
OMIM:608885	SLC2A1	6513	HP:0001347	Hyperreflexia
OMIM:608885	SLC2A1	6513	HP:0002540	Inability to walk
OMIM:608885	SLC2A1	6513	HP:0001250	Seizures
OMIM:608885	SLC2A1	6513	HP:0002240	Hepatomegaly
OMIM:616878	TANGO2	128989	HP:0002307	Drooling
OMIM:616878	TANGO2	128989	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616878	TANGO2	128989	HP:0001942	Metabolic acidosis
OMIM:616878	TANGO2	128989	HP:0001260	Dysarthria
OMIM:616878	TANGO2	128989	HP:0002059	Cerebral atrophy
OMIM:616878	TANGO2	128989	HP:0003128	Lactic acidosis
OMIM:616878	TANGO2	128989	HP:0045045	Elevated plasma acylcarnitine levels
OMIM:616878	TANGO2	128989	HP:0002370	Poor coordination
OMIM:616878	TANGO2	128989	HP:0000007	Autosomal recessive inheritance
OMIM:616878	TANGO2	128989	HP:0002169	Clonus
OMIM:616878	TANGO2	128989	HP:0001288	Gait disturbance
OMIM:616878	TANGO2	128989	HP:0001663	Ventricular fibrillation
OMIM:616878	TANGO2	128989	HP:0008942	Acute rhabdomyolysis
OMIM:616878	TANGO2	128989	HP:0001324	Muscle weakness
OMIM:616878	TANGO2	128989	HP:0001290	Generalized hypotonia
OMIM:616878	TANGO2	128989	HP:0002180	Neurodegeneration
OMIM:616878	TANGO2	128989	HP:0200136	Oral-pharyngeal dysphagia
OMIM:616878	TANGO2	128989	HP:0002919	Ketonuria
OMIM:616878	TANGO2	128989	HP:0001251	Ataxia
OMIM:616878	TANGO2	128989	HP:0002058	Myopathic facies
OMIM:616878	TANGO2	128989	HP:0002066	Gait ataxia
OMIM:616878	TANGO2	128989	HP:0001249	Intellectual disability
OMIM:616878	TANGO2	128989	HP:0002910	Elevated hepatic transaminases
OMIM:616878	TANGO2	128989	HP:0006801	Hyperactive deep tendon reflexes
OMIM:616878	TANGO2	128989	HP:0000821	Hypothyroidism
OMIM:616878	TANGO2	128989	HP:0002913	Myoglobinuria
OMIM:616878	TANGO2	128989	HP:0001695	Cardiac arrest
OMIM:615503	WDR60	55112	HP:0001508	Failure to thrive
OMIM:615503	WDR60	55112	HP:0100259	Postaxial polydactyly
OMIM:615503	WDR60	55112	HP:0005280	Depressed nasal bridge
OMIM:615503	WDR60	55112	HP:0100732	Pancreatic fibrosis
OMIM:615503	WDR60	55112	HP:0002089	Pulmonary hypoplasia
OMIM:615503	WDR60	55112	HP:0000774	Narrow chest
OMIM:615503	WDR60	55112	HP:0000256	Macrocephaly
OMIM:615503	WDR60	55112	HP:0001156	Brachydactyly
OMIM:615503	WDR60	55112	HP:0003026	Short long bone
OMIM:615503	WDR60	55112	HP:0002980	Femoral bowing
OMIM:615503	WDR60	55112	HP:0100258	Preaxial polydactyly
OMIM:615503	WDR60	55112	HP:0000773	Short ribs
OMIM:615503	WDR60	55112	HP:0001561	Polyhydramnios
OMIM:615503	WDR60	55112	HP:0006644	Thoracic dysplasia
OMIM:615503	WDR60	55112	HP:0010454	Acetabular spurs
OMIM:615503	WDR60	55112	HP:0000062	Ambiguous genitalia
OMIM:615503	WDR60	55112	HP:0001159	Syndactyly
OMIM:615503	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:615503	WDR60	55112	HP:0001629	Ventricular septal defect
OMIM:615503	WDR60	55112	HP:0004322	Short stature
OMIM:245200	GALC	2581	HP:0001508	Failure to thrive
OMIM:245200	GALC	2581	HP:0002353	EEG abnormality
OMIM:245200	GALC	2581	HP:0001973	Autoimmune thrombocytopenia
OMIM:245200	GALC	2581	HP:0000762	Decreased nerve conduction velocity
OMIM:245200	GALC	2581	HP:0011096	Peripheral demyelination
OMIM:245200	GALC	2581	HP:0007141	Sensorimotor neuropathy
OMIM:245200	GALC	2581	HP:0002180	Neurodegeneration
OMIM:245200	GALC	2581	HP:0002922	Increased CSF protein
OMIM:245200	GALC	2581	HP:0000238	Hydrocephalus
OMIM:245200	GALC	2581	HP:0000618	Blindness
OMIM:245200	GALC	2581	HP:0000365	Hearing impairment
OMIM:245200	GALC	2581	HP:0002376	Developmental regression
OMIM:245200	GALC	2581	HP:0000639	Nystagmus
OMIM:245200	GALC	2581	HP:0000007	Autosomal recessive inheritance
OMIM:245200	GALC	2581	HP:0001954	Episodic fever
OMIM:245200	GALC	2581	HP:0007305	CNS demyelination
OMIM:245200	GALC	2581	HP:0001252	Muscular hypotonia
OMIM:245200	GALC	2581	HP:0000648	Optic atrophy
OMIM:245200	GALC	2581	HP:0002013	Vomiting
OMIM:245200	GALC	2581	HP:0002191	Progressive spasticity
OMIM:245200	GALC	2581	HP:0001250	Seizures
OMIM:245200	GALC	2581	HP:0025013	Decerebrate rigidity
OMIM:245200	GALC	2581	HP:0002506	Diffuse cerebral atrophy
OMIM:245200	GALC	2581	HP:0002333	Motor deterioration
OMIM:245200	GALC	2581	HP:0007928	Abnormal flash visual evoked potentials
OMIM:245200	GALC	2581	HP:0001276	Hypertonia
OMIM:245200	GALC	2581	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:2604	ACTG2	72	HP:0000076	Vesicoureteral reflux
ORPHA:2604	ACTG2	72	HP:0000021	Megacystis
ORPHA:2604	ACTG2	72	HP:0003270	Abdominal distention
ORPHA:2604	ACTG2	72	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:2604	ACTG2	72	HP:0000072	Hydroureter
OMIM:615386	SPTBN2	6712	HP:0002066	Gait ataxia
OMIM:615386	SPTBN2	6712	HP:0002080	Intention tremor
OMIM:615386	SPTBN2	6712	HP:0001310	Dysmetria
OMIM:615386	SPTBN2	6712	HP:0000750	Delayed speech and language development
OMIM:615386	SPTBN2	6712	HP:0003677	Slow progression
OMIM:615386	SPTBN2	6712	HP:0000007	Autosomal recessive inheritance
OMIM:615386	SPTBN2	6712	HP:0001263	Global developmental delay
OMIM:615386	SPTBN2	6712	HP:0001272	Cerebellar atrophy
OMIM:615386	SPTBN2	6712	HP:0100543	Cognitive impairment
OMIM:615386	SPTBN2	6712	HP:0002075	Dysdiadochokinesis
OMIM:615386	SPTBN2	6712	HP:0003593	Infantile onset
ORPHA:2116	SLC6A19	340024	HP:0012086	Abnormal urinary color
ORPHA:2116	SLC6A19	340024	HP:0000613	Photophobia
ORPHA:2116	SLC6A19	340024	HP:0000639	Nystagmus
ORPHA:2116	SLC6A19	340024	HP:0000739	Anxiety
ORPHA:2116	SLC6A19	340024	HP:0000738	Hallucinations
ORPHA:2116	SLC6A19	340024	HP:0008353	Neutral hyperaminoaciduria
ORPHA:2116	SLC6A19	340024	HP:0001252	Muscular hypotonia
ORPHA:2116	SLC6A19	340024	HP:0002353	EEG abnormality
ORPHA:2116	SLC6A19	340024	HP:0000988	Skin rash
ORPHA:2116	SLC6A19	340024	HP:0002024	Malabsorption
ORPHA:2116	SLC6A19	340024	HP:0000486	Strabismus
ORPHA:2116	SLC6A19	340024	HP:0000992	Cutaneous photosensitivity
ORPHA:2116	SLC6A19	340024	HP:0001251	Ataxia
ORPHA:2116	SLC6A19	340024	HP:0001347	Hyperreflexia
ORPHA:2116	SLC6A19	340024	HP:0002076	Migraine
ORPHA:2116	SLC6A19	340024	HP:0000712	Emotional lability
ORPHA:45	AMPD3	272	HP:0003690	Limb muscle weakness
ORPHA:45	AMPD3	272	HP:0009020	Exercise-induced muscle fatigue
ORPHA:45	AMPD3	272	HP:0003738	Exercise-induced myalgia
ORPHA:45	AMPD3	272	HP:0003394	Muscle cramps
ORPHA:45	AMPD1	270	HP:0003690	Limb muscle weakness
ORPHA:45	AMPD1	270	HP:0009020	Exercise-induced muscle fatigue
ORPHA:45	AMPD1	270	HP:0003738	Exercise-induced myalgia
ORPHA:45	AMPD1	270	HP:0003394	Muscle cramps
OMIM:609129	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DIAPH3	81624	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	DIAPH3	81624	HP:0001963	Abnormal speech discrimination
OMIM:609129	DIAPH3	81624	HP:0008529	Absence of acoustic reflex
OMIM:609129	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:609886	UMOD	7369	HP:0002149	Hyperuricemia
OMIM:609886	UMOD	7369	HP:0000006	Autosomal dominant inheritance
OMIM:609886	UMOD	7369	HP:0100611	Multiple glomerular cysts
OMIM:609886	UMOD	7369	HP:0000083	Renal insufficiency
OMIM:609886	UMOD	7369	HP:0000091	Abnormality of the renal tubule
ORPHA:3042	ZBTB20	26137	HP:0000771	Gynecomastia
ORPHA:3042	ZBTB20	26137	HP:0002376	Developmental regression
ORPHA:3042	ZBTB20	26137	HP:0003301	Irregular vertebral endplates
ORPHA:3042	ZBTB20	26137	HP:0001357	Plagiocephaly
ORPHA:3042	ZBTB20	26137	HP:0008689	Bilateral cryptorchidism
ORPHA:3042	ZBTB20	26137	HP:0000400	Macrotia
ORPHA:3042	ZBTB20	26137	HP:0000174	Abnormality of the palate
ORPHA:3042	ZBTB20	26137	HP:0002868	Narrow iliac wings
ORPHA:3042	ZBTB20	26137	HP:0001288	Gait disturbance
ORPHA:3042	ZBTB20	26137	HP:0001903	Anemia
ORPHA:3042	ZBTB20	26137	HP:0001798	Anonychia
ORPHA:3042	ZBTB20	26137	HP:0000135	Hypogonadism
ORPHA:3042	ZBTB20	26137	HP:0000518	Cataract
ORPHA:3042	ZBTB20	26137	HP:0000767	Pectus excavatum
ORPHA:3042	ZBTB20	26137	HP:0000405	Conductive hearing impairment
ORPHA:3042	ZBTB20	26137	HP:0002797	Osteolysis
ORPHA:3042	ZBTB20	26137	HP:0002808	Kyphosis
ORPHA:3042	ZBTB20	26137	HP:0001249	Intellectual disability
ORPHA:3042	ZBTB20	26137	HP:0004322	Short stature
ORPHA:3042	ZBTB20	26137	HP:0001250	Seizures
ORPHA:3042	ZBTB20	26137	HP:0003198	Myopathy
ORPHA:3042	ZBTB20	26137	HP:0011800	Midface retrusion
ORPHA:3042	ZBTB20	26137	HP:0012062	Bone cyst
ORPHA:3042	ZBTB20	26137	HP:0000664	Synophrys
ORPHA:3042	ZBTB20	26137	HP:0005103	Calcification of the auricular cartilage
ORPHA:3042	ZBTB20	26137	HP:0003273	Hip contracture
ORPHA:3042	ZBTB20	26137	HP:0000238	Hydrocephalus
ORPHA:3042	ZBTB20	26137	HP:0000494	Downslanted palpebral fissures
ORPHA:3042	ZBTB20	26137	HP:0002650	Scoliosis
ORPHA:3042	ZBTB20	26137	HP:0005121	Posterior scalloping of vertebral bodies
ORPHA:3042	ZBTB20	26137	HP:0000774	Narrow chest
ORPHA:69126	PSTPIP1	9051	HP:0001376	Limitation of joint mobility
ORPHA:69126	PSTPIP1	9051	HP:0012378	Fatigue
ORPHA:69126	PSTPIP1	9051	HP:0200039	Pustule
ORPHA:69126	PSTPIP1	9051	HP:0010702	Increased antibody level in blood
ORPHA:69126	PSTPIP1	9051	HP:0001369	Arthritis
ORPHA:69126	PSTPIP1	9051	HP:0001061	Acne
ORPHA:69126	PSTPIP1	9051	HP:0002829	Arthralgia
ORPHA:69126	PSTPIP1	9051	HP:0001945	Fever
ORPHA:69126	PSTPIP1	9051	HP:0200042	Skin ulcer
ORPHA:69126	PSTPIP1	9051	HP:0002716	Lymphadenopathy
OMIM:145500	PTGIS	5740	HP:0001426	Multifactorial inheritance
OMIM:145500	PTGIS	5740	HP:0004421	Elevated systolic blood pressure
OMIM:145500	PTGIS	5740	HP:0004972	Elevated mean arterial pressure
OMIM:145500	PTGIS	5740	HP:0005117	Elevated diastolic blood pressure
OMIM:616430	MARS2	92935	HP:0000824	Growth hormone deficiency
OMIM:616430	MARS2	92935	HP:0003577	Congenital onset
OMIM:616430	MARS2	92935	HP:0000431	Wide nasal bridge
OMIM:616430	MARS2	92935	HP:0000007	Autosomal recessive inheritance
OMIM:616430	MARS2	92935	HP:0004322	Short stature
OMIM:616430	MARS2	92935	HP:0000369	Low-set ears
OMIM:616430	MARS2	92935	HP:0002059	Cerebral atrophy
OMIM:616430	MARS2	92935	HP:0000343	Long philtrum
OMIM:616430	MARS2	92935	HP:0001263	Global developmental delay
OMIM:616430	MARS2	92935	HP:0001290	Generalized hypotonia
OMIM:616430	MARS2	92935	HP:0005280	Depressed nasal bridge
OMIM:616430	MARS2	92935	HP:0000768	Pectus carinatum
OMIM:616430	MARS2	92935	HP:0003196	Short nose
OMIM:616430	MARS2	92935	HP:0001272	Cerebellar atrophy
OMIM:616430	MARS2	92935	HP:0011968	Feeding difficulties
OMIM:616430	MARS2	92935	HP:0000463	Anteverted nares
OMIM:615973	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:615973	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:615973	POC1B	282809	HP:0001133	Constriction of peripheral visual field
OMIM:615973	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:615973	POC1B	282809	HP:0000505	Visual impairment
OMIM:608415	RGS9	8787	HP:0030511	Bradyopsia
OMIM:608415	RGS9BP	388531	HP:0030511	Bradyopsia
OMIM:251000	MUT	4594	HP:0001254	Lethargy
OMIM:251000	MUT	4594	HP:0002453	Abnormality of the globus pallidus
OMIM:251000	MUT	4594	HP:0001263	Global developmental delay
OMIM:251000	MUT	4594	HP:0001944	Dehydration
OMIM:251000	MUT	4594	HP:0001733	Pancreatitis
OMIM:251000	MUT	4594	HP:0003774	Stage 5 chronic kidney disease
OMIM:251000	MUT	4594	HP:0000007	Autosomal recessive inheritance
OMIM:251000	MUT	4594	HP:0001970	Tubulointerstitial nephritis
OMIM:251000	MUT	4594	HP:0001259	Coma
OMIM:251000	MUT	4594	HP:0002154	Hyperglycinemia
OMIM:251000	MUT	4594	HP:0002912	Methylmalonic acidemia
OMIM:251000	MUT	4594	HP:0002240	Hepatomegaly
OMIM:251000	MUT	4594	HP:0001987	Hyperammonemia
OMIM:251000	MUT	4594	HP:0002013	Vomiting
OMIM:251000	MUT	4594	HP:0012120	Methylmalonic aciduria
OMIM:251000	MUT	4594	HP:0001882	Leukopenia
OMIM:251000	MUT	4594	HP:0001638	Cardiomyopathy
OMIM:251000	MUT	4594	HP:0002188	Delayed CNS myelination
OMIM:251000	MUT	4594	HP:0001290	Generalized hypotonia
OMIM:251000	MUT	4594	HP:0001508	Failure to thrive
OMIM:251000	MUT	4594	HP:0001873	Thrombocytopenia
OMIM:251000	MUT	4594	HP:0005979	Metabolic ketoacidosis
ORPHA:98759	TBP	6908	HP:0000643	Blepharospasm
ORPHA:98759	TBP	6908	HP:0000708	Behavioral abnormality
ORPHA:98759	TBP	6908	HP:0007366	Atrophy/Degeneration affecting the brainstem
ORPHA:98759	TBP	6908	HP:0002356	Writer's cramp
ORPHA:98759	TBP	6908	HP:0001257	Spasticity
ORPHA:98759	TBP	6908	HP:0002063	Rigidity
ORPHA:98759	TBP	6908	HP:0001300	Parkinsonism
ORPHA:98759	TBP	6908	HP:0007058	Generalized cerebral atrophy/hypoplasia
ORPHA:98759	TBP	6908	HP:0002072	Chorea
ORPHA:98759	TBP	6908	HP:0002529	Neuronal loss in central nervous system
ORPHA:98759	TBP	6908	HP:0001251	Ataxia
ORPHA:98759	TBP	6908	HP:0001288	Gait disturbance
ORPHA:98759	TBP	6908	HP:0001268	Mental deterioration
ORPHA:98759	TBP	6908	HP:0000473	Torticollis
ORPHA:98759	TBP	6908	HP:0007256	Abnormal pyramidal signs
ORPHA:98759	TBP	6908	HP:0012082	Cerebellar Purkinje layer atrophy
OMIM:613758	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:613758	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613758	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SAG	6295	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SAG	6295	HP:0000662	Nyctalopia
OMIM:613758	SAG	6295	HP:0000505	Visual impairment
ORPHA:163966	HDAC6	10013	HP:0001256	Intellectual disability, mild
ORPHA:163966	HDAC6	10013	HP:0006028	Metaphyseal cupping of metacarpals
ORPHA:163966	HDAC6	10013	HP:0000238	Hydrocephalus
ORPHA:163966	HDAC6	10013	HP:0000457	Depressed nasal ridge
ORPHA:163966	HDAC6	10013	HP:0008364	Abnormality of the calcaneus
ORPHA:163966	HDAC6	10013	HP:0003196	Short nose
ORPHA:163966	HDAC6	10013	HP:0000926	Platyspondyly
ORPHA:163966	HDAC6	10013	HP:0001511	Intrauterine growth retardation
ORPHA:163966	HDAC6	10013	HP:0002007	Frontal bossing
ORPHA:163966	HDAC6	10013	HP:0008905	Rhizomelia
ORPHA:163966	HDAC6	10013	HP:0000369	Low-set ears
ORPHA:163966	HDAC6	10013	HP:0000883	Thin ribs
ORPHA:163966	HDAC6	10013	HP:0000568	Microphthalmia
ORPHA:163966	HDAC6	10013	HP:0002866	Hypoplastic iliac wing
ORPHA:163966	HDAC6	10013	HP:0005871	Metaphyseal chondrodysplasia
ORPHA:163966	HDAC6	10013	HP:0001522	Death in infancy
ORPHA:163966	HDAC6	10013	HP:0001773	Short foot
ORPHA:163966	HDAC6	10013	HP:0004279	Short palm
ORPHA:772	PEX19	5824	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX19	5824	HP:0000708	Behavioral abnormality
ORPHA:772	PEX19	5824	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX19	5824	HP:0002240	Hepatomegaly
ORPHA:772	PEX19	5824	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX19	5824	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX19	5824	HP:0004322	Short stature
ORPHA:772	PEX19	5824	HP:0000662	Nyctalopia
ORPHA:772	PEX19	5824	HP:0001252	Muscular hypotonia
ORPHA:772	PEX19	5824	HP:0001257	Spasticity
ORPHA:772	PEX19	5824	HP:0001263	Global developmental delay
ORPHA:772	PEX19	5824	HP:0001251	Ataxia
ORPHA:772	PEX19	5824	HP:0000505	Visual impairment
ORPHA:772	PEX19	5824	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX19	5824	HP:0000639	Nystagmus
ORPHA:772	PEX19	5824	HP:0001508	Failure to thrive
ORPHA:772	PEX16	9409	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX16	9409	HP:0000708	Behavioral abnormality
ORPHA:772	PEX16	9409	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX16	9409	HP:0002240	Hepatomegaly
ORPHA:772	PEX16	9409	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX16	9409	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX16	9409	HP:0004322	Short stature
ORPHA:772	PEX16	9409	HP:0000662	Nyctalopia
ORPHA:772	PEX16	9409	HP:0001252	Muscular hypotonia
ORPHA:772	PEX16	9409	HP:0001257	Spasticity
ORPHA:772	PEX16	9409	HP:0001263	Global developmental delay
ORPHA:772	PEX16	9409	HP:0001251	Ataxia
ORPHA:772	PEX16	9409	HP:0000505	Visual impairment
ORPHA:772	PEX16	9409	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX16	9409	HP:0000639	Nystagmus
ORPHA:772	PEX16	9409	HP:0001508	Failure to thrive
ORPHA:772	PEX2	5828	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX2	5828	HP:0000708	Behavioral abnormality
ORPHA:772	PEX2	5828	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX2	5828	HP:0002240	Hepatomegaly
ORPHA:772	PEX2	5828	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX2	5828	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX2	5828	HP:0004322	Short stature
ORPHA:772	PEX2	5828	HP:0000662	Nyctalopia
ORPHA:772	PEX2	5828	HP:0001252	Muscular hypotonia
ORPHA:772	PEX2	5828	HP:0001257	Spasticity
ORPHA:772	PEX2	5828	HP:0001263	Global developmental delay
ORPHA:772	PEX2	5828	HP:0001251	Ataxia
ORPHA:772	PEX2	5828	HP:0000505	Visual impairment
ORPHA:772	PEX2	5828	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX2	5828	HP:0000639	Nystagmus
ORPHA:772	PEX2	5828	HP:0001508	Failure to thrive
ORPHA:772	PEX1	5189	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX1	5189	HP:0000708	Behavioral abnormality
ORPHA:772	PEX1	5189	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX1	5189	HP:0002240	Hepatomegaly
ORPHA:772	PEX1	5189	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX1	5189	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX1	5189	HP:0004322	Short stature
ORPHA:772	PEX1	5189	HP:0000662	Nyctalopia
ORPHA:772	PEX1	5189	HP:0001252	Muscular hypotonia
ORPHA:772	PEX1	5189	HP:0001257	Spasticity
ORPHA:772	PEX1	5189	HP:0001263	Global developmental delay
ORPHA:772	PEX1	5189	HP:0001251	Ataxia
ORPHA:772	PEX1	5189	HP:0000505	Visual impairment
ORPHA:772	PEX1	5189	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX1	5189	HP:0000639	Nystagmus
ORPHA:772	PEX1	5189	HP:0001508	Failure to thrive
ORPHA:772	PEX5	5830	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX5	5830	HP:0000708	Behavioral abnormality
ORPHA:772	PEX5	5830	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX5	5830	HP:0002240	Hepatomegaly
ORPHA:772	PEX5	5830	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX5	5830	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX5	5830	HP:0004322	Short stature
ORPHA:772	PEX5	5830	HP:0000662	Nyctalopia
ORPHA:772	PEX5	5830	HP:0001252	Muscular hypotonia
ORPHA:772	PEX5	5830	HP:0001257	Spasticity
ORPHA:772	PEX5	5830	HP:0001263	Global developmental delay
ORPHA:772	PEX5	5830	HP:0001251	Ataxia
ORPHA:772	PEX5	5830	HP:0000505	Visual impairment
ORPHA:772	PEX5	5830	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX5	5830	HP:0000639	Nystagmus
ORPHA:772	PEX5	5830	HP:0001508	Failure to thrive
ORPHA:772	PEX6	5190	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX6	5190	HP:0000708	Behavioral abnormality
ORPHA:772	PEX6	5190	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX6	5190	HP:0002240	Hepatomegaly
ORPHA:772	PEX6	5190	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX6	5190	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX6	5190	HP:0004322	Short stature
ORPHA:772	PEX6	5190	HP:0000662	Nyctalopia
ORPHA:772	PEX6	5190	HP:0001252	Muscular hypotonia
ORPHA:772	PEX6	5190	HP:0001257	Spasticity
ORPHA:772	PEX6	5190	HP:0001263	Global developmental delay
ORPHA:772	PEX6	5190	HP:0001251	Ataxia
ORPHA:772	PEX6	5190	HP:0000505	Visual impairment
ORPHA:772	PEX6	5190	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX6	5190	HP:0000639	Nystagmus
ORPHA:772	PEX6	5190	HP:0001508	Failure to thrive
ORPHA:772	PEX10	5192	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX10	5192	HP:0000708	Behavioral abnormality
ORPHA:772	PEX10	5192	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX10	5192	HP:0002240	Hepatomegaly
ORPHA:772	PEX10	5192	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX10	5192	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX10	5192	HP:0004322	Short stature
ORPHA:772	PEX10	5192	HP:0000662	Nyctalopia
ORPHA:772	PEX10	5192	HP:0001252	Muscular hypotonia
ORPHA:772	PEX10	5192	HP:0001257	Spasticity
ORPHA:772	PEX10	5192	HP:0001263	Global developmental delay
ORPHA:772	PEX10	5192	HP:0001251	Ataxia
ORPHA:772	PEX10	5192	HP:0000505	Visual impairment
ORPHA:772	PEX10	5192	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX10	5192	HP:0000639	Nystagmus
ORPHA:772	PEX10	5192	HP:0001508	Failure to thrive
ORPHA:772	PEX12	5193	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX12	5193	HP:0000708	Behavioral abnormality
ORPHA:772	PEX12	5193	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX12	5193	HP:0002240	Hepatomegaly
ORPHA:772	PEX12	5193	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX12	5193	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX12	5193	HP:0004322	Short stature
ORPHA:772	PEX12	5193	HP:0000662	Nyctalopia
ORPHA:772	PEX12	5193	HP:0001252	Muscular hypotonia
ORPHA:772	PEX12	5193	HP:0001257	Spasticity
ORPHA:772	PEX12	5193	HP:0001263	Global developmental delay
ORPHA:772	PEX12	5193	HP:0001251	Ataxia
ORPHA:772	PEX12	5193	HP:0000505	Visual impairment
ORPHA:772	PEX12	5193	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX12	5193	HP:0000639	Nystagmus
ORPHA:772	PEX12	5193	HP:0001508	Failure to thrive
ORPHA:772	PEX13	5194	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX13	5194	HP:0000708	Behavioral abnormality
ORPHA:772	PEX13	5194	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX13	5194	HP:0002240	Hepatomegaly
ORPHA:772	PEX13	5194	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX13	5194	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX13	5194	HP:0004322	Short stature
ORPHA:772	PEX13	5194	HP:0000662	Nyctalopia
ORPHA:772	PEX13	5194	HP:0001252	Muscular hypotonia
ORPHA:772	PEX13	5194	HP:0001257	Spasticity
ORPHA:772	PEX13	5194	HP:0001263	Global developmental delay
ORPHA:772	PEX13	5194	HP:0001251	Ataxia
ORPHA:772	PEX13	5194	HP:0000505	Visual impairment
ORPHA:772	PEX13	5194	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX13	5194	HP:0000639	Nystagmus
ORPHA:772	PEX13	5194	HP:0001508	Failure to thrive
ORPHA:772	PEX14	5195	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX14	5195	HP:0000708	Behavioral abnormality
ORPHA:772	PEX14	5195	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX14	5195	HP:0002240	Hepatomegaly
ORPHA:772	PEX14	5195	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX14	5195	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX14	5195	HP:0004322	Short stature
ORPHA:772	PEX14	5195	HP:0000662	Nyctalopia
ORPHA:772	PEX14	5195	HP:0001252	Muscular hypotonia
ORPHA:772	PEX14	5195	HP:0001257	Spasticity
ORPHA:772	PEX14	5195	HP:0001263	Global developmental delay
ORPHA:772	PEX14	5195	HP:0001251	Ataxia
ORPHA:772	PEX14	5195	HP:0000505	Visual impairment
ORPHA:772	PEX14	5195	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX14	5195	HP:0000639	Nystagmus
ORPHA:772	PEX14	5195	HP:0001508	Failure to thrive
ORPHA:772	PEX26	55670	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX26	55670	HP:0000708	Behavioral abnormality
ORPHA:772	PEX26	55670	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX26	55670	HP:0002240	Hepatomegaly
ORPHA:772	PEX26	55670	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX26	55670	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX26	55670	HP:0004322	Short stature
ORPHA:772	PEX26	55670	HP:0000662	Nyctalopia
ORPHA:772	PEX26	55670	HP:0001252	Muscular hypotonia
ORPHA:772	PEX26	55670	HP:0001257	Spasticity
ORPHA:772	PEX26	55670	HP:0001263	Global developmental delay
ORPHA:772	PEX26	55670	HP:0001251	Ataxia
ORPHA:772	PEX26	55670	HP:0000505	Visual impairment
ORPHA:772	PEX26	55670	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX26	55670	HP:0000639	Nystagmus
ORPHA:772	PEX26	55670	HP:0001508	Failure to thrive
ORPHA:772	PEX3	8504	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX3	8504	HP:0000708	Behavioral abnormality
ORPHA:772	PEX3	8504	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX3	8504	HP:0002240	Hepatomegaly
ORPHA:772	PEX3	8504	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX3	8504	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX3	8504	HP:0004322	Short stature
ORPHA:772	PEX3	8504	HP:0000662	Nyctalopia
ORPHA:772	PEX3	8504	HP:0001252	Muscular hypotonia
ORPHA:772	PEX3	8504	HP:0001257	Spasticity
ORPHA:772	PEX3	8504	HP:0001263	Global developmental delay
ORPHA:772	PEX3	8504	HP:0001251	Ataxia
ORPHA:772	PEX3	8504	HP:0000505	Visual impairment
ORPHA:772	PEX3	8504	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX3	8504	HP:0000639	Nystagmus
ORPHA:772	PEX3	8504	HP:0001508	Failure to thrive
ORPHA:772	PEX11B	8799	HP:0003323	Progressive muscle weakness
ORPHA:772	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHA:772	PEX11B	8799	HP:0000708	Behavioral abnormality
ORPHA:772	PEX11B	8799	HP:0008167	Very long chain fatty acid accumulation
ORPHA:772	PEX11B	8799	HP:0002240	Hepatomegaly
ORPHA:772	PEX11B	8799	HP:0000510	Rod-cone dystrophy
ORPHA:772	PEX11B	8799	HP:0001133	Constriction of peripheral visual field
ORPHA:772	PEX11B	8799	HP:0004322	Short stature
ORPHA:772	PEX11B	8799	HP:0000662	Nyctalopia
ORPHA:772	PEX11B	8799	HP:0001252	Muscular hypotonia
ORPHA:772	PEX11B	8799	HP:0001257	Spasticity
ORPHA:772	PEX11B	8799	HP:0001263	Global developmental delay
ORPHA:772	PEX11B	8799	HP:0001251	Ataxia
ORPHA:772	PEX11B	8799	HP:0000505	Visual impairment
ORPHA:772	PEX11B	8799	HP:0010571	Elevated levels of phytanic acid
ORPHA:772	PEX11B	8799	HP:0000639	Nystagmus
ORPHA:772	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:615803	CLP1	10978	HP:0000028	Cryptorchidism
OMIM:615803	CLP1	10978	HP:0000520	Proptosis
OMIM:615803	CLP1	10978	HP:0002120	Cerebral cortical atrophy
OMIM:615803	CLP1	10978	HP:0003577	Congenital onset
OMIM:615803	CLP1	10978	HP:0001263	Global developmental delay
OMIM:615803	CLP1	10978	HP:0012448	Delayed myelination
OMIM:615803	CLP1	10978	HP:0000218	High palate
OMIM:615803	CLP1	10978	HP:0000219	Thin upper lip vermilion
OMIM:615803	CLP1	10978	HP:0001298	Encephalopathy
OMIM:615803	CLP1	10978	HP:0009879	Cortical gyral simplification
OMIM:615803	CLP1	10978	HP:0001347	Hyperreflexia
OMIM:615803	CLP1	10978	HP:0000430	Underdeveloped nasal alae
OMIM:615803	CLP1	10978	HP:0000639	Nystagmus
OMIM:615803	CLP1	10978	HP:0003196	Short nose
OMIM:615803	CLP1	10978	HP:0000007	Autosomal recessive inheritance
OMIM:615803	CLP1	10978	HP:0000253	Progressive microcephaly
OMIM:615803	CLP1	10978	HP:0000637	Long palpebral fissure
OMIM:615803	CLP1	10978	HP:0000527	Long eyelashes
OMIM:615803	CLP1	10978	HP:0000565	Esotropia
OMIM:615803	CLP1	10978	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615803	CLP1	10978	HP:0000252	Microcephaly
OMIM:615803	CLP1	10978	HP:0000817	Poor eye contact
OMIM:615803	CLP1	10978	HP:0001257	Spasticity
OMIM:615803	CLP1	10978	HP:0001344	Absent speech
OMIM:615803	CLP1	10978	HP:0000431	Wide nasal bridge
OMIM:615803	CLP1	10978	HP:0001510	Growth delay
OMIM:615803	CLP1	10978	HP:0002553	Highly arched eyebrow
OMIM:615803	CLP1	10978	HP:0002119	Ventriculomegaly
ORPHA:750	COMP	1311	HP:0002758	Osteoarthritis
ORPHA:750	COMP	1311	HP:0004236	Irregular carpal bones
ORPHA:750	COMP	1311	HP:0001773	Short foot
ORPHA:750	COMP	1311	HP:0003272	Abnormality of the hip bone
ORPHA:750	COMP	1311	HP:0003307	Hyperlordosis
ORPHA:750	COMP	1311	HP:0005930	Abnormality of epiphysis morphology
ORPHA:750	COMP	1311	HP:0001288	Gait disturbance
ORPHA:750	COMP	1311	HP:0002750	Delayed skeletal maturation
ORPHA:750	COMP	1311	HP:0005692	Joint hyperflexibility
ORPHA:750	COMP	1311	HP:0008873	Disproportionate short-limb short stature
ORPHA:750	COMP	1311	HP:0002983	Micromelia
ORPHA:750	COMP	1311	HP:0000926	Platyspondyly
ORPHA:750	COMP	1311	HP:0002650	Scoliosis
ORPHA:750	COMP	1311	HP:0010049	Short metacarpal
ORPHA:750	COMP	1311	HP:0002829	Arthralgia
ORPHA:750	COMP	1311	HP:0000944	Abnormality of the metaphysis
ORPHA:750	COMP	1311	HP:0004390	Hamartomatous polyposis
ORPHA:750	COMP	1311	HP:0200008	Intestinal polyposis
ORPHA:750	COMP	1311	HP:0004279	Short palm
OMIM:615673	MICU1	10367	HP:0002355	Difficulty walking
OMIM:615673	MICU1	10367	HP:0001270	Motor delay
OMIM:615673	MICU1	10367	HP:0009046	Difficulty running
OMIM:615673	MICU1	10367	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615673	MICU1	10367	HP:0000007	Autosomal recessive inheritance
OMIM:611087	STRADA	92335	HP:0000194	Open mouth
OMIM:611087	STRADA	92335	HP:0001263	Global developmental delay
OMIM:611087	STRADA	92335	HP:0001249	Intellectual disability
OMIM:611087	STRADA	92335	HP:0011968	Feeding difficulties
OMIM:611087	STRADA	92335	HP:0000007	Autosomal recessive inheritance
OMIM:611087	STRADA	92335	HP:0002540	Inability to walk
OMIM:611087	STRADA	92335	HP:0002355	Difficulty walking
OMIM:611087	STRADA	92335	HP:0000486	Strabismus
OMIM:611087	STRADA	92335	HP:0002119	Ventriculomegaly
OMIM:611087	STRADA	92335	HP:0000297	Facial hypotonia
OMIM:611087	STRADA	92335	HP:0002446	Astrocytosis
OMIM:611087	STRADA	92335	HP:0001290	Generalized hypotonia
OMIM:611087	STRADA	92335	HP:0001250	Seizures
OMIM:611087	STRADA	92335	HP:0001355	Megalencephaly
OMIM:300696	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300696	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:300696	FHL1	2273	HP:0001419	X-linked recessive inheritance
OMIM:300696	FHL1	2273	HP:0002093	Respiratory insufficiency
OMIM:300696	FHL1	2273	HP:0003306	Spinal rigidity
OMIM:300696	FHL1	2273	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300696	FHL1	2273	HP:0003704	Scapuloperoneal weakness
OMIM:300696	FHL1	2273	HP:0003418	Back pain
OMIM:300696	FHL1	2273	HP:0003676	Progressive
OMIM:300696	FHL1	2273	HP:0000470	Short neck
OMIM:300696	FHL1	2273	HP:0003691	Scapular winging
OMIM:300696	FHL1	2273	HP:0011675	Arrhythmia
OMIM:300696	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300696	FHL1	2273	HP:0003805	Rimmed vacuoles
OMIM:273800	ITGA2B	3674	HP:0000132	Menorrhagia
OMIM:273800	ITGA2B	3674	HP:0000978	Bruising susceptibility
OMIM:273800	ITGA2B	3674	HP:0001975	Decreased platelet glycoprotein IIb-IIIa
OMIM:273800	ITGA2B	3674	HP:0000225	Gingival bleeding
OMIM:273800	ITGA2B	3674	HP:0000007	Autosomal recessive inheritance
OMIM:273800	ITGA2B	3674	HP:0002170	Intracranial hemorrhage
OMIM:273800	ITGA2B	3674	HP:0002239	Gastrointestinal hemorrhage
OMIM:273800	ITGA2B	3674	HP:0000421	Epistaxis
OMIM:273800	ITGA2B	3674	HP:0000979	Purpura
OMIM:273800	ITGA2B	3674	HP:0003540	Impaired platelet aggregation
OMIM:273800	ITGA2B	3674	HP:0003010	Prolonged bleeding time
OMIM:273800	ITGB3	3690	HP:0000132	Menorrhagia
OMIM:273800	ITGB3	3690	HP:0000978	Bruising susceptibility
OMIM:273800	ITGB3	3690	HP:0001975	Decreased platelet glycoprotein IIb-IIIa
OMIM:273800	ITGB3	3690	HP:0000225	Gingival bleeding
OMIM:273800	ITGB3	3690	HP:0000007	Autosomal recessive inheritance
OMIM:273800	ITGB3	3690	HP:0002170	Intracranial hemorrhage
OMIM:273800	ITGB3	3690	HP:0002239	Gastrointestinal hemorrhage
OMIM:273800	ITGB3	3690	HP:0000421	Epistaxis
OMIM:273800	ITGB3	3690	HP:0000979	Purpura
OMIM:273800	ITGB3	3690	HP:0003540	Impaired platelet aggregation
OMIM:273800	ITGB3	3690	HP:0003010	Prolonged bleeding time
OMIM:614924	EARS2	124454	HP:0001319	Neonatal hypotonia
OMIM:614924	EARS2	124454	HP:0003593	Infantile onset
OMIM:614924	EARS2	124454	HP:0011924	Decreased activity of mitochondrial complex III
OMIM:614924	EARS2	124454	HP:0001508	Failure to thrive
OMIM:614924	EARS2	124454	HP:0000508	Ptosis
OMIM:614924	EARS2	124454	HP:0002067	Bradykinesia
OMIM:614924	EARS2	124454	HP:0002151	Increased serum lactate
OMIM:614924	EARS2	124454	HP:0003200	Ragged-red muscle fibers
OMIM:614924	EARS2	124454	HP:0000007	Autosomal recessive inheritance
OMIM:614924	EARS2	124454	HP:0001285	Spastic tetraparesis
OMIM:614924	EARS2	124454	HP:0003128	Lactic acidosis
OMIM:614924	EARS2	124454	HP:0002376	Developmental regression
OMIM:614924	EARS2	124454	HP:0001250	Seizures
OMIM:614924	EARS2	124454	HP:0001263	Global developmental delay
OMIM:614924	EARS2	124454	HP:0008347	Decreased activity of mitochondrial complex IV
OMIM:614924	EARS2	124454	HP:0000505	Visual impairment
OMIM:614924	EARS2	124454	HP:0001344	Absent speech
OMIM:614924	EARS2	124454	HP:0001332	Dystonia
OMIM:614924	EARS2	124454	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614924	EARS2	124454	HP:0011923	Decreased activity of mitochondrial complex I
OMIM:614924	EARS2	124454	HP:0000602	Ophthalmoplegia
OMIM:614924	EARS2	124454	HP:0006989	Dysplastic corpus callosum
OMIM:614924	EARS2	124454	HP:0002352	Leukoencephalopathy
OMIM:134700	G6PD	2539	HP:0000006	Autosomal dominant inheritance
OMIM:134700	G6PD	2539	HP:0004814	Fava bean-induced hemolytic anemia
OMIM:615551	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:615551	SCN10A	6336	HP:0031005	Hyperalgesia
OMIM:615551	SCN10A	6336	HP:0003581	Adult onset
ORPHA:70592	IRAK4	51135	HP:0005366	Recurrent streptococcus pneumoniae infections
ORPHA:70592	IRAK4	51135	HP:0007499	Recurrent staphylococcal infections
ORPHA:70592	IRAK4	51135	HP:0002721	Immunodeficiency
ORPHA:70592	IRAK4	51135	HP:0001875	Neutropenia
OMIM:300200	NR0B1	190	HP:0001944	Dehydration
OMIM:300200	NR0B1	190	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:300200	NR0B1	190	HP:0000798	Oligospermia
OMIM:300200	NR0B1	190	HP:0001508	Failure to thrive
OMIM:300200	NR0B1	190	HP:0000007	Autosomal recessive inheritance
OMIM:300200	NR0B1	190	HP:0003560	Muscular dystrophy
OMIM:300200	NR0B1	190	HP:0000028	Cryptorchidism
OMIM:300200	NR0B1	190	HP:0000823	Delayed puberty
OMIM:300200	NR0B1	190	HP:0000826	Precocious puberty
OMIM:300200	NR0B1	190	HP:0004319	Decreased circulating aldosterone level
OMIM:300200	NR0B1	190	HP:0000127	Renal salt wasting
OMIM:300200	NR0B1	190	HP:0000953	Hyperpigmentation of the skin
OMIM:300200	NR0B1	190	HP:0000835	Adrenal hypoplasia
OMIM:300200	NR0B1	190	HP:0008197	Absence of pubertal development
OMIM:300200	NR0B1	190	HP:0008163	Decreased circulating cortisol level
OMIM:300200	NR0B1	190	HP:0001419	X-linked recessive inheritance
OMIM:300200	NR0B1	190	HP:0002902	Hyponatremia
OMIM:300200	NR0B1	190	HP:0000027	Azoospermia
ORPHA:444490	LMF1	64788	HP:0000660	Lipemia retinalis
ORPHA:444490	LMF1	64788	HP:0001433	Hepatosplenomegaly
ORPHA:444490	LMF1	64788	HP:0002155	Hypertriglyceridemia
ORPHA:444490	LMF1	64788	HP:0002574	Episodic abdominal pain
ORPHA:444490	LMF1	64788	HP:0001397	Hepatic steatosis
ORPHA:444490	LMF1	64788	HP:0001735	Acute pancreatitis
ORPHA:444490	LMF1	64788	HP:0001013	Eruptive xanthomas
ORPHA:444490	LMF1	64788	HP:0012238	Increased circulating chylomicron levels
ORPHA:444490	LMF1	64788	HP:0100027	Recurrent pancreatitis
ORPHA:444490	GPIHBP1	338328	HP:0000660	Lipemia retinalis
ORPHA:444490	GPIHBP1	338328	HP:0001433	Hepatosplenomegaly
ORPHA:444490	GPIHBP1	338328	HP:0002155	Hypertriglyceridemia
ORPHA:444490	GPIHBP1	338328	HP:0002574	Episodic abdominal pain
ORPHA:444490	GPIHBP1	338328	HP:0001397	Hepatic steatosis
ORPHA:444490	GPIHBP1	338328	HP:0001735	Acute pancreatitis
ORPHA:444490	GPIHBP1	338328	HP:0001013	Eruptive xanthomas
ORPHA:444490	GPIHBP1	338328	HP:0012238	Increased circulating chylomicron levels
ORPHA:444490	GPIHBP1	338328	HP:0100027	Recurrent pancreatitis
OMIM:608837	MYH8	4626	HP:0005684	Distal arthrogryposis
OMIM:608837	MYH8	4626	HP:0000006	Autosomal dominant inheritance
OMIM:608837	MYH8	4626	HP:0011672	Cardiac myxoma
OMIM:608837	MYH8	4626	HP:0000211	Trismus
ORPHA:3107	DVL3	1857	HP:0008736	Hypoplasia of penis
ORPHA:3107	DVL3	1857	HP:0007665	Curly eyelashes
ORPHA:3107	DVL3	1857	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3107	DVL3	1857	HP:0001537	Umbilical hernia
ORPHA:3107	DVL3	1857	HP:0005280	Depressed nasal bridge
ORPHA:3107	DVL3	1857	HP:0003510	Severe short stature
ORPHA:3107	DVL3	1857	HP:0000520	Proptosis
ORPHA:3107	DVL3	1857	HP:0000767	Pectus excavatum
ORPHA:3107	DVL3	1857	HP:0010297	Bifid tongue
ORPHA:3107	DVL3	1857	HP:0000212	Gingival overgrowth
ORPHA:3107	DVL3	1857	HP:0000256	Macrocephaly
ORPHA:3107	DVL3	1857	HP:0002937	Hemivertebrae
ORPHA:3107	DVL3	1857	HP:0000343	Long philtrum
ORPHA:3107	DVL3	1857	HP:0000637	Long palpebral fissure
ORPHA:3107	DVL3	1857	HP:0008501	Median cleft lip and palate
ORPHA:3107	DVL3	1857	HP:0000059	Hypoplastic labia majora
ORPHA:3107	DVL3	1857	HP:0002983	Micromelia
ORPHA:3107	DVL3	1857	HP:0002714	Downturned corners of mouth
ORPHA:3107	DVL3	1857	HP:0001156	Brachydactyly
ORPHA:3107	DVL3	1857	HP:0000028	Cryptorchidism
ORPHA:3107	DVL3	1857	HP:0000316	Hypertelorism
ORPHA:3107	DVL3	1857	HP:0011800	Midface retrusion
ORPHA:3107	DVL3	1857	HP:0000463	Anteverted nares
ORPHA:3107	DVL3	1857	HP:0000431	Wide nasal bridge
ORPHA:3107	DVL3	1857	HP:0000278	Retrognathia
ORPHA:3107	DVL3	1857	HP:0012905	Euryblepharon
ORPHA:3107	DVL3	1857	HP:0000445	Wide nose
ORPHA:3107	DVL3	1857	HP:0004279	Short palm
ORPHA:3107	DVL3	1857	HP:0000064	Hypoplastic labia minora
ORPHA:3107	DVL3	1857	HP:0002705	High, narrow palate
ORPHA:3107	DVL3	1857	HP:0003196	Short nose
ORPHA:3107	DVL3	1857	HP:0002007	Frontal bossing
ORPHA:3107	DVL3	1857	HP:0000582	Upslanted palpebral fissure
ORPHA:3107	DVL3	1857	HP:0011220	Prominent forehead
ORPHA:3107	DVL3	1857	HP:0000347	Micrognathia
ORPHA:3107	DVL3	1857	HP:0000060	Clitoral hypoplasia
ORPHA:3107	DVL3	1857	HP:0010807	Open bite
ORPHA:3107	DVL3	1857	HP:0000286	Epicanthus
ORPHA:3107	DVL3	1857	HP:0000527	Long eyelashes
ORPHA:3107	WNT5A	7474	HP:0008736	Hypoplasia of penis
ORPHA:3107	WNT5A	7474	HP:0007665	Curly eyelashes
ORPHA:3107	WNT5A	7474	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3107	WNT5A	7474	HP:0001537	Umbilical hernia
ORPHA:3107	WNT5A	7474	HP:0005280	Depressed nasal bridge
ORPHA:3107	WNT5A	7474	HP:0003510	Severe short stature
ORPHA:3107	WNT5A	7474	HP:0000520	Proptosis
ORPHA:3107	WNT5A	7474	HP:0000767	Pectus excavatum
ORPHA:3107	WNT5A	7474	HP:0010297	Bifid tongue
ORPHA:3107	WNT5A	7474	HP:0000212	Gingival overgrowth
ORPHA:3107	WNT5A	7474	HP:0000256	Macrocephaly
ORPHA:3107	WNT5A	7474	HP:0002937	Hemivertebrae
ORPHA:3107	WNT5A	7474	HP:0000343	Long philtrum
ORPHA:3107	WNT5A	7474	HP:0000637	Long palpebral fissure
ORPHA:3107	WNT5A	7474	HP:0008501	Median cleft lip and palate
ORPHA:3107	WNT5A	7474	HP:0000059	Hypoplastic labia majora
ORPHA:3107	WNT5A	7474	HP:0002983	Micromelia
ORPHA:3107	WNT5A	7474	HP:0002714	Downturned corners of mouth
ORPHA:3107	WNT5A	7474	HP:0001156	Brachydactyly
ORPHA:3107	WNT5A	7474	HP:0000028	Cryptorchidism
ORPHA:3107	WNT5A	7474	HP:0000316	Hypertelorism
ORPHA:3107	WNT5A	7474	HP:0011800	Midface retrusion
ORPHA:3107	WNT5A	7474	HP:0000463	Anteverted nares
ORPHA:3107	WNT5A	7474	HP:0000431	Wide nasal bridge
ORPHA:3107	WNT5A	7474	HP:0000278	Retrognathia
ORPHA:3107	WNT5A	7474	HP:0012905	Euryblepharon
ORPHA:3107	WNT5A	7474	HP:0000445	Wide nose
ORPHA:3107	WNT5A	7474	HP:0004279	Short palm
ORPHA:3107	WNT5A	7474	HP:0000064	Hypoplastic labia minora
ORPHA:3107	WNT5A	7474	HP:0002705	High, narrow palate
ORPHA:3107	WNT5A	7474	HP:0003196	Short nose
ORPHA:3107	WNT5A	7474	HP:0002007	Frontal bossing
ORPHA:3107	WNT5A	7474	HP:0000582	Upslanted palpebral fissure
ORPHA:3107	WNT5A	7474	HP:0011220	Prominent forehead
ORPHA:3107	WNT5A	7474	HP:0000347	Micrognathia
ORPHA:3107	WNT5A	7474	HP:0000060	Clitoral hypoplasia
ORPHA:3107	WNT5A	7474	HP:0010807	Open bite
ORPHA:3107	WNT5A	7474	HP:0000286	Epicanthus
ORPHA:3107	WNT5A	7474	HP:0000527	Long eyelashes
ORPHA:3107	DVL1	1855	HP:0008736	Hypoplasia of penis
ORPHA:3107	DVL1	1855	HP:0007665	Curly eyelashes
ORPHA:3107	DVL1	1855	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3107	DVL1	1855	HP:0001537	Umbilical hernia
ORPHA:3107	DVL1	1855	HP:0005280	Depressed nasal bridge
ORPHA:3107	DVL1	1855	HP:0003510	Severe short stature
ORPHA:3107	DVL1	1855	HP:0000520	Proptosis
ORPHA:3107	DVL1	1855	HP:0000767	Pectus excavatum
ORPHA:3107	DVL1	1855	HP:0010297	Bifid tongue
ORPHA:3107	DVL1	1855	HP:0000212	Gingival overgrowth
ORPHA:3107	DVL1	1855	HP:0000256	Macrocephaly
ORPHA:3107	DVL1	1855	HP:0002937	Hemivertebrae
ORPHA:3107	DVL1	1855	HP:0000343	Long philtrum
ORPHA:3107	DVL1	1855	HP:0000637	Long palpebral fissure
ORPHA:3107	DVL1	1855	HP:0008501	Median cleft lip and palate
ORPHA:3107	DVL1	1855	HP:0000059	Hypoplastic labia majora
ORPHA:3107	DVL1	1855	HP:0002983	Micromelia
ORPHA:3107	DVL1	1855	HP:0002714	Downturned corners of mouth
ORPHA:3107	DVL1	1855	HP:0001156	Brachydactyly
ORPHA:3107	DVL1	1855	HP:0000028	Cryptorchidism
ORPHA:3107	DVL1	1855	HP:0000316	Hypertelorism
ORPHA:3107	DVL1	1855	HP:0011800	Midface retrusion
ORPHA:3107	DVL1	1855	HP:0000463	Anteverted nares
ORPHA:3107	DVL1	1855	HP:0000431	Wide nasal bridge
ORPHA:3107	DVL1	1855	HP:0000278	Retrognathia
ORPHA:3107	DVL1	1855	HP:0012905	Euryblepharon
ORPHA:3107	DVL1	1855	HP:0000445	Wide nose
ORPHA:3107	DVL1	1855	HP:0004279	Short palm
ORPHA:3107	DVL1	1855	HP:0000064	Hypoplastic labia minora
ORPHA:3107	DVL1	1855	HP:0002705	High, narrow palate
ORPHA:3107	DVL1	1855	HP:0003196	Short nose
ORPHA:3107	DVL1	1855	HP:0002007	Frontal bossing
ORPHA:3107	DVL1	1855	HP:0000582	Upslanted palpebral fissure
ORPHA:3107	DVL1	1855	HP:0011220	Prominent forehead
ORPHA:3107	DVL1	1855	HP:0000347	Micrognathia
ORPHA:3107	DVL1	1855	HP:0000060	Clitoral hypoplasia
ORPHA:3107	DVL1	1855	HP:0010807	Open bite
ORPHA:3107	DVL1	1855	HP:0000286	Epicanthus
ORPHA:3107	DVL1	1855	HP:0000527	Long eyelashes
OMIM:224410	HSPG2	3339	HP:0000160	Narrow mouth
OMIM:224410	HSPG2	3339	HP:0002089	Pulmonary hypoplasia
OMIM:224410	HSPG2	3339	HP:0000007	Autosomal recessive inheritance
OMIM:224410	HSPG2	3339	HP:0003026	Short long bone
OMIM:224410	HSPG2	3339	HP:0000358	Posteriorly rotated ears
OMIM:224410	HSPG2	3339	HP:0000431	Wide nasal bridge
OMIM:224410	HSPG2	3339	HP:0002879	Anisospondyly
OMIM:224410	HSPG2	3339	HP:0000272	Malar flattening
OMIM:224410	HSPG2	3339	HP:0004298	Abnormality of the abdominal wall
OMIM:224410	HSPG2	3339	HP:0008873	Disproportionate short-limb short stature
OMIM:224410	HSPG2	3339	HP:0001762	Talipes equinovarus
OMIM:224410	HSPG2	3339	HP:0000347	Micrognathia
OMIM:224410	HSPG2	3339	HP:0003811	Neonatal death
OMIM:224410	HSPG2	3339	HP:0006487	Bowing of the long bones
OMIM:224410	HSPG2	3339	HP:0012368	Flat face
OMIM:224410	HSPG2	3339	HP:0005257	Thoracic hypoplasia
OMIM:224410	HSPG2	3339	HP:0001362	Calvarial skull defect
OMIM:224410	HSPG2	3339	HP:0001548	Overgrowth
OMIM:224410	HSPG2	3339	HP:0000028	Cryptorchidism
OMIM:614337	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:614337	PMS2	5395	HP:0012114	Endometrial carcinoma
OMIM:614337	PMS2	5395	HP:0100615	Ovarian neoplasm
OMIM:614337	PMS2	5395	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:609812	CEL	1056	HP:0012092	Abnormality of exocrine pancreas physiology
OMIM:609812	CEL	1056	HP:0002027	Abdominal pain
OMIM:609812	CEL	1056	HP:0004904	Maturity-onset diabetes of the young
OMIM:609812	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:614937	NOL3	8996	HP:0002527	Falls
OMIM:614937	NOL3	8996	HP:0003581	Adult onset
OMIM:614937	NOL3	8996	HP:0003677	Slow progression
OMIM:614937	NOL3	8996	HP:0001251	Ataxia
OMIM:614937	NOL3	8996	HP:0000006	Autosomal dominant inheritance
OMIM:614937	NOL3	8996	HP:0001336	Myoclonus
OMIM:614420	DNASE1L3	1776	HP:0000007	Autosomal recessive inheritance
OMIM:614420	DNASE1L3	1776	HP:0000123	Nephritis
OMIM:614420	DNASE1L3	1776	HP:0002725	Systemic lupus erythematosus
ORPHA:628	SLC26A2	1836	HP:0002205	Recurrent respiratory infections
ORPHA:628	SLC26A2	1836	HP:0005930	Abnormality of epiphysis morphology
ORPHA:628	SLC26A2	1836	HP:0011800	Midface retrusion
ORPHA:628	SLC26A2	1836	HP:0000316	Hypertelorism
ORPHA:628	SLC26A2	1836	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:628	SLC26A2	1836	HP:0009748	Large earlobe
ORPHA:628	SLC26A2	1836	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:628	SLC26A2	1836	HP:0000592	Blue sclerae
ORPHA:628	SLC26A2	1836	HP:0002650	Scoliosis
ORPHA:628	SLC26A2	1836	HP:0001385	Hip dysplasia
ORPHA:628	SLC26A2	1836	HP:0001163	Abnormality of the metacarpal bones
ORPHA:628	SLC26A2	1836	HP:0009623	Proximal placement of thumb
ORPHA:628	SLC26A2	1836	HP:0000944	Abnormality of the metaphysis
ORPHA:628	SLC26A2	1836	HP:0002093	Respiratory insufficiency
ORPHA:628	SLC26A2	1836	HP:0000772	Abnormality of the ribs
ORPHA:628	SLC26A2	1836	HP:0000889	Abnormality of the clavicle
ORPHA:628	SLC26A2	1836	HP:0011001	Increased bone mineral density
ORPHA:628	SLC26A2	1836	HP:0001387	Joint stiffness
ORPHA:628	SLC26A2	1836	HP:0000256	Macrocephaly
ORPHA:628	SLC26A2	1836	HP:0008921	Neonatal short-limb short stature
ORPHA:628	SLC26A2	1836	HP:0000396	Overfolded helix
ORPHA:628	SLC26A2	1836	HP:0009465	Ulnar deviation of finger
ORPHA:628	SLC26A2	1836	HP:0005280	Depressed nasal bridge
ORPHA:628	SLC26A2	1836	HP:0008434	Hypoplastic cervical vertebrae
ORPHA:628	SLC26A2	1836	HP:0001252	Muscular hypotonia
ORPHA:628	SLC26A2	1836	HP:0002808	Kyphosis
ORPHA:628	SLC26A2	1836	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:628	SLC26A2	1836	HP:0000175	Cleft palate
ORPHA:628	SLC26A2	1836	HP:0006487	Bowing of the long bones
ORPHA:628	SLC26A2	1836	HP:0000293	Full cheeks
ORPHA:628	SLC26A2	1836	HP:0009381	Short finger
ORPHA:628	SLC26A2	1836	HP:0001511	Intrauterine growth retardation
ORPHA:628	SLC26A2	1836	HP:0002983	Micromelia
ORPHA:628	SLC26A2	1836	HP:0100490	Camptodactyly of finger
OMIM:615829	AHDC1	27245	HP:0000347	Micrognathia
OMIM:615829	AHDC1	27245	HP:0002870	Obstructive sleep apnea
OMIM:615829	AHDC1	27245	HP:0001508	Failure to thrive
OMIM:615829	AHDC1	27245	HP:0001601	Laryngomalacia
OMIM:615829	AHDC1	27245	HP:0000316	Hypertelorism
OMIM:615829	AHDC1	27245	HP:0001290	Generalized hypotonia
OMIM:615829	AHDC1	27245	HP:0005280	Depressed nasal bridge
OMIM:615829	AHDC1	27245	HP:0001249	Intellectual disability
OMIM:615829	AHDC1	27245	HP:0000494	Downslanted palpebral fissures
OMIM:615829	AHDC1	27245	HP:0009879	Cortical gyral simplification
OMIM:615829	AHDC1	27245	HP:0009909	Uplifted earlobe
OMIM:615829	AHDC1	27245	HP:0000582	Upslanted palpebral fissure
OMIM:615829	AHDC1	27245	HP:0012448	Delayed myelination
OMIM:615829	AHDC1	27245	HP:0000369	Low-set ears
OMIM:615829	AHDC1	27245	HP:0000006	Autosomal dominant inheritance
OMIM:615829	AHDC1	27245	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615829	AHDC1	27245	HP:0001263	Global developmental delay
OMIM:615829	AHDC1	27245	HP:0025267	Snoring
OMIM:615829	AHDC1	27245	HP:0000565	Esotropia
OMIM:614433	CITED2	10370	HP:0001631	Atrial septal defect
OMIM:614433	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:601214	JUP	3728	HP:0001699	Sudden death
OMIM:601214	JUP	3728	HP:0000982	Palmoplantar keratoderma
OMIM:601214	JUP	3728	HP:0001640	Cardiomegaly
OMIM:601214	JUP	3728	HP:0001030	Fragile skin
OMIM:601214	JUP	3728	HP:0002212	Curly hair
OMIM:601214	JUP	3728	HP:0001644	Dilated cardiomyopathy
OMIM:601214	JUP	3728	HP:0025092	Epidermal acanthosis
OMIM:601214	JUP	3728	HP:0100792	Acantholysis
OMIM:601214	JUP	3728	HP:0000007	Autosomal recessive inheritance
OMIM:601214	JUP	3728	HP:0001806	Onycholysis
OMIM:601214	JUP	3728	HP:0001635	Congestive heart failure
OMIM:601214	JUP	3728	HP:0002224	Woolly hair
OMIM:601214	JUP	3728	HP:0008404	Nail dystrophy
OMIM:601214	JUP	3728	HP:0005141	Episodes of ventricular tachycardia
OMIM:601214	JUP	3728	HP:0000535	Sparse and thin eyebrow
OMIM:601718	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:601718	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:601718	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ABCA4	24	HP:0000505	Visual impairment
OMIM:601718	ABCA4	24	HP:0000662	Nyctalopia
OMIM:601718	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:601718	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:601718	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:327	F7	2155	HP:0000225	Gingival bleeding
ORPHA:327	F7	2155	HP:0002170	Intracranial hemorrhage
ORPHA:327	F7	2155	HP:0000978	Bruising susceptibility
ORPHA:327	F7	2155	HP:0005261	Joint hemorrhage
ORPHA:327	F7	2155	HP:0004846	Prolonged bleeding after surgery
ORPHA:327	F7	2155	HP:0002239	Gastrointestinal hemorrhage
ORPHA:327	F7	2155	HP:0000132	Menorrhagia
ORPHA:327	F7	2155	HP:0000421	Epistaxis
ORPHA:327	F7	2155	HP:0008151	Prolonged prothrombin time
OMIM:616469	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:616469	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:616469	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:616469	ZNF408	79797	HP:0000613	Photophobia
OMIM:616469	ZNF408	79797	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:616469	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ZNF408	79797	HP:0000662	Nyctalopia
ORPHA:643	GAN	8139	HP:0001762	Talipes equinovarus
ORPHA:643	GAN	8139	HP:0002224	Woolly hair
ORPHA:643	GAN	8139	HP:0002317	Unsteady gait
ORPHA:643	GAN	8139	HP:0001761	Pes cavus
ORPHA:643	GAN	8139	HP:0003429	CNS hypomyelination
ORPHA:643	GAN	8139	HP:0010628	Facial palsy
ORPHA:643	GAN	8139	HP:0001257	Spasticity
ORPHA:643	GAN	8139	HP:0005922	Abnormal hand morphology
ORPHA:643	GAN	8139	HP:0001290	Generalized hypotonia
ORPHA:643	GAN	8139	HP:0001317	Abnormality of the cerebellum
ORPHA:643	GAN	8139	HP:0002460	Distal muscle weakness
ORPHA:643	GAN	8139	HP:0002235	Pili canaliculi
ORPHA:643	GAN	8139	HP:0001382	Joint hypermobility
ORPHA:643	GAN	8139	HP:0003405	Diffuse axonal swelling
ORPHA:643	GAN	8139	HP:0001249	Intellectual disability
ORPHA:643	GAN	8139	HP:0003701	Proximal muscle weakness
ORPHA:643	GAN	8139	HP:0002650	Scoliosis
ORPHA:643	GAN	8139	HP:0002936	Distal sensory impairment
ORPHA:643	GAN	8139	HP:0005109	Abnormality of the Achilles tendon
ORPHA:643	GAN	8139	HP:0001284	Areflexia
ORPHA:643	GAN	8139	HP:0002355	Difficulty walking
OMIM:601705	FOXN1	8456	HP:0001803	Nail pits
OMIM:601705	FOXN1	8456	HP:0000007	Autosomal recessive inheritance
OMIM:601705	FOXN1	8456	HP:0005352	Severe T-cell immunodeficiency
OMIM:601705	FOXN1	8456	HP:0008404	Nail dystrophy
OMIM:601705	FOXN1	8456	HP:0001596	Alopecia
OMIM:601705	FOXN1	8456	HP:0001807	Ridged nail
OMIM:601705	FOXN1	8456	HP:0008165	Reduced circulating T-helper cells
OMIM:162400	SPTLC1	10558	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:162400	SPTLC1	10558	HP:0007267	Chronic axonal neuropathy
OMIM:162400	SPTLC1	10558	HP:0000951	Abnormality of the skin
OMIM:162400	SPTLC1	10558	HP:0001868	Autoamputation of foot
OMIM:162400	SPTLC1	10558	HP:0001886	Foot osteomyelitis
OMIM:162400	SPTLC1	10558	HP:0002936	Distal sensory impairment
OMIM:162400	SPTLC1	10558	HP:0000006	Autosomal dominant inheritance
OMIM:162400	SPTLC1	10558	HP:0006984	Distal sensory loss of all modalities
OMIM:162400	SPTLC1	10558	HP:0001284	Areflexia
OMIM:162400	SPTLC1	10558	HP:0002460	Distal muscle weakness
OMIM:162400	SPTLC1	10558	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:162400	SPTLC1	10558	HP:0000407	Sensorineural hearing impairment
OMIM:162400	SPTLC1	10558	HP:0003202	Skeletal muscle atrophy
OMIM:162400	SPTLC1	10558	HP:0001265	Hyporeflexia
OMIM:162400	SPTLC1	10558	HP:0001761	Pes cavus
OMIM:168000	SDHD	6392	HP:0003581	Adult onset
OMIM:168000	SDHD	6392	HP:0002640	Hypertension associated with pheochromocytoma
OMIM:168000	SDHD	6392	HP:0006715	Glomus tympanicum paraganglioma
OMIM:168000	SDHD	6392	HP:0003001	Glomus jugular tumor
OMIM:168000	SDHD	6392	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHD	6392	HP:0001605	Vocal cord paralysis
OMIM:168000	SDHD	6392	HP:0000740	Episodic paroxysmal anxiety
OMIM:168000	SDHD	6392	HP:0002886	Vagal paraganglioma
OMIM:168000	SDHD	6392	HP:0001962	Palpitations
OMIM:168000	SDHD	6392	HP:0001686	Loss of voice
OMIM:168000	SDHD	6392	HP:0008629	Pulsatile tinnitus
OMIM:168000	SDHD	6392	HP:0001609	Hoarse voice
OMIM:168000	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHD	6392	HP:0001649	Tachycardia
OMIM:168000	SDHD	6392	HP:0030074	Chemodectoma
OMIM:168000	SDHD	6392	HP:0003334	Elevated circulating catecholamine level
OMIM:168000	SDHD	6392	HP:0006824	Cranial nerve paralysis
OMIM:168000	SDHD	6392	HP:0000975	Hyperhidrosis
OMIM:168000	SDHD	6392	HP:0002331	Recurrent paroxysmal headache
OMIM:603511	DNAJB6	10049	HP:0003391	Gowers sign
OMIM:603511	DNAJB6	10049	HP:0000006	Autosomal dominant inheritance
OMIM:603511	DNAJB6	10049	HP:0003749	Pelvic girdle muscle weakness
OMIM:603511	DNAJB6	10049	HP:0003581	Adult onset
OMIM:603511	DNAJB6	10049	HP:0003677	Slow progression
OMIM:603511	DNAJB6	10049	HP:0003551	Difficulty climbing stairs
OMIM:603511	DNAJB6	10049	HP:0003236	Elevated serum creatine phosphokinase
OMIM:603511	DNAJB6	10049	HP:0003560	Muscular dystrophy
OMIM:603511	DNAJB6	10049	HP:0003555	Muscle fiber splitting
OMIM:603511	DNAJB6	10049	HP:0002015	Dysphagia
OMIM:603511	DNAJB6	10049	HP:0002515	Waddling gait
OMIM:603511	DNAJB6	10049	HP:0003547	Shoulder girdle muscle weakness
OMIM:603511	DNAJB6	10049	HP:0003805	Rimmed vacuoles
ORPHA:1587	RB1	5925	HP:0000470	Short neck
ORPHA:1587	RB1	5925	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1587	RB1	5925	HP:0000411	Protruding ear
ORPHA:1587	RB1	5925	HP:0000286	Epicanthus
ORPHA:1587	RB1	5925	HP:0000391	Thickened helices
ORPHA:1587	RB1	5925	HP:0000347	Micrognathia
ORPHA:1587	RB1	5925	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1587	RB1	5925	HP:0000252	Microcephaly
ORPHA:1587	RB1	5925	HP:0001249	Intellectual disability
ORPHA:1587	RB1	5925	HP:0007477	Abnormal dermatoglyphics
ORPHA:1587	RB1	5925	HP:0000243	Trigonocephaly
ORPHA:1587	RB1	5925	HP:0000518	Cataract
ORPHA:1587	RB1	5925	HP:0000508	Ptosis
ORPHA:1587	RB1	5925	HP:0006101	Finger syndactyly
ORPHA:1587	RB1	5925	HP:0000612	Iris coloboma
ORPHA:1587	RB1	5925	HP:0000431	Wide nasal bridge
ORPHA:1587	RB1	5925	HP:0004322	Short stature
ORPHA:1587	RB1	5925	HP:0000426	Prominent nasal bridge
ORPHA:1587	RB1	5925	HP:0001156	Brachydactyly
ORPHA:1587	RB1	5925	HP:0001252	Muscular hypotonia
ORPHA:1587	RB1	5925	HP:0001511	Intrauterine growth retardation
ORPHA:1587	RB1	5925	HP:0000568	Microphthalmia
ORPHA:1587	RB1	5925	HP:0009919	Retinoblastoma
ORPHA:1587	RB1	5925	HP:0000316	Hypertelorism
ORPHA:1587	RB1	5925	HP:0000369	Low-set ears
ORPHA:99014	PRPS1	5631	HP:0007328	Impaired pain sensation
ORPHA:99014	PRPS1	5631	HP:0003712	Skeletal muscle hypertrophy
ORPHA:99014	PRPS1	5631	HP:0000648	Optic atrophy
ORPHA:99014	PRPS1	5631	HP:0000365	Hearing impairment
ORPHA:99014	PRPS1	5631	HP:0001761	Pes cavus
ORPHA:99014	PRPS1	5631	HP:0040129	Abnormal nerve conduction velocity
ORPHA:99014	PRPS1	5631	HP:0001324	Muscle weakness
ORPHA:99014	PRPS1	5631	HP:0000763	Sensory neuropathy
ORPHA:99014	PRPS1	5631	HP:0001284	Areflexia
ORPHA:199	SMC1A	8243	HP:0002360	Sleep disturbance
ORPHA:199	SMC1A	8243	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	SMC1A	8243	HP:0000076	Vesicoureteral reflux
ORPHA:199	SMC1A	8243	HP:0000508	Ptosis
ORPHA:199	SMC1A	8243	HP:0002167	Neurological speech impairment
ORPHA:199	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	SMC1A	8243	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	SMC1A	8243	HP:0000470	Short neck
ORPHA:199	SMC1A	8243	HP:0001622	Premature birth
ORPHA:199	SMC1A	8243	HP:0010034	Short 1st metacarpal
ORPHA:199	SMC1A	8243	HP:0000343	Long philtrum
ORPHA:199	SMC1A	8243	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	SMC1A	8243	HP:0000248	Brachycephaly
ORPHA:199	SMC1A	8243	HP:0000965	Cutis marmorata
ORPHA:199	SMC1A	8243	HP:0001387	Joint stiffness
ORPHA:199	SMC1A	8243	HP:0004322	Short stature
ORPHA:199	SMC1A	8243	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	SMC1A	8243	HP:0000664	Synophrys
ORPHA:199	SMC1A	8243	HP:0000684	Delayed eruption of teeth
ORPHA:199	SMC1A	8243	HP:0002557	Hypoplastic nipples
ORPHA:199	SMC1A	8243	HP:0000028	Cryptorchidism
ORPHA:199	SMC1A	8243	HP:0001508	Failure to thrive
ORPHA:199	SMC1A	8243	HP:0000407	Sensorineural hearing impairment
ORPHA:199	SMC1A	8243	HP:0000687	Widely spaced teeth
ORPHA:199	SMC1A	8243	HP:0000047	Hypospadias
ORPHA:199	SMC1A	8243	HP:0000405	Conductive hearing impairment
ORPHA:199	SMC1A	8243	HP:0001276	Hypertonia
ORPHA:199	SMC1A	8243	HP:0008872	Feeding difficulties in infancy
ORPHA:199	SMC1A	8243	HP:0002162	Low posterior hairline
ORPHA:199	SMC1A	8243	HP:0000059	Hypoplastic labia majora
ORPHA:199	SMC1A	8243	HP:0000218	High palate
ORPHA:199	SMC1A	8243	HP:0000413	Atresia of the external auditory canal
ORPHA:199	SMC1A	8243	HP:0010300	Abnormally low-pitched voice
ORPHA:199	SMC1A	8243	HP:0002983	Micromelia
ORPHA:199	SMC1A	8243	HP:0001773	Short foot
ORPHA:199	SMC1A	8243	HP:0005280	Depressed nasal bridge
ORPHA:199	SMC1A	8243	HP:0010864	Intellectual disability, severe
ORPHA:199	SMC1A	8243	HP:0000252	Microcephaly
ORPHA:199	SMC1A	8243	HP:0000527	Long eyelashes
ORPHA:199	SMC1A	8243	HP:0008736	Hypoplasia of penis
ORPHA:199	SMC1A	8243	HP:0002553	Highly arched eyebrow
ORPHA:199	SMC1A	8243	HP:0007665	Curly eyelashes
ORPHA:199	SMC1A	8243	HP:0000347	Micrognathia
ORPHA:199	SMC1A	8243	HP:0000739	Anxiety
ORPHA:199	SMC1A	8243	HP:0001511	Intrauterine growth retardation
ORPHA:199	SMC1A	8243	HP:0000545	Myopia
ORPHA:199	SMC1A	8243	HP:0000498	Blepharitis
ORPHA:199	SMC1A	8243	HP:0002230	Generalized hirsutism
ORPHA:199	SMC1A	8243	HP:0002750	Delayed skeletal maturation
ORPHA:199	SMC1A	8243	HP:0002974	Radioulnar synostosis
ORPHA:199	SMC1A	8243	HP:0003042	Elbow dislocation
ORPHA:199	SMC1A	8243	HP:0000463	Anteverted nares
ORPHA:199	SMC1A	8243	HP:0009623	Proximal placement of thumb
ORPHA:199	SMC1A	8243	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	SMC1A	8243	HP:0200055	Small hand
ORPHA:199	SMC1A	8243	HP:0001770	Toe syndactyly
ORPHA:199	SMC1A	8243	HP:0002020	Gastroesophageal reflux
ORPHA:199	SMC1A	8243	HP:0000233	Thin vermilion border
ORPHA:199	SMC1A	8243	HP:0000667	Phthisis bulbi
ORPHA:199	SMC1A	8243	HP:0000294	Low anterior hairline
ORPHA:199	SMC1A	8243	HP:0003196	Short nose
ORPHA:199	SMC1A	8243	HP:0000482	Microcornea
ORPHA:199	SMC1A	8243	HP:0002714	Downturned corners of mouth
ORPHA:199	SMC1A	8243	HP:0008850	Severe postnatal growth retardation
ORPHA:199	SMC1A	8243	HP:0000574	Thick eyebrow
ORPHA:199	SMC3	9126	HP:0002360	Sleep disturbance
ORPHA:199	SMC3	9126	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	SMC3	9126	HP:0000076	Vesicoureteral reflux
ORPHA:199	SMC3	9126	HP:0000508	Ptosis
ORPHA:199	SMC3	9126	HP:0002167	Neurological speech impairment
ORPHA:199	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	SMC3	9126	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	SMC3	9126	HP:0000470	Short neck
ORPHA:199	SMC3	9126	HP:0001622	Premature birth
ORPHA:199	SMC3	9126	HP:0010034	Short 1st metacarpal
ORPHA:199	SMC3	9126	HP:0000343	Long philtrum
ORPHA:199	SMC3	9126	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	SMC3	9126	HP:0000248	Brachycephaly
ORPHA:199	SMC3	9126	HP:0000965	Cutis marmorata
ORPHA:199	SMC3	9126	HP:0001387	Joint stiffness
ORPHA:199	SMC3	9126	HP:0004322	Short stature
ORPHA:199	SMC3	9126	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	SMC3	9126	HP:0000664	Synophrys
ORPHA:199	SMC3	9126	HP:0000684	Delayed eruption of teeth
ORPHA:199	SMC3	9126	HP:0002557	Hypoplastic nipples
ORPHA:199	SMC3	9126	HP:0000028	Cryptorchidism
ORPHA:199	SMC3	9126	HP:0001508	Failure to thrive
ORPHA:199	SMC3	9126	HP:0000407	Sensorineural hearing impairment
ORPHA:199	SMC3	9126	HP:0000687	Widely spaced teeth
ORPHA:199	SMC3	9126	HP:0000047	Hypospadias
ORPHA:199	SMC3	9126	HP:0000405	Conductive hearing impairment
ORPHA:199	SMC3	9126	HP:0001276	Hypertonia
ORPHA:199	SMC3	9126	HP:0008872	Feeding difficulties in infancy
ORPHA:199	SMC3	9126	HP:0002162	Low posterior hairline
ORPHA:199	SMC3	9126	HP:0000059	Hypoplastic labia majora
ORPHA:199	SMC3	9126	HP:0000218	High palate
ORPHA:199	SMC3	9126	HP:0000413	Atresia of the external auditory canal
ORPHA:199	SMC3	9126	HP:0010300	Abnormally low-pitched voice
ORPHA:199	SMC3	9126	HP:0002983	Micromelia
ORPHA:199	SMC3	9126	HP:0001773	Short foot
ORPHA:199	SMC3	9126	HP:0005280	Depressed nasal bridge
ORPHA:199	SMC3	9126	HP:0010864	Intellectual disability, severe
ORPHA:199	SMC3	9126	HP:0000252	Microcephaly
ORPHA:199	SMC3	9126	HP:0000527	Long eyelashes
ORPHA:199	SMC3	9126	HP:0008736	Hypoplasia of penis
ORPHA:199	SMC3	9126	HP:0002553	Highly arched eyebrow
ORPHA:199	SMC3	9126	HP:0007665	Curly eyelashes
ORPHA:199	SMC3	9126	HP:0000347	Micrognathia
ORPHA:199	SMC3	9126	HP:0000739	Anxiety
ORPHA:199	SMC3	9126	HP:0001511	Intrauterine growth retardation
ORPHA:199	SMC3	9126	HP:0000545	Myopia
ORPHA:199	SMC3	9126	HP:0000498	Blepharitis
ORPHA:199	SMC3	9126	HP:0002230	Generalized hirsutism
ORPHA:199	SMC3	9126	HP:0002750	Delayed skeletal maturation
ORPHA:199	SMC3	9126	HP:0002974	Radioulnar synostosis
ORPHA:199	SMC3	9126	HP:0003042	Elbow dislocation
ORPHA:199	SMC3	9126	HP:0000463	Anteverted nares
ORPHA:199	SMC3	9126	HP:0009623	Proximal placement of thumb
ORPHA:199	SMC3	9126	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	SMC3	9126	HP:0200055	Small hand
ORPHA:199	SMC3	9126	HP:0001770	Toe syndactyly
ORPHA:199	SMC3	9126	HP:0002020	Gastroesophageal reflux
ORPHA:199	SMC3	9126	HP:0000233	Thin vermilion border
ORPHA:199	SMC3	9126	HP:0000667	Phthisis bulbi
ORPHA:199	SMC3	9126	HP:0000294	Low anterior hairline
ORPHA:199	SMC3	9126	HP:0003196	Short nose
ORPHA:199	SMC3	9126	HP:0000482	Microcornea
ORPHA:199	SMC3	9126	HP:0002714	Downturned corners of mouth
ORPHA:199	SMC3	9126	HP:0008850	Severe postnatal growth retardation
ORPHA:199	SMC3	9126	HP:0000574	Thick eyebrow
ORPHA:199	KMT2A	4297	HP:0002360	Sleep disturbance
ORPHA:199	KMT2A	4297	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	KMT2A	4297	HP:0000076	Vesicoureteral reflux
ORPHA:199	KMT2A	4297	HP:0000508	Ptosis
ORPHA:199	KMT2A	4297	HP:0002167	Neurological speech impairment
ORPHA:199	KMT2A	4297	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	KMT2A	4297	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	KMT2A	4297	HP:0000470	Short neck
ORPHA:199	KMT2A	4297	HP:0001622	Premature birth
ORPHA:199	KMT2A	4297	HP:0010034	Short 1st metacarpal
ORPHA:199	KMT2A	4297	HP:0000343	Long philtrum
ORPHA:199	KMT2A	4297	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	KMT2A	4297	HP:0000248	Brachycephaly
ORPHA:199	KMT2A	4297	HP:0000965	Cutis marmorata
ORPHA:199	KMT2A	4297	HP:0001387	Joint stiffness
ORPHA:199	KMT2A	4297	HP:0004322	Short stature
ORPHA:199	KMT2A	4297	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	KMT2A	4297	HP:0000664	Synophrys
ORPHA:199	KMT2A	4297	HP:0000684	Delayed eruption of teeth
ORPHA:199	KMT2A	4297	HP:0002557	Hypoplastic nipples
ORPHA:199	KMT2A	4297	HP:0000028	Cryptorchidism
ORPHA:199	KMT2A	4297	HP:0001508	Failure to thrive
ORPHA:199	KMT2A	4297	HP:0000407	Sensorineural hearing impairment
ORPHA:199	KMT2A	4297	HP:0000687	Widely spaced teeth
ORPHA:199	KMT2A	4297	HP:0000047	Hypospadias
ORPHA:199	KMT2A	4297	HP:0000405	Conductive hearing impairment
ORPHA:199	KMT2A	4297	HP:0001276	Hypertonia
ORPHA:199	KMT2A	4297	HP:0008872	Feeding difficulties in infancy
ORPHA:199	KMT2A	4297	HP:0002162	Low posterior hairline
ORPHA:199	KMT2A	4297	HP:0000059	Hypoplastic labia majora
ORPHA:199	KMT2A	4297	HP:0000218	High palate
ORPHA:199	KMT2A	4297	HP:0000413	Atresia of the external auditory canal
ORPHA:199	KMT2A	4297	HP:0010300	Abnormally low-pitched voice
ORPHA:199	KMT2A	4297	HP:0002983	Micromelia
ORPHA:199	KMT2A	4297	HP:0001773	Short foot
ORPHA:199	KMT2A	4297	HP:0005280	Depressed nasal bridge
ORPHA:199	KMT2A	4297	HP:0010864	Intellectual disability, severe
ORPHA:199	KMT2A	4297	HP:0000252	Microcephaly
ORPHA:199	KMT2A	4297	HP:0000527	Long eyelashes
ORPHA:199	KMT2A	4297	HP:0008736	Hypoplasia of penis
ORPHA:199	KMT2A	4297	HP:0002553	Highly arched eyebrow
ORPHA:199	KMT2A	4297	HP:0007665	Curly eyelashes
ORPHA:199	KMT2A	4297	HP:0000347	Micrognathia
ORPHA:199	KMT2A	4297	HP:0000739	Anxiety
ORPHA:199	KMT2A	4297	HP:0001511	Intrauterine growth retardation
ORPHA:199	KMT2A	4297	HP:0000545	Myopia
ORPHA:199	KMT2A	4297	HP:0000498	Blepharitis
ORPHA:199	KMT2A	4297	HP:0002230	Generalized hirsutism
ORPHA:199	KMT2A	4297	HP:0002750	Delayed skeletal maturation
ORPHA:199	KMT2A	4297	HP:0002974	Radioulnar synostosis
ORPHA:199	KMT2A	4297	HP:0003042	Elbow dislocation
ORPHA:199	KMT2A	4297	HP:0000463	Anteverted nares
ORPHA:199	KMT2A	4297	HP:0009623	Proximal placement of thumb
ORPHA:199	KMT2A	4297	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	KMT2A	4297	HP:0200055	Small hand
ORPHA:199	KMT2A	4297	HP:0001770	Toe syndactyly
ORPHA:199	KMT2A	4297	HP:0002020	Gastroesophageal reflux
ORPHA:199	KMT2A	4297	HP:0000233	Thin vermilion border
ORPHA:199	KMT2A	4297	HP:0000667	Phthisis bulbi
ORPHA:199	KMT2A	4297	HP:0000294	Low anterior hairline
ORPHA:199	KMT2A	4297	HP:0003196	Short nose
ORPHA:199	KMT2A	4297	HP:0000482	Microcornea
ORPHA:199	KMT2A	4297	HP:0002714	Downturned corners of mouth
ORPHA:199	KMT2A	4297	HP:0008850	Severe postnatal growth retardation
ORPHA:199	KMT2A	4297	HP:0000574	Thick eyebrow
ORPHA:199	SETD5	55209	HP:0002360	Sleep disturbance
ORPHA:199	SETD5	55209	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	SETD5	55209	HP:0000076	Vesicoureteral reflux
ORPHA:199	SETD5	55209	HP:0000508	Ptosis
ORPHA:199	SETD5	55209	HP:0002167	Neurological speech impairment
ORPHA:199	SETD5	55209	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	SETD5	55209	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	SETD5	55209	HP:0000470	Short neck
ORPHA:199	SETD5	55209	HP:0001622	Premature birth
ORPHA:199	SETD5	55209	HP:0010034	Short 1st metacarpal
ORPHA:199	SETD5	55209	HP:0000343	Long philtrum
ORPHA:199	SETD5	55209	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	SETD5	55209	HP:0000248	Brachycephaly
ORPHA:199	SETD5	55209	HP:0000965	Cutis marmorata
ORPHA:199	SETD5	55209	HP:0001387	Joint stiffness
ORPHA:199	SETD5	55209	HP:0004322	Short stature
ORPHA:199	SETD5	55209	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	SETD5	55209	HP:0000664	Synophrys
ORPHA:199	SETD5	55209	HP:0000684	Delayed eruption of teeth
ORPHA:199	SETD5	55209	HP:0002557	Hypoplastic nipples
ORPHA:199	SETD5	55209	HP:0000028	Cryptorchidism
ORPHA:199	SETD5	55209	HP:0001508	Failure to thrive
ORPHA:199	SETD5	55209	HP:0000407	Sensorineural hearing impairment
ORPHA:199	SETD5	55209	HP:0000687	Widely spaced teeth
ORPHA:199	SETD5	55209	HP:0000047	Hypospadias
ORPHA:199	SETD5	55209	HP:0000405	Conductive hearing impairment
ORPHA:199	SETD5	55209	HP:0001276	Hypertonia
ORPHA:199	SETD5	55209	HP:0008872	Feeding difficulties in infancy
ORPHA:199	SETD5	55209	HP:0002162	Low posterior hairline
ORPHA:199	SETD5	55209	HP:0000059	Hypoplastic labia majora
ORPHA:199	SETD5	55209	HP:0000218	High palate
ORPHA:199	SETD5	55209	HP:0000413	Atresia of the external auditory canal
ORPHA:199	SETD5	55209	HP:0010300	Abnormally low-pitched voice
ORPHA:199	SETD5	55209	HP:0002983	Micromelia
ORPHA:199	SETD5	55209	HP:0001773	Short foot
ORPHA:199	SETD5	55209	HP:0005280	Depressed nasal bridge
ORPHA:199	SETD5	55209	HP:0010864	Intellectual disability, severe
ORPHA:199	SETD5	55209	HP:0000252	Microcephaly
ORPHA:199	SETD5	55209	HP:0000527	Long eyelashes
ORPHA:199	SETD5	55209	HP:0008736	Hypoplasia of penis
ORPHA:199	SETD5	55209	HP:0002553	Highly arched eyebrow
ORPHA:199	SETD5	55209	HP:0007665	Curly eyelashes
ORPHA:199	SETD5	55209	HP:0000347	Micrognathia
ORPHA:199	SETD5	55209	HP:0000739	Anxiety
ORPHA:199	SETD5	55209	HP:0001511	Intrauterine growth retardation
ORPHA:199	SETD5	55209	HP:0000545	Myopia
ORPHA:199	SETD5	55209	HP:0000498	Blepharitis
ORPHA:199	SETD5	55209	HP:0002230	Generalized hirsutism
ORPHA:199	SETD5	55209	HP:0002750	Delayed skeletal maturation
ORPHA:199	SETD5	55209	HP:0002974	Radioulnar synostosis
ORPHA:199	SETD5	55209	HP:0003042	Elbow dislocation
ORPHA:199	SETD5	55209	HP:0000463	Anteverted nares
ORPHA:199	SETD5	55209	HP:0009623	Proximal placement of thumb
ORPHA:199	SETD5	55209	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	SETD5	55209	HP:0200055	Small hand
ORPHA:199	SETD5	55209	HP:0001770	Toe syndactyly
ORPHA:199	SETD5	55209	HP:0002020	Gastroesophageal reflux
ORPHA:199	SETD5	55209	HP:0000233	Thin vermilion border
ORPHA:199	SETD5	55209	HP:0000667	Phthisis bulbi
ORPHA:199	SETD5	55209	HP:0000294	Low anterior hairline
ORPHA:199	SETD5	55209	HP:0003196	Short nose
ORPHA:199	SETD5	55209	HP:0000482	Microcornea
ORPHA:199	SETD5	55209	HP:0002714	Downturned corners of mouth
ORPHA:199	SETD5	55209	HP:0008850	Severe postnatal growth retardation
ORPHA:199	SETD5	55209	HP:0000574	Thick eyebrow
ORPHA:199	NIPBL	25836	HP:0002360	Sleep disturbance
ORPHA:199	NIPBL	25836	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	NIPBL	25836	HP:0000076	Vesicoureteral reflux
ORPHA:199	NIPBL	25836	HP:0000508	Ptosis
ORPHA:199	NIPBL	25836	HP:0002167	Neurological speech impairment
ORPHA:199	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	NIPBL	25836	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	NIPBL	25836	HP:0000470	Short neck
ORPHA:199	NIPBL	25836	HP:0001622	Premature birth
ORPHA:199	NIPBL	25836	HP:0010034	Short 1st metacarpal
ORPHA:199	NIPBL	25836	HP:0000343	Long philtrum
ORPHA:199	NIPBL	25836	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	NIPBL	25836	HP:0000248	Brachycephaly
ORPHA:199	NIPBL	25836	HP:0000965	Cutis marmorata
ORPHA:199	NIPBL	25836	HP:0001387	Joint stiffness
ORPHA:199	NIPBL	25836	HP:0004322	Short stature
ORPHA:199	NIPBL	25836	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	NIPBL	25836	HP:0000664	Synophrys
ORPHA:199	NIPBL	25836	HP:0000684	Delayed eruption of teeth
ORPHA:199	NIPBL	25836	HP:0002557	Hypoplastic nipples
ORPHA:199	NIPBL	25836	HP:0000028	Cryptorchidism
ORPHA:199	NIPBL	25836	HP:0001508	Failure to thrive
ORPHA:199	NIPBL	25836	HP:0000407	Sensorineural hearing impairment
ORPHA:199	NIPBL	25836	HP:0000687	Widely spaced teeth
ORPHA:199	NIPBL	25836	HP:0000047	Hypospadias
ORPHA:199	NIPBL	25836	HP:0000405	Conductive hearing impairment
ORPHA:199	NIPBL	25836	HP:0001276	Hypertonia
ORPHA:199	NIPBL	25836	HP:0008872	Feeding difficulties in infancy
ORPHA:199	NIPBL	25836	HP:0002162	Low posterior hairline
ORPHA:199	NIPBL	25836	HP:0000059	Hypoplastic labia majora
ORPHA:199	NIPBL	25836	HP:0000218	High palate
ORPHA:199	NIPBL	25836	HP:0000413	Atresia of the external auditory canal
ORPHA:199	NIPBL	25836	HP:0010300	Abnormally low-pitched voice
ORPHA:199	NIPBL	25836	HP:0002983	Micromelia
ORPHA:199	NIPBL	25836	HP:0001773	Short foot
ORPHA:199	NIPBL	25836	HP:0005280	Depressed nasal bridge
ORPHA:199	NIPBL	25836	HP:0010864	Intellectual disability, severe
ORPHA:199	NIPBL	25836	HP:0000252	Microcephaly
ORPHA:199	NIPBL	25836	HP:0000527	Long eyelashes
ORPHA:199	NIPBL	25836	HP:0008736	Hypoplasia of penis
ORPHA:199	NIPBL	25836	HP:0002553	Highly arched eyebrow
ORPHA:199	NIPBL	25836	HP:0007665	Curly eyelashes
ORPHA:199	NIPBL	25836	HP:0000347	Micrognathia
ORPHA:199	NIPBL	25836	HP:0000739	Anxiety
ORPHA:199	NIPBL	25836	HP:0001511	Intrauterine growth retardation
ORPHA:199	NIPBL	25836	HP:0000545	Myopia
ORPHA:199	NIPBL	25836	HP:0000498	Blepharitis
ORPHA:199	NIPBL	25836	HP:0002230	Generalized hirsutism
ORPHA:199	NIPBL	25836	HP:0002750	Delayed skeletal maturation
ORPHA:199	NIPBL	25836	HP:0002974	Radioulnar synostosis
ORPHA:199	NIPBL	25836	HP:0003042	Elbow dislocation
ORPHA:199	NIPBL	25836	HP:0000463	Anteverted nares
ORPHA:199	NIPBL	25836	HP:0009623	Proximal placement of thumb
ORPHA:199	NIPBL	25836	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	NIPBL	25836	HP:0200055	Small hand
ORPHA:199	NIPBL	25836	HP:0001770	Toe syndactyly
ORPHA:199	NIPBL	25836	HP:0002020	Gastroesophageal reflux
ORPHA:199	NIPBL	25836	HP:0000233	Thin vermilion border
ORPHA:199	NIPBL	25836	HP:0000667	Phthisis bulbi
ORPHA:199	NIPBL	25836	HP:0000294	Low anterior hairline
ORPHA:199	NIPBL	25836	HP:0003196	Short nose
ORPHA:199	NIPBL	25836	HP:0000482	Microcornea
ORPHA:199	NIPBL	25836	HP:0002714	Downturned corners of mouth
ORPHA:199	NIPBL	25836	HP:0008850	Severe postnatal growth retardation
ORPHA:199	NIPBL	25836	HP:0000574	Thick eyebrow
ORPHA:199	HDAC8	55869	HP:0002360	Sleep disturbance
ORPHA:199	HDAC8	55869	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	HDAC8	55869	HP:0000076	Vesicoureteral reflux
ORPHA:199	HDAC8	55869	HP:0000508	Ptosis
ORPHA:199	HDAC8	55869	HP:0002167	Neurological speech impairment
ORPHA:199	HDAC8	55869	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	HDAC8	55869	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	HDAC8	55869	HP:0000470	Short neck
ORPHA:199	HDAC8	55869	HP:0001622	Premature birth
ORPHA:199	HDAC8	55869	HP:0010034	Short 1st metacarpal
ORPHA:199	HDAC8	55869	HP:0000343	Long philtrum
ORPHA:199	HDAC8	55869	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	HDAC8	55869	HP:0000248	Brachycephaly
ORPHA:199	HDAC8	55869	HP:0000965	Cutis marmorata
ORPHA:199	HDAC8	55869	HP:0001387	Joint stiffness
ORPHA:199	HDAC8	55869	HP:0004322	Short stature
ORPHA:199	HDAC8	55869	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	HDAC8	55869	HP:0000664	Synophrys
ORPHA:199	HDAC8	55869	HP:0000684	Delayed eruption of teeth
ORPHA:199	HDAC8	55869	HP:0002557	Hypoplastic nipples
ORPHA:199	HDAC8	55869	HP:0000028	Cryptorchidism
ORPHA:199	HDAC8	55869	HP:0001508	Failure to thrive
ORPHA:199	HDAC8	55869	HP:0000407	Sensorineural hearing impairment
ORPHA:199	HDAC8	55869	HP:0000687	Widely spaced teeth
ORPHA:199	HDAC8	55869	HP:0000047	Hypospadias
ORPHA:199	HDAC8	55869	HP:0000405	Conductive hearing impairment
ORPHA:199	HDAC8	55869	HP:0001276	Hypertonia
ORPHA:199	HDAC8	55869	HP:0008872	Feeding difficulties in infancy
ORPHA:199	HDAC8	55869	HP:0002162	Low posterior hairline
ORPHA:199	HDAC8	55869	HP:0000059	Hypoplastic labia majora
ORPHA:199	HDAC8	55869	HP:0000218	High palate
ORPHA:199	HDAC8	55869	HP:0000413	Atresia of the external auditory canal
ORPHA:199	HDAC8	55869	HP:0010300	Abnormally low-pitched voice
ORPHA:199	HDAC8	55869	HP:0002983	Micromelia
ORPHA:199	HDAC8	55869	HP:0001773	Short foot
ORPHA:199	HDAC8	55869	HP:0005280	Depressed nasal bridge
ORPHA:199	HDAC8	55869	HP:0010864	Intellectual disability, severe
ORPHA:199	HDAC8	55869	HP:0000252	Microcephaly
ORPHA:199	HDAC8	55869	HP:0000527	Long eyelashes
ORPHA:199	HDAC8	55869	HP:0008736	Hypoplasia of penis
ORPHA:199	HDAC8	55869	HP:0002553	Highly arched eyebrow
ORPHA:199	HDAC8	55869	HP:0007665	Curly eyelashes
ORPHA:199	HDAC8	55869	HP:0000347	Micrognathia
ORPHA:199	HDAC8	55869	HP:0000739	Anxiety
ORPHA:199	HDAC8	55869	HP:0001511	Intrauterine growth retardation
ORPHA:199	HDAC8	55869	HP:0000545	Myopia
ORPHA:199	HDAC8	55869	HP:0000498	Blepharitis
ORPHA:199	HDAC8	55869	HP:0002230	Generalized hirsutism
ORPHA:199	HDAC8	55869	HP:0002750	Delayed skeletal maturation
ORPHA:199	HDAC8	55869	HP:0002974	Radioulnar synostosis
ORPHA:199	HDAC8	55869	HP:0003042	Elbow dislocation
ORPHA:199	HDAC8	55869	HP:0000463	Anteverted nares
ORPHA:199	HDAC8	55869	HP:0009623	Proximal placement of thumb
ORPHA:199	HDAC8	55869	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	HDAC8	55869	HP:0200055	Small hand
ORPHA:199	HDAC8	55869	HP:0001770	Toe syndactyly
ORPHA:199	HDAC8	55869	HP:0002020	Gastroesophageal reflux
ORPHA:199	HDAC8	55869	HP:0000233	Thin vermilion border
ORPHA:199	HDAC8	55869	HP:0000667	Phthisis bulbi
ORPHA:199	HDAC8	55869	HP:0000294	Low anterior hairline
ORPHA:199	HDAC8	55869	HP:0003196	Short nose
ORPHA:199	HDAC8	55869	HP:0000482	Microcornea
ORPHA:199	HDAC8	55869	HP:0002714	Downturned corners of mouth
ORPHA:199	HDAC8	55869	HP:0008850	Severe postnatal growth retardation
ORPHA:199	HDAC8	55869	HP:0000574	Thick eyebrow
ORPHA:199	RAD21	5885	HP:0002360	Sleep disturbance
ORPHA:199	RAD21	5885	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:199	RAD21	5885	HP:0000076	Vesicoureteral reflux
ORPHA:199	RAD21	5885	HP:0000508	Ptosis
ORPHA:199	RAD21	5885	HP:0002167	Neurological speech impairment
ORPHA:199	RAD21	5885	HP:0004209	Clinodactyly of the 5th finger
ORPHA:199	RAD21	5885	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:199	RAD21	5885	HP:0000470	Short neck
ORPHA:199	RAD21	5885	HP:0001622	Premature birth
ORPHA:199	RAD21	5885	HP:0010034	Short 1st metacarpal
ORPHA:199	RAD21	5885	HP:0000343	Long philtrum
ORPHA:199	RAD21	5885	HP:0007598	Bilateral single transverse palmar creases
ORPHA:199	RAD21	5885	HP:0000248	Brachycephaly
ORPHA:199	RAD21	5885	HP:0000965	Cutis marmorata
ORPHA:199	RAD21	5885	HP:0001387	Joint stiffness
ORPHA:199	RAD21	5885	HP:0004322	Short stature
ORPHA:199	RAD21	5885	HP:0000722	Obsessive-compulsive behavior
ORPHA:199	RAD21	5885	HP:0000664	Synophrys
ORPHA:199	RAD21	5885	HP:0000684	Delayed eruption of teeth
ORPHA:199	RAD21	5885	HP:0002557	Hypoplastic nipples
ORPHA:199	RAD21	5885	HP:0000028	Cryptorchidism
ORPHA:199	RAD21	5885	HP:0001508	Failure to thrive
ORPHA:199	RAD21	5885	HP:0000407	Sensorineural hearing impairment
ORPHA:199	RAD21	5885	HP:0000687	Widely spaced teeth
ORPHA:199	RAD21	5885	HP:0000047	Hypospadias
ORPHA:199	RAD21	5885	HP:0000405	Conductive hearing impairment
ORPHA:199	RAD21	5885	HP:0001276	Hypertonia
ORPHA:199	RAD21	5885	HP:0008872	Feeding difficulties in infancy
ORPHA:199	RAD21	5885	HP:0002162	Low posterior hairline
ORPHA:199	RAD21	5885	HP:0000059	Hypoplastic labia majora
ORPHA:199	RAD21	5885	HP:0000218	High palate
ORPHA:199	RAD21	5885	HP:0000413	Atresia of the external auditory canal
ORPHA:199	RAD21	5885	HP:0010300	Abnormally low-pitched voice
ORPHA:199	RAD21	5885	HP:0002983	Micromelia
ORPHA:199	RAD21	5885	HP:0001773	Short foot
ORPHA:199	RAD21	5885	HP:0005280	Depressed nasal bridge
ORPHA:199	RAD21	5885	HP:0010864	Intellectual disability, severe
ORPHA:199	RAD21	5885	HP:0000252	Microcephaly
ORPHA:199	RAD21	5885	HP:0000527	Long eyelashes
ORPHA:199	RAD21	5885	HP:0008736	Hypoplasia of penis
ORPHA:199	RAD21	5885	HP:0002553	Highly arched eyebrow
ORPHA:199	RAD21	5885	HP:0007665	Curly eyelashes
ORPHA:199	RAD21	5885	HP:0000347	Micrognathia
ORPHA:199	RAD21	5885	HP:0000739	Anxiety
ORPHA:199	RAD21	5885	HP:0001511	Intrauterine growth retardation
ORPHA:199	RAD21	5885	HP:0000545	Myopia
ORPHA:199	RAD21	5885	HP:0000498	Blepharitis
ORPHA:199	RAD21	5885	HP:0002230	Generalized hirsutism
ORPHA:199	RAD21	5885	HP:0002750	Delayed skeletal maturation
ORPHA:199	RAD21	5885	HP:0002974	Radioulnar synostosis
ORPHA:199	RAD21	5885	HP:0003042	Elbow dislocation
ORPHA:199	RAD21	5885	HP:0000463	Anteverted nares
ORPHA:199	RAD21	5885	HP:0009623	Proximal placement of thumb
ORPHA:199	RAD21	5885	HP:0000003	Multicystic kidney dysplasia
ORPHA:199	RAD21	5885	HP:0200055	Small hand
ORPHA:199	RAD21	5885	HP:0001770	Toe syndactyly
ORPHA:199	RAD21	5885	HP:0002020	Gastroesophageal reflux
ORPHA:199	RAD21	5885	HP:0000233	Thin vermilion border
ORPHA:199	RAD21	5885	HP:0000667	Phthisis bulbi
ORPHA:199	RAD21	5885	HP:0000294	Low anterior hairline
ORPHA:199	RAD21	5885	HP:0003196	Short nose
ORPHA:199	RAD21	5885	HP:0000482	Microcornea
ORPHA:199	RAD21	5885	HP:0002714	Downturned corners of mouth
ORPHA:199	RAD21	5885	HP:0008850	Severe postnatal growth retardation
ORPHA:199	RAD21	5885	HP:0000574	Thick eyebrow
OMIM:604403	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:604403	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:604403	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:604403	SCN1A	6323	HP:0002121	Absence seizures
OMIM:604403	SCN1A	6323	HP:0003828	Variable expressivity
OMIM:604403	SCN1A	6323	HP:0006813	Hemiclonic seizures
OMIM:604403	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:604403	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	SCN1A	6323	HP:0010818	Generalized tonic seizures
OMIM:604403	SCN1A	6323	HP:0011463	Childhood onset
OMIM:608681	MESP2	145873	HP:0003521	Disproportionate short-trunk short stature
OMIM:608681	MESP2	145873	HP:0000470	Short neck
OMIM:608681	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:608681	MESP2	145873	HP:0002205	Recurrent respiratory infections
OMIM:608681	MESP2	145873	HP:0003422	Vertebral segmentation defect
OMIM:608681	MESP2	145873	HP:0000902	Rib fusion
ORPHA:2770	TREM2	54209	HP:0002652	Skeletal dysplasia
ORPHA:2770	TREM2	54209	HP:0002653	Bone pain
ORPHA:2770	TREM2	54209	HP:0001250	Seizures
ORPHA:2770	TREM2	54209	HP:0002354	Memory impairment
ORPHA:2770	TREM2	54209	HP:0002829	Arthralgia
ORPHA:2770	TREM2	54209	HP:0010524	Agnosia
ORPHA:2770	TREM2	54209	HP:0000657	Oculomotor apraxia
ORPHA:2770	TREM2	54209	HP:0001376	Limitation of joint mobility
ORPHA:2770	TREM2	54209	HP:0002514	Cerebral calcification
ORPHA:2770	TREM2	54209	HP:0001257	Spasticity
ORPHA:2770	TREM2	54209	HP:0002119	Ventriculomegaly
ORPHA:2770	TREM2	54209	HP:0009124	Abnormality of adipose tissue
ORPHA:2770	TREM2	54209	HP:0002120	Cerebral cortical atrophy
ORPHA:2770	TREM2	54209	HP:0000751	Personality changes
ORPHA:2770	TREM2	54209	HP:0002167	Neurological speech impairment
ORPHA:2770	TREM2	54209	HP:0002376	Developmental regression
ORPHA:2770	TREM2	54209	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2770	TREM2	54209	HP:0000737	Irritability
ORPHA:2770	TREM2	54209	HP:0002072	Chorea
ORPHA:2770	TREM2	54209	HP:0012062	Bone cyst
ORPHA:2770	TREM2	54209	HP:0000734	Disinhibition
ORPHA:2770	TREM2	54209	HP:0004349	Reduced bone mineral density
ORPHA:2770	TREM2	54209	HP:0000727	Frontal lobe dementia
ORPHA:2770	TYROBP	7305	HP:0002652	Skeletal dysplasia
ORPHA:2770	TYROBP	7305	HP:0002653	Bone pain
ORPHA:2770	TYROBP	7305	HP:0001250	Seizures
ORPHA:2770	TYROBP	7305	HP:0002354	Memory impairment
ORPHA:2770	TYROBP	7305	HP:0002829	Arthralgia
ORPHA:2770	TYROBP	7305	HP:0010524	Agnosia
ORPHA:2770	TYROBP	7305	HP:0000657	Oculomotor apraxia
ORPHA:2770	TYROBP	7305	HP:0001376	Limitation of joint mobility
ORPHA:2770	TYROBP	7305	HP:0002514	Cerebral calcification
ORPHA:2770	TYROBP	7305	HP:0001257	Spasticity
ORPHA:2770	TYROBP	7305	HP:0002119	Ventriculomegaly
ORPHA:2770	TYROBP	7305	HP:0009124	Abnormality of adipose tissue
ORPHA:2770	TYROBP	7305	HP:0002120	Cerebral cortical atrophy
ORPHA:2770	TYROBP	7305	HP:0000751	Personality changes
ORPHA:2770	TYROBP	7305	HP:0002167	Neurological speech impairment
ORPHA:2770	TYROBP	7305	HP:0002376	Developmental regression
ORPHA:2770	TYROBP	7305	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2770	TYROBP	7305	HP:0000737	Irritability
ORPHA:2770	TYROBP	7305	HP:0002072	Chorea
ORPHA:2770	TYROBP	7305	HP:0012062	Bone cyst
ORPHA:2770	TYROBP	7305	HP:0000734	Disinhibition
ORPHA:2770	TYROBP	7305	HP:0004349	Reduced bone mineral density
ORPHA:2770	TYROBP	7305	HP:0000727	Frontal lobe dementia
ORPHA:859	TCN2	6948	HP:0001919	Acute kidney injury
ORPHA:859	TCN2	6948	HP:0004315	IgG deficiency
ORPHA:859	TCN2	6948	HP:0001873	Thrombocytopenia
ORPHA:859	TCN2	6948	HP:0001876	Pancytopenia
ORPHA:859	TCN2	6948	HP:0003220	Abnormality of chromosome stability
ORPHA:859	TCN2	6948	HP:0001888	Lymphopenia
ORPHA:859	TCN2	6948	HP:0002850	IgM deficiency
ORPHA:859	TCN2	6948	HP:0002720	IgA deficiency
ORPHA:859	TCN2	6948	HP:0012120	Methylmalonic aciduria
ORPHA:859	TCN2	6948	HP:0001980	Megaloblastic bone marrow
ORPHA:859	TCN2	6948	HP:0001875	Neutropenia
OMIM:311900	RBM10	8241	HP:0000395	Prominent antihelix
OMIM:311900	RBM10	8241	HP:0001508	Failure to thrive
OMIM:311900	RBM10	8241	HP:0012745	Short palpebral fissure
OMIM:311900	RBM10	8241	HP:0009891	Underdeveloped supraorbital ridges
OMIM:311900	RBM10	8241	HP:0000218	High palate
OMIM:311900	RBM10	8241	HP:0000431	Wide nasal bridge
OMIM:311900	RBM10	8241	HP:0001321	Cerebellar hypoplasia
OMIM:311900	RBM10	8241	HP:0000085	Horseshoe kidney
OMIM:311900	RBM10	8241	HP:0001417	X-linked inheritance
OMIM:311900	RBM10	8241	HP:0000358	Posteriorly rotated ears
OMIM:311900	RBM10	8241	HP:0008551	Microtia
OMIM:311900	RBM10	8241	HP:0000175	Cleft palate
OMIM:311900	RBM10	8241	HP:0012725	Cutaneous syndactyly
OMIM:311900	RBM10	8241	HP:0001511	Intrauterine growth retardation
OMIM:311900	RBM10	8241	HP:0006191	Deep palmar crease
OMIM:311900	RBM10	8241	HP:0001320	Cerebellar vermis hypoplasia
OMIM:311900	RBM10	8241	HP:0030084	Clinodactyly
OMIM:311900	RBM10	8241	HP:0000463	Anteverted nares
OMIM:311900	RBM10	8241	HP:0001273	Abnormality of the corpus callosum
OMIM:311900	RBM10	8241	HP:0000369	Low-set ears
OMIM:311900	RBM10	8241	HP:0001290	Generalized hypotonia
OMIM:311900	RBM10	8241	HP:0001762	Talipes equinovarus
OMIM:311900	RBM10	8241	HP:0000239	Large fontanelles
OMIM:311900	RBM10	8241	HP:0001263	Global developmental delay
OMIM:311900	RBM10	8241	HP:0002984	Hypoplasia of the radius
OMIM:311900	RBM10	8241	HP:0000347	Micrognathia
OMIM:311900	RBM10	8241	HP:0000954	Single transverse palmar crease
OMIM:311900	RBM10	8241	HP:0001419	X-linked recessive inheritance
OMIM:311900	RBM10	8241	HP:0000162	Glossoptosis
OMIM:311900	RBM10	8241	HP:0000126	Hydronephrosis
OMIM:615325	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:615325	DES	1674	HP:0002987	Elbow flexion contracture
OMIM:615325	DES	1674	HP:0003560	Muscular dystrophy
OMIM:615325	DES	1674	HP:0010628	Facial palsy
OMIM:615325	DES	1674	HP:0003691	Scapular winging
OMIM:615325	DES	1674	HP:0003676	Progressive
ORPHA:900	CTLA4	1493	HP:0000988	Skin rash
ORPHA:900	CTLA4	1493	HP:0012378	Fatigue
ORPHA:900	CTLA4	1493	HP:0000163	Abnormality of the oral cavity
ORPHA:900	CTLA4	1493	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:900	CTLA4	1493	HP:0200034	Papule
ORPHA:900	CTLA4	1493	HP:0001945	Fever
ORPHA:900	CTLA4	1493	HP:0002206	Pulmonary fibrosis
ORPHA:900	CTLA4	1493	HP:0006535	Recurrent intrapulmonary hemorrhage
ORPHA:900	CTLA4	1493	HP:0000246	Sinusitis
ORPHA:900	CTLA4	1493	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:900	CTLA4	1493	HP:0002027	Abdominal pain
ORPHA:900	CTLA4	1493	HP:0100820	Glomerulopathy
ORPHA:900	CTLA4	1493	HP:0002633	Vasculitis
ORPHA:900	CTLA4	1493	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:900	CTLA4	1493	HP:0002113	Pulmonary infiltrates
ORPHA:900	CTLA4	1493	HP:0002637	Cerebral ischemia
ORPHA:900	CTLA4	1493	HP:0002829	Arthralgia
ORPHA:900	CTLA4	1493	HP:0012735	Cough
ORPHA:900	CTLA4	1493	HP:0100539	Periorbital edema
ORPHA:900	CTLA4	1493	HP:0002960	Autoimmunity
ORPHA:900	CTLA4	1493	HP:0002205	Recurrent respiratory infections
ORPHA:900	CTLA4	1493	HP:0100533	Inflammatory abnormality of the eye
ORPHA:900	CTLA4	1493	HP:0002105	Hemoptysis
ORPHA:900	CTLA4	1493	HP:0011227	Elevated C-reactive protein level
ORPHA:900	CTLA4	1493	HP:0001824	Weight loss
ORPHA:900	CTLA4	1493	HP:0000421	Epistaxis
ORPHA:900	CTLA4	1493	HP:0000790	Hematuria
ORPHA:900	CTLA4	1493	HP:0002093	Respiratory insufficiency
ORPHA:900	CTLA4	1493	HP:0100749	Chest pain
ORPHA:900	CTLA4	1493	HP:0000093	Proteinuria
ORPHA:900	CTLA4	1493	HP:0002017	Nausea and vomiting
ORPHA:900	CTLA4	1493	HP:0002955	Granulomatosis
ORPHA:900	PRTN3	5657	HP:0000988	Skin rash
ORPHA:900	PRTN3	5657	HP:0012378	Fatigue
ORPHA:900	PRTN3	5657	HP:0000163	Abnormality of the oral cavity
ORPHA:900	PRTN3	5657	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:900	PRTN3	5657	HP:0200034	Papule
ORPHA:900	PRTN3	5657	HP:0001945	Fever
ORPHA:900	PRTN3	5657	HP:0002206	Pulmonary fibrosis
ORPHA:900	PRTN3	5657	HP:0006535	Recurrent intrapulmonary hemorrhage
ORPHA:900	PRTN3	5657	HP:0000246	Sinusitis
ORPHA:900	PRTN3	5657	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:900	PRTN3	5657	HP:0002027	Abdominal pain
ORPHA:900	PRTN3	5657	HP:0100820	Glomerulopathy
ORPHA:900	PRTN3	5657	HP:0002633	Vasculitis
ORPHA:900	PRTN3	5657	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:900	PRTN3	5657	HP:0002113	Pulmonary infiltrates
ORPHA:900	PRTN3	5657	HP:0002637	Cerebral ischemia
ORPHA:900	PRTN3	5657	HP:0002829	Arthralgia
ORPHA:900	PRTN3	5657	HP:0012735	Cough
ORPHA:900	PRTN3	5657	HP:0100539	Periorbital edema
ORPHA:900	PRTN3	5657	HP:0002960	Autoimmunity
ORPHA:900	PRTN3	5657	HP:0002205	Recurrent respiratory infections
ORPHA:900	PRTN3	5657	HP:0100533	Inflammatory abnormality of the eye
ORPHA:900	PRTN3	5657	HP:0002105	Hemoptysis
ORPHA:900	PRTN3	5657	HP:0011227	Elevated C-reactive protein level
ORPHA:900	PRTN3	5657	HP:0001824	Weight loss
ORPHA:900	PRTN3	5657	HP:0000421	Epistaxis
ORPHA:900	PRTN3	5657	HP:0000790	Hematuria
ORPHA:900	PRTN3	5657	HP:0002093	Respiratory insufficiency
ORPHA:900	PRTN3	5657	HP:0100749	Chest pain
ORPHA:900	PRTN3	5657	HP:0000093	Proteinuria
ORPHA:900	PRTN3	5657	HP:0002017	Nausea and vomiting
ORPHA:900	PRTN3	5657	HP:0002955	Granulomatosis
ORPHA:900	HLA-DPB1	3115	HP:0000988	Skin rash
ORPHA:900	HLA-DPB1	3115	HP:0012378	Fatigue
ORPHA:900	HLA-DPB1	3115	HP:0000163	Abnormality of the oral cavity
ORPHA:900	HLA-DPB1	3115	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:900	HLA-DPB1	3115	HP:0200034	Papule
ORPHA:900	HLA-DPB1	3115	HP:0001945	Fever
ORPHA:900	HLA-DPB1	3115	HP:0002206	Pulmonary fibrosis
ORPHA:900	HLA-DPB1	3115	HP:0006535	Recurrent intrapulmonary hemorrhage
ORPHA:900	HLA-DPB1	3115	HP:0000246	Sinusitis
ORPHA:900	HLA-DPB1	3115	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:900	HLA-DPB1	3115	HP:0002027	Abdominal pain
ORPHA:900	HLA-DPB1	3115	HP:0100820	Glomerulopathy
ORPHA:900	HLA-DPB1	3115	HP:0002633	Vasculitis
ORPHA:900	HLA-DPB1	3115	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:900	HLA-DPB1	3115	HP:0002113	Pulmonary infiltrates
ORPHA:900	HLA-DPB1	3115	HP:0002637	Cerebral ischemia
ORPHA:900	HLA-DPB1	3115	HP:0002829	Arthralgia
ORPHA:900	HLA-DPB1	3115	HP:0012735	Cough
ORPHA:900	HLA-DPB1	3115	HP:0100539	Periorbital edema
ORPHA:900	HLA-DPB1	3115	HP:0002960	Autoimmunity
ORPHA:900	HLA-DPB1	3115	HP:0002205	Recurrent respiratory infections
ORPHA:900	HLA-DPB1	3115	HP:0100533	Inflammatory abnormality of the eye
ORPHA:900	HLA-DPB1	3115	HP:0002105	Hemoptysis
ORPHA:900	HLA-DPB1	3115	HP:0011227	Elevated C-reactive protein level
ORPHA:900	HLA-DPB1	3115	HP:0001824	Weight loss
ORPHA:900	HLA-DPB1	3115	HP:0000421	Epistaxis
ORPHA:900	HLA-DPB1	3115	HP:0000790	Hematuria
ORPHA:900	HLA-DPB1	3115	HP:0002093	Respiratory insufficiency
ORPHA:900	HLA-DPB1	3115	HP:0100749	Chest pain
ORPHA:900	HLA-DPB1	3115	HP:0000093	Proteinuria
ORPHA:900	HLA-DPB1	3115	HP:0002017	Nausea and vomiting
ORPHA:900	HLA-DPB1	3115	HP:0002955	Granulomatosis
ORPHA:900	PTPN22	26191	HP:0000988	Skin rash
ORPHA:900	PTPN22	26191	HP:0012378	Fatigue
ORPHA:900	PTPN22	26191	HP:0000163	Abnormality of the oral cavity
ORPHA:900	PTPN22	26191	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:900	PTPN22	26191	HP:0200034	Papule
ORPHA:900	PTPN22	26191	HP:0001945	Fever
ORPHA:900	PTPN22	26191	HP:0002206	Pulmonary fibrosis
ORPHA:900	PTPN22	26191	HP:0006535	Recurrent intrapulmonary hemorrhage
ORPHA:900	PTPN22	26191	HP:0000246	Sinusitis
ORPHA:900	PTPN22	26191	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:900	PTPN22	26191	HP:0002027	Abdominal pain
ORPHA:900	PTPN22	26191	HP:0100820	Glomerulopathy
ORPHA:900	PTPN22	26191	HP:0002633	Vasculitis
ORPHA:900	PTPN22	26191	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:900	PTPN22	26191	HP:0002113	Pulmonary infiltrates
ORPHA:900	PTPN22	26191	HP:0002637	Cerebral ischemia
ORPHA:900	PTPN22	26191	HP:0002829	Arthralgia
ORPHA:900	PTPN22	26191	HP:0012735	Cough
ORPHA:900	PTPN22	26191	HP:0100539	Periorbital edema
ORPHA:900	PTPN22	26191	HP:0002960	Autoimmunity
ORPHA:900	PTPN22	26191	HP:0002205	Recurrent respiratory infections
ORPHA:900	PTPN22	26191	HP:0100533	Inflammatory abnormality of the eye
ORPHA:900	PTPN22	26191	HP:0002105	Hemoptysis
ORPHA:900	PTPN22	26191	HP:0011227	Elevated C-reactive protein level
ORPHA:900	PTPN22	26191	HP:0001824	Weight loss
ORPHA:900	PTPN22	26191	HP:0000421	Epistaxis
ORPHA:900	PTPN22	26191	HP:0000790	Hematuria
ORPHA:900	PTPN22	26191	HP:0002093	Respiratory insufficiency
ORPHA:900	PTPN22	26191	HP:0100749	Chest pain
ORPHA:900	PTPN22	26191	HP:0000093	Proteinuria
ORPHA:900	PTPN22	26191	HP:0002017	Nausea and vomiting
ORPHA:900	PTPN22	26191	HP:0002955	Granulomatosis
OMIM:607271	CASP8	841	HP:0002716	Lymphadenopathy
OMIM:607271	CASP8	841	HP:0000007	Autosomal recessive inheritance
OMIM:607271	CASP8	841	HP:0002099	Asthma
OMIM:607271	CASP8	841	HP:0002090	Pneumonia
OMIM:607271	CASP8	841	HP:0001744	Splenomegaly
OMIM:607271	CASP8	841	HP:0004322	Short stature
OMIM:607271	CASP8	841	HP:0005384	Defective B cell activation
OMIM:607271	CASP8	841	HP:0001508	Failure to thrive
OMIM:607271	CASP8	841	HP:0002028	Chronic diarrhea
OMIM:607271	CASP8	841	HP:0005425	Recurrent sinopulmonary infections
OMIM:607271	CASP8	841	HP:0000964	Eczema
OMIM:607271	CASP8	841	HP:0005419	Decreased T cell activation
OMIM:153480	PTEN	5728	HP:0000872	Hashimoto thyroiditis
OMIM:153480	PTEN	5728	HP:0012032	Lipoma
OMIM:153480	PTEN	5728	HP:0000256	Macrocephaly
OMIM:153480	PTEN	5728	HP:0000538	Pseudopapilledema
OMIM:153480	PTEN	5728	HP:0001943	Hypoglycemia
OMIM:153480	PTEN	5728	HP:0000494	Downslanted palpebral fissures
OMIM:153480	PTEN	5728	HP:0004099	Macrodactyly
OMIM:153480	PTEN	5728	HP:0000957	Cafe-au-lait spot
OMIM:153480	PTEN	5728	HP:0002576	Intussusception
OMIM:153480	PTEN	5728	HP:0002858	Meningioma
OMIM:153480	PTEN	5728	HP:0007873	Abnormally prominent line of Schwalbe
OMIM:153480	PTEN	5728	HP:0000486	Strabismus
OMIM:153480	PTEN	5728	HP:0003517	Birth length greater than 97th percentile
OMIM:153480	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:153480	PTEN	5728	HP:0000750	Delayed speech and language development
OMIM:153480	PTEN	5728	HP:0001028	Hemangioma
OMIM:153480	PTEN	5728	HP:0002194	Delayed gross motor development
OMIM:153480	PTEN	5728	HP:0000646	Amblyopia
OMIM:153480	PTEN	5728	HP:0001250	Seizures
OMIM:153480	PTEN	5728	HP:0001382	Joint hypermobility
OMIM:153480	PTEN	5728	HP:0002007	Frontal bossing
OMIM:153480	PTEN	5728	HP:0001014	Angiokeratoma
OMIM:153480	PTEN	5728	HP:0002573	Hematochezia
OMIM:153480	PTEN	5728	HP:0003621	Juvenile onset
OMIM:153480	PTEN	5728	HP:0008897	Postnatal growth retardation
OMIM:153480	PTEN	5728	HP:0000218	High palate
OMIM:153480	PTEN	5728	HP:0001249	Intellectual disability
OMIM:153480	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:153480	PTEN	5728	HP:0000040	Long penis
OMIM:153480	PTEN	5728	HP:0007074	Thick corpus callosum
OMIM:153480	PTEN	5728	HP:0002558	Supernumerary nipple
OMIM:153480	PTEN	5728	HP:0001012	Multiple lipomas
OMIM:153480	PTEN	5728	HP:0001290	Generalized hypotonia
OMIM:153480	PTEN	5728	HP:0002650	Scoliosis
OMIM:153480	PTEN	5728	HP:0000956	Acanthosis nigricans
OMIM:153480	PTEN	5728	HP:0003198	Myopathy
OMIM:153480	PTEN	5728	HP:0004390	Hamartomatous polyposis
OMIM:220111	LRPPRC	10128	HP:0003128	Lactic acidosis
OMIM:220111	LRPPRC	10128	HP:0003593	Infantile onset
OMIM:220111	LRPPRC	10128	HP:0007305	CNS demyelination
OMIM:220111	LRPPRC	10128	HP:0001263	Global developmental delay
OMIM:220111	LRPPRC	10128	HP:0000486	Strabismus
OMIM:220111	LRPPRC	10128	HP:0001251	Ataxia
OMIM:220111	LRPPRC	10128	HP:0001007	Hirsutism
OMIM:220111	LRPPRC	10128	HP:0001508	Failure to thrive
OMIM:220111	LRPPRC	10128	HP:0011220	Prominent forehead
OMIM:220111	LRPPRC	10128	HP:0002789	Tachypnea
OMIM:220111	LRPPRC	10128	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220111	LRPPRC	10128	HP:0000272	Malar flattening
OMIM:220111	LRPPRC	10128	HP:0002553	Highly arched eyebrow
OMIM:220111	LRPPRC	10128	HP:0001943	Hypoglycemia
OMIM:220111	LRPPRC	10128	HP:0000007	Autosomal recessive inheritance
OMIM:220111	LRPPRC	10128	HP:0002171	Gliosis
OMIM:220111	LRPPRC	10128	HP:0000431	Wide nasal bridge
OMIM:220111	LRPPRC	10128	HP:0001290	Generalized hypotonia
OMIM:220111	LRPPRC	10128	HP:0003074	Hyperglycemia
OMIM:220111	LRPPRC	10128	HP:0001337	Tremor
OMIM:220111	LRPPRC	10128	HP:0002151	Increased serum lactate
OMIM:220111	LRPPRC	10128	HP:0000463	Anteverted nares
OMIM:220111	LRPPRC	10128	HP:0011800	Midface retrusion
OMIM:220111	LRPPRC	10128	HP:0011096	Peripheral demyelination
OMIM:220111	LRPPRC	10128	HP:0002490	Increased CSF lactate
OMIM:220111	LRPPRC	10128	HP:0001414	Microvesicular hepatic steatosis
OMIM:220111	LRPPRC	10128	HP:0000316	Hypertelorism
OMIM:220111	LRPPRC	10128	HP:0000750	Delayed speech and language development
OMIM:220111	LRPPRC	10128	HP:0000294	Low anterior hairline
OMIM:611804	EPB41	2035	HP:0004445	Elliptocytosis
OMIM:611804	EPB41	2035	HP:0001878	Hemolytic anemia
OMIM:611804	EPB41	2035	HP:0000006	Autosomal dominant inheritance
OMIM:616974	TRMT10C	54931	HP:0001410	Decreased liver function
OMIM:616974	TRMT10C	54931	HP:0001290	Generalized hypotonia
OMIM:616974	TRMT10C	54931	HP:0002020	Gastroesophageal reflux
OMIM:616974	TRMT10C	54931	HP:0003348	Hyperalaninemia
OMIM:616974	TRMT10C	54931	HP:0001508	Failure to thrive
OMIM:616974	TRMT10C	54931	HP:0002151	Increased serum lactate
OMIM:616974	TRMT10C	54931	HP:0003128	Lactic acidosis
OMIM:616974	TRMT10C	54931	HP:0000007	Autosomal recessive inheritance
OMIM:616974	TRMT10C	54931	HP:0002490	Increased CSF lactate
OMIM:616974	TRMT10C	54931	HP:0002910	Elevated hepatic transaminases
OMIM:616974	TRMT10C	54931	HP:0003577	Congenital onset
OMIM:616974	TRMT10C	54931	HP:0011968	Feeding difficulties
OMIM:106100	SERPING1	710	HP:0000006	Autosomal dominant inheritance
OMIM:106100	SERPING1	710	HP:0012027	Laryngeal edema
OMIM:106100	SERPING1	710	HP:0002014	Diarrhea
OMIM:106100	SERPING1	710	HP:0005225	Intestinal edema
OMIM:106100	SERPING1	710	HP:0100665	Angioedema
OMIM:106100	SERPING1	710	HP:0002960	Autoimmunity
OMIM:106100	SERPING1	710	HP:0010783	Erythema
OMIM:106100	SERPING1	710	HP:0001600	Abnormality of the larynx
OMIM:106100	SERPING1	710	HP:0002027	Abdominal pain
OMIM:106100	SERPING1	710	HP:0011855	Pharyngeal edema
OMIM:106100	SERPING1	710	HP:0002013	Vomiting
OMIM:106100	SERPING1	710	HP:0003477	Peripheral axonal neuropathy
OMIM:616939	GPR88	54112	HP:0001263	Global developmental delay
OMIM:616939	GPR88	54112	HP:0000007	Autosomal recessive inheritance
OMIM:616939	GPR88	54112	HP:0002072	Chorea
OMIM:616939	GPR88	54112	HP:0001249	Intellectual disability
OMIM:616939	GPR88	54112	HP:0002465	Poor speech
OMIM:616939	GPR88	54112	HP:0002457	Abnormal head movements
ORPHA:228429	CAVIN1	284119	HP:0002019	Constipation
ORPHA:228429	CAVIN1	284119	HP:0001962	Palpitations
ORPHA:228429	CAVIN1	284119	HP:0003738	Exercise-induced myalgia
ORPHA:228429	CAVIN1	284119	HP:0000819	Diabetes mellitus
ORPHA:228429	CAVIN1	284119	HP:0002155	Hypertriglyceridemia
ORPHA:228429	CAVIN1	284119	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:228429	CAVIN1	284119	HP:0002015	Dysphagia
ORPHA:228429	CAVIN1	284119	HP:0002750	Delayed skeletal maturation
ORPHA:228429	CAVIN1	284119	HP:0003198	Myopathy
ORPHA:228429	CAVIN1	284119	HP:0002621	Atherosclerosis
ORPHA:228429	CAVIN1	284119	HP:0002910	Elevated hepatic transaminases
ORPHA:228429	CAVIN1	284119	HP:0000855	Insulin resistance
ORPHA:228429	CAVIN1	284119	HP:0003720	Generalized muscle hypertrophy
ORPHA:228429	CAVIN1	284119	HP:0002240	Hepatomegaly
ORPHA:228429	CAVIN1	284119	HP:0100578	Lipoatrophy
ORPHA:228429	CAVIN1	284119	HP:0005184	Prolonged QTc interval
ORPHA:228429	CAVIN1	284119	HP:0009073	Progressive proximal muscle weakness
ORPHA:228429	CAVIN1	284119	HP:0001508	Failure to thrive
ORPHA:228429	CAVIN1	284119	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:228429	CAVIN1	284119	HP:0002595	Ileus
ORPHA:228429	CAVIN1	284119	HP:0000963	Thin skin
ORPHA:228429	CAVIN1	284119	HP:0001371	Flexion contracture
ORPHA:228429	CAVIN1	284119	HP:0000869	Secondary amenorrhea
ORPHA:228429	CAVIN1	284119	HP:0000842	Hyperinsulinemia
ORPHA:228429	CAVIN1	284119	HP:0003552	Muscle stiffness
OMIM:259720	OSTM1	28962	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259720	OSTM1	28962	HP:0000007	Autosomal recessive inheritance
OMIM:259720	OSTM1	28962	HP:0011002	Osteopetrosis
OMIM:259720	OSTM1	28962	HP:0000238	Hydrocephalus
OMIM:259720	OSTM1	28962	HP:0030328	Decreased osteoclast count
OMIM:259720	OSTM1	28962	HP:0003826	Stillbirth
OMIM:212840	RNF216	54476	HP:0002059	Cerebral atrophy
OMIM:212840	RNF216	54476	HP:0000007	Autosomal recessive inheritance
OMIM:212840	RNF216	54476	HP:0000924	Abnormality of the skeletal system
OMIM:212840	RNF216	54476	HP:0001251	Ataxia
OMIM:212840	RNF216	54476	HP:0000789	Infertility
OMIM:212840	RNF216	54476	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212840	RNF216	54476	HP:0001135	Chorioretinal dystrophy
OMIM:212840	RNF216	54476	HP:0000726	Dementia
OMIM:212840	RNF216	54476	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212840	RNF216	54476	HP:0001260	Dysarthria
OMIM:212840	RNF216	54476	HP:0001272	Cerebellar atrophy
OMIM:600348	EML1	2009	HP:0001263	Global developmental delay
OMIM:600348	EML1	2009	HP:0000256	Macrocephaly
OMIM:600348	EML1	2009	HP:0001250	Seizures
OMIM:600348	EML1	2009	HP:0002126	Polymicrogyria
OMIM:600348	EML1	2009	HP:0002282	Heterotopia
OMIM:600348	EML1	2009	HP:0001257	Spasticity
OMIM:600348	EML1	2009	HP:0000007	Autosomal recessive inheritance
OMIM:600348	EML1	2009	HP:0001274	Agenesis of corpus callosum
OMIM:600348	EML1	2009	HP:0002360	Sleep disturbance
OMIM:600348	EML1	2009	HP:0010864	Intellectual disability, severe
OMIM:609307	FGF14	2259	HP:0003677	Slow progression
OMIM:609307	FGF14	2259	HP:0002354	Memory impairment
OMIM:609307	FGF14	2259	HP:0003390	Sensory axonal neuropathy
OMIM:609307	FGF14	2259	HP:0002346	Head tremor
OMIM:609307	FGF14	2259	HP:0007772	Impaired smooth pursuit
OMIM:609307	FGF14	2259	HP:0000006	Autosomal dominant inheritance
OMIM:609307	FGF14	2259	HP:0002078	Truncal ataxia
OMIM:609307	FGF14	2259	HP:0000641	Dysmetric saccades
OMIM:609307	FGF14	2259	HP:0001425	Heterogeneous
OMIM:609307	FGF14	2259	HP:0001256	Intellectual disability, mild
OMIM:609307	FGF14	2259	HP:0000486	Strabismus
ORPHA:2197	ADCY10	55811	HP:0008672	Calcium oxalate nephrolithiasis
ORPHA:2197	ADCY10	55811	HP:0012637	Renal calcium wasting
ORPHA:2197	ADCY10	55811	HP:0002150	Hypercalciuria
ORPHA:2197	ADCY10	55811	HP:0000938	Osteopenia
OMIM:125350	PTH1R	5745	HP:0000668	Hypodontia
OMIM:125350	PTH1R	5745	HP:0006352	Failure of eruption of permanent teeth
OMIM:125350	PTH1R	5745	HP:0006335	Persistence of primary teeth
OMIM:125350	PTH1R	5745	HP:0000006	Autosomal dominant inheritance
OMIM:551000	TRNT	4576	HP:0009069	Lethal infantile mitochondrial myopathy
OMIM:551000	TRNT	4576	HP:0001427	Mitochondrial inheritance
OMIM:551000	TRNT	4576	HP:0003128	Lactic acidosis
OMIM:551000	TRNT	4576	HP:0003198	Myopathy
OMIM:613097	LTBP3	4054	HP:0000677	Oligodontia
OMIM:613097	LTBP3	4054	HP:0001592	Selective tooth agenesis
OMIM:613097	LTBP3	4054	HP:0000007	Autosomal recessive inheritance
OMIM:613097	LTBP3	4054	HP:0011001	Increased bone mineral density
OMIM:176450	MNX1	3110	HP:0000011	Neurogenic bladder
OMIM:176450	MNX1	3110	HP:0000085	Horseshoe kidney
OMIM:176450	MNX1	3110	HP:0000813	Bicornuate uterus
OMIM:176450	MNX1	3110	HP:0000020	Urinary incontinence
OMIM:176450	MNX1	3110	HP:0002144	Tethered cord
OMIM:176450	MNX1	3110	HP:0004796	Gastrointestinal obstruction
OMIM:176450	MNX1	3110	HP:0009789	Perianal abscess
OMIM:176450	MNX1	3110	HP:0009793	Presacral teratoma
OMIM:176450	MNX1	3110	HP:0000006	Autosomal dominant inheritance
OMIM:176450	MNX1	3110	HP:0000010	Recurrent urinary tract infections
OMIM:176450	MNX1	3110	HP:0000143	Rectovaginal fistula
OMIM:176450	MNX1	3110	HP:0007293	Anterior sacral meningocele
OMIM:176450	MNX1	3110	HP:0010447	Anal fistula
OMIM:176450	MNX1	3110	HP:0002023	Anal atresia
OMIM:176450	MNX1	3110	HP:0000076	Vesicoureteral reflux
OMIM:176450	MNX1	3110	HP:0001153	Septate vagina
OMIM:176450	MNX1	3110	HP:0002025	Anal stenosis
OMIM:176450	MNX1	3110	HP:0001263	Global developmental delay
OMIM:176450	MNX1	3110	HP:0003829	Incomplete penetrance
OMIM:176450	MNX1	3110	HP:0003270	Abdominal distention
OMIM:176450	MNX1	3110	HP:0012450	Chronic constipation
OMIM:613267	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:616730	NUP107	57122	HP:0012579	Minimal change glomerulonephritis
OMIM:616730	NUP107	57122	HP:0003073	Hypoalbuminemia
OMIM:616730	NUP107	57122	HP:0003828	Variable expressivity
OMIM:616730	NUP107	57122	HP:0000100	Nephrotic syndrome
OMIM:616730	NUP107	57122	HP:0003676	Progressive
OMIM:616730	NUP107	57122	HP:0003774	Stage 5 chronic kidney disease
OMIM:616730	NUP107	57122	HP:0000007	Autosomal recessive inheritance
OMIM:616730	NUP107	57122	HP:0000093	Proteinuria
OMIM:206100	SLC11A2	4891	HP:0001903	Anemia
OMIM:206100	SLC11A2	4891	HP:0000007	Autosomal recessive inheritance
OMIM:206100	SLC11A2	4891	HP:0025066	Decreased mean corpuscular volume
OMIM:206100	SLC11A2	4891	HP:0001392	Abnormality of the liver
OMIM:206100	SLC11A2	4891	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:616900	TBCK	93627	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616900	TBCK	93627	HP:0003828	Variable expressivity
OMIM:616900	TBCK	93627	HP:0000007	Autosomal recessive inheritance
OMIM:616900	TBCK	93627	HP:0006989	Dysplastic corpus callosum
OMIM:616900	TBCK	93627	HP:0012471	Thick vermilion border
OMIM:616900	TBCK	93627	HP:0001321	Cerebellar hypoplasia
OMIM:616900	TBCK	93627	HP:0012444	Brain atrophy
OMIM:616900	TBCK	93627	HP:0002465	Poor speech
OMIM:616900	TBCK	93627	HP:0000340	Sloping forehead
OMIM:616900	TBCK	93627	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616900	TBCK	93627	HP:0001265	Hyporeflexia
OMIM:616900	TBCK	93627	HP:0012697	Small basal ganglia
OMIM:616900	TBCK	93627	HP:0000341	Narrow forehead
OMIM:616900	TBCK	93627	HP:0002059	Cerebral atrophy
OMIM:616900	TBCK	93627	HP:0002518	Abnormality of the periventricular white matter
OMIM:616900	TBCK	93627	HP:0003577	Congenital onset
OMIM:616900	TBCK	93627	HP:0010804	Tented upper lip vermilion
OMIM:616900	TBCK	93627	HP:0001298	Encephalopathy
OMIM:616900	TBCK	93627	HP:0000426	Prominent nasal bridge
OMIM:616900	TBCK	93627	HP:0000280	Coarse facial features
OMIM:616900	TBCK	93627	HP:0000414	Bulbous nose
ORPHA:225	TRNK	4566	HP:0007754	Macular dystrophy
ORPHA:225	TRNK	4566	HP:0000093	Proteinuria
ORPHA:225	TRNK	4566	HP:0002024	Malabsorption
ORPHA:225	TRNK	4566	HP:0003119	Abnormality of lipid metabolism
ORPHA:225	TRNK	4566	HP:0001635	Congestive heart failure
ORPHA:225	TRNK	4566	HP:0011675	Arrhythmia
ORPHA:225	TRNK	4566	HP:0002019	Constipation
ORPHA:225	TRNK	4566	HP:0000544	External ophthalmoplegia
ORPHA:225	TRNK	4566	HP:0000407	Sensorineural hearing impairment
ORPHA:225	TRNK	4566	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:225	TRNK	4566	HP:0000532	Chorioretinal abnormality
ORPHA:225	TRNK	4566	HP:0003326	Myalgia
ORPHA:225	TRNK	4566	HP:0000822	Hypertension
ORPHA:225	TRNK	4566	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:225	TRNK	4566	HP:0100820	Glomerulopathy
ORPHA:225	TRNK	4566	HP:0001324	Muscle weakness
ORPHA:225	TRNK	4566	HP:0005978	Type II diabetes mellitus
ORPHA:225	TRNL1	4567	HP:0007754	Macular dystrophy
ORPHA:225	TRNL1	4567	HP:0000093	Proteinuria
ORPHA:225	TRNL1	4567	HP:0002024	Malabsorption
ORPHA:225	TRNL1	4567	HP:0003119	Abnormality of lipid metabolism
ORPHA:225	TRNL1	4567	HP:0001635	Congestive heart failure
ORPHA:225	TRNL1	4567	HP:0011675	Arrhythmia
ORPHA:225	TRNL1	4567	HP:0002019	Constipation
ORPHA:225	TRNL1	4567	HP:0000544	External ophthalmoplegia
ORPHA:225	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
ORPHA:225	TRNL1	4567	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:225	TRNL1	4567	HP:0000532	Chorioretinal abnormality
ORPHA:225	TRNL1	4567	HP:0003326	Myalgia
ORPHA:225	TRNL1	4567	HP:0000822	Hypertension
ORPHA:225	TRNL1	4567	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:225	TRNL1	4567	HP:0100820	Glomerulopathy
ORPHA:225	TRNL1	4567	HP:0001324	Muscle weakness
ORPHA:225	TRNL1	4567	HP:0005978	Type II diabetes mellitus
ORPHA:225	TRNE	4556	HP:0007754	Macular dystrophy
ORPHA:225	TRNE	4556	HP:0000093	Proteinuria
ORPHA:225	TRNE	4556	HP:0002024	Malabsorption
ORPHA:225	TRNE	4556	HP:0003119	Abnormality of lipid metabolism
ORPHA:225	TRNE	4556	HP:0001635	Congestive heart failure
ORPHA:225	TRNE	4556	HP:0011675	Arrhythmia
ORPHA:225	TRNE	4556	HP:0002019	Constipation
ORPHA:225	TRNE	4556	HP:0000544	External ophthalmoplegia
ORPHA:225	TRNE	4556	HP:0000407	Sensorineural hearing impairment
ORPHA:225	TRNE	4556	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:225	TRNE	4556	HP:0000532	Chorioretinal abnormality
ORPHA:225	TRNE	4556	HP:0003326	Myalgia
ORPHA:225	TRNE	4556	HP:0000822	Hypertension
ORPHA:225	TRNE	4556	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:225	TRNE	4556	HP:0100820	Glomerulopathy
ORPHA:225	TRNE	4556	HP:0001324	Muscle weakness
ORPHA:225	TRNE	4556	HP:0005978	Type II diabetes mellitus
OMIM:159550	SAMD9L	219285	HP:0001251	Ataxia
OMIM:159550	SAMD9L	219285	HP:0000006	Autosomal dominant inheritance
OMIM:159550	SAMD9L	219285	HP:0000639	Nystagmus
OMIM:159550	SAMD9L	219285	HP:0001310	Dysmetria
OMIM:159550	SAMD9L	219285	HP:0001260	Dysarthria
OMIM:159550	SAMD9L	219285	HP:0000762	Decreased nerve conduction velocity
OMIM:159550	SAMD9L	219285	HP:0003828	Variable expressivity
OMIM:159550	SAMD9L	219285	HP:0006801	Hyperactive deep tendon reflexes
OMIM:159550	SAMD9L	219285	HP:0011448	Ankle clonus
OMIM:159550	SAMD9L	219285	HP:0002317	Unsteady gait
OMIM:159550	SAMD9L	219285	HP:0001908	Hypoplastic anemia
OMIM:159550	SAMD9L	219285	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:159550	SAMD9L	219285	HP:0001876	Pancytopenia
OMIM:159550	SAMD9L	219285	HP:0003487	Babinski sign
OMIM:159550	SAMD9L	219285	HP:0001272	Cerebellar atrophy
OMIM:159550	SAMD9L	219285	HP:0004820	Acute myelomonocytic leukemia
ORPHA:71289	HOXA11	3207	HP:0004209	Clinodactyly of the 5th finger
ORPHA:71289	HOXA11	3207	HP:0002974	Radioulnar synostosis
ORPHA:71289	HOXA11	3207	HP:0004859	Amegakaryocytic thrombocytopenia
ORPHA:71289	MECOM	2122	HP:0004209	Clinodactyly of the 5th finger
ORPHA:71289	MECOM	2122	HP:0002974	Radioulnar synostosis
ORPHA:71289	MECOM	2122	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:300983	FRMPD4	9758	HP:0001419	X-linked recessive inheritance
OMIM:300983	FRMPD4	9758	HP:0001249	Intellectual disability
OMIM:300983	FRMPD4	9758	HP:0001263	Global developmental delay
OMIM:300752	ALAS2	212	HP:0000992	Cutaneous photosensitivity
OMIM:300752	ALAS2	212	HP:0001423	X-linked dominant inheritance
OMIM:300752	ALAS2	212	HP:0012187	Increased erythrocyte protoporphyrin concentration
OMIM:300752	ALAS2	212	HP:0011463	Childhood onset
OMIM:617157	PRMT7	54496	HP:0001249	Intellectual disability
OMIM:617157	PRMT7	54496	HP:0002007	Frontal bossing
OMIM:617157	PRMT7	54496	HP:0001513	Obesity
OMIM:617157	PRMT7	54496	HP:0000455	Broad nasal tip
OMIM:617157	PRMT7	54496	HP:0000470	Short neck
OMIM:617157	PRMT7	54496	HP:0000278	Retrognathia
OMIM:617157	PRMT7	54496	HP:0000852	Pseudohypoparathyroidism
OMIM:617157	PRMT7	54496	HP:0000007	Autosomal recessive inheritance
OMIM:617157	PRMT7	54496	HP:0000286	Epicanthus
OMIM:617157	PRMT7	54496	HP:0009891	Underdeveloped supraorbital ridges
OMIM:617157	PRMT7	54496	HP:0004322	Short stature
OMIM:617157	PRMT7	54496	HP:0005280	Depressed nasal bridge
OMIM:617157	PRMT7	54496	HP:0010049	Short metacarpal
OMIM:617157	PRMT7	54496	HP:0000486	Strabismus
OMIM:617157	PRMT7	54496	HP:0001156	Brachydactyly
OMIM:617157	PRMT7	54496	HP:0000431	Wide nasal bridge
OMIM:617157	PRMT7	54496	HP:0012448	Delayed myelination
OMIM:617157	PRMT7	54496	HP:0000483	Astigmatism
OMIM:617157	PRMT7	54496	HP:0000233	Thin vermilion border
OMIM:617157	PRMT7	54496	HP:0000490	Deeply set eye
OMIM:617157	PRMT7	54496	HP:0001290	Generalized hypotonia
OMIM:617157	PRMT7	54496	HP:0000272	Malar flattening
OMIM:617157	PRMT7	54496	HP:0000750	Delayed speech and language development
OMIM:617157	PRMT7	54496	HP:0000343	Long philtrum
OMIM:617157	PRMT7	54496	HP:0012745	Short palpebral fissure
OMIM:617157	PRMT7	54496	HP:0001263	Global developmental delay
OMIM:617157	PRMT7	54496	HP:0001250	Seizures
OMIM:617157	PRMT7	54496	HP:0000218	High palate
OMIM:617157	PRMT7	54496	HP:0010743	Short metatarsal
OMIM:617157	PRMT7	54496	HP:0003593	Infantile onset
OMIM:617157	PRMT7	54496	HP:0000252	Microcephaly
OMIM:607236	PANK2	80025	HP:0000007	Autosomal recessive inheritance
OMIM:607236	PANK2	80025	HP:0001927	Acanthocytosis
OMIM:607236	PANK2	80025	HP:0007132	Pallidal degeneration
OMIM:607236	PANK2	80025	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:607236	PANK2	80025	HP:0003677	Slow progression
OMIM:607236	PANK2	80025	HP:0003621	Juvenile onset
OMIM:607236	PANK2	80025	HP:0002310	Orofacial dyskinesia
OMIM:607236	PANK2	80025	HP:0001257	Spasticity
OMIM:607236	PANK2	80025	HP:0001332	Dystonia
OMIM:607236	PANK2	80025	HP:0000726	Dementia
OMIM:607236	PANK2	80025	HP:0002454	Eye of the tiger anomaly of globus pallidus
OMIM:607236	PANK2	80025	HP:0001260	Dysarthria
OMIM:607236	PANK2	80025	HP:0002015	Dysphagia
OMIM:607236	PANK2	80025	HP:0000510	Rod-cone dystrophy
ORPHA:820	ADA2	51816	HP:0002376	Developmental regression
ORPHA:820	ADA2	51816	HP:0000708	Behavioral abnormality
ORPHA:820	ADA2	51816	HP:0001123	Visual field defect
ORPHA:820	ADA2	51816	HP:0000726	Dementia
ORPHA:820	ADA2	51816	HP:0000822	Hypertension
ORPHA:820	ADA2	51816	HP:0001324	Muscle weakness
ORPHA:820	ADA2	51816	HP:0100576	Amaurosis fugax
ORPHA:820	ADA2	51816	HP:0000965	Cutis marmorata
ORPHA:820	ADA2	51816	HP:0100545	Arterial stenosis
ORPHA:820	ADA2	51816	HP:0002076	Migraine
ORPHA:820	ADA2	51816	HP:0001727	Thromboembolic stroke
ORPHA:820	ADA2	51816	HP:0002354	Memory impairment
ORPHA:820	ADA2	51816	HP:0001270	Motor delay
ORPHA:820	ADA2	51816	HP:0002321	Vertigo
ORPHA:820	ADA2	51816	HP:0001269	Hemiparesis
OMIM:253010	GLB1	2720	HP:0000939	Osteoporosis
OMIM:253010	GLB1	2720	HP:0002808	Kyphosis
OMIM:253010	GLB1	2720	HP:0012069	Keratan sulfate excretion in urine
OMIM:253010	GLB1	2720	HP:0000904	Flaring of rib cage
OMIM:253010	GLB1	2720	HP:0003307	Hyperlordosis
OMIM:253010	GLB1	2720	HP:0000365	Hearing impairment
OMIM:253010	GLB1	2720	HP:0000926	Platyspondyly
OMIM:253010	GLB1	2720	HP:0002650	Scoliosis
OMIM:253010	GLB1	2720	HP:0002857	Genu valgum
OMIM:253010	GLB1	2720	HP:0003308	Cervical subluxation
OMIM:253010	GLB1	2720	HP:0003016	Metaphyseal widening
OMIM:253010	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:253010	GLB1	2720	HP:0000683	Grayish enamel
OMIM:253010	GLB1	2720	HP:0003311	Hypoplasia of the odontoid process
OMIM:253010	GLB1	2720	HP:0000687	Widely spaced teeth
OMIM:253010	GLB1	2720	HP:0008166	Decreased beta-galactosidase activity
OMIM:253010	GLB1	2720	HP:0001223	Pointed proximal second through fifth metacarpals
OMIM:253010	GLB1	2720	HP:0003277	Constricted iliac wings
OMIM:253010	GLB1	2720	HP:0000154	Wide mouth
OMIM:253010	GLB1	2720	HP:0000023	Inguinal hernia
OMIM:253010	GLB1	2720	HP:0003521	Disproportionate short-trunk short stature
OMIM:253010	GLB1	2720	HP:0002318	Cervical myelopathy
OMIM:253010	GLB1	2720	HP:0003300	Ovoid vertebral bodies
OMIM:253010	GLB1	2720	HP:0000670	Carious teeth
OMIM:253010	GLB1	2720	HP:0001388	Joint laxity
OMIM:253010	GLB1	2720	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253010	GLB1	2720	HP:0002240	Hepatomegaly
OMIM:253010	GLB1	2720	HP:0003049	Ulnar deviation of the wrist
OMIM:253010	GLB1	2720	HP:0002091	Restrictive ventilatory defect
OMIM:253010	GLB1	2720	HP:0003621	Juvenile onset
OMIM:253010	GLB1	2720	HP:0005292	Intimal thickening in the coronary arteries
OMIM:253010	GLB1	2720	HP:0000303	Mandibular prognathia
OMIM:253010	GLB1	2720	HP:0001650	Aortic valve stenosis
OMIM:253010	GLB1	2720	HP:0000884	Prominent sternum
OMIM:253010	GLB1	2720	HP:0000280	Coarse facial features
OMIM:253010	GLB1	2720	HP:0002673	Coxa valga
OMIM:253010	GLB1	2720	HP:0003053	Epiphyseal deformities of tubular bones
OMIM:253010	GLB1	2720	HP:0007759	Opacification of the corneal stroma
ORPHA:240	SHOX	6473	HP:0006248	Limited wrist movement
ORPHA:240	SHOX	6473	HP:0002857	Genu valgum
ORPHA:240	SHOX	6473	HP:0005019	Diaphyseal thickening
ORPHA:240	SHOX	6473	HP:0010579	Cone-shaped epiphysis
ORPHA:240	SHOX	6473	HP:0003067	Madelung deformity
ORPHA:240	SHOX	6473	HP:0100777	Exostoses
ORPHA:240	SHOX	6473	HP:0001804	Hypoplastic fingernail
ORPHA:240	SHOX	6473	HP:0003031	Ulnar bowing
ORPHA:240	SHOX	6473	HP:0001191	Abnormality of the carpal bones
ORPHA:240	SHOX	6473	HP:0003022	Hypoplasia of the ulna
ORPHA:240	SHOX	6473	HP:0002970	Genu varum
ORPHA:240	SHOX	6473	HP:0002982	Tibial bowing
ORPHA:240	SHOX	6473	HP:0003063	Abnormality of the humerus
ORPHA:240	SHOX	6473	HP:0000944	Abnormality of the metaphysis
ORPHA:240	SHOX	6473	HP:0002823	Abnormality of femur morphology
ORPHA:240	SHOX	6473	HP:0002984	Hypoplasia of the radius
ORPHA:240	SHOX	6473	HP:0003272	Abnormality of the hip bone
ORPHA:240	SHOX	6473	HP:0001156	Brachydactyly
ORPHA:240	SHOX	6473	HP:0001387	Joint stiffness
ORPHA:240	SHOX	6473	HP:0002648	Abnormality of calvarial morphology
ORPHA:240	SHOX	6473	HP:0000431	Wide nasal bridge
ORPHA:240	SHOX	6473	HP:0005736	Short tibia
ORPHA:240	SHOX	6473	HP:0003042	Elbow dislocation
ORPHA:240	SHOX	6473	HP:0006443	Patellar aplasia
ORPHA:240	SHOX	6473	HP:0008873	Disproportionate short-limb short stature
ORPHA:240	SHOX	6473	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:240	SHOX	6473	HP:0005280	Depressed nasal bridge
ORPHA:240	SHOX	6473	HP:0004209	Clinodactyly of the 5th finger
ORPHA:240	SHOX	6473	HP:0003027	Mesomelia
ORPHA:240	SHOX	6473	HP:0002983	Micromelia
ORPHA:240	SHOX	6473	HP:0006459	Dorsal subluxation of ulna
ORPHA:240	SHOX	6473	HP:0002986	Radial bowing
OMIM:602032	KRT85	3891	HP:0000006	Autosomal dominant inheritance
OMIM:602032	KRT85	3891	HP:0003777	Pili torti
OMIM:602032	KRT85	3891	HP:0000007	Autosomal recessive inheritance
OMIM:602032	KRT85	3891	HP:0008394	Congenital onychodystrophy
OMIM:602032	KRT85	3891	HP:0002223	Absent eyebrow
OMIM:602032	KRT85	3891	HP:0002299	Brittle hair
OMIM:602032	KRT85	3891	HP:0000561	Absent eyelashes
OMIM:602032	KRT85	3891	HP:0004524	Temporal hypotrichosis
OMIM:602032	KRT85	3891	HP:0001806	Onycholysis
OMIM:602032	KRT85	3891	HP:0007436	Hair-nail ectodermal dysplasia
OMIM:602032	KRT85	3891	HP:0008404	Nail dystrophy
OMIM:602032	KRT85	3891	HP:0001596	Alopecia
ORPHA:391665	ABCG5	64240	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	ABCG5	64240	HP:0030148	Heart murmur
ORPHA:391665	ABCG5	64240	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	ABCG5	64240	HP:0006693	Myocardial steatosis
ORPHA:391665	ABCG5	64240	HP:0004416	Precocious atherosclerosis
ORPHA:391665	ABCG5	64240	HP:0001397	Hepatic steatosis
ORPHA:391665	ABCG5	64240	HP:0005181	Premature coronary artery disease
ORPHA:391665	ABCG5	64240	HP:0012397	Aortic atherosclerosis
ORPHA:391665	ABCG5	64240	HP:0003124	Hypercholesterolemia
ORPHA:391665	ABCG5	64240	HP:0001645	Sudden cardiac death
ORPHA:391665	ABCG5	64240	HP:0003077	Hyperlipidemia
ORPHA:391665	ABCG5	64240	HP:0005162	Left ventricular failure
ORPHA:391665	ABCG5	64240	HP:0000822	Hypertension
ORPHA:391665	ABCG5	64240	HP:0002094	Dyspnea
ORPHA:391665	ABCG5	64240	HP:0001920	Renal artery stenosis
ORPHA:391665	ABCG5	64240	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	ABCG5	64240	HP:0005177	Premature arteriosclerosis
ORPHA:391665	ABCG5	64240	HP:0001658	Myocardial infarction
ORPHA:391665	ABCG5	64240	HP:0001681	Angina pectoris
ORPHA:391665	ABCG5	64240	HP:0004929	Coronary atherosclerosis
ORPHA:391665	ABCG5	64240	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	ABCG8	64241	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	ABCG8	64241	HP:0030148	Heart murmur
ORPHA:391665	ABCG8	64241	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	ABCG8	64241	HP:0006693	Myocardial steatosis
ORPHA:391665	ABCG8	64241	HP:0004416	Precocious atherosclerosis
ORPHA:391665	ABCG8	64241	HP:0001397	Hepatic steatosis
ORPHA:391665	ABCG8	64241	HP:0005181	Premature coronary artery disease
ORPHA:391665	ABCG8	64241	HP:0012397	Aortic atherosclerosis
ORPHA:391665	ABCG8	64241	HP:0003124	Hypercholesterolemia
ORPHA:391665	ABCG8	64241	HP:0001645	Sudden cardiac death
ORPHA:391665	ABCG8	64241	HP:0003077	Hyperlipidemia
ORPHA:391665	ABCG8	64241	HP:0005162	Left ventricular failure
ORPHA:391665	ABCG8	64241	HP:0000822	Hypertension
ORPHA:391665	ABCG8	64241	HP:0002094	Dyspnea
ORPHA:391665	ABCG8	64241	HP:0001920	Renal artery stenosis
ORPHA:391665	ABCG8	64241	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	ABCG8	64241	HP:0005177	Premature arteriosclerosis
ORPHA:391665	ABCG8	64241	HP:0001658	Myocardial infarction
ORPHA:391665	ABCG8	64241	HP:0001681	Angina pectoris
ORPHA:391665	ABCG8	64241	HP:0004929	Coronary atherosclerosis
ORPHA:391665	ABCG8	64241	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	APOB	338	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	APOB	338	HP:0030148	Heart murmur
ORPHA:391665	APOB	338	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	APOB	338	HP:0006693	Myocardial steatosis
ORPHA:391665	APOB	338	HP:0004416	Precocious atherosclerosis
ORPHA:391665	APOB	338	HP:0001397	Hepatic steatosis
ORPHA:391665	APOB	338	HP:0005181	Premature coronary artery disease
ORPHA:391665	APOB	338	HP:0012397	Aortic atherosclerosis
ORPHA:391665	APOB	338	HP:0003124	Hypercholesterolemia
ORPHA:391665	APOB	338	HP:0001645	Sudden cardiac death
ORPHA:391665	APOB	338	HP:0003077	Hyperlipidemia
ORPHA:391665	APOB	338	HP:0005162	Left ventricular failure
ORPHA:391665	APOB	338	HP:0000822	Hypertension
ORPHA:391665	APOB	338	HP:0002094	Dyspnea
ORPHA:391665	APOB	338	HP:0001920	Renal artery stenosis
ORPHA:391665	APOB	338	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	APOB	338	HP:0005177	Premature arteriosclerosis
ORPHA:391665	APOB	338	HP:0001658	Myocardial infarction
ORPHA:391665	APOB	338	HP:0001681	Angina pectoris
ORPHA:391665	APOB	338	HP:0004929	Coronary atherosclerosis
ORPHA:391665	APOB	338	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	LDLRAP1	26119	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	LDLRAP1	26119	HP:0030148	Heart murmur
ORPHA:391665	LDLRAP1	26119	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	LDLRAP1	26119	HP:0006693	Myocardial steatosis
ORPHA:391665	LDLRAP1	26119	HP:0004416	Precocious atherosclerosis
ORPHA:391665	LDLRAP1	26119	HP:0001397	Hepatic steatosis
ORPHA:391665	LDLRAP1	26119	HP:0005181	Premature coronary artery disease
ORPHA:391665	LDLRAP1	26119	HP:0012397	Aortic atherosclerosis
ORPHA:391665	LDLRAP1	26119	HP:0003124	Hypercholesterolemia
ORPHA:391665	LDLRAP1	26119	HP:0001645	Sudden cardiac death
ORPHA:391665	LDLRAP1	26119	HP:0003077	Hyperlipidemia
ORPHA:391665	LDLRAP1	26119	HP:0005162	Left ventricular failure
ORPHA:391665	LDLRAP1	26119	HP:0000822	Hypertension
ORPHA:391665	LDLRAP1	26119	HP:0002094	Dyspnea
ORPHA:391665	LDLRAP1	26119	HP:0001920	Renal artery stenosis
ORPHA:391665	LDLRAP1	26119	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	LDLRAP1	26119	HP:0005177	Premature arteriosclerosis
ORPHA:391665	LDLRAP1	26119	HP:0001658	Myocardial infarction
ORPHA:391665	LDLRAP1	26119	HP:0001681	Angina pectoris
ORPHA:391665	LDLRAP1	26119	HP:0004929	Coronary atherosclerosis
ORPHA:391665	LDLRAP1	26119	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	PCSK9	255738	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	PCSK9	255738	HP:0030148	Heart murmur
ORPHA:391665	PCSK9	255738	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	PCSK9	255738	HP:0006693	Myocardial steatosis
ORPHA:391665	PCSK9	255738	HP:0004416	Precocious atherosclerosis
ORPHA:391665	PCSK9	255738	HP:0001397	Hepatic steatosis
ORPHA:391665	PCSK9	255738	HP:0005181	Premature coronary artery disease
ORPHA:391665	PCSK9	255738	HP:0012397	Aortic atherosclerosis
ORPHA:391665	PCSK9	255738	HP:0003124	Hypercholesterolemia
ORPHA:391665	PCSK9	255738	HP:0001645	Sudden cardiac death
ORPHA:391665	PCSK9	255738	HP:0003077	Hyperlipidemia
ORPHA:391665	PCSK9	255738	HP:0005162	Left ventricular failure
ORPHA:391665	PCSK9	255738	HP:0000822	Hypertension
ORPHA:391665	PCSK9	255738	HP:0002094	Dyspnea
ORPHA:391665	PCSK9	255738	HP:0001920	Renal artery stenosis
ORPHA:391665	PCSK9	255738	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	PCSK9	255738	HP:0005177	Premature arteriosclerosis
ORPHA:391665	PCSK9	255738	HP:0001658	Myocardial infarction
ORPHA:391665	PCSK9	255738	HP:0001681	Angina pectoris
ORPHA:391665	PCSK9	255738	HP:0004929	Coronary atherosclerosis
ORPHA:391665	PCSK9	255738	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	LDLR	3949	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	LDLR	3949	HP:0030148	Heart murmur
ORPHA:391665	LDLR	3949	HP:3000062	Abnormality of internal carotid artery
ORPHA:391665	LDLR	3949	HP:0006693	Myocardial steatosis
ORPHA:391665	LDLR	3949	HP:0004416	Precocious atherosclerosis
ORPHA:391665	LDLR	3949	HP:0001397	Hepatic steatosis
ORPHA:391665	LDLR	3949	HP:0005181	Premature coronary artery disease
ORPHA:391665	LDLR	3949	HP:0012397	Aortic atherosclerosis
ORPHA:391665	LDLR	3949	HP:0003124	Hypercholesterolemia
ORPHA:391665	LDLR	3949	HP:0001645	Sudden cardiac death
ORPHA:391665	LDLR	3949	HP:0003077	Hyperlipidemia
ORPHA:391665	LDLR	3949	HP:0005162	Left ventricular failure
ORPHA:391665	LDLR	3949	HP:0000822	Hypertension
ORPHA:391665	LDLR	3949	HP:0002094	Dyspnea
ORPHA:391665	LDLR	3949	HP:0001920	Renal artery stenosis
ORPHA:391665	LDLR	3949	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	LDLR	3949	HP:0005177	Premature arteriosclerosis
ORPHA:391665	LDLR	3949	HP:0001658	Myocardial infarction
ORPHA:391665	LDLR	3949	HP:0001681	Angina pectoris
ORPHA:391665	LDLR	3949	HP:0004929	Coronary atherosclerosis
ORPHA:391665	LDLR	3949	HP:0007201	Cerebral artery atherosclerosis
OMIM:300887	COX7B	1349	HP:0001263	Global developmental delay
OMIM:300887	COX7B	1349	HP:0000316	Hypertelorism
OMIM:300887	COX7B	1349	HP:0000331	Short chin
OMIM:300887	COX7B	1349	HP:0000252	Microcephaly
OMIM:300887	COX7B	1349	HP:0001057	Aplasia cutis congenita
OMIM:300887	COX7B	1349	HP:0001423	X-linked dominant inheritance
OMIM:300887	COX7B	1349	HP:0004322	Short stature
OMIM:300887	COX7B	1349	HP:0001999	Abnormal facial shape
OMIM:235510	CCBE1	147372	HP:0000767	Pectus excavatum
OMIM:235510	CCBE1	147372	HP:0001004	Lymphedema
OMIM:235510	CCBE1	147372	HP:0001773	Short foot
OMIM:235510	CCBE1	147372	HP:0001302	Pachygyria
OMIM:235510	CCBE1	147372	HP:0000189	Narrow palate
OMIM:235510	CCBE1	147372	HP:0001530	Mild postnatal growth retardation
OMIM:235510	CCBE1	147372	HP:0009473	Joint contracture of the hand
OMIM:235510	CCBE1	147372	HP:0000407	Sensorineural hearing impairment
OMIM:235510	CCBE1	147372	HP:0002035	Rectal prolapse
OMIM:235510	CCBE1	147372	HP:0001629	Ventricular septal defect
OMIM:235510	CCBE1	147372	HP:0002866	Hypoplastic iliac wing
OMIM:235510	CCBE1	147372	HP:0003073	Hypoalbuminemia
OMIM:235510	CCBE1	147372	HP:0001007	Hirsutism
OMIM:235510	CCBE1	147372	HP:0012368	Flat face
OMIM:235510	CCBE1	147372	HP:0003298	Spina bifida occulta
OMIM:235510	CCBE1	147372	HP:0000160	Narrow mouth
OMIM:235510	CCBE1	147372	HP:0001762	Talipes equinovarus
OMIM:235510	CCBE1	147372	HP:0000028	Cryptorchidism
OMIM:235510	CCBE1	147372	HP:0001537	Umbilical hernia
OMIM:235510	CCBE1	147372	HP:0000272	Malar flattening
OMIM:235510	CCBE1	147372	HP:0008229	Thyroid lymphangiectasia
OMIM:235510	CCBE1	147372	HP:0000431	Wide nasal bridge
OMIM:235510	CCBE1	147372	HP:0002243	Protein-losing enteropathy
OMIM:235510	CCBE1	147372	HP:0012385	Camptodactyly
OMIM:235510	CCBE1	147372	HP:0000086	Ectopic kidney
OMIM:235510	CCBE1	147372	HP:0010554	Cutaneous finger syndactyly
OMIM:235510	CCBE1	147372	HP:0000684	Delayed eruption of teeth
OMIM:235510	CCBE1	147372	HP:0001249	Intellectual disability
OMIM:235510	CCBE1	147372	HP:0000316	Hypertelorism
OMIM:235510	CCBE1	147372	HP:0000212	Gingival overgrowth
OMIM:235510	CCBE1	147372	HP:0000677	Oligodontia
OMIM:235510	CCBE1	147372	HP:0004440	Coronal craniosynostosis
OMIM:235510	CCBE1	147372	HP:0000007	Autosomal recessive inheritance
OMIM:235510	CCBE1	147372	HP:0002593	Intestinal lymphangiectasia
OMIM:235510	CCBE1	147372	HP:0001698	Pericardial effusion
OMIM:235510	CCBE1	147372	HP:0004279	Short palm
OMIM:235510	CCBE1	147372	HP:0007598	Bilateral single transverse palmar creases
OMIM:235510	CCBE1	147372	HP:0001250	Seizures
OMIM:235510	CCBE1	147372	HP:0000126	Hydronephrosis
OMIM:235510	CCBE1	147372	HP:0002750	Delayed skeletal maturation
OMIM:235510	CCBE1	147372	HP:0001055	Erysipelas
OMIM:235510	CCBE1	147372	HP:0005280	Depressed nasal bridge
OMIM:235510	CCBE1	147372	HP:0000085	Horseshoe kidney
OMIM:235510	CCBE1	147372	HP:0000278	Retrognathia
OMIM:235510	CCBE1	147372	HP:0000405	Conductive hearing impairment
OMIM:235510	CCBE1	147372	HP:0000286	Epicanthus
OMIM:235510	CCBE1	147372	HP:0006531	Pleural lymphangiectasia
OMIM:235510	CCBE1	147372	HP:0000076	Vesicoureteral reflux
OMIM:235510	CCBE1	147372	HP:0000319	Smooth philtrum
OMIM:235510	CCBE1	147372	HP:0002650	Scoliosis
OMIM:235510	CCBE1	147372	HP:0000337	Broad forehead
OMIM:235510	CCBE1	147372	HP:0005183	Pericardial lymphangiectasia
OMIM:235510	CCBE1	147372	HP:0200055	Small hand
OMIM:235510	CCBE1	147372	HP:0000369	Low-set ears
OMIM:235510	CCBE1	147372	HP:0011065	Conical incisor
OMIM:235510	CCBE1	147372	HP:0100539	Periorbital edema
OMIM:235510	CCBE1	147372	HP:0000501	Glaucoma
OMIM:235510	CCBE1	147372	HP:0001631	Atrial septal defect
OMIM:235510	CCBE1	147372	HP:0002202	Pleural effusion
OMIM:235510	CCBE1	147372	HP:0000752	Hyperactivity
OMIM:614120	KIF7	374654	HP:0000175	Cleft palate
OMIM:614120	KIF7	374654	HP:0002119	Ventriculomegaly
OMIM:614120	KIF7	374654	HP:0000347	Micrognathia
OMIM:614120	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:614120	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:614120	KIF7	374654	HP:0002323	Anencephaly
OMIM:614120	KIF7	374654	HP:0000238	Hydrocephalus
OMIM:614120	KIF7	374654	HP:0100259	Postaxial polydactyly
OMIM:614120	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:614120	KIF7	374654	HP:0100258	Preaxial polydactyly
ORPHA:1667	EIF2AK3	9451	HP:0002570	Steatorrhea
ORPHA:1667	EIF2AK3	9451	HP:0002654	Multiple epiphyseal dysplasia
ORPHA:1667	EIF2AK3	9451	HP:0002827	Hip dislocation
ORPHA:1667	EIF2AK3	9451	HP:0003074	Hyperglycemia
ORPHA:1667	EIF2AK3	9451	HP:0002910	Elevated hepatic transaminases
ORPHA:1667	EIF2AK3	9451	HP:0004322	Short stature
ORPHA:1667	EIF2AK3	9451	HP:0000691	Microdontia
ORPHA:1667	EIF2AK3	9451	HP:0007229	Intracerebral periventricular calcifications
ORPHA:1667	EIF2AK3	9451	HP:0002868	Narrow iliac wings
ORPHA:1667	EIF2AK3	9451	HP:0006554	Acute hepatic failure
ORPHA:1667	EIF2AK3	9451	HP:0001252	Muscular hypotonia
ORPHA:1667	EIF2AK3	9451	HP:0001824	Weight loss
ORPHA:1667	EIF2AK3	9451	HP:0000938	Osteopenia
ORPHA:1667	EIF2AK3	9451	HP:0000939	Osteoporosis
ORPHA:1667	EIF2AK3	9451	HP:0000348	High forehead
ORPHA:1667	EIF2AK3	9451	HP:0000540	Hypermetropia
ORPHA:1667	EIF2AK3	9451	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:1667	EIF2AK3	9451	HP:0001249	Intellectual disability
ORPHA:1667	EIF2AK3	9451	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
ORPHA:1667	EIF2AK3	9451	HP:0010306	Short thorax
ORPHA:1667	EIF2AK3	9451	HP:0000926	Platyspondyly
ORPHA:1667	EIF2AK3	9451	HP:0002240	Hepatomegaly
ORPHA:1667	EIF2AK3	9451	HP:0002149	Hyperuricemia
ORPHA:1667	EIF2AK3	9451	HP:0001288	Gait disturbance
ORPHA:1667	EIF2AK3	9451	HP:0001993	Ketoacidosis
ORPHA:1667	EIF2AK3	9451	HP:0100626	Chronic hepatic failure
ORPHA:1667	EIF2AK3	9451	HP:0001944	Dehydration
ORPHA:1667	EIF2AK3	9451	HP:0001875	Neutropenia
ORPHA:1667	EIF2AK3	9451	HP:0001522	Death in infancy
ORPHA:1667	EIF2AK3	9451	HP:0000233	Thin vermilion border
ORPHA:1667	EIF2AK3	9451	HP:0002857	Genu valgum
ORPHA:1667	EIF2AK3	9451	HP:0100625	Enlarged thorax
ORPHA:1667	EIF2AK3	9451	HP:0001270	Motor delay
ORPHA:1667	EIF2AK3	9451	HP:0002656	Epiphyseal dysplasia
ORPHA:1667	EIF2AK3	9451	HP:0000286	Epicanthus
ORPHA:1667	EIF2AK3	9451	HP:0000124	Renal tubular dysfunction
ORPHA:1667	EIF2AK3	9451	HP:0001156	Brachydactyly
ORPHA:1667	EIF2AK3	9451	HP:0003076	Glycosuria
ORPHA:1667	EIF2AK3	9451	HP:0002673	Coxa valga
ORPHA:1667	EIF2AK3	9451	HP:0000325	Triangular face
ORPHA:1667	EIF2AK3	9451	HP:0000944	Abnormality of the metaphysis
ORPHA:1667	EIF2AK3	9451	HP:0001627	Abnormal heart morphology
ORPHA:1667	EIF2AK3	9451	HP:0002750	Delayed skeletal maturation
OMIM:613493	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:613493	CD19	930	HP:0000509	Conjunctivitis
OMIM:613493	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:613493	CD19	930	HP:0000403	Recurrent otitis media
OMIM:613493	CD19	930	HP:0002721	Immunodeficiency
OMIM:613493	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:613493	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:311300	FLNA	2316	HP:0000269	Prominent occiput
OMIM:311300	FLNA	2316	HP:0002164	Nail dysplasia
OMIM:311300	FLNA	2316	HP:0001770	Toe syndactyly
OMIM:311300	FLNA	2316	HP:0002737	Thick skull base
OMIM:311300	FLNA	2316	HP:0004232	Accessory carpal bones
OMIM:311300	FLNA	2316	HP:0006389	Limited knee flexion
OMIM:311300	FLNA	2316	HP:0002650	Scoliosis
OMIM:311300	FLNA	2316	HP:0003196	Short nose
OMIM:311300	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:311300	FLNA	2316	HP:0010055	Broad hallux
OMIM:311300	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:311300	FLNA	2316	HP:0000405	Conductive hearing impairment
OMIM:311300	FLNA	2316	HP:0001241	Capitate-hamate fusion
OMIM:311300	FLNA	2316	HP:0001592	Selective tooth agenesis
OMIM:311300	FLNA	2316	HP:0003083	Dislocated radial head
OMIM:311300	FLNA	2316	HP:0009642	Broad distal phalanx of the thumb
OMIM:311300	FLNA	2316	HP:0001377	Limited elbow extension
OMIM:311300	FLNA	2316	HP:0004322	Short stature
OMIM:311300	FLNA	2316	HP:0000175	Cleft palate
OMIM:311300	FLNA	2316	HP:0000316	Hypertelorism
OMIM:311300	FLNA	2316	HP:0002827	Hip dislocation
OMIM:311300	FLNA	2316	HP:0010041	Short 3rd metacarpal
OMIM:311300	FLNA	2316	HP:0001782	Bulbous tips of toes
OMIM:311300	FLNA	2316	HP:0001539	Omphalocele
OMIM:311300	FLNA	2316	HP:0000160	Narrow mouth
OMIM:311300	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:311300	FLNA	2316	HP:0002673	Coxa valga
OMIM:311300	FLNA	2316	HP:0000272	Malar flattening
OMIM:311300	FLNA	2316	HP:0008127	Bipartite calcaneus
OMIM:311300	FLNA	2316	HP:0008089	Abnormality of the fifth metatarsal bone
OMIM:311300	FLNA	2316	HP:0005090	Lateral femoral bowing
OMIM:311300	FLNA	2316	HP:0010109	Short hallux
OMIM:311300	FLNA	2316	HP:0002007	Frontal bossing
OMIM:311300	FLNA	2316	HP:0002688	Absent frontal sinuses
OMIM:311300	FLNA	2316	HP:0001256	Intellectual disability, mild
OMIM:311300	FLNA	2316	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:311300	FLNA	2316	HP:0010044	Short 4th metacarpal
OMIM:311300	FLNA	2316	HP:0012368	Flat face
OMIM:311300	FLNA	2316	HP:0001571	Multiple impacted teeth
OMIM:311300	FLNA	2316	HP:0005048	Synostosis of carpal bones
OMIM:311300	FLNA	2316	HP:0009882	Short distal phalanx of finger
OMIM:311300	FLNA	2316	HP:0001852	Sandal gap
OMIM:311300	FLNA	2316	HP:0008404	Nail dystrophy
OMIM:311300	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:311300	FLNA	2316	HP:0000431	Wide nasal bridge
OMIM:311300	FLNA	2316	HP:0010047	Short 5th metacarpal
OMIM:615360	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:617022	NEK9	91754	HP:0002089	Pulmonary hypoplasia
OMIM:617022	NEK9	91754	HP:0010557	Overlapping fingers
OMIM:617022	NEK9	91754	HP:0001511	Intrauterine growth retardation
OMIM:617022	NEK9	91754	HP:0001640	Cardiomegaly
OMIM:617022	NEK9	91754	HP:0001789	Hydrops fetalis
OMIM:617022	NEK9	91754	HP:0002623	Overriding aorta
OMIM:617022	NEK9	91754	HP:0000007	Autosomal recessive inheritance
OMIM:617022	NEK9	91754	HP:0000343	Long philtrum
OMIM:617022	NEK9	91754	HP:0000778	Hypoplasia of the thymus
OMIM:617022	NEK9	91754	HP:0001629	Ventricular septal defect
OMIM:617022	NEK9	91754	HP:0001762	Talipes equinovarus
OMIM:617022	NEK9	91754	HP:0000347	Micrognathia
OMIM:617022	NEK9	91754	HP:0000470	Short neck
OMIM:617022	NEK9	91754	HP:0002943	Thoracic scoliosis
OMIM:617022	NEK9	91754	HP:0000218	High palate
OMIM:617022	NEK9	91754	HP:0000189	Narrow palate
OMIM:617022	NEK9	91754	HP:0001562	Oligohydramnios
OMIM:617022	NEK9	91754	HP:0001989	Fetal akinesia sequence
OMIM:617022	NEK9	91754	HP:0001181	Adducted thumb
OMIM:617022	NEK9	91754	HP:0025258	Stiff neck
OMIM:607101	MYO3A	53904	HP:0000408	Progressive sensorineural hearing impairment
OMIM:607101	MYO3A	53904	HP:0001730	Progressive hearing impairment
OMIM:607101	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614868	STK4	6789	HP:0002841	Recurrent fungal infections
OMIM:614868	STK4	6789	HP:0002721	Immunodeficiency
OMIM:614868	STK4	6789	HP:0004429	Recurrent viral infections
OMIM:614868	STK4	6789	HP:0200043	Verrucae
OMIM:614868	STK4	6789	HP:0001631	Atrial septal defect
OMIM:614868	STK4	6789	HP:0000007	Autosomal recessive inheritance
OMIM:614868	STK4	6789	HP:0002718	Recurrent bacterial infections
OMIM:614868	STK4	6789	HP:0001875	Neutropenia
OMIM:614868	STK4	6789	HP:0001888	Lymphopenia
OMIM:617396	POP1	10940	HP:0002967	Cubitus valgus
OMIM:617396	POP1	10940	HP:0003423	Thoracolumbar kyphoscoliosis
OMIM:617396	POP1	10940	HP:0100864	Short femoral neck
OMIM:617396	POP1	10940	HP:0008802	Hypoplasia of the femoral head
OMIM:617396	POP1	10940	HP:0011800	Midface retrusion
OMIM:617396	POP1	10940	HP:0000007	Autosomal recessive inheritance
OMIM:617396	POP1	10940	HP:0002812	Coxa vara
OMIM:617396	POP1	10940	HP:0001156	Brachydactyly
OMIM:617396	POP1	10940	HP:0002750	Delayed skeletal maturation
OMIM:617396	POP1	10940	HP:0003300	Ovoid vertebral bodies
OMIM:617396	POP1	10940	HP:0008824	Hypoplastic iliac body
OMIM:302045	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:302045	DMD	1756	HP:0001417	X-linked inheritance
ORPHA:228305	CPT2	1376	HP:0001638	Cardiomyopathy
ORPHA:228305	CPT2	1376	HP:0002240	Hepatomegaly
ORPHA:228305	CPT2	1376	HP:0011675	Arrhythmia
ORPHA:228305	CPT2	1376	HP:0001250	Seizures
ORPHA:228305	CPT2	1376	HP:0001985	Hypoketotic hypoglycemia
ORPHA:228305	CPT2	1376	HP:0002017	Nausea and vomiting
ORPHA:228305	CPT2	1376	HP:0003198	Myopathy
OMIM:211600	ATP8B1	5205	HP:0006575	Intrahepatic cholestasis with episodic jaundice
OMIM:211600	ATP8B1	5205	HP:0000989	Pruritus
OMIM:211600	ATP8B1	5205	HP:0003510	Severe short stature
OMIM:211600	ATP8B1	5205	HP:0001744	Splenomegaly
OMIM:211600	ATP8B1	5205	HP:0000952	Jaundice
OMIM:211600	ATP8B1	5205	HP:0001508	Failure to thrive
OMIM:211600	ATP8B1	5205	HP:0002014	Diarrhea
OMIM:211600	ATP8B1	5205	HP:0002240	Hepatomegaly
OMIM:211600	ATP8B1	5205	HP:0000007	Autosomal recessive inheritance
OMIM:211600	ATP8B1	5205	HP:0003593	Infantile onset
OMIM:211600	ATP8B1	5205	HP:0002908	Conjugated hyperbilirubinemia
OMIM:211600	ATP8B1	5205	HP:0002630	Fat malabsorption
OMIM:211600	ATP8B1	5205	HP:0001394	Cirrhosis
ORPHA:1946	ROGDI	79641	HP:0000705	Amelogenesis imperfecta
ORPHA:1946	ROGDI	79641	HP:0000726	Dementia
ORPHA:1946	ROGDI	79641	HP:0002353	EEG abnormality
ORPHA:1946	ROGDI	79641	HP:0000966	Hypohidrosis
ORPHA:1946	ROGDI	79641	HP:0010864	Intellectual disability, severe
ORPHA:1946	ROGDI	79641	HP:0001250	Seizures
ORPHA:1946	ROGDI	79641	HP:0002376	Developmental regression
ORPHA:1946	ROGDI	79641	HP:0006286	Yellow-brown discoloration of the teeth
ORPHA:1946	ROGDI	79641	HP:0001257	Spasticity
ORPHA:1946	SLC13A5	284111	HP:0000705	Amelogenesis imperfecta
ORPHA:1946	SLC13A5	284111	HP:0000726	Dementia
ORPHA:1946	SLC13A5	284111	HP:0002353	EEG abnormality
ORPHA:1946	SLC13A5	284111	HP:0000966	Hypohidrosis
ORPHA:1946	SLC13A5	284111	HP:0010864	Intellectual disability, severe
ORPHA:1946	SLC13A5	284111	HP:0001250	Seizures
ORPHA:1946	SLC13A5	284111	HP:0002376	Developmental regression
ORPHA:1946	SLC13A5	284111	HP:0006286	Yellow-brown discoloration of the teeth
ORPHA:1946	SLC13A5	284111	HP:0001257	Spasticity
OMIM:615155	COL27A1	85301	HP:0002650	Scoliosis
OMIM:615155	COL27A1	85301	HP:0000316	Hypertelorism
OMIM:615155	COL27A1	85301	HP:0011220	Prominent forehead
OMIM:615155	COL27A1	85301	HP:0000007	Autosomal recessive inheritance
OMIM:615155	COL27A1	85301	HP:0000431	Wide nasal bridge
OMIM:615155	COL27A1	85301	HP:0003083	Dislocated radial head
OMIM:615155	COL27A1	85301	HP:0004322	Short stature
ORPHA:1458	LONP1	9361	HP:0000508	Ptosis
ORPHA:1458	LONP1	9361	HP:0001156	Brachydactyly
ORPHA:1458	LONP1	9361	HP:0004322	Short stature
ORPHA:1458	LONP1	9361	HP:0005280	Depressed nasal bridge
ORPHA:1458	LONP1	9361	HP:0005692	Joint hyperflexibility
ORPHA:1458	LONP1	9361	HP:0000286	Epicanthus
ORPHA:1458	LONP1	9361	HP:0001374	Congenital hip dislocation
ORPHA:1458	LONP1	9361	HP:0000396	Overfolded helix
ORPHA:1458	LONP1	9361	HP:0000682	Abnormality of dental enamel
ORPHA:1458	LONP1	9361	HP:0000463	Anteverted nares
ORPHA:1458	LONP1	9361	HP:0000684	Delayed eruption of teeth
ORPHA:1458	LONP1	9361	HP:0010049	Short metacarpal
ORPHA:1458	LONP1	9361	HP:0003196	Short nose
ORPHA:1458	LONP1	9361	HP:0004122	Midline defect of the nose
ORPHA:1458	LONP1	9361	HP:0012368	Flat face
ORPHA:1458	LONP1	9361	HP:0002650	Scoliosis
ORPHA:1458	LONP1	9361	HP:0003417	Coronal cleft vertebrae
ORPHA:1458	LONP1	9361	HP:0001252	Muscular hypotonia
ORPHA:1458	LONP1	9361	HP:0002750	Delayed skeletal maturation
ORPHA:1458	LONP1	9361	HP:0000518	Cataract
ORPHA:1458	LONP1	9361	HP:0001263	Global developmental delay
ORPHA:1458	LONP1	9361	HP:0000407	Sensorineural hearing impairment
ORPHA:1458	LONP1	9361	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1458	LONP1	9361	HP:0009901	Crumpled ear
ORPHA:1458	LONP1	9361	HP:0006482	Abnormality of dental morphology
OMIM:153650	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:153650	MYH9	4627	HP:0000123	Nephritis
OMIM:153650	MYH9	4627	HP:0000421	Epistaxis
OMIM:153650	MYH9	4627	HP:0002239	Gastrointestinal hemorrhage
OMIM:153650	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:153650	MYH9	4627	HP:0002907	Microscopic hematuria
OMIM:153650	MYH9	4627	HP:0001902	Giant platelets
OMIM:153650	MYH9	4627	HP:0000093	Proteinuria
OMIM:153650	MYH9	4627	HP:0000822	Hypertension
OMIM:153650	MYH9	4627	HP:0003774	Stage 5 chronic kidney disease
OMIM:153650	MYH9	4627	HP:0000518	Cataract
OMIM:614228	DYNC1H1	1778	HP:0002359	Frequent falls
OMIM:614228	DYNC1H1	1778	HP:0003812	Phenotypic variability
OMIM:614228	DYNC1H1	1778	HP:0003677	Slow progression
OMIM:614228	DYNC1H1	1778	HP:0002936	Distal sensory impairment
OMIM:614228	DYNC1H1	1778	HP:0002460	Distal muscle weakness
OMIM:614228	DYNC1H1	1778	HP:0009046	Difficulty running
OMIM:614228	DYNC1H1	1778	HP:0001265	Hyporeflexia
OMIM:614228	DYNC1H1	1778	HP:0003431	Decreased motor nerve conduction velocity
OMIM:614228	DYNC1H1	1778	HP:0001761	Pes cavus
OMIM:614228	DYNC1H1	1778	HP:0003690	Limb muscle weakness
OMIM:614228	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614228	DYNC1H1	1778	HP:0001270	Motor delay
OMIM:616491	NAGLU	4669	HP:0001265	Hyporeflexia
OMIM:616491	NAGLU	4669	HP:0003676	Progressive
OMIM:616491	NAGLU	4669	HP:0000006	Autosomal dominant inheritance
OMIM:616491	NAGLU	4669	HP:0002936	Distal sensory impairment
ORPHA:3144	SLC35D1	23169	HP:0012107	Increased fibular diameter
ORPHA:3144	SLC35D1	23169	HP:0001231	Abnormality of the fingernails
ORPHA:3144	SLC35D1	23169	HP:0000470	Short neck
ORPHA:3144	SLC35D1	23169	HP:0001800	Hypoplastic toenails
ORPHA:3144	SLC35D1	23169	HP:0000256	Macrocephaly
ORPHA:3144	SLC35D1	23169	HP:0000895	Lateral clavicle hook
ORPHA:3144	SLC35D1	23169	HP:0003038	Fibular hypoplasia
ORPHA:3144	SLC35D1	23169	HP:0000268	Dolichocephaly
ORPHA:3144	SLC35D1	23169	HP:0000272	Malar flattening
ORPHA:3144	SLC35D1	23169	HP:0000774	Narrow chest
ORPHA:3144	SLC35D1	23169	HP:0008479	Hypoplastic vertebral bodies
ORPHA:3144	SLC35D1	23169	HP:0001004	Lymphedema
ORPHA:3144	SLC35D1	23169	HP:0002983	Micromelia
ORPHA:3144	SLC35D1	23169	HP:0000882	Hypoplastic scapulae
ORPHA:3144	SLC35D1	23169	HP:0000028	Cryptorchidism
ORPHA:3144	SLC35D1	23169	HP:0008873	Disproportionate short-limb short stature
ORPHA:3144	SLC35D1	23169	HP:0001561	Polyhydramnios
ORPHA:3144	SLC35D1	23169	HP:0000946	Hypoplastic ilia
ORPHA:3144	SLC35D1	23169	HP:0000773	Short ribs
ORPHA:3144	INPPL1	3636	HP:0012107	Increased fibular diameter
ORPHA:3144	INPPL1	3636	HP:0001231	Abnormality of the fingernails
ORPHA:3144	INPPL1	3636	HP:0000470	Short neck
ORPHA:3144	INPPL1	3636	HP:0001800	Hypoplastic toenails
ORPHA:3144	INPPL1	3636	HP:0000256	Macrocephaly
ORPHA:3144	INPPL1	3636	HP:0000895	Lateral clavicle hook
ORPHA:3144	INPPL1	3636	HP:0003038	Fibular hypoplasia
ORPHA:3144	INPPL1	3636	HP:0000268	Dolichocephaly
ORPHA:3144	INPPL1	3636	HP:0000272	Malar flattening
ORPHA:3144	INPPL1	3636	HP:0000774	Narrow chest
ORPHA:3144	INPPL1	3636	HP:0008479	Hypoplastic vertebral bodies
ORPHA:3144	INPPL1	3636	HP:0001004	Lymphedema
ORPHA:3144	INPPL1	3636	HP:0002983	Micromelia
ORPHA:3144	INPPL1	3636	HP:0000882	Hypoplastic scapulae
ORPHA:3144	INPPL1	3636	HP:0000028	Cryptorchidism
ORPHA:3144	INPPL1	3636	HP:0008873	Disproportionate short-limb short stature
ORPHA:3144	INPPL1	3636	HP:0001561	Polyhydramnios
ORPHA:3144	INPPL1	3636	HP:0000946	Hypoplastic ilia
ORPHA:3144	INPPL1	3636	HP:0000773	Short ribs
ORPHA:735	MVK	4598	HP:0200044	Porokeratosis
ORPHA:735	MVK	4598	HP:0000989	Pruritus
ORPHA:735	MVK	4598	HP:0000992	Cutaneous photosensitivity
ORPHA:735	MVK	4598	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:735	MVK	4598	HP:0000962	Hyperkeratosis
ORPHA:735	PMVK	10654	HP:0200044	Porokeratosis
ORPHA:735	PMVK	10654	HP:0000989	Pruritus
ORPHA:735	PMVK	10654	HP:0000992	Cutaneous photosensitivity
ORPHA:735	PMVK	10654	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:735	PMVK	10654	HP:0000962	Hyperkeratosis
ORPHA:412	APOE	348	HP:0010874	Tendon xanthomatosis
ORPHA:412	APOE	348	HP:0002240	Hepatomegaly
ORPHA:412	APOE	348	HP:0001114	Xanthelasma
ORPHA:412	APOE	348	HP:0001513	Obesity
ORPHA:412	APOE	348	HP:0001397	Hepatic steatosis
ORPHA:412	APOE	348	HP:0002635	Atheromatosis
ORPHA:412	APOE	348	HP:0003124	Hypercholesterolemia
ORPHA:412	APOE	348	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:412	APOE	348	HP:0002155	Hypertriglyceridemia
ORPHA:412	APOE	348	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:412	APOE	348	HP:0000819	Diabetes mellitus
ORPHA:412	APOE	348	HP:0001084	Corneal arcus
ORPHA:3166	GNE	10020	HP:0002487	Hyperkinesis
ORPHA:3166	GNE	10020	HP:0010535	Sleep apnea
ORPHA:3166	GNE	10020	HP:0000286	Epicanthus
ORPHA:3166	GNE	10020	HP:0001847	Long hallux
ORPHA:3166	GNE	10020	HP:0000943	Dysostosis multiplex
ORPHA:3166	GNE	10020	HP:0001250	Seizures
ORPHA:3166	GNE	10020	HP:0001382	Joint hypermobility
ORPHA:3166	GNE	10020	HP:0000316	Hypertelorism
ORPHA:3166	GNE	10020	HP:0008443	Spinal deformities
ORPHA:3166	GNE	10020	HP:0002910	Elevated hepatic transaminases
ORPHA:3166	GNE	10020	HP:0001256	Intellectual disability, mild
ORPHA:3166	GNE	10020	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:3166	GNE	10020	HP:0000369	Low-set ears
ORPHA:3166	GNE	10020	HP:0000431	Wide nasal bridge
ORPHA:3166	GNE	10020	HP:0002240	Hepatomegaly
ORPHA:3166	GNE	10020	HP:0003645	Prolonged partial thromboplastin time
ORPHA:3166	GNE	10020	HP:0012103	Abnormality of the mitochondrion
ORPHA:3166	GNE	10020	HP:0001081	Cholelithiasis
ORPHA:3166	GNE	10020	HP:0001433	Hepatosplenomegaly
ORPHA:3166	GNE	10020	HP:0004691	2-3 toe syndactyly
ORPHA:3166	GNE	10020	HP:0008151	Prolonged prothrombin time
ORPHA:3166	GNE	10020	HP:0000319	Smooth philtrum
ORPHA:3166	GNE	10020	HP:0002474	Expressive language delay
ORPHA:3166	GNE	10020	HP:0000280	Coarse facial features
ORPHA:3166	GNE	10020	HP:0002574	Episodic abdominal pain
ORPHA:3166	GNE	10020	HP:0002705	High, narrow palate
ORPHA:3166	GNE	10020	HP:0002781	Upper airway obstruction
ORPHA:3166	GNE	10020	HP:0000629	Periorbital fullness
ORPHA:3166	GNE	10020	HP:0011220	Prominent forehead
ORPHA:3166	GNE	10020	HP:0001609	Hoarse voice
ORPHA:3166	GNE	10020	HP:0001290	Generalized hypotonia
ORPHA:3166	GNE	10020	HP:0000219	Thin upper lip vermilion
ORPHA:3166	GNE	10020	HP:0002354	Memory impairment
OMIM:616321	CHRND	1144	HP:0003593	Infantile onset
OMIM:616321	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616321	CHRND	1144	HP:0002015	Dysphagia
OMIM:616321	CHRND	1144	HP:0000006	Autosomal dominant inheritance
OMIM:616321	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616321	CHRND	1144	HP:0000508	Ptosis
OMIM:616321	CHRND	1144	HP:0001319	Neonatal hypotonia
OMIM:616321	CHRND	1144	HP:0003324	Generalized muscle weakness
OMIM:616321	CHRND	1144	HP:0003388	Easy fatigability
OMIM:616321	CHRND	1144	HP:0003676	Progressive
OMIM:616321	CHRND	1144	HP:0002540	Inability to walk
OMIM:217800	CHST6	4166	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217800	CHST6	4166	HP:0000495	Recurrent corneal erosions
OMIM:217800	CHST6	4166	HP:0001131	Corneal dystrophy
OMIM:217800	CHST6	4166	HP:0007754	Macular dystrophy
OMIM:217800	CHST6	4166	HP:0000613	Photophobia
OMIM:217800	CHST6	4166	HP:0000007	Autosomal recessive inheritance
OMIM:217800	CHST6	4166	HP:0003621	Juvenile onset
OMIM:217800	CHST6	4166	HP:0007856	Punctate opacification of the cornea
OMIM:604273	ATPAF2	91647	HP:0001508	Failure to thrive
OMIM:604273	ATPAF2	91647	HP:0001251	Ataxia
OMIM:604273	ATPAF2	91647	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604273	ATPAF2	91647	HP:0000426	Prominent nasal bridge
OMIM:604273	ATPAF2	91647	HP:0001290	Generalized hypotonia
OMIM:604273	ATPAF2	91647	HP:0000047	Hypospadias
OMIM:604273	ATPAF2	91647	HP:0000252	Microcephaly
OMIM:604273	ATPAF2	91647	HP:0000007	Autosomal recessive inheritance
OMIM:604273	ATPAF2	91647	HP:0000369	Low-set ears
OMIM:604273	ATPAF2	91647	HP:0003128	Lactic acidosis
OMIM:604273	ATPAF2	91647	HP:0002240	Hepatomegaly
OMIM:604273	ATPAF2	91647	HP:0002151	Increased serum lactate
OMIM:604273	ATPAF2	91647	HP:0001263	Global developmental delay
OMIM:604273	ATPAF2	91647	HP:0000028	Cryptorchidism
OMIM:604273	ATPAF2	91647	HP:0003593	Infantile onset
OMIM:604273	ATPAF2	91647	HP:0000278	Retrognathia
OMIM:604273	ATPAF2	91647	HP:0004322	Short stature
OMIM:604273	ATPAF2	91647	HP:0001987	Hyperammonemia
OMIM:604273	ATPAF2	91647	HP:0003535	3-Methylglutaconic aciduria
OMIM:608776	ALG9	79796	HP:0001250	Seizures
OMIM:608776	ALG9	79796	HP:0003186	Inverted nipples
OMIM:608776	ALG9	79796	HP:0000007	Autosomal recessive inheritance
OMIM:608776	ALG9	79796	HP:0001263	Global developmental delay
OMIM:608776	ALG9	79796	HP:0001290	Generalized hypotonia
OMIM:608776	ALG9	79796	HP:0002283	Global brain atrophy
OMIM:608776	ALG9	79796	HP:0002188	Delayed CNS myelination
OMIM:608776	ALG9	79796	HP:0000565	Esotropia
OMIM:608776	ALG9	79796	HP:0001698	Pericardial effusion
OMIM:608776	ALG9	79796	HP:0001433	Hepatosplenomegaly
OMIM:608776	ALG9	79796	HP:0001508	Failure to thrive
OMIM:168605	DCTN1	1639	HP:0001824	Weight loss
OMIM:168605	DCTN1	1639	HP:0002067	Bradykinesia
OMIM:168605	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:168605	DCTN1	1639	HP:0001260	Dysarthria
OMIM:168605	DCTN1	1639	HP:0001621	Weak voice
OMIM:168605	DCTN1	1639	HP:0002063	Rigidity
OMIM:168605	DCTN1	1639	HP:0003678	Rapidly progressive
OMIM:168605	DCTN1	1639	HP:0000716	Depressivity
OMIM:168605	DCTN1	1639	HP:0000298	Mask-like facies
OMIM:168605	DCTN1	1639	HP:0000741	Apathy
OMIM:168605	DCTN1	1639	HP:0002093	Respiratory insufficiency
OMIM:168605	DCTN1	1639	HP:0000511	Vertical supranuclear gaze palsy
OMIM:168605	DCTN1	1639	HP:0000719	Inappropriate behavior
OMIM:168605	DCTN1	1639	HP:0100785	Insomnia
OMIM:168605	DCTN1	1639	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:168605	DCTN1	1639	HP:0001337	Tremor
OMIM:168605	DCTN1	1639	HP:0007110	Central hypoventilation
OMIM:168605	DCTN1	1639	HP:0001300	Parkinsonism
OMIM:168605	DCTN1	1639	HP:0002791	Hypoventilation
OMIM:168605	DCTN1	1639	HP:0007311	Short stepped shuffling gait
OMIM:162100	SEPT9	10801	HP:0000160	Narrow mouth
OMIM:162100	SEPT9	10801	HP:0001324	Muscle weakness
OMIM:162100	SEPT9	10801	HP:0000006	Autosomal dominant inheritance
OMIM:162100	SEPT9	10801	HP:0009830	Peripheral neuropathy
OMIM:162100	SEPT9	10801	HP:0045054	Brachial plexus neuropathy
OMIM:162100	SEPT9	10801	HP:0005280	Depressed nasal bridge
OMIM:162100	SEPT9	10801	HP:0004322	Short stature
OMIM:162100	SEPT9	10801	HP:0000508	Ptosis
OMIM:162100	SEPT9	10801	HP:0040078	Axonal degeneration
OMIM:162100	SEPT9	10801	HP:0000601	Hypotelorism
OMIM:162100	SEPT9	10801	HP:0000175	Cleft palate
OMIM:162100	SEPT9	10801	HP:0000582	Upslanted palpebral fissure
OMIM:162100	SEPT9	10801	HP:0000490	Deeply set eye
OMIM:162100	SEPT9	10801	HP:0000324	Facial asymmetry
OMIM:162100	SEPT9	10801	HP:0003202	Skeletal muscle atrophy
OMIM:162100	SEPT9	10801	HP:0000581	Blepharophimosis
OMIM:162100	SEPT9	10801	HP:0000286	Epicanthus
OMIM:162100	SEPT9	10801	HP:0000369	Low-set ears
OMIM:609273	KBTBD13	390594	HP:0000006	Autosomal dominant inheritance
OMIM:609273	KBTBD13	390594	HP:0003722	Neck flexor weakness
OMIM:609273	KBTBD13	390594	HP:0003546	Exercise intolerance
OMIM:609273	KBTBD13	390594	HP:0003198	Myopathy
OMIM:609273	KBTBD13	390594	HP:0003798	Nemaline bodies
OMIM:609273	KBTBD13	390594	HP:0003690	Limb muscle weakness
OMIM:609273	KBTBD13	390594	HP:0009046	Difficulty running
OMIM:609273	KBTBD13	390594	HP:0003552	Muscle stiffness
OMIM:609273	KBTBD13	390594	HP:0003677	Slow progression
OMIM:609273	KBTBD13	390594	HP:0001288	Gait disturbance
OMIM:609273	KBTBD13	390594	HP:0003551	Difficulty climbing stairs
OMIM:616361	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:616361	DNAJC13	23317	HP:0002063	Rigidity
OMIM:616361	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:616361	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:616361	DNAJC13	23317	HP:0001337	Tremor
OMIM:616361	DNAJC13	23317	HP:0002172	Postural instability
OMIM:616361	DNAJC13	23317	HP:0003677	Slow progression
OMIM:616361	DNAJC13	23317	HP:0100315	Lewy bodies
OMIM:609942	KRAS	3845	HP:0000316	Hypertelorism
OMIM:609942	KRAS	3845	HP:0004322	Short stature
OMIM:609942	KRAS	3845	HP:0001263	Global developmental delay
OMIM:609942	KRAS	3845	HP:0004442	Sagittal craniosynostosis
OMIM:609942	KRAS	3845	HP:0002007	Frontal bossing
OMIM:609942	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:609942	KRAS	3845	HP:0000369	Low-set ears
OMIM:609942	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:609942	KRAS	3845	HP:0000465	Webbed neck
OMIM:609942	KRAS	3845	HP:0000463	Anteverted nares
OMIM:609942	KRAS	3845	HP:0003196	Short nose
OMIM:609942	KRAS	3845	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	KRAS	3845	HP:0001629	Ventricular septal defect
OMIM:609942	KRAS	3845	HP:0011995	Atrial septal dilatation
OMIM:239100	SOST	50964	HP:0000365	Hearing impairment
OMIM:239100	SOST	50964	HP:0011001	Increased bone mineral density
OMIM:239100	SOST	50964	HP:0004437	Cranial hyperostosis
OMIM:239100	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:239100	SOST	50964	HP:0006824	Cranial nerve paralysis
OMIM:239100	SOST	50964	HP:0007958	Optic atrophy from cranial nerve compression
OMIM:239100	SOST	50964	HP:0003155	Elevated alkaline phosphatase
OMIM:239100	SOST	50964	HP:0000935	Thickened cortex of long bones
OMIM:239100	SOST	50964	HP:0002315	Headache
ORPHA:2556	COX7B	1349	HP:0000528	Anophthalmia
ORPHA:2556	COX7B	1349	HP:0011531	Vitritis
ORPHA:2556	COX7B	1349	HP:0000568	Microphthalmia
ORPHA:2556	COX7B	1349	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2556	COX7B	1349	HP:0000499	Abnormality of the eyelashes
ORPHA:2556	COX7B	1349	HP:0001053	Hypopigmented skin patches
ORPHA:2556	COX7B	1349	HP:0001644	Dilated cardiomyopathy
ORPHA:2556	COX7B	1349	HP:0000347	Micrognathia
ORPHA:2556	COX7B	1349	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2556	COX7B	1349	HP:0000431	Wide nasal bridge
ORPHA:2556	COX7B	1349	HP:0000278	Retrognathia
ORPHA:2556	COX7B	1349	HP:0000445	Wide nose
ORPHA:2556	COX7B	1349	HP:0010783	Erythema
ORPHA:2556	COX7B	1349	HP:0011800	Midface retrusion
ORPHA:2556	COX7B	1349	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:2556	COX7B	1349	HP:0001999	Abnormal facial shape
ORPHA:2556	COX7B	1349	HP:0003510	Severe short stature
ORPHA:2556	COX7B	1349	HP:0009939	Mandibular aplasia
ORPHA:2556	COX7B	1349	HP:0000647	Sclerocornea
ORPHA:2556	COX7B	1349	HP:0001671	Abnormality of the cardiac septa
ORPHA:2556	COX7B	1349	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2556	COX7B	1349	HP:0011675	Arrhythmia
ORPHA:2556	COX7B	1349	HP:0000953	Hyperpigmentation of the skin
ORPHA:2556	COX7B	1349	HP:0004334	Dermal atrophy
ORPHA:2556	NDUFB11	54539	HP:0000528	Anophthalmia
ORPHA:2556	NDUFB11	54539	HP:0011531	Vitritis
ORPHA:2556	NDUFB11	54539	HP:0000568	Microphthalmia
ORPHA:2556	NDUFB11	54539	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2556	NDUFB11	54539	HP:0000499	Abnormality of the eyelashes
ORPHA:2556	NDUFB11	54539	HP:0001053	Hypopigmented skin patches
ORPHA:2556	NDUFB11	54539	HP:0001644	Dilated cardiomyopathy
ORPHA:2556	NDUFB11	54539	HP:0000347	Micrognathia
ORPHA:2556	NDUFB11	54539	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2556	NDUFB11	54539	HP:0000431	Wide nasal bridge
ORPHA:2556	NDUFB11	54539	HP:0000278	Retrognathia
ORPHA:2556	NDUFB11	54539	HP:0000445	Wide nose
ORPHA:2556	NDUFB11	54539	HP:0010783	Erythema
ORPHA:2556	NDUFB11	54539	HP:0011800	Midface retrusion
ORPHA:2556	NDUFB11	54539	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:2556	NDUFB11	54539	HP:0001999	Abnormal facial shape
ORPHA:2556	NDUFB11	54539	HP:0003510	Severe short stature
ORPHA:2556	NDUFB11	54539	HP:0009939	Mandibular aplasia
ORPHA:2556	NDUFB11	54539	HP:0000647	Sclerocornea
ORPHA:2556	NDUFB11	54539	HP:0001671	Abnormality of the cardiac septa
ORPHA:2556	NDUFB11	54539	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2556	NDUFB11	54539	HP:0011675	Arrhythmia
ORPHA:2556	NDUFB11	54539	HP:0000953	Hyperpigmentation of the skin
ORPHA:2556	NDUFB11	54539	HP:0004334	Dermal atrophy
ORPHA:2556	HCCS	3052	HP:0000528	Anophthalmia
ORPHA:2556	HCCS	3052	HP:0011531	Vitritis
ORPHA:2556	HCCS	3052	HP:0000568	Microphthalmia
ORPHA:2556	HCCS	3052	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2556	HCCS	3052	HP:0000499	Abnormality of the eyelashes
ORPHA:2556	HCCS	3052	HP:0001053	Hypopigmented skin patches
ORPHA:2556	HCCS	3052	HP:0001644	Dilated cardiomyopathy
ORPHA:2556	HCCS	3052	HP:0000347	Micrognathia
ORPHA:2556	HCCS	3052	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2556	HCCS	3052	HP:0000431	Wide nasal bridge
ORPHA:2556	HCCS	3052	HP:0000278	Retrognathia
ORPHA:2556	HCCS	3052	HP:0000445	Wide nose
ORPHA:2556	HCCS	3052	HP:0010783	Erythema
ORPHA:2556	HCCS	3052	HP:0011800	Midface retrusion
ORPHA:2556	HCCS	3052	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:2556	HCCS	3052	HP:0001999	Abnormal facial shape
ORPHA:2556	HCCS	3052	HP:0003510	Severe short stature
ORPHA:2556	HCCS	3052	HP:0009939	Mandibular aplasia
ORPHA:2556	HCCS	3052	HP:0000647	Sclerocornea
ORPHA:2556	HCCS	3052	HP:0001671	Abnormality of the cardiac septa
ORPHA:2556	HCCS	3052	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2556	HCCS	3052	HP:0011675	Arrhythmia
ORPHA:2556	HCCS	3052	HP:0000953	Hyperpigmentation of the skin
ORPHA:2556	HCCS	3052	HP:0004334	Dermal atrophy
OMIM:258480	INPPL1	3636	HP:0000007	Autosomal recessive inheritance
OMIM:258480	INPPL1	3636	HP:0005280	Depressed nasal bridge
OMIM:258480	INPPL1	3636	HP:0000969	Edema
OMIM:258480	INPPL1	3636	HP:0001538	Protuberant abdomen
OMIM:258480	INPPL1	3636	HP:0001591	Bell-shaped thorax
OMIM:258480	INPPL1	3636	HP:0001561	Polyhydramnios
OMIM:258480	INPPL1	3636	HP:0001290	Generalized hypotonia
OMIM:258480	INPPL1	3636	HP:0008873	Disproportionate short-limb short stature
OMIM:258480	INPPL1	3636	HP:0003180	Flat acetabular roof
OMIM:258480	INPPL1	3636	HP:0000463	Anteverted nares
OMIM:258480	INPPL1	3636	HP:0003026	Short long bone
OMIM:258480	INPPL1	3636	HP:0000470	Short neck
OMIM:258480	INPPL1	3636	HP:0000922	Posterior rib cupping
OMIM:258480	INPPL1	3636	HP:0004565	Severe platyspondyly
OMIM:258480	INPPL1	3636	HP:0003173	Hypoplastic pubic bone
OMIM:258480	INPPL1	3636	HP:0000239	Large fontanelles
OMIM:258480	INPPL1	3636	HP:0008905	Rhizomelia
OMIM:258480	INPPL1	3636	HP:0002007	Frontal bossing
OMIM:258480	INPPL1	3636	HP:0000256	Macrocephaly
OMIM:258480	INPPL1	3636	HP:0000774	Narrow chest
OMIM:258480	INPPL1	3636	HP:0000907	Anterior rib cupping
OMIM:258480	INPPL1	3636	HP:0004279	Short palm
OMIM:258480	INPPL1	3636	HP:0003177	Squared iliac bones
OMIM:258480	INPPL1	3636	HP:0003196	Short nose
OMIM:258480	INPPL1	3636	HP:0008479	Hypoplastic vertebral bodies
OMIM:258480	INPPL1	3636	HP:0000343	Long philtrum
OMIM:258480	INPPL1	3636	HP:0001773	Short foot
OMIM:258480	INPPL1	3636	HP:0000316	Hypertelorism
OMIM:258480	INPPL1	3636	HP:0003175	Hypoplastic ischia
OMIM:258480	INPPL1	3636	HP:0002205	Recurrent respiratory infections
OMIM:258480	INPPL1	3636	HP:0003021	Metaphyseal cupping
OMIM:600274	MAPT	4137	HP:0000751	Personality changes
OMIM:600274	MAPT	4137	HP:0000727	Frontal lobe dementia
OMIM:600274	MAPT	4137	HP:0002145	Frontotemporal dementia
OMIM:600274	MAPT	4137	HP:0002591	Polyphagia
OMIM:600274	MAPT	4137	HP:0000734	Disinhibition
OMIM:600274	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:600274	MAPT	4137	HP:0002476	Primitive reflex
OMIM:600274	MAPT	4137	HP:0007354	Amyotrophic lateral sclerosis
OMIM:600274	MAPT	4137	HP:0001425	Heterogeneous
OMIM:600274	MAPT	4137	HP:0000748	Inappropriate laughter
OMIM:600274	MAPT	4137	HP:0000710	Hyperorality
OMIM:600274	MAPT	4137	HP:0001300	Parkinsonism
OMIM:600274	MAPT	4137	HP:0000741	Apathy
OMIM:600274	MAPT	4137	HP:0000737	Irritability
OMIM:600274	MAPT	4137	HP:0002463	Language impairment
OMIM:600274	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:600274	MAPT	4137	HP:0008768	Inappropriate sexual behavior
OMIM:600274	PSEN1	5663	HP:0000751	Personality changes
OMIM:600274	PSEN1	5663	HP:0000727	Frontal lobe dementia
OMIM:600274	PSEN1	5663	HP:0002145	Frontotemporal dementia
OMIM:600274	PSEN1	5663	HP:0002591	Polyphagia
OMIM:600274	PSEN1	5663	HP:0000734	Disinhibition
OMIM:600274	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:600274	PSEN1	5663	HP:0002476	Primitive reflex
OMIM:600274	PSEN1	5663	HP:0007354	Amyotrophic lateral sclerosis
OMIM:600274	PSEN1	5663	HP:0001425	Heterogeneous
OMIM:600274	PSEN1	5663	HP:0000748	Inappropriate laughter
OMIM:600274	PSEN1	5663	HP:0000710	Hyperorality
OMIM:600274	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:600274	PSEN1	5663	HP:0000741	Apathy
OMIM:600274	PSEN1	5663	HP:0000737	Irritability
OMIM:600274	PSEN1	5663	HP:0002463	Language impairment
OMIM:600274	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:600274	PSEN1	5663	HP:0008768	Inappropriate sexual behavior
ORPHA:95720	SLC26A4	5172	HP:0000821	Hypothyroidism
ORPHA:95720	SLC26A4	5172	HP:0002019	Constipation
ORPHA:95720	SLC26A4	5172	HP:0012378	Fatigue
ORPHA:95720	SLC26A4	5172	HP:0000280	Coarse facial features
ORPHA:95720	SLC26A4	5172	HP:0001252	Muscular hypotonia
ORPHA:95720	SLC26A4	5172	HP:0003270	Abdominal distention
ORPHA:95720	SLC26A4	5172	HP:0000158	Macroglossia
ORPHA:95720	SLC26A4	5172	HP:0001263	Global developmental delay
ORPHA:95720	SLC26A4	5172	HP:0005990	Thyroid hypoplasia
ORPHA:95720	SLC26A4	5172	HP:0000239	Large fontanelles
ORPHA:95720	SLC26A4	5172	HP:0010864	Intellectual disability, severe
ORPHA:95720	SLC26A4	5172	HP:0000952	Jaundice
ORPHA:95720	SLC26A4	5172	HP:0004322	Short stature
ORPHA:95720	TSHR	7253	HP:0000821	Hypothyroidism
ORPHA:95720	TSHR	7253	HP:0002019	Constipation
ORPHA:95720	TSHR	7253	HP:0012378	Fatigue
ORPHA:95720	TSHR	7253	HP:0000280	Coarse facial features
ORPHA:95720	TSHR	7253	HP:0001252	Muscular hypotonia
ORPHA:95720	TSHR	7253	HP:0003270	Abdominal distention
ORPHA:95720	TSHR	7253	HP:0000158	Macroglossia
ORPHA:95720	TSHR	7253	HP:0001263	Global developmental delay
ORPHA:95720	TSHR	7253	HP:0005990	Thyroid hypoplasia
ORPHA:95720	TSHR	7253	HP:0000239	Large fontanelles
ORPHA:95720	TSHR	7253	HP:0010864	Intellectual disability, severe
ORPHA:95720	TSHR	7253	HP:0000952	Jaundice
ORPHA:95720	TSHR	7253	HP:0004322	Short stature
ORPHA:95720	PAX8	7849	HP:0000821	Hypothyroidism
ORPHA:95720	PAX8	7849	HP:0002019	Constipation
ORPHA:95720	PAX8	7849	HP:0012378	Fatigue
ORPHA:95720	PAX8	7849	HP:0000280	Coarse facial features
ORPHA:95720	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHA:95720	PAX8	7849	HP:0003270	Abdominal distention
ORPHA:95720	PAX8	7849	HP:0000158	Macroglossia
ORPHA:95720	PAX8	7849	HP:0001263	Global developmental delay
ORPHA:95720	PAX8	7849	HP:0005990	Thyroid hypoplasia
ORPHA:95720	PAX8	7849	HP:0000239	Large fontanelles
ORPHA:95720	PAX8	7849	HP:0010864	Intellectual disability, severe
ORPHA:95720	PAX8	7849	HP:0000952	Jaundice
ORPHA:95720	PAX8	7849	HP:0004322	Short stature
ORPHA:606	CNBP	7555	HP:0000518	Cataract
ORPHA:606	CNBP	7555	HP:0002486	Myotonia
OMIM:615025	DHTKD1	55526	HP:0000006	Autosomal dominant inheritance
OMIM:615025	DHTKD1	55526	HP:0002355	Difficulty walking
OMIM:615025	DHTKD1	55526	HP:0003202	Skeletal muscle atrophy
ORPHA:1393	SNRPB	6628	HP:0001591	Bell-shaped thorax
ORPHA:1393	SNRPB	6628	HP:0000175	Cleft palate
ORPHA:1393	SNRPB	6628	HP:0000347	Micrognathia
ORPHA:1393	SNRPB	6628	HP:0001249	Intellectual disability
ORPHA:1393	SNRPB	6628	HP:0000162	Glossoptosis
ORPHA:1393	SNRPB	6628	HP:0000405	Conductive hearing impairment
ORPHA:1393	SNRPB	6628	HP:0030282	Posterior rib gap
ORPHA:1393	SNRPB	6628	HP:0002779	Tracheomalacia
ORPHA:1393	SNRPB	6628	HP:0002808	Kyphosis
ORPHA:1393	SNRPB	6628	HP:0011968	Feeding difficulties
ORPHA:1393	SNRPB	6628	HP:0001511	Intrauterine growth retardation
ORPHA:1393	SNRPB	6628	HP:0002643	Neonatal respiratory distress
ORPHA:1393	SNRPB	6628	HP:0004322	Short stature
ORPHA:1393	SNRPB	6628	HP:0000413	Atresia of the external auditory canal
ORPHA:1393	SNRPB	6628	HP:0001522	Death in infancy
OMIM:613193	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:613193	DNAAF1	123872	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAAF1	123872	HP:0012256	Absent outer dynein arms
OMIM:613193	DNAAF1	123872	HP:0012265	Ciliary dyskinesia
OMIM:613193	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:613193	DNAAF1	123872	HP:0012257	Absent inner dynein arms
OMIM:613193	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:613193	DNAAF1	123872	HP:0000789	Infertility
OMIM:613193	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:262400	GH1	2688	HP:0003510	Severe short stature
OMIM:262400	GH1	2688	HP:0000839	Pituitary dwarfism
OMIM:262400	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:262400	GH1	2688	HP:0002715	Abnormality of the immune system
OMIM:262400	GH1	2688	HP:0000271	Abnormality of the face
OMIM:262400	GH1	2688	HP:0001943	Hypoglycemia
OMIM:615399	PIGT	51604	HP:0002014	Diarrhea
OMIM:615399	PIGT	51604	HP:0012378	Fatigue
OMIM:615399	PIGT	51604	HP:0001025	Urticaria
OMIM:615399	PIGT	51604	HP:0002094	Dyspnea
OMIM:615399	PIGT	51604	HP:0002315	Headache
OMIM:615399	PIGT	51604	HP:0000006	Autosomal dominant inheritance
OMIM:615399	PIGT	51604	HP:0002829	Arthralgia
OMIM:615399	PIGT	51604	HP:0004818	Paroxysmal nocturnal hemoglobinuria
OMIM:615399	PIGT	51604	HP:0001428	Somatic mutation
OMIM:615399	PIGT	51604	HP:0002027	Abdominal pain
OMIM:615399	PIGT	51604	HP:0001878	Hemolytic anemia
OMIM:300717	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:300717	FHL1	2273	HP:0003678	Rapidly progressive
OMIM:300717	FHL1	2273	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300717	FHL1	2273	HP:0001284	Areflexia
OMIM:300717	FHL1	2273	HP:0003557	Increased variability in muscle fiber diameter
OMIM:300717	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300717	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300717	FHL1	2273	HP:0001423	X-linked dominant inheritance
OMIM:300717	FHL1	2273	HP:0001371	Flexion contracture
OMIM:616095	SLC16A1	6566	HP:0011968	Feeding difficulties
OMIM:616095	SLC16A1	6566	HP:0000006	Autosomal dominant inheritance
OMIM:616095	SLC16A1	6566	HP:0001249	Intellectual disability
OMIM:616095	SLC16A1	6566	HP:0001993	Ketoacidosis
OMIM:616095	SLC16A1	6566	HP:0012734	Ketotic hypoglycemia
OMIM:616095	SLC16A1	6566	HP:0001263	Global developmental delay
OMIM:616095	SLC16A1	6566	HP:0000007	Autosomal recessive inheritance
OMIM:610978	NKX2-1	7080	HP:0002643	Neonatal respiratory distress
OMIM:610978	NKX2-1	7080	HP:0001270	Motor delay
OMIM:610978	NKX2-1	7080	HP:0001332	Dystonia
OMIM:610978	NKX2-1	7080	HP:0003577	Congenital onset
OMIM:610978	NKX2-1	7080	HP:0001263	Global developmental delay
OMIM:610978	NKX2-1	7080	HP:0001266	Choreoathetosis
OMIM:610978	NKX2-1	7080	HP:0002355	Difficulty walking
OMIM:610978	NKX2-1	7080	HP:0008223	Compensated hypothyroidism
OMIM:610978	NKX2-1	7080	HP:0001629	Ventricular septal defect
OMIM:610978	NKX2-1	7080	HP:0000851	Congenital hypothyroidism
OMIM:610978	NKX2-1	7080	HP:0001290	Generalized hypotonia
OMIM:610978	NKX2-1	7080	HP:0001251	Ataxia
OMIM:610978	NKX2-1	7080	HP:0001260	Dysarthria
OMIM:610978	NKX2-1	7080	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:610978	NKX2-1	7080	HP:0000006	Autosomal dominant inheritance
OMIM:610978	NKX2-1	7080	HP:0002205	Recurrent respiratory infections
OMIM:610978	NKX2-1	7080	HP:0001631	Atrial septal defect
OMIM:610978	NKX2-1	7080	HP:0002098	Respiratory distress
OMIM:614563	DYNC1H1	1778	HP:0001288	Gait disturbance
OMIM:614563	DYNC1H1	1778	HP:0000494	Downslanted palpebral fissures
OMIM:614563	DYNC1H1	1778	HP:0011220	Prominent forehead
OMIM:614563	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614563	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:614563	DYNC1H1	1778	HP:0001357	Plagiocephaly
OMIM:614563	DYNC1H1	1778	HP:0001250	Seizures
OMIM:614563	DYNC1H1	1778	HP:0001252	Muscular hypotonia
OMIM:614563	DYNC1H1	1778	HP:0001265	Hyporeflexia
OMIM:614563	DYNC1H1	1778	HP:0001302	Pachygyria
OMIM:614563	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614563	DYNC1H1	1778	HP:0007359	Focal seizures
OMIM:615434	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:615434	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:615434	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613671	SOBP	55084	HP:0000007	Autosomal recessive inheritance
OMIM:613671	SOBP	55084	HP:0001263	Global developmental delay
OMIM:613671	SOBP	55084	HP:0010864	Intellectual disability, severe
OMIM:613671	SOBP	55084	HP:0000750	Delayed speech and language development
OMIM:613671	SOBP	55084	HP:0000736	Short attention span
OMIM:613671	SOBP	55084	HP:0010807	Open bite
OMIM:613671	SOBP	55084	HP:0002465	Poor speech
OMIM:601071	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:601071	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:601071	OTOF	9381	HP:0004463	Absent brainstem auditory responses
OMIM:601071	OTOF	9381	HP:0008529	Absence of acoustic reflex
OMIM:256730	PPT1	5538	HP:0000648	Optic atrophy
OMIM:256730	PPT1	5538	HP:0001249	Intellectual disability
OMIM:256730	PPT1	5538	HP:0000546	Retinal degeneration
OMIM:256730	PPT1	5538	HP:0000608	Macular degeneration
OMIM:256730	PPT1	5538	HP:0000737	Irritability
OMIM:256730	PPT1	5538	HP:0000618	Blindness
OMIM:256730	PPT1	5538	HP:0001263	Global developmental delay
OMIM:256730	PPT1	5538	HP:0001371	Flexion contracture
OMIM:256730	PPT1	5538	HP:0002371	Loss of speech
OMIM:256730	PPT1	5538	HP:0002353	EEG abnormality
OMIM:256730	PPT1	5538	HP:0005484	Postnatal microcephaly
OMIM:256730	PPT1	5538	HP:0001257	Spasticity
OMIM:256730	PPT1	5538	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:256730	PPT1	5538	HP:0000007	Autosomal recessive inheritance
OMIM:256730	PPT1	5538	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256730	PPT1	5538	HP:0000529	Progressive visual loss
OMIM:256730	PPT1	5538	HP:0000738	Hallucinations
OMIM:256730	PPT1	5538	HP:0001250	Seizures
OMIM:256730	PPT1	5538	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:256730	PPT1	5538	HP:0000550	Undetectable electroretinogram
OMIM:256730	PPT1	5538	HP:0002360	Sleep disturbance
OMIM:256730	PPT1	5538	HP:0000716	Depressivity
OMIM:256730	PPT1	5538	HP:0001336	Myoclonus
OMIM:256730	PPT1	5538	HP:0000253	Progressive microcephaly
OMIM:256730	PPT1	5538	HP:0001251	Ataxia
OMIM:256730	PPT1	5538	HP:0002059	Cerebral atrophy
OMIM:256730	PPT1	5538	HP:0002361	Psychomotor deterioration
OMIM:256730	PPT1	5538	HP:0003674	Onset
OMIM:256730	PPT1	5538	HP:0001290	Generalized hypotonia
OMIM:609968	INSR	3643	HP:0000006	Autosomal dominant inheritance
OMIM:609968	INSR	3643	HP:0002173	Hypoglycemic seizures
OMIM:609968	INSR	3643	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:609968	INSR	3643	HP:0008283	Fasting hyperinsulinemia
OMIM:609968	INSR	3643	HP:0001325	Hypoglycemic coma
OMIM:609968	INSR	3643	HP:0001425	Heterogeneous
OMIM:614576	COG6	57511	HP:0001250	Seizures
OMIM:614576	COG6	57511	HP:0001508	Failure to thrive
OMIM:614576	COG6	57511	HP:0012301	Type II transferrin isoform profile
OMIM:614576	COG6	57511	HP:0000007	Autosomal recessive inheritance
OMIM:614576	COG6	57511	HP:0001522	Death in infancy
OMIM:614576	COG6	57511	HP:0003577	Congenital onset
OMIM:614576	COG6	57511	HP:0000252	Microcephaly
OMIM:614576	COG6	57511	HP:0001263	Global developmental delay
OMIM:614576	COG6	57511	HP:0007185	Loss of consciousness
OMIM:615182	SLC25A1	6576	HP:0000817	Poor eye contact
OMIM:615182	SLC25A1	6576	HP:0011968	Feeding difficulties
OMIM:615182	SLC25A1	6576	HP:0001250	Seizures
OMIM:615182	SLC25A1	6576	HP:0002093	Respiratory insufficiency
OMIM:615182	SLC25A1	6576	HP:0002094	Dyspnea
OMIM:615182	SLC25A1	6576	HP:0000737	Irritability
OMIM:615182	SLC25A1	6576	HP:0001321	Cerebellar hypoplasia
OMIM:615182	SLC25A1	6576	HP:0002119	Ventriculomegaly
OMIM:615182	SLC25A1	6576	HP:0012448	Delayed myelination
OMIM:615182	SLC25A1	6576	HP:0001298	Encephalopathy
OMIM:615182	SLC25A1	6576	HP:0001263	Global developmental delay
OMIM:615182	SLC25A1	6576	HP:0040144	L-2-hydroxyglutaric aciduria
OMIM:615182	SLC25A1	6576	HP:0006829	Severe muscular hypotonia
OMIM:615182	SLC25A1	6576	HP:0000007	Autosomal recessive inheritance
OMIM:615182	SLC25A1	6576	HP:0010307	Stridor
OMIM:615468	MALT1	10892	HP:0002718	Recurrent bacterial infections
OMIM:615468	MALT1	10892	HP:0004429	Recurrent viral infections
OMIM:615468	MALT1	10892	HP:0000007	Autosomal recessive inheritance
OMIM:615468	MALT1	10892	HP:0001510	Growth delay
OMIM:615468	MALT1	10892	HP:0002721	Immunodeficiency
ORPHA:90653	COL2A1	1280	HP:0100734	Abnormality of vertebral epiphysis morphology
ORPHA:90653	COL2A1	1280	HP:0000175	Cleft palate
ORPHA:90653	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
ORPHA:90653	COL2A1	1280	HP:0003196	Short nose
ORPHA:90653	COL2A1	1280	HP:0002829	Arthralgia
ORPHA:90653	COL2A1	1280	HP:0000343	Long philtrum
ORPHA:90653	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHA:90653	COL2A1	1280	HP:0000327	Hypoplasia of the maxilla
ORPHA:90653	COL2A1	1280	HP:0000518	Cataract
ORPHA:90653	COL2A1	1280	HP:0004327	Abnormality of the vitreous humor
ORPHA:90653	COL2A1	1280	HP:0001634	Mitral valve prolapse
ORPHA:90653	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHA:90653	COL2A1	1280	HP:0000541	Retinal detachment
ORPHA:90653	COL2A1	1280	HP:0000520	Proptosis
ORPHA:90653	COL2A1	1280	HP:0005692	Joint hyperflexibility
ORPHA:90653	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:90653	COL2A1	1280	HP:0000545	Myopia
ORPHA:2658	PTDSS1	9791	HP:0001582	Redundant skin
ORPHA:2658	PTDSS1	9791	HP:0000256	Macrocephaly
ORPHA:2658	PTDSS1	9791	HP:0003510	Severe short stature
ORPHA:2658	PTDSS1	9791	HP:0010628	Facial palsy
ORPHA:2658	PTDSS1	9791	HP:0003070	Elbow ankylosis
ORPHA:2658	PTDSS1	9791	HP:0001263	Global developmental delay
ORPHA:2658	PTDSS1	9791	HP:0000047	Hypospadias
ORPHA:2658	PTDSS1	9791	HP:0100541	Femoral hernia
ORPHA:2658	PTDSS1	9791	HP:0007495	Prematurely aged appearance
ORPHA:2658	PTDSS1	9791	HP:0000239	Large fontanelles
ORPHA:2658	PTDSS1	9791	HP:0000944	Abnormality of the metaphysis
ORPHA:2658	PTDSS1	9791	HP:0000028	Cryptorchidism
ORPHA:2658	PTDSS1	9791	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2658	PTDSS1	9791	HP:0000303	Mandibular prognathia
ORPHA:2658	PTDSS1	9791	HP:0002750	Delayed skeletal maturation
ORPHA:2658	PTDSS1	9791	HP:0005692	Joint hyperflexibility
ORPHA:2658	PTDSS1	9791	HP:0011002	Osteopetrosis
ORPHA:2658	PTDSS1	9791	HP:0000154	Wide mouth
ORPHA:2658	PTDSS1	9791	HP:0001328	Specific learning disability
ORPHA:2658	PTDSS1	9791	HP:0002684	Thickened calvaria
ORPHA:2658	PTDSS1	9791	HP:0003103	Abnormal cortical bone morphology
ORPHA:2658	PTDSS1	9791	HP:0004279	Short palm
ORPHA:2658	PTDSS1	9791	HP:0006660	Aplastic clavicles
ORPHA:2658	PTDSS1	9791	HP:0000453	Choanal atresia
ORPHA:2658	PTDSS1	9791	HP:0000039	Epispadias
ORPHA:2658	PTDSS1	9791	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:2658	PTDSS1	9791	HP:0006101	Finger syndactyly
ORPHA:2658	PTDSS1	9791	HP:0001156	Brachydactyly
ORPHA:2658	PTDSS1	9791	HP:0000270	Delayed cranial suture closure
ORPHA:2658	PTDSS1	9791	HP:0001249	Intellectual disability
ORPHA:2658	PTDSS1	9791	HP:0000400	Macrotia
ORPHA:2658	PTDSS1	9791	HP:0000682	Abnormality of dental enamel
ORPHA:2658	PTDSS1	9791	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:2658	PTDSS1	9791	HP:0000337	Broad forehead
ORPHA:2658	PTDSS1	9791	HP:0000023	Inguinal hernia
ORPHA:2658	PTDSS1	9791	HP:0000316	Hypertelorism
ORPHA:2658	PTDSS1	9791	HP:0001163	Abnormality of the metacarpal bones
ORPHA:2658	PTDSS1	9791	HP:0005465	Facial hyperostosis
ORPHA:2658	PTDSS1	9791	HP:0012471	Thick vermilion border
OMIM:185800	NOG	9241	HP:0000405	Conductive hearing impairment
OMIM:185800	NOG	9241	HP:0009702	Carpal synostosis
OMIM:185800	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:185800	NOG	9241	HP:0010047	Short 5th metacarpal
OMIM:185800	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:185800	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:185800	NOG	9241	HP:0006152	Proximal symphalangism of hands
OMIM:614807	CCDC78	124093	HP:0000006	Autosomal dominant inheritance
OMIM:614807	CCDC78	124093	HP:0003326	Myalgia
OMIM:614807	CCDC78	124093	HP:0001290	Generalized hypotonia
OMIM:614807	CCDC78	124093	HP:0100543	Cognitive impairment
OMIM:612001	CHRNA7	1139	HP:0000006	Autosomal dominant inheritance
OMIM:612001	CHRNA7	1139	HP:0001999	Abnormal facial shape
OMIM:612001	CHRNA7	1139	HP:0003812	Phenotypic variability
OMIM:612001	KLF13	51621	HP:0000006	Autosomal dominant inheritance
OMIM:612001	KLF13	51621	HP:0001999	Abnormal facial shape
OMIM:612001	KLF13	51621	HP:0003812	Phenotypic variability
ORPHA:966	ABCC9	10060	HP:0000212	Gingival overgrowth
ORPHA:966	ABCC9	10060	HP:0012471	Thick vermilion border
ORPHA:966	ABCC9	10060	HP:0000414	Bulbous nose
ORPHA:966	ABCC9	10060	HP:0000280	Coarse facial features
ORPHA:966	ABCC9	10060	HP:0002230	Generalized hirsutism
ORPHA:966	ABCC9	10060	HP:0001155	Abnormality of the hand
ORPHA:966	ABCC9	10060	HP:0100540	Palpebral edema
ORPHA:966	ABCC9	10060	HP:0000232	Everted lower lip vermilion
ORPHA:966	ABCC9	10060	HP:0000221	Furrowed tongue
ORPHA:966	ABCC9	10060	HP:0000581	Blepharophimosis
ORPHA:966	ABCC9	10060	HP:0005692	Joint hyperflexibility
OMIM:613949	CD4	920	HP:0002843	Abnormal T cell morphology
OMIM:248190	CLDN19	149461	HP:0002150	Hypercalciuria
OMIM:248190	CLDN19	149461	HP:0012608	Hypermagnesiuria
OMIM:248190	CLDN19	149461	HP:0012622	Chronic kidney disease
OMIM:248190	CLDN19	149461	HP:0000547	Tapetoretinal degeneration
OMIM:248190	CLDN19	149461	HP:0012637	Renal calcium wasting
OMIM:248190	CLDN19	149461	HP:0000787	Nephrolithiasis
OMIM:248190	CLDN19	149461	HP:0000010	Recurrent urinary tract infections
OMIM:248190	CLDN19	149461	HP:0000121	Nephrocalcinosis
OMIM:248190	CLDN19	149461	HP:0000545	Myopia
OMIM:248190	CLDN19	149461	HP:0005567	Renal magnesium wasting
OMIM:248190	CLDN19	149461	HP:0000639	Nystagmus
OMIM:248190	CLDN19	149461	HP:0002917	Hypomagnesemia
OMIM:248190	CLDN19	149461	HP:0000007	Autosomal recessive inheritance
OMIM:248190	CLDN19	149461	HP:0001116	Macular coloboma
OMIM:615190	RTEL1	51750	HP:0004313	Decreased antibody level in blood
OMIM:615190	RTEL1	51750	HP:0001511	Intrauterine growth retardation
OMIM:615190	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:615190	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:615190	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:615190	RTEL1	51750	HP:0001263	Global developmental delay
OMIM:615190	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:615190	RTEL1	51750	HP:0003828	Variable expressivity
OMIM:615190	RTEL1	51750	HP:0000252	Microcephaly
OMIM:615190	RTEL1	51750	HP:0008897	Postnatal growth retardation
OMIM:615190	RTEL1	51750	HP:0001882	Leukopenia
OMIM:268300	ESCO2	157570	HP:0000568	Microphthalmia
OMIM:268300	ESCO2	157570	HP:0030721	Tetraphocomelia
OMIM:268300	ESCO2	157570	HP:0000252	Microcephaly
OMIM:268300	ESCO2	157570	HP:0001156	Brachydactyly
OMIM:268300	ESCO2	157570	HP:0000007	Autosomal recessive inheritance
OMIM:268300	ESCO2	157570	HP:0001561	Polyhydramnios
OMIM:268300	ESCO2	157570	HP:0000204	Cleft upper lip
OMIM:268300	ESCO2	157570	HP:0001180	Hand oligodactyly
OMIM:268300	ESCO2	157570	HP:0000625	Cleft eyelid
OMIM:268300	ESCO2	157570	HP:0000272	Malar flattening
OMIM:268300	ESCO2	157570	HP:0008846	Severe intrauterine growth retardation
OMIM:268300	ESCO2	157570	HP:0008683	Enlarged labia minora
OMIM:268300	ESCO2	157570	HP:0001363	Craniosynostosis
OMIM:268300	ESCO2	157570	HP:0000028	Cryptorchidism
OMIM:268300	ESCO2	157570	HP:0008665	Clitoral hypertrophy
OMIM:268300	ESCO2	157570	HP:0000494	Downslanted palpebral fissures
OMIM:268300	ESCO2	157570	HP:0001629	Ventricular septal defect
OMIM:268300	ESCO2	157570	HP:0000387	Absent earlobe
OMIM:268300	ESCO2	157570	HP:0000085	Horseshoe kidney
OMIM:268300	ESCO2	157570	HP:0000113	Polycystic kidney dysplasia
OMIM:268300	ESCO2	157570	HP:0000047	Hypospadias
OMIM:268300	ESCO2	157570	HP:0000592	Blue sclerae
OMIM:268300	ESCO2	157570	HP:0000040	Long penis
OMIM:268300	ESCO2	157570	HP:0000957	Cafe-au-lait spot
OMIM:268300	ESCO2	157570	HP:0002987	Elbow flexion contracture
OMIM:268300	ESCO2	157570	HP:0000358	Posteriorly rotated ears
OMIM:268300	ESCO2	157570	HP:0001747	Accessory spleen
OMIM:268300	ESCO2	157570	HP:0001249	Intellectual disability
OMIM:268300	ESCO2	157570	HP:0006824	Cranial nerve paralysis
OMIM:268300	ESCO2	157570	HP:0030084	Clinodactyly
OMIM:268300	ESCO2	157570	HP:0007759	Opacification of the corneal stroma
OMIM:268300	ESCO2	157570	HP:0000347	Micrognathia
OMIM:268300	ESCO2	157570	HP:0006380	Knee flexion contracture
OMIM:268300	ESCO2	157570	HP:0000813	Bicornuate uterus
OMIM:268300	ESCO2	157570	HP:0000316	Hypertelorism
OMIM:268300	ESCO2	157570	HP:0001163	Abnormality of the metacarpal bones
OMIM:268300	ESCO2	157570	HP:0000248	Brachycephaly
OMIM:268300	ESCO2	157570	HP:0009933	Narrow naris
OMIM:268300	ESCO2	157570	HP:0007330	Frontal encephalocele
OMIM:268300	ESCO2	157570	HP:0000586	Shallow orbits
OMIM:268300	ESCO2	157570	HP:0001159	Syndactyly
OMIM:268300	ESCO2	157570	HP:0008897	Postnatal growth retardation
OMIM:268300	ESCO2	157570	HP:0007452	Midface capillary hemangioma
OMIM:268300	ESCO2	157570	HP:0000238	Hydrocephalus
OMIM:268300	ESCO2	157570	HP:0003616	Premature separation of centromeric heterochromatin
OMIM:268300	ESCO2	157570	HP:0008070	Sparse hair
OMIM:268300	ESCO2	157570	HP:0001631	Atrial septal defect
OMIM:268300	ESCO2	157570	HP:0000476	Cystic hygroma
OMIM:268300	ESCO2	157570	HP:0000175	Cleft palate
OMIM:268300	ESCO2	157570	HP:0000518	Cataract
OMIM:268300	ESCO2	157570	HP:0001080	Biliary tract abnormality
OMIM:268300	ESCO2	157570	HP:0001643	Patent ductus arteriosus
OMIM:268300	ESCO2	157570	HP:0000520	Proptosis
OMIM:268300	ESCO2	157570	HP:0001239	Wrist flexion contracture
OMIM:268300	ESCO2	157570	HP:0000218	High palate
OMIM:268300	ESCO2	157570	HP:0006466	Ankle contracture
OMIM:268300	ESCO2	157570	HP:0000369	Low-set ears
OMIM:268300	ESCO2	157570	HP:0000431	Wide nasal bridge
OMIM:268300	ESCO2	157570	HP:0009466	Radial deviation of finger
OMIM:268300	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
OMIM:268300	ESCO2	157570	HP:0000470	Short neck
OMIM:268300	ESCO2	157570	HP:0001772	Talipes equinovalgus
OMIM:610251	ALDH2	217	HP:0001033	Facial flushing after alcohol intake
OMIM:610251	ALDH2	217	HP:0000006	Autosomal dominant inheritance
OMIM:610251	ALDH2	217	HP:0003533	Delayed oxidation of acetaldehyde
OMIM:613697	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613697	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613697	PSEN2	5664	HP:0001279	Syncope
OMIM:613697	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:142945	SHH	6469	HP:0000126	Hydronephrosis
OMIM:142945	SHH	6469	HP:0003829	Incomplete penetrance
OMIM:142945	SHH	6469	HP:0012806	Proboscis
OMIM:142945	SHH	6469	HP:0000272	Malar flattening
OMIM:142945	SHH	6469	HP:0011800	Midface retrusion
OMIM:142945	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:142945	SHH	6469	HP:0001360	Holoprosencephaly
OMIM:142945	SHH	6469	HP:0000366	Abnormality of the nose
OMIM:142945	SHH	6469	HP:0000601	Hypotelorism
OMIM:142945	SHH	6469	HP:0009914	Cyclopia
OMIM:112500	IHH	3549	HP:0004209	Clinodactyly of the 5th finger
OMIM:112500	IHH	3549	HP:0004279	Short palm
OMIM:112500	IHH	3549	HP:0001204	Distal symphalangism of hands
OMIM:112500	IHH	3549	HP:0001425	Heterogeneous
OMIM:112500	IHH	3549	HP:0010049	Short metacarpal
OMIM:112500	IHH	3549	HP:0006146	Broad metacarpal epiphyses
OMIM:112500	IHH	3549	HP:0001169	Broad palm
OMIM:112500	IHH	3549	HP:0006213	Thin proximal phalanges with broad epiphyses of the hand
OMIM:112500	IHH	3549	HP:0000006	Autosomal dominant inheritance
OMIM:112500	IHH	3549	HP:0009467	Radial deviation of the 2nd finger
OMIM:112500	IHH	3549	HP:0009462	Radial deviation of the 3rd finger
OMIM:112500	IHH	3549	HP:0006165	Proportionate shortening of all digits
OMIM:112500	IHH	3549	HP:0009638	Short proximal phalanx of thumb
OMIM:112500	IHH	3549	HP:0004322	Short stature
OMIM:112500	IHH	3549	HP:0009279	Radial deviation of the 4th finger
OMIM:112500	IHH	3549	HP:0006236	Slender metacarpals
OMIM:112500	IHH	3549	HP:0001032	Absent distal interphalangeal creases
OMIM:112500	IHH	3549	HP:0009882	Short distal phalanx of finger
OMIM:112500	IHH	3549	HP:0001156	Brachydactyly
OMIM:112500	IHH	3549	HP:0010107	Short proximal phalanx of hallux
OMIM:112500	IHH	3549	HP:0005194	Flattened metatarsal heads
OMIM:208920	APTX	54840	HP:0002066	Gait ataxia
OMIM:208920	APTX	54840	HP:0001251	Ataxia
OMIM:208920	APTX	54840	HP:0100543	Cognitive impairment
OMIM:208920	APTX	54840	HP:0002078	Truncal ataxia
OMIM:208920	APTX	54840	HP:0001761	Pes cavus
OMIM:208920	APTX	54840	HP:0002650	Scoliosis
OMIM:208920	APTX	54840	HP:0001260	Dysarthria
OMIM:208920	APTX	54840	HP:0001337	Tremor
OMIM:208920	APTX	54840	HP:0003621	Juvenile onset
OMIM:208920	APTX	54840	HP:0000764	Peripheral axonal degeneration
OMIM:208920	APTX	54840	HP:0001272	Cerebellar atrophy
OMIM:208920	APTX	54840	HP:0001332	Dystonia
OMIM:208920	APTX	54840	HP:0003073	Hypoalbuminemia
OMIM:208920	APTX	54840	HP:0003124	Hypercholesterolemia
OMIM:208920	APTX	54840	HP:0000726	Dementia
OMIM:208920	APTX	54840	HP:0001265	Hyporeflexia
OMIM:208920	APTX	54840	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:208920	APTX	54840	HP:0003581	Adult onset
OMIM:208920	APTX	54840	HP:0001324	Muscle weakness
OMIM:208920	APTX	54840	HP:0000657	Oculomotor apraxia
OMIM:208920	APTX	54840	HP:0002936	Distal sensory impairment
OMIM:208920	APTX	54840	HP:0002070	Limb ataxia
OMIM:208920	APTX	54840	HP:0000571	Hypometric saccades
OMIM:208920	APTX	54840	HP:0000007	Autosomal recessive inheritance
OMIM:208920	APTX	54840	HP:0001284	Areflexia
OMIM:208920	APTX	54840	HP:0000640	Gaze-evoked nystagmus
OMIM:208920	APTX	54840	HP:0000590	Progressive external ophthalmoplegia
OMIM:208920	APTX	54840	HP:0003693	Distal amyotrophy
OMIM:270685	BSCL2	26580	HP:0001347	Hyperreflexia
OMIM:270685	BSCL2	26580	HP:0003427	Thenar muscle weakness
OMIM:270685	BSCL2	26580	HP:0003392	First dorsal interossei muscle weakness
OMIM:270685	BSCL2	26580	HP:0001258	Spastic paraplegia
OMIM:270685	BSCL2	26580	HP:0003393	Thenar muscle atrophy
OMIM:270685	BSCL2	26580	HP:0003487	Babinski sign
OMIM:270685	BSCL2	26580	HP:0002064	Spastic gait
OMIM:270685	BSCL2	26580	HP:0003677	Slow progression
OMIM:270685	BSCL2	26580	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270685	BSCL2	26580	HP:0000006	Autosomal dominant inheritance
OMIM:270685	BSCL2	26580	HP:0002061	Lower limb spasticity
OMIM:270685	BSCL2	26580	HP:0001761	Pes cavus
OMIM:270685	BSCL2	26580	HP:0003426	First dorsal interossei muscle atrophy
OMIM:270685	BSCL2	26580	HP:0007340	Lower limb muscle weakness
ORPHA:79312	MUT	4594	HP:0001263	Global developmental delay
ORPHA:79312	MUT	4594	HP:0001744	Splenomegaly
ORPHA:79312	MUT	4594	HP:0001254	Lethargy
ORPHA:79312	MUT	4594	HP:0001252	Muscular hypotonia
ORPHA:79312	MUT	4594	HP:0001987	Hyperammonemia
ORPHA:79312	MUT	4594	HP:0002098	Respiratory distress
ORPHA:79312	MUT	4594	HP:0001332	Dystonia
ORPHA:79312	MUT	4594	HP:0001259	Coma
ORPHA:79312	MUT	4594	HP:0001260	Dysarthria
ORPHA:79312	MUT	4594	HP:0002017	Nausea and vomiting
ORPHA:79312	MUT	4594	HP:0002039	Anorexia
ORPHA:79312	MUT	4594	HP:0001508	Failure to thrive
ORPHA:79312	MUT	4594	HP:0001249	Intellectual disability
ORPHA:79312	MUT	4594	HP:0011968	Feeding difficulties
ORPHA:79312	MUT	4594	HP:0001944	Dehydration
ORPHA:79312	MUT	4594	HP:0002721	Immunodeficiency
OMIM:306400	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:306400	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	CYBB	1536	HP:0001744	Splenomegaly
OMIM:306400	CYBB	1536	HP:0100523	Liver abscess
OMIM:306400	CYBB	1536	HP:0002955	Granulomatosis
OMIM:306400	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:306400	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:306400	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:306400	CYBB	1536	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	CYBB	1536	HP:0003621	Juvenile onset
OMIM:306400	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:306400	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	CYBB	1536	HP:0100658	Cellulitis
OMIM:306400	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	CYBB	1536	HP:0007417	Discoid lupus rash
OMIM:306400	CYBB	1536	HP:0005224	Rectal abscess
OMIM:306400	CYBB	1536	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:306400	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:306400	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	CYBB	1536	HP:0002754	Osteomyelitis
OMIM:306400	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium reduction test
OMIM:306400	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:603829	SCN5A	6331	HP:0001663	Ventricular fibrillation
ORPHA:1147	TNNI2	7136	HP:0003049	Ulnar deviation of the wrist
ORPHA:1147	TNNI2	7136	HP:0001181	Adducted thumb
ORPHA:1147	TNNI2	7136	HP:0008368	Tarsal synostosis
ORPHA:1147	TNNI2	7136	HP:0000218	High palate
ORPHA:1147	TNNI2	7136	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1147	TNNI2	7136	HP:0000275	Narrow face
ORPHA:1147	TNNI2	7136	HP:0000431	Wide nasal bridge
ORPHA:1147	TNNI2	7136	HP:0002650	Scoliosis
ORPHA:1147	TNNI2	7136	HP:0000465	Webbed neck
ORPHA:1147	TNNI2	7136	HP:0000470	Short neck
ORPHA:1147	TNNI2	7136	HP:0100830	Round ear
ORPHA:1147	TNNI2	7136	HP:0003422	Vertebral segmentation defect
ORPHA:1147	TNNI2	7136	HP:0010557	Overlapping fingers
ORPHA:1147	TNNI2	7136	HP:0003272	Abnormality of the hip bone
ORPHA:1147	TNNI2	7136	HP:0004322	Short stature
ORPHA:1147	TNNI2	7136	HP:0000347	Micrognathia
ORPHA:1147	TNNI2	7136	HP:0001387	Joint stiffness
ORPHA:1147	TNNI2	7136	HP:0009465	Ulnar deviation of finger
ORPHA:1147	TNNI2	7136	HP:0000411	Protruding ear
ORPHA:1147	TNNI2	7136	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1147	TPM2	7169	HP:0003049	Ulnar deviation of the wrist
ORPHA:1147	TPM2	7169	HP:0001181	Adducted thumb
ORPHA:1147	TPM2	7169	HP:0008368	Tarsal synostosis
ORPHA:1147	TPM2	7169	HP:0000218	High palate
ORPHA:1147	TPM2	7169	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1147	TPM2	7169	HP:0000275	Narrow face
ORPHA:1147	TPM2	7169	HP:0000431	Wide nasal bridge
ORPHA:1147	TPM2	7169	HP:0002650	Scoliosis
ORPHA:1147	TPM2	7169	HP:0000465	Webbed neck
ORPHA:1147	TPM2	7169	HP:0000470	Short neck
ORPHA:1147	TPM2	7169	HP:0100830	Round ear
ORPHA:1147	TPM2	7169	HP:0003422	Vertebral segmentation defect
ORPHA:1147	TPM2	7169	HP:0010557	Overlapping fingers
ORPHA:1147	TPM2	7169	HP:0003272	Abnormality of the hip bone
ORPHA:1147	TPM2	7169	HP:0004322	Short stature
ORPHA:1147	TPM2	7169	HP:0000347	Micrognathia
ORPHA:1147	TPM2	7169	HP:0001387	Joint stiffness
ORPHA:1147	TPM2	7169	HP:0009465	Ulnar deviation of finger
ORPHA:1147	TPM2	7169	HP:0000411	Protruding ear
ORPHA:1147	TPM2	7169	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1147	NALCN	259232	HP:0003049	Ulnar deviation of the wrist
ORPHA:1147	NALCN	259232	HP:0001181	Adducted thumb
ORPHA:1147	NALCN	259232	HP:0008368	Tarsal synostosis
ORPHA:1147	NALCN	259232	HP:0000218	High palate
ORPHA:1147	NALCN	259232	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1147	NALCN	259232	HP:0000275	Narrow face
ORPHA:1147	NALCN	259232	HP:0000431	Wide nasal bridge
ORPHA:1147	NALCN	259232	HP:0002650	Scoliosis
ORPHA:1147	NALCN	259232	HP:0000465	Webbed neck
ORPHA:1147	NALCN	259232	HP:0000470	Short neck
ORPHA:1147	NALCN	259232	HP:0100830	Round ear
ORPHA:1147	NALCN	259232	HP:0003422	Vertebral segmentation defect
ORPHA:1147	NALCN	259232	HP:0010557	Overlapping fingers
ORPHA:1147	NALCN	259232	HP:0003272	Abnormality of the hip bone
ORPHA:1147	NALCN	259232	HP:0004322	Short stature
ORPHA:1147	NALCN	259232	HP:0000347	Micrognathia
ORPHA:1147	NALCN	259232	HP:0001387	Joint stiffness
ORPHA:1147	NALCN	259232	HP:0009465	Ulnar deviation of finger
ORPHA:1147	NALCN	259232	HP:0000411	Protruding ear
ORPHA:1147	NALCN	259232	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1147	TNNT3	7140	HP:0003049	Ulnar deviation of the wrist
ORPHA:1147	TNNT3	7140	HP:0001181	Adducted thumb
ORPHA:1147	TNNT3	7140	HP:0008368	Tarsal synostosis
ORPHA:1147	TNNT3	7140	HP:0000218	High palate
ORPHA:1147	TNNT3	7140	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1147	TNNT3	7140	HP:0000275	Narrow face
ORPHA:1147	TNNT3	7140	HP:0000431	Wide nasal bridge
ORPHA:1147	TNNT3	7140	HP:0002650	Scoliosis
ORPHA:1147	TNNT3	7140	HP:0000465	Webbed neck
ORPHA:1147	TNNT3	7140	HP:0000470	Short neck
ORPHA:1147	TNNT3	7140	HP:0100830	Round ear
ORPHA:1147	TNNT3	7140	HP:0003422	Vertebral segmentation defect
ORPHA:1147	TNNT3	7140	HP:0010557	Overlapping fingers
ORPHA:1147	TNNT3	7140	HP:0003272	Abnormality of the hip bone
ORPHA:1147	TNNT3	7140	HP:0004322	Short stature
ORPHA:1147	TNNT3	7140	HP:0000347	Micrognathia
ORPHA:1147	TNNT3	7140	HP:0001387	Joint stiffness
ORPHA:1147	TNNT3	7140	HP:0009465	Ulnar deviation of finger
ORPHA:1147	TNNT3	7140	HP:0000411	Protruding ear
ORPHA:1147	TNNT3	7140	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1147	MYH3	4621	HP:0003049	Ulnar deviation of the wrist
ORPHA:1147	MYH3	4621	HP:0001181	Adducted thumb
ORPHA:1147	MYH3	4621	HP:0008368	Tarsal synostosis
ORPHA:1147	MYH3	4621	HP:0000218	High palate
ORPHA:1147	MYH3	4621	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1147	MYH3	4621	HP:0000275	Narrow face
ORPHA:1147	MYH3	4621	HP:0000431	Wide nasal bridge
ORPHA:1147	MYH3	4621	HP:0002650	Scoliosis
ORPHA:1147	MYH3	4621	HP:0000465	Webbed neck
ORPHA:1147	MYH3	4621	HP:0000470	Short neck
ORPHA:1147	MYH3	4621	HP:0100830	Round ear
ORPHA:1147	MYH3	4621	HP:0003422	Vertebral segmentation defect
ORPHA:1147	MYH3	4621	HP:0010557	Overlapping fingers
ORPHA:1147	MYH3	4621	HP:0003272	Abnormality of the hip bone
ORPHA:1147	MYH3	4621	HP:0004322	Short stature
ORPHA:1147	MYH3	4621	HP:0000347	Micrognathia
ORPHA:1147	MYH3	4621	HP:0001387	Joint stiffness
ORPHA:1147	MYH3	4621	HP:0009465	Ulnar deviation of finger
ORPHA:1147	MYH3	4621	HP:0000411	Protruding ear
ORPHA:1147	MYH3	4621	HP:0007598	Bilateral single transverse palmar creases
ORPHA:419	PRODH	5625	HP:0000112	Nephropathy
ORPHA:419	PRODH	5625	HP:0000093	Proteinuria
ORPHA:419	PRODH	5625	HP:0008358	Hyperprolinemia
ORPHA:419	PRODH	5625	HP:0003137	Prolinuria
OMIM:613684	EP300	2033	HP:0001263	Global developmental delay
OMIM:613684	EP300	2033	HP:0000278	Retrognathia
OMIM:613684	EP300	2033	HP:0000347	Micrognathia
OMIM:613684	EP300	2033	HP:0000252	Microcephaly
OMIM:613684	EP300	2033	HP:0000670	Carious teeth
OMIM:613684	EP300	2033	HP:0000750	Delayed speech and language development
OMIM:613684	EP300	2033	HP:0000218	High palate
OMIM:613684	EP300	2033	HP:0000006	Autosomal dominant inheritance
OMIM:613684	EP300	2033	HP:0002194	Delayed gross motor development
OMIM:613684	EP300	2033	HP:0000448	Prominent nose
OMIM:613684	EP300	2033	HP:0000527	Long eyelashes
OMIM:613684	EP300	2033	HP:0011304	Broad thumb
OMIM:613684	EP300	2033	HP:0000189	Narrow palate
OMIM:613684	EP300	2033	HP:0000444	Convex nasal ridge
OMIM:613684	EP300	2033	HP:0010055	Broad hallux
OMIM:613684	EP300	2033	HP:0001256	Intellectual disability, mild
OMIM:613684	EP300	2033	HP:0000689	Dental malocclusion
OMIM:613684	EP300	2033	HP:0003745	Sporadic
OMIM:613684	EP300	2033	HP:0011094	Overbite
OMIM:613684	EP300	2033	HP:0008523	Posterior helix pit
OMIM:613684	EP300	2033	HP:0003577	Congenital onset
OMIM:193520	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:193520	NF1	4763	HP:0001626	Abnormality of the cardiovascular system
OMIM:193520	NF1	4763	HP:0004322	Short stature
OMIM:193520	NF1	4763	HP:0004482	Relative macrocephaly
OMIM:193520	NF1	4763	HP:0009737	Lisch nodules
OMIM:193520	NF1	4763	HP:0007565	Multiple cafe-au-lait spots
OMIM:193520	NF1	4763	HP:0000997	Axillary freckling
OMIM:193520	NF1	4763	HP:0001067	Neurofibromas
OMIM:261630	QDPR	5860	HP:0002514	Cerebral calcification
OMIM:261630	QDPR	5860	HP:0001252	Muscular hypotonia
OMIM:261630	QDPR	5860	HP:0001276	Hypertonia
OMIM:261630	QDPR	5860	HP:0001250	Seizures
OMIM:261630	QDPR	5860	HP:0004923	Hyperphenylalaninemia
OMIM:261630	QDPR	5860	HP:0000007	Autosomal recessive inheritance
OMIM:261630	QDPR	5860	HP:0003593	Infantile onset
OMIM:261630	QDPR	5860	HP:0003828	Variable expressivity
OMIM:261630	QDPR	5860	HP:0001249	Intellectual disability
OMIM:261630	QDPR	5860	HP:0002344	Progressive neurologic deterioration
OMIM:261630	QDPR	5860	HP:0001337	Tremor
OMIM:261630	QDPR	5860	HP:0001263	Global developmental delay
OMIM:261630	QDPR	5860	HP:0000737	Irritability
OMIM:261630	QDPR	5860	HP:0002015	Dysphagia
OMIM:261630	QDPR	5860	HP:0000252	Microcephaly
OMIM:261630	QDPR	5860	HP:0001266	Choreoathetosis
OMIM:261630	QDPR	5860	HP:0001332	Dystonia
OMIM:261630	QDPR	5860	HP:0001954	Episodic fever
OMIM:261630	QDPR	5860	HP:0001336	Myoclonus
OMIM:261630	QDPR	5860	HP:0003781	Excessive salivation
OMIM:300908	G6PD	2539	HP:0004814	Fava bean-induced hemolytic anemia
OMIM:300908	G6PD	2539	HP:0001419	X-linked recessive inheritance
OMIM:300908	G6PD	2539	HP:0001923	Reticulocytosis
OMIM:300908	G6PD	2539	HP:0006579	Prolonged neonatal jaundice
OMIM:300908	G6PD	2539	HP:0008282	Unconjugated hyperbilirubinemia
OMIM:176920	AKT1	207	HP:0003676	Progressive
OMIM:176920	AKT1	207	HP:0003745	Sporadic
OMIM:176920	AKT1	207	HP:0012032	Lipoma
OMIM:176920	AKT1	207	HP:0001528	Hemihypertrophy
OMIM:176920	AKT1	207	HP:0100764	Lymphangioma
OMIM:176920	AKT1	207	HP:0007403	Hypertrophy of skin of soles
OMIM:176920	AKT1	207	HP:0010816	Epidermal nevus
OMIM:176920	AKT1	207	HP:0001140	Epibulbar dermoid
OMIM:176920	AKT1	207	HP:0002751	Kyphoscoliosis
OMIM:176920	AKT1	207	HP:0000268	Dolichocephaly
OMIM:176920	AKT1	207	HP:0000276	Long face
OMIM:176920	AKT1	207	HP:0002342	Intellectual disability, moderate
OMIM:176920	AKT1	207	HP:0025092	Epidermal acanthosis
OMIM:176920	AKT1	207	HP:0000256	Macrocephaly
OMIM:176920	AKT1	207	HP:0003416	Spinal canal stenosis
OMIM:176920	AKT1	207	HP:0002176	Spinal cord compression
OMIM:176920	AKT1	207	HP:0000508	Ptosis
OMIM:176920	AKT1	207	HP:0000194	Open mouth
OMIM:176920	AKT1	207	HP:0003593	Infantile onset
OMIM:176920	AKT1	207	HP:0000494	Downslanted palpebral fissures
OMIM:176920	AKT1	207	HP:0001428	Somatic mutation
OMIM:176920	AKT1	207	HP:0004490	Calvarial hyperostosis
OMIM:176920	AKT1	207	HP:0001744	Splenomegaly
OMIM:176920	AKT1	207	HP:0001012	Multiple lipomas
OMIM:176920	AKT1	207	HP:0000962	Hyperkeratosis
OMIM:176920	AKT1	207	HP:0007483	Depigmentation/hyperpigmentation of skin
OMIM:176920	AKT1	207	HP:0005280	Depressed nasal bridge
OMIM:176920	AKT1	207	HP:0001028	Hemangioma
OMIM:176920	AKT1	207	HP:0004472	Mandibular hyperostosis
OMIM:176920	AKT1	207	HP:0002753	Thin bony cortex
OMIM:176920	AKT1	207	HP:0002625	Deep venous thrombosis
OMIM:176920	AKT1	207	HP:0005465	Facial hyperostosis
OMIM:176920	AKT1	207	HP:0012721	Venous malformation
OMIM:617388	NLRP1	22861	HP:0100646	Thyroiditis
OMIM:617388	NLRP1	22861	HP:0000007	Autosomal recessive inheritance
OMIM:617388	NLRP1	22861	HP:0011859	Punctate keratitis
OMIM:617388	NLRP1	22861	HP:0001890	Autoimmune hemolytic anemia
OMIM:617388	NLRP1	22861	HP:0000006	Autosomal dominant inheritance
OMIM:617388	NLRP1	22861	HP:0000554	Uveitis
OMIM:617388	NLRP1	22861	HP:0000958	Dry skin
OMIM:617388	NLRP1	22861	HP:0000962	Hyperkeratosis
OMIM:617388	NLRP1	22861	HP:0003261	Increased IgA level
OMIM:617388	NLRP1	22861	HP:0003493	Antinuclear antibody positivity
OMIM:617388	NLRP1	22861	HP:0001744	Splenomegaly
OMIM:617388	NLRP1	22861	HP:0001508	Failure to thrive
OMIM:617388	NLRP1	22861	HP:0000613	Photophobia
OMIM:617388	NLRP1	22861	HP:0011496	Corneal neovascularization
OMIM:617388	NLRP1	22861	HP:0001097	Keratoconjunctivitis sicca
OMIM:617388	NLRP1	22861	HP:0001510	Growth delay
OMIM:617388	NLRP1	22861	HP:0005764	Polyarticular arthritis
OMIM:617388	NLRP1	22861	HP:0025092	Epidermal acanthosis
OMIM:604169	DTNA	1837	HP:0001629	Ventricular septal defect
OMIM:604169	DTNA	1837	HP:0001643	Patent ductus arteriosus
OMIM:604169	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:604169	DTNA	1837	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	DTNA	1837	HP:0030682	Left ventricular noncompaction
OMIM:604169	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:604169	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:604169	DTNA	1837	HP:0001645	Sudden cardiac death
OMIM:604169	DTNA	1837	HP:0001653	Mitral regurgitation
OMIM:604169	DTNA	1837	HP:0005110	Atrial fibrillation
OMIM:604169	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:604169	DTNA	1837	HP:0004383	Hypoplastic left heart
ORPHA:2850	AHSG	197	HP:0000365	Hearing impairment
ORPHA:2850	AHSG	197	HP:0000252	Microcephaly
ORPHA:2850	AHSG	197	HP:0000613	Photophobia
ORPHA:2850	AHSG	197	HP:0002209	Sparse scalp hair
ORPHA:2850	AHSG	197	HP:0004322	Short stature
ORPHA:2850	AHSG	197	HP:0001249	Intellectual disability
ORPHA:2850	AHSG	197	HP:0002353	EEG abnormality
ORPHA:2850	AHSG	197	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:2850	AHSG	197	HP:0008064	Ichthyosis
ORPHA:2850	AHSG	197	HP:0200012	Short corpus callosum
ORPHA:2850	AHSG	197	HP:0002750	Delayed skeletal maturation
ORPHA:2850	AHSG	197	HP:0001171	Split hand
ORPHA:2850	AHSG	197	HP:0001252	Muscular hypotonia
ORPHA:2850	AHSG	197	HP:0001250	Seizures
ORPHA:2850	AHSG	197	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:2850	AHSG	197	HP:0001596	Alopecia
ORPHA:2850	AHSG	197	HP:0001156	Brachydactyly
ORPHA:2850	AHSG	197	HP:0002231	Sparse body hair
ORPHA:2850	ITGB6	3694	HP:0000365	Hearing impairment
ORPHA:2850	ITGB6	3694	HP:0000252	Microcephaly
ORPHA:2850	ITGB6	3694	HP:0000613	Photophobia
ORPHA:2850	ITGB6	3694	HP:0002209	Sparse scalp hair
ORPHA:2850	ITGB6	3694	HP:0004322	Short stature
ORPHA:2850	ITGB6	3694	HP:0001249	Intellectual disability
ORPHA:2850	ITGB6	3694	HP:0002353	EEG abnormality
ORPHA:2850	ITGB6	3694	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:2850	ITGB6	3694	HP:0008064	Ichthyosis
ORPHA:2850	ITGB6	3694	HP:0200012	Short corpus callosum
ORPHA:2850	ITGB6	3694	HP:0002750	Delayed skeletal maturation
ORPHA:2850	ITGB6	3694	HP:0001171	Split hand
ORPHA:2850	ITGB6	3694	HP:0001252	Muscular hypotonia
ORPHA:2850	ITGB6	3694	HP:0001250	Seizures
ORPHA:2850	ITGB6	3694	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:2850	ITGB6	3694	HP:0001596	Alopecia
ORPHA:2850	ITGB6	3694	HP:0001156	Brachydactyly
ORPHA:2850	ITGB6	3694	HP:0002231	Sparse body hair
OMIM:268000	AIPL1	23746	HP:0001133	Constriction of peripheral visual field
OMIM:268000	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:268000	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:268000	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ARL6	84100	HP:0000662	Nyctalopia
OMIM:268000	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:268000	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:268000	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:268000	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:268000	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:268000	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:268000	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:268000	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:268000	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:268000	LRAT	9227	HP:0000662	Nyctalopia
OMIM:268000	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:268000	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:268000	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:268000	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RBP3	5949	HP:0000662	Nyctalopia
OMIM:268000	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:268000	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CRX	1406	HP:0000662	Nyctalopia
OMIM:268000	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:268000	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ROM1	6094	HP:0000662	Nyctalopia
OMIM:268000	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:610829	GLI2	2736	HP:0000272	Malar flattening
OMIM:610829	GLI2	2736	HP:0006315	Single median maxillary incisor
OMIM:610829	GLI2	2736	HP:0006485	Agenesis of incisor
OMIM:610829	GLI2	2736	HP:0003745	Sporadic
OMIM:610829	GLI2	2736	HP:0005280	Depressed nasal bridge
OMIM:610829	GLI2	2736	HP:0010626	Anterior pituitary agenesis
OMIM:610829	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:610829	GLI2	2736	HP:0003829	Incomplete penetrance
OMIM:610829	GLI2	2736	HP:0001250	Seizures
OMIM:610829	GLI2	2736	HP:0001162	Postaxial hand polydactyly
OMIM:610829	GLI2	2736	HP:0000568	Microphthalmia
OMIM:610829	GLI2	2736	HP:0010650	Hypoplasia of the premaxilla
OMIM:610829	GLI2	2736	HP:0011272	Underdeveloped tragus
OMIM:610829	GLI2	2736	HP:0009932	Single naris
OMIM:610829	GLI2	2736	HP:0011800	Midface retrusion
OMIM:610829	GLI2	2736	HP:0000238	Hydrocephalus
OMIM:610829	GLI2	2736	HP:0000824	Growth hormone deficiency
OMIM:610829	GLI2	2736	HP:0001360	Holoprosencephaly
OMIM:610829	GLI2	2736	HP:0000054	Micropenis
OMIM:610829	GLI2	2736	HP:0000252	Microcephaly
OMIM:610829	GLI2	2736	HP:0000609	Optic nerve hypoplasia
OMIM:610829	GLI2	2736	HP:0002536	Abnormal cortical gyration
OMIM:610829	GLI2	2736	HP:0003828	Variable expressivity
OMIM:610829	GLI2	2736	HP:0000028	Cryptorchidism
OMIM:610829	GLI2	2736	HP:0000395	Prominent antihelix
OMIM:610829	GLI2	2736	HP:0000528	Anophthalmia
OMIM:610829	GLI2	2736	HP:0010627	Anterior pituitary hypoplasia
OMIM:610829	GLI2	2736	HP:0000400	Macrotia
OMIM:610829	GLI2	2736	HP:0000601	Hypotelorism
OMIM:610829	GLI2	2736	HP:0000689	Dental malocclusion
OMIM:610829	GLI2	2736	HP:0001338	Partial agenesis of the corpus callosum
OMIM:610829	GLI2	2736	HP:0000871	Panhypopituitarism
OMIM:610829	GLI2	2736	HP:0001263	Global developmental delay
OMIM:610829	GLI2	2736	HP:0000327	Hypoplasia of the maxilla
OMIM:610829	GLI2	2736	HP:0000322	Short philtrum
OMIM:610829	GLI2	2736	HP:0010290	Short hard palate
OMIM:610829	GLI2	2736	HP:0002744	Bilateral cleft lip and palate
OMIM:162830	CSF3R	1441	HP:0002684	Thickened calvaria
OMIM:162830	CSF3R	1441	HP:0002863	Myelodysplasia
OMIM:162830	CSF3R	1441	HP:0000006	Autosomal dominant inheritance
OMIM:162830	CSF3R	1441	HP:0001433	Hepatosplenomegaly
OMIM:162830	CSF3R	1441	HP:0008318	Elevated leukocyte alkaline phosphatase
OMIM:162830	CSF3R	1441	HP:0011897	Neutrophilia
OMIM:614842	KISS1	3814	HP:0000013	Hypoplasia of the uterus
OMIM:614842	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	KISS1	3814	HP:0002750	Delayed skeletal maturation
OMIM:614842	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:607706	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607706	GDAP1	54332	HP:0003623	Neonatal onset
OMIM:607706	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:607706	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:607706	GDAP1	54332	HP:0001171	Split hand
OMIM:607706	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:607706	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:607706	GDAP1	54332	HP:0001761	Pes cavus
OMIM:607706	GDAP1	54332	HP:0001371	Flexion contracture
OMIM:607706	GDAP1	54332	HP:0008443	Spinal deformities
OMIM:607706	GDAP1	54332	HP:0001284	Areflexia
OMIM:607706	GDAP1	54332	HP:0001604	Vocal cord paresis
OMIM:607706	GDAP1	54332	HP:0003378	Axonal degeneration/regeneration
OMIM:607706	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:193220	BEST1	7439	HP:0000639	Nystagmus
OMIM:193220	BEST1	7439	HP:0007985	Retinal arteriolar occlusion
OMIM:193220	BEST1	7439	HP:0000662	Nyctalopia
OMIM:193220	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:193220	BEST1	7439	HP:0007661	Abnormality of chorioretinal pigmentation
OMIM:193220	BEST1	7439	HP:0000482	Microcornea
OMIM:193220	BEST1	7439	HP:0000541	Retinal detachment
OMIM:193220	BEST1	7439	HP:0007902	Vitreous hemorrhage
OMIM:193220	BEST1	7439	HP:0000486	Strabismus
OMIM:193220	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:193220	BEST1	7439	HP:0000501	Glaucoma
OMIM:193220	BEST1	7439	HP:0008043	Retinal arteriolar constriction
OMIM:193220	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:193220	BEST1	7439	HP:0010693	Pulverulent cataract
OMIM:163000	GNAQ	2776	HP:0000006	Autosomal dominant inheritance
OMIM:163000	GNAQ	2776	HP:0001052	Nevus flammeus
OMIM:609260	MFN2	9927	HP:0003384	Peripheral axonal atrophy
OMIM:609260	MFN2	9927	HP:0003383	Onion bulb formation
OMIM:609260	MFN2	9927	HP:0003487	Babinski sign
OMIM:609260	MFN2	9927	HP:0001371	Flexion contracture
OMIM:609260	MFN2	9927	HP:0000007	Autosomal recessive inheritance
OMIM:609260	MFN2	9927	HP:0003431	Decreased motor nerve conduction velocity
OMIM:609260	MFN2	9927	HP:0001284	Areflexia
OMIM:609260	MFN2	9927	HP:0002460	Distal muscle weakness
OMIM:609260	MFN2	9927	HP:0001761	Pes cavus
OMIM:609260	MFN2	9927	HP:0003828	Variable expressivity
OMIM:609260	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:609260	MFN2	9927	HP:0003378	Axonal degeneration/regeneration
OMIM:609260	MFN2	9927	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:609260	MFN2	9927	HP:0012531	Pain
OMIM:609260	MFN2	9927	HP:0003376	Steppage gait
OMIM:609260	MFN2	9927	HP:0003829	Incomplete penetrance
OMIM:609260	MFN2	9927	HP:0000006	Autosomal dominant inheritance
OMIM:609260	MFN2	9927	HP:0003677	Slow progression
OMIM:609260	MFN2	9927	HP:0001765	Hammertoe
OMIM:609260	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:609260	MFN2	9927	HP:0009027	Foot dorsiflexor weakness
OMIM:609260	MFN2	9927	HP:0002650	Scoliosis
OMIM:609260	MFN2	9927	HP:0003693	Distal amyotrophy
OMIM:613206	GJC2	57165	HP:0000007	Autosomal recessive inheritance
OMIM:613206	GJC2	57165	HP:0002019	Constipation
OMIM:613206	GJC2	57165	HP:0006986	Upper limb spasticity
OMIM:613206	GJC2	57165	HP:0000514	Slow saccadic eye movements
OMIM:613206	GJC2	57165	HP:0002650	Scoliosis
OMIM:613206	GJC2	57165	HP:0001250	Seizures
OMIM:613206	GJC2	57165	HP:0002936	Distal sensory impairment
OMIM:613206	GJC2	57165	HP:0000020	Urinary incontinence
OMIM:613206	GJC2	57165	HP:0001310	Dysmetria
OMIM:613206	GJC2	57165	HP:0000407	Sensorineural hearing impairment
OMIM:613206	GJC2	57165	HP:0001761	Pes cavus
OMIM:613206	GJC2	57165	HP:0001260	Dysarthria
OMIM:613206	GJC2	57165	HP:0100543	Cognitive impairment
OMIM:613206	GJC2	57165	HP:0001258	Spastic paraplegia
OMIM:613206	GJC2	57165	HP:0002080	Intention tremor
OMIM:613206	GJC2	57165	HP:0003487	Babinski sign
OMIM:613206	GJC2	57165	HP:0002064	Spastic gait
OMIM:613206	GJC2	57165	HP:0002061	Lower limb spasticity
OMIM:613206	GJC2	57165	HP:0001347	Hyperreflexia
OMIM:266120	NT5C3A	51251	HP:0001878	Hemolytic anemia
OMIM:266120	NT5C3A	51251	HP:0003641	Hemoglobinuria
OMIM:266120	NT5C3A	51251	HP:0000007	Autosomal recessive inheritance
OMIM:615877	MAB21L2	10586	HP:0009918	Ectopia pupillae
OMIM:615877	MAB21L2	10586	HP:0000486	Strabismus
OMIM:615877	MAB21L2	10586	HP:0000007	Autosomal recessive inheritance
OMIM:615877	MAB21L2	10586	HP:0000527	Long eyelashes
OMIM:615877	MAB21L2	10586	HP:0000629	Periorbital fullness
OMIM:615877	MAB21L2	10586	HP:0000518	Cataract
OMIM:615877	MAB21L2	10586	HP:0000568	Microphthalmia
OMIM:615877	MAB21L2	10586	HP:0000589	Coloboma
OMIM:615877	MAB21L2	10586	HP:0011220	Prominent forehead
OMIM:615877	MAB21L2	10586	HP:0000006	Autosomal dominant inheritance
OMIM:615877	MAB21L2	10586	HP:0000286	Epicanthus
OMIM:615877	MAB21L2	10586	HP:0000639	Nystagmus
ORPHA:2138	SRY	6736	HP:0000130	Abnormality of the uterus
ORPHA:2138	SRY	6736	HP:0012856	Abnormal scrotal rugation
ORPHA:2138	SRY	6736	HP:0000028	Cryptorchidism
ORPHA:2138	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:2138	SRY	6736	HP:0008736	Hypoplasia of penis
ORPHA:2138	SRY	6736	HP:0000022	Abnormality of male internal genitalia
ORPHA:2138	SRY	6736	HP:0010459	True hermaphroditism
ORPHA:2138	SRY	6736	HP:0000046	Scrotal hypoplasia
ORPHA:2138	SRY	6736	HP:0000047	Hypospadias
ORPHA:2138	SRY	6736	HP:0000144	Decreased fertility
ORPHA:2138	SRY	6736	HP:0000048	Bifid scrotum
ORPHA:2138	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:2138	NR5A1	2516	HP:0000130	Abnormality of the uterus
ORPHA:2138	NR5A1	2516	HP:0012856	Abnormal scrotal rugation
ORPHA:2138	NR5A1	2516	HP:0000028	Cryptorchidism
ORPHA:2138	NR5A1	2516	HP:0000147	Polycystic ovaries
ORPHA:2138	NR5A1	2516	HP:0008736	Hypoplasia of penis
ORPHA:2138	NR5A1	2516	HP:0000022	Abnormality of male internal genitalia
ORPHA:2138	NR5A1	2516	HP:0010459	True hermaphroditism
ORPHA:2138	NR5A1	2516	HP:0000046	Scrotal hypoplasia
ORPHA:2138	NR5A1	2516	HP:0000047	Hypospadias
ORPHA:2138	NR5A1	2516	HP:0000144	Decreased fertility
ORPHA:2138	NR5A1	2516	HP:0000048	Bifid scrotum
ORPHA:2138	NR5A1	2516	HP:0100779	Urogenital sinus anomaly
ORPHA:2138	SOX9	6662	HP:0000130	Abnormality of the uterus
ORPHA:2138	SOX9	6662	HP:0012856	Abnormal scrotal rugation
ORPHA:2138	SOX9	6662	HP:0000028	Cryptorchidism
ORPHA:2138	SOX9	6662	HP:0000147	Polycystic ovaries
ORPHA:2138	SOX9	6662	HP:0008736	Hypoplasia of penis
ORPHA:2138	SOX9	6662	HP:0000022	Abnormality of male internal genitalia
ORPHA:2138	SOX9	6662	HP:0010459	True hermaphroditism
ORPHA:2138	SOX9	6662	HP:0000046	Scrotal hypoplasia
ORPHA:2138	SOX9	6662	HP:0000047	Hypospadias
ORPHA:2138	SOX9	6662	HP:0000144	Decreased fertility
ORPHA:2138	SOX9	6662	HP:0000048	Bifid scrotum
ORPHA:2138	SOX9	6662	HP:0100779	Urogenital sinus anomaly
OMIM:614876	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX16	9409	HP:0011344	Severe global developmental delay
OMIM:614876	PEX16	9409	HP:0001290	Generalized hypotonia
OMIM:614876	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX16	9409	HP:0001522	Death in infancy
OMIM:614876	PEX16	9409	HP:0000162	Glossoptosis
OMIM:614876	PEX16	9409	HP:0008935	Generalized neonatal hypotonia
OMIM:614876	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614876	PEX16	9409	HP:0000518	Cataract
OMIM:614876	PEX16	9409	HP:0000952	Jaundice
OMIM:614876	PEX16	9409	HP:0001250	Seizures
OMIM:614876	PEX16	9409	HP:0001629	Ventricular septal defect
OMIM:614207	PGAP2	27315	HP:0010864	Intellectual disability, severe
OMIM:614207	PGAP2	27315	HP:0001263	Global developmental delay
OMIM:614207	PGAP2	27315	HP:0003155	Elevated alkaline phosphatase
OMIM:614207	PGAP2	27315	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PGAP2	27315	HP:0002905	Hyperphosphatemia
OMIM:614207	PGAP2	27315	HP:0001290	Generalized hypotonia
OMIM:614207	PGAP2	27315	HP:0003577	Congenital onset
OMIM:185500	ELN	2006	HP:0004950	Peripheral arterial stenosis
OMIM:185500	ELN	2006	HP:0004415	Pulmonary artery stenosis
OMIM:185500	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:185500	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:185500	ELN	2006	HP:0004381	Supravalvular aortic stenosis
OMIM:610678	TUFM	7284	HP:0001522	Death in infancy
OMIM:610678	TUFM	7284	HP:0001942	Metabolic acidosis
OMIM:610678	TUFM	7284	HP:0000007	Autosomal recessive inheritance
OMIM:610678	TUFM	7284	HP:0000639	Nystagmus
OMIM:610678	TUFM	7284	HP:0002151	Increased serum lactate
OMIM:610678	TUFM	7284	HP:0001319	Neonatal hypotonia
OMIM:610678	TUFM	7284	HP:0002240	Hepatomegaly
OMIM:610678	TUFM	7284	HP:0001298	Encephalopathy
OMIM:610678	TUFM	7284	HP:0002126	Polymicrogyria
OMIM:610678	TUFM	7284	HP:0002878	Respiratory failure
OMIM:610678	TUFM	7284	HP:0002179	Opisthotonus
OMIM:610678	TUFM	7284	HP:0003128	Lactic acidosis
OMIM:610678	TUFM	7284	HP:0001511	Intrauterine growth retardation
OMIM:610678	TUFM	7284	HP:0001987	Hyperammonemia
OMIM:610678	TUFM	7284	HP:0002376	Developmental regression
OMIM:610678	TUFM	7284	HP:0003593	Infantile onset
OMIM:610678	TUFM	7284	HP:0000252	Microcephaly
OMIM:616921	PDE10A	10846	HP:0002307	Drooling
OMIM:616921	PDE10A	10846	HP:0002072	Chorea
OMIM:616921	PDE10A	10846	HP:0003593	Infantile onset
OMIM:616921	PDE10A	10846	HP:0002359	Frequent falls
OMIM:616921	PDE10A	10846	HP:0002487	Hyperkinesis
OMIM:616921	PDE10A	10846	HP:0001270	Motor delay
OMIM:616921	PDE10A	10846	HP:0002317	Unsteady gait
OMIM:616921	PDE10A	10846	HP:0000007	Autosomal recessive inheritance
OMIM:616921	PDE10A	10846	HP:0008936	Muscular hypotonia of the trunk
OMIM:616921	PDE10A	10846	HP:0001260	Dysarthria
OMIM:616921	PDE10A	10846	HP:0001250	Seizures
OMIM:616921	PDE10A	10846	HP:0002310	Orofacial dyskinesia
OMIM:616921	PDE10A	10846	HP:0100660	Dyskinesia
OMIM:616039	COX6A1	1337	HP:0001761	Pes cavus
OMIM:616039	COX6A1	1337	HP:0003376	Steppage gait
OMIM:616039	COX6A1	1337	HP:0003677	Slow progression
OMIM:616039	COX6A1	1337	HP:0002936	Distal sensory impairment
OMIM:616039	COX6A1	1337	HP:0003383	Onion bulb formation
OMIM:616039	COX6A1	1337	HP:0001265	Hyporeflexia
OMIM:616039	COX6A1	1337	HP:0001284	Areflexia
OMIM:616039	COX6A1	1337	HP:0009027	Foot dorsiflexor weakness
OMIM:616039	COX6A1	1337	HP:0000007	Autosomal recessive inheritance
OMIM:306700	F8	2157	HP:0001419	X-linked recessive inheritance
OMIM:306700	F8	2157	HP:0005261	Joint hemorrhage
OMIM:306700	F8	2157	HP:0003125	Reduced factor VIII activity
OMIM:306700	F8	2157	HP:0001934	Persistent bleeding after trauma
OMIM:306700	F8	2157	HP:0003645	Prolonged partial thromboplastin time
OMIM:306700	F8	2157	HP:0000978	Bruising susceptibility
OMIM:306700	F8	2157	HP:0002758	Osteoarthritis
OMIM:612301	TNFRSF11A	8792	HP:0000007	Autosomal recessive inheritance
OMIM:612301	TNFRSF11A	8792	HP:0001903	Anemia
OMIM:612301	TNFRSF11A	8792	HP:0007807	Optic nerve compression
OMIM:612301	TNFRSF11A	8792	HP:0100671	Abnormal trabecular bone morphology
OMIM:612301	TNFRSF11A	8792	HP:0006532	Recurrent pneumonia
OMIM:612301	TNFRSF11A	8792	HP:0000529	Progressive visual loss
OMIM:612301	TNFRSF11A	8792	HP:0001263	Global developmental delay
OMIM:612301	TNFRSF11A	8792	HP:0000639	Nystagmus
OMIM:612301	TNFRSF11A	8792	HP:0011002	Osteopetrosis
ORPHA:192	RPS6KA3	6197	HP:0002191	Progressive spasticity
ORPHA:192	RPS6KA3	6197	HP:0000668	Hypodontia
ORPHA:192	RPS6KA3	6197	HP:0005280	Depressed nasal bridge
ORPHA:192	RPS6KA3	6197	HP:0001176	Large hands
ORPHA:192	RPS6KA3	6197	HP:0008872	Feeding difficulties in infancy
ORPHA:192	RPS6KA3	6197	HP:0000768	Pectus carinatum
ORPHA:192	RPS6KA3	6197	HP:0000463	Anteverted nares
ORPHA:192	RPS6KA3	6197	HP:0000232	Everted lower lip vermilion
ORPHA:192	RPS6KA3	6197	HP:0002650	Scoliosis
ORPHA:192	RPS6KA3	6197	HP:0000494	Downslanted palpebral fissures
ORPHA:192	RPS6KA3	6197	HP:0000687	Widely spaced teeth
ORPHA:192	RPS6KA3	6197	HP:0000940	Abnormal diaphysis morphology
ORPHA:192	RPS6KA3	6197	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:192	RPS6KA3	6197	HP:0000411	Protruding ear
ORPHA:192	RPS6KA3	6197	HP:0009193	Pseudoepiphyses of the metacarpals
ORPHA:192	RPS6KA3	6197	HP:0011344	Severe global developmental delay
ORPHA:192	RPS6KA3	6197	HP:0000189	Narrow palate
ORPHA:192	RPS6KA3	6197	HP:0001249	Intellectual disability
ORPHA:192	RPS6KA3	6197	HP:0000154	Wide mouth
ORPHA:192	RPS6KA3	6197	HP:0002007	Frontal bossing
ORPHA:192	RPS6KA3	6197	HP:0000327	Hypoplasia of the maxilla
ORPHA:192	RPS6KA3	6197	HP:0000194	Open mouth
ORPHA:192	RPS6KA3	6197	HP:0001500	Broad finger
ORPHA:192	RPS6KA3	6197	HP:0001804	Hypoplastic fingernail
ORPHA:192	RPS6KA3	6197	HP:0001252	Muscular hypotonia
ORPHA:192	RPS6KA3	6197	HP:0001763	Pes planus
ORPHA:192	RPS6KA3	6197	HP:0010049	Short metacarpal
ORPHA:192	RPS6KA3	6197	HP:0000179	Thick lower lip vermilion
ORPHA:192	RPS6KA3	6197	HP:0000445	Wide nose
ORPHA:192	RPS6KA3	6197	HP:0002167	Neurological speech impairment
ORPHA:192	RPS6KA3	6197	HP:0000286	Epicanthus
ORPHA:192	RPS6KA3	6197	HP:0000767	Pectus excavatum
ORPHA:192	RPS6KA3	6197	HP:0009882	Short distal phalanx of finger
ORPHA:192	RPS6KA3	6197	HP:0002750	Delayed skeletal maturation
ORPHA:192	RPS6KA3	6197	HP:0004322	Short stature
ORPHA:192	RPS6KA3	6197	HP:0004493	Craniofacial hyperostosis
ORPHA:192	RPS6KA3	6197	HP:0001288	Gait disturbance
ORPHA:192	RPS6KA3	6197	HP:0001812	Hyperconvex fingernails
ORPHA:192	RPS6KA3	6197	HP:0009928	Thick nasal alae
ORPHA:192	RPS6KA3	6197	HP:0005692	Joint hyperflexibility
ORPHA:192	RPS6KA3	6197	HP:0000316	Hypertelorism
ORPHA:192	RPS6KA3	6197	HP:0002808	Kyphosis
ORPHA:192	RPS6KA3	6197	HP:0000218	High palate
ORPHA:192	RPS6KA3	6197	HP:0001156	Brachydactyly
ORPHA:192	RPS6KA3	6197	HP:0002119	Ventriculomegaly
ORPHA:192	RPS6KA3	6197	HP:0001582	Redundant skin
ORPHA:192	RPS6KA3	6197	HP:0001182	Tapered finger
ORPHA:192	RPS6KA3	6197	HP:0000252	Microcephaly
ORPHA:192	RPS6KA3	6197	HP:0000280	Coarse facial features
ORPHA:192	RPS6KA3	6197	HP:0006482	Abnormality of dental morphology
ORPHA:192	RPS6KA3	6197	HP:0002868	Narrow iliac wings
OMIM:603585	SLC35A1	10559	HP:0000007	Autosomal recessive inheritance
OMIM:603585	SLC35A1	10559	HP:0001933	Subcutaneous hemorrhage
OMIM:603585	SLC35A1	10559	HP:0040223	Pulmonary hemorrhage
OMIM:603585	SLC35A1	10559	HP:0001875	Neutropenia
OMIM:603585	SLC35A1	10559	HP:0003593	Infantile onset
OMIM:603585	SLC35A1	10559	HP:0002718	Recurrent bacterial infections
OMIM:603585	SLC35A1	10559	HP:0001873	Thrombocytopenia
OMIM:614167	ZNF644	84146	HP:0011003	Severe Myopia
OMIM:614167	ZNF644	84146	HP:0000006	Autosomal dominant inheritance
OMIM:222700	SLC7A7	9056	HP:0001744	Splenomegaly
OMIM:222700	SLC7A7	9056	HP:0001733	Pancreatitis
OMIM:222700	SLC7A7	9056	HP:0002750	Delayed skeletal maturation
OMIM:222700	SLC7A7	9056	HP:0003593	Infantile onset
OMIM:222700	SLC7A7	9056	HP:0008070	Sparse hair
OMIM:222700	SLC7A7	9056	HP:0000974	Hyperextensible skin
OMIM:222700	SLC7A7	9056	HP:0001956	Truncal obesity
OMIM:222700	SLC7A7	9056	HP:0002018	Nausea
OMIM:222700	SLC7A7	9056	HP:0006517	Alveolar proteinosis
OMIM:222700	SLC7A7	9056	HP:0001508	Failure to thrive
OMIM:222700	SLC7A7	9056	HP:0002213	Fine hair
OMIM:222700	SLC7A7	9056	HP:0000007	Autosomal recessive inheritance
OMIM:222700	SLC7A7	9056	HP:0003812	Phenotypic variability
OMIM:222700	SLC7A7	9056	HP:0004322	Short stature
OMIM:222700	SLC7A7	9056	HP:0001873	Thrombocytopenia
OMIM:222700	SLC7A7	9056	HP:0003218	Oroticaciduria
OMIM:222700	SLC7A7	9056	HP:0003281	Increased serum ferritin
OMIM:222700	SLC7A7	9056	HP:0012156	Hemophagocytosis
OMIM:222700	SLC7A7	9056	HP:0000973	Cutis laxa
OMIM:222700	SLC7A7	9056	HP:0003202	Skeletal muscle atrophy
OMIM:222700	SLC7A7	9056	HP:0003355	Aminoaciduria
OMIM:222700	SLC7A7	9056	HP:0002013	Vomiting
OMIM:222700	SLC7A7	9056	HP:0000939	Osteoporosis
OMIM:222700	SLC7A7	9056	HP:0004395	Malnutrition
OMIM:222700	SLC7A7	9056	HP:0001324	Muscle weakness
OMIM:222700	SLC7A7	9056	HP:0003774	Stage 5 chronic kidney disease
OMIM:222700	SLC7A7	9056	HP:0002093	Respiratory insufficiency
OMIM:222700	SLC7A7	9056	HP:0001903	Anemia
OMIM:222700	SLC7A7	9056	HP:0002757	Recurrent fractures
OMIM:222700	SLC7A7	9056	HP:0001987	Hyperammonemia
OMIM:222700	SLC7A7	9056	HP:0001882	Leukopenia
OMIM:222700	SLC7A7	9056	HP:0002240	Hepatomegaly
OMIM:222700	SLC7A7	9056	HP:0001290	Generalized hypotonia
OMIM:222700	SLC7A7	9056	HP:0040223	Pulmonary hemorrhage
OMIM:222700	SLC7A7	9056	HP:0002014	Diarrhea
OMIM:611722	PSAP	5660	HP:0002871	Central apnea
OMIM:611722	PSAP	5660	HP:0003819	Death in childhood
OMIM:611722	PSAP	5660	HP:0002283	Global brain atrophy
OMIM:611722	PSAP	5660	HP:0001276	Hypertonia
OMIM:611722	PSAP	5660	HP:0003593	Infantile onset
OMIM:611722	PSAP	5660	HP:0002922	Increased CSF protein
OMIM:611722	PSAP	5660	HP:0007266	Cerebral dysmyelination
OMIM:611722	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:611722	PSAP	5660	HP:0001265	Hyporeflexia
OMIM:611722	PSAP	5660	HP:0002878	Respiratory failure
OMIM:614972	ABCB4	5244	HP:0200150	Increased serum bile acid concentration during pregnancy
OMIM:614972	ABCB4	5244	HP:0000952	Jaundice
OMIM:614972	ABCB4	5244	HP:0200148	Abnormal liver function tests during pregnancy
OMIM:614972	ABCB4	5244	HP:0000006	Autosomal dominant inheritance
OMIM:614972	ABCB4	5244	HP:0025116	Fetal distress
OMIM:614972	ABCB4	5244	HP:0000989	Pruritus
OMIM:614972	ABCB4	5244	HP:0001622	Premature birth
OMIM:614972	ABCB4	5244	HP:0001406	Intrahepatic cholestasis
OMIM:614255	KIF1A	547	HP:0003676	Progressive
OMIM:614255	KIF1A	547	HP:0001347	Hyperreflexia
OMIM:614255	KIF1A	547	HP:0000252	Microcephaly
OMIM:614255	KIF1A	547	HP:0003487	Babinski sign
OMIM:614255	KIF1A	547	HP:0001272	Cerebellar atrophy
OMIM:614255	KIF1A	547	HP:0003828	Variable expressivity
OMIM:614255	KIF1A	547	HP:0001263	Global developmental delay
OMIM:614255	KIF1A	547	HP:0000006	Autosomal dominant inheritance
ORPHA:794	FGFR3	2261	HP:0000348	High forehead
ORPHA:794	FGFR3	2261	HP:0000426	Prominent nasal bridge
ORPHA:794	FGFR3	2261	HP:0003307	Hyperlordosis
ORPHA:794	FGFR3	2261	HP:0000248	Brachycephaly
ORPHA:794	FGFR3	2261	HP:0000294	Low anterior hairline
ORPHA:794	FGFR3	2261	HP:0001363	Craniosynostosis
ORPHA:794	FGFR3	2261	HP:0000324	Facial asymmetry
ORPHA:794	FGFR3	2261	HP:0001357	Plagiocephaly
ORPHA:794	FGFR3	2261	HP:0000643	Blepharospasm
ORPHA:794	FGFR3	2261	HP:0007598	Bilateral single transverse palmar creases
ORPHA:794	FGFR3	2261	HP:0000444	Convex nasal ridge
ORPHA:794	FGFR3	2261	HP:0000189	Narrow palate
ORPHA:794	FGFR3	2261	HP:0000508	Ptosis
ORPHA:794	FGFR3	2261	HP:0008551	Microtia
ORPHA:794	FGFR3	2261	HP:0004209	Clinodactyly of the 5th finger
ORPHA:794	FGFR3	2261	HP:0008572	External ear malformation
ORPHA:794	FGFR3	2261	HP:0010807	Open bite
ORPHA:794	FGFR3	2261	HP:0009738	Abnormality of the antihelix
ORPHA:794	FGFR3	2261	HP:0009899	Prominent crus of helix
ORPHA:794	FGFR3	2261	HP:0011386	Narrow internal auditory canal
ORPHA:794	FGFR3	2261	HP:0000316	Hypertelorism
ORPHA:794	FGFR3	2261	HP:0000486	Strabismus
ORPHA:794	FGFR3	2261	HP:0006101	Finger syndactyly
ORPHA:794	FGFR3	2261	HP:0000270	Delayed cranial suture closure
ORPHA:794	FGFR3	2261	HP:0001156	Brachydactyly
ORPHA:794	FGFR3	2261	HP:0005280	Depressed nasal bridge
ORPHA:794	FGFR2	2263	HP:0000348	High forehead
ORPHA:794	FGFR2	2263	HP:0000426	Prominent nasal bridge
ORPHA:794	FGFR2	2263	HP:0003307	Hyperlordosis
ORPHA:794	FGFR2	2263	HP:0000248	Brachycephaly
ORPHA:794	FGFR2	2263	HP:0000294	Low anterior hairline
ORPHA:794	FGFR2	2263	HP:0001363	Craniosynostosis
ORPHA:794	FGFR2	2263	HP:0000324	Facial asymmetry
ORPHA:794	FGFR2	2263	HP:0001357	Plagiocephaly
ORPHA:794	FGFR2	2263	HP:0000643	Blepharospasm
ORPHA:794	FGFR2	2263	HP:0007598	Bilateral single transverse palmar creases
ORPHA:794	FGFR2	2263	HP:0000444	Convex nasal ridge
ORPHA:794	FGFR2	2263	HP:0000189	Narrow palate
ORPHA:794	FGFR2	2263	HP:0000508	Ptosis
ORPHA:794	FGFR2	2263	HP:0008551	Microtia
ORPHA:794	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
ORPHA:794	FGFR2	2263	HP:0008572	External ear malformation
ORPHA:794	FGFR2	2263	HP:0010807	Open bite
ORPHA:794	FGFR2	2263	HP:0009738	Abnormality of the antihelix
ORPHA:794	FGFR2	2263	HP:0009899	Prominent crus of helix
ORPHA:794	FGFR2	2263	HP:0011386	Narrow internal auditory canal
ORPHA:794	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:794	FGFR2	2263	HP:0000486	Strabismus
ORPHA:794	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHA:794	FGFR2	2263	HP:0000270	Delayed cranial suture closure
ORPHA:794	FGFR2	2263	HP:0001156	Brachydactyly
ORPHA:794	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:794	TWIST1	7291	HP:0000348	High forehead
ORPHA:794	TWIST1	7291	HP:0000426	Prominent nasal bridge
ORPHA:794	TWIST1	7291	HP:0003307	Hyperlordosis
ORPHA:794	TWIST1	7291	HP:0000248	Brachycephaly
ORPHA:794	TWIST1	7291	HP:0000294	Low anterior hairline
ORPHA:794	TWIST1	7291	HP:0001363	Craniosynostosis
ORPHA:794	TWIST1	7291	HP:0000324	Facial asymmetry
ORPHA:794	TWIST1	7291	HP:0001357	Plagiocephaly
ORPHA:794	TWIST1	7291	HP:0000643	Blepharospasm
ORPHA:794	TWIST1	7291	HP:0007598	Bilateral single transverse palmar creases
ORPHA:794	TWIST1	7291	HP:0000444	Convex nasal ridge
ORPHA:794	TWIST1	7291	HP:0000189	Narrow palate
ORPHA:794	TWIST1	7291	HP:0000508	Ptosis
ORPHA:794	TWIST1	7291	HP:0008551	Microtia
ORPHA:794	TWIST1	7291	HP:0004209	Clinodactyly of the 5th finger
ORPHA:794	TWIST1	7291	HP:0008572	External ear malformation
ORPHA:794	TWIST1	7291	HP:0010807	Open bite
ORPHA:794	TWIST1	7291	HP:0009738	Abnormality of the antihelix
ORPHA:794	TWIST1	7291	HP:0009899	Prominent crus of helix
ORPHA:794	TWIST1	7291	HP:0011386	Narrow internal auditory canal
ORPHA:794	TWIST1	7291	HP:0000316	Hypertelorism
ORPHA:794	TWIST1	7291	HP:0000486	Strabismus
ORPHA:794	TWIST1	7291	HP:0006101	Finger syndactyly
ORPHA:794	TWIST1	7291	HP:0000270	Delayed cranial suture closure
ORPHA:794	TWIST1	7291	HP:0001156	Brachydactyly
ORPHA:794	TWIST1	7291	HP:0005280	Depressed nasal bridge
OMIM:612423	KLKB1	3818	HP:0003645	Prolonged partial thromboplastin time
OMIM:612423	KLKB1	3818	HP:0000007	Autosomal recessive inheritance
OMIM:606835	TRPV4	59341	HP:0009466	Radial deviation of finger
OMIM:606835	TRPV4	59341	HP:0005819	Short middle phalanx of finger
OMIM:606835	TRPV4	59341	HP:0005872	Brachytelomesophalangy
OMIM:606835	TRPV4	59341	HP:0001857	Short distal phalanx of toe
OMIM:606835	TRPV4	59341	HP:0003040	Arthropathy
OMIM:606835	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:606835	TRPV4	59341	HP:0009882	Short distal phalanx of finger
OMIM:606835	TRPV4	59341	HP:0003795	Short middle phalanx of toe
OMIM:606835	TRPV4	59341	HP:0003621	Juvenile onset
OMIM:229070	FSHB	2488	HP:0000789	Infertility
OMIM:229070	FSHB	2488	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:229070	FSHB	2488	HP:0008734	Decreased testicular size
OMIM:229070	FSHB	2488	HP:0002750	Delayed skeletal maturation
OMIM:229070	FSHB	2488	HP:0000007	Autosomal recessive inheritance
OMIM:229070	FSHB	2488	HP:0000786	Primary amenorrhea
OMIM:609634	SCN1A	6323	HP:0002077	Migraine with aura
OMIM:609634	SCN1A	6323	HP:0002301	Hemiplegia
OMIM:609634	SCN1A	6323	HP:0001250	Seizures
OMIM:609634	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:609634	SCN1A	6323	HP:0001269	Hemiparesis
OMIM:609634	SCN1A	6323	HP:0000618	Blindness
OMIM:609634	SCN1A	6323	HP:0000613	Photophobia
OMIM:613254	TSC2	7249	HP:0009729	Cardiac rhabdomyoma
OMIM:613254	TSC2	7249	HP:0002888	Ependymoma
OMIM:613254	TSC2	7249	HP:0009720	Adenoma sebaceum
OMIM:613254	TSC2	7249	HP:0000006	Autosomal dominant inheritance
OMIM:613254	TSC2	7249	HP:0001328	Specific learning disability
OMIM:613254	TSC2	7249	HP:0009724	Subungual fibromas
OMIM:613254	TSC2	7249	HP:0010762	Chordoma
OMIM:613254	TSC2	7249	HP:0009734	Optic glioma
OMIM:613254	TSC2	7249	HP:0006772	Renal angiomyolipoma
OMIM:613254	TSC2	7249	HP:0003812	Phenotypic variability
OMIM:613254	TSC2	7249	HP:0009592	Astrocytoma
OMIM:613254	TSC2	7249	HP:0009727	Achromatic retinal patches
OMIM:613254	TSC2	7249	HP:0000957	Cafe-au-lait spot
OMIM:613254	TSC2	7249	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:613254	TSC2	7249	HP:0009716	Subependymal nodules
OMIM:613254	TSC2	7249	HP:0000169	Gingival fibromatosis
OMIM:613254	TSC2	7249	HP:0000821	Hypothyroidism
OMIM:613254	TSC2	7249	HP:0000826	Precocious puberty
OMIM:613254	TSC2	7249	HP:0000107	Renal cyst
OMIM:613254	TSC2	7249	HP:0001482	Subcutaneous nodule
OMIM:613254	TSC2	7249	HP:0000717	Autism
OMIM:613254	TSC2	7249	HP:0001425	Heterogeneous
OMIM:613254	TSC2	7249	HP:0002514	Cerebral calcification
OMIM:613254	TSC2	7249	HP:0009717	Cortical tubers
OMIM:613254	TSC2	7249	HP:0009721	Shagreen patch
OMIM:613254	TSC2	7249	HP:0012469	Infantile spasms
OMIM:613254	TSC2	7249	HP:0005584	Renal cell carcinoma
OMIM:613254	TSC2	7249	HP:0007018	Attention deficit hyperactivity disorder
OMIM:614890	IL12B	3593	HP:0002721	Immunodeficiency
OMIM:614890	IL12B	3593	HP:0000007	Autosomal recessive inheritance
OMIM:259420	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:259420	COL1A1	1277	HP:0008921	Neonatal short-limb short stature
OMIM:259420	COL1A1	1277	HP:0003100	Slender long bone
OMIM:259420	COL1A1	1277	HP:0003023	Bowing of limbs due to multiple fractures
OMIM:259420	COL1A1	1277	HP:0002092	Pulmonary arterial hypertension
OMIM:259420	COL1A1	1277	HP:0004586	Biconcave vertebral bodies
OMIM:259420	COL1A1	1277	HP:0005474	Decreased calvarial ossification
OMIM:259420	COL1A1	1277	HP:0005758	Basilar impression
OMIM:259420	COL1A1	1277	HP:0002007	Frontal bossing
OMIM:259420	COL1A1	1277	HP:0002645	Wormian bones
OMIM:259420	COL1A1	1277	HP:0000707	Abnormality of the nervous system
OMIM:259420	COL1A1	1277	HP:0005855	Multiple prenatal fractures
OMIM:259420	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:259420	COL1A1	1277	HP:0000703	Dentinogenesis imperfecta
OMIM:259420	COL1A1	1277	HP:0005897	Severe generalized osteoporosis
OMIM:259420	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:259420	COL1A1	1277	HP:0000347	Micrognathia
OMIM:259420	COL1A1	1277	HP:0002650	Scoliosis
OMIM:259420	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:259420	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:259420	COL1A1	1277	HP:0000260	Wide anterior fontanel
OMIM:259420	COL1A1	1277	HP:0003179	Protrusio acetabuli
OMIM:259420	COL1A1	1277	HP:0002691	Platybasia
OMIM:259420	COL1A1	1277	HP:0002808	Kyphosis
OMIM:259420	COL1A1	1277	HP:0000325	Triangular face
OMIM:259420	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:259420	COL1A1	1277	HP:0000765	Abnormality of the thorax
OMIM:259420	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:259420	COL1A2	1278	HP:0008921	Neonatal short-limb short stature
OMIM:259420	COL1A2	1278	HP:0003100	Slender long bone
OMIM:259420	COL1A2	1278	HP:0003023	Bowing of limbs due to multiple fractures
OMIM:259420	COL1A2	1278	HP:0002092	Pulmonary arterial hypertension
OMIM:259420	COL1A2	1278	HP:0004586	Biconcave vertebral bodies
OMIM:259420	COL1A2	1278	HP:0005474	Decreased calvarial ossification
OMIM:259420	COL1A2	1278	HP:0005758	Basilar impression
OMIM:259420	COL1A2	1278	HP:0002007	Frontal bossing
OMIM:259420	COL1A2	1278	HP:0002645	Wormian bones
OMIM:259420	COL1A2	1278	HP:0000707	Abnormality of the nervous system
OMIM:259420	COL1A2	1278	HP:0005855	Multiple prenatal fractures
OMIM:259420	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:259420	COL1A2	1278	HP:0000703	Dentinogenesis imperfecta
OMIM:259420	COL1A2	1278	HP:0005897	Severe generalized osteoporosis
OMIM:259420	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:259420	COL1A2	1278	HP:0000347	Micrognathia
OMIM:259420	COL1A2	1278	HP:0002650	Scoliosis
OMIM:259420	COL1A2	1278	HP:0002982	Tibial bowing
OMIM:259420	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:259420	COL1A2	1278	HP:0000260	Wide anterior fontanel
OMIM:259420	COL1A2	1278	HP:0003179	Protrusio acetabuli
OMIM:259420	COL1A2	1278	HP:0002691	Platybasia
OMIM:259420	COL1A2	1278	HP:0002808	Kyphosis
OMIM:259420	COL1A2	1278	HP:0000325	Triangular face
OMIM:259420	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:259420	COL1A2	1278	HP:0000765	Abnormality of the thorax
OMIM:616339	AARS	16	HP:0002072	Chorea
OMIM:616339	AARS	16	HP:0001511	Intrauterine growth retardation
OMIM:616339	AARS	16	HP:0000007	Autosomal recessive inheritance
OMIM:616339	AARS	16	HP:0000643	Blepharospasm
OMIM:616339	AARS	16	HP:0001508	Failure to thrive
OMIM:616339	AARS	16	HP:0000639	Nystagmus
OMIM:616339	AARS	16	HP:0000252	Microcephaly
OMIM:616339	AARS	16	HP:0002059	Cerebral atrophy
OMIM:616339	AARS	16	HP:0200134	Epileptic encephalopathy
OMIM:616339	AARS	16	HP:0002827	Hip dislocation
OMIM:616339	AARS	16	HP:0003429	CNS hypomyelination
OMIM:616339	AARS	16	HP:0001284	Areflexia
OMIM:616339	AARS	16	HP:0001290	Generalized hypotonia
OMIM:616339	AARS	16	HP:0004322	Short stature
OMIM:616339	AARS	16	HP:0001263	Global developmental delay
OMIM:616339	AARS	16	HP:0001257	Spasticity
OMIM:616339	AARS	16	HP:0003577	Congenital onset
OMIM:616339	AARS	16	HP:0009830	Peripheral neuropathy
OMIM:617088	DYNC2LI1	51626	HP:0000286	Epicanthus
OMIM:617088	DYNC2LI1	51626	HP:0000888	Horizontal ribs
OMIM:617088	DYNC2LI1	51626	HP:0001561	Polyhydramnios
OMIM:617088	DYNC2LI1	51626	HP:0001744	Splenomegaly
OMIM:617088	DYNC2LI1	51626	HP:0000007	Autosomal recessive inheritance
OMIM:617088	DYNC2LI1	51626	HP:0000773	Short ribs
OMIM:617088	DYNC2LI1	51626	HP:0000369	Low-set ears
OMIM:617088	DYNC2LI1	51626	HP:0004322	Short stature
OMIM:617088	DYNC2LI1	51626	HP:0002240	Hepatomegaly
OMIM:617088	DYNC2LI1	51626	HP:0001162	Postaxial hand polydactyly
OMIM:617088	DYNC2LI1	51626	HP:0005280	Depressed nasal bridge
OMIM:617088	DYNC2LI1	51626	HP:0000494	Downslanted palpebral fissures
OMIM:617088	DYNC2LI1	51626	HP:0006695	Atrioventricular canal defect
OMIM:184252	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:184252	TRPV4	59341	HP:0002812	Coxa vara
OMIM:184252	TRPV4	59341	HP:0006069	Severe carpal ossification delay
OMIM:184252	TRPV4	59341	HP:0005042	Irregular, rachitic-like metaphyses
OMIM:184252	TRPV4	59341	HP:0003180	Flat acetabular roof
OMIM:184252	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:184252	TRPV4	59341	HP:0001498	Carpal bone hypoplasia
OMIM:184252	TRPV4	59341	HP:0001760	Abnormality of the foot
OMIM:184252	TRPV4	59341	HP:0002657	Spondylometaphyseal dysplasia
OMIM:184252	TRPV4	59341	HP:0000271	Abnormality of the face
OMIM:184252	TRPV4	59341	HP:0000470	Short neck
OMIM:184252	TRPV4	59341	HP:0001547	Abnormality of the rib cage
OMIM:184252	TRPV4	59341	HP:0002515	Waddling gait
OMIM:184252	TRPV4	59341	HP:0002751	Kyphoscoliosis
OMIM:184252	TRPV4	59341	HP:0003015	Flared metaphysis
OMIM:184252	TRPV4	59341	HP:0002750	Delayed skeletal maturation
OMIM:184252	TRPV4	59341	HP:0003311	Hypoplasia of the odontoid process
OMIM:184252	TRPV4	59341	HP:0000768	Pectus carinatum
OMIM:184252	TRPV4	59341	HP:0003521	Disproportionate short-trunk short stature
OMIM:184252	TRPV4	59341	HP:0008833	Irregular acetabular roof
OMIM:616212	KATNB1	10300	HP:0001339	Lissencephaly
OMIM:616212	KATNB1	10300	HP:0002119	Ventriculomegaly
OMIM:616212	KATNB1	10300	HP:0001263	Global developmental delay
OMIM:616212	KATNB1	10300	HP:0001338	Partial agenesis of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0009879	Cortical gyral simplification
OMIM:616212	KATNB1	10300	HP:0001302	Pachygyria
OMIM:616212	KATNB1	10300	HP:0100543	Cognitive impairment
OMIM:616212	KATNB1	10300	HP:0000007	Autosomal recessive inheritance
OMIM:616212	KATNB1	10300	HP:0000252	Microcephaly
OMIM:616212	KATNB1	10300	HP:0002126	Polymicrogyria
OMIM:616212	KATNB1	10300	HP:0003593	Infantile onset
OMIM:616212	KATNB1	10300	HP:0000340	Sloping forehead
OMIM:256000	NDUFA9	4704	HP:0001251	Ataxia
OMIM:256000	NDUFA9	4704	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA9	4704	HP:0000486	Strabismus
OMIM:256000	NDUFA9	4704	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA9	4704	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA9	4704	HP:0000508	Ptosis
OMIM:256000	NDUFA9	4704	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA9	4704	HP:0002878	Respiratory failure
OMIM:256000	NDUFA9	4704	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA9	4704	HP:0001260	Dysarthria
OMIM:256000	NDUFA9	4704	HP:0003676	Progressive
OMIM:256000	NDUFA9	4704	HP:0000648	Optic atrophy
OMIM:256000	NDUFA9	4704	HP:0001332	Dystonia
OMIM:256000	NDUFA9	4704	HP:0003593	Infantile onset
OMIM:256000	NDUFA9	4704	HP:0002171	Gliosis
OMIM:256000	NDUFA9	4704	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA9	4704	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA9	4704	HP:0001425	Heterogeneous
OMIM:256000	NDUFA9	4704	HP:0001249	Intellectual disability
OMIM:256000	NDUFA9	4704	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA9	4704	HP:0007305	CNS demyelination
OMIM:256000	NDUFA9	4704	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA9	4704	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFA9	4704	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA9	4704	HP:0000712	Emotional lability
OMIM:256000	NDUFA9	4704	HP:0001263	Global developmental delay
OMIM:256000	NDUFA9	4704	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA9	4704	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA9	4704	HP:0001508	Failure to thrive
OMIM:256000	NDUFA9	4704	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA9	4704	HP:0000639	Nystagmus
OMIM:256000	NDUFA9	4704	HP:0001257	Spasticity
OMIM:256000	NDUFA9	4704	HP:0001250	Seizures
OMIM:256000	NDUFA10	4705	HP:0001251	Ataxia
OMIM:256000	NDUFA10	4705	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA10	4705	HP:0000486	Strabismus
OMIM:256000	NDUFA10	4705	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA10	4705	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA10	4705	HP:0000508	Ptosis
OMIM:256000	NDUFA10	4705	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA10	4705	HP:0002878	Respiratory failure
OMIM:256000	NDUFA10	4705	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA10	4705	HP:0001260	Dysarthria
OMIM:256000	NDUFA10	4705	HP:0003676	Progressive
OMIM:256000	NDUFA10	4705	HP:0000648	Optic atrophy
OMIM:256000	NDUFA10	4705	HP:0001332	Dystonia
OMIM:256000	NDUFA10	4705	HP:0003593	Infantile onset
OMIM:256000	NDUFA10	4705	HP:0002171	Gliosis
OMIM:256000	NDUFA10	4705	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA10	4705	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA10	4705	HP:0001425	Heterogeneous
OMIM:256000	NDUFA10	4705	HP:0001249	Intellectual disability
OMIM:256000	NDUFA10	4705	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA10	4705	HP:0007305	CNS demyelination
OMIM:256000	NDUFA10	4705	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA10	4705	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFA10	4705	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA10	4705	HP:0000712	Emotional lability
OMIM:256000	NDUFA10	4705	HP:0001263	Global developmental delay
OMIM:256000	NDUFA10	4705	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA10	4705	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA10	4705	HP:0001508	Failure to thrive
OMIM:256000	NDUFA10	4705	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA10	4705	HP:0000639	Nystagmus
OMIM:256000	NDUFA10	4705	HP:0001257	Spasticity
OMIM:256000	NDUFA10	4705	HP:0001250	Seizures
OMIM:256000	NDUFAF2	91942	HP:0001251	Ataxia
OMIM:256000	NDUFAF2	91942	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFAF2	91942	HP:0000486	Strabismus
OMIM:256000	NDUFAF2	91942	HP:0000998	Hypertrichosis
OMIM:256000	NDUFAF2	91942	HP:0003812	Phenotypic variability
OMIM:256000	NDUFAF2	91942	HP:0000508	Ptosis
OMIM:256000	NDUFAF2	91942	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFAF2	91942	HP:0002878	Respiratory failure
OMIM:256000	NDUFAF2	91942	HP:0002151	Increased serum lactate
OMIM:256000	NDUFAF2	91942	HP:0001260	Dysarthria
OMIM:256000	NDUFAF2	91942	HP:0003676	Progressive
OMIM:256000	NDUFAF2	91942	HP:0000648	Optic atrophy
OMIM:256000	NDUFAF2	91942	HP:0001332	Dystonia
OMIM:256000	NDUFAF2	91942	HP:0003593	Infantile onset
OMIM:256000	NDUFAF2	91942	HP:0002171	Gliosis
OMIM:256000	NDUFAF2	91942	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFAF2	91942	HP:0003128	Lactic acidosis
OMIM:256000	NDUFAF2	91942	HP:0001425	Heterogeneous
OMIM:256000	NDUFAF2	91942	HP:0001249	Intellectual disability
OMIM:256000	NDUFAF2	91942	HP:0001347	Hyperreflexia
OMIM:256000	NDUFAF2	91942	HP:0007305	CNS demyelination
OMIM:256000	NDUFAF2	91942	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFAF2	91942	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFAF2	91942	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFAF2	91942	HP:0000712	Emotional lability
OMIM:256000	NDUFAF2	91942	HP:0001263	Global developmental delay
OMIM:256000	NDUFAF2	91942	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFAF2	91942	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFAF2	91942	HP:0001508	Failure to thrive
OMIM:256000	NDUFAF2	91942	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFAF2	91942	HP:0000639	Nystagmus
OMIM:256000	NDUFAF2	91942	HP:0001257	Spasticity
OMIM:256000	NDUFAF2	91942	HP:0001250	Seizures
OMIM:256000	COX10	1352	HP:0001251	Ataxia
OMIM:256000	COX10	1352	HP:0002490	Increased CSF lactate
OMIM:256000	COX10	1352	HP:0000486	Strabismus
OMIM:256000	COX10	1352	HP:0000998	Hypertrichosis
OMIM:256000	COX10	1352	HP:0003812	Phenotypic variability
OMIM:256000	COX10	1352	HP:0000508	Ptosis
OMIM:256000	COX10	1352	HP:0000580	Pigmentary retinopathy
OMIM:256000	COX10	1352	HP:0002878	Respiratory failure
OMIM:256000	COX10	1352	HP:0002151	Increased serum lactate
OMIM:256000	COX10	1352	HP:0001260	Dysarthria
OMIM:256000	COX10	1352	HP:0003676	Progressive
OMIM:256000	COX10	1352	HP:0000648	Optic atrophy
OMIM:256000	COX10	1352	HP:0001332	Dystonia
OMIM:256000	COX10	1352	HP:0003593	Infantile onset
OMIM:256000	COX10	1352	HP:0002171	Gliosis
OMIM:256000	COX10	1352	HP:0000602	Ophthalmoplegia
OMIM:256000	COX10	1352	HP:0003128	Lactic acidosis
OMIM:256000	COX10	1352	HP:0001425	Heterogeneous
OMIM:256000	COX10	1352	HP:0001249	Intellectual disability
OMIM:256000	COX10	1352	HP:0001347	Hyperreflexia
OMIM:256000	COX10	1352	HP:0007305	CNS demyelination
OMIM:256000	COX10	1352	HP:0002793	Abnormal pattern of respiration
OMIM:256000	COX10	1352	HP:0001290	Generalized hypotonia
OMIM:256000	COX10	1352	HP:0000407	Sensorineural hearing impairment
OMIM:256000	COX10	1352	HP:0000712	Emotional lability
OMIM:256000	COX10	1352	HP:0001263	Global developmental delay
OMIM:256000	COX10	1352	HP:0001404	Hepatocellular necrosis
OMIM:256000	COX10	1352	HP:0001427	Mitochondrial inheritance
OMIM:256000	COX10	1352	HP:0001508	Failure to thrive
OMIM:256000	COX10	1352	HP:0000007	Autosomal recessive inheritance
OMIM:256000	COX10	1352	HP:0000639	Nystagmus
OMIM:256000	COX10	1352	HP:0001257	Spasticity
OMIM:256000	COX10	1352	HP:0001250	Seizures
OMIM:256000	BCS1L	617	HP:0001251	Ataxia
OMIM:256000	BCS1L	617	HP:0002490	Increased CSF lactate
OMIM:256000	BCS1L	617	HP:0000486	Strabismus
OMIM:256000	BCS1L	617	HP:0000998	Hypertrichosis
OMIM:256000	BCS1L	617	HP:0003812	Phenotypic variability
OMIM:256000	BCS1L	617	HP:0000508	Ptosis
OMIM:256000	BCS1L	617	HP:0000580	Pigmentary retinopathy
OMIM:256000	BCS1L	617	HP:0002878	Respiratory failure
OMIM:256000	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:256000	BCS1L	617	HP:0001260	Dysarthria
OMIM:256000	BCS1L	617	HP:0003676	Progressive
OMIM:256000	BCS1L	617	HP:0000648	Optic atrophy
OMIM:256000	BCS1L	617	HP:0001332	Dystonia
OMIM:256000	BCS1L	617	HP:0003593	Infantile onset
OMIM:256000	BCS1L	617	HP:0002171	Gliosis
OMIM:256000	BCS1L	617	HP:0000602	Ophthalmoplegia
OMIM:256000	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:256000	BCS1L	617	HP:0001425	Heterogeneous
OMIM:256000	BCS1L	617	HP:0001249	Intellectual disability
OMIM:256000	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:256000	BCS1L	617	HP:0007305	CNS demyelination
OMIM:256000	BCS1L	617	HP:0002793	Abnormal pattern of respiration
OMIM:256000	BCS1L	617	HP:0001290	Generalized hypotonia
OMIM:256000	BCS1L	617	HP:0000407	Sensorineural hearing impairment
OMIM:256000	BCS1L	617	HP:0000712	Emotional lability
OMIM:256000	BCS1L	617	HP:0001263	Global developmental delay
OMIM:256000	BCS1L	617	HP:0001404	Hepatocellular necrosis
OMIM:256000	BCS1L	617	HP:0001427	Mitochondrial inheritance
OMIM:256000	BCS1L	617	HP:0001508	Failure to thrive
OMIM:256000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:256000	BCS1L	617	HP:0000639	Nystagmus
OMIM:256000	BCS1L	617	HP:0001257	Spasticity
OMIM:256000	BCS1L	617	HP:0001250	Seizures
OMIM:256000	COX15	1355	HP:0001251	Ataxia
OMIM:256000	COX15	1355	HP:0002490	Increased CSF lactate
OMIM:256000	COX15	1355	HP:0000486	Strabismus
OMIM:256000	COX15	1355	HP:0000998	Hypertrichosis
OMIM:256000	COX15	1355	HP:0003812	Phenotypic variability
OMIM:256000	COX15	1355	HP:0000508	Ptosis
OMIM:256000	COX15	1355	HP:0000580	Pigmentary retinopathy
OMIM:256000	COX15	1355	HP:0002878	Respiratory failure
OMIM:256000	COX15	1355	HP:0002151	Increased serum lactate
OMIM:256000	COX15	1355	HP:0001260	Dysarthria
OMIM:256000	COX15	1355	HP:0003676	Progressive
OMIM:256000	COX15	1355	HP:0000648	Optic atrophy
OMIM:256000	COX15	1355	HP:0001332	Dystonia
OMIM:256000	COX15	1355	HP:0003593	Infantile onset
OMIM:256000	COX15	1355	HP:0002171	Gliosis
OMIM:256000	COX15	1355	HP:0000602	Ophthalmoplegia
OMIM:256000	COX15	1355	HP:0003128	Lactic acidosis
OMIM:256000	COX15	1355	HP:0001425	Heterogeneous
OMIM:256000	COX15	1355	HP:0001249	Intellectual disability
OMIM:256000	COX15	1355	HP:0001347	Hyperreflexia
OMIM:256000	COX15	1355	HP:0007305	CNS demyelination
OMIM:256000	COX15	1355	HP:0002793	Abnormal pattern of respiration
OMIM:256000	COX15	1355	HP:0001290	Generalized hypotonia
OMIM:256000	COX15	1355	HP:0000407	Sensorineural hearing impairment
OMIM:256000	COX15	1355	HP:0000712	Emotional lability
OMIM:256000	COX15	1355	HP:0001263	Global developmental delay
OMIM:256000	COX15	1355	HP:0001404	Hepatocellular necrosis
OMIM:256000	COX15	1355	HP:0001427	Mitochondrial inheritance
OMIM:256000	COX15	1355	HP:0001508	Failure to thrive
OMIM:256000	COX15	1355	HP:0000007	Autosomal recessive inheritance
OMIM:256000	COX15	1355	HP:0000639	Nystagmus
OMIM:256000	COX15	1355	HP:0001257	Spasticity
OMIM:256000	COX15	1355	HP:0001250	Seizures
OMIM:256000	NDUFAF6	137682	HP:0001251	Ataxia
OMIM:256000	NDUFAF6	137682	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFAF6	137682	HP:0000486	Strabismus
OMIM:256000	NDUFAF6	137682	HP:0000998	Hypertrichosis
OMIM:256000	NDUFAF6	137682	HP:0003812	Phenotypic variability
OMIM:256000	NDUFAF6	137682	HP:0000508	Ptosis
OMIM:256000	NDUFAF6	137682	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFAF6	137682	HP:0002878	Respiratory failure
OMIM:256000	NDUFAF6	137682	HP:0002151	Increased serum lactate
OMIM:256000	NDUFAF6	137682	HP:0001260	Dysarthria
OMIM:256000	NDUFAF6	137682	HP:0003676	Progressive
OMIM:256000	NDUFAF6	137682	HP:0000648	Optic atrophy
OMIM:256000	NDUFAF6	137682	HP:0001332	Dystonia
OMIM:256000	NDUFAF6	137682	HP:0003593	Infantile onset
OMIM:256000	NDUFAF6	137682	HP:0002171	Gliosis
OMIM:256000	NDUFAF6	137682	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFAF6	137682	HP:0003128	Lactic acidosis
OMIM:256000	NDUFAF6	137682	HP:0001425	Heterogeneous
OMIM:256000	NDUFAF6	137682	HP:0001249	Intellectual disability
OMIM:256000	NDUFAF6	137682	HP:0001347	Hyperreflexia
OMIM:256000	NDUFAF6	137682	HP:0007305	CNS demyelination
OMIM:256000	NDUFAF6	137682	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFAF6	137682	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFAF6	137682	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFAF6	137682	HP:0000712	Emotional lability
OMIM:256000	NDUFAF6	137682	HP:0001263	Global developmental delay
OMIM:256000	NDUFAF6	137682	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFAF6	137682	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFAF6	137682	HP:0001508	Failure to thrive
OMIM:256000	NDUFAF6	137682	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFAF6	137682	HP:0000639	Nystagmus
OMIM:256000	NDUFAF6	137682	HP:0001257	Spasticity
OMIM:256000	NDUFAF6	137682	HP:0001250	Seizures
OMIM:256000	NDUFS3	4722	HP:0001251	Ataxia
OMIM:256000	NDUFS3	4722	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS3	4722	HP:0000486	Strabismus
OMIM:256000	NDUFS3	4722	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS3	4722	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS3	4722	HP:0000508	Ptosis
OMIM:256000	NDUFS3	4722	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS3	4722	HP:0002878	Respiratory failure
OMIM:256000	NDUFS3	4722	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS3	4722	HP:0001260	Dysarthria
OMIM:256000	NDUFS3	4722	HP:0003676	Progressive
OMIM:256000	NDUFS3	4722	HP:0000648	Optic atrophy
OMIM:256000	NDUFS3	4722	HP:0001332	Dystonia
OMIM:256000	NDUFS3	4722	HP:0003593	Infantile onset
OMIM:256000	NDUFS3	4722	HP:0002171	Gliosis
OMIM:256000	NDUFS3	4722	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS3	4722	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS3	4722	HP:0001425	Heterogeneous
OMIM:256000	NDUFS3	4722	HP:0001249	Intellectual disability
OMIM:256000	NDUFS3	4722	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS3	4722	HP:0007305	CNS demyelination
OMIM:256000	NDUFS3	4722	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS3	4722	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFS3	4722	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS3	4722	HP:0000712	Emotional lability
OMIM:256000	NDUFS3	4722	HP:0001263	Global developmental delay
OMIM:256000	NDUFS3	4722	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS3	4722	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS3	4722	HP:0001508	Failure to thrive
OMIM:256000	NDUFS3	4722	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS3	4722	HP:0000639	Nystagmus
OMIM:256000	NDUFS3	4722	HP:0001257	Spasticity
OMIM:256000	NDUFS3	4722	HP:0001250	Seizures
OMIM:256000	SURF1	6834	HP:0001251	Ataxia
OMIM:256000	SURF1	6834	HP:0002490	Increased CSF lactate
OMIM:256000	SURF1	6834	HP:0000486	Strabismus
OMIM:256000	SURF1	6834	HP:0000998	Hypertrichosis
OMIM:256000	SURF1	6834	HP:0003812	Phenotypic variability
OMIM:256000	SURF1	6834	HP:0000508	Ptosis
OMIM:256000	SURF1	6834	HP:0000580	Pigmentary retinopathy
OMIM:256000	SURF1	6834	HP:0002878	Respiratory failure
OMIM:256000	SURF1	6834	HP:0002151	Increased serum lactate
OMIM:256000	SURF1	6834	HP:0001260	Dysarthria
OMIM:256000	SURF1	6834	HP:0003676	Progressive
OMIM:256000	SURF1	6834	HP:0000648	Optic atrophy
OMIM:256000	SURF1	6834	HP:0001332	Dystonia
OMIM:256000	SURF1	6834	HP:0003593	Infantile onset
OMIM:256000	SURF1	6834	HP:0002171	Gliosis
OMIM:256000	SURF1	6834	HP:0000602	Ophthalmoplegia
OMIM:256000	SURF1	6834	HP:0003128	Lactic acidosis
OMIM:256000	SURF1	6834	HP:0001425	Heterogeneous
OMIM:256000	SURF1	6834	HP:0001249	Intellectual disability
OMIM:256000	SURF1	6834	HP:0001347	Hyperreflexia
OMIM:256000	SURF1	6834	HP:0007305	CNS demyelination
OMIM:256000	SURF1	6834	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SURF1	6834	HP:0001290	Generalized hypotonia
OMIM:256000	SURF1	6834	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SURF1	6834	HP:0000712	Emotional lability
OMIM:256000	SURF1	6834	HP:0001263	Global developmental delay
OMIM:256000	SURF1	6834	HP:0001404	Hepatocellular necrosis
OMIM:256000	SURF1	6834	HP:0001427	Mitochondrial inheritance
OMIM:256000	SURF1	6834	HP:0001508	Failure to thrive
OMIM:256000	SURF1	6834	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SURF1	6834	HP:0000639	Nystagmus
OMIM:256000	SURF1	6834	HP:0001257	Spasticity
OMIM:256000	SURF1	6834	HP:0001250	Seizures
OMIM:256000	NDUFS4	4724	HP:0001251	Ataxia
OMIM:256000	NDUFS4	4724	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS4	4724	HP:0000486	Strabismus
OMIM:256000	NDUFS4	4724	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS4	4724	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS4	4724	HP:0000508	Ptosis
OMIM:256000	NDUFS4	4724	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS4	4724	HP:0002878	Respiratory failure
OMIM:256000	NDUFS4	4724	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS4	4724	HP:0001260	Dysarthria
OMIM:256000	NDUFS4	4724	HP:0003676	Progressive
OMIM:256000	NDUFS4	4724	HP:0000648	Optic atrophy
OMIM:256000	NDUFS4	4724	HP:0001332	Dystonia
OMIM:256000	NDUFS4	4724	HP:0003593	Infantile onset
OMIM:256000	NDUFS4	4724	HP:0002171	Gliosis
OMIM:256000	NDUFS4	4724	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS4	4724	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS4	4724	HP:0001425	Heterogeneous
OMIM:256000	NDUFS4	4724	HP:0001249	Intellectual disability
OMIM:256000	NDUFS4	4724	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS4	4724	HP:0007305	CNS demyelination
OMIM:256000	NDUFS4	4724	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS4	4724	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFS4	4724	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS4	4724	HP:0000712	Emotional lability
OMIM:256000	NDUFS4	4724	HP:0001263	Global developmental delay
OMIM:256000	NDUFS4	4724	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS4	4724	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS4	4724	HP:0001508	Failure to thrive
OMIM:256000	NDUFS4	4724	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS4	4724	HP:0000639	Nystagmus
OMIM:256000	NDUFS4	4724	HP:0001257	Spasticity
OMIM:256000	NDUFS4	4724	HP:0001250	Seizures
OMIM:256000	FOXRED1	55572	HP:0001251	Ataxia
OMIM:256000	FOXRED1	55572	HP:0002490	Increased CSF lactate
OMIM:256000	FOXRED1	55572	HP:0000486	Strabismus
OMIM:256000	FOXRED1	55572	HP:0000998	Hypertrichosis
OMIM:256000	FOXRED1	55572	HP:0003812	Phenotypic variability
OMIM:256000	FOXRED1	55572	HP:0000508	Ptosis
OMIM:256000	FOXRED1	55572	HP:0000580	Pigmentary retinopathy
OMIM:256000	FOXRED1	55572	HP:0002878	Respiratory failure
OMIM:256000	FOXRED1	55572	HP:0002151	Increased serum lactate
OMIM:256000	FOXRED1	55572	HP:0001260	Dysarthria
OMIM:256000	FOXRED1	55572	HP:0003676	Progressive
OMIM:256000	FOXRED1	55572	HP:0000648	Optic atrophy
OMIM:256000	FOXRED1	55572	HP:0001332	Dystonia
OMIM:256000	FOXRED1	55572	HP:0003593	Infantile onset
OMIM:256000	FOXRED1	55572	HP:0002171	Gliosis
OMIM:256000	FOXRED1	55572	HP:0000602	Ophthalmoplegia
OMIM:256000	FOXRED1	55572	HP:0003128	Lactic acidosis
OMIM:256000	FOXRED1	55572	HP:0001425	Heterogeneous
OMIM:256000	FOXRED1	55572	HP:0001249	Intellectual disability
OMIM:256000	FOXRED1	55572	HP:0001347	Hyperreflexia
OMIM:256000	FOXRED1	55572	HP:0007305	CNS demyelination
OMIM:256000	FOXRED1	55572	HP:0002793	Abnormal pattern of respiration
OMIM:256000	FOXRED1	55572	HP:0001290	Generalized hypotonia
OMIM:256000	FOXRED1	55572	HP:0000407	Sensorineural hearing impairment
OMIM:256000	FOXRED1	55572	HP:0000712	Emotional lability
OMIM:256000	FOXRED1	55572	HP:0001263	Global developmental delay
OMIM:256000	FOXRED1	55572	HP:0001404	Hepatocellular necrosis
OMIM:256000	FOXRED1	55572	HP:0001427	Mitochondrial inheritance
OMIM:256000	FOXRED1	55572	HP:0001508	Failure to thrive
OMIM:256000	FOXRED1	55572	HP:0000007	Autosomal recessive inheritance
OMIM:256000	FOXRED1	55572	HP:0000639	Nystagmus
OMIM:256000	FOXRED1	55572	HP:0001257	Spasticity
OMIM:256000	FOXRED1	55572	HP:0001250	Seizures
OMIM:256000	SDHA	6389	HP:0001251	Ataxia
OMIM:256000	SDHA	6389	HP:0002490	Increased CSF lactate
OMIM:256000	SDHA	6389	HP:0000486	Strabismus
OMIM:256000	SDHA	6389	HP:0000998	Hypertrichosis
OMIM:256000	SDHA	6389	HP:0003812	Phenotypic variability
OMIM:256000	SDHA	6389	HP:0000508	Ptosis
OMIM:256000	SDHA	6389	HP:0000580	Pigmentary retinopathy
OMIM:256000	SDHA	6389	HP:0002878	Respiratory failure
OMIM:256000	SDHA	6389	HP:0002151	Increased serum lactate
OMIM:256000	SDHA	6389	HP:0001260	Dysarthria
OMIM:256000	SDHA	6389	HP:0003676	Progressive
OMIM:256000	SDHA	6389	HP:0000648	Optic atrophy
OMIM:256000	SDHA	6389	HP:0001332	Dystonia
OMIM:256000	SDHA	6389	HP:0003593	Infantile onset
OMIM:256000	SDHA	6389	HP:0002171	Gliosis
OMIM:256000	SDHA	6389	HP:0000602	Ophthalmoplegia
OMIM:256000	SDHA	6389	HP:0003128	Lactic acidosis
OMIM:256000	SDHA	6389	HP:0001425	Heterogeneous
OMIM:256000	SDHA	6389	HP:0001249	Intellectual disability
OMIM:256000	SDHA	6389	HP:0001347	Hyperreflexia
OMIM:256000	SDHA	6389	HP:0007305	CNS demyelination
OMIM:256000	SDHA	6389	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SDHA	6389	HP:0001290	Generalized hypotonia
OMIM:256000	SDHA	6389	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SDHA	6389	HP:0000712	Emotional lability
OMIM:256000	SDHA	6389	HP:0001263	Global developmental delay
OMIM:256000	SDHA	6389	HP:0001404	Hepatocellular necrosis
OMIM:256000	SDHA	6389	HP:0001427	Mitochondrial inheritance
OMIM:256000	SDHA	6389	HP:0001508	Failure to thrive
OMIM:256000	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SDHA	6389	HP:0000639	Nystagmus
OMIM:256000	SDHA	6389	HP:0001257	Spasticity
OMIM:256000	SDHA	6389	HP:0001250	Seizures
OMIM:256000	NDUFS7	374291	HP:0001251	Ataxia
OMIM:256000	NDUFS7	374291	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS7	374291	HP:0000486	Strabismus
OMIM:256000	NDUFS7	374291	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS7	374291	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS7	374291	HP:0000508	Ptosis
OMIM:256000	NDUFS7	374291	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS7	374291	HP:0002878	Respiratory failure
OMIM:256000	NDUFS7	374291	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS7	374291	HP:0001260	Dysarthria
OMIM:256000	NDUFS7	374291	HP:0003676	Progressive
OMIM:256000	NDUFS7	374291	HP:0000648	Optic atrophy
OMIM:256000	NDUFS7	374291	HP:0001332	Dystonia
OMIM:256000	NDUFS7	374291	HP:0003593	Infantile onset
OMIM:256000	NDUFS7	374291	HP:0002171	Gliosis
OMIM:256000	NDUFS7	374291	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS7	374291	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS7	374291	HP:0001425	Heterogeneous
OMIM:256000	NDUFS7	374291	HP:0001249	Intellectual disability
OMIM:256000	NDUFS7	374291	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS7	374291	HP:0007305	CNS demyelination
OMIM:256000	NDUFS7	374291	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS7	374291	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFS7	374291	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS7	374291	HP:0000712	Emotional lability
OMIM:256000	NDUFS7	374291	HP:0001263	Global developmental delay
OMIM:256000	NDUFS7	374291	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS7	374291	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS7	374291	HP:0001508	Failure to thrive
OMIM:256000	NDUFS7	374291	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS7	374291	HP:0000639	Nystagmus
OMIM:256000	NDUFS7	374291	HP:0001257	Spasticity
OMIM:256000	NDUFS7	374291	HP:0001250	Seizures
OMIM:256000	NDUFA2	4695	HP:0001251	Ataxia
OMIM:256000	NDUFA2	4695	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA2	4695	HP:0000486	Strabismus
OMIM:256000	NDUFA2	4695	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA2	4695	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA2	4695	HP:0000508	Ptosis
OMIM:256000	NDUFA2	4695	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA2	4695	HP:0002878	Respiratory failure
OMIM:256000	NDUFA2	4695	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA2	4695	HP:0001260	Dysarthria
OMIM:256000	NDUFA2	4695	HP:0003676	Progressive
OMIM:256000	NDUFA2	4695	HP:0000648	Optic atrophy
OMIM:256000	NDUFA2	4695	HP:0001332	Dystonia
OMIM:256000	NDUFA2	4695	HP:0003593	Infantile onset
OMIM:256000	NDUFA2	4695	HP:0002171	Gliosis
OMIM:256000	NDUFA2	4695	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA2	4695	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA2	4695	HP:0001425	Heterogeneous
OMIM:256000	NDUFA2	4695	HP:0001249	Intellectual disability
OMIM:256000	NDUFA2	4695	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA2	4695	HP:0007305	CNS demyelination
OMIM:256000	NDUFA2	4695	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA2	4695	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFA2	4695	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA2	4695	HP:0000712	Emotional lability
OMIM:256000	NDUFA2	4695	HP:0001263	Global developmental delay
OMIM:256000	NDUFA2	4695	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA2	4695	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA2	4695	HP:0001508	Failure to thrive
OMIM:256000	NDUFA2	4695	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA2	4695	HP:0000639	Nystagmus
OMIM:256000	NDUFA2	4695	HP:0001257	Spasticity
OMIM:256000	NDUFA2	4695	HP:0001250	Seizures
OMIM:256000	NDUFS8	4728	HP:0001251	Ataxia
OMIM:256000	NDUFS8	4728	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS8	4728	HP:0000486	Strabismus
OMIM:256000	NDUFS8	4728	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS8	4728	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS8	4728	HP:0000508	Ptosis
OMIM:256000	NDUFS8	4728	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS8	4728	HP:0002878	Respiratory failure
OMIM:256000	NDUFS8	4728	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS8	4728	HP:0001260	Dysarthria
OMIM:256000	NDUFS8	4728	HP:0003676	Progressive
OMIM:256000	NDUFS8	4728	HP:0000648	Optic atrophy
OMIM:256000	NDUFS8	4728	HP:0001332	Dystonia
OMIM:256000	NDUFS8	4728	HP:0003593	Infantile onset
OMIM:256000	NDUFS8	4728	HP:0002171	Gliosis
OMIM:256000	NDUFS8	4728	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS8	4728	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS8	4728	HP:0001425	Heterogeneous
OMIM:256000	NDUFS8	4728	HP:0001249	Intellectual disability
OMIM:256000	NDUFS8	4728	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS8	4728	HP:0007305	CNS demyelination
OMIM:256000	NDUFS8	4728	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS8	4728	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFS8	4728	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS8	4728	HP:0000712	Emotional lability
OMIM:256000	NDUFS8	4728	HP:0001263	Global developmental delay
OMIM:256000	NDUFS8	4728	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS8	4728	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS8	4728	HP:0001508	Failure to thrive
OMIM:256000	NDUFS8	4728	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS8	4728	HP:0000639	Nystagmus
OMIM:256000	NDUFS8	4728	HP:0001257	Spasticity
OMIM:256000	NDUFS8	4728	HP:0001250	Seizures
OMIM:256000	NDUFA12	55967	HP:0001251	Ataxia
OMIM:256000	NDUFA12	55967	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA12	55967	HP:0000486	Strabismus
OMIM:256000	NDUFA12	55967	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA12	55967	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA12	55967	HP:0000508	Ptosis
OMIM:256000	NDUFA12	55967	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA12	55967	HP:0002878	Respiratory failure
OMIM:256000	NDUFA12	55967	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA12	55967	HP:0001260	Dysarthria
OMIM:256000	NDUFA12	55967	HP:0003676	Progressive
OMIM:256000	NDUFA12	55967	HP:0000648	Optic atrophy
OMIM:256000	NDUFA12	55967	HP:0001332	Dystonia
OMIM:256000	NDUFA12	55967	HP:0003593	Infantile onset
OMIM:256000	NDUFA12	55967	HP:0002171	Gliosis
OMIM:256000	NDUFA12	55967	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA12	55967	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA12	55967	HP:0001425	Heterogeneous
OMIM:256000	NDUFA12	55967	HP:0001249	Intellectual disability
OMIM:256000	NDUFA12	55967	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA12	55967	HP:0007305	CNS demyelination
OMIM:256000	NDUFA12	55967	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA12	55967	HP:0001290	Generalized hypotonia
OMIM:256000	NDUFA12	55967	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA12	55967	HP:0000712	Emotional lability
OMIM:256000	NDUFA12	55967	HP:0001263	Global developmental delay
OMIM:256000	NDUFA12	55967	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA12	55967	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA12	55967	HP:0001508	Failure to thrive
OMIM:256000	NDUFA12	55967	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA12	55967	HP:0000639	Nystagmus
OMIM:256000	NDUFA12	55967	HP:0001257	Spasticity
OMIM:256000	NDUFA12	55967	HP:0001250	Seizures
OMIM:616470	COL12A1	1303	HP:0000218	High palate
OMIM:616470	COL12A1	1303	HP:0002751	Kyphoscoliosis
OMIM:616470	COL12A1	1303	HP:0010628	Facial palsy
OMIM:616470	COL12A1	1303	HP:0001284	Areflexia
OMIM:616470	COL12A1	1303	HP:0001371	Flexion contracture
OMIM:616470	COL12A1	1303	HP:0002093	Respiratory insufficiency
OMIM:616470	COL12A1	1303	HP:0003741	Congenital muscular dystrophy
OMIM:616470	COL12A1	1303	HP:0001382	Joint hypermobility
OMIM:616470	COL12A1	1303	HP:0001270	Motor delay
ORPHA:436174	IARS2	55699	HP:0004322	Short stature
ORPHA:436174	IARS2	55699	HP:0007470	Periarticular subcutaneous nodules
ORPHA:436174	IARS2	55699	HP:0000399	Prelingual sensorineural hearing impairment
ORPHA:436174	IARS2	55699	HP:0001270	Motor delay
ORPHA:436174	IARS2	55699	HP:0002827	Hip dislocation
ORPHA:436174	IARS2	55699	HP:0000574	Thick eyebrow
ORPHA:436174	IARS2	55699	HP:0002655	Spondyloepiphyseal dysplasia
ORPHA:436174	IARS2	55699	HP:0009830	Peripheral neuropathy
ORPHA:436174	IARS2	55699	HP:0011220	Prominent forehead
ORPHA:436174	IARS2	55699	HP:0000824	Growth hormone deficiency
ORPHA:436174	IARS2	55699	HP:0008445	Cervical spinal canal stenosis
ORPHA:436174	IARS2	55699	HP:0002571	Achalasia
ORPHA:436174	IARS2	55699	HP:0000519	Congenital cataract
ORPHA:436174	IARS2	55699	HP:0005659	Thoracic kyphoscoliosis
ORPHA:436174	IARS2	55699	HP:0003162	Fasting hypoglycemia
ORPHA:436174	IARS2	55699	HP:0000408	Progressive sensorineural hearing impairment
ORPHA:436174	IARS2	55699	HP:0002857	Genu valgum
ORPHA:436174	IARS2	55699	HP:0000160	Narrow mouth
ORPHA:436174	IARS2	55699	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:614507	DDOST	1650	HP:0001290	Generalized hypotonia
OMIM:614507	DDOST	1650	HP:0002020	Gastroesophageal reflux
OMIM:614507	DDOST	1650	HP:0000486	Strabismus
OMIM:614507	DDOST	1650	HP:0003642	Type I transferrin isoform profile
OMIM:614507	DDOST	1650	HP:0001508	Failure to thrive
OMIM:614507	DDOST	1650	HP:0000007	Autosomal recessive inheritance
OMIM:614507	DDOST	1650	HP:0002019	Constipation
OMIM:614507	DDOST	1650	HP:0410018	Recurrent ear infections
OMIM:614507	DDOST	1650	HP:0001410	Decreased liver function
OMIM:614507	DDOST	1650	HP:0001263	Global developmental delay
OMIM:614507	DDOST	1650	HP:0003593	Infantile onset
OMIM:613506	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613506	LRRC8A	56262	HP:0000218	High palate
OMIM:613506	LRRC8A	56262	HP:0000286	Epicanthus
OMIM:613506	LRRC8A	56262	HP:0000006	Autosomal dominant inheritance
OMIM:613506	LRRC8A	56262	HP:0000316	Hypertelorism
OMIM:613506	LRRC8A	56262	HP:0000369	Low-set ears
OMIM:150699	HMGA2	8091	HP:0001428	Somatic mutation
OMIM:150699	HMGA2	8091	HP:0000131	Uterine leiomyoma
OMIM:150699	HMGA2	8091	HP:0000006	Autosomal dominant inheritance
OMIM:157800	MAP3K7	6885	HP:0000582	Upslanted palpebral fissure
OMIM:157800	MAP3K7	6885	HP:0000076	Vesicoureteral reflux
OMIM:157800	MAP3K7	6885	HP:0001388	Joint laxity
OMIM:157800	MAP3K7	6885	HP:0002650	Scoliosis
OMIM:157800	MAP3K7	6885	HP:0000486	Strabismus
OMIM:157800	MAP3K7	6885	HP:0000293	Full cheeks
OMIM:157800	MAP3K7	6885	HP:0002949	Fused cervical vertebrae
OMIM:157800	MAP3K7	6885	HP:0004322	Short stature
OMIM:157800	MAP3K7	6885	HP:0001773	Short foot
OMIM:157800	MAP3K7	6885	HP:0000316	Hypertelorism
OMIM:157800	MAP3K7	6885	HP:0008734	Decreased testicular size
OMIM:157800	MAP3K7	6885	HP:0009702	Carpal synostosis
OMIM:157800	MAP3K7	6885	HP:0000506	Telecanthus
OMIM:157800	MAP3K7	6885	HP:0001156	Brachydactyly
OMIM:157800	MAP3K7	6885	HP:0000403	Recurrent otitis media
OMIM:157800	MAP3K7	6885	HP:0000164	Abnormality of the dentition
OMIM:157800	MAP3K7	6885	HP:0000902	Rib fusion
OMIM:157800	MAP3K7	6885	HP:0008368	Tarsal synostosis
OMIM:157800	MAP3K7	6885	HP:0001653	Mitral regurgitation
OMIM:157800	MAP3K7	6885	HP:0002020	Gastroesophageal reflux
OMIM:157800	MAP3K7	6885	HP:0001480	Freckling
OMIM:157800	MAP3K7	6885	HP:0000405	Conductive hearing impairment
OMIM:157800	MAP3K7	6885	HP:0008527	Congenital sensorineural hearing impairment
OMIM:157800	MAP3K7	6885	HP:0010579	Cone-shaped epiphysis
OMIM:157800	MAP3K7	6885	HP:0000343	Long philtrum
OMIM:157800	MAP3K7	6885	HP:0001508	Failure to thrive
OMIM:157800	MAP3K7	6885	HP:0010584	Pseudoepiphyses
OMIM:157800	MAP3K7	6885	HP:0000006	Autosomal dominant inheritance
OMIM:157800	MAP3K7	6885	HP:0000358	Posteriorly rotated ears
OMIM:157800	MAP3K7	6885	HP:0002750	Delayed skeletal maturation
OMIM:157800	MAP3K7	6885	HP:0000431	Wide nasal bridge
OMIM:157800	MAP3K7	6885	HP:0000463	Anteverted nares
OMIM:182250	IFIH1	64135	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:182250	IFIH1	64135	HP:0004380	Aortic valve calcification
OMIM:182250	IFIH1	64135	HP:0000706	Unerupted tooth
OMIM:182250	IFIH1	64135	HP:0000992	Cutaneous photosensitivity
OMIM:182250	IFIH1	64135	HP:0001806	Onycholysis
OMIM:182250	IFIH1	64135	HP:0000337	Broad forehead
OMIM:182250	IFIH1	64135	HP:0005303	Aortic arch calcification
OMIM:182250	IFIH1	64135	HP:0006232	Expanded metacarpals with widened medullary cavities
OMIM:182250	IFIH1	64135	HP:0009890	High anterior hairline
OMIM:182250	IFIH1	64135	HP:0004325	Decreased body weight
OMIM:182250	IFIH1	64135	HP:0001762	Talipes equinovarus
OMIM:182250	IFIH1	64135	HP:0008102	Expanded metatarsals with widened medullary cavities
OMIM:182250	IFIH1	64135	HP:0006112	Expanded phalanges with widened medullary cavities
OMIM:182250	IFIH1	64135	HP:0006386	Hypoplastic distal radial epiphyses
OMIM:182250	IFIH1	64135	HP:0000501	Glaucoma
OMIM:182250	IFIH1	64135	HP:0000939	Osteoporosis
OMIM:182250	IFIH1	64135	HP:0001635	Congestive heart failure
OMIM:182250	IFIH1	64135	HP:0006353	Hypoplasia of the tooth germ
OMIM:182250	IFIH1	64135	HP:0000545	Myopia
OMIM:182250	IFIH1	64135	HP:0003182	Shallow acetabular fossae
OMIM:182250	IFIH1	64135	HP:0000327	Hypoplasia of the maxilla
OMIM:182250	IFIH1	64135	HP:0000006	Autosomal dominant inheritance
OMIM:182250	IFIH1	64135	HP:0001290	Generalized hypotonia
OMIM:182250	IFIH1	64135	HP:0002827	Hip dislocation
OMIM:182250	IFIH1	64135	HP:0004382	Mitral valve calcification
OMIM:182250	IFIH1	64135	HP:0001324	Muscle weakness
OMIM:182250	IFIH1	64135	HP:0001761	Pes cavus
OMIM:182250	IFIH1	64135	HP:0000670	Carious teeth
OMIM:182250	IFIH1	64135	HP:0002205	Recurrent respiratory infections
OMIM:182250	IFIH1	64135	HP:0100550	Tendon rupture
OMIM:182250	IFIH1	64135	HP:0002515	Waddling gait
OMIM:182250	IFIH1	64135	HP:0002857	Genu valgum
OMIM:182250	IFIH1	64135	HP:0004322	Short stature
OMIM:182250	IFIH1	64135	HP:0001650	Aortic valve stenosis
OMIM:182250	IFIH1	64135	HP:0030043	Hip subluxation
OMIM:182250	IFIH1	64135	HP:0002673	Coxa valga
OMIM:182250	IFIH1	64135	HP:0001682	Subvalvular aortic stenosis
OMIM:182250	IFIH1	64135	HP:0000319	Smooth philtrum
OMIM:182250	IFIH1	64135	HP:0001640	Cardiomegaly
OMIM:263210	ALG9	79796	HP:0001405	Periportal fibrosis
OMIM:263210	ALG9	79796	HP:0002089	Pulmonary hypoplasia
OMIM:263210	ALG9	79796	HP:0000347	Micrognathia
OMIM:263210	ALG9	79796	HP:0003026	Short long bone
OMIM:263210	ALG9	79796	HP:0000113	Polycystic kidney dysplasia
OMIM:263210	ALG9	79796	HP:0000430	Underdeveloped nasal alae
OMIM:263210	ALG9	79796	HP:0002101	Abnormal lung lobation
OMIM:263210	ALG9	79796	HP:0003577	Congenital onset
OMIM:263210	ALG9	79796	HP:0000470	Short neck
OMIM:263210	ALG9	79796	HP:0000506	Telecanthus
OMIM:263210	ALG9	79796	HP:0000776	Congenital diaphragmatic hernia
OMIM:263210	ALG9	79796	HP:0001371	Flexion contracture
OMIM:263210	ALG9	79796	HP:0000358	Posteriorly rotated ears
OMIM:263210	ALG9	79796	HP:0000252	Microcephaly
OMIM:263210	ALG9	79796	HP:0000319	Smooth philtrum
OMIM:263210	ALG9	79796	HP:0009487	Ulnar deviation of the hand
OMIM:263210	ALG9	79796	HP:0002265	Large fleshy ears
OMIM:263210	ALG9	79796	HP:0002652	Skeletal dysplasia
OMIM:263210	ALG9	79796	HP:0000278	Retrognathia
OMIM:263210	ALG9	79796	HP:0000316	Hypertelorism
OMIM:263210	ALG9	79796	HP:0000369	Low-set ears
OMIM:263210	ALG9	79796	HP:0000444	Convex nasal ridge
OMIM:263210	ALG9	79796	HP:0000007	Autosomal recessive inheritance
OMIM:263210	ALG9	79796	HP:0000248	Brachycephaly
OMIM:263210	ALG9	79796	HP:0001627	Abnormal heart morphology
OMIM:212070	CPN1	1369	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212070	CPN1	1369	HP:0000951	Abnormality of the skin
OMIM:212070	CPN1	1369	HP:0000007	Autosomal recessive inheritance
OMIM:615577	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:615577	NFKB2	4791	HP:0000006	Autosomal dominant inheritance
OMIM:615577	NFKB2	4791	HP:0011734	Central adrenal insufficiency
OMIM:615577	NFKB2	4791	HP:0002205	Recurrent respiratory infections
OMIM:615577	NFKB2	4791	HP:0003828	Variable expressivity
OMIM:615577	NFKB2	4791	HP:0002099	Asthma
OMIM:615577	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:614651	PDSS1	23590	HP:0000007	Autosomal recessive inheritance
OMIM:614651	PDSS1	23590	HP:0001513	Obesity
OMIM:614651	PDSS1	23590	HP:0009830	Peripheral neuropathy
OMIM:614651	PDSS1	23590	HP:0000965	Cutis marmorata
OMIM:614651	PDSS1	23590	HP:0001284	Areflexia
OMIM:614651	PDSS1	23590	HP:0001653	Mitral regurgitation
OMIM:614651	PDSS1	23590	HP:0002092	Pulmonary arterial hypertension
OMIM:614651	PDSS1	23590	HP:0002151	Increased serum lactate
OMIM:614651	PDSS1	23590	HP:0001659	Aortic regurgitation
OMIM:614651	PDSS1	23590	HP:0000256	Macrocephaly
OMIM:614651	PDSS1	23590	HP:0001256	Intellectual disability, mild
OMIM:614651	PDSS1	23590	HP:0000648	Optic atrophy
ORPHA:263458	INSR	3643	HP:0012378	Fatigue
ORPHA:263458	INSR	3643	HP:0001250	Seizures
ORPHA:263458	INSR	3643	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:263458	INSR	3643	HP:0008283	Fasting hyperinsulinemia
ORPHA:263458	INSR	3643	HP:0030794	Abnormal C-peptide level
ORPHA:263458	INSR	3643	HP:0001988	Recurrent hypoglycemia
OMIM:256600	PLA2G6	8398	HP:0002171	Gliosis
OMIM:256600	PLA2G6	8398	HP:0000572	Visual loss
OMIM:256600	PLA2G6	8398	HP:0001272	Cerebellar atrophy
OMIM:256600	PLA2G6	8398	HP:0000486	Strabismus
OMIM:256600	PLA2G6	8398	HP:0000649	Abnormality of visual evoked potentials
OMIM:256600	PLA2G6	8398	HP:0002529	Neuronal loss in central nervous system
OMIM:256600	PLA2G6	8398	HP:0003444	EMG: chronic denervation signs
OMIM:256600	PLA2G6	8398	HP:0007256	Abnormal pyramidal signs
OMIM:256600	PLA2G6	8398	HP:0002059	Cerebral atrophy
OMIM:256600	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:256600	PLA2G6	8398	HP:0001251	Ataxia
OMIM:256600	PLA2G6	8398	HP:0002007	Frontal bossing
OMIM:256600	PLA2G6	8398	HP:0001290	Generalized hypotonia
OMIM:256600	PLA2G6	8398	HP:0002180	Neurodegeneration
OMIM:256600	PLA2G6	8398	HP:0002317	Unsteady gait
OMIM:256600	PLA2G6	8398	HP:0000648	Optic atrophy
OMIM:256600	PLA2G6	8398	HP:0001347	Hyperreflexia
OMIM:256600	PLA2G6	8398	HP:0000347	Micrognathia
OMIM:256600	PLA2G6	8398	HP:0001249	Intellectual disability
OMIM:256600	PLA2G6	8398	HP:0002510	Spastic tetraplegia
OMIM:256600	PLA2G6	8398	HP:0003593	Infantile onset
OMIM:256600	PLA2G6	8398	HP:0001250	Seizures
OMIM:256600	PLA2G6	8398	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256600	PLA2G6	8398	HP:0001263	Global developmental delay
OMIM:256600	PLA2G6	8398	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:256600	PLA2G6	8398	HP:0003324	Generalized muscle weakness
OMIM:256600	PLA2G6	8398	HP:0003196	Short nose
OMIM:256600	PLA2G6	8398	HP:0002376	Developmental regression
OMIM:256600	PLA2G6	8398	HP:0000365	Hearing impairment
OMIM:256600	PLA2G6	8398	HP:0011220	Prominent forehead
OMIM:256600	PLA2G6	8398	HP:0000639	Nystagmus
OMIM:616687	VCP	7415	HP:0001761	Pes cavus
OMIM:616687	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:616687	VCP	7415	HP:0003676	Progressive
OMIM:616687	VCP	7415	HP:0001765	Hammertoe
OMIM:616687	VCP	7415	HP:0003828	Variable expressivity
OMIM:616687	VCP	7415	HP:0002936	Distal sensory impairment
OMIM:614672	GATAD1	57798	HP:0000007	Autosomal recessive inheritance
OMIM:614672	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:614672	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613575	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:602093	GUCA1A	2978	HP:0000613	Photophobia
OMIM:602093	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:602093	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:602093	GUCA1A	2978	HP:0000529	Progressive visual loss
OMIM:602093	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:614929	KRT74	121391	HP:0002299	Brittle hair
OMIM:614929	KRT74	121391	HP:0000535	Sparse and thin eyebrow
OMIM:614929	KRT74	121391	HP:0008391	Dystrophic fingernails
OMIM:614929	KRT74	121391	HP:0000653	Sparse eyelashes
OMIM:614929	KRT74	121391	HP:0001806	Onycholysis
OMIM:614929	KRT74	121391	HP:0007436	Hair-nail ectodermal dysplasia
OMIM:614929	KRT74	121391	HP:0001810	Dystrophic toenail
OMIM:614929	KRT74	121391	HP:0001006	Hypotrichosis
OMIM:614929	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:260350	KRAS	3845	HP:0001428	Somatic mutation
OMIM:260350	KRAS	3845	HP:0002894	Neoplasm of the pancreas
OMIM:260350	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:260350	TP53	7157	HP:0001428	Somatic mutation
OMIM:260350	TP53	7157	HP:0002894	Neoplasm of the pancreas
OMIM:260350	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:260350	SMAD4	4089	HP:0001428	Somatic mutation
OMIM:260350	SMAD4	4089	HP:0002894	Neoplasm of the pancreas
OMIM:260350	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:260350	STK11	6794	HP:0001428	Somatic mutation
OMIM:260350	STK11	6794	HP:0002894	Neoplasm of the pancreas
OMIM:260350	STK11	6794	HP:0000006	Autosomal dominant inheritance
OMIM:602080	SQSTM1	8878	HP:0002423	Long-tract signs
OMIM:602080	SQSTM1	8878	HP:0003676	Progressive
OMIM:602080	SQSTM1	8878	HP:0006824	Cranial nerve paralysis
OMIM:602080	SQSTM1	8878	HP:0001425	Heterogeneous
OMIM:602080	SQSTM1	8878	HP:0003084	Fractures of the long bones
OMIM:602080	SQSTM1	8878	HP:0003828	Variable expressivity
OMIM:602080	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:602080	SQSTM1	8878	HP:0002653	Bone pain
OMIM:602080	SQSTM1	8878	HP:0002512	Brain stem compression
OMIM:602080	SQSTM1	8878	HP:0002659	Increased susceptibility to fractures
OMIM:602080	SQSTM1	8878	HP:0002273	Tetraparesis
OMIM:602080	SQSTM1	8878	HP:0003080	Hydroxyprolinuria
OMIM:602080	SQSTM1	8878	HP:0002953	Vertebral compression fractures
OMIM:602080	SQSTM1	8878	HP:0002385	Paraparesis
OMIM:602080	SQSTM1	8878	HP:0003155	Elevated alkaline phosphatase
OMIM:602080	SQSTM1	8878	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:602080	SQSTM1	8878	HP:0002797	Osteolysis
OMIM:602080	SQSTM1	8878	HP:0006480	Premature loss of teeth
OMIM:615073	GNAL	2774	HP:0000006	Autosomal dominant inheritance
OMIM:615073	GNAL	2774	HP:0031008	Lingual dystonia
OMIM:615073	GNAL	2774	HP:0002451	Limb dystonia
OMIM:615073	GNAL	2774	HP:0012049	Laryngeal dystonia
OMIM:615073	GNAL	2774	HP:0000473	Torticollis
ORPHA:65759	MEGF8	1954	HP:0001249	Intellectual disability
ORPHA:65759	MEGF8	1954	HP:0001162	Postaxial hand polydactyly
ORPHA:65759	MEGF8	1954	HP:0011304	Broad thumb
ORPHA:65759	MEGF8	1954	HP:0002676	Cloverleaf skull
ORPHA:65759	MEGF8	1954	HP:0003241	External genital hypoplasia
ORPHA:65759	MEGF8	1954	HP:0000028	Cryptorchidism
ORPHA:65759	MEGF8	1954	HP:0000481	Abnormality of the cornea
ORPHA:65759	MEGF8	1954	HP:0006101	Finger syndactyly
ORPHA:65759	MEGF8	1954	HP:0001513	Obesity
ORPHA:65759	MEGF8	1954	HP:0001841	Preaxial foot polydactyly
ORPHA:65759	MEGF8	1954	HP:0001363	Craniosynostosis
ORPHA:65759	MEGF8	1954	HP:0000263	Oxycephaly
ORPHA:65759	MEGF8	1954	HP:0002857	Genu valgum
ORPHA:65759	MEGF8	1954	HP:0001770	Toe syndactyly
ORPHA:65759	MEGF8	1954	HP:0001156	Brachydactyly
ORPHA:65759	RAB23	51715	HP:0001249	Intellectual disability
ORPHA:65759	RAB23	51715	HP:0001162	Postaxial hand polydactyly
ORPHA:65759	RAB23	51715	HP:0011304	Broad thumb
ORPHA:65759	RAB23	51715	HP:0002676	Cloverleaf skull
ORPHA:65759	RAB23	51715	HP:0003241	External genital hypoplasia
ORPHA:65759	RAB23	51715	HP:0000028	Cryptorchidism
ORPHA:65759	RAB23	51715	HP:0000481	Abnormality of the cornea
ORPHA:65759	RAB23	51715	HP:0006101	Finger syndactyly
ORPHA:65759	RAB23	51715	HP:0001513	Obesity
ORPHA:65759	RAB23	51715	HP:0001841	Preaxial foot polydactyly
ORPHA:65759	RAB23	51715	HP:0001363	Craniosynostosis
ORPHA:65759	RAB23	51715	HP:0000263	Oxycephaly
ORPHA:65759	RAB23	51715	HP:0002857	Genu valgum
ORPHA:65759	RAB23	51715	HP:0001770	Toe syndactyly
ORPHA:65759	RAB23	51715	HP:0001156	Brachydactyly
OMIM:616170	MFSD8	256471	HP:0000505	Visual impairment
OMIM:616170	MFSD8	256471	HP:0007754	Macular dystrophy
OMIM:616170	MFSD8	256471	HP:0000007	Autosomal recessive inheritance
OMIM:616170	MFSD8	256471	HP:0007663	Reduced visual acuity
OMIM:614181	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:614181	MAK	4117	HP:0000543	Optic disc pallor
OMIM:614181	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:614181	MAK	4117	HP:0000662	Nyctalopia
OMIM:614181	MAK	4117	HP:0001123	Visual field defect
ORPHA:39044	CYSLTR2	57105	HP:0012054	Choroidal melanoma
ORPHA:39044	CYSLTR2	57105	HP:0000541	Retinal detachment
ORPHA:39044	CYSLTR2	57105	HP:0000572	Visual loss
ORPHA:39044	CYSLTR2	57105	HP:0011524	Iris melanoma
ORPHA:39044	CYSLTR2	57105	HP:0012055	Ciliary body melanoma
ORPHA:39044	GNAQ	2776	HP:0012054	Choroidal melanoma
ORPHA:39044	GNAQ	2776	HP:0000541	Retinal detachment
ORPHA:39044	GNAQ	2776	HP:0000572	Visual loss
ORPHA:39044	GNAQ	2776	HP:0011524	Iris melanoma
ORPHA:39044	GNAQ	2776	HP:0012055	Ciliary body melanoma
ORPHA:39044	BAP1	8314	HP:0012054	Choroidal melanoma
ORPHA:39044	BAP1	8314	HP:0000541	Retinal detachment
ORPHA:39044	BAP1	8314	HP:0000572	Visual loss
ORPHA:39044	BAP1	8314	HP:0011524	Iris melanoma
ORPHA:39044	BAP1	8314	HP:0012055	Ciliary body melanoma
ORPHA:39044	SF3B1	23451	HP:0012054	Choroidal melanoma
ORPHA:39044	SF3B1	23451	HP:0000541	Retinal detachment
ORPHA:39044	SF3B1	23451	HP:0000572	Visual loss
ORPHA:39044	SF3B1	23451	HP:0011524	Iris melanoma
ORPHA:39044	SF3B1	23451	HP:0012055	Ciliary body melanoma
ORPHA:39044	GNA11	2767	HP:0012054	Choroidal melanoma
ORPHA:39044	GNA11	2767	HP:0000541	Retinal detachment
ORPHA:39044	GNA11	2767	HP:0000572	Visual loss
ORPHA:39044	GNA11	2767	HP:0011524	Iris melanoma
ORPHA:39044	GNA11	2767	HP:0012055	Ciliary body melanoma
OMIM:607823	SOX18	54345	HP:0000006	Autosomal dominant inheritance
OMIM:607823	SOX18	54345	HP:0002223	Absent eyebrow
OMIM:607823	SOX18	54345	HP:0001596	Alopecia
OMIM:607823	SOX18	54345	HP:0003550	Predominantly lower limb lymphedema
OMIM:607823	SOX18	54345	HP:0100540	Palpebral edema
OMIM:607823	SOX18	54345	HP:0000034	Hydrocele testis
OMIM:607823	SOX18	54345	HP:0100869	Palmar telangiectasia
OMIM:607823	SOX18	54345	HP:0000963	Thin skin
OMIM:607823	SOX18	54345	HP:0000007	Autosomal recessive inheritance
OMIM:607823	SOX18	54345	HP:0001006	Hypotrichosis
OMIM:607823	SOX18	54345	HP:0001790	Nonimmune hydrops fetalis
OMIM:607823	SOX18	54345	HP:0000164	Abnormality of the dentition
OMIM:607823	SOX18	54345	HP:0001597	Abnormality of the nail
OMIM:607823	SOX18	54345	HP:0000561	Absent eyelashes
OMIM:613554	VWF	7450	HP:0000421	Epistaxis
OMIM:613554	VWF	7450	HP:0000007	Autosomal recessive inheritance
OMIM:613554	VWF	7450	HP:0000132	Menorrhagia
OMIM:613554	VWF	7450	HP:0000006	Autosomal dominant inheritance
OMIM:613554	VWF	7450	HP:0003828	Variable expressivity
OMIM:613554	VWF	7450	HP:0000978	Bruising susceptibility
ORPHA:79506	APOC3	345	HP:0003124	Hypercholesterolemia
ORPHA:79506	APOC3	345	HP:0012153	Hypotriglyceridemia
ORPHA:79506	APOC3	345	HP:0012184	Increased circulating high-density lipoprotein levels
ORPHA:79506	APOC3	345	HP:0003077	Hyperlipidemia
ORPHA:79506	CETP	1071	HP:0003124	Hypercholesterolemia
ORPHA:79506	CETP	1071	HP:0012153	Hypotriglyceridemia
ORPHA:79506	CETP	1071	HP:0012184	Increased circulating high-density lipoprotein levels
ORPHA:79506	CETP	1071	HP:0003077	Hyperlipidemia
OMIM:178500	TERT	7015	HP:0001394	Cirrhosis
OMIM:178500	TERT	7015	HP:0002875	Exertional dyspnea
OMIM:178500	TERT	7015	HP:0006519	Alveolar cell carcinoma
OMIM:178500	TERT	7015	HP:0010702	Increased antibody level in blood
OMIM:178500	TERT	7015	HP:0002090	Pneumonia
OMIM:178500	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:178500	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:178500	TERT	7015	HP:0002092	Pulmonary arterial hypertension
OMIM:178500	SFTPC	6440	HP:0001394	Cirrhosis
OMIM:178500	SFTPC	6440	HP:0002875	Exertional dyspnea
OMIM:178500	SFTPC	6440	HP:0006519	Alveolar cell carcinoma
OMIM:178500	SFTPC	6440	HP:0010702	Increased antibody level in blood
OMIM:178500	SFTPC	6440	HP:0002090	Pneumonia
OMIM:178500	SFTPC	6440	HP:0002206	Pulmonary fibrosis
OMIM:178500	SFTPC	6440	HP:0000006	Autosomal dominant inheritance
OMIM:178500	SFTPC	6440	HP:0002092	Pulmonary arterial hypertension
OMIM:178500	SFTPA2	729238	HP:0001394	Cirrhosis
OMIM:178500	SFTPA2	729238	HP:0002875	Exertional dyspnea
OMIM:178500	SFTPA2	729238	HP:0006519	Alveolar cell carcinoma
OMIM:178500	SFTPA2	729238	HP:0010702	Increased antibody level in blood
OMIM:178500	SFTPA2	729238	HP:0002090	Pneumonia
OMIM:178500	SFTPA2	729238	HP:0002206	Pulmonary fibrosis
OMIM:178500	SFTPA2	729238	HP:0000006	Autosomal dominant inheritance
OMIM:178500	SFTPA2	729238	HP:0002092	Pulmonary arterial hypertension
OMIM:219080	GNAS	2778	HP:0002808	Kyphosis
OMIM:219080	GNAS	2778	HP:0000822	Hypertension
OMIM:219080	GNAS	2778	HP:0002664	Neoplasm
OMIM:219080	GNAS	2778	HP:0001065	Striae distensae
OMIM:219080	GNAS	2778	HP:0001268	Mental deterioration
OMIM:219080	GNAS	2778	HP:0001575	Mood changes
OMIM:219080	GNAS	2778	HP:0000311	Round face
OMIM:219080	GNAS	2778	HP:0000938	Osteopenia
OMIM:219080	GNAS	2778	HP:0003581	Adult onset
OMIM:219080	GNAS	2778	HP:0000709	Psychosis
OMIM:219080	GNAS	2778	HP:0001579	Primary hypercorticolism
OMIM:219080	GNAS	2778	HP:0000713	Agitation
OMIM:219080	GNAS	2778	HP:0008231	Macronodular adrenal hyperplasia
OMIM:219080	GNAS	2778	HP:0000963	Thin skin
OMIM:219080	GNAS	2778	HP:0003202	Skeletal muscle atrophy
OMIM:219080	GNAS	2778	HP:0002920	Decreased circulating ACTH level
OMIM:219080	GNAS	2778	HP:0000716	Depressivity
OMIM:219080	GNAS	2778	HP:0001956	Truncal obesity
OMIM:219080	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:219080	GNAS	2778	HP:0000739	Anxiety
OMIM:219080	GNAS	2778	HP:0000939	Osteoporosis
OMIM:219080	GNAS	2778	HP:0000978	Bruising susceptibility
OMIM:219080	GNAS	2778	HP:0003745	Sporadic
OMIM:129200	SMARCAD1	56916	HP:0001056	Milia
OMIM:129200	SMARCAD1	56916	HP:0001371	Flexion contracture
OMIM:129200	SMARCAD1	56916	HP:0000954	Single transverse palmar crease
OMIM:129200	SMARCAD1	56916	HP:0000006	Autosomal dominant inheritance
OMIM:129200	SMARCAD1	56916	HP:0001182	Tapered finger
OMIM:129200	SMARCAD1	56916	HP:0025092	Epidermal acanthosis
OMIM:129200	SMARCAD1	56916	HP:0000968	Ectodermal dysplasia
OMIM:129200	SMARCAD1	56916	HP:0007455	Adermatoglyphia
OMIM:194072	WT1	7490	HP:0000028	Cryptorchidism
OMIM:194072	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194072	WT1	7490	HP:0000526	Aniridia
OMIM:194072	WT1	7490	HP:0001249	Intellectual disability
OMIM:194072	WT1	7490	HP:0000047	Hypospadias
OMIM:194072	WT1	7490	HP:0001428	Somatic mutation
OMIM:194072	WT1	7490	HP:0002667	Nephroblastoma
OMIM:194072	WT1	7490	HP:0010464	Streak ovary
OMIM:194072	WT1	7490	HP:0000142	Abnormality of the vagina
OMIM:194072	WT1	7490	HP:0001466	Contiguous gene syndrome
OMIM:194072	PAX6	5080	HP:0000028	Cryptorchidism
OMIM:194072	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:194072	PAX6	5080	HP:0000526	Aniridia
OMIM:194072	PAX6	5080	HP:0001249	Intellectual disability
OMIM:194072	PAX6	5080	HP:0000047	Hypospadias
OMIM:194072	PAX6	5080	HP:0001428	Somatic mutation
OMIM:194072	PAX6	5080	HP:0002667	Nephroblastoma
OMIM:194072	PAX6	5080	HP:0010464	Streak ovary
OMIM:194072	PAX6	5080	HP:0000142	Abnormality of the vagina
OMIM:194072	PAX6	5080	HP:0001466	Contiguous gene syndrome
OMIM:256300	NPHS1	4868	HP:0003075	Hypoproteinemia
OMIM:256300	NPHS1	4868	HP:0001967	Diffuse mesangial sclerosis
OMIM:256300	NPHS1	4868	HP:0002020	Gastroesophageal reflux
OMIM:256300	NPHS1	4868	HP:0003077	Hyperlipidemia
OMIM:256300	NPHS1	4868	HP:0003678	Rapidly progressive
OMIM:256300	NPHS1	4868	HP:0002643	Neonatal respiratory distress
OMIM:256300	NPHS1	4868	HP:0002021	Pyloric stenosis
OMIM:256300	NPHS1	4868	HP:0000083	Renal insufficiency
OMIM:256300	NPHS1	4868	HP:0001518	Small for gestational age
OMIM:256300	NPHS1	4868	HP:0000092	Tubular atrophy
OMIM:256300	NPHS1	4868	HP:0003073	Hypoalbuminemia
OMIM:256300	NPHS1	4868	HP:0000969	Edema
OMIM:256300	NPHS1	4868	HP:0000007	Autosomal recessive inheritance
OMIM:256300	NPHS1	4868	HP:0000821	Hypothyroidism
OMIM:256300	NPHS1	4868	HP:0002719	Recurrent infections
OMIM:256300	NPHS1	4868	HP:0003577	Congenital onset
OMIM:256300	NPHS1	4868	HP:0008677	Congenital nephrotic syndrome
OMIM:256300	NPHS1	4868	HP:0000093	Proteinuria
OMIM:256300	NPHS1	4868	HP:0001510	Growth delay
OMIM:256300	NPHS1	4868	HP:0003270	Abdominal distention
ORPHA:79322	DPM1	8813	HP:0000504	Abnormality of vision
ORPHA:79322	DPM1	8813	HP:0001250	Seizures
ORPHA:79322	DPM1	8813	HP:0000252	Microcephaly
ORPHA:79322	DPM1	8813	HP:0001252	Muscular hypotonia
ORPHA:79322	DPM1	8813	HP:0011344	Severe global developmental delay
OMIM:301835	PRPS1	5631	HP:0000639	Nystagmus
OMIM:301835	PRPS1	5631	HP:0009830	Peripheral neuropathy
OMIM:301835	PRPS1	5631	HP:0001344	Absent speech
OMIM:301835	PRPS1	5631	HP:0002307	Drooling
OMIM:301835	PRPS1	5631	HP:0002445	Tetraplegia
OMIM:301835	PRPS1	5631	HP:0001263	Global developmental delay
OMIM:301835	PRPS1	5631	HP:0002719	Recurrent infections
OMIM:301835	PRPS1	5631	HP:0000572	Visual loss
OMIM:301835	PRPS1	5631	HP:0001251	Ataxia
OMIM:301835	PRPS1	5631	HP:0001319	Neonatal hypotonia
OMIM:301835	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:301835	PRPS1	5631	HP:0002015	Dysphagia
OMIM:301835	PRPS1	5631	HP:0001250	Seizures
OMIM:301835	PRPS1	5631	HP:0002721	Immunodeficiency
OMIM:301835	PRPS1	5631	HP:0001284	Areflexia
OMIM:301835	PRPS1	5631	HP:0001522	Death in infancy
OMIM:301835	PRPS1	5631	HP:0002788	Recurrent upper respiratory tract infections
OMIM:301835	PRPS1	5631	HP:0008311	Spinal cord posterior columns myelin loss
OMIM:301835	PRPS1	5631	HP:0001249	Intellectual disability
OMIM:301835	PRPS1	5631	HP:0000648	Optic atrophy
OMIM:301835	PRPS1	5631	HP:0003323	Progressive muscle weakness
OMIM:301835	PRPS1	5631	HP:0000365	Hearing impairment
OMIM:301835	PRPS1	5631	HP:0001510	Growth delay
OMIM:603285	PDCD10	11235	HP:0002060	Abnormality of the cerebrum
OMIM:603285	PDCD10	11235	HP:0002315	Headache
OMIM:603285	PDCD10	11235	HP:0001250	Seizures
OMIM:603285	PDCD10	11235	HP:0003470	Paralysis
OMIM:603285	PDCD10	11235	HP:0001342	Cerebral hemorrhage
ORPHA:745	PROC	5624	HP:0000963	Thin skin
ORPHA:745	PROC	5624	HP:0000979	Purpura
ORPHA:745	PROC	5624	HP:0004936	Venous thrombosis
OMIM:612370	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:612370	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	CHD7	55636	HP:0000175	Cleft palate
OMIM:612370	CHD7	55636	HP:0000407	Sensorineural hearing impairment
OMIM:612370	CHD7	55636	HP:0410030	Cleft lip
OMIM:612370	CHD7	55636	HP:0000458	Anosmia
OMIM:612370	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:608224	P2RX2	22953	HP:0000360	Tinnitus
OMIM:608224	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:608224	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:608224	P2RX2	22953	HP:0000408	Progressive sensorineural hearing impairment
OMIM:228000	ASAH1	427	HP:0003676	Progressive
OMIM:228000	ASAH1	427	HP:0000737	Irritability
OMIM:228000	ASAH1	427	HP:0001249	Intellectual disability
OMIM:228000	ASAH1	427	HP:0003828	Variable expressivity
OMIM:228000	ASAH1	427	HP:0040139	Lipogranulomatosis
OMIM:228000	ASAH1	427	HP:0001369	Arthritis
OMIM:228000	ASAH1	427	HP:0007470	Periarticular subcutaneous nodules
OMIM:228000	ASAH1	427	HP:0001386	Joint swelling
OMIM:228000	ASAH1	427	HP:0002093	Respiratory insufficiency
OMIM:228000	ASAH1	427	HP:0001270	Motor delay
OMIM:228000	ASAH1	427	HP:0001615	Hoarse cry
OMIM:228000	ASAH1	427	HP:0001744	Splenomegaly
OMIM:228000	ASAH1	427	HP:0002240	Hepatomegaly
OMIM:228000	ASAH1	427	HP:0001508	Failure to thrive
OMIM:228000	ASAH1	427	HP:0000007	Autosomal recessive inheritance
OMIM:228000	ASAH1	427	HP:0010729	Cherry red spot of the macula
ORPHA:573	KRT83	3889	HP:0001006	Hypotrichosis
ORPHA:573	KRT83	3889	HP:0002232	Patchy alopecia
ORPHA:573	KRT83	3889	HP:0002213	Fine hair
ORPHA:573	KRT83	3889	HP:0000499	Abnormality of the eyelashes
ORPHA:573	KRT83	3889	HP:0000534	Abnormality of the eyebrow
ORPHA:573	KRT83	3889	HP:0002217	Slow-growing hair
ORPHA:573	KRT83	3889	HP:0007502	Follicular hyperkeratosis
ORPHA:573	KRT83	3889	HP:0001597	Abnormality of the nail
ORPHA:573	KRT83	3889	HP:0002299	Brittle hair
ORPHA:573	DSG4	147409	HP:0001006	Hypotrichosis
ORPHA:573	DSG4	147409	HP:0002232	Patchy alopecia
ORPHA:573	DSG4	147409	HP:0002213	Fine hair
ORPHA:573	DSG4	147409	HP:0000499	Abnormality of the eyelashes
ORPHA:573	DSG4	147409	HP:0000534	Abnormality of the eyebrow
ORPHA:573	DSG4	147409	HP:0002217	Slow-growing hair
ORPHA:573	DSG4	147409	HP:0007502	Follicular hyperkeratosis
ORPHA:573	DSG4	147409	HP:0001597	Abnormality of the nail
ORPHA:573	DSG4	147409	HP:0002299	Brittle hair
ORPHA:573	KRT86	3892	HP:0001006	Hypotrichosis
ORPHA:573	KRT86	3892	HP:0002232	Patchy alopecia
ORPHA:573	KRT86	3892	HP:0002213	Fine hair
ORPHA:573	KRT86	3892	HP:0000499	Abnormality of the eyelashes
ORPHA:573	KRT86	3892	HP:0000534	Abnormality of the eyebrow
ORPHA:573	KRT86	3892	HP:0002217	Slow-growing hair
ORPHA:573	KRT86	3892	HP:0007502	Follicular hyperkeratosis
ORPHA:573	KRT86	3892	HP:0001597	Abnormality of the nail
ORPHA:573	KRT86	3892	HP:0002299	Brittle hair
ORPHA:573	KRT81	3887	HP:0001006	Hypotrichosis
ORPHA:573	KRT81	3887	HP:0002232	Patchy alopecia
ORPHA:573	KRT81	3887	HP:0002213	Fine hair
ORPHA:573	KRT81	3887	HP:0000499	Abnormality of the eyelashes
ORPHA:573	KRT81	3887	HP:0000534	Abnormality of the eyebrow
ORPHA:573	KRT81	3887	HP:0002217	Slow-growing hair
ORPHA:573	KRT81	3887	HP:0007502	Follicular hyperkeratosis
ORPHA:573	KRT81	3887	HP:0001597	Abnormality of the nail
ORPHA:573	KRT81	3887	HP:0002299	Brittle hair
OMIM:614889	IFNGR2	3460	HP:0011274	Recurrent mycobacterial infections
OMIM:614889	IFNGR2	3460	HP:0000007	Autosomal recessive inheritance
OMIM:614889	IFNGR2	3460	HP:0002721	Immunodeficiency
OMIM:614916	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:614916	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:614916	CALM1	801	HP:0001695	Cardiac arrest
OMIM:614916	CALM1	801	HP:0001699	Sudden death
OMIM:614916	CALM1	801	HP:0002321	Vertigo
OMIM:614916	CALM1	801	HP:0001279	Syncope
OMIM:609560	TK2	7084	HP:0001250	Seizures
OMIM:609560	TK2	7084	HP:0003355	Aminoaciduria
OMIM:609560	TK2	7084	HP:0002194	Delayed gross motor development
OMIM:609560	TK2	7084	HP:0006887	Intellectual disability, progressive
OMIM:609560	TK2	7084	HP:0000737	Irritability
OMIM:609560	TK2	7084	HP:0003128	Lactic acidosis
OMIM:609560	TK2	7084	HP:0003828	Variable expressivity
OMIM:609560	TK2	7084	HP:0002134	Abnormality of the basal ganglia
OMIM:609560	TK2	7084	HP:0003391	Gowers sign
OMIM:609560	TK2	7084	HP:0002059	Cerebral atrophy
OMIM:609560	TK2	7084	HP:0003593	Infantile onset
OMIM:609560	TK2	7084	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:609560	TK2	7084	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609560	TK2	7084	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
OMIM:609560	TK2	7084	HP:0001349	Facial diplegia
OMIM:609560	TK2	7084	HP:0000007	Autosomal recessive inheritance
OMIM:609560	TK2	7084	HP:0003200	Ragged-red muscle fibers
OMIM:609560	TK2	7084	HP:0001290	Generalized hypotonia
OMIM:609560	TK2	7084	HP:0003458	EMG: myopathic abnormalities
OMIM:609560	TK2	7084	HP:0008945	Loss of ability to walk in early childhood
OMIM:609560	TK2	7084	HP:0003690	Limb muscle weakness
OMIM:609560	TK2	7084	HP:0000365	Hearing impairment
OMIM:609560	TK2	7084	HP:0003700	Generalized amyotrophy
OMIM:609560	TK2	7084	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:609560	TK2	7084	HP:0003676	Progressive
OMIM:174700	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:174700	GLI3	2737	HP:0000363	Abnormality of earlobe
OMIM:174700	GLI3	2737	HP:0005688	Dysplastic distal thumb phalanges with a central hole
OMIM:174700	GLI3	2737	HP:0006097	3-4 finger syndactyly
OMIM:174700	GLI3	2737	HP:0100258	Preaxial polydactyly
OMIM:174700	GLI3	2737	HP:0010713	1-5 toe syndactyly
OMIM:123000	ANKH	56172	HP:0000256	Macrocephaly
OMIM:123000	ANKH	56172	HP:0006384	Club-shaped distal femur
OMIM:123000	ANKH	56172	HP:0000925	Abnormality of the vertebral column
OMIM:123000	ANKH	56172	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:123000	ANKH	56172	HP:0003016	Metaphyseal widening
OMIM:123000	ANKH	56172	HP:0010628	Facial palsy
OMIM:123000	ANKH	56172	HP:0004407	Bony paranasal bossing
OMIM:123000	ANKH	56172	HP:0000692	Misalignment of teeth
OMIM:123000	ANKH	56172	HP:0004975	Erlenmeyer flask deformity of the femurs
OMIM:123000	ANKH	56172	HP:0000410	Mixed hearing impairment
OMIM:123000	ANKH	56172	HP:0001742	Nasal obstruction
OMIM:123000	ANKH	56172	HP:0000006	Autosomal dominant inheritance
OMIM:123000	ANKH	56172	HP:0001739	Abnormality of the nasopharynx
OMIM:123000	ANKH	56172	HP:0000303	Mandibular prognathia
OMIM:123000	ANKH	56172	HP:0005450	Calvarial osteosclerosis
OMIM:123000	ANKH	56172	HP:0000316	Hypertelorism
OMIM:123000	ANKH	56172	HP:0002694	Sclerosis of skull base
OMIM:228900	GDF5	8200	HP:0002990	Fibular aplasia
OMIM:228900	GDF5	8200	HP:0008119	Deformed tarsal bones
OMIM:228900	GDF5	8200	HP:0008905	Rhizomelia
OMIM:228900	GDF5	8200	HP:0004097	Deviation of finger
OMIM:228900	GDF5	8200	HP:0002999	Patellar dislocation
OMIM:228900	GDF5	8200	HP:0009803	Short phalanx of finger
OMIM:228900	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:228900	GDF5	8200	HP:0001792	Small nail
OMIM:228900	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:228900	GDF5	8200	HP:0001772	Talipes equinovalgus
OMIM:228900	GDF5	8200	HP:0010760	Absent toe
OMIM:228900	GDF5	8200	HP:0010049	Short metacarpal
OMIM:228900	GDF5	8200	HP:0006092	Malaligned carpal bone
OMIM:228900	GDF5	8200	HP:0010624	Aplastic/hypoplastic toenail
OMIM:228900	GDF5	8200	HP:0010743	Short metatarsal
OMIM:228900	GDF5	8200	HP:0001156	Brachydactyly
OMIM:309520	MED12	9968	HP:0000218	High palate
OMIM:309520	MED12	9968	HP:0001274	Agenesis of corpus callosum
OMIM:309520	MED12	9968	HP:0003189	Long nose
OMIM:309520	MED12	9968	HP:0001249	Intellectual disability
OMIM:309520	MED12	9968	HP:0001388	Joint laxity
OMIM:309520	MED12	9968	HP:0000767	Pectus excavatum
OMIM:309520	MED12	9968	HP:0001631	Atrial septal defect
OMIM:309520	MED12	9968	HP:0000426	Prominent nasal bridge
OMIM:309520	MED12	9968	HP:0000327	Hypoplasia of the maxilla
OMIM:309520	MED12	9968	HP:0000712	Emotional lability
OMIM:309520	MED12	9968	HP:0000219	Thin upper lip vermilion
OMIM:309520	MED12	9968	HP:0000256	Macrocephaly
OMIM:309520	MED12	9968	HP:0000369	Low-set ears
OMIM:309520	MED12	9968	HP:0001371	Flexion contracture
OMIM:309520	MED12	9968	HP:0001547	Abnormality of the rib cage
OMIM:309520	MED12	9968	HP:0001166	Arachnodactyly
OMIM:309520	MED12	9968	HP:0002002	Deep philtrum
OMIM:309520	MED12	9968	HP:0001629	Ventricular septal defect
OMIM:309520	MED12	9968	HP:0000722	Obsessive-compulsive behavior
OMIM:309520	MED12	9968	HP:0000717	Autism
OMIM:309520	MED12	9968	HP:0000718	Aggressive behavior
OMIM:309520	MED12	9968	HP:0002007	Frontal bossing
OMIM:309520	MED12	9968	HP:0000678	Dental crowding
OMIM:309520	MED12	9968	HP:0001611	Nasal speech
OMIM:309520	MED12	9968	HP:0000194	Open mouth
OMIM:309520	MED12	9968	HP:0000347	Micrognathia
OMIM:309520	MED12	9968	HP:0000276	Long face
OMIM:309520	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:309520	MED12	9968	HP:0000752	Hyperactivity
OMIM:309520	MED12	9968	HP:0011304	Broad thumb
OMIM:309520	MED12	9968	HP:0000322	Short philtrum
OMIM:309520	MED12	9968	HP:0001250	Seizures
OMIM:309520	MED12	9968	HP:0011220	Prominent forehead
OMIM:309520	MED12	9968	HP:0000275	Narrow face
OMIM:309520	MED12	9968	HP:0001290	Generalized hypotonia
OMIM:309520	MED12	9968	HP:0008544	Abnormally folded helix
OMIM:309520	MED12	9968	HP:0002631	Dilatation of ascending aorta
OMIM:309520	MED12	9968	HP:0000446	Narrow nasal bridge
OMIM:309520	MED12	9968	HP:0000744	Low frustration tolerance
OMIM:309520	MED12	9968	HP:0000119	Abnormality of the genitourinary system
OMIM:309520	MED12	9968	HP:0001519	Disproportionate tall stature
OMIM:309520	MED12	9968	HP:0000735	Impaired social interactions
OMIM:309520	MED12	9968	HP:0000709	Psychosis
OMIM:184095	TRPV4	59341	HP:0002857	Genu valgum
OMIM:184095	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:184095	TRPV4	59341	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:184095	TRPV4	59341	HP:0000478	Abnormality of the eye
OMIM:184095	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:612109	HMX1	3166	HP:0000007	Autosomal recessive inheritance
OMIM:612109	HMX1	3166	HP:0000482	Microcornea
OMIM:612109	HMX1	3166	HP:0007906	Increased intraocular pressure
OMIM:612109	HMX1	3166	HP:0000518	Cataract
OMIM:612109	HMX1	3166	HP:0000568	Microphthalmia
OMIM:612109	HMX1	3166	HP:0000589	Coloboma
OMIM:612109	HMX1	3166	HP:0000510	Rod-cone dystrophy
OMIM:612109	HMX1	3166	HP:0001104	Macular hypoplasia
OMIM:612109	HMX1	3166	HP:0007700	Anterior segment dysgenesis
OMIM:612109	HMX1	3166	HP:0000639	Nystagmus
OMIM:612109	HMX1	3166	HP:0000647	Sclerocornea
OMIM:612109	HMX1	3166	HP:0012376	Microphakia
OMIM:615482	DNAAF4	161582	HP:0012263	Immotile cilia
OMIM:615482	DNAAF4	161582	HP:0000789	Infertility
OMIM:615482	DNAAF4	161582	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAAF4	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAAF4	161582	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAAF4	161582	HP:0011108	Recurrent sinusitis
OMIM:615482	DNAAF4	161582	HP:0002110	Bronchiectasis
OMIM:615482	DNAAF4	161582	HP:0003593	Infantile onset
OMIM:615482	DNAAF4	161582	HP:0012265	Ciliary dyskinesia
OMIM:615482	DNAAF4	161582	HP:0000246	Sinusitis
OMIM:615482	DNAAF4	161582	HP:0001696	Situs inversus totalis
OMIM:613854	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:613854	GDF1	2657	HP:0000006	Autosomal dominant inheritance
OMIM:609621	KCNQ1	3784	HP:0001662	Bradycardia
OMIM:609621	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:609621	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:609621	KCNQ1	3784	HP:0012232	Shortened QT interval
OMIM:609621	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:609621	KCNQ1	3784	HP:0001279	Syncope
OMIM:613480	GJC2	57165	HP:0001581	Recurrent skin infections
OMIM:613480	GJC2	57165	HP:0000006	Autosomal dominant inheritance
OMIM:613480	GJC2	57165	HP:0001004	Lymphedema
OMIM:613480	GJC2	57165	HP:0100658	Cellulitis
OMIM:613480	GJC2	57165	HP:0003829	Incomplete penetrance
ORPHA:82004	FLNA	2316	HP:0002020	Gastroesophageal reflux
ORPHA:82004	FLNA	2316	HP:0000963	Thin skin
ORPHA:82004	FLNA	2316	HP:0100790	Hernia
ORPHA:82004	FLNA	2316	HP:0002021	Pyloric stenosis
ORPHA:82004	FLNA	2316	HP:0007165	Periventricular gray matter heterotopia
ORPHA:82004	FLNA	2316	HP:0002650	Scoliosis
ORPHA:82004	FLNA	2316	HP:0001643	Patent ductus arteriosus
ORPHA:82004	FLNA	2316	HP:0001659	Aortic regurgitation
ORPHA:82004	FLNA	2316	HP:0001382	Joint hypermobility
ORPHA:82004	FLNA	2316	HP:0001892	Abnormal bleeding
ORPHA:82004	FLNA	2316	HP:0007359	Focal seizures
OMIM:616812	BVES	11149	HP:0001279	Syncope
OMIM:616812	BVES	11149	HP:0000007	Autosomal recessive inheritance
OMIM:616812	BVES	11149	HP:0006957	Loss of ability to walk
OMIM:616812	BVES	11149	HP:0003560	Muscular dystrophy
OMIM:616812	BVES	11149	HP:0001688	Sinus bradycardia
OMIM:616812	BVES	11149	HP:0003325	Limb-girdle muscle weakness
OMIM:616812	BVES	11149	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:616812	BVES	11149	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616812	BVES	11149	HP:0003690	Limb muscle weakness
OMIM:612348	PLAT	5327	HP:0004850	Recurrent deep vein thrombosis
OMIM:612348	PLAT	5327	HP:0100724	Hypercoagulability
OMIM:612348	PLAT	5327	HP:0000006	Autosomal dominant inheritance
OMIM:615277	LIM2	3982	HP:0007780	Cortical pulverulent cataract
OMIM:615277	LIM2	3982	HP:0000639	Nystagmus
OMIM:615277	LIM2	3982	HP:0000007	Autosomal recessive inheritance
OMIM:608654	NGF	4803	HP:0007021	Pain insensitivity
OMIM:608654	NGF	4803	HP:0003593	Infantile onset
OMIM:608654	NGF	4803	HP:0002661	Painless fractures due to injury
OMIM:608654	NGF	4803	HP:0000742	Self-mutilation
OMIM:608654	NGF	4803	HP:0001226	Acral ulceration and osteomyelitis leading to autoamputation of digits
OMIM:608654	NGF	4803	HP:0001862	Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
OMIM:608654	NGF	4803	HP:0000007	Autosomal recessive inheritance
OMIM:614616	GUCY2C	2984	HP:0000006	Autosomal dominant inheritance
OMIM:614616	GUCY2C	2984	HP:0002014	Diarrhea
OMIM:616278	ABCD3	5825	HP:0000007	Autosomal recessive inheritance
OMIM:616278	ABCD3	5825	HP:0000952	Jaundice
OMIM:616278	ABCD3	5825	HP:0003676	Progressive
OMIM:616278	ABCD3	5825	HP:0001744	Splenomegaly
OMIM:616278	ABCD3	5825	HP:0001395	Hepatic fibrosis
OMIM:616278	ABCD3	5825	HP:0001399	Hepatic failure
OMIM:616278	ABCD3	5825	HP:0002240	Hepatomegaly
OMIM:616278	ABCD3	5825	HP:0002910	Elevated hepatic transaminases
OMIM:616278	ABCD3	5825	HP:0001891	Iron deficiency anemia
OMIM:616278	ABCD3	5825	HP:0003593	Infantile onset
OMIM:274270	DPYD	1806	HP:0001276	Hypertonia
OMIM:274270	DPYD	1806	HP:0000639	Nystagmus
OMIM:274270	DPYD	1806	HP:0001510	Growth delay
OMIM:274270	DPYD	1806	HP:0001250	Seizures
OMIM:274270	DPYD	1806	HP:0001254	Lethargy
OMIM:274270	DPYD	1806	HP:0000717	Autism
OMIM:274270	DPYD	1806	HP:0000589	Coloboma
OMIM:274270	DPYD	1806	HP:0002445	Tetraplegia
OMIM:274270	DPYD	1806	HP:0001508	Failure to thrive
OMIM:274270	DPYD	1806	HP:0003654	Reduced dihydropyrimidine dehydrogenase activity
OMIM:274270	DPYD	1806	HP:0000252	Microcephaly
OMIM:274270	DPYD	1806	HP:0000750	Delayed speech and language development
OMIM:274270	DPYD	1806	HP:0000007	Autosomal recessive inheritance
OMIM:274270	DPYD	1806	HP:0003812	Phenotypic variability
OMIM:274270	DPYD	1806	HP:0002059	Cerebral atrophy
OMIM:274270	DPYD	1806	HP:0001249	Intellectual disability
OMIM:274270	DPYD	1806	HP:0001270	Motor delay
OMIM:274270	DPYD	1806	HP:0001290	Generalized hypotonia
OMIM:274270	DPYD	1806	HP:0000648	Optic atrophy
OMIM:274270	DPYD	1806	HP:0000568	Microphthalmia
OMIM:274270	DPYD	1806	HP:0000752	Hyperactivity
OMIM:616483	NBAS	51594	HP:0000007	Autosomal recessive inheritance
OMIM:228300	LHB	3972	HP:0002215	Sparse axillary hair
OMIM:228300	LHB	3972	HP:0000054	Micropenis
OMIM:228300	LHB	3972	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:228300	LHB	3972	HP:0000007	Autosomal recessive inheritance
OMIM:228300	LHB	3972	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:228300	LHB	3972	HP:0012215	Testicular microlithiasis
OMIM:228300	LHB	3972	HP:0030344	Decreased circulating luteinizing hormone level
OMIM:228300	LHB	3972	HP:0010789	Abnormality of the Leydig cells
OMIM:228300	LHB	3972	HP:0040171	Decreased serum testosterone level
OMIM:228300	LHB	3972	HP:0008226	Androgen insufficiency
OMIM:228300	LHB	3972	HP:0008669	Abnormal spermatogenesis
OMIM:228300	LHB	3972	HP:0000138	Ovarian cyst
OMIM:228300	LHB	3972	HP:0000869	Secondary amenorrhea
OMIM:228300	LHB	3972	HP:0002225	Sparse pubic hair
OMIM:228300	LHB	3972	HP:0000771	Gynecomastia
OMIM:608354	RASA1	5921	HP:0004947	Arteriovenous fistula
OMIM:608354	RASA1	5921	HP:0005306	Capillary hemangiomas
OMIM:608354	RASA1	5921	HP:0000006	Autosomal dominant inheritance
OMIM:608354	RASA1	5921	HP:0100026	Arteriovenous malformation
OMIM:612444	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAI2	64446	HP:0002257	Chronic rhinitis
OMIM:612444	DNAI2	64446	HP:0012265	Ciliary dyskinesia
OMIM:612444	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:612444	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:612444	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:612444	DNAI2	64446	HP:0003251	Male infertility
OMIM:232220	SLC37A4	2542	HP:0004322	Short stature
OMIM:232220	SLC37A4	2542	HP:0001875	Neutropenia
OMIM:232220	SLC37A4	2542	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232220	SLC37A4	2542	HP:0001733	Pancreatitis
OMIM:232220	SLC37A4	2542	HP:0000660	Lipemia retinalis
OMIM:232220	SLC37A4	2542	HP:0000787	Nephrolithiasis
OMIM:232220	SLC37A4	2542	HP:0001538	Protuberant abdomen
OMIM:232220	SLC37A4	2542	HP:0002240	Hepatomegaly
OMIM:232220	SLC37A4	2542	HP:0000822	Hypertension
OMIM:232220	SLC37A4	2542	HP:0001997	Gout
OMIM:232220	SLC37A4	2542	HP:0001402	Hepatocellular carcinoma
OMIM:232220	SLC37A4	2542	HP:0012213	Decreased glomerular filtration rate
OMIM:232220	SLC37A4	2542	HP:0002718	Recurrent bacterial infections
OMIM:232220	SLC37A4	2542	HP:0000295	Doll-like facies
OMIM:232220	SLC37A4	2542	HP:0003077	Hyperlipidemia
OMIM:232220	SLC37A4	2542	HP:0000007	Autosomal recessive inheritance
OMIM:232220	SLC37A4	2542	HP:0001114	Xanthelasma
OMIM:232220	SLC37A4	2542	HP:0000823	Delayed puberty
OMIM:232220	SLC37A4	2542	HP:0000093	Proteinuria
OMIM:232220	SLC37A4	2542	HP:0000105	Enlarged kidney
OMIM:232220	SLC37A4	2542	HP:0001943	Hypoglycemia
OMIM:232220	SLC37A4	2542	HP:0003128	Lactic acidosis
OMIM:232220	SLC37A4	2542	HP:0002910	Elevated hepatic transaminases
OMIM:232220	SLC37A4	2542	HP:0000939	Osteoporosis
OMIM:232220	SLC37A4	2542	HP:0000155	Oral ulcer
OMIM:615147	RBP4	5950	HP:0000612	Iris coloboma
OMIM:615147	RBP4	5950	HP:0001643	Patent ductus arteriosus
OMIM:615147	RBP4	5950	HP:0007663	Reduced visual acuity
OMIM:615147	RBP4	5950	HP:0200070	Peripheral retinal atrophy
OMIM:615147	RBP4	5950	HP:0000556	Retinal dystrophy
OMIM:615147	RBP4	5950	HP:0000505	Visual impairment
OMIM:615147	RBP4	5950	HP:0040137	Comedonal acne
OMIM:615147	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:608728	MATN3	4148	HP:0008873	Disproportionate short-limb short stature
OMIM:608728	MATN3	4148	HP:0002515	Waddling gait
OMIM:608728	MATN3	4148	HP:0002938	Lumbar hyperlordosis
OMIM:608728	MATN3	4148	HP:0002979	Bowing of the legs
OMIM:608728	MATN3	4148	HP:0003016	Metaphyseal widening
OMIM:608728	MATN3	4148	HP:0000926	Platyspondyly
OMIM:608728	MATN3	4148	HP:0005054	Metaphyseal spurs
OMIM:608728	MATN3	4148	HP:0010585	Small epiphyses
OMIM:608728	MATN3	4148	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:608728	MATN3	4148	HP:0003026	Short long bone
OMIM:608728	MATN3	4148	HP:0000922	Posterior rib cupping
OMIM:608728	MATN3	4148	HP:0003300	Ovoid vertebral bodies
OMIM:608728	MATN3	4148	HP:0002983	Micromelia
OMIM:608728	MATN3	4148	HP:0005257	Thoracic hypoplasia
OMIM:608728	MATN3	4148	HP:0008794	Dysplastic iliac wings
OMIM:608728	MATN3	4148	HP:0003173	Hypoplastic pubic bone
OMIM:608728	MATN3	4148	HP:0001377	Limited elbow extension
OMIM:608728	MATN3	4148	HP:0000007	Autosomal recessive inheritance
OMIM:608728	MATN3	4148	HP:0002868	Narrow iliac wings
OMIM:608728	MATN3	4148	HP:0003180	Flat acetabular roof
OMIM:608728	MATN3	4148	HP:0010582	Irregular epiphyses
OMIM:613819	TTC21B	79809	HP:0003026	Short long bone
OMIM:613819	TTC21B	79809	HP:0000774	Narrow chest
OMIM:613819	TTC21B	79809	HP:0000773	Short ribs
OMIM:613819	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:613819	TTC21B	79809	HP:0000546	Retinal degeneration
OMIM:613819	TTC21B	79809	HP:0004322	Short stature
ORPHA:79329	MGAT2	4247	HP:0000098	Tall stature
ORPHA:79329	MGAT2	4247	HP:0006887	Intellectual disability, progressive
ORPHA:79329	MGAT2	4247	HP:0010864	Intellectual disability, severe
OMIM:151600	PLCD1	5333	HP:0001598	Concave nail
OMIM:151600	PLCD1	5333	HP:0000787	Nephrolithiasis
OMIM:151600	PLCD1	5333	HP:0001820	Leukonychia
OMIM:151600	PLCD1	5333	HP:0000007	Autosomal recessive inheritance
OMIM:151600	PLCD1	5333	HP:0000006	Autosomal dominant inheritance
OMIM:617404	INPP5K	51763	HP:0004322	Short stature
OMIM:617404	INPP5K	51763	HP:0003306	Spinal rigidity
OMIM:617404	INPP5K	51763	HP:0003676	Progressive
OMIM:617404	INPP5K	51763	HP:0040083	Toe walking
OMIM:617404	INPP5K	51763	HP:0002650	Scoliosis
OMIM:617404	INPP5K	51763	HP:0003307	Hyperlordosis
OMIM:617404	INPP5K	51763	HP:0001290	Generalized hypotonia
OMIM:617404	INPP5K	51763	HP:0001270	Motor delay
OMIM:617404	INPP5K	51763	HP:0009126	Increased adipose tissue
OMIM:617404	INPP5K	51763	HP:0000007	Autosomal recessive inheritance
OMIM:617404	INPP5K	51763	HP:0003391	Gowers sign
OMIM:617404	INPP5K	51763	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617404	INPP5K	51763	HP:0001249	Intellectual disability
OMIM:617404	INPP5K	51763	HP:0000486	Strabismus
OMIM:617404	INPP5K	51763	HP:0000518	Cataract
OMIM:617404	INPP5K	51763	HP:0001263	Global developmental delay
OMIM:613071	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:613071	SCNN1G	6340	HP:0004469	Chronic bronchitis
OMIM:613071	SCNN1G	6340	HP:0002110	Bronchiectasis
OMIM:114550	APC	324	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	APC	324	HP:0001402	Hepatocellular carcinoma
OMIM:114550	APC	324	HP:0001425	Heterogeneous
OMIM:114550	APC	324	HP:0001428	Somatic mutation
OMIM:114550	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:114550	APC	324	HP:0001413	Micronodular cirrhosis
OMIM:114550	PDGFRL	5157	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	PDGFRL	5157	HP:0001402	Hepatocellular carcinoma
OMIM:114550	PDGFRL	5157	HP:0001425	Heterogeneous
OMIM:114550	PDGFRL	5157	HP:0001428	Somatic mutation
OMIM:114550	PDGFRL	5157	HP:0000006	Autosomal dominant inheritance
OMIM:114550	PDGFRL	5157	HP:0001413	Micronodular cirrhosis
OMIM:114550	TP53	7157	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	TP53	7157	HP:0001402	Hepatocellular carcinoma
OMIM:114550	TP53	7157	HP:0001425	Heterogeneous
OMIM:114550	TP53	7157	HP:0001428	Somatic mutation
OMIM:114550	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:114550	TP53	7157	HP:0001413	Micronodular cirrhosis
OMIM:114550	AXIN1	8312	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	AXIN1	8312	HP:0001402	Hepatocellular carcinoma
OMIM:114550	AXIN1	8312	HP:0001425	Heterogeneous
OMIM:114550	AXIN1	8312	HP:0001428	Somatic mutation
OMIM:114550	AXIN1	8312	HP:0000006	Autosomal dominant inheritance
OMIM:114550	AXIN1	8312	HP:0001413	Micronodular cirrhosis
OMIM:114550	MET	4233	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	MET	4233	HP:0001402	Hepatocellular carcinoma
OMIM:114550	MET	4233	HP:0001425	Heterogeneous
OMIM:114550	MET	4233	HP:0001428	Somatic mutation
OMIM:114550	MET	4233	HP:0000006	Autosomal dominant inheritance
OMIM:114550	MET	4233	HP:0001413	Micronodular cirrhosis
OMIM:114550	CASP8	841	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	CASP8	841	HP:0001402	Hepatocellular carcinoma
OMIM:114550	CASP8	841	HP:0001425	Heterogeneous
OMIM:114550	CASP8	841	HP:0001428	Somatic mutation
OMIM:114550	CASP8	841	HP:0000006	Autosomal dominant inheritance
OMIM:114550	CASP8	841	HP:0001413	Micronodular cirrhosis
OMIM:114550	IGF2R	3482	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	IGF2R	3482	HP:0001402	Hepatocellular carcinoma
OMIM:114550	IGF2R	3482	HP:0001425	Heterogeneous
OMIM:114550	IGF2R	3482	HP:0001428	Somatic mutation
OMIM:114550	IGF2R	3482	HP:0000006	Autosomal dominant inheritance
OMIM:114550	IGF2R	3482	HP:0001413	Micronodular cirrhosis
OMIM:114550	PIK3CA	5290	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	PIK3CA	5290	HP:0001402	Hepatocellular carcinoma
OMIM:114550	PIK3CA	5290	HP:0001425	Heterogeneous
OMIM:114550	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:114550	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:114550	PIK3CA	5290	HP:0001413	Micronodular cirrhosis
OMIM:114550	CTNNB1	1499	HP:0006572	Subacute progressive viral hepatitis
OMIM:114550	CTNNB1	1499	HP:0001402	Hepatocellular carcinoma
OMIM:114550	CTNNB1	1499	HP:0001425	Heterogeneous
OMIM:114550	CTNNB1	1499	HP:0001428	Somatic mutation
OMIM:114550	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:114550	CTNNB1	1499	HP:0001413	Micronodular cirrhosis
OMIM:605192	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:605192	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:605192	SIX1	6495	HP:0000076	Vesicoureteral reflux
OMIM:605192	SIX1	6495	HP:0000405	Conductive hearing impairment
OMIM:607523	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
ORPHA:782	FOXC1	2296	HP:0000365	Hearing impairment
ORPHA:782	FOXC1	2296	HP:0011800	Midface retrusion
ORPHA:782	FOXC1	2296	HP:0000627	Posterior embryotoxon
ORPHA:782	FOXC1	2296	HP:0000232	Everted lower lip vermilion
ORPHA:782	FOXC1	2296	HP:0000501	Glaucoma
ORPHA:782	FOXC1	2296	HP:0000593	Abnormality of the anterior chamber
ORPHA:782	FOXC1	2296	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:782	FOXC1	2296	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:782	PITX2	5308	HP:0000365	Hearing impairment
ORPHA:782	PITX2	5308	HP:0011800	Midface retrusion
ORPHA:782	PITX2	5308	HP:0000627	Posterior embryotoxon
ORPHA:782	PITX2	5308	HP:0000232	Everted lower lip vermilion
ORPHA:782	PITX2	5308	HP:0000501	Glaucoma
ORPHA:782	PITX2	5308	HP:0000593	Abnormality of the anterior chamber
ORPHA:782	PITX2	5308	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:782	PITX2	5308	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:100800	FGFR3	2261	HP:0008947	Infantile muscular hypotonia
OMIM:100800	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:100800	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:100800	FGFR3	2261	HP:0000403	Recurrent otitis media
OMIM:100800	FGFR3	2261	HP:0008921	Neonatal short-limb short stature
OMIM:100800	FGFR3	2261	HP:0005280	Depressed nasal bridge
OMIM:100800	FGFR3	2261	HP:0001355	Megalencephaly
OMIM:100800	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:100800	FGFR3	2261	HP:0001156	Brachydactyly
OMIM:100800	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:100800	FGFR3	2261	HP:0002970	Genu varum
OMIM:100800	FGFR3	2261	HP:0005733	Spinal stenosis with reduced interpedicular distance
OMIM:100800	FGFR3	2261	HP:0001377	Limited elbow extension
OMIM:100800	FGFR3	2261	HP:0002512	Brain stem compression
OMIM:100800	FGFR3	2261	HP:0003093	Limited hip extension
OMIM:100800	FGFR3	2261	HP:0001270	Motor delay
OMIM:100800	FGFR3	2261	HP:0000272	Malar flattening
OMIM:100800	FGFR3	2261	HP:0004060	Trident hand
OMIM:100800	FGFR3	2261	HP:0002781	Upper airway obstruction
OMIM:100800	FGFR3	2261	HP:0002761	Generalized joint laxity
OMIM:100800	FGFR3	2261	HP:0100864	Short femoral neck
OMIM:100800	FGFR3	2261	HP:0000405	Conductive hearing impairment
OMIM:100800	FGFR3	2261	HP:0008905	Rhizomelia
OMIM:100800	FGFR3	2261	HP:0011800	Midface retrusion
OMIM:100800	FGFR3	2261	HP:0008414	Lumbar kyphosis in infancy
OMIM:100800	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
ORPHA:244310	RFT1	91869	HP:0011968	Feeding difficulties
ORPHA:244310	RFT1	91869	HP:0002240	Hepatomegaly
ORPHA:244310	RFT1	91869	HP:0001263	Global developmental delay
ORPHA:244310	RFT1	91869	HP:0003186	Inverted nipples
ORPHA:244310	RFT1	91869	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:244310	RFT1	91869	HP:0001928	Abnormality of coagulation
ORPHA:244310	RFT1	91869	HP:0001977	Abnormal thrombosis
ORPHA:244310	RFT1	91869	HP:0000505	Visual impairment
ORPHA:244310	RFT1	91869	HP:0000252	Microcephaly
ORPHA:244310	RFT1	91869	HP:0001892	Abnormal bleeding
ORPHA:244310	RFT1	91869	HP:0004322	Short stature
ORPHA:244310	RFT1	91869	HP:0001252	Muscular hypotonia
ORPHA:244310	RFT1	91869	HP:0000365	Hearing impairment
ORPHA:244310	RFT1	91869	HP:0001508	Failure to thrive
ORPHA:244310	RFT1	91869	HP:0001250	Seizures
ORPHA:435387	VCP	7415	HP:0002166	Impaired vibration sensation in the lower limbs
ORPHA:435387	VCP	7415	HP:0040129	Abnormal nerve conduction velocity
ORPHA:435387	VCP	7415	HP:0002829	Arthralgia
ORPHA:435387	VCP	7415	HP:0002460	Distal muscle weakness
ORPHA:435387	VCP	7415	HP:0003438	Absent Achilles reflex
ORPHA:435387	VCP	7415	HP:0001761	Pes cavus
ORPHA:435387	VCP	7415	HP:0003202	Skeletal muscle atrophy
ORPHA:435387	VCP	7415	HP:0002141	Gait imbalance
OMIM:613615	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:613615	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:613615	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:612240	KCNA5	3741	HP:0001962	Palpitations
OMIM:612240	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
ORPHA:976	APRT	353	HP:0000787	Nephrolithiasis
ORPHA:976	APRT	353	HP:0000790	Hematuria
OMIM:228600	ANTXR2	118429	HP:0000169	Gingival fibromatosis
OMIM:228600	ANTXR2	118429	HP:0002797	Osteolysis
OMIM:228600	ANTXR2	118429	HP:0002014	Diarrhea
OMIM:228600	ANTXR2	118429	HP:0000939	Osteoporosis
OMIM:228600	ANTXR2	118429	HP:0000007	Autosomal recessive inheritance
OMIM:228600	ANTXR2	118429	HP:0002719	Recurrent infections
OMIM:228600	ANTXR2	118429	HP:0001482	Subcutaneous nodule
OMIM:228600	ANTXR2	118429	HP:0003676	Progressive
OMIM:228600	ANTXR2	118429	HP:0000280	Coarse facial features
OMIM:228600	ANTXR2	118429	HP:0000938	Osteopenia
OMIM:228600	ANTXR2	118429	HP:0005876	Progressive flexion contractures
OMIM:228600	ANTXR2	118429	HP:0000212	Gingival overgrowth
OMIM:228600	ANTXR2	118429	HP:0003828	Variable expressivity
OMIM:607398	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	MRAP	56246	HP:0001988	Recurrent hypoglycemia
OMIM:607398	MRAP	56246	HP:0003154	Increased circulating ACTH level
OMIM:607398	MRAP	56246	HP:0008163	Decreased circulating cortisol level
OMIM:607398	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:142680	TNFRSF1A	7132	HP:0000988	Skin rash
OMIM:142680	TNFRSF1A	7132	HP:0001954	Episodic fever
OMIM:142680	TNFRSF1A	7132	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:142680	TNFRSF1A	7132	HP:0012280	Hepatic amyloidosis
OMIM:142680	TNFRSF1A	7132	HP:0003552	Muscle stiffness
OMIM:142680	TNFRSF1A	7132	HP:0100539	Periorbital edema
OMIM:142680	TNFRSF1A	7132	HP:0002829	Arthralgia
OMIM:142680	TNFRSF1A	7132	HP:0003326	Myalgia
OMIM:142680	TNFRSF1A	7132	HP:0000969	Edema
OMIM:142680	TNFRSF1A	7132	HP:0000006	Autosomal dominant inheritance
OMIM:142680	TNFRSF1A	7132	HP:0030953	Conjunctival hyperemia
OMIM:142680	TNFRSF1A	7132	HP:0002027	Abdominal pain
OMIM:142680	TNFRSF1A	7132	HP:0011034	Amyloidosis
OMIM:613780	MYLK	4638	HP:0004942	Aortic aneurysm
OMIM:613780	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:613780	MYLK	4638	HP:0002647	Aortic dissection
OMIM:615952	STAT3	6774	HP:0004322	Short stature
OMIM:615952	STAT3	6774	HP:0001890	Autoimmune hemolytic anemia
OMIM:615952	STAT3	6774	HP:0000006	Autosomal dominant inheritance
OMIM:615952	STAT3	6774	HP:0001973	Autoimmune thrombocytopenia
OMIM:615952	STAT3	6774	HP:0002608	Celiac disease
OMIM:615952	STAT3	6774	HP:0002960	Autoimmunity
OMIM:615952	STAT3	6774	HP:0000964	Eczema
OMIM:615952	STAT3	6774	HP:0004313	Decreased antibody level in blood
OMIM:615986	BBS9	27241	HP:0010442	Polydactyly
OMIM:615986	BBS9	27241	HP:0000007	Autosomal recessive inheritance
OMIM:615986	BBS9	27241	HP:0003828	Variable expressivity
OMIM:615986	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615986	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS9	27241	HP:0001513	Obesity
OMIM:250400	MMP13	4322	HP:0000007	Autosomal recessive inheritance
OMIM:250400	MMP13	4322	HP:0002857	Genu valgum
OMIM:250400	MMP13	4322	HP:0003016	Metaphyseal widening
OMIM:250400	MMP13	4322	HP:0006409	Progressive leg bowing
OMIM:250400	MMP13	4322	HP:0000234	Abnormality of the head
OMIM:250400	MMP13	4322	HP:0006385	Short lower limbs
OMIM:250400	MMP13	4322	HP:0001270	Motor delay
OMIM:250400	MMP13	4322	HP:0005871	Metaphyseal chondrodysplasia
OMIM:250400	MMP13	4322	HP:0002515	Waddling gait
OMIM:250400	MMP13	4322	HP:0004979	Metaphyseal sclerosis
OMIM:250400	MMP13	4322	HP:0003498	Disproportionate short stature
OMIM:610442	NANS	54187	HP:0011220	Prominent forehead
OMIM:610442	NANS	54187	HP:0000926	Platyspondyly
OMIM:610442	NANS	54187	HP:0000286	Epicanthus
OMIM:610442	NANS	54187	HP:0003301	Irregular vertebral endplates
OMIM:610442	NANS	54187	HP:0000639	Nystagmus
OMIM:610442	NANS	54187	HP:0001290	Generalized hypotonia
OMIM:610442	NANS	54187	HP:0000664	Synophrys
OMIM:610442	NANS	54187	HP:0003180	Flat acetabular roof
OMIM:610442	NANS	54187	HP:0001007	Hirsutism
OMIM:610442	NANS	54187	HP:0002162	Low posterior hairline
OMIM:610442	NANS	54187	HP:0002868	Narrow iliac wings
OMIM:610442	NANS	54187	HP:0000951	Abnormality of the skin
OMIM:610442	NANS	54187	HP:0005121	Posterior scalloping of vertebral bodies
OMIM:610442	NANS	54187	HP:0000445	Wide nose
OMIM:610442	NANS	54187	HP:0001251	Ataxia
OMIM:610442	NANS	54187	HP:0000252	Microcephaly
OMIM:610442	NANS	54187	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:610442	NANS	54187	HP:0000377	Abnormality of the pinna
OMIM:610442	NANS	54187	HP:0003025	Metaphyseal irregularity
OMIM:610442	NANS	54187	HP:0000280	Coarse facial features
OMIM:610442	NANS	54187	HP:0010582	Irregular epiphyses
OMIM:610442	NANS	54187	HP:0000179	Thick lower lip vermilion
OMIM:610442	NANS	54187	HP:0100864	Short femoral neck
OMIM:610442	NANS	54187	HP:0000248	Brachycephaly
OMIM:610442	NANS	54187	HP:0003085	Long fibula
OMIM:610442	NANS	54187	HP:0003015	Flared metaphysis
OMIM:610442	NANS	54187	HP:0000470	Short neck
OMIM:610442	NANS	54187	HP:0000007	Autosomal recessive inheritance
OMIM:610442	NANS	54187	HP:0000294	Low anterior hairline
OMIM:610442	NANS	54187	HP:0010864	Intellectual disability, severe
OMIM:610442	NANS	54187	HP:0001498	Carpal bone hypoplasia
OMIM:610442	NANS	54187	HP:0010585	Small epiphyses
ORPHA:79113	EFTUD2	9343	HP:0011268	Absent tragus
ORPHA:79113	EFTUD2	9343	HP:0000327	Hypoplasia of the maxilla
ORPHA:79113	EFTUD2	9343	HP:0000286	Epicanthus
ORPHA:79113	EFTUD2	9343	HP:0000413	Atresia of the external auditory canal
ORPHA:79113	EFTUD2	9343	HP:0001249	Intellectual disability
ORPHA:79113	EFTUD2	9343	HP:0008551	Microtia
ORPHA:79113	EFTUD2	9343	HP:0000369	Low-set ears
ORPHA:79113	EFTUD2	9343	HP:0011272	Underdeveloped tragus
ORPHA:79113	EFTUD2	9343	HP:0000384	Preauricular skin tag
ORPHA:79113	EFTUD2	9343	HP:0000506	Telecanthus
ORPHA:79113	EFTUD2	9343	HP:0000175	Cleft palate
ORPHA:79113	EFTUD2	9343	HP:0003196	Short nose
ORPHA:79113	EFTUD2	9343	HP:0004322	Short stature
ORPHA:79113	EFTUD2	9343	HP:0000347	Micrognathia
ORPHA:79113	EFTUD2	9343	HP:0000272	Malar flattening
ORPHA:79113	EFTUD2	9343	HP:0001177	Preaxial hand polydactyly
ORPHA:79113	EFTUD2	9343	HP:0008609	Morphological abnormality of the middle ear
ORPHA:79113	EFTUD2	9343	HP:0009738	Abnormality of the antihelix
ORPHA:79113	EFTUD2	9343	HP:0000191	Accessory oral frenulum
ORPHA:79113	EFTUD2	9343	HP:0000243	Trigonocephaly
ORPHA:79113	EFTUD2	9343	HP:0005484	Postnatal microcephaly
ORPHA:79113	EFTUD2	9343	HP:0000582	Upslanted palpebral fissure
ORPHA:79113	EFTUD2	9343	HP:0011968	Feeding difficulties
ORPHA:79113	EFTUD2	9343	HP:0000396	Overfolded helix
ORPHA:79113	EFTUD2	9343	HP:0000750	Delayed speech and language development
ORPHA:79113	EFTUD2	9343	HP:0009748	Large earlobe
OMIM:610612	RD3	343035	HP:0000639	Nystagmus
OMIM:610612	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:610612	RD3	343035	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	RD3	343035	HP:0007875	Congenital blindness
OMIM:614080	PIGN	23556	HP:0000378	Cupped ear
OMIM:614080	PIGN	23556	HP:0001344	Absent speech
OMIM:614080	PIGN	23556	HP:0002020	Gastroesophageal reflux
OMIM:614080	PIGN	23556	HP:0000007	Autosomal recessive inheritance
OMIM:614080	PIGN	23556	HP:0000233	Thin vermilion border
OMIM:614080	PIGN	23556	HP:0001347	Hyperreflexia
OMIM:614080	PIGN	23556	HP:0001257	Spasticity
OMIM:614080	PIGN	23556	HP:0000280	Coarse facial features
OMIM:614080	PIGN	23556	HP:0000463	Anteverted nares
OMIM:614080	PIGN	23556	HP:0000343	Long philtrum
OMIM:614080	PIGN	23556	HP:0001561	Polyhydramnios
OMIM:614080	PIGN	23556	HP:0003828	Variable expressivity
OMIM:614080	PIGN	23556	HP:0000218	High palate
OMIM:614080	PIGN	23556	HP:0002059	Cerebral atrophy
OMIM:614080	PIGN	23556	HP:0000286	Epicanthus
OMIM:614080	PIGN	23556	HP:0009882	Short distal phalanx of finger
OMIM:614080	PIGN	23556	HP:0000256	Macrocephaly
OMIM:614080	PIGN	23556	HP:0002023	Anal atresia
OMIM:614080	PIGN	23556	HP:0001249	Intellectual disability
OMIM:614080	PIGN	23556	HP:0000347	Micrognathia
OMIM:614080	PIGN	23556	HP:0000646	Amblyopia
OMIM:614080	PIGN	23556	HP:0003196	Short nose
OMIM:614080	PIGN	23556	HP:0000034	Hydrocele testis
OMIM:614080	PIGN	23556	HP:0001631	Atrial septal defect
OMIM:614080	PIGN	23556	HP:0000369	Low-set ears
OMIM:614080	PIGN	23556	HP:0002025	Anal stenosis
OMIM:614080	PIGN	23556	HP:0000341	Narrow forehead
OMIM:614080	PIGN	23556	HP:0000194	Open mouth
OMIM:614080	PIGN	23556	HP:0003577	Congenital onset
OMIM:614080	PIGN	23556	HP:0001250	Seizures
OMIM:614080	PIGN	23556	HP:0002265	Large fleshy ears
OMIM:614080	PIGN	23556	HP:0000358	Posteriorly rotated ears
OMIM:614080	PIGN	23556	HP:0000126	Hydronephrosis
OMIM:614080	PIGN	23556	HP:0001337	Tremor
OMIM:614080	PIGN	23556	HP:0000316	Hypertelorism
OMIM:614080	PIGN	23556	HP:0001263	Global developmental delay
OMIM:614080	PIGN	23556	HP:0001265	Hyporeflexia
OMIM:614080	PIGN	23556	HP:0000396	Overfolded helix
OMIM:614080	PIGN	23556	HP:0001643	Patent ductus arteriosus
OMIM:614080	PIGN	23556	HP:0005280	Depressed nasal bridge
OMIM:614080	PIGN	23556	HP:0000175	Cleft palate
OMIM:614080	PIGN	23556	HP:0000639	Nystagmus
OMIM:614080	PIGN	23556	HP:0001266	Choreoathetosis
OMIM:614080	PIGN	23556	HP:0001290	Generalized hypotonia
OMIM:614080	PIGN	23556	HP:0002007	Frontal bossing
OMIM:246700	SAR1B	51128	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:246700	SAR1B	51128	HP:0001510	Growth delay
OMIM:246700	SAR1B	51128	HP:0003593	Infantile onset
OMIM:246700	SAR1B	51128	HP:0002570	Steatorrhea
OMIM:246700	SAR1B	51128	HP:0001508	Failure to thrive
OMIM:246700	SAR1B	51128	HP:0000007	Autosomal recessive inheritance
OMIM:246700	SAR1B	51128	HP:0000478	Abnormality of the eye
OMIM:246700	SAR1B	51128	HP:0002495	Impaired vibratory sensation
OMIM:246700	SAR1B	51128	HP:0004395	Malnutrition
OMIM:246700	SAR1B	51128	HP:0003073	Hypoalbuminemia
OMIM:246700	SAR1B	51128	HP:0001315	Reduced tendon reflexes
OMIM:246700	SAR1B	51128	HP:0001249	Intellectual disability
OMIM:246700	SAR1B	51128	HP:0002013	Vomiting
OMIM:246700	SAR1B	51128	HP:0002014	Diarrhea
OMIM:246700	SAR1B	51128	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:246700	SAR1B	51128	HP:0003146	Hypocholesterolemia
OMIM:615665	PDE6D	5147	HP:0001162	Postaxial hand polydactyly
OMIM:615665	PDE6D	5147	HP:0002419	Molar tooth sign on MRI
OMIM:615665	PDE6D	5147	HP:0000089	Renal hypoplasia
OMIM:615665	PDE6D	5147	HP:0001263	Global developmental delay
OMIM:615665	PDE6D	5147	HP:0000568	Microphthalmia
OMIM:615665	PDE6D	5147	HP:0000589	Coloboma
OMIM:615665	PDE6D	5147	HP:0001159	Syndactyly
OMIM:615665	PDE6D	5147	HP:0000007	Autosomal recessive inheritance
OMIM:615665	PDE6D	5147	HP:0001511	Intrauterine growth retardation
OMIM:615665	PDE6D	5147	HP:0007973	Retinal dysplasia
OMIM:615665	PDE6D	5147	HP:0001999	Abnormal facial shape
OMIM:615665	PDE6D	5147	HP:0000550	Undetectable electroretinogram
ORPHA:137634	RNF135	84282	HP:0000179	Thick lower lip vermilion
ORPHA:137634	RNF135	84282	HP:0000219	Thin upper lip vermilion
ORPHA:137634	RNF135	84282	HP:0000343	Long philtrum
ORPHA:137634	RNF135	84282	HP:0001999	Abnormal facial shape
ORPHA:137634	RNF135	84282	HP:0000256	Macrocephaly
ORPHA:137634	RNF135	84282	HP:0000337	Broad forehead
ORPHA:137634	RNF135	84282	HP:0001548	Overgrowth
ORPHA:137634	RNF135	84282	HP:0000455	Broad nasal tip
ORPHA:137634	RNF135	84282	HP:0001520	Large for gestational age
ORPHA:137634	RNF135	84282	HP:0000494	Downslanted palpebral fissures
OMIM:617008	ADD3	120	HP:0007256	Abnormal pyramidal signs
OMIM:617008	ADD3	120	HP:0002015	Dysphagia
OMIM:617008	ADD3	120	HP:0002465	Poor speech
OMIM:617008	ADD3	120	HP:0003593	Infantile onset
OMIM:617008	ADD3	120	HP:0000252	Microcephaly
OMIM:617008	ADD3	120	HP:0001263	Global developmental delay
OMIM:617008	ADD3	120	HP:0000577	Exotropia
OMIM:617008	ADD3	120	HP:0000605	Supranuclear gaze palsy
OMIM:617008	ADD3	120	HP:0002510	Spastic tetraplegia
OMIM:617008	ADD3	120	HP:0100543	Cognitive impairment
OMIM:617008	ADD3	120	HP:0001264	Spastic diplegia
OMIM:617008	ADD3	120	HP:0000639	Nystagmus
OMIM:617008	ADD3	120	HP:0003828	Variable expressivity
OMIM:617008	ADD3	120	HP:0000007	Autosomal recessive inheritance
OMIM:176410	LHCGR	3973	HP:0008185	Precocious puberty in males
OMIM:176410	LHCGR	3973	HP:0001470	Sex-limited autosomal dominant
OMIM:176410	LHCGR	3973	HP:0008734	Decreased testicular size
OMIM:610474	FGFR3	2261	HP:0001166	Arachnodactyly
OMIM:610474	FGFR3	2261	HP:0001836	Camptodactyly of toe
OMIM:610474	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:610474	FGFR3	2261	HP:0000252	Microcephaly
OMIM:610474	FGFR3	2261	HP:0030431	Osteochondroma
OMIM:610474	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:610474	FGFR3	2261	HP:0006417	Broad femoral metaphyses
OMIM:610474	FGFR3	2261	HP:0000098	Tall stature
OMIM:610474	FGFR3	2261	HP:0009473	Joint contracture of the hand
OMIM:610474	FGFR3	2261	HP:0004570	Increased vertebral height
OMIM:610474	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:610474	FGFR3	2261	HP:0002650	Scoliosis
OMIM:610474	FGFR3	2261	HP:0000007	Autosomal recessive inheritance
OMIM:610474	FGFR3	2261	HP:0000767	Pectus excavatum
OMIM:610474	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:616544	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:616544	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:616544	HGSNAT	138050	HP:0001105	Retinal atrophy
OMIM:616544	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:616544	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613881	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613881	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613881	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615224	CSNK1D	1453	HP:0000006	Autosomal dominant inheritance
OMIM:224750	WNT10A	80326	HP:0001792	Small nail
OMIM:224750	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:224750	WNT10A	80326	HP:0000668	Hypodontia
OMIM:224750	WNT10A	80326	HP:0001806	Onycholysis
OMIM:224750	WNT10A	80326	HP:0000982	Palmoplantar keratoderma
OMIM:224750	WNT10A	80326	HP:0011313	Narrow nail
OMIM:224750	WNT10A	80326	HP:0000320	Bird-like facies
OMIM:224750	WNT10A	80326	HP:0001807	Ridged nail
OMIM:224750	WNT10A	80326	HP:0002860	Squamous cell carcinoma
OMIM:224750	WNT10A	80326	HP:0001006	Hypotrichosis
OMIM:224750	WNT10A	80326	HP:0000478	Abnormality of the eye
OMIM:224750	WNT10A	80326	HP:0000968	Ectodermal dysplasia
OMIM:224750	WNT10A	80326	HP:0002671	Basal cell carcinoma
OMIM:224750	WNT10A	80326	HP:0001816	Thin nail
ORPHA:250984	COL9A1	1297	HP:0000407	Sensorineural hearing impairment
ORPHA:250984	COL9A1	1297	HP:0012368	Flat face
ORPHA:250984	COL9A1	1297	HP:0003301	Irregular vertebral endplates
ORPHA:250984	COL9A1	1297	HP:0000175	Cleft palate
ORPHA:250984	COL9A1	1297	HP:0000272	Malar flattening
ORPHA:250984	COL9A1	1297	HP:0000545	Myopia
ORPHA:250984	COL9A1	1297	HP:0004322	Short stature
ORPHA:250984	COL9A1	1297	HP:0000655	Vitreoretinal degeneration
ORPHA:250984	COL9A1	1297	HP:0002656	Epiphyseal dysplasia
ORPHA:250984	COL9A1	1297	HP:0000483	Astigmatism
ORPHA:250984	COL9A1	1297	HP:0000541	Retinal detachment
ORPHA:250984	COL9A1	1297	HP:0005692	Joint hyperflexibility
ORPHA:250984	COL9A1	1297	HP:0002857	Genu valgum
ORPHA:250984	COL9A1	1297	HP:0000926	Platyspondyly
ORPHA:250984	COL9A1	1297	HP:0000646	Amblyopia
ORPHA:250984	COL9A1	1297	HP:0000347	Micrognathia
ORPHA:250984	COL9A1	1297	HP:0000518	Cataract
ORPHA:250984	COL9A2	1298	HP:0000407	Sensorineural hearing impairment
ORPHA:250984	COL9A2	1298	HP:0012368	Flat face
ORPHA:250984	COL9A2	1298	HP:0003301	Irregular vertebral endplates
ORPHA:250984	COL9A2	1298	HP:0000175	Cleft palate
ORPHA:250984	COL9A2	1298	HP:0000272	Malar flattening
ORPHA:250984	COL9A2	1298	HP:0000545	Myopia
ORPHA:250984	COL9A2	1298	HP:0004322	Short stature
ORPHA:250984	COL9A2	1298	HP:0000655	Vitreoretinal degeneration
ORPHA:250984	COL9A2	1298	HP:0002656	Epiphyseal dysplasia
ORPHA:250984	COL9A2	1298	HP:0000483	Astigmatism
ORPHA:250984	COL9A2	1298	HP:0000541	Retinal detachment
ORPHA:250984	COL9A2	1298	HP:0005692	Joint hyperflexibility
ORPHA:250984	COL9A2	1298	HP:0002857	Genu valgum
ORPHA:250984	COL9A2	1298	HP:0000926	Platyspondyly
ORPHA:250984	COL9A2	1298	HP:0000646	Amblyopia
ORPHA:250984	COL9A2	1298	HP:0000347	Micrognathia
ORPHA:250984	COL9A2	1298	HP:0000518	Cataract
ORPHA:250984	COL9A3	1299	HP:0000407	Sensorineural hearing impairment
ORPHA:250984	COL9A3	1299	HP:0012368	Flat face
ORPHA:250984	COL9A3	1299	HP:0003301	Irregular vertebral endplates
ORPHA:250984	COL9A3	1299	HP:0000175	Cleft palate
ORPHA:250984	COL9A3	1299	HP:0000272	Malar flattening
ORPHA:250984	COL9A3	1299	HP:0000545	Myopia
ORPHA:250984	COL9A3	1299	HP:0004322	Short stature
ORPHA:250984	COL9A3	1299	HP:0000655	Vitreoretinal degeneration
ORPHA:250984	COL9A3	1299	HP:0002656	Epiphyseal dysplasia
ORPHA:250984	COL9A3	1299	HP:0000483	Astigmatism
ORPHA:250984	COL9A3	1299	HP:0000541	Retinal detachment
ORPHA:250984	COL9A3	1299	HP:0005692	Joint hyperflexibility
ORPHA:250984	COL9A3	1299	HP:0002857	Genu valgum
ORPHA:250984	COL9A3	1299	HP:0000926	Platyspondyly
ORPHA:250984	COL9A3	1299	HP:0000646	Amblyopia
ORPHA:250984	COL9A3	1299	HP:0000347	Micrognathia
ORPHA:250984	COL9A3	1299	HP:0000518	Cataract
ORPHA:250984	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
ORPHA:250984	COL11A1	1301	HP:0012368	Flat face
ORPHA:250984	COL11A1	1301	HP:0003301	Irregular vertebral endplates
ORPHA:250984	COL11A1	1301	HP:0000175	Cleft palate
ORPHA:250984	COL11A1	1301	HP:0000272	Malar flattening
ORPHA:250984	COL11A1	1301	HP:0000545	Myopia
ORPHA:250984	COL11A1	1301	HP:0004322	Short stature
ORPHA:250984	COL11A1	1301	HP:0000655	Vitreoretinal degeneration
ORPHA:250984	COL11A1	1301	HP:0002656	Epiphyseal dysplasia
ORPHA:250984	COL11A1	1301	HP:0000483	Astigmatism
ORPHA:250984	COL11A1	1301	HP:0000541	Retinal detachment
ORPHA:250984	COL11A1	1301	HP:0005692	Joint hyperflexibility
ORPHA:250984	COL11A1	1301	HP:0002857	Genu valgum
ORPHA:250984	COL11A1	1301	HP:0000926	Platyspondyly
ORPHA:250984	COL11A1	1301	HP:0000646	Amblyopia
ORPHA:250984	COL11A1	1301	HP:0000347	Micrognathia
ORPHA:250984	COL11A1	1301	HP:0000518	Cataract
ORPHA:235	NSUN2	54888	HP:0000028	Cryptorchidism
ORPHA:235	NSUN2	54888	HP:0000506	Telecanthus
ORPHA:235	NSUN2	54888	HP:0000270	Delayed cranial suture closure
ORPHA:235	NSUN2	54888	HP:0001511	Intrauterine growth retardation
ORPHA:235	NSUN2	54888	HP:0001773	Short foot
ORPHA:235	NSUN2	54888	HP:0004322	Short stature
ORPHA:235	NSUN2	54888	HP:0005338	Sparse lateral eyebrow
ORPHA:235	NSUN2	54888	HP:0002093	Respiratory insufficiency
ORPHA:235	NSUN2	54888	HP:0000411	Protruding ear
ORPHA:235	NSUN2	54888	HP:0011304	Broad thumb
ORPHA:235	NSUN2	54888	HP:0000365	Hearing impairment
ORPHA:235	NSUN2	54888	HP:0000316	Hypertelorism
ORPHA:235	NSUN2	54888	HP:0002213	Fine hair
ORPHA:235	NSUN2	54888	HP:0001249	Intellectual disability
ORPHA:235	NSUN2	54888	HP:0200055	Small hand
ORPHA:235	NSUN2	54888	HP:0000581	Blepharophimosis
ORPHA:235	NSUN2	54888	HP:0000275	Narrow face
ORPHA:235	NSUN2	54888	HP:0005280	Depressed nasal bridge
ORPHA:235	NSUN2	54888	HP:0000340	Sloping forehead
ORPHA:235	NSUN2	54888	HP:0000047	Hypospadias
ORPHA:235	NSUN2	54888	HP:0000347	Micrognathia
ORPHA:235	NSUN2	54888	HP:0002750	Delayed skeletal maturation
ORPHA:235	NSUN2	54888	HP:0000294	Low anterior hairline
ORPHA:235	NSUN2	54888	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:235	NSUN2	54888	HP:0000252	Microcephaly
ORPHA:235	NSUN2	54888	HP:0000964	Eczema
ORPHA:235	NSUN2	54888	HP:0000176	Submucous cleft hard palate
ORPHA:235	NSUN2	54888	HP:0000260	Wide anterior fontanel
ORPHA:235	NSUN2	54888	HP:0002719	Recurrent infections
ORPHA:235	NSUN2	54888	HP:0001852	Sandal gap
ORPHA:235	NSUN2	54888	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:235	NSUN2	54888	HP:0000286	Epicanthus
ORPHA:235	NSUN2	54888	HP:0008897	Postnatal growth retardation
ORPHA:235	NSUN2	54888	HP:0002209	Sparse scalp hair
ORPHA:235	NSUN2	54888	HP:0009738	Abnormality of the antihelix
ORPHA:235	NSUN2	54888	HP:0000508	Ptosis
ORPHA:235	NSUN2	54888	HP:0004209	Clinodactyly of the 5th finger
ORPHA:235	NSUN2	54888	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:235	NSUN2	54888	HP:0000055	Abnormality of female external genitalia
ORPHA:235	NSUN2	54888	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:235	LIG4	3981	HP:0000028	Cryptorchidism
ORPHA:235	LIG4	3981	HP:0000506	Telecanthus
ORPHA:235	LIG4	3981	HP:0000270	Delayed cranial suture closure
ORPHA:235	LIG4	3981	HP:0001511	Intrauterine growth retardation
ORPHA:235	LIG4	3981	HP:0001773	Short foot
ORPHA:235	LIG4	3981	HP:0004322	Short stature
ORPHA:235	LIG4	3981	HP:0005338	Sparse lateral eyebrow
ORPHA:235	LIG4	3981	HP:0002093	Respiratory insufficiency
ORPHA:235	LIG4	3981	HP:0000411	Protruding ear
ORPHA:235	LIG4	3981	HP:0011304	Broad thumb
ORPHA:235	LIG4	3981	HP:0000365	Hearing impairment
ORPHA:235	LIG4	3981	HP:0000316	Hypertelorism
ORPHA:235	LIG4	3981	HP:0002213	Fine hair
ORPHA:235	LIG4	3981	HP:0001249	Intellectual disability
ORPHA:235	LIG4	3981	HP:0200055	Small hand
ORPHA:235	LIG4	3981	HP:0000581	Blepharophimosis
ORPHA:235	LIG4	3981	HP:0000275	Narrow face
ORPHA:235	LIG4	3981	HP:0005280	Depressed nasal bridge
ORPHA:235	LIG4	3981	HP:0000340	Sloping forehead
ORPHA:235	LIG4	3981	HP:0000047	Hypospadias
ORPHA:235	LIG4	3981	HP:0000347	Micrognathia
ORPHA:235	LIG4	3981	HP:0002750	Delayed skeletal maturation
ORPHA:235	LIG4	3981	HP:0000294	Low anterior hairline
ORPHA:235	LIG4	3981	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:235	LIG4	3981	HP:0000252	Microcephaly
ORPHA:235	LIG4	3981	HP:0000964	Eczema
ORPHA:235	LIG4	3981	HP:0000176	Submucous cleft hard palate
ORPHA:235	LIG4	3981	HP:0000260	Wide anterior fontanel
ORPHA:235	LIG4	3981	HP:0002719	Recurrent infections
ORPHA:235	LIG4	3981	HP:0001852	Sandal gap
ORPHA:235	LIG4	3981	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:235	LIG4	3981	HP:0000286	Epicanthus
ORPHA:235	LIG4	3981	HP:0008897	Postnatal growth retardation
ORPHA:235	LIG4	3981	HP:0002209	Sparse scalp hair
ORPHA:235	LIG4	3981	HP:0009738	Abnormality of the antihelix
ORPHA:235	LIG4	3981	HP:0000508	Ptosis
ORPHA:235	LIG4	3981	HP:0004209	Clinodactyly of the 5th finger
ORPHA:235	LIG4	3981	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:235	LIG4	3981	HP:0000055	Abnormality of female external genitalia
ORPHA:235	LIG4	3981	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:2588	SMAD4	4089	HP:0000772	Abnormality of the ribs
ORPHA:2588	SMAD4	4089	HP:0008818	Large iliac wings
ORPHA:2588	SMAD4	4089	HP:0012745	Short palpebral fissure
ORPHA:2588	SMAD4	4089	HP:0001072	Thickened skin
ORPHA:2588	SMAD4	4089	HP:0000160	Narrow mouth
ORPHA:2588	SMAD4	4089	HP:0000303	Mandibular prognathia
ORPHA:2588	SMAD4	4089	HP:0001249	Intellectual disability
ORPHA:2588	SMAD4	4089	HP:0003457	EMG abnormality
ORPHA:2588	SMAD4	4089	HP:0000365	Hearing impairment
ORPHA:2588	SMAD4	4089	HP:0000822	Hypertension
ORPHA:2588	SMAD4	4089	HP:0001328	Specific learning disability
ORPHA:2588	SMAD4	4089	HP:0000944	Abnormality of the metaphysis
ORPHA:2588	SMAD4	4089	HP:0001511	Intrauterine growth retardation
ORPHA:2588	SMAD4	4089	HP:0000508	Ptosis
ORPHA:2588	SMAD4	4089	HP:0003510	Severe short stature
ORPHA:2588	SMAD4	4089	HP:0000581	Blepharophimosis
ORPHA:2588	SMAD4	4089	HP:0000926	Platyspondyly
ORPHA:2588	SMAD4	4089	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2588	SMAD4	4089	HP:0001156	Brachydactyly
ORPHA:2588	SMAD4	4089	HP:0008499	High-grade hypermetropia
ORPHA:2588	SMAD4	4089	HP:0011800	Midface retrusion
ORPHA:2588	SMAD4	4089	HP:0001671	Abnormality of the cardiac septa
ORPHA:2588	SMAD4	4089	HP:0001387	Joint stiffness
ORPHA:2588	SMAD4	4089	HP:0004279	Short palm
ORPHA:2588	SMAD4	4089	HP:0000028	Cryptorchidism
ORPHA:2588	SMAD4	4089	HP:0000233	Thin vermilion border
ORPHA:2588	SMAD4	4089	HP:0000327	Hypoplasia of the maxilla
ORPHA:2588	SMAD4	4089	HP:0004493	Craniofacial hyperostosis
ORPHA:2588	SMAD4	4089	HP:0003172	Abnormality of the pubic bone
ORPHA:2588	SMAD4	4089	HP:0003712	Skeletal muscle hypertrophy
ORPHA:2588	SMAD4	4089	HP:0001263	Global developmental delay
OMIM:615981	BBS2	583	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615981	BBS2	583	HP:0001263	Global developmental delay
OMIM:615981	BBS2	583	HP:0000135	Hypogonadism
OMIM:615981	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615981	BBS2	583	HP:0001249	Intellectual disability
OMIM:615981	BBS2	583	HP:0001513	Obesity
OMIM:615981	BBS2	583	HP:0003241	External genital hypoplasia
ORPHA:206583	GBE1	2632	HP:0001257	Spasticity
ORPHA:206583	GBE1	2632	HP:0200042	Skin ulcer
ORPHA:206583	GBE1	2632	HP:0000708	Behavioral abnormality
ORPHA:206583	GBE1	2632	HP:0001324	Muscle weakness
ORPHA:206583	GBE1	2632	HP:0000011	Neurogenic bladder
ORPHA:206583	GBE1	2632	HP:0001249	Intellectual disability
ORPHA:206583	GBE1	2632	HP:0007256	Abnormal pyramidal signs
ORPHA:206583	GBE1	2632	HP:0001288	Gait disturbance
ORPHA:206583	GBE1	2632	HP:0002839	Urinary bladder sphincter dysfunction
ORPHA:206583	GBE1	2632	HP:0002936	Distal sensory impairment
ORPHA:206583	GBE1	2632	HP:0000020	Urinary incontinence
ORPHA:206583	GBE1	2632	HP:0001269	Hemiparesis
OMIM:613718	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:250100	ARSA	410	HP:0001251	Ataxia
OMIM:250100	ARSA	410	HP:0000712	Emotional lability
OMIM:250100	ARSA	410	HP:0002510	Spastic tetraplegia
OMIM:250100	ARSA	410	HP:0000738	Hallucinations
OMIM:250100	ARSA	410	HP:0003487	Babinski sign
OMIM:250100	ARSA	410	HP:0001332	Dystonia
OMIM:250100	ARSA	410	HP:0001265	Hyporeflexia
OMIM:250100	ARSA	410	HP:0007133	Progressive peripheral neuropathy
OMIM:250100	ARSA	410	HP:0000020	Urinary incontinence
OMIM:250100	ARSA	410	HP:0001250	Seizures
OMIM:250100	ARSA	410	HP:0003445	EMG: neuropathic changes
OMIM:250100	ARSA	410	HP:0001260	Dysarthria
OMIM:250100	ARSA	410	HP:0000648	Optic atrophy
OMIM:250100	ARSA	410	HP:0002500	Abnormality of the cerebral white matter
OMIM:250100	ARSA	410	HP:0005609	Gallbladder dysfunction
OMIM:250100	ARSA	410	HP:0001283	Bulbar palsy
OMIM:250100	ARSA	410	HP:0002371	Loss of speech
OMIM:250100	ARSA	410	HP:0001288	Gait disturbance
OMIM:250100	ARSA	410	HP:0002445	Tetraplegia
OMIM:250100	ARSA	410	HP:0001290	Generalized hypotonia
OMIM:250100	ARSA	410	HP:0002922	Increased CSF protein
OMIM:250100	ARSA	410	HP:0001249	Intellectual disability
OMIM:250100	ARSA	410	HP:0001268	Mental deterioration
OMIM:250100	ARSA	410	HP:0001347	Hyperreflexia
OMIM:250100	ARSA	410	HP:0002072	Chorea
OMIM:250100	ARSA	410	HP:0000007	Autosomal recessive inheritance
OMIM:250100	ARSA	410	HP:0000746	Delusions
OMIM:250100	ARSA	410	HP:0001082	Cholecystitis
OMIM:250100	ARSA	410	HP:0000762	Decreased nerve conduction velocity
OMIM:250100	ARSA	410	HP:0011096	Peripheral demyelination
OMIM:617030	ADSSL1	122622	HP:0003555	Muscle fiber splitting
OMIM:617030	ADSSL1	122622	HP:0003693	Distal amyotrophy
OMIM:617030	ADSSL1	122622	HP:0010628	Facial palsy
OMIM:617030	ADSSL1	122622	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:617030	ADSSL1	122622	HP:0003677	Slow progression
OMIM:617030	ADSSL1	122622	HP:0000007	Autosomal recessive inheritance
OMIM:617030	ADSSL1	122622	HP:0002600	Hyporeflexia of lower limbs
OMIM:610768	DOLK	22845	HP:0000653	Sparse eyelashes
OMIM:610768	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:610768	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:610768	DOLK	22845	HP:0000535	Sparse and thin eyebrow
OMIM:610768	DOLK	22845	HP:0001250	Seizures
OMIM:610768	DOLK	22845	HP:0001985	Hypoketotic hypoglycemia
OMIM:610768	DOLK	22845	HP:0001522	Death in infancy
OMIM:610768	DOLK	22845	HP:0003160	Abnormal isoelectric focusing of serum transferrin
OMIM:610768	DOLK	22845	HP:0005484	Postnatal microcephaly
OMIM:610768	DOLK	22845	HP:0008064	Ichthyosis
OMIM:610768	DOLK	22845	HP:0002521	Hypsarrhythmia
OMIM:610768	DOLK	22845	HP:0001508	Failure to thrive
OMIM:616831	SETD2	29072	HP:0000403	Recurrent otitis media
OMIM:616831	SETD2	29072	HP:0002119	Ventriculomegaly
OMIM:616831	SETD2	29072	HP:0003812	Phenotypic variability
OMIM:616831	SETD2	29072	HP:0000276	Long face
OMIM:616831	SETD2	29072	HP:0001263	Global developmental delay
OMIM:616831	SETD2	29072	HP:0001290	Generalized hypotonia
OMIM:616831	SETD2	29072	HP:0000272	Malar flattening
OMIM:616831	SETD2	29072	HP:0001548	Overgrowth
OMIM:616831	SETD2	29072	HP:0000307	Pointed chin
OMIM:616831	SETD2	29072	HP:0000006	Autosomal dominant inheritance
OMIM:616831	SETD2	29072	HP:0001250	Seizures
OMIM:616831	SETD2	29072	HP:0001513	Obesity
OMIM:616831	SETD2	29072	HP:0100962	Shyness
OMIM:616831	SETD2	29072	HP:0000750	Delayed speech and language development
OMIM:616831	SETD2	29072	HP:0004322	Short stature
OMIM:616831	SETD2	29072	HP:0000147	Polycystic ovaries
OMIM:616831	SETD2	29072	HP:0000858	Menstrual irregularities
OMIM:616831	SETD2	29072	HP:0001833	Long foot
OMIM:616831	SETD2	29072	HP:0003189	Long nose
OMIM:616831	SETD2	29072	HP:0000348	High forehead
OMIM:616831	SETD2	29072	HP:0001350	Slurred speech
OMIM:616831	SETD2	29072	HP:0003396	Syringomyelia
OMIM:616831	SETD2	29072	HP:0000494	Downslanted palpebral fissures
OMIM:616831	SETD2	29072	HP:0004233	Advanced ossification of carpal bones
OMIM:616831	SETD2	29072	HP:0000718	Aggressive behavior
OMIM:616831	SETD2	29072	HP:0001007	Hirsutism
OMIM:616831	SETD2	29072	HP:0011220	Prominent forehead
OMIM:616831	SETD2	29072	HP:0001249	Intellectual disability
OMIM:616831	SETD2	29072	HP:0009890	High anterior hairline
OMIM:616831	SETD2	29072	HP:0000729	Autistic behavior
OMIM:616831	SETD2	29072	HP:0002591	Polyphagia
OMIM:616831	SETD2	29072	HP:0002308	Arnold-Chiari malformation
OMIM:616831	SETD2	29072	HP:0000303	Mandibular prognathia
ORPHA:139466	WNT4	54361	HP:0000202	Oral cleft
ORPHA:139466	WNT4	54361	HP:0001642	Pulmonic stenosis
ORPHA:139466	WNT4	54361	HP:0000834	Abnormality of the adrenal glands
ORPHA:139466	WNT4	54361	HP:0004794	Malrotation of small bowel
ORPHA:139466	WNT4	54361	HP:0001510	Growth delay
ORPHA:139466	WNT4	54361	HP:0001629	Ventricular septal defect
ORPHA:139466	WNT4	54361	HP:0000776	Congenital diaphragmatic hernia
ORPHA:139466	WNT4	54361	HP:0005343	Hypoplasia of the bladder
ORPHA:139466	WNT4	54361	HP:0002089	Pulmonary hypoplasia
ORPHA:139466	WNT4	54361	HP:0000047	Hypospadias
ORPHA:139466	WNT4	54361	HP:0000104	Renal agenesis
ORPHA:139466	WNT4	54361	HP:0012245	Sex reversal
ORPHA:139466	WNT4	54361	HP:0001562	Oligohydramnios
ORPHA:3156	WDR19	57728	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	WDR19	57728	HP:0004322	Short stature
ORPHA:3156	WDR19	57728	HP:0000822	Hypertension
ORPHA:3156	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	WDR19	57728	HP:0000556	Retinal dystrophy
ORPHA:3156	WDR19	57728	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	WDR19	57728	HP:0000505	Visual impairment
ORPHA:3156	WDR19	57728	HP:0000090	Nephronophthisis
ORPHA:3156	WDR19	57728	HP:0000529	Progressive visual loss
ORPHA:3156	WDR19	57728	HP:0001263	Global developmental delay
ORPHA:3156	CEP164	22897	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	CEP164	22897	HP:0004322	Short stature
ORPHA:3156	CEP164	22897	HP:0000822	Hypertension
ORPHA:3156	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	CEP164	22897	HP:0000556	Retinal dystrophy
ORPHA:3156	CEP164	22897	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	CEP164	22897	HP:0000505	Visual impairment
ORPHA:3156	CEP164	22897	HP:0000090	Nephronophthisis
ORPHA:3156	CEP164	22897	HP:0000529	Progressive visual loss
ORPHA:3156	CEP164	22897	HP:0001263	Global developmental delay
ORPHA:3156	TRAF3IP1	26146	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	TRAF3IP1	26146	HP:0004322	Short stature
ORPHA:3156	TRAF3IP1	26146	HP:0000822	Hypertension
ORPHA:3156	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	TRAF3IP1	26146	HP:0000556	Retinal dystrophy
ORPHA:3156	TRAF3IP1	26146	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	TRAF3IP1	26146	HP:0000505	Visual impairment
ORPHA:3156	TRAF3IP1	26146	HP:0000090	Nephronophthisis
ORPHA:3156	TRAF3IP1	26146	HP:0000529	Progressive visual loss
ORPHA:3156	TRAF3IP1	26146	HP:0001263	Global developmental delay
ORPHA:3156	NPHP1	4867	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	NPHP1	4867	HP:0004322	Short stature
ORPHA:3156	NPHP1	4867	HP:0000822	Hypertension
ORPHA:3156	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	NPHP1	4867	HP:0000556	Retinal dystrophy
ORPHA:3156	NPHP1	4867	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	NPHP1	4867	HP:0000505	Visual impairment
ORPHA:3156	NPHP1	4867	HP:0000090	Nephronophthisis
ORPHA:3156	NPHP1	4867	HP:0000529	Progressive visual loss
ORPHA:3156	NPHP1	4867	HP:0001263	Global developmental delay
ORPHA:3156	NPHP4	261734	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	NPHP4	261734	HP:0004322	Short stature
ORPHA:3156	NPHP4	261734	HP:0000822	Hypertension
ORPHA:3156	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	NPHP4	261734	HP:0000556	Retinal dystrophy
ORPHA:3156	NPHP4	261734	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	NPHP4	261734	HP:0000505	Visual impairment
ORPHA:3156	NPHP4	261734	HP:0000090	Nephronophthisis
ORPHA:3156	NPHP4	261734	HP:0000529	Progressive visual loss
ORPHA:3156	NPHP4	261734	HP:0001263	Global developmental delay
ORPHA:3156	SDCCAG8	10806	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	SDCCAG8	10806	HP:0004322	Short stature
ORPHA:3156	SDCCAG8	10806	HP:0000822	Hypertension
ORPHA:3156	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	SDCCAG8	10806	HP:0000556	Retinal dystrophy
ORPHA:3156	SDCCAG8	10806	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	SDCCAG8	10806	HP:0000505	Visual impairment
ORPHA:3156	SDCCAG8	10806	HP:0000090	Nephronophthisis
ORPHA:3156	SDCCAG8	10806	HP:0000529	Progressive visual loss
ORPHA:3156	SDCCAG8	10806	HP:0001263	Global developmental delay
ORPHA:3156	NPHP3	27031	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	NPHP3	27031	HP:0004322	Short stature
ORPHA:3156	NPHP3	27031	HP:0000822	Hypertension
ORPHA:3156	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	NPHP3	27031	HP:0000556	Retinal dystrophy
ORPHA:3156	NPHP3	27031	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	NPHP3	27031	HP:0000505	Visual impairment
ORPHA:3156	NPHP3	27031	HP:0000090	Nephronophthisis
ORPHA:3156	NPHP3	27031	HP:0000529	Progressive visual loss
ORPHA:3156	NPHP3	27031	HP:0001263	Global developmental delay
ORPHA:3156	CEP290	80184	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	CEP290	80184	HP:0004322	Short stature
ORPHA:3156	CEP290	80184	HP:0000822	Hypertension
ORPHA:3156	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	CEP290	80184	HP:0000556	Retinal dystrophy
ORPHA:3156	CEP290	80184	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	CEP290	80184	HP:0000505	Visual impairment
ORPHA:3156	CEP290	80184	HP:0000090	Nephronophthisis
ORPHA:3156	CEP290	80184	HP:0000529	Progressive visual loss
ORPHA:3156	CEP290	80184	HP:0001263	Global developmental delay
ORPHA:3156	IQCB1	9657	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	IQCB1	9657	HP:0004322	Short stature
ORPHA:3156	IQCB1	9657	HP:0000822	Hypertension
ORPHA:3156	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	IQCB1	9657	HP:0000556	Retinal dystrophy
ORPHA:3156	IQCB1	9657	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	IQCB1	9657	HP:0000505	Visual impairment
ORPHA:3156	IQCB1	9657	HP:0000090	Nephronophthisis
ORPHA:3156	IQCB1	9657	HP:0000529	Progressive visual loss
ORPHA:3156	IQCB1	9657	HP:0001263	Global developmental delay
ORPHA:3156	INVS	27130	HP:0008209	Premature ovarian insufficiency
ORPHA:3156	INVS	27130	HP:0004322	Short stature
ORPHA:3156	INVS	27130	HP:0000822	Hypertension
ORPHA:3156	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
ORPHA:3156	INVS	27130	HP:0000556	Retinal dystrophy
ORPHA:3156	INVS	27130	HP:0007703	Abnormality of retinal pigmentation
ORPHA:3156	INVS	27130	HP:0000505	Visual impairment
ORPHA:3156	INVS	27130	HP:0000090	Nephronophthisis
ORPHA:3156	INVS	27130	HP:0000529	Progressive visual loss
ORPHA:3156	INVS	27130	HP:0001263	Global developmental delay
OMIM:603373	TSHR	7253	HP:0000836	Hyperthyroidism
OMIM:603373	TSHR	7253	HP:0000006	Autosomal dominant inheritance
OMIM:603373	TSHR	7253	HP:0012188	Hyperemesis gravidarum
OMIM:129500	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:129500	GJB6	10804	HP:0000518	Cataract
OMIM:129500	GJB6	10804	HP:0001806	Onycholysis
OMIM:129500	GJB6	10804	HP:0002217	Slow-growing hair
OMIM:129500	GJB6	10804	HP:0002555	Absent pubic hair
OMIM:129500	GJB6	10804	HP:0008404	Nail dystrophy
OMIM:129500	GJB6	10804	HP:0002299	Brittle hair
OMIM:129500	GJB6	10804	HP:0007418	Alopecia totalis
OMIM:129500	GJB6	10804	HP:0004322	Short stature
OMIM:129500	GJB6	10804	HP:0000486	Strabismus
OMIM:129500	GJB6	10804	HP:0000968	Ectodermal dysplasia
OMIM:129500	GJB6	10804	HP:0000972	Palmoplantar hyperkeratosis
OMIM:129500	GJB6	10804	HP:0000498	Blepharitis
OMIM:129500	GJB6	10804	HP:0000613	Photophobia
OMIM:129500	GJB6	10804	HP:0000653	Sparse eyelashes
OMIM:129500	GJB6	10804	HP:0000953	Hyperpigmentation of the skin
OMIM:129500	GJB6	10804	HP:0001792	Small nail
OMIM:129500	GJB6	10804	HP:0003828	Variable expressivity
OMIM:129500	GJB6	10804	HP:0000535	Sparse and thin eyebrow
OMIM:129500	GJB6	10804	HP:0002164	Nail dysplasia
OMIM:129500	GJB6	10804	HP:0000164	Abnormality of the dentition
OMIM:129500	GJB6	10804	HP:0002213	Fine hair
OMIM:129500	GJB6	10804	HP:0002221	Absent axillary hair
OMIM:129500	GJB6	10804	HP:0000509	Conjunctivitis
ORPHA:1194	TMEM70	54968	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:1194	TMEM70	54968	HP:0001987	Hyperammonemia
ORPHA:1194	TMEM70	54968	HP:0000028	Cryptorchidism
ORPHA:1194	TMEM70	54968	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:1194	TMEM70	54968	HP:0003535	3-Methylglutaconic aciduria
ORPHA:1194	TMEM70	54968	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:1194	TMEM70	54968	HP:0000252	Microcephaly
ORPHA:1194	TMEM70	54968	HP:0002120	Cerebral cortical atrophy
ORPHA:1194	TMEM70	54968	HP:0002383	Encephalitis
ORPHA:1194	TMEM70	54968	HP:0000369	Low-set ears
ORPHA:1194	TMEM70	54968	HP:0002240	Hepatomegaly
ORPHA:1194	TMEM70	54968	HP:0001646	Abnormality of the aortic valve
ORPHA:1194	TMEM70	54968	HP:0000154	Wide mouth
ORPHA:1194	TMEM70	54968	HP:0002342	Intellectual disability, moderate
ORPHA:1194	TMEM70	54968	HP:0000322	Short philtrum
ORPHA:1194	TMEM70	54968	HP:0001252	Muscular hypotonia
ORPHA:1194	TMEM70	54968	HP:0001562	Oligohydramnios
ORPHA:1194	TMEM70	54968	HP:0011343	Moderate global developmental delay
ORPHA:1194	TMEM70	54968	HP:0000278	Retrognathia
ORPHA:1194	TMEM70	54968	HP:0100490	Camptodactyly of finger
ORPHA:1194	TMEM70	54968	HP:0001522	Death in infancy
ORPHA:1194	TMEM70	54968	HP:0000047	Hypospadias
ORPHA:1194	TMEM70	54968	HP:0001511	Intrauterine growth retardation
ORPHA:1194	TMEM70	54968	HP:0002878	Respiratory failure
ORPHA:1194	TMEM70	54968	HP:0001635	Congestive heart failure
OMIM:617452	OTUD6B	51633	HP:0002119	Ventriculomegaly
OMIM:617452	OTUD6B	51633	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617452	OTUD6B	51633	HP:0000276	Long face
OMIM:617452	OTUD6B	51633	HP:0000527	Long eyelashes
OMIM:617452	OTUD6B	51633	HP:0000470	Short neck
OMIM:617452	OTUD6B	51633	HP:0004322	Short stature
OMIM:617452	OTUD6B	51633	HP:0000400	Macrotia
OMIM:617452	OTUD6B	51633	HP:0001511	Intrauterine growth retardation
OMIM:617452	OTUD6B	51633	HP:0002650	Scoliosis
OMIM:617452	OTUD6B	51633	HP:0000218	High palate
OMIM:617452	OTUD6B	51633	HP:0000343	Long philtrum
OMIM:617452	OTUD6B	51633	HP:0000369	Low-set ears
OMIM:617452	OTUD6B	51633	HP:0000494	Downslanted palpebral fissures
OMIM:617452	OTUD6B	51633	HP:0000729	Autistic behavior
OMIM:617452	OTUD6B	51633	HP:0001371	Flexion contracture
OMIM:617452	OTUD6B	51633	HP:0000007	Autosomal recessive inheritance
OMIM:617452	OTUD6B	51633	HP:0011304	Broad thumb
OMIM:617452	OTUD6B	51633	HP:0011968	Feeding difficulties
OMIM:617452	OTUD6B	51633	HP:0002540	Inability to walk
OMIM:617452	OTUD6B	51633	HP:0000426	Prominent nasal bridge
OMIM:617452	OTUD6B	51633	HP:0000028	Cryptorchidism
OMIM:617452	OTUD6B	51633	HP:0000219	Thin upper lip vermilion
OMIM:617452	OTUD6B	51633	HP:0001508	Failure to thrive
OMIM:617452	OTUD6B	51633	HP:0002510	Spastic tetraplegia
OMIM:617452	OTUD6B	51633	HP:0010864	Intellectual disability, severe
OMIM:617452	OTUD6B	51633	HP:0000248	Brachycephaly
OMIM:617452	OTUD6B	51633	HP:0000960	Sacral dimple
OMIM:617452	OTUD6B	51633	HP:0005469	Flat occiput
OMIM:617452	OTUD6B	51633	HP:0001845	Overlapping toe
OMIM:617452	OTUD6B	51633	HP:0002553	Highly arched eyebrow
OMIM:617452	OTUD6B	51633	HP:0001290	Generalized hypotonia
OMIM:617452	OTUD6B	51633	HP:0000431	Wide nasal bridge
OMIM:617452	OTUD6B	51633	HP:0001263	Global developmental delay
OMIM:617452	OTUD6B	51633	HP:0000252	Microcephaly
OMIM:617452	OTUD6B	51633	HP:0001762	Talipes equinovarus
OMIM:617452	OTUD6B	51633	HP:0000278	Retrognathia
OMIM:617452	OTUD6B	51633	HP:0001182	Tapered finger
OMIM:617452	OTUD6B	51633	HP:0000411	Protruding ear
OMIM:617452	OTUD6B	51633	HP:0000637	Long palpebral fissure
OMIM:617452	OTUD6B	51633	HP:0003812	Phenotypic variability
OMIM:617452	OTUD6B	51633	HP:0000365	Hearing impairment
OMIM:607624	RAB27A	5873	HP:0001257	Spasticity
OMIM:607624	RAB27A	5873	HP:0001010	Hypopigmentation of the skin
OMIM:607624	RAB27A	5873	HP:0000007	Autosomal recessive inheritance
OMIM:607624	RAB27A	5873	HP:0002718	Recurrent bacterial infections
OMIM:607624	RAB27A	5873	HP:0001250	Seizures
OMIM:607624	RAB27A	5873	HP:0001317	Abnormality of the cerebellum
OMIM:607624	RAB27A	5873	HP:0002220	Melanin pigment aggregation in hair shafts
OMIM:607624	RAB27A	5873	HP:0002218	Silver-gray hair
OMIM:607624	RAB27A	5873	HP:0003819	Death in childhood
OMIM:607624	RAB27A	5873	HP:0003593	Infantile onset
OMIM:607624	RAB27A	5873	HP:0002972	Reduced delayed hypersensitivity
OMIM:607624	RAB27A	5873	HP:0001008	Accumulation of melanosomes in melanocytes
OMIM:601596	SH3TC2	79628	HP:0007107	Segmental peripheral demyelination
OMIM:601596	SH3TC2	79628	HP:0002355	Difficulty walking
OMIM:601596	SH3TC2	79628	HP:0003400	Basal lamina 'onion bulb' formation
OMIM:601596	SH3TC2	79628	HP:0001308	Tongue fasciculations
OMIM:601596	SH3TC2	79628	HP:0002460	Distal muscle weakness
OMIM:601596	SH3TC2	79628	HP:0000007	Autosomal recessive inheritance
OMIM:601596	SH3TC2	79628	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:601596	SH3TC2	79628	HP:0012473	Tongue atrophy
OMIM:601596	SH3TC2	79628	HP:0003484	Upper limb muscle weakness
OMIM:601596	SH3TC2	79628	HP:0003812	Phenotypic variability
OMIM:601596	SH3TC2	79628	HP:0003693	Distal amyotrophy
OMIM:601596	SH3TC2	79628	HP:0001761	Pes cavus
OMIM:601596	SH3TC2	79628	HP:0002936	Distal sensory impairment
OMIM:601596	SH3TC2	79628	HP:0007695	Abnormal pupillary light reflex
OMIM:601596	SH3TC2	79628	HP:0000764	Peripheral axonal degeneration
OMIM:601596	SH3TC2	79628	HP:0001270	Motor delay
OMIM:601596	SH3TC2	79628	HP:0002650	Scoliosis
OMIM:601596	SH3TC2	79628	HP:0000365	Hearing impairment
OMIM:601596	SH3TC2	79628	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601596	SH3TC2	79628	HP:0001425	Heterogeneous
OMIM:601596	SH3TC2	79628	HP:0000639	Nystagmus
OMIM:601596	SH3TC2	79628	HP:0010628	Facial palsy
OMIM:601596	SH3TC2	79628	HP:0004466	Prolonged brainstem auditory evoked potentials
OMIM:607685	PDGFRA	5156	HP:0000707	Abnormality of the nervous system
OMIM:607685	PDGFRA	5156	HP:0004936	Venous thrombosis
OMIM:607685	PDGFRA	5156	HP:0006685	Endocardial fibrosis
OMIM:607685	PDGFRA	5156	HP:0003745	Sporadic
OMIM:607685	PDGFRA	5156	HP:0001428	Somatic mutation
OMIM:607685	PDGFRA	5156	HP:0003326	Myalgia
OMIM:607685	PDGFRA	5156	HP:0000989	Pruritus
OMIM:607685	PDGFRA	5156	HP:0001744	Splenomegaly
OMIM:607685	PDGFRA	5156	HP:0002240	Hepatomegaly
OMIM:607685	PDGFRA	5156	HP:0005547	Myeloproliferative disorder
OMIM:607685	PDGFRA	5156	HP:0001723	Restrictive cardiomyopathy
OMIM:607685	PDGFRA	5156	HP:0002113	Pulmonary infiltrates
OMIM:607685	PDGFRA	5156	HP:0001880	Eosinophilia
OMIM:614077	BLOC1S3	388552	HP:0001107	Ocular albinism
OMIM:614077	BLOC1S3	388552	HP:0000978	Bruising susceptibility
OMIM:614077	BLOC1S3	388552	HP:0000505	Visual impairment
OMIM:614077	BLOC1S3	388552	HP:0001022	Albinism
OMIM:614077	BLOC1S3	388552	HP:0000007	Autosomal recessive inheritance
OMIM:616873	IKZF1	10320	HP:0000006	Autosomal dominant inheritance
OMIM:616873	IKZF1	10320	HP:0004313	Decreased antibody level in blood
OMIM:616873	IKZF1	10320	HP:0002718	Recurrent bacterial infections
OMIM:616873	IKZF1	10320	HP:0010976	B lymphocytopenia
OMIM:616873	IKZF1	10320	HP:0003829	Incomplete penetrance
ORPHA:2614	LMX1B	4010	HP:0001807	Ridged nail
ORPHA:2614	LMX1B	4010	HP:0006650	Thickening of the lateral border of the scapula
ORPHA:2614	LMX1B	4010	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:2614	LMX1B	4010	HP:0002967	Cubitus valgus
ORPHA:2614	LMX1B	4010	HP:0001386	Joint swelling
ORPHA:2614	LMX1B	4010	HP:0001598	Concave nail
ORPHA:2614	LMX1B	4010	HP:0009780	Iliac horns
ORPHA:2614	LMX1B	4010	HP:0001800	Hypoplastic toenails
ORPHA:2614	LMX1B	4010	HP:0002652	Skeletal dysplasia
ORPHA:2614	LMX1B	4010	HP:0000100	Nephrotic syndrome
ORPHA:2614	LMX1B	4010	HP:0002999	Patellar dislocation
ORPHA:2614	LMX1B	4010	HP:0100777	Exostoses
ORPHA:2614	LMX1B	4010	HP:0002758	Osteoarthritis
ORPHA:2614	LMX1B	4010	HP:0005692	Joint hyperflexibility
ORPHA:2614	LMX1B	4010	HP:0001231	Abnormality of the fingernails
ORPHA:2614	LMX1B	4010	HP:0001387	Joint stiffness
ORPHA:2614	LMX1B	4010	HP:0000093	Proteinuria
OMIM:616116	NDST1	3340	HP:0002360	Sleep disturbance
OMIM:616116	NDST1	3340	HP:0001249	Intellectual disability
OMIM:616116	NDST1	3340	HP:0002465	Poor speech
OMIM:616116	NDST1	3340	HP:0000713	Agitation
OMIM:616116	NDST1	3340	HP:0000718	Aggressive behavior
OMIM:616116	NDST1	3340	HP:0001510	Growth delay
OMIM:616116	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:616116	NDST1	3340	HP:0001263	Global developmental delay
OMIM:616116	NDST1	3340	HP:0001290	Generalized hypotonia
ORPHA:551	TRNH	4564	HP:0001012	Multiple lipomas
ORPHA:551	TRNH	4564	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNH	4564	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNH	4564	HP:0100022	Abnormality of movement
ORPHA:551	TRNH	4564	HP:0004322	Short stature
ORPHA:551	TRNH	4564	HP:0100543	Cognitive impairment
ORPHA:551	TRNH	4564	HP:0003457	EMG abnormality
ORPHA:551	TRNH	4564	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNH	4564	HP:0003198	Myopathy
ORPHA:551	TRNH	4564	HP:0001251	Ataxia
ORPHA:551	TRNH	4564	HP:0000648	Optic atrophy
ORPHA:551	RNR1	4549	HP:0001012	Multiple lipomas
ORPHA:551	RNR1	4549	HP:0003200	Ragged-red muscle fibers
ORPHA:551	RNR1	4549	HP:0002123	Generalized myoclonic seizures
ORPHA:551	RNR1	4549	HP:0100022	Abnormality of movement
ORPHA:551	RNR1	4549	HP:0004322	Short stature
ORPHA:551	RNR1	4549	HP:0100543	Cognitive impairment
ORPHA:551	RNR1	4549	HP:0003457	EMG abnormality
ORPHA:551	RNR1	4549	HP:0000407	Sensorineural hearing impairment
ORPHA:551	RNR1	4549	HP:0003198	Myopathy
ORPHA:551	RNR1	4549	HP:0001251	Ataxia
ORPHA:551	RNR1	4549	HP:0000648	Optic atrophy
ORPHA:551	TRNK	4566	HP:0001012	Multiple lipomas
ORPHA:551	TRNK	4566	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNK	4566	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNK	4566	HP:0100022	Abnormality of movement
ORPHA:551	TRNK	4566	HP:0004322	Short stature
ORPHA:551	TRNK	4566	HP:0100543	Cognitive impairment
ORPHA:551	TRNK	4566	HP:0003457	EMG abnormality
ORPHA:551	TRNK	4566	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNK	4566	HP:0003198	Myopathy
ORPHA:551	TRNK	4566	HP:0001251	Ataxia
ORPHA:551	TRNK	4566	HP:0000648	Optic atrophy
ORPHA:551	TRNL1	4567	HP:0001012	Multiple lipomas
ORPHA:551	TRNL1	4567	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNL1	4567	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNL1	4567	HP:0100022	Abnormality of movement
ORPHA:551	TRNL1	4567	HP:0004322	Short stature
ORPHA:551	TRNL1	4567	HP:0100543	Cognitive impairment
ORPHA:551	TRNL1	4567	HP:0003457	EMG abnormality
ORPHA:551	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNL1	4567	HP:0003198	Myopathy
ORPHA:551	TRNL1	4567	HP:0001251	Ataxia
ORPHA:551	TRNL1	4567	HP:0000648	Optic atrophy
ORPHA:551	TRNP	4571	HP:0001012	Multiple lipomas
ORPHA:551	TRNP	4571	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNP	4571	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNP	4571	HP:0100022	Abnormality of movement
ORPHA:551	TRNP	4571	HP:0004322	Short stature
ORPHA:551	TRNP	4571	HP:0100543	Cognitive impairment
ORPHA:551	TRNP	4571	HP:0003457	EMG abnormality
ORPHA:551	TRNP	4571	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNP	4571	HP:0003198	Myopathy
ORPHA:551	TRNP	4571	HP:0001251	Ataxia
ORPHA:551	TRNP	4571	HP:0000648	Optic atrophy
ORPHA:551	ND5	4540	HP:0001012	Multiple lipomas
ORPHA:551	ND5	4540	HP:0003200	Ragged-red muscle fibers
ORPHA:551	ND5	4540	HP:0002123	Generalized myoclonic seizures
ORPHA:551	ND5	4540	HP:0100022	Abnormality of movement
ORPHA:551	ND5	4540	HP:0004322	Short stature
ORPHA:551	ND5	4540	HP:0100543	Cognitive impairment
ORPHA:551	ND5	4540	HP:0003457	EMG abnormality
ORPHA:551	ND5	4540	HP:0000407	Sensorineural hearing impairment
ORPHA:551	ND5	4540	HP:0003198	Myopathy
ORPHA:551	ND5	4540	HP:0001251	Ataxia
ORPHA:551	ND5	4540	HP:0000648	Optic atrophy
ORPHA:551	TRNQ	4572	HP:0001012	Multiple lipomas
ORPHA:551	TRNQ	4572	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNQ	4572	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNQ	4572	HP:0100022	Abnormality of movement
ORPHA:551	TRNQ	4572	HP:0004322	Short stature
ORPHA:551	TRNQ	4572	HP:0100543	Cognitive impairment
ORPHA:551	TRNQ	4572	HP:0003457	EMG abnormality
ORPHA:551	TRNQ	4572	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNQ	4572	HP:0003198	Myopathy
ORPHA:551	TRNQ	4572	HP:0001251	Ataxia
ORPHA:551	TRNQ	4572	HP:0000648	Optic atrophy
ORPHA:551	TRNS1	4574	HP:0001012	Multiple lipomas
ORPHA:551	TRNS1	4574	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNS1	4574	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNS1	4574	HP:0100022	Abnormality of movement
ORPHA:551	TRNS1	4574	HP:0004322	Short stature
ORPHA:551	TRNS1	4574	HP:0100543	Cognitive impairment
ORPHA:551	TRNS1	4574	HP:0003457	EMG abnormality
ORPHA:551	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNS1	4574	HP:0003198	Myopathy
ORPHA:551	TRNS1	4574	HP:0001251	Ataxia
ORPHA:551	TRNS1	4574	HP:0000648	Optic atrophy
ORPHA:551	TRNF	4558	HP:0001012	Multiple lipomas
ORPHA:551	TRNF	4558	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNF	4558	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNF	4558	HP:0100022	Abnormality of movement
ORPHA:551	TRNF	4558	HP:0004322	Short stature
ORPHA:551	TRNF	4558	HP:0100543	Cognitive impairment
ORPHA:551	TRNF	4558	HP:0003457	EMG abnormality
ORPHA:551	TRNF	4558	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNF	4558	HP:0003198	Myopathy
ORPHA:551	TRNF	4558	HP:0001251	Ataxia
ORPHA:551	TRNF	4558	HP:0000648	Optic atrophy
ORPHA:551	TRNS2	4575	HP:0001012	Multiple lipomas
ORPHA:551	TRNS2	4575	HP:0003200	Ragged-red muscle fibers
ORPHA:551	TRNS2	4575	HP:0002123	Generalized myoclonic seizures
ORPHA:551	TRNS2	4575	HP:0100022	Abnormality of movement
ORPHA:551	TRNS2	4575	HP:0004322	Short stature
ORPHA:551	TRNS2	4575	HP:0100543	Cognitive impairment
ORPHA:551	TRNS2	4575	HP:0003457	EMG abnormality
ORPHA:551	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
ORPHA:551	TRNS2	4575	HP:0003198	Myopathy
ORPHA:551	TRNS2	4575	HP:0001251	Ataxia
ORPHA:551	TRNS2	4575	HP:0000648	Optic atrophy
OMIM:600975	TEK	7010	HP:0000007	Autosomal recessive inheritance
OMIM:600975	TEK	7010	HP:0008007	Primary congenital glaucoma
OMIM:600975	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:600975	LTBP2	4053	HP:0008007	Primary congenital glaucoma
OMIM:600975	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:600975	CYP1B1	1545	HP:0008007	Primary congenital glaucoma
OMIM:613875	CALR3	125972	HP:0000006	Autosomal dominant inheritance
OMIM:613875	CALR3	125972	HP:0001670	Asymmetric septal hypertrophy
OMIM:615285	VPS45	11311	HP:0001978	Extramedullary hematopoiesis
OMIM:615285	VPS45	11311	HP:0001873	Thrombocytopenia
OMIM:615285	VPS45	11311	HP:0001508	Failure to thrive
OMIM:615285	VPS45	11311	HP:0001903	Anemia
OMIM:615285	VPS45	11311	HP:0001882	Leukopenia
OMIM:615285	VPS45	11311	HP:0000007	Autosomal recessive inheritance
OMIM:615285	VPS45	11311	HP:0003593	Infantile onset
OMIM:615285	VPS45	11311	HP:0010702	Increased antibody level in blood
OMIM:615285	VPS45	11311	HP:0002240	Hepatomegaly
OMIM:615285	VPS45	11311	HP:0001875	Neutropenia
OMIM:615285	VPS45	11311	HP:0001744	Splenomegaly
OMIM:616299	LIPT1	51601	HP:0012448	Delayed myelination
OMIM:616299	LIPT1	51601	HP:0003573	Increased total bilirubin
OMIM:616299	LIPT1	51601	HP:0000007	Autosomal recessive inheritance
OMIM:616299	LIPT1	51601	HP:0002092	Pulmonary arterial hypertension
OMIM:616299	LIPT1	51601	HP:0003128	Lactic acidosis
OMIM:616299	LIPT1	51601	HP:0001332	Dystonia
OMIM:616299	LIPT1	51601	HP:0001272	Cerebellar atrophy
OMIM:616299	LIPT1	51601	HP:0001522	Death in infancy
OMIM:616299	LIPT1	51601	HP:0001263	Global developmental delay
OMIM:616299	LIPT1	51601	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:616299	LIPT1	51601	HP:0003593	Infantile onset
OMIM:616299	LIPT1	51601	HP:0008936	Muscular hypotonia of the trunk
OMIM:616299	LIPT1	51601	HP:0001662	Bradycardia
OMIM:616299	LIPT1	51601	HP:0002500	Abnormality of the cerebral white matter
OMIM:616299	LIPT1	51601	HP:0002910	Elevated hepatic transaminases
OMIM:616299	LIPT1	51601	HP:0001285	Spastic tetraparesis
OMIM:616299	LIPT1	51601	HP:0001410	Decreased liver function
OMIM:616299	LIPT1	51601	HP:0002151	Increased serum lactate
OMIM:209950	IFNGR1	3459	HP:0000007	Autosomal recessive inheritance
OMIM:209950	IFNGR1	3459	HP:0001438	Abnormality of abdomen morphology
OMIM:209950	IFNGR1	3459	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:209950	IFNGR1	3459	HP:0005661	Salmonella osteomyelitis
OMIM:615537	ADAM10	102	HP:0000006	Autosomal dominant inheritance
OMIM:615352	GMPPB	29925	HP:0003546	Exercise intolerance
OMIM:615352	GMPPB	29925	HP:0001290	Generalized hypotonia
OMIM:615352	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615352	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615352	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:615352	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:615352	GMPPB	29925	HP:0003828	Variable expressivity
OMIM:615352	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615352	GMPPB	29925	HP:0003701	Proximal muscle weakness
OMIM:229200	ZNF469	84627	HP:0002297	Red hair
OMIM:229200	ZNF469	84627	HP:0002650	Scoliosis
OMIM:229200	ZNF469	84627	HP:0003302	Spondylolisthesis
OMIM:229200	ZNF469	84627	HP:0001388	Joint laxity
OMIM:229200	ZNF469	84627	HP:0000286	Epicanthus
OMIM:229200	ZNF469	84627	HP:0000256	Macrocephaly
OMIM:229200	ZNF469	84627	HP:0000572	Visual loss
OMIM:229200	ZNF469	84627	HP:0001119	Keratoglobus
OMIM:229200	ZNF469	84627	HP:0100689	Decreased corneal thickness
OMIM:229200	ZNF469	84627	HP:0001374	Congenital hip dislocation
OMIM:229200	ZNF469	84627	HP:0000365	Hearing impairment
OMIM:229200	ZNF469	84627	HP:0000563	Keratoconus
OMIM:229200	ZNF469	84627	HP:0000987	Atypical scarring of skin
OMIM:229200	ZNF469	84627	HP:0001519	Disproportionate tall stature
OMIM:229200	ZNF469	84627	HP:0000007	Autosomal recessive inheritance
OMIM:229200	ZNF469	84627	HP:0000703	Dentinogenesis imperfecta
OMIM:229200	ZNF469	84627	HP:0000545	Myopia
OMIM:229200	ZNF469	84627	HP:0007517	Palmoplantar cutis laxa
OMIM:229200	ZNF469	84627	HP:0000592	Blue sclerae
OMIM:229200	ZNF469	84627	HP:0000993	Molluscoid pseudotumors
OMIM:229200	ZNF469	84627	HP:0001634	Mitral valve prolapse
ORPHA:827	ELOVL4	6785	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:827	ELOVL4	6785	HP:0007814	Retinal pigment epithelial mottling
ORPHA:827	ELOVL4	6785	HP:0000610	Abnormality of the choroid
ORPHA:827	ELOVL4	6785	HP:0030329	Retinal thinning
ORPHA:827	ELOVL4	6785	HP:0000603	Central scotoma
ORPHA:827	ELOVL4	6785	HP:0000551	Abnormality of color vision
ORPHA:827	ELOVL4	6785	HP:0000493	Abnormality of the fovea
ORPHA:827	ELOVL4	6785	HP:0030500	Yellow/white lesions of the macula
ORPHA:827	ELOVL4	6785	HP:0000608	Macular degeneration
ORPHA:827	ELOVL4	6785	HP:0000649	Abnormality of visual evoked potentials
ORPHA:827	ELOVL4	6785	HP:0000662	Nyctalopia
ORPHA:827	ELOVL4	6785	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:827	ELOVL4	6785	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:827	ELOVL4	6785	HP:0007663	Reduced visual acuity
ORPHA:827	ELOVL4	6785	HP:0008002	Abnormality of macular pigmentation
ORPHA:827	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:827	ABCA4	24	HP:0007814	Retinal pigment epithelial mottling
ORPHA:827	ABCA4	24	HP:0000610	Abnormality of the choroid
ORPHA:827	ABCA4	24	HP:0030329	Retinal thinning
ORPHA:827	ABCA4	24	HP:0000603	Central scotoma
ORPHA:827	ABCA4	24	HP:0000551	Abnormality of color vision
ORPHA:827	ABCA4	24	HP:0000493	Abnormality of the fovea
ORPHA:827	ABCA4	24	HP:0030500	Yellow/white lesions of the macula
ORPHA:827	ABCA4	24	HP:0000608	Macular degeneration
ORPHA:827	ABCA4	24	HP:0000649	Abnormality of visual evoked potentials
ORPHA:827	ABCA4	24	HP:0000662	Nyctalopia
ORPHA:827	ABCA4	24	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:827	ABCA4	24	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:827	ABCA4	24	HP:0007663	Reduced visual acuity
ORPHA:827	ABCA4	24	HP:0008002	Abnormality of macular pigmentation
ORPHA:827	PRPH2	5961	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:827	PRPH2	5961	HP:0007814	Retinal pigment epithelial mottling
ORPHA:827	PRPH2	5961	HP:0000610	Abnormality of the choroid
ORPHA:827	PRPH2	5961	HP:0030329	Retinal thinning
ORPHA:827	PRPH2	5961	HP:0000603	Central scotoma
ORPHA:827	PRPH2	5961	HP:0000551	Abnormality of color vision
ORPHA:827	PRPH2	5961	HP:0000493	Abnormality of the fovea
ORPHA:827	PRPH2	5961	HP:0030500	Yellow/white lesions of the macula
ORPHA:827	PRPH2	5961	HP:0000608	Macular degeneration
ORPHA:827	PRPH2	5961	HP:0000649	Abnormality of visual evoked potentials
ORPHA:827	PRPH2	5961	HP:0000662	Nyctalopia
ORPHA:827	PRPH2	5961	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:827	PRPH2	5961	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:827	PRPH2	5961	HP:0007663	Reduced visual acuity
ORPHA:827	PRPH2	5961	HP:0008002	Abnormality of macular pigmentation
ORPHA:827	CNGB3	54714	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:827	CNGB3	54714	HP:0007814	Retinal pigment epithelial mottling
ORPHA:827	CNGB3	54714	HP:0000610	Abnormality of the choroid
ORPHA:827	CNGB3	54714	HP:0030329	Retinal thinning
ORPHA:827	CNGB3	54714	HP:0000603	Central scotoma
ORPHA:827	CNGB3	54714	HP:0000551	Abnormality of color vision
ORPHA:827	CNGB3	54714	HP:0000493	Abnormality of the fovea
ORPHA:827	CNGB3	54714	HP:0030500	Yellow/white lesions of the macula
ORPHA:827	CNGB3	54714	HP:0000608	Macular degeneration
ORPHA:827	CNGB3	54714	HP:0000649	Abnormality of visual evoked potentials
ORPHA:827	CNGB3	54714	HP:0000662	Nyctalopia
ORPHA:827	CNGB3	54714	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:827	CNGB3	54714	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:827	CNGB3	54714	HP:0007663	Reduced visual acuity
ORPHA:827	CNGB3	54714	HP:0008002	Abnormality of macular pigmentation
ORPHA:827	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
ORPHA:827	PROM1	8842	HP:0007814	Retinal pigment epithelial mottling
ORPHA:827	PROM1	8842	HP:0000610	Abnormality of the choroid
ORPHA:827	PROM1	8842	HP:0030329	Retinal thinning
ORPHA:827	PROM1	8842	HP:0000603	Central scotoma
ORPHA:827	PROM1	8842	HP:0000551	Abnormality of color vision
ORPHA:827	PROM1	8842	HP:0000493	Abnormality of the fovea
ORPHA:827	PROM1	8842	HP:0030500	Yellow/white lesions of the macula
ORPHA:827	PROM1	8842	HP:0000608	Macular degeneration
ORPHA:827	PROM1	8842	HP:0000649	Abnormality of visual evoked potentials
ORPHA:827	PROM1	8842	HP:0000662	Nyctalopia
ORPHA:827	PROM1	8842	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:827	PROM1	8842	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:827	PROM1	8842	HP:0007663	Reduced visual acuity
ORPHA:827	PROM1	8842	HP:0008002	Abnormality of macular pigmentation
OMIM:604387	NPHP3	27031	HP:0000103	Polyuria
OMIM:604387	NPHP3	27031	HP:0005576	Tubulointerstitial fibrosis
OMIM:604387	NPHP3	27031	HP:0000092	Tubular atrophy
OMIM:604387	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:604387	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:604387	NPHP3	27031	HP:0000083	Renal insufficiency
OMIM:604387	NPHP3	27031	HP:0000108	Renal corticomedullary cysts
OMIM:604387	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:604387	NPHP3	27031	HP:0001959	Polydipsia
OMIM:604387	NPHP3	27031	HP:0000805	Enuresis
ORPHA:805	TSC1	7248	HP:0001052	Nevus flammeus
ORPHA:805	TSC1	7248	HP:0001263	Global developmental delay
ORPHA:805	TSC1	7248	HP:0010609	Skin tags
ORPHA:805	TSC1	7248	HP:0009718	Subependymal giant-cell astrocytoma
ORPHA:805	TSC1	7248	HP:0001249	Intellectual disability
ORPHA:805	TSC1	7248	HP:0100804	Ungual fibroma
ORPHA:805	TSC1	7248	HP:0000269	Prominent occiput
ORPHA:805	TSC1	7248	HP:0009594	Retinal hamartoma
ORPHA:805	TSC1	7248	HP:0001250	Seizures
ORPHA:805	TSC1	7248	HP:0007565	Multiple cafe-au-lait spots
ORPHA:805	TSC1	7248	HP:0009721	Shagreen patch
ORPHA:805	TSC1	7248	HP:0010615	Angiofibromas
ORPHA:805	TSC1	7248	HP:0009727	Achromatic retinal patches
ORPHA:805	TSC1	7248	HP:0002539	Cortical dysplasia
ORPHA:805	TSC1	7248	HP:0009716	Subependymal nodules
ORPHA:805	TSC1	7248	HP:0007449	Confetti-like hypopigmented macules
ORPHA:805	TSC1	7248	HP:0001053	Hypopigmented skin patches
ORPHA:805	TSC1	7248	HP:0002353	EEG abnormality
ORPHA:805	TSC1	7248	HP:0200034	Papule
ORPHA:805	TSC1	7248	HP:0000648	Optic atrophy
ORPHA:805	TSC1	7248	HP:0000708	Behavioral abnormality
ORPHA:805	TSC2	7249	HP:0001052	Nevus flammeus
ORPHA:805	TSC2	7249	HP:0001263	Global developmental delay
ORPHA:805	TSC2	7249	HP:0010609	Skin tags
ORPHA:805	TSC2	7249	HP:0009718	Subependymal giant-cell astrocytoma
ORPHA:805	TSC2	7249	HP:0001249	Intellectual disability
ORPHA:805	TSC2	7249	HP:0100804	Ungual fibroma
ORPHA:805	TSC2	7249	HP:0000269	Prominent occiput
ORPHA:805	TSC2	7249	HP:0009594	Retinal hamartoma
ORPHA:805	TSC2	7249	HP:0001250	Seizures
ORPHA:805	TSC2	7249	HP:0007565	Multiple cafe-au-lait spots
ORPHA:805	TSC2	7249	HP:0009721	Shagreen patch
ORPHA:805	TSC2	7249	HP:0010615	Angiofibromas
ORPHA:805	TSC2	7249	HP:0009727	Achromatic retinal patches
ORPHA:805	TSC2	7249	HP:0002539	Cortical dysplasia
ORPHA:805	TSC2	7249	HP:0009716	Subependymal nodules
ORPHA:805	TSC2	7249	HP:0007449	Confetti-like hypopigmented macules
ORPHA:805	TSC2	7249	HP:0001053	Hypopigmented skin patches
ORPHA:805	TSC2	7249	HP:0002353	EEG abnormality
ORPHA:805	TSC2	7249	HP:0200034	Papule
ORPHA:805	TSC2	7249	HP:0000648	Optic atrophy
ORPHA:805	TSC2	7249	HP:0000708	Behavioral abnormality
OMIM:616509	LSS	4047	HP:0000519	Congenital cataract
OMIM:616509	LSS	4047	HP:0000572	Visual loss
OMIM:616509	LSS	4047	HP:0000007	Autosomal recessive inheritance
OMIM:300438	HSD17B10	3028	HP:0000407	Sensorineural hearing impairment
OMIM:300438	HSD17B10	3028	HP:0000546	Retinal degeneration
OMIM:300438	HSD17B10	3028	HP:0003812	Phenotypic variability
OMIM:300438	HSD17B10	3028	HP:0001423	X-linked dominant inheritance
OMIM:300438	HSD17B10	3028	HP:0003128	Lactic acidosis
OMIM:300438	HSD17B10	3028	HP:0002510	Spastic tetraplegia
OMIM:300438	HSD17B10	3028	HP:0001942	Metabolic acidosis
OMIM:300438	HSD17B10	3028	HP:0001260	Dysarthria
OMIM:300438	HSD17B10	3028	HP:0000572	Visual loss
OMIM:300438	HSD17B10	3028	HP:0000718	Aggressive behavior
OMIM:300438	HSD17B10	3028	HP:0002120	Cerebral cortical atrophy
OMIM:300438	HSD17B10	3028	HP:0001249	Intellectual disability
OMIM:300438	HSD17B10	3028	HP:0000750	Delayed speech and language development
OMIM:300438	HSD17B10	3028	HP:0001290	Generalized hypotonia
OMIM:300438	HSD17B10	3028	HP:0001250	Seizures
OMIM:300438	HSD17B10	3028	HP:0002344	Progressive neurologic deterioration
OMIM:300438	HSD17B10	3028	HP:0003593	Infantile onset
OMIM:300438	HSD17B10	3028	HP:0001943	Hypoglycemia
OMIM:300438	HSD17B10	3028	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300438	HSD17B10	3028	HP:0002376	Developmental regression
OMIM:300438	HSD17B10	3028	HP:0001266	Choreoathetosis
OMIM:300438	HSD17B10	3028	HP:0000713	Agitation
OMIM:300438	HSD17B10	3028	HP:0001263	Global developmental delay
OMIM:300438	HSD17B10	3028	HP:0000639	Nystagmus
OMIM:300438	HSD17B10	3028	HP:0000648	Optic atrophy
ORPHA:168829	BRCA1	672	HP:0002664	Neoplasm
ORPHA:168829	BRCA1	672	HP:0002586	Peritonitis
ORPHA:168829	BRCA1	672	HP:0002027	Abdominal pain
ORPHA:168829	BRCA1	672	HP:0002017	Nausea and vomiting
ORPHA:168829	BRCA1	672	HP:0002019	Constipation
ORPHA:168829	BRCA1	672	HP:0003270	Abdominal distention
ORPHA:397685	PRLR	5618	HP:0012886	Hemorrhagic ovarian cyst
ORPHA:397685	PRLR	5618	HP:0100829	Galactorrhea
ORPHA:397685	PRLR	5618	HP:0000789	Infertility
ORPHA:397685	PRLR	5618	HP:0000141	Amenorrhea
ORPHA:397685	PRLR	5618	HP:0000876	Oligomenorrhea
OMIM:270420	SPINT2	10653	HP:0003270	Abdominal distention
OMIM:270420	SPINT2	10653	HP:0200020	Corneal erosion
OMIM:270420	SPINT2	10653	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270420	SPINT2	10653	HP:0000007	Autosomal recessive inheritance
OMIM:270420	SPINT2	10653	HP:0000453	Choanal atresia
OMIM:270420	SPINT2	10653	HP:0005208	Secretory diarrhea
OMIM:270420	SPINT2	10653	HP:0001561	Polyhydramnios
OMIM:270420	SPINT2	10653	HP:0000316	Hypertelorism
OMIM:115195	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:115195	TNNT2	7139	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610883	FLCN	201163	HP:0000337	Broad forehead
OMIM:610883	FLCN	201163	HP:0012448	Delayed myelination
OMIM:610883	FLCN	201163	HP:0003812	Phenotypic variability
OMIM:610883	FLCN	201163	HP:0004322	Short stature
OMIM:610883	FLCN	201163	HP:0000303	Mandibular prognathia
OMIM:610883	FLCN	201163	HP:0000365	Hearing impairment
OMIM:610883	FLCN	201163	HP:0001655	Patent foramen ovale
OMIM:610883	FLCN	201163	HP:0010529	Echolalia
OMIM:610883	FLCN	201163	HP:0000494	Downslanted palpebral fissures
OMIM:610883	FLCN	201163	HP:0003745	Sporadic
OMIM:610883	FLCN	201163	HP:0010863	Receptive language delay
OMIM:610883	FLCN	201163	HP:0002353	EEG abnormality
OMIM:610883	FLCN	201163	HP:0003146	Hypocholesterolemia
OMIM:610883	FLCN	201163	HP:0002650	Scoliosis
OMIM:610883	FLCN	201163	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610883	FLCN	201163	HP:0002357	Dysphasia
OMIM:610883	FLCN	201163	HP:0000689	Dental malocclusion
OMIM:610883	FLCN	201163	HP:0000218	High palate
OMIM:610883	FLCN	201163	HP:0001250	Seizures
OMIM:610883	FLCN	201163	HP:0000678	Dental crowding
OMIM:610883	FLCN	201163	HP:0002463	Language impairment
OMIM:610883	FLCN	201163	HP:0010535	Sleep apnea
OMIM:610883	FLCN	201163	HP:0001263	Global developmental delay
OMIM:610883	FLCN	201163	HP:0001508	Failure to thrive
OMIM:610883	FLCN	201163	HP:0005274	Prominent nasal tip
OMIM:610883	FLCN	201163	HP:0000319	Smooth philtrum
OMIM:610883	FLCN	201163	HP:0001290	Generalized hypotonia
OMIM:610883	FLCN	201163	HP:0012210	Abnormal renal morphology
OMIM:610883	FLCN	201163	HP:0000733	Stereotypy
OMIM:610883	FLCN	201163	HP:0001518	Small for gestational age
OMIM:610883	FLCN	201163	HP:0000717	Autism
OMIM:610883	FLCN	201163	HP:0001626	Abnormality of the cardiovascular system
OMIM:610883	FLCN	201163	HP:0000347	Micrognathia
OMIM:610883	FLCN	201163	HP:0001256	Intellectual disability, mild
OMIM:610883	FLCN	201163	HP:0008872	Feeding difficulties in infancy
OMIM:610883	FLCN	201163	HP:0000325	Triangular face
OMIM:610883	FLCN	201163	HP:0002020	Gastroesophageal reflux
OMIM:610883	FLCN	201163	HP:0200136	Oral-pharyngeal dysphagia
OMIM:610883	FLCN	201163	HP:0000316	Hypertelorism
OMIM:610883	FLCN	201163	HP:0000243	Trigonocephaly
OMIM:610883	FLCN	201163	HP:0002474	Expressive language delay
OMIM:610883	FLCN	201163	HP:0000252	Microcephaly
OMIM:610883	FLCN	201163	HP:0000540	Hypermetropia
OMIM:610883	FLCN	201163	HP:0000817	Poor eye contact
OMIM:610883	FLCN	201163	HP:0000752	Hyperactivity
OMIM:610883	FLCN	201163	HP:0000006	Autosomal dominant inheritance
OMIM:610883	FLCN	201163	HP:0000154	Wide mouth
OMIM:613118	SERPINC1	462	HP:0000007	Autosomal recessive inheritance
OMIM:613118	SERPINC1	462	HP:0001976	Reduced antithrombin III activity
OMIM:613118	SERPINC1	462	HP:0004419	Recurrent thrombophlebitis
OMIM:613118	SERPINC1	462	HP:0005305	Cerebral venous thrombosis
OMIM:613118	SERPINC1	462	HP:0000006	Autosomal dominant inheritance
OMIM:613118	SERPINC1	462	HP:0002625	Deep venous thrombosis
OMIM:613118	SERPINC1	462	HP:0002204	Pulmonary embolism
OMIM:610455	SAMD9	54809	HP:0000230	Gingivitis
OMIM:610455	SAMD9	54809	HP:0003761	Calcinosis
OMIM:610455	SAMD9	54809	HP:0000007	Autosomal recessive inheritance
OMIM:610455	SAMD9	54809	HP:0000951	Abnormality of the skin
OMIM:610455	SAMD9	54809	HP:0000509	Conjunctivitis
OMIM:218400	GJA1	2697	HP:0006384	Club-shaped distal femur
OMIM:218400	GJA1	2697	HP:0000187	Broad alveolar ridges
OMIM:218400	GJA1	2697	HP:0000765	Abnormality of the thorax
OMIM:218400	GJA1	2697	HP:0000316	Hypertelorism
OMIM:218400	GJA1	2697	HP:0000506	Telecanthus
OMIM:218400	GJA1	2697	HP:0009772	Patchy sclerosis of finger phalanx
OMIM:218400	GJA1	2697	HP:0001739	Abnormality of the nasopharynx
OMIM:218400	GJA1	2697	HP:0000280	Coarse facial features
OMIM:218400	GJA1	2697	HP:0000696	Delayed eruption of permanent teeth
OMIM:218400	GJA1	2697	HP:0000431	Wide nasal bridge
OMIM:218400	GJA1	2697	HP:0000256	Macrocephaly
OMIM:218400	GJA1	2697	HP:0000410	Mixed hearing impairment
OMIM:218400	GJA1	2697	HP:0000303	Mandibular prognathia
OMIM:218400	GJA1	2697	HP:0005465	Facial hyperostosis
OMIM:218400	GJA1	2697	HP:0003015	Flared metaphysis
OMIM:218400	GJA1	2697	HP:0000648	Optic atrophy
OMIM:218400	GJA1	2697	HP:0010628	Facial palsy
OMIM:218400	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:218400	GJA1	2697	HP:0100255	Metaphyseal dysplasia
OMIM:218400	GJA1	2697	HP:0001742	Nasal obstruction
OMIM:218400	GJA1	2697	HP:0004407	Bony paranasal bossing
ORPHA:2442	SH2D1A	4068	HP:0001744	Splenomegaly
ORPHA:2442	SH2D1A	4068	HP:0002240	Hepatomegaly
ORPHA:2442	SH2D1A	4068	HP:0005374	Cellular immunodeficiency
ORPHA:2442	SH2D1A	4068	HP:0002665	Lymphoma
ORPHA:2442	SH2D1A	4068	HP:0004313	Decreased antibody level in blood
ORPHA:2442	SH2D1A	4068	HP:0002716	Lymphadenopathy
ORPHA:2442	XIAP	331	HP:0001744	Splenomegaly
ORPHA:2442	XIAP	331	HP:0002240	Hepatomegaly
ORPHA:2442	XIAP	331	HP:0005374	Cellular immunodeficiency
ORPHA:2442	XIAP	331	HP:0002665	Lymphoma
ORPHA:2442	XIAP	331	HP:0004313	Decreased antibody level in blood
ORPHA:2442	XIAP	331	HP:0002716	Lymphadenopathy
OMIM:268210	SLC22A18	5002	HP:0006743	Embryonal rhabdomyosarcoma
OMIM:268210	SLC22A18	5002	HP:0000007	Autosomal recessive inheritance
OMIM:613724	SCP2	6342	HP:0000027	Azoospermia
OMIM:613724	SCP2	6342	HP:0000570	Abnormality of saccadic eye movements
OMIM:613724	SCP2	6342	HP:0002450	Abnormal motor neuron morphology
OMIM:613724	SCP2	6342	HP:0002352	Leukoencephalopathy
OMIM:613724	SCP2	6342	HP:0000007	Autosomal recessive inheritance
OMIM:613724	SCP2	6342	HP:0009830	Peripheral neuropathy
OMIM:613724	SCP2	6342	HP:0002346	Head tremor
OMIM:613724	SCP2	6342	HP:0000473	Torticollis
OMIM:613724	SCP2	6342	HP:0002080	Intention tremor
OMIM:613724	SCP2	6342	HP:0004409	Hyposmia
OMIM:613724	SCP2	6342	HP:0010663	Abnormality of thalamus morphology
OMIM:613724	SCP2	6342	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300534	KDM5C	8242	HP:0010864	Intellectual disability, severe
OMIM:300534	KDM5C	8242	HP:0001762	Talipes equinovarus
OMIM:300534	KDM5C	8242	HP:0000054	Micropenis
OMIM:300534	KDM5C	8242	HP:0000219	Thin upper lip vermilion
OMIM:300534	KDM5C	8242	HP:0001156	Brachydactyly
OMIM:300534	KDM5C	8242	HP:0001419	X-linked recessive inheritance
OMIM:300534	KDM5C	8242	HP:0006887	Intellectual disability, progressive
OMIM:300534	KDM5C	8242	HP:0000400	Macrotia
OMIM:300534	KDM5C	8242	HP:0000028	Cryptorchidism
OMIM:300534	KDM5C	8242	HP:0002362	Shuffling gait
OMIM:300534	KDM5C	8242	HP:0008944	Distal lower limb amyotrophy
OMIM:300534	KDM5C	8242	HP:0000347	Micrognathia
OMIM:300534	KDM5C	8242	HP:0002229	Alopecia areata
OMIM:300534	KDM5C	8242	HP:0007020	Progressive spastic paraplegia
OMIM:300534	KDM5C	8242	HP:0000303	Mandibular prognathia
OMIM:300534	KDM5C	8242	HP:0006895	Lower limb hypertonia
OMIM:300534	KDM5C	8242	HP:0000711	Restlessness
OMIM:300534	KDM5C	8242	HP:0000699	Diastema
OMIM:300534	KDM5C	8242	HP:0001773	Short foot
OMIM:300534	KDM5C	8242	HP:0000327	Hypoplasia of the maxilla
OMIM:300534	KDM5C	8242	HP:0000490	Deeply set eye
OMIM:300534	KDM5C	8242	HP:0000744	Low frustration tolerance
OMIM:300534	KDM5C	8242	HP:0000319	Smooth philtrum
OMIM:300534	KDM5C	8242	HP:0000767	Pectus excavatum
OMIM:300534	KDM5C	8242	HP:0003487	Babinski sign
OMIM:300534	KDM5C	8242	HP:0009882	Short distal phalanx of finger
OMIM:300534	KDM5C	8242	HP:0000540	Hypermetropia
OMIM:300534	KDM5C	8242	HP:0000221	Furrowed tongue
OMIM:300534	KDM5C	8242	HP:0002705	High, narrow palate
OMIM:300534	KDM5C	8242	HP:0000350	Small forehead
OMIM:300534	KDM5C	8242	HP:0002395	Lower limb hyperreflexia
OMIM:300534	KDM5C	8242	HP:0000256	Macrocephaly
OMIM:300534	KDM5C	8242	HP:0001176	Large hands
OMIM:300534	KDM5C	8242	HP:0000545	Myopia
OMIM:300534	KDM5C	8242	HP:0008124	Talipes calcaneovarus
OMIM:300534	KDM5C	8242	HP:0000297	Facial hypotonia
OMIM:300534	KDM5C	8242	HP:0000582	Upslanted palpebral fissure
OMIM:615511	AMPD1	270	HP:0000007	Autosomal recessive inheritance
OMIM:615511	AMPD1	270	HP:0003750	Increased muscle fatiguability
OMIM:615511	AMPD1	270	HP:0001324	Muscle weakness
OMIM:615511	AMPD1	270	HP:0003812	Phenotypic variability
OMIM:615378	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:146700	FLG	2312	HP:0000006	Autosomal dominant inheritance
OMIM:146700	FLG	2312	HP:0002099	Asthma
OMIM:146700	FLG	2312	HP:0000976	Eczematoid dermatitis
OMIM:146700	FLG	2312	HP:0008064	Ichthyosis
ORPHA:1764	ELP1	8518	HP:0001288	Gait disturbance
ORPHA:1764	ELP1	8518	HP:0000708	Behavioral abnormality
ORPHA:1764	ELP1	8518	HP:0000822	Hypertension
ORPHA:1764	ELP1	8518	HP:0003457	EMG abnormality
ORPHA:1764	ELP1	8518	HP:0008872	Feeding difficulties in infancy
ORPHA:1764	ELP1	8518	HP:0001265	Hyporeflexia
ORPHA:1764	ELP1	8518	HP:0002047	Malignant hyperthermia
ORPHA:1764	ELP1	8518	HP:0200020	Corneal erosion
ORPHA:1764	ELP1	8518	HP:0002205	Recurrent respiratory infections
ORPHA:1764	ELP1	8518	HP:0000615	Abnormality of the pupil
ORPHA:1764	ELP1	8518	HP:0000522	Alacrima
ORPHA:1764	ELP1	8518	HP:0001510	Growth delay
ORPHA:1764	ELP1	8518	HP:0001251	Ataxia
ORPHA:1764	ELP1	8518	HP:0002650	Scoliosis
ORPHA:1764	ELP1	8518	HP:0001252	Muscular hypotonia
ORPHA:1764	ELP1	8518	HP:0001278	Orthostatic hypotension
ORPHA:1764	ELP1	8518	HP:0000966	Hypohidrosis
ORPHA:1764	ELP1	8518	HP:0000975	Hyperhidrosis
ORPHA:1764	ELP1	8518	HP:0007328	Impaired pain sensation
OMIM:616716	PEX5	5830	HP:0009830	Peripheral neuropathy
OMIM:616716	PEX5	5830	HP:0002099	Asthma
OMIM:616716	PEX5	5830	HP:0000519	Congenital cataract
OMIM:616716	PEX5	5830	HP:0001761	Pes cavus
OMIM:616716	PEX5	5830	HP:0002943	Thoracic scoliosis
OMIM:616716	PEX5	5830	HP:0010544	Vertical nystagmus
OMIM:616716	PEX5	5830	HP:0010864	Intellectual disability, severe
OMIM:616716	PEX5	5830	HP:0001250	Seizures
OMIM:616716	PEX5	5830	HP:0002812	Coxa vara
OMIM:616716	PEX5	5830	HP:0001263	Global developmental delay
OMIM:616716	PEX5	5830	HP:0001265	Hyporeflexia
OMIM:616716	PEX5	5830	HP:0000252	Microcephaly
OMIM:616716	PEX5	5830	HP:0011703	Sinus tachycardia
OMIM:616716	PEX5	5830	HP:0001324	Muscle weakness
OMIM:616716	PEX5	5830	HP:0100864	Short femoral neck
OMIM:616716	PEX5	5830	HP:0003021	Metaphyseal cupping
OMIM:616716	PEX5	5830	HP:0004325	Decreased body weight
OMIM:616716	PEX5	5830	HP:0004322	Short stature
OMIM:616716	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:616716	PEX5	5830	HP:0003025	Metaphyseal irregularity
OMIM:616716	PEX5	5830	HP:0003700	Generalized amyotrophy
OMIM:616716	PEX5	5830	HP:0001762	Talipes equinovarus
OMIM:616716	PEX5	5830	HP:0002136	Broad-based gait
OMIM:611209	COG1	9382	HP:0003160	Abnormal isoelectric focusing of serum transferrin
OMIM:611209	COG1	9382	HP:0000253	Progressive microcephaly
OMIM:611209	COG1	9382	HP:0000368	Low-set, posteriorly rotated ears
OMIM:611209	COG1	9382	HP:0001252	Muscular hypotonia
OMIM:611209	COG1	9382	HP:0003316	Butterfly vertebrae
OMIM:611209	COG1	9382	HP:0008897	Postnatal growth retardation
OMIM:611209	COG1	9382	HP:0001531	Failure to thrive in infancy
OMIM:611209	COG1	9382	HP:0001263	Global developmental delay
OMIM:611209	COG1	9382	HP:0000319	Smooth philtrum
OMIM:611209	COG1	9382	HP:0008905	Rhizomelia
OMIM:611209	COG1	9382	HP:0003422	Vertebral segmentation defect
OMIM:611209	COG1	9382	HP:0000007	Autosomal recessive inheritance
OMIM:611209	COG1	9382	HP:0001762	Talipes equinovarus
OMIM:611209	COG1	9382	HP:0000938	Osteopenia
OMIM:612539	SLC33A1	9197	HP:0001324	Muscle weakness
OMIM:612539	SLC33A1	9197	HP:0003487	Babinski sign
OMIM:612539	SLC33A1	9197	HP:0000006	Autosomal dominant inheritance
OMIM:612539	SLC33A1	9197	HP:0001761	Pes cavus
OMIM:612539	SLC33A1	9197	HP:0003202	Skeletal muscle atrophy
OMIM:612539	SLC33A1	9197	HP:0002064	Spastic gait
OMIM:612539	SLC33A1	9197	HP:0001258	Spastic paraplegia
OMIM:612539	SLC33A1	9197	HP:0002395	Lower limb hyperreflexia
OMIM:615633	WDR34	89891	HP:0006644	Thoracic dysplasia
OMIM:615633	WDR34	89891	HP:0001156	Brachydactyly
OMIM:615633	WDR34	89891	HP:0000888	Horizontal ribs
OMIM:615633	WDR34	89891	HP:0003026	Short long bone
OMIM:615633	WDR34	89891	HP:0002093	Respiratory insufficiency
OMIM:615633	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:615633	WDR34	89891	HP:0000774	Narrow chest
OMIM:615633	WDR34	89891	HP:0002205	Recurrent respiratory infections
OMIM:615633	WDR34	89891	HP:0001591	Bell-shaped thorax
OMIM:276880	UROC1	131669	HP:0004322	Short stature
OMIM:276880	UROC1	131669	HP:0000635	Blue irides
OMIM:276880	UROC1	131669	HP:0012237	Urocanic aciduria
OMIM:276880	UROC1	131669	HP:0000718	Aggressive behavior
OMIM:276880	UROC1	131669	HP:0010864	Intellectual disability, severe
OMIM:276880	UROC1	131669	HP:0001337	Tremor
OMIM:276880	UROC1	131669	HP:0001251	Ataxia
OMIM:276880	UROC1	131669	HP:0002286	Fair hair
OMIM:276880	UROC1	131669	HP:0000007	Autosomal recessive inheritance
OMIM:276880	UROC1	131669	HP:0006887	Intellectual disability, progressive
OMIM:608673	HSPB8	26353	HP:0002460	Distal muscle weakness
OMIM:608673	HSPB8	26353	HP:0001265	Hyporeflexia
OMIM:608673	HSPB8	26353	HP:0007078	Decreased amplitude of sensory action potentials
OMIM:608673	HSPB8	26353	HP:0002650	Scoliosis
OMIM:608673	HSPB8	26353	HP:0003477	Peripheral axonal neuropathy
OMIM:608673	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:608673	HSPB8	26353	HP:0002936	Distal sensory impairment
OMIM:608673	HSPB8	26353	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:608673	HSPB8	26353	HP:0003693	Distal amyotrophy
OMIM:608673	HSPB8	26353	HP:0001425	Heterogeneous
OMIM:608673	HSPB8	26353	HP:0003444	EMG: chronic denervation signs
OMIM:608673	HSPB8	26353	HP:0001761	Pes cavus
OMIM:608673	HSPB8	26353	HP:0001284	Areflexia
OMIM:616592	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:616592	PDGFRB	5159	HP:0000508	Ptosis
OMIM:616592	PDGFRB	5159	HP:0000307	Pointed chin
OMIM:616592	PDGFRB	5159	HP:0001030	Fragile skin
OMIM:616592	PDGFRB	5159	HP:0000963	Thin skin
OMIM:616592	PDGFRB	5159	HP:0002344	Progressive neurologic deterioration
OMIM:616592	PDGFRB	5159	HP:0000716	Depressivity
OMIM:616592	PDGFRB	5159	HP:0000336	Prominent supraorbital ridges
OMIM:616592	PDGFRB	5159	HP:0001548	Overgrowth
OMIM:616592	PDGFRB	5159	HP:0000974	Hyperextensible skin
OMIM:616592	PDGFRB	5159	HP:0000520	Proptosis
OMIM:616592	PDGFRB	5159	HP:0001833	Long foot
OMIM:616592	PDGFRB	5159	HP:0002944	Thoracolumbar scoliosis
OMIM:616592	PDGFRB	5159	HP:0011220	Prominent forehead
OMIM:616592	PDGFRB	5159	HP:0000431	Wide nasal bridge
OMIM:616592	PDGFRB	5159	HP:0000494	Downslanted palpebral fissures
OMIM:616592	PDGFRB	5159	HP:0000219	Thin upper lip vermilion
OMIM:133239	RNF6	6049	HP:0002860	Squamous cell carcinoma
OMIM:133239	RNF6	6049	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DEC1	50514	HP:0002860	Squamous cell carcinoma
OMIM:133239	DEC1	50514	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DLEC1	9940	HP:0002860	Squamous cell carcinoma
OMIM:133239	DLEC1	9940	HP:0000006	Autosomal dominant inheritance
OMIM:133239	TGFBR2	7048	HP:0002860	Squamous cell carcinoma
OMIM:133239	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:133239	LZTS1	11178	HP:0002860	Squamous cell carcinoma
OMIM:133239	LZTS1	11178	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DCC	1630	HP:0002860	Squamous cell carcinoma
OMIM:133239	DCC	1630	HP:0000006	Autosomal dominant inheritance
OMIM:614173	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:118400	SH3BP2	6452	HP:0000006	Autosomal dominant inheritance
OMIM:118400	SH3BP2	6452	HP:0200056	Macular scar
OMIM:118400	SH3BP2	6452	HP:0001138	Optic neuropathy
OMIM:118400	SH3BP2	6452	HP:0001133	Constriction of peripheral visual field
OMIM:118400	SH3BP2	6452	HP:0001065	Striae distensae
OMIM:118400	SH3BP2	6452	HP:0007663	Reduced visual acuity
OMIM:118400	SH3BP2	6452	HP:0011463	Childhood onset
OMIM:118400	SH3BP2	6452	HP:0030802	Lower eyelid retraction
OMIM:118400	SH3BP2	6452	HP:0200057	Marcus Gunn pupil
OMIM:118400	SH3BP2	6452	HP:0000520	Proptosis
OMIM:118400	SH3BP2	6452	HP:0000505	Visual impairment
OMIM:118400	SH3BP2	6452	HP:0000311	Round face
OMIM:118400	SH3BP2	6452	HP:0000677	Oligodontia
OMIM:610168	TGFBR2	7048	HP:0000577	Exotropia
OMIM:610168	TGFBR2	7048	HP:0010648	Dermal translucency
OMIM:610168	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:610168	TGFBR2	7048	HP:0012385	Camptodactyly
OMIM:610168	TGFBR2	7048	HP:0000766	Abnormality of the sternum
OMIM:610168	TGFBR2	7048	HP:0001388	Joint laxity
OMIM:610168	TGFBR2	7048	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	TGFBR2	7048	HP:0002631	Dilatation of ascending aorta
OMIM:610168	TGFBR2	7048	HP:0001156	Brachydactyly
OMIM:610168	TGFBR2	7048	HP:0001425	Heterogeneous
OMIM:610168	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:610168	TGFBR2	7048	HP:0000278	Retrognathia
OMIM:610168	TGFBR2	7048	HP:0002650	Scoliosis
OMIM:610168	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
OMIM:610168	TGFBR2	7048	HP:0000592	Blue sclerae
OMIM:610168	TGFBR2	7048	HP:0000347	Micrognathia
OMIM:610168	TGFBR2	7048	HP:0009473	Joint contracture of the hand
OMIM:610168	TGFBR2	7048	HP:0000272	Malar flattening
OMIM:610168	TGFBR2	7048	HP:0004955	Generalized arterial tortuosity
OMIM:610168	TGFBR2	7048	HP:0000193	Bifid uvula
OMIM:610168	TGFBR2	7048	HP:0000316	Hypertelorism
OMIM:610168	TGFBR2	7048	HP:0004933	Ascending aortic dissection
OMIM:610168	TGFBR2	7048	HP:0000520	Proptosis
OMIM:610168	TGFBR2	7048	HP:0001762	Talipes equinovarus
OMIM:616586	ALDH18A1	5832	HP:0004322	Short stature
OMIM:616586	ALDH18A1	5832	HP:0000016	Urinary retention
OMIM:616586	ALDH18A1	5832	HP:0000007	Autosomal recessive inheritance
OMIM:616586	ALDH18A1	5832	HP:0001258	Spastic paraplegia
OMIM:616586	ALDH18A1	5832	HP:0003202	Skeletal muscle atrophy
OMIM:616586	ALDH18A1	5832	HP:0003487	Babinski sign
OMIM:616586	ALDH18A1	5832	HP:0000252	Microcephaly
OMIM:616586	ALDH18A1	5832	HP:0001249	Intellectual disability
OMIM:616586	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:616586	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:616586	ALDH18A1	5832	HP:0003676	Progressive
OMIM:616586	ALDH18A1	5832	HP:0001288	Gait disturbance
OMIM:616586	ALDH18A1	5832	HP:0001999	Abnormal facial shape
ORPHA:2396	FGFR1	2260	HP:0002120	Cerebral cortical atrophy
ORPHA:2396	FGFR1	2260	HP:0000499	Abnormality of the eyelashes
ORPHA:2396	FGFR1	2260	HP:0012157	Subcortical cerebral atrophy
ORPHA:2396	FGFR1	2260	HP:0001249	Intellectual disability
ORPHA:2396	FGFR1	2260	HP:0002063	Rigidity
ORPHA:2396	FGFR1	2260	HP:0009125	Lipodystrophy
ORPHA:2396	FGFR1	2260	HP:0002119	Ventriculomegaly
ORPHA:2396	FGFR1	2260	HP:0001257	Spasticity
ORPHA:2396	FGFR1	2260	HP:0005306	Capillary hemangiomas
ORPHA:2396	FGFR1	2260	HP:0012062	Bone cyst
ORPHA:2396	FGFR1	2260	HP:0002092	Pulmonary arterial hypertension
ORPHA:2396	FGFR1	2260	HP:0004493	Craniofacial hyperostosis
ORPHA:2396	FGFR1	2260	HP:0001052	Nevus flammeus
ORPHA:2396	FGFR1	2260	HP:0001263	Global developmental delay
ORPHA:2396	FGFR1	2260	HP:0002514	Cerebral calcification
ORPHA:2396	FGFR1	2260	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2396	FGFR1	2260	HP:0010622	Neoplasm of the skeletal system
ORPHA:2396	FGFR1	2260	HP:0010529	Echolalia
ORPHA:2396	FGFR1	2260	HP:0001331	Absent septum pellucidum
ORPHA:2396	FGFR1	2260	HP:0000612	Iris coloboma
ORPHA:2396	FGFR1	2260	HP:0001596	Alopecia
ORPHA:2396	FGFR1	2260	HP:0007957	Corneal opacity
ORPHA:2396	FGFR1	2260	HP:0002357	Dysphasia
ORPHA:2396	FGFR1	2260	HP:0002797	Osteolysis
ORPHA:2396	FGFR1	2260	HP:0000256	Macrocephaly
ORPHA:2396	FGFR1	2260	HP:0000991	Xanthomatosis
ORPHA:2396	FGFR1	2260	HP:0000488	Retinopathy
ORPHA:2396	FGFR1	2260	HP:0001704	Tricuspid valve prolapse
ORPHA:2396	FGFR1	2260	HP:0002381	Aphasia
ORPHA:2396	FGFR1	2260	HP:0003552	Muscle stiffness
ORPHA:2396	FGFR1	2260	HP:0001250	Seizures
ORPHA:2396	FGFR1	2260	HP:0001012	Multiple lipomas
ORPHA:2396	FGFR1	2260	HP:0001482	Subcutaneous nodule
ORPHA:2396	FGFR1	2260	HP:0100761	Visceral angiomatosis
ORPHA:2396	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
ORPHA:2396	FGFR1	2260	HP:0002300	Mutism
ORPHA:2396	KRAS	3845	HP:0002120	Cerebral cortical atrophy
ORPHA:2396	KRAS	3845	HP:0000499	Abnormality of the eyelashes
ORPHA:2396	KRAS	3845	HP:0012157	Subcortical cerebral atrophy
ORPHA:2396	KRAS	3845	HP:0001249	Intellectual disability
ORPHA:2396	KRAS	3845	HP:0002063	Rigidity
ORPHA:2396	KRAS	3845	HP:0009125	Lipodystrophy
ORPHA:2396	KRAS	3845	HP:0002119	Ventriculomegaly
ORPHA:2396	KRAS	3845	HP:0001257	Spasticity
ORPHA:2396	KRAS	3845	HP:0005306	Capillary hemangiomas
ORPHA:2396	KRAS	3845	HP:0012062	Bone cyst
ORPHA:2396	KRAS	3845	HP:0002092	Pulmonary arterial hypertension
ORPHA:2396	KRAS	3845	HP:0004493	Craniofacial hyperostosis
ORPHA:2396	KRAS	3845	HP:0001052	Nevus flammeus
ORPHA:2396	KRAS	3845	HP:0001263	Global developmental delay
ORPHA:2396	KRAS	3845	HP:0002514	Cerebral calcification
ORPHA:2396	KRAS	3845	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2396	KRAS	3845	HP:0010622	Neoplasm of the skeletal system
ORPHA:2396	KRAS	3845	HP:0010529	Echolalia
ORPHA:2396	KRAS	3845	HP:0001331	Absent septum pellucidum
ORPHA:2396	KRAS	3845	HP:0000612	Iris coloboma
ORPHA:2396	KRAS	3845	HP:0001596	Alopecia
ORPHA:2396	KRAS	3845	HP:0007957	Corneal opacity
ORPHA:2396	KRAS	3845	HP:0002357	Dysphasia
ORPHA:2396	KRAS	3845	HP:0002797	Osteolysis
ORPHA:2396	KRAS	3845	HP:0000256	Macrocephaly
ORPHA:2396	KRAS	3845	HP:0000991	Xanthomatosis
ORPHA:2396	KRAS	3845	HP:0000488	Retinopathy
ORPHA:2396	KRAS	3845	HP:0001704	Tricuspid valve prolapse
ORPHA:2396	KRAS	3845	HP:0002381	Aphasia
ORPHA:2396	KRAS	3845	HP:0003552	Muscle stiffness
ORPHA:2396	KRAS	3845	HP:0001250	Seizures
ORPHA:2396	KRAS	3845	HP:0001012	Multiple lipomas
ORPHA:2396	KRAS	3845	HP:0001482	Subcutaneous nodule
ORPHA:2396	KRAS	3845	HP:0100761	Visceral angiomatosis
ORPHA:2396	KRAS	3845	HP:0001274	Agenesis of corpus callosum
ORPHA:2396	KRAS	3845	HP:0002300	Mutism
ORPHA:1832	FAM20C	56975	HP:0009939	Mandibular aplasia
ORPHA:1832	FAM20C	56975	HP:0000347	Micrognathia
ORPHA:1832	FAM20C	56975	HP:0000239	Large fontanelles
ORPHA:1832	FAM20C	56975	HP:0000358	Posteriorly rotated ears
ORPHA:1832	FAM20C	56975	HP:0000212	Gingival overgrowth
ORPHA:1832	FAM20C	56975	HP:0008501	Median cleft lip and palate
ORPHA:1832	FAM20C	56975	HP:0000470	Short neck
ORPHA:1832	FAM20C	56975	HP:0000278	Retrognathia
ORPHA:1832	FAM20C	56975	HP:0000169	Gingival fibromatosis
ORPHA:1832	FAM20C	56975	HP:0000252	Microcephaly
ORPHA:1832	FAM20C	56975	HP:0000520	Proptosis
ORPHA:1832	FAM20C	56975	HP:0001511	Intrauterine growth retardation
ORPHA:1832	FAM20C	56975	HP:0000463	Anteverted nares
ORPHA:1832	FAM20C	56975	HP:0000270	Delayed cranial suture closure
ORPHA:1832	FAM20C	56975	HP:0000369	Low-set ears
ORPHA:1832	FAM20C	56975	HP:0002098	Respiratory distress
ORPHA:1832	FAM20C	56975	HP:0003196	Short nose
ORPHA:1832	FAM20C	56975	HP:0000457	Depressed nasal ridge
ORPHA:1832	FAM20C	56975	HP:0002878	Respiratory failure
OMIM:133200	GJB3	2707	HP:0003593	Infantile onset
OMIM:133200	GJB3	2707	HP:0025092	Epidermal acanthosis
OMIM:133200	GJB3	2707	HP:0010783	Erythema
OMIM:133200	GJB3	2707	HP:0005595	Generalized hyperkeratosis
OMIM:133200	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJB3	2707	HP:0025114	Hypergranulosis
OMIM:133200	GJB3	2707	HP:0005588	Patchy palmoplantar keratoderma
OMIM:133200	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:133200	GJA1	2697	HP:0003593	Infantile onset
OMIM:133200	GJA1	2697	HP:0025092	Epidermal acanthosis
OMIM:133200	GJA1	2697	HP:0010783	Erythema
OMIM:133200	GJA1	2697	HP:0005595	Generalized hyperkeratosis
OMIM:133200	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJA1	2697	HP:0025114	Hypergranulosis
OMIM:133200	GJA1	2697	HP:0005588	Patchy palmoplantar keratoderma
OMIM:133200	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:133200	GJB4	127534	HP:0003593	Infantile onset
OMIM:133200	GJB4	127534	HP:0025092	Epidermal acanthosis
OMIM:133200	GJB4	127534	HP:0010783	Erythema
OMIM:133200	GJB4	127534	HP:0005595	Generalized hyperkeratosis
OMIM:133200	GJB4	127534	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJB4	127534	HP:0025114	Hypergranulosis
OMIM:133200	GJB4	127534	HP:0005588	Patchy palmoplantar keratoderma
OMIM:133200	GJB4	127534	HP:0000006	Autosomal dominant inheritance
OMIM:600630	ERCC6	2074	HP:0001009	Telangiectasia
OMIM:600630	ERCC6	2074	HP:0003593	Infantile onset
OMIM:600630	ERCC6	2074	HP:0000958	Dry skin
OMIM:600630	ERCC6	2074	HP:0001425	Heterogeneous
OMIM:600630	ERCC6	2074	HP:0002664	Neoplasm
OMIM:600630	ERCC6	2074	HP:0003224	Increased cellular sensitivity to UV light
OMIM:600630	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:600630	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:600630	ERCC6	2074	HP:0001480	Freckling
OMIM:600630	ERCC6	2074	HP:0007623	Pigmentation anomalies of sun-exposed skin
OMIM:615381	POLD1	5424	HP:0002808	Kyphosis
OMIM:615381	POLD1	5424	HP:0000407	Sensorineural hearing impairment
OMIM:615381	POLD1	5424	HP:0000520	Proptosis
OMIM:615381	POLD1	5424	HP:0000160	Narrow mouth
OMIM:615381	POLD1	5424	HP:0001620	High pitched voice
OMIM:615381	POLD1	5424	HP:0000444	Convex nasal ridge
OMIM:615381	POLD1	5424	HP:0000855	Insulin resistance
OMIM:615381	POLD1	5424	HP:0000006	Autosomal dominant inheritance
OMIM:615381	POLD1	5424	HP:0002650	Scoliosis
OMIM:615381	POLD1	5424	HP:0000819	Diabetes mellitus
OMIM:615381	POLD1	5424	HP:0004334	Dermal atrophy
OMIM:615381	POLD1	5424	HP:0000347	Micrognathia
OMIM:615381	POLD1	5424	HP:0002240	Hepatomegaly
OMIM:615381	POLD1	5424	HP:0000939	Osteoporosis
OMIM:615381	POLD1	5424	HP:0100679	Lack of skin elasticity
OMIM:615381	POLD1	5424	HP:0000135	Hypogonadism
OMIM:615381	POLD1	5424	HP:0001371	Flexion contracture
OMIM:615381	POLD1	5424	HP:0001009	Telangiectasia
OMIM:615381	POLD1	5424	HP:0002155	Hypertriglyceridemia
OMIM:615381	POLD1	5424	HP:0000028	Cryptorchidism
OMIM:615381	POLD1	5424	HP:0000678	Dental crowding
OMIM:615381	POLD1	5424	HP:0009125	Lipodystrophy
OMIM:615381	POLD1	5424	HP:0001397	Hepatic steatosis
OMIM:615381	POLD1	5424	HP:0002910	Elevated hepatic transaminases
OMIM:302905	TBX22	50945	HP:0000047	Hypospadias
OMIM:302905	TBX22	50945	HP:0000175	Cleft palate
OMIM:302905	TBX22	50945	HP:0000400	Macrotia
OMIM:302905	TBX22	50945	HP:0004322	Short stature
OMIM:302905	TBX22	50945	HP:0000411	Protruding ear
OMIM:302905	TBX22	50945	HP:0000589	Coloboma
OMIM:302905	TBX22	50945	HP:0002974	Radioulnar synostosis
OMIM:302905	TBX22	50945	HP:0000365	Hearing impairment
OMIM:302905	TBX22	50945	HP:0001417	X-linked inheritance
OMIM:201400	TBX19	9095	HP:0000835	Adrenal hypoplasia
OMIM:201400	TBX19	9095	HP:0011748	Adrenocorticotropic hormone deficiency
OMIM:201400	TBX19	9095	HP:0003162	Fasting hypoglycemia
OMIM:201400	TBX19	9095	HP:0008163	Decreased circulating cortisol level
OMIM:201400	TBX19	9095	HP:0000007	Autosomal recessive inheritance
OMIM:235550	SP110	3431	HP:0000252	Microcephaly
OMIM:235550	SP110	3431	HP:0000007	Autosomal recessive inheritance
OMIM:235550	SP110	3431	HP:0001392	Abnormality of the liver
OMIM:235550	SP110	3431	HP:0004315	IgG deficiency
OMIM:235550	SP110	3431	HP:0002849	Absence of lymph node germinal center
OMIM:235550	SP110	3431	HP:0006685	Endocardial fibrosis
OMIM:235550	SP110	3431	HP:0002721	Immunodeficiency
OMIM:243150	TTC7A	57217	HP:0001438	Abnormality of abdomen morphology
OMIM:243150	TTC7A	57217	HP:0001511	Intrauterine growth retardation
OMIM:243150	TTC7A	57217	HP:0002573	Hematochezia
OMIM:243150	TTC7A	57217	HP:0011100	Intestinal atresia
OMIM:243150	TTC7A	57217	HP:0000007	Autosomal recessive inheritance
OMIM:243150	TTC7A	57217	HP:0001561	Polyhydramnios
OMIM:243150	TTC7A	57217	HP:0000924	Abnormality of the skeletal system
ORPHA:2636	RNU4ATAC	100151683	HP:0000347	Micrognathia
ORPHA:2636	RNU4ATAC	100151683	HP:0000944	Abnormality of the metaphysis
ORPHA:2636	RNU4ATAC	100151683	HP:0001163	Abnormality of the metacarpal bones
ORPHA:2636	RNU4ATAC	100151683	HP:0002983	Micromelia
ORPHA:2636	RNU4ATAC	100151683	HP:0000272	Malar flattening
ORPHA:2636	RNU4ATAC	100151683	HP:0000474	Thickened nuchal skin fold
ORPHA:2636	RNU4ATAC	100151683	HP:0001176	Large hands
ORPHA:2636	RNU4ATAC	100151683	HP:0001249	Intellectual disability
ORPHA:2636	RNU4ATAC	100151683	HP:0000176	Submucous cleft hard palate
ORPHA:2636	RNU4ATAC	100151683	HP:0001622	Premature birth
ORPHA:2636	RNU4ATAC	100151683	HP:0000028	Cryptorchidism
ORPHA:2636	RNU4ATAC	100151683	HP:0000072	Hydroureter
ORPHA:2636	RNU4ATAC	100151683	HP:0003552	Muscle stiffness
ORPHA:2636	RNU4ATAC	100151683	HP:0005613	Aplasia/hypoplasia of the femur
ORPHA:2636	RNU4ATAC	100151683	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2636	RNU4ATAC	100151683	HP:0002748	Rickets
ORPHA:2636	RNU4ATAC	100151683	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:2636	RNU4ATAC	100151683	HP:0000369	Low-set ears
ORPHA:2636	RNU4ATAC	100151683	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2636	RNU4ATAC	100151683	HP:0000414	Bulbous nose
ORPHA:2636	RNU4ATAC	100151683	HP:0001596	Alopecia
ORPHA:2636	RNU4ATAC	100151683	HP:0003189	Long nose
ORPHA:2636	RNU4ATAC	100151683	HP:0000269	Prominent occiput
ORPHA:2636	RNU4ATAC	100151683	HP:0000501	Glaucoma
ORPHA:2636	RNU4ATAC	100151683	HP:0000938	Osteopenia
ORPHA:2636	RNU4ATAC	100151683	HP:0002133	Status epilepticus
ORPHA:2636	RNU4ATAC	100151683	HP:0045074	Thin eyebrow
ORPHA:2636	RNU4ATAC	100151683	HP:0011457	Loss of eyelashes
ORPHA:2636	RNU4ATAC	100151683	HP:0000939	Osteoporosis
ORPHA:2636	RNU4ATAC	100151683	HP:0008818	Large iliac wings
ORPHA:2636	RNU4ATAC	100151683	HP:0000494	Downslanted palpebral fissures
ORPHA:2636	RNU4ATAC	100151683	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2636	RNU4ATAC	100151683	HP:0009912	Abnormality of the tragus
ORPHA:2636	RNU4ATAC	100151683	HP:0001328	Specific learning disability
ORPHA:2636	RNU4ATAC	100151683	HP:0002878	Respiratory failure
ORPHA:2636	RNU4ATAC	100151683	HP:0000126	Hydronephrosis
ORPHA:2636	RNU4ATAC	100151683	HP:0000448	Prominent nose
ORPHA:2636	RNU4ATAC	100151683	HP:0002121	Absence seizures
ORPHA:2636	RNU4ATAC	100151683	HP:0002749	Osteomalacia
ORPHA:2636	RNU4ATAC	100151683	HP:0006660	Aplastic clavicles
ORPHA:2636	RNU4ATAC	100151683	HP:0100569	Abnormal vertebral ossification
ORPHA:2636	RNU4ATAC	100151683	HP:0009836	Broad distal phalanx of finger
ORPHA:2636	RNU4ATAC	100151683	HP:0007598	Bilateral single transverse palmar creases
ORPHA:2636	RNU4ATAC	100151683	HP:0000252	Microcephaly
ORPHA:2636	RNU4ATAC	100151683	HP:0001257	Spasticity
ORPHA:2636	RNU4ATAC	100151683	HP:0000268	Dolichocephaly
ORPHA:2636	RNU4ATAC	100151683	HP:0000340	Sloping forehead
ORPHA:2636	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
ORPHA:2636	RNU4ATAC	100151683	HP:0002094	Dyspnea
ORPHA:2636	RNU4ATAC	100151683	HP:0000470	Short neck
ORPHA:2636	RNU4ATAC	100151683	HP:0002063	Rigidity
ORPHA:2636	RNU4ATAC	100151683	HP:0003510	Severe short stature
ORPHA:2636	RNU4ATAC	100151683	HP:0004279	Short palm
ORPHA:2636	RNU4ATAC	100151683	HP:0002750	Delayed skeletal maturation
ORPHA:2636	RNU4ATAC	100151683	HP:0000358	Posteriorly rotated ears
ORPHA:2636	RNU4ATAC	100151683	HP:0011097	Epileptic spasms
ORPHA:2636	RNU4ATAC	100151683	HP:0001006	Hypotrichosis
ORPHA:2636	RNU4ATAC	100151683	HP:0001263	Global developmental delay
ORPHA:2636	RNU4ATAC	100151683	HP:0012471	Thick vermilion border
ORPHA:2636	RNU4ATAC	100151683	HP:0010443	Bifid femur
ORPHA:2636	RNU4ATAC	100151683	HP:0000278	Retrognathia
ORPHA:2636	RNU4ATAC	100151683	HP:0001156	Brachydactyly
ORPHA:2636	RNU4ATAC	100151683	HP:0000193	Bifid uvula
ORPHA:2636	RNU4ATAC	100151683	HP:0003172	Abnormality of the pubic bone
ORPHA:2636	RNU4ATAC	100151683	HP:0000520	Proptosis
OMIM:149730	FGFR3	2261	HP:0000410	Mixed hearing impairment
OMIM:149730	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:149730	FGFR3	2261	HP:0010055	Broad hallux
OMIM:149730	FGFR3	2261	HP:0009741	Nephrosclerosis
OMIM:149730	FGFR3	2261	HP:0001092	Absent lacrimal punctum
OMIM:149730	FGFR3	2261	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGFR3	2261	HP:0007892	Hypoplasia of the lacrimal puncta
OMIM:149730	FGFR3	2261	HP:0011065	Conical incisor
OMIM:149730	FGFR3	2261	HP:0000668	Hypodontia
OMIM:149730	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGFR3	2261	HP:0000670	Carious teeth
OMIM:149730	FGFR3	2261	HP:0000579	Nasolacrimal duct obstruction
OMIM:149730	FGFR3	2261	HP:0000495	Recurrent corneal erosions
OMIM:149730	FGFR3	2261	HP:0000198	Absence of Stensen duct
OMIM:149730	FGFR3	2261	HP:0000629	Periorbital fullness
OMIM:149730	FGFR3	2261	HP:0007900	Hypoplastic lacrimal duct
OMIM:149730	FGFR3	2261	HP:0009637	Absent proximal phalanx of thumb
OMIM:149730	FGFR3	2261	HP:0000620	Dacryocystitis
OMIM:149730	FGFR3	2261	HP:0003974	Absent radius
OMIM:149730	FGFR3	2261	HP:0007732	Lacrimal gland hypoplasia
OMIM:149730	FGFR3	2261	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGFR3	2261	HP:0000974	Hyperextensible skin
OMIM:149730	FGFR3	2261	HP:0007656	Lacrimal gland aplasia
OMIM:149730	FGFR3	2261	HP:0009944	Partial duplication of thumb phalanx
OMIM:149730	FGFR3	2261	HP:0000337	Broad forehead
OMIM:149730	FGFR3	2261	HP:0000506	Telecanthus
OMIM:149730	FGFR3	2261	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGFR3	2261	HP:0100583	Corneal perforation
OMIM:149730	FGFR3	2261	HP:0001245	Small thenar eminence
OMIM:149730	FGFR3	2261	HP:0000680	Delayed eruption of primary teeth
OMIM:149730	FGFR3	2261	HP:0100258	Preaxial polydactyly
OMIM:149730	FGFR3	2261	HP:0008743	Coronal hypospadias
OMIM:149730	FGFR3	2261	HP:0005707	Bilateral triphalangeal thumbs
OMIM:149730	FGFR3	2261	HP:0009462	Radial deviation of the 3rd finger
OMIM:149730	FGFR3	2261	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGFR3	2261	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGFR3	2261	HP:0000378	Cupped ear
OMIM:149730	FGFR3	2261	HP:0000522	Alacrima
OMIM:149730	FGFR3	2261	HP:0000104	Renal agenesis
OMIM:149730	FGFR3	2261	HP:0009740	Aplasia of the parotid gland
OMIM:149730	FGFR3	2261	HP:0001233	2-3 finger syndactyly
OMIM:149730	FGFR3	2261	HP:0000217	Xerostomia
OMIM:149730	FGFR2	2263	HP:0000410	Mixed hearing impairment
OMIM:149730	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:149730	FGFR2	2263	HP:0010055	Broad hallux
OMIM:149730	FGFR2	2263	HP:0009741	Nephrosclerosis
OMIM:149730	FGFR2	2263	HP:0001092	Absent lacrimal punctum
OMIM:149730	FGFR2	2263	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGFR2	2263	HP:0007892	Hypoplasia of the lacrimal puncta
OMIM:149730	FGFR2	2263	HP:0011065	Conical incisor
OMIM:149730	FGFR2	2263	HP:0000668	Hypodontia
OMIM:149730	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGFR2	2263	HP:0000670	Carious teeth
OMIM:149730	FGFR2	2263	HP:0000579	Nasolacrimal duct obstruction
OMIM:149730	FGFR2	2263	HP:0000495	Recurrent corneal erosions
OMIM:149730	FGFR2	2263	HP:0000198	Absence of Stensen duct
OMIM:149730	FGFR2	2263	HP:0000629	Periorbital fullness
OMIM:149730	FGFR2	2263	HP:0007900	Hypoplastic lacrimal duct
OMIM:149730	FGFR2	2263	HP:0009637	Absent proximal phalanx of thumb
OMIM:149730	FGFR2	2263	HP:0000620	Dacryocystitis
OMIM:149730	FGFR2	2263	HP:0003974	Absent radius
OMIM:149730	FGFR2	2263	HP:0007732	Lacrimal gland hypoplasia
OMIM:149730	FGFR2	2263	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGFR2	2263	HP:0000974	Hyperextensible skin
OMIM:149730	FGFR2	2263	HP:0007656	Lacrimal gland aplasia
OMIM:149730	FGFR2	2263	HP:0009944	Partial duplication of thumb phalanx
OMIM:149730	FGFR2	2263	HP:0000337	Broad forehead
OMIM:149730	FGFR2	2263	HP:0000506	Telecanthus
OMIM:149730	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGFR2	2263	HP:0100583	Corneal perforation
OMIM:149730	FGFR2	2263	HP:0001245	Small thenar eminence
OMIM:149730	FGFR2	2263	HP:0000680	Delayed eruption of primary teeth
OMIM:149730	FGFR2	2263	HP:0100258	Preaxial polydactyly
OMIM:149730	FGFR2	2263	HP:0008743	Coronal hypospadias
OMIM:149730	FGFR2	2263	HP:0005707	Bilateral triphalangeal thumbs
OMIM:149730	FGFR2	2263	HP:0009462	Radial deviation of the 3rd finger
OMIM:149730	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGFR2	2263	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGFR2	2263	HP:0000378	Cupped ear
OMIM:149730	FGFR2	2263	HP:0000522	Alacrima
OMIM:149730	FGFR2	2263	HP:0000104	Renal agenesis
OMIM:149730	FGFR2	2263	HP:0009740	Aplasia of the parotid gland
OMIM:149730	FGFR2	2263	HP:0001233	2-3 finger syndactyly
OMIM:149730	FGFR2	2263	HP:0000217	Xerostomia
OMIM:149730	FGF10	2255	HP:0000410	Mixed hearing impairment
OMIM:149730	FGF10	2255	HP:0000316	Hypertelorism
OMIM:149730	FGF10	2255	HP:0010055	Broad hallux
OMIM:149730	FGF10	2255	HP:0009741	Nephrosclerosis
OMIM:149730	FGF10	2255	HP:0001092	Absent lacrimal punctum
OMIM:149730	FGF10	2255	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGF10	2255	HP:0007892	Hypoplasia of the lacrimal puncta
OMIM:149730	FGF10	2255	HP:0011065	Conical incisor
OMIM:149730	FGF10	2255	HP:0000668	Hypodontia
OMIM:149730	FGF10	2255	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGF10	2255	HP:0000670	Carious teeth
OMIM:149730	FGF10	2255	HP:0000579	Nasolacrimal duct obstruction
OMIM:149730	FGF10	2255	HP:0000495	Recurrent corneal erosions
OMIM:149730	FGF10	2255	HP:0000198	Absence of Stensen duct
OMIM:149730	FGF10	2255	HP:0000629	Periorbital fullness
OMIM:149730	FGF10	2255	HP:0007900	Hypoplastic lacrimal duct
OMIM:149730	FGF10	2255	HP:0009637	Absent proximal phalanx of thumb
OMIM:149730	FGF10	2255	HP:0000620	Dacryocystitis
OMIM:149730	FGF10	2255	HP:0003974	Absent radius
OMIM:149730	FGF10	2255	HP:0007732	Lacrimal gland hypoplasia
OMIM:149730	FGF10	2255	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGF10	2255	HP:0000974	Hyperextensible skin
OMIM:149730	FGF10	2255	HP:0007656	Lacrimal gland aplasia
OMIM:149730	FGF10	2255	HP:0009944	Partial duplication of thumb phalanx
OMIM:149730	FGF10	2255	HP:0000337	Broad forehead
OMIM:149730	FGF10	2255	HP:0000506	Telecanthus
OMIM:149730	FGF10	2255	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGF10	2255	HP:0100583	Corneal perforation
OMIM:149730	FGF10	2255	HP:0001245	Small thenar eminence
OMIM:149730	FGF10	2255	HP:0000680	Delayed eruption of primary teeth
OMIM:149730	FGF10	2255	HP:0100258	Preaxial polydactyly
OMIM:149730	FGF10	2255	HP:0008743	Coronal hypospadias
OMIM:149730	FGF10	2255	HP:0005707	Bilateral triphalangeal thumbs
OMIM:149730	FGF10	2255	HP:0009462	Radial deviation of the 3rd finger
OMIM:149730	FGF10	2255	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGF10	2255	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGF10	2255	HP:0000378	Cupped ear
OMIM:149730	FGF10	2255	HP:0000522	Alacrima
OMIM:149730	FGF10	2255	HP:0000104	Renal agenesis
OMIM:149730	FGF10	2255	HP:0009740	Aplasia of the parotid gland
OMIM:149730	FGF10	2255	HP:0001233	2-3 finger syndactyly
OMIM:149730	FGF10	2255	HP:0000217	Xerostomia
OMIM:617062	CSNK2A1	1457	HP:0030084	Clinodactyly
OMIM:617062	CSNK2A1	1457	HP:0000369	Low-set ears
OMIM:617062	CSNK2A1	1457	HP:0011968	Feeding difficulties
OMIM:617062	CSNK2A1	1457	HP:0000431	Wide nasal bridge
OMIM:617062	CSNK2A1	1457	HP:0004315	IgG deficiency
OMIM:617062	CSNK2A1	1457	HP:0001156	Brachydactyly
OMIM:617062	CSNK2A1	1457	HP:0001290	Generalized hypotonia
OMIM:617062	CSNK2A1	1457	HP:0000316	Hypertelorism
OMIM:617062	CSNK2A1	1457	HP:0000286	Epicanthus
OMIM:617062	CSNK2A1	1457	HP:0002019	Constipation
OMIM:617062	CSNK2A1	1457	HP:0002720	IgA deficiency
OMIM:617062	CSNK2A1	1457	HP:0009879	Cortical gyral simplification
OMIM:617062	CSNK2A1	1457	HP:0000347	Micrognathia
OMIM:617062	CSNK2A1	1457	HP:0001263	Global developmental delay
OMIM:617062	CSNK2A1	1457	HP:0000463	Anteverted nares
OMIM:617062	CSNK2A1	1457	HP:0002553	Highly arched eyebrow
OMIM:617062	CSNK2A1	1457	HP:0000664	Synophrys
OMIM:617062	CSNK2A1	1457	HP:0000218	High palate
OMIM:617062	CSNK2A1	1457	HP:0001249	Intellectual disability
OMIM:617062	CSNK2A1	1457	HP:0007018	Attention deficit hyperactivity disorder
OMIM:617062	CSNK2A1	1457	HP:0000252	Microcephaly
OMIM:617062	CSNK2A1	1457	HP:0003812	Phenotypic variability
OMIM:617062	CSNK2A1	1457	HP:0000508	Ptosis
OMIM:617062	CSNK2A1	1457	HP:0000006	Autosomal dominant inheritance
OMIM:617062	CSNK2A1	1457	HP:0000219	Thin upper lip vermilion
OMIM:617062	CSNK2A1	1457	HP:0000750	Delayed speech and language development
OMIM:180500	PITX2	5308	HP:0000336	Prominent supraorbital ridges
OMIM:180500	PITX2	5308	HP:0007873	Abnormally prominent line of Schwalbe
OMIM:180500	PITX2	5308	HP:0001425	Heterogeneous
OMIM:180500	PITX2	5308	HP:0003828	Variable expressivity
OMIM:180500	PITX2	5308	HP:0004298	Abnormality of the abdominal wall
OMIM:180500	PITX2	5308	HP:0000322	Short philtrum
OMIM:180500	PITX2	5308	HP:0002023	Anal atresia
OMIM:180500	PITX2	5308	HP:0007676	Hypoplasia of the iris
OMIM:180500	PITX2	5308	HP:0000219	Thin upper lip vermilion
OMIM:180500	PITX2	5308	HP:0002025	Anal stenosis
OMIM:180500	PITX2	5308	HP:0000431	Wide nasal bridge
OMIM:180500	PITX2	5308	HP:0000501	Glaucoma
OMIM:180500	PITX2	5308	HP:0000526	Aniridia
OMIM:180500	PITX2	5308	HP:0000558	Rieger anomaly
OMIM:180500	PITX2	5308	HP:0011500	Polycoria
OMIM:180500	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:180500	PITX2	5308	HP:0000482	Microcornea
OMIM:180500	PITX2	5308	HP:0000047	Hypospadias
OMIM:180500	PITX2	5308	HP:0000485	Megalocornea
OMIM:180500	PITX2	5308	HP:0000627	Posterior embryotoxon
OMIM:180500	PITX2	5308	HP:0000486	Strabismus
OMIM:180500	PITX2	5308	HP:0000327	Hypoplasia of the maxilla
OMIM:180500	PITX2	5308	HP:0000668	Hypodontia
OMIM:180500	PITX2	5308	HP:0000824	Growth hormone deficiency
OMIM:615761	SETD5	55209	HP:0002650	Scoliosis
OMIM:615761	SETD5	55209	HP:0000582	Upslanted palpebral fissure
OMIM:615761	SETD5	55209	HP:0000006	Autosomal dominant inheritance
OMIM:615761	SETD5	55209	HP:0001263	Global developmental delay
OMIM:615761	SETD5	55209	HP:0000678	Dental crowding
OMIM:615761	SETD5	55209	HP:0001249	Intellectual disability
OMIM:615761	SETD5	55209	HP:0000248	Brachycephaly
OMIM:615761	SETD5	55209	HP:0000486	Strabismus
OMIM:615761	SETD5	55209	HP:0000545	Myopia
OMIM:615761	SETD5	55209	HP:0002714	Downturned corners of mouth
OMIM:615761	SETD5	55209	HP:0003307	Hyperlordosis
OMIM:615761	SETD5	55209	HP:0000028	Cryptorchidism
OMIM:615761	SETD5	55209	HP:0002307	Drooling
OMIM:615761	SETD5	55209	HP:0000219	Thin upper lip vermilion
OMIM:615761	SETD5	55209	HP:0000463	Anteverted nares
OMIM:615761	SETD5	55209	HP:0000750	Delayed speech and language development
OMIM:615761	SETD5	55209	HP:0000347	Micrognathia
OMIM:615761	SETD5	55209	HP:0000722	Obsessive-compulsive behavior
OMIM:615761	SETD5	55209	HP:0002808	Kyphosis
OMIM:615761	SETD5	55209	HP:0000483	Astigmatism
OMIM:615761	SETD5	55209	HP:0000047	Hypospadias
OMIM:615761	SETD5	55209	HP:0000664	Synophrys
OMIM:615761	SETD5	55209	HP:0005280	Depressed nasal bridge
OMIM:278760	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
OMIM:278760	ERCC4	2072	HP:0007587	Numerous pigmented freckles
OMIM:278760	ERCC4	2072	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278760	ERCC4	2072	HP:0000252	Microcephaly
OMIM:278760	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:278760	ERCC4	2072	HP:0003812	Phenotypic variability
OMIM:278760	ERCC4	2072	HP:0200034	Papule
OMIM:615530	SYNJ1	8867	HP:0002067	Bradykinesia
OMIM:615530	SYNJ1	8867	HP:0000605	Supranuclear gaze palsy
OMIM:615530	SYNJ1	8867	HP:0000658	Eyelid apraxia
OMIM:615530	SYNJ1	8867	HP:0001332	Dystonia
OMIM:615530	SYNJ1	8867	HP:0001300	Parkinsonism
OMIM:615530	SYNJ1	8867	HP:0002172	Postural instability
OMIM:615530	SYNJ1	8867	HP:0025401	Staring gaze
OMIM:615530	SYNJ1	8867	HP:0000007	Autosomal recessive inheritance
OMIM:615530	SYNJ1	8867	HP:0001337	Tremor
OMIM:615530	SYNJ1	8867	HP:0001260	Dysarthria
OMIM:615530	SYNJ1	8867	HP:0002063	Rigidity
OMIM:615530	SYNJ1	8867	HP:0003676	Progressive
OMIM:615530	SYNJ1	8867	HP:0002362	Shuffling gait
OMIM:615598	SERPINB7	8710	HP:0000007	Autosomal recessive inheritance
OMIM:615598	SERPINB7	8710	HP:0025092	Epidermal acanthosis
OMIM:615598	SERPINB7	8710	HP:0025080	Orthokeratotic hyperkeratosis
OMIM:615598	SERPINB7	8710	HP:0007410	Palmoplantar hyperhidrosis
OMIM:615598	SERPINB7	8710	HP:0025114	Hypergranulosis
OMIM:613092	REN	5972	HP:0000097	Focal segmental glomerulosclerosis
OMIM:613092	REN	5972	HP:0005576	Tubulointerstitial fibrosis
OMIM:613092	REN	5972	HP:0000006	Autosomal dominant inheritance
OMIM:613092	REN	5972	HP:0004719	Hyperechogenic kidneys
OMIM:613092	REN	5972	HP:0001903	Anemia
OMIM:613092	REN	5972	HP:0000089	Renal hypoplasia
OMIM:613092	REN	5972	HP:0000092	Tubular atrophy
OMIM:613092	REN	5972	HP:0002149	Hyperuricemia
OMIM:613092	REN	5972	HP:0012622	Chronic kidney disease
OMIM:603776	PCSK9	255738	HP:0003124	Hypercholesterolemia
OMIM:603776	PCSK9	255738	HP:0000006	Autosomal dominant inheritance
OMIM:256040	PSMB8	5696	HP:0010783	Erythema
OMIM:256040	PSMB8	5696	HP:0000509	Conjunctivitis
OMIM:256040	PSMB8	5696	HP:0100807	Long fingers
OMIM:256040	PSMB8	5696	HP:0002910	Elevated hepatic transaminases
OMIM:256040	PSMB8	5696	HP:0000448	Prominent nose
OMIM:256040	PSMB8	5696	HP:0001640	Cardiomegaly
OMIM:256040	PSMB8	5696	HP:0002829	Arthralgia
OMIM:256040	PSMB8	5696	HP:0000007	Autosomal recessive inheritance
OMIM:256040	PSMB8	5696	HP:0000938	Osteopenia
OMIM:256040	PSMB8	5696	HP:0001090	Large eyes
OMIM:256040	PSMB8	5696	HP:0000158	Macroglossia
OMIM:256040	PSMB8	5696	HP:0003202	Skeletal muscle atrophy
OMIM:256040	PSMB8	5696	HP:0002135	Basal ganglia calcification
OMIM:256040	PSMB8	5696	HP:0001256	Intellectual disability, mild
OMIM:256040	PSMB8	5696	HP:0005830	Flexion contracture of toe
OMIM:256040	PSMB8	5696	HP:0100759	Clubbing of fingers
OMIM:256040	PSMB8	5696	HP:0000179	Thick lower lip vermilion
OMIM:256040	PSMB8	5696	HP:0001324	Muscle weakness
OMIM:256040	PSMB8	5696	HP:0002240	Hepatomegaly
OMIM:256040	PSMB8	5696	HP:0001635	Congestive heart failure
OMIM:256040	PSMB8	5696	HP:0001744	Splenomegaly
OMIM:256040	PSMB8	5696	HP:0001508	Failure to thrive
OMIM:256040	PSMB8	5696	HP:0012490	Panniculitis
OMIM:256040	PSMB8	5696	HP:0100490	Camptodactyly of finger
OMIM:256040	PSMB8	5696	HP:0010702	Increased antibody level in blood
OMIM:256040	PSMB8	5696	HP:0100534	Episcleritis
OMIM:256040	PSMB8	5696	HP:0000953	Hyperpigmentation of the skin
OMIM:256040	PSMB8	5696	HP:0009125	Lipodystrophy
OMIM:256040	PSMB8	5696	HP:0001935	Microcytic anemia
OMIM:256040	PSMB8	5696	HP:0025131	Finger swelling
OMIM:256040	PSMB8	5696	HP:0002653	Bone pain
OMIM:256040	PSMB8	5696	HP:0002987	Elbow flexion contracture
OMIM:256040	PSMB8	5696	HP:0000400	Macrotia
OMIM:256040	PSMB8	5696	HP:0002155	Hypertriglyceridemia
OMIM:256040	PSMB8	5696	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:256040	PSMB8	5696	HP:0008887	Adipose tissue loss
OMIM:130000	COL5A1	1289	HP:0002010	Narrow maxilla
OMIM:130000	COL5A1	1289	HP:0010485	Hyperextensibility at elbow
OMIM:130000	COL5A1	1289	HP:0001537	Umbilical hernia
OMIM:130000	COL5A1	1289	HP:0000545	Myopia
OMIM:130000	COL5A1	1289	HP:0001058	Poor wound healing
OMIM:130000	COL5A1	1289	HP:0001073	Cigarette-paper scars
OMIM:130000	COL5A1	1289	HP:0004322	Short stature
OMIM:130000	COL5A1	1289	HP:0010500	Hyperextensibility of the knee
OMIM:130000	COL5A1	1289	HP:0000977	Soft skin
OMIM:130000	COL5A1	1289	HP:0000394	Lop ear
OMIM:130000	COL5A1	1289	HP:0000993	Molluscoid pseudotumors
OMIM:130000	COL5A1	1289	HP:0001083	Ectopia lentis
OMIM:130000	COL5A1	1289	HP:0002758	Osteoarthritis
OMIM:130000	COL5A1	1289	HP:0000286	Epicanthus
OMIM:130000	COL5A1	1289	HP:0005100	Premature birth following premature rupture of fetal membranes
OMIM:130000	COL5A1	1289	HP:0005222	Bowel diverticulosis
OMIM:130000	COL5A1	1289	HP:0001030	Fragile skin
OMIM:130000	COL5A1	1289	HP:0006316	Irregularly spaced teeth
OMIM:130000	COL5A1	1289	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL5A1	1289	HP:0000978	Bruising susceptibility
OMIM:130000	COL5A1	1289	HP:0001763	Pes planus
OMIM:130000	COL5A1	1289	HP:0001373	Joint dislocation
OMIM:130000	COL5A1	1289	HP:0025014	Subcutaneous spheroids
OMIM:130000	COL5A1	1289	HP:0001634	Mitral valve prolapse
OMIM:130000	COL5A1	1289	HP:0008947	Infantile muscular hypotonia
OMIM:130000	COL5A1	1289	HP:0002616	Aortic root dilatation
OMIM:130000	COL5A1	1289	HP:0001187	Hyperextensibility of the finger joints
OMIM:130000	COL5A1	1289	HP:0000023	Inguinal hernia
OMIM:130000	COL5A1	1289	HP:0000592	Blue sclerae
OMIM:130000	COL5A1	1289	HP:0000974	Hyperextensible skin
OMIM:130000	COL5A2	1290	HP:0002010	Narrow maxilla
OMIM:130000	COL5A2	1290	HP:0010485	Hyperextensibility at elbow
OMIM:130000	COL5A2	1290	HP:0001537	Umbilical hernia
OMIM:130000	COL5A2	1290	HP:0000545	Myopia
OMIM:130000	COL5A2	1290	HP:0001058	Poor wound healing
OMIM:130000	COL5A2	1290	HP:0001073	Cigarette-paper scars
OMIM:130000	COL5A2	1290	HP:0004322	Short stature
OMIM:130000	COL5A2	1290	HP:0010500	Hyperextensibility of the knee
OMIM:130000	COL5A2	1290	HP:0000977	Soft skin
OMIM:130000	COL5A2	1290	HP:0000394	Lop ear
OMIM:130000	COL5A2	1290	HP:0000993	Molluscoid pseudotumors
OMIM:130000	COL5A2	1290	HP:0001083	Ectopia lentis
OMIM:130000	COL5A2	1290	HP:0002758	Osteoarthritis
OMIM:130000	COL5A2	1290	HP:0000286	Epicanthus
OMIM:130000	COL5A2	1290	HP:0005100	Premature birth following premature rupture of fetal membranes
OMIM:130000	COL5A2	1290	HP:0005222	Bowel diverticulosis
OMIM:130000	COL5A2	1290	HP:0001030	Fragile skin
OMIM:130000	COL5A2	1290	HP:0006316	Irregularly spaced teeth
OMIM:130000	COL5A2	1290	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL5A2	1290	HP:0000978	Bruising susceptibility
OMIM:130000	COL5A2	1290	HP:0001763	Pes planus
OMIM:130000	COL5A2	1290	HP:0001373	Joint dislocation
OMIM:130000	COL5A2	1290	HP:0025014	Subcutaneous spheroids
OMIM:130000	COL5A2	1290	HP:0001634	Mitral valve prolapse
OMIM:130000	COL5A2	1290	HP:0008947	Infantile muscular hypotonia
OMIM:130000	COL5A2	1290	HP:0002616	Aortic root dilatation
OMIM:130000	COL5A2	1290	HP:0001187	Hyperextensibility of the finger joints
OMIM:130000	COL5A2	1290	HP:0000023	Inguinal hernia
OMIM:130000	COL5A2	1290	HP:0000592	Blue sclerae
OMIM:130000	COL5A2	1290	HP:0000974	Hyperextensible skin
OMIM:130000	COL1A1	1277	HP:0002010	Narrow maxilla
OMIM:130000	COL1A1	1277	HP:0010485	Hyperextensibility at elbow
OMIM:130000	COL1A1	1277	HP:0001537	Umbilical hernia
OMIM:130000	COL1A1	1277	HP:0000545	Myopia
OMIM:130000	COL1A1	1277	HP:0001058	Poor wound healing
OMIM:130000	COL1A1	1277	HP:0001073	Cigarette-paper scars
OMIM:130000	COL1A1	1277	HP:0004322	Short stature
OMIM:130000	COL1A1	1277	HP:0010500	Hyperextensibility of the knee
OMIM:130000	COL1A1	1277	HP:0000977	Soft skin
OMIM:130000	COL1A1	1277	HP:0000394	Lop ear
OMIM:130000	COL1A1	1277	HP:0000993	Molluscoid pseudotumors
OMIM:130000	COL1A1	1277	HP:0001083	Ectopia lentis
OMIM:130000	COL1A1	1277	HP:0002758	Osteoarthritis
OMIM:130000	COL1A1	1277	HP:0000286	Epicanthus
OMIM:130000	COL1A1	1277	HP:0005100	Premature birth following premature rupture of fetal membranes
OMIM:130000	COL1A1	1277	HP:0005222	Bowel diverticulosis
OMIM:130000	COL1A1	1277	HP:0001030	Fragile skin
OMIM:130000	COL1A1	1277	HP:0006316	Irregularly spaced teeth
OMIM:130000	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:130000	COL1A1	1277	HP:0001763	Pes planus
OMIM:130000	COL1A1	1277	HP:0001373	Joint dislocation
OMIM:130000	COL1A1	1277	HP:0025014	Subcutaneous spheroids
OMIM:130000	COL1A1	1277	HP:0001634	Mitral valve prolapse
OMIM:130000	COL1A1	1277	HP:0008947	Infantile muscular hypotonia
OMIM:130000	COL1A1	1277	HP:0002616	Aortic root dilatation
OMIM:130000	COL1A1	1277	HP:0001187	Hyperextensibility of the finger joints
OMIM:130000	COL1A1	1277	HP:0000023	Inguinal hernia
OMIM:130000	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:130000	COL1A1	1277	HP:0000974	Hyperextensible skin
ORPHA:257	PLEC	5339	HP:0000602	Ophthalmoplegia
ORPHA:257	PLEC	5339	HP:0003198	Myopathy
ORPHA:257	PLEC	5339	HP:0200034	Papule
ORPHA:257	PLEC	5339	HP:0010529	Echolalia
ORPHA:257	PLEC	5339	HP:0002300	Mutism
ORPHA:257	PLEC	5339	HP:0001804	Hypoplastic fingernail
ORPHA:257	PLEC	5339	HP:0200037	Skin vesicle
ORPHA:257	PLEC	5339	HP:0001596	Alopecia
ORPHA:257	PLEC	5339	HP:0010547	Muscle flaccidity
ORPHA:257	PLEC	5339	HP:0000682	Abnormality of dental enamel
ORPHA:257	PLEC	5339	HP:0004334	Dermal atrophy
ORPHA:257	PLEC	5339	HP:0002381	Aphasia
ORPHA:257	PLEC	5339	HP:0012246	Oculomotor nerve palsy
ORPHA:257	PLEC	5339	HP:0002357	Dysphasia
ORPHA:257	PLEC	5339	HP:0000508	Ptosis
ORPHA:257	PLEC	5339	HP:0001812	Hyperconvex fingernails
ORPHA:93260	FGFR2	2263	HP:0002410	Aqueductal stenosis
ORPHA:93260	FGFR2	2263	HP:0003196	Short nose
ORPHA:93260	FGFR2	2263	HP:0000369	Low-set ears
ORPHA:93260	FGFR2	2263	HP:0001773	Short foot
ORPHA:93260	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:93260	FGFR2	2263	HP:0010059	Broad hallux phalanx
ORPHA:93260	FGFR2	2263	HP:0000218	High palate
ORPHA:93260	FGFR2	2263	HP:0000348	High forehead
ORPHA:93260	FGFR2	2263	HP:0011304	Broad thumb
ORPHA:93260	FGFR2	2263	HP:0001249	Intellectual disability
ORPHA:93260	FGFR2	2263	HP:0002098	Respiratory distress
ORPHA:93260	FGFR2	2263	HP:0008080	Hallux varus
ORPHA:93260	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:93260	FGFR2	2263	HP:0000453	Choanal atresia
ORPHA:93260	FGFR2	2263	HP:0001601	Laryngomalacia
ORPHA:93260	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHA:93260	FGFR2	2263	HP:0001376	Limitation of joint mobility
ORPHA:93260	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
ORPHA:93260	FGFR2	2263	HP:0200055	Small hand
ORPHA:93260	FGFR2	2263	HP:0001250	Seizures
ORPHA:93260	FGFR2	2263	HP:0000244	Brachyturricephaly
ORPHA:93260	FGFR2	2263	HP:0002779	Tracheomalacia
ORPHA:93260	FGFR2	2263	HP:0000520	Proptosis
ORPHA:93260	FGFR2	2263	HP:0000402	Stenosis of the external auditory canal
ORPHA:93260	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:93260	FGFR2	2263	HP:0010109	Short hallux
ORPHA:93260	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHA:85410	TYK2	7297	HP:0001386	Joint swelling
ORPHA:85410	TYK2	7297	HP:0002829	Arthralgia
ORPHA:85410	TYK2	7297	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	TYK2	7297	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	TYK2	7297	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	TYK2	7297	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	TYK2	7297	HP:0001094	Iridocyclitis
ORPHA:85410	FAS	355	HP:0001386	Joint swelling
ORPHA:85410	FAS	355	HP:0002829	Arthralgia
ORPHA:85410	FAS	355	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	FAS	355	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	FAS	355	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	FAS	355	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	FAS	355	HP:0001094	Iridocyclitis
ORPHA:85410	IL2RA	3559	HP:0001386	Joint swelling
ORPHA:85410	IL2RA	3559	HP:0002829	Arthralgia
ORPHA:85410	IL2RA	3559	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	IL2RA	3559	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	IL2RA	3559	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	IL2RA	3559	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	IL2RA	3559	HP:0001094	Iridocyclitis
ORPHA:85410	CD247	919	HP:0001386	Joint swelling
ORPHA:85410	CD247	919	HP:0002829	Arthralgia
ORPHA:85410	CD247	919	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	CD247	919	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	CD247	919	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	CD247	919	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	CD247	919	HP:0001094	Iridocyclitis
ORPHA:85410	STAT4	6775	HP:0001386	Joint swelling
ORPHA:85410	STAT4	6775	HP:0002829	Arthralgia
ORPHA:85410	STAT4	6775	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	STAT4	6775	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	STAT4	6775	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	STAT4	6775	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	STAT4	6775	HP:0001094	Iridocyclitis
ORPHA:85410	IL2RB	3560	HP:0001386	Joint swelling
ORPHA:85410	IL2RB	3560	HP:0002829	Arthralgia
ORPHA:85410	IL2RB	3560	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	IL2RB	3560	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	IL2RB	3560	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	IL2RB	3560	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	IL2RB	3560	HP:0001094	Iridocyclitis
ORPHA:85410	PTPN2	5771	HP:0001386	Joint swelling
ORPHA:85410	PTPN2	5771	HP:0002829	Arthralgia
ORPHA:85410	PTPN2	5771	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	PTPN2	5771	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	PTPN2	5771	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	PTPN2	5771	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	PTPN2	5771	HP:0001094	Iridocyclitis
ORPHA:85410	ANKRD55	79722	HP:0001386	Joint swelling
ORPHA:85410	ANKRD55	79722	HP:0002829	Arthralgia
ORPHA:85410	ANKRD55	79722	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	ANKRD55	79722	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	ANKRD55	79722	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	ANKRD55	79722	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	ANKRD55	79722	HP:0001094	Iridocyclitis
ORPHA:85410	PTPN22	26191	HP:0001386	Joint swelling
ORPHA:85410	PTPN22	26191	HP:0002829	Arthralgia
ORPHA:85410	PTPN22	26191	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85410	PTPN22	26191	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85410	PTPN22	26191	HP:0003493	Antinuclear antibody positivity
ORPHA:85410	PTPN22	26191	HP:0011227	Elevated C-reactive protein level
ORPHA:85410	PTPN22	26191	HP:0001094	Iridocyclitis
OMIM:601650	SDHAF2	54949	HP:0006824	Cranial nerve paralysis
OMIM:601650	SDHAF2	54949	HP:0001609	Hoarse voice
OMIM:601650	SDHAF2	54949	HP:0001686	Loss of voice
OMIM:601650	SDHAF2	54949	HP:0008629	Pulsatile tinnitus
OMIM:601650	SDHAF2	54949	HP:0006715	Glomus tympanicum paraganglioma
OMIM:601650	SDHAF2	54949	HP:0030074	Chemodectoma
OMIM:601650	SDHAF2	54949	HP:0003001	Glomus jugular tumor
OMIM:601650	SDHAF2	54949	HP:0001605	Vocal cord paralysis
OMIM:601650	SDHAF2	54949	HP:0003581	Adult onset
OMIM:601650	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:601650	SDHAF2	54949	HP:0002886	Vagal paraganglioma
OMIM:610100	DCAF8	50717	HP:0003693	Distal amyotrophy
OMIM:610100	DCAF8	50717	HP:0003431	Decreased motor nerve conduction velocity
OMIM:610100	DCAF8	50717	HP:0002460	Distal muscle weakness
OMIM:610100	DCAF8	50717	HP:0001765	Hammertoe
OMIM:610100	DCAF8	50717	HP:0003383	Onion bulb formation
OMIM:610100	DCAF8	50717	HP:0001761	Pes cavus
OMIM:610100	DCAF8	50717	HP:0000006	Autosomal dominant inheritance
OMIM:610100	DCAF8	50717	HP:0001284	Areflexia
OMIM:610100	DCAF8	50717	HP:0003477	Peripheral axonal neuropathy
OMIM:610100	DCAF8	50717	HP:0001265	Hyporeflexia
OMIM:610100	DCAF8	50717	HP:0006937	Impaired distal tactile sensation
OMIM:610100	DCAF8	50717	HP:0003376	Steppage gait
OMIM:610100	DCAF8	50717	HP:0001638	Cardiomyopathy
OMIM:610100	DCAF8	50717	HP:0003444	EMG: chronic denervation signs
OMIM:610100	DCAF8	50717	HP:0006886	Impaired distal vibration sensation
ORPHA:261265	HNF1B	6928	HP:0004322	Short stature
ORPHA:261265	HNF1B	6928	HP:0000003	Multicystic kidney dysplasia
ORPHA:261265	HNF1B	6928	HP:0000819	Diabetes mellitus
ORPHA:261265	LHX1	3975	HP:0004322	Short stature
ORPHA:261265	LHX1	3975	HP:0000003	Multicystic kidney dysplasia
ORPHA:261265	LHX1	3975	HP:0000819	Diabetes mellitus
ORPHA:461	STS	412	HP:0008064	Ichthyosis
ORPHA:461	STS	412	HP:0007759	Opacification of the corneal stroma
ORPHA:461	STS	412	HP:0000962	Hyperkeratosis
ORPHA:461	STS	412	HP:0000958	Dry skin
ORPHA:461	STS	412	HP:0000966	Hypohidrosis
ORPHA:461	STS	412	HP:0007018	Attention deficit hyperactivity disorder
OMIM:602849	FGFR3	2261	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:602849	FGFR3	2261	HP:0000272	Malar flattening
OMIM:602849	FGFR3	2261	HP:0004440	Coronal craniosynostosis
OMIM:602849	FGFR3	2261	HP:0030084	Clinodactyly
OMIM:602849	FGFR3	2261	HP:0000218	High palate
OMIM:602849	FGFR3	2261	HP:0005819	Short middle phalanx of finger
OMIM:602849	FGFR3	2261	HP:0000508	Ptosis
OMIM:602849	FGFR3	2261	HP:0001241	Capitate-hamate fusion
OMIM:602849	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:602849	FGFR3	2261	HP:0011800	Midface retrusion
OMIM:602849	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:602849	FGFR3	2261	HP:0006193	Thimble-shaped middle phalanges of hand
OMIM:602849	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:602849	FGFR3	2261	HP:0001156	Brachydactyly
OMIM:602849	FGFR3	2261	HP:0010055	Broad hallux
OMIM:602849	FGFR3	2261	HP:0001357	Plagiocephaly
OMIM:602849	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:602849	FGFR3	2261	HP:0009466	Radial deviation of finger
OMIM:602849	FGFR3	2261	HP:0000494	Downslanted palpebral fissures
OMIM:602849	FGFR3	2261	HP:0003795	Short middle phalanx of toe
OMIM:602849	FGFR3	2261	HP:0000294	Low anterior hairline
OMIM:602849	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:602849	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:602849	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:300943	GPR101	83550	HP:0002893	Pituitary adenoma
OMIM:300943	GPR101	83550	HP:0000845	Growth hormone excess
OMIM:186100	GJA1	2697	HP:0010705	4-5 finger syndactyly
OMIM:186100	GJA1	2697	HP:0009237	Short 5th finger
OMIM:186100	GJA1	2697	HP:0009162	Absent middle phalanx of 5th finger
OMIM:186100	GJA1	2697	HP:0000006	Autosomal dominant inheritance
ORPHA:99803	PHOX2B	8929	HP:0002271	Autonomic dysregulation
ORPHA:99803	PHOX2B	8929	HP:0005957	Breathing dysregulation
ORPHA:99803	PHOX2B	8929	HP:0001252	Muscular hypotonia
ORPHA:99803	PHOX2B	8929	HP:0000486	Strabismus
ORPHA:99803	PHOX2B	8929	HP:0002459	Dysautonomia
ORPHA:99803	PHOX2B	8929	HP:0001250	Seizures
ORPHA:99803	PHOX2B	8929	HP:0001522	Death in infancy
ORPHA:99803	PHOX2B	8929	HP:0001249	Intellectual disability
ORPHA:99803	PHOX2B	8929	HP:0010536	Central sleep apnea
ORPHA:99803	PHOX2B	8929	HP:0001508	Failure to thrive
ORPHA:99803	PHOX2B	8929	HP:0001518	Small for gestational age
ORPHA:99803	PHOX2B	8929	HP:0007110	Central hypoventilation
ORPHA:99803	PHOX2B	8929	HP:0002020	Gastroesophageal reflux
ORPHA:99803	PHOX2B	8929	HP:0002251	Aganglionic megacolon
ORPHA:99803	RET	5979	HP:0002271	Autonomic dysregulation
ORPHA:99803	RET	5979	HP:0005957	Breathing dysregulation
ORPHA:99803	RET	5979	HP:0001252	Muscular hypotonia
ORPHA:99803	RET	5979	HP:0000486	Strabismus
ORPHA:99803	RET	5979	HP:0002459	Dysautonomia
ORPHA:99803	RET	5979	HP:0001250	Seizures
ORPHA:99803	RET	5979	HP:0001522	Death in infancy
ORPHA:99803	RET	5979	HP:0001249	Intellectual disability
ORPHA:99803	RET	5979	HP:0010536	Central sleep apnea
ORPHA:99803	RET	5979	HP:0001508	Failure to thrive
ORPHA:99803	RET	5979	HP:0001518	Small for gestational age
ORPHA:99803	RET	5979	HP:0007110	Central hypoventilation
ORPHA:99803	RET	5979	HP:0002020	Gastroesophageal reflux
ORPHA:99803	RET	5979	HP:0002251	Aganglionic megacolon
ORPHA:99803	ASCL1	429	HP:0002271	Autonomic dysregulation
ORPHA:99803	ASCL1	429	HP:0005957	Breathing dysregulation
ORPHA:99803	ASCL1	429	HP:0001252	Muscular hypotonia
ORPHA:99803	ASCL1	429	HP:0000486	Strabismus
ORPHA:99803	ASCL1	429	HP:0002459	Dysautonomia
ORPHA:99803	ASCL1	429	HP:0001250	Seizures
ORPHA:99803	ASCL1	429	HP:0001522	Death in infancy
ORPHA:99803	ASCL1	429	HP:0001249	Intellectual disability
ORPHA:99803	ASCL1	429	HP:0010536	Central sleep apnea
ORPHA:99803	ASCL1	429	HP:0001508	Failure to thrive
ORPHA:99803	ASCL1	429	HP:0001518	Small for gestational age
ORPHA:99803	ASCL1	429	HP:0007110	Central hypoventilation
ORPHA:99803	ASCL1	429	HP:0002020	Gastroesophageal reflux
ORPHA:99803	ASCL1	429	HP:0002251	Aganglionic megacolon
ORPHA:3450	COL2A1	1280	HP:0003016	Metaphyseal widening
ORPHA:3450	COL2A1	1280	HP:0000162	Glossoptosis
ORPHA:3450	COL2A1	1280	HP:0002194	Delayed gross motor development
ORPHA:3450	COL2A1	1280	HP:0000347	Micrognathia
ORPHA:3450	COL2A1	1280	HP:0008936	Muscular hypotonia of the trunk
ORPHA:3450	COL2A1	1280	HP:0011819	Submucous cleft soft palate
ORPHA:3450	COL2A1	1280	HP:0008587	Mild neurosensory hearing impairment
ORPHA:3450	COL2A1	1280	HP:0000750	Delayed speech and language development
ORPHA:3450	COL2A1	1280	HP:0000405	Conductive hearing impairment
ORPHA:3450	COL2A1	1280	HP:0000316	Hypertelorism
ORPHA:3450	COL2A1	1280	HP:0000520	Proptosis
ORPHA:3450	COL2A1	1280	HP:0008905	Rhizomelia
ORPHA:3450	COL2A1	1280	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:3450	COL2A1	1280	HP:0003097	Short femur
ORPHA:3450	COL2A1	1280	HP:0005280	Depressed nasal bridge
ORPHA:3450	COL2A1	1280	HP:0000545	Myopia
ORPHA:3450	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
ORPHA:3450	COL11A2	1302	HP:0003016	Metaphyseal widening
ORPHA:3450	COL11A2	1302	HP:0000162	Glossoptosis
ORPHA:3450	COL11A2	1302	HP:0002194	Delayed gross motor development
ORPHA:3450	COL11A2	1302	HP:0000347	Micrognathia
ORPHA:3450	COL11A2	1302	HP:0008936	Muscular hypotonia of the trunk
ORPHA:3450	COL11A2	1302	HP:0011819	Submucous cleft soft palate
ORPHA:3450	COL11A2	1302	HP:0008587	Mild neurosensory hearing impairment
ORPHA:3450	COL11A2	1302	HP:0000750	Delayed speech and language development
ORPHA:3450	COL11A2	1302	HP:0000405	Conductive hearing impairment
ORPHA:3450	COL11A2	1302	HP:0000316	Hypertelorism
ORPHA:3450	COL11A2	1302	HP:0000520	Proptosis
ORPHA:3450	COL11A2	1302	HP:0008905	Rhizomelia
ORPHA:3450	COL11A2	1302	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:3450	COL11A2	1302	HP:0003097	Short femur
ORPHA:3450	COL11A2	1302	HP:0005280	Depressed nasal bridge
ORPHA:3450	COL11A2	1302	HP:0000545	Myopia
ORPHA:3450	COL11A2	1302	HP:0003417	Coronal cleft vertebrae
ORPHA:111	TAZ	6901	HP:0001874	Abnormality of neutrophils
ORPHA:111	TAZ	6901	HP:0001706	Endocardial fibroelastosis
ORPHA:111	TAZ	6901	HP:0001644	Dilated cardiomyopathy
ORPHA:111	TAZ	6901	HP:0008322	Abnormal mitochondrial morphology
ORPHA:67047	C19ORF70	125988	HP:0001260	Dysarthria
ORPHA:67047	C19ORF70	125988	HP:0001251	Ataxia
ORPHA:67047	C19ORF70	125988	HP:0001249	Intellectual disability
ORPHA:67047	C19ORF70	125988	HP:0003535	3-Methylglutaconic aciduria
ORPHA:67047	C19ORF70	125988	HP:0000505	Visual impairment
ORPHA:67047	C19ORF70	125988	HP:0002313	Spastic paraparesis
ORPHA:67047	C19ORF70	125988	HP:0000639	Nystagmus
ORPHA:67047	C19ORF70	125988	HP:0001266	Choreoathetosis
ORPHA:67047	OPA3	80207	HP:0001260	Dysarthria
ORPHA:67047	OPA3	80207	HP:0001251	Ataxia
ORPHA:67047	OPA3	80207	HP:0001249	Intellectual disability
ORPHA:67047	OPA3	80207	HP:0003535	3-Methylglutaconic aciduria
ORPHA:67047	OPA3	80207	HP:0000505	Visual impairment
ORPHA:67047	OPA3	80207	HP:0002313	Spastic paraparesis
ORPHA:67047	OPA3	80207	HP:0000639	Nystagmus
ORPHA:67047	OPA3	80207	HP:0001266	Choreoathetosis
OMIM:615824	UQCC2	84300	HP:0000028	Cryptorchidism
OMIM:615824	UQCC2	84300	HP:0001511	Intrauterine growth retardation
OMIM:615824	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:615824	UQCC2	84300	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCC2	84300	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCC2	84300	HP:0002465	Poor speech
OMIM:615824	UQCC2	84300	HP:0002049	Proximal renal tubular acidosis
OMIM:615824	UQCC2	84300	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCC2	84300	HP:0000664	Synophrys
OMIM:615824	UQCC2	84300	HP:0000718	Aggressive behavior
OMIM:615824	UQCC2	84300	HP:0001942	Metabolic acidosis
OMIM:615824	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:615824	UQCC2	84300	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCC2	84300	HP:0001250	Seizures
OMIM:615824	UQCC2	84300	HP:0003593	Infantile onset
OMIM:615824	UQCC2	84300	HP:0000752	Hyperactivity
OMIM:615824	UQCC2	84300	HP:0000286	Epicanthus
OMIM:190440	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:190440	FGFR1	2260	HP:0000040	Long penis
OMIM:190440	FGFR1	2260	HP:0000243	Trigonocephaly
OMIM:190440	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:190440	FGFR1	2260	HP:0000252	Microcephaly
OMIM:190440	FGFR1	2260	HP:0000664	Synophrys
OMIM:190440	FGFR1	2260	HP:0001539	Omphalocele
OMIM:190440	FGFR1	2260	HP:0008439	Lumbar hemivertebrae
OMIM:190440	FGFR1	2260	HP:0002245	Meckel diverticulum
OMIM:190440	FGFR1	2260	HP:0000384	Preauricular skin tag
OMIM:190440	FGFR1	2260	HP:0000601	Hypotelorism
OMIM:135900	ARID1B	57492	HP:0000574	Thick eyebrow
OMIM:135900	ARID1B	57492	HP:0001511	Intrauterine growth retardation
OMIM:135900	ARID1B	57492	HP:0000505	Visual impairment
OMIM:135900	ARID1B	57492	HP:0002750	Delayed skeletal maturation
OMIM:135900	ARID1B	57492	HP:0000280	Coarse facial features
OMIM:135900	ARID1B	57492	HP:0001537	Umbilical hernia
OMIM:135900	ARID1B	57492	HP:0000365	Hearing impairment
OMIM:135900	ARID1B	57492	HP:0004322	Short stature
OMIM:135900	ARID1B	57492	HP:0000126	Hydronephrosis
OMIM:135900	ARID1B	57492	HP:0000358	Posteriorly rotated ears
OMIM:135900	ARID1B	57492	HP:0000369	Low-set ears
OMIM:135900	ARID1B	57492	HP:0000179	Thick lower lip vermilion
OMIM:135900	ARID1B	57492	HP:0002588	Duodenal ulcer
OMIM:135900	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
OMIM:135900	ARID1B	57492	HP:0003812	Phenotypic variability
OMIM:135900	ARID1B	57492	HP:0000219	Thin upper lip vermilion
OMIM:135900	ARID1B	57492	HP:0000954	Single transverse palmar crease
OMIM:135900	ARID1B	57492	HP:0000545	Myopia
OMIM:135900	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:135900	ARID1B	57492	HP:0008897	Postnatal growth retardation
OMIM:135900	ARID1B	57492	HP:0000601	Hypotelorism
OMIM:135900	ARID1B	57492	HP:0003298	Spina bifida occulta
OMIM:135900	ARID1B	57492	HP:0000879	Short sternum
OMIM:135900	ARID1B	57492	HP:0006863	Severe expressive language delay
OMIM:135900	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:135900	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:135900	ARID1B	57492	HP:0000965	Cutis marmorata
OMIM:135900	ARID1B	57492	HP:0002808	Kyphosis
OMIM:135900	ARID1B	57492	HP:0002576	Intussusception
OMIM:135900	ARID1B	57492	HP:0000047	Hypospadias
OMIM:135900	ARID1B	57492	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	ARID1B	57492	HP:0001028	Hemangioma
OMIM:135900	ARID1B	57492	HP:0009747	Lumbosacral hirsutism
OMIM:135900	ARID1B	57492	HP:0000960	Sacral dimple
OMIM:135900	ARID1B	57492	HP:0000384	Preauricular skin tag
OMIM:135900	ARID1B	57492	HP:0000718	Aggressive behavior
OMIM:135900	ARID1B	57492	HP:0001631	Atrial septal defect
OMIM:135900	ARID1B	57492	HP:0001263	Global developmental delay
OMIM:135900	ARID1B	57492	HP:0005280	Depressed nasal bridge
OMIM:135900	ARID1B	57492	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	ARID1B	57492	HP:0000252	Microcephaly
OMIM:135900	ARID1B	57492	HP:0000086	Ectopic kidney
OMIM:135900	ARID1B	57492	HP:0000508	Ptosis
OMIM:135900	ARID1B	57492	HP:0000639	Nystagmus
OMIM:135900	ARID1B	57492	HP:0001629	Ventricular septal defect
OMIM:135900	ARID1B	57492	HP:0000028	Cryptorchidism
OMIM:135900	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:135900	ARID1B	57492	HP:0000154	Wide mouth
OMIM:135900	ARID1B	57492	HP:0003083	Dislocated radial head
OMIM:135900	ARID1B	57492	HP:0000007	Autosomal recessive inheritance
OMIM:135900	ARID1B	57492	HP:0002205	Recurrent respiratory infections
OMIM:135900	ARID1B	57492	HP:0001643	Patent ductus arteriosus
OMIM:135900	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:135900	ARID1B	57492	HP:0001250	Seizures
OMIM:135900	ARID1B	57492	HP:0002673	Coxa valga
OMIM:135900	ARID1B	57492	HP:0000023	Inguinal hernia
OMIM:135900	ARID1B	57492	HP:0000486	Strabismus
OMIM:135900	ARID1B	57492	HP:0000175	Cleft palate
OMIM:135900	ARID1B	57492	HP:0000218	High palate
OMIM:135900	ARID1B	57492	HP:0000089	Renal hypoplasia
OMIM:135900	ARID1B	57492	HP:0001305	Dandy-Walker malformation
OMIM:135900	ARID1B	57492	HP:0000684	Delayed eruption of teeth
OMIM:135900	ARID1B	57492	HP:0002650	Scoliosis
OMIM:135900	ARID1B	57492	HP:0000453	Choanal atresia
OMIM:135900	ARID1B	57492	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0006237	Prominent interphalangeal joints
OMIM:135900	ARID1B	57492	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	ARID1B	57492	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	ARID1B	57492	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	ARID1B	57492	HP:0000455	Broad nasal tip
OMIM:135900	ARID1B	57492	HP:0000729	Autistic behavior
OMIM:135900	ARID1B	57492	HP:0001636	Tetralogy of Fallot
OMIM:135900	ARID1B	57492	HP:0002592	Gastric ulcer
OMIM:135900	ARID1B	57492	HP:0000483	Astigmatism
OMIM:135900	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:135900	ARID1B	57492	HP:0002219	Facial hypertrichosis
OMIM:135900	ARID1B	57492	HP:0001388	Joint laxity
OMIM:135900	ARID1B	57492	HP:0002566	Intestinal malrotation
OMIM:135900	ARID1B	57492	HP:0000151	Aplasia of the uterus
OMIM:227646	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:227646	FANCD2	2177	HP:0000081	Duplicated collecting system
OMIM:227646	FANCD2	2177	HP:0001903	Anemia
OMIM:227646	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCD2	2177	HP:0000978	Bruising susceptibility
OMIM:227646	FANCD2	2177	HP:0004322	Short stature
OMIM:227646	FANCD2	2177	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCD2	2177	HP:0000486	Strabismus
OMIM:227646	FANCD2	2177	HP:0003974	Absent radius
OMIM:227646	FANCD2	2177	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:227646	FANCD2	2177	HP:0001017	Anemic pallor
OMIM:227646	FANCD2	2177	HP:0009778	Short thumb
OMIM:227646	FANCD2	2177	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCD2	2177	HP:0000252	Microcephaly
OMIM:227646	FANCD2	2177	HP:0001249	Intellectual disability
OMIM:227646	FANCD2	2177	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:227646	FANCD2	2177	HP:0001896	Reticulocytopenia
OMIM:227646	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:227646	FANCD2	2177	HP:0001627	Abnormal heart morphology
OMIM:227646	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCD2	2177	HP:0001909	Leukemia
OMIM:227646	FANCD2	2177	HP:0001518	Small for gestational age
OMIM:227646	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCD2	2177	HP:0001875	Neutropenia
OMIM:227646	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:227646	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:227646	FANCD2	2177	HP:0009777	Absent thumb
OMIM:227646	FANCD2	2177	HP:0000086	Ectopic kidney
OMIM:227646	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:227646	FANCD2	2177	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614932	PNPT1	87178	HP:0001265	Hyporeflexia
OMIM:614932	PNPT1	87178	HP:0001266	Choreoathetosis
OMIM:614932	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614932	PNPT1	87178	HP:0000762	Decreased nerve conduction velocity
OMIM:614932	PNPT1	87178	HP:0006829	Severe muscular hypotonia
OMIM:614932	PNPT1	87178	HP:0001332	Dystonia
OMIM:614932	PNPT1	87178	HP:0001510	Growth delay
OMIM:614932	PNPT1	87178	HP:0001344	Absent speech
OMIM:614932	PNPT1	87178	HP:0003202	Skeletal muscle atrophy
OMIM:614932	PNPT1	87178	HP:0100660	Dyskinesia
ORPHA:633	GHR	2690	HP:0001156	Brachydactyly
ORPHA:633	GHR	2690	HP:0001956	Truncal obesity
ORPHA:633	GHR	2690	HP:0009804	Reduced number of teeth
ORPHA:633	GHR	2690	HP:0003510	Severe short stature
ORPHA:633	GHR	2690	HP:0005281	Hypoplastic nasal bridge
ORPHA:633	GHR	2690	HP:0000684	Delayed eruption of teeth
ORPHA:633	GHR	2690	HP:0001943	Hypoglycemia
ORPHA:633	GHR	2690	HP:0000823	Delayed puberty
ORPHA:633	GHR	2690	HP:0002750	Delayed skeletal maturation
ORPHA:633	GHR	2690	HP:0001999	Abnormal facial shape
ORPHA:633	GHR	2690	HP:0000348	High forehead
ORPHA:633	GHR	2690	HP:0001270	Motor delay
ORPHA:633	GHR	2690	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:633	GHR	2690	HP:0000347	Micrognathia
ORPHA:633	GHR	2690	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:633	GHR	2690	HP:0000691	Microdontia
ORPHA:633	GHR	2690	HP:0009811	Abnormality of the elbow
ORPHA:633	GHR	2690	HP:0001831	Short toe
ORPHA:633	GHR	2690	HP:0008736	Hypoplasia of penis
ORPHA:526	SCNN1B	6338	HP:0000822	Hypertension
ORPHA:526	SCNN1B	6338	HP:0011675	Arrhythmia
ORPHA:526	SCNN1B	6338	HP:0002637	Cerebral ischemia
ORPHA:526	SCNN1B	6338	HP:0001324	Muscle weakness
ORPHA:526	SCNN1B	6338	HP:0000112	Nephropathy
ORPHA:526	SCNN1B	6338	HP:0000083	Renal insufficiency
ORPHA:526	SCNN1B	6338	HP:0002019	Constipation
ORPHA:526	SCNN1B	6338	HP:0012378	Fatigue
ORPHA:526	SCNN1B	6338	HP:0002900	Hypokalemia
ORPHA:526	SCNN1G	6340	HP:0000822	Hypertension
ORPHA:526	SCNN1G	6340	HP:0011675	Arrhythmia
ORPHA:526	SCNN1G	6340	HP:0002637	Cerebral ischemia
ORPHA:526	SCNN1G	6340	HP:0001324	Muscle weakness
ORPHA:526	SCNN1G	6340	HP:0000112	Nephropathy
ORPHA:526	SCNN1G	6340	HP:0000083	Renal insufficiency
ORPHA:526	SCNN1G	6340	HP:0002019	Constipation
ORPHA:526	SCNN1G	6340	HP:0012378	Fatigue
ORPHA:526	SCNN1G	6340	HP:0002900	Hypokalemia
OMIM:216900	CNGA3	1261	HP:0000618	Blindness
OMIM:216900	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:216900	CNGA3	1261	HP:0000613	Photophobia
OMIM:216900	CNGA3	1261	HP:0012047	Hemeralopia
OMIM:216900	CNGA3	1261	HP:0000639	Nystagmus
OMIM:216900	CNGA3	1261	HP:0011516	Achromatopsia
OMIM:611560	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:611560	RPGRIP1L	23322	HP:0002508	Brainstem dysplasia
OMIM:611560	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:611560	RPGRIP1L	23322	HP:0100259	Postaxial polydactyly
OMIM:611560	RPGRIP1L	23322	HP:0002365	Hypoplasia of the brainstem
OMIM:611560	RPGRIP1L	23322	HP:0002650	Scoliosis
OMIM:611560	RPGRIP1L	23322	HP:0001290	Generalized hypotonia
OMIM:611560	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:611560	RPGRIP1L	23322	HP:0002876	Episodic tachypnea
OMIM:611560	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:611560	RPGRIP1L	23322	HP:0003812	Phenotypic variability
OMIM:611560	RPGRIP1L	23322	HP:0001425	Heterogeneous
OMIM:611560	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:611560	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:611560	RPGRIP1L	23322	HP:0000508	Ptosis
OMIM:611560	RPGRIP1L	23322	HP:0000556	Retinal dystrophy
OMIM:611560	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
OMIM:611560	RPGRIP1L	23322	HP:0001249	Intellectual disability
OMIM:611560	RPGRIP1L	23322	HP:0000090	Nephronophthisis
OMIM:611560	RPGRIP1L	23322	HP:0001263	Global developmental delay
OMIM:611560	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:611560	RPGRIP1L	23322	HP:0001273	Abnormality of the corpus callosum
OMIM:611560	RPGRIP1L	23322	HP:0002790	Neonatal breathing dysregulation
OMIM:611560	RPGRIP1L	23322	HP:0002871	Central apnea
OMIM:155755	CDKN2A	1029	HP:0009592	Astrocytoma
OMIM:155755	CDKN2A	1029	HP:0012056	Cutaneous melanoma
OMIM:155755	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:603516	ATXN10	25814	HP:0001250	Seizures
OMIM:603516	ATXN10	25814	HP:0002066	Gait ataxia
OMIM:603516	ATXN10	25814	HP:0007256	Abnormal pyramidal signs
OMIM:603516	ATXN10	25814	HP:0000020	Urinary incontinence
OMIM:603516	ATXN10	25814	HP:0000716	Depressivity
OMIM:603516	ATXN10	25814	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:603516	ATXN10	25814	HP:0000762	Decreased nerve conduction velocity
OMIM:603516	ATXN10	25814	HP:0003743	Genetic anticipation
OMIM:603516	ATXN10	25814	HP:0002311	Incoordination
OMIM:603516	ATXN10	25814	HP:0001272	Cerebellar atrophy
OMIM:603516	ATXN10	25814	HP:0002168	Scanning speech
OMIM:603516	ATXN10	25814	HP:0002073	Progressive cerebellar ataxia
OMIM:603516	ATXN10	25814	HP:0002075	Dysdiadochokinesis
OMIM:603516	ATXN10	25814	HP:0002015	Dysphagia
OMIM:603516	ATXN10	25814	HP:0001310	Dysmetria
OMIM:603516	ATXN10	25814	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:603516	ATXN10	25814	HP:0000006	Autosomal dominant inheritance
OMIM:603516	ATXN10	25814	HP:0000639	Nystagmus
OMIM:603516	ATXN10	25814	HP:0001260	Dysarthria
OMIM:603516	ATXN10	25814	HP:0001347	Hyperreflexia
OMIM:603516	ATXN10	25814	HP:0002070	Limb ataxia
OMIM:603516	ATXN10	25814	HP:0000012	Urinary urgency
OMIM:603516	ATXN10	25814	HP:0000726	Dementia
OMIM:603516	ATXN10	25814	HP:0003829	Incomplete penetrance
OMIM:608203	RAC2	5880	HP:0002721	Immunodeficiency
OMIM:606854	ADGRG1	9289	HP:0003487	Babinski sign
OMIM:606854	ADGRG1	9289	HP:0006821	Polymicrogyria, anterior to posterior gradient
OMIM:606854	ADGRG1	9289	HP:0007266	Cerebral dysmyelination
OMIM:606854	ADGRG1	9289	HP:0001276	Hypertonia
OMIM:606854	ADGRG1	9289	HP:0000639	Nystagmus
OMIM:606854	ADGRG1	9289	HP:0001321	Cerebellar hypoplasia
OMIM:606854	ADGRG1	9289	HP:0002365	Hypoplasia of the brainstem
OMIM:606854	ADGRG1	9289	HP:0001347	Hyperreflexia
OMIM:606854	ADGRG1	9289	HP:0001249	Intellectual disability
OMIM:606854	ADGRG1	9289	HP:0001250	Seizures
OMIM:606854	ADGRG1	9289	HP:0000007	Autosomal recessive inheritance
OMIM:606854	ADGRG1	9289	HP:0002136	Broad-based gait
OMIM:606854	ADGRG1	9289	HP:0000565	Esotropia
OMIM:606854	ADGRG1	9289	HP:0000577	Exotropia
OMIM:606854	ADGRG1	9289	HP:0002078	Truncal ataxia
OMIM:606854	ADGRG1	9289	HP:0011448	Ankle clonus
OMIM:606854	ADGRG1	9289	HP:0007095	Frontoparietal polymicrogyria
OMIM:606854	ADGRG1	9289	HP:0001263	Global developmental delay
ORPHA:89838	KRT14	3861	HP:0001903	Anemia
ORPHA:89838	KRT14	3861	HP:0006297	Hypoplasia of dental enamel
ORPHA:89838	KRT14	3861	HP:0008066	Abnormal blistering of the skin
ORPHA:89838	KRT14	3861	HP:0000982	Palmoplantar keratoderma
ORPHA:89838	KRT14	3861	HP:0001510	Growth delay
ORPHA:89838	KRT14	3861	HP:0000670	Carious teeth
ORPHA:89838	KRT14	3861	HP:0001075	Atrophic scars
OMIM:617391	HNRNPU	3192	HP:0012448	Delayed myelination
OMIM:617391	HNRNPU	3192	HP:0003593	Infantile onset
OMIM:617391	HNRNPU	3192	HP:0000252	Microcephaly
OMIM:617391	HNRNPU	3192	HP:0001263	Global developmental delay
OMIM:617391	HNRNPU	3192	HP:0001250	Seizures
OMIM:617391	HNRNPU	3192	HP:0001249	Intellectual disability
OMIM:617391	HNRNPU	3192	HP:0001290	Generalized hypotonia
OMIM:617391	HNRNPU	3192	HP:0200134	Epileptic encephalopathy
OMIM:617391	HNRNPU	3192	HP:0002353	EEG abnormality
OMIM:617391	HNRNPU	3192	HP:0000006	Autosomal dominant inheritance
OMIM:617391	HNRNPU	3192	HP:0002119	Ventriculomegaly
OMIM:611809	BEST1	7439	HP:0012045	Retinal flecks
OMIM:611809	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:611809	BEST1	7439	HP:0000540	Hypermetropia
OMIM:611809	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:611809	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:611809	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:617123	POMGNT1	55624	HP:0000662	Nyctalopia
OMIM:617123	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:617123	POMGNT1	55624	HP:0007663	Reduced visual acuity
ORPHA:2024	REST	5978	HP:0000212	Gingival overgrowth
ORPHA:2024	REST	5978	HP:0000169	Gingival fibromatosis
ORPHA:2024	SOS1	6654	HP:0000212	Gingival overgrowth
ORPHA:2024	SOS1	6654	HP:0000169	Gingival fibromatosis
ORPHA:2884	KIT	3815	HP:0007544	Piebaldism
ORPHA:2884	KIT	3815	HP:0002227	White eyelashes
ORPHA:2884	KIT	3815	HP:0001053	Hypopigmented skin patches
ORPHA:2884	KIT	3815	HP:0002226	White eyebrow
ORPHA:2884	KIT	3815	HP:0002211	White forelock
ORPHA:2884	KIT	3815	HP:0012733	Macule
ORPHA:2884	SNAI2	6591	HP:0007544	Piebaldism
ORPHA:2884	SNAI2	6591	HP:0002227	White eyelashes
ORPHA:2884	SNAI2	6591	HP:0001053	Hypopigmented skin patches
ORPHA:2884	SNAI2	6591	HP:0002226	White eyebrow
ORPHA:2884	SNAI2	6591	HP:0002211	White forelock
ORPHA:2884	SNAI2	6591	HP:0012733	Macule
OMIM:608641	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:608641	GRHL2	79977	HP:0003676	Progressive
OMIM:608641	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:615978	IFNGR1	3459	HP:0005661	Salmonella osteomyelitis
OMIM:615978	IFNGR1	3459	HP:0002721	Immunodeficiency
OMIM:615978	IFNGR1	3459	HP:0000006	Autosomal dominant inheritance
OMIM:615978	IFNGR1	3459	HP:0008940	Generalized lymphadenopathy
OMIM:615978	IFNGR1	3459	HP:0002754	Osteomyelitis
OMIM:615978	IFNGR1	3459	HP:0011274	Recurrent mycobacterial infections
ORPHA:1388	TGDS	23483	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1388	TGDS	23483	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1388	TGDS	23483	HP:0000162	Glossoptosis
ORPHA:1388	TGDS	23483	HP:0001508	Failure to thrive
ORPHA:1388	TGDS	23483	HP:0000293	Full cheeks
ORPHA:1388	TGDS	23483	HP:0000347	Micrognathia
ORPHA:1388	TGDS	23483	HP:0000175	Cleft palate
ORPHA:1388	TGDS	23483	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1388	TGDS	23483	HP:0002650	Scoliosis
ORPHA:1388	TGDS	23483	HP:0001387	Joint stiffness
ORPHA:1388	TGDS	23483	HP:0000272	Malar flattening
ORPHA:1388	TGDS	23483	HP:0001629	Ventricular septal defect
ORPHA:1388	TGDS	23483	HP:0000389	Chronic otitis media
ORPHA:1388	TGDS	23483	HP:0004322	Short stature
ORPHA:1388	TGDS	23483	HP:0002553	Highly arched eyebrow
OMIM:300088	PCDH19	57526	HP:0000718	Aggressive behavior
OMIM:300088	PCDH19	57526	HP:0001417	X-linked inheritance
OMIM:300088	PCDH19	57526	HP:0002123	Generalized myoclonic seizures
OMIM:300088	PCDH19	57526	HP:0000709	Psychosis
OMIM:300088	PCDH19	57526	HP:0003593	Infantile onset
OMIM:300088	PCDH19	57526	HP:0002121	Absence seizures
OMIM:300088	PCDH19	57526	HP:0002133	Status epilepticus
OMIM:300088	PCDH19	57526	HP:0010819	Atonic seizures
OMIM:300088	PCDH19	57526	HP:0002069	Generalized tonic-clonic seizures
OMIM:300088	PCDH19	57526	HP:0007359	Focal seizures
OMIM:300088	PCDH19	57526	HP:0001249	Intellectual disability
OMIM:300088	PCDH19	57526	HP:0001263	Global developmental delay
ORPHA:94064	CATSPER2	117155	HP:0003251	Male infertility
ORPHA:94064	CATSPER2	117155	HP:0000027	Azoospermia
ORPHA:94064	CATSPER2	117155	HP:0000407	Sensorineural hearing impairment
ORPHA:94064	STRC	161497	HP:0003251	Male infertility
ORPHA:94064	STRC	161497	HP:0000027	Azoospermia
ORPHA:94064	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:310400	MTM1	4534	HP:0010628	Facial palsy
OMIM:310400	MTM1	4534	HP:0001284	Areflexia
OMIM:310400	MTM1	4534	HP:0004887	Respiratory failure requiring assisted ventilation
OMIM:310400	MTM1	4534	HP:0000238	Hydrocephalus
OMIM:310400	MTM1	4534	HP:0001561	Polyhydramnios
OMIM:310400	MTM1	4534	HP:0000256	Macrocephaly
OMIM:310400	MTM1	4534	HP:0006829	Severe muscular hypotonia
OMIM:310400	MTM1	4534	HP:0000275	Narrow face
OMIM:310400	MTM1	4534	HP:0000028	Cryptorchidism
OMIM:310400	MTM1	4534	HP:0003324	Generalized muscle weakness
OMIM:310400	MTM1	4534	HP:0001166	Arachnodactyly
OMIM:310400	MTM1	4534	HP:0001371	Flexion contracture
OMIM:310400	MTM1	4534	HP:0001410	Decreased liver function
OMIM:310400	MTM1	4534	HP:0000276	Long face
OMIM:310400	MTM1	4534	HP:0001558	Decreased fetal movement
OMIM:310400	MTM1	4534	HP:0002375	Hypokinesia
OMIM:310400	MTM1	4534	HP:0009110	Diaphragmatic eventration
OMIM:310400	MTM1	4534	HP:0000218	High palate
OMIM:310400	MTM1	4534	HP:0011308	Slender toe
OMIM:310400	MTM1	4534	HP:0000544	External ophthalmoplegia
OMIM:310400	MTM1	4534	HP:0002643	Neonatal respiratory distress
OMIM:310400	MTM1	4534	HP:0003517	Birth length greater than 97th percentile
OMIM:310400	MTM1	4534	HP:0002021	Pyloric stenosis
OMIM:310400	MTM1	4534	HP:0000467	Neck muscle weakness
OMIM:310400	MTM1	4534	HP:0001419	X-linked recessive inheritance
OMIM:616231	CASQ1	844	HP:0003388	Easy fatigability
OMIM:616231	CASQ1	844	HP:0003394	Muscle cramps
OMIM:616231	CASQ1	844	HP:0003701	Proximal muscle weakness
OMIM:616231	CASQ1	844	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616231	CASQ1	844	HP:0000006	Autosomal dominant inheritance
OMIM:616231	CASQ1	844	HP:0001324	Muscle weakness
OMIM:616231	CASQ1	844	HP:0003326	Myalgia
OMIM:614199	LAMB2	3913	HP:0000639	Nystagmus
OMIM:614199	LAMB2	3913	HP:0000100	Nephrotic syndrome
OMIM:614199	LAMB2	3913	HP:0000545	Myopia
OMIM:614199	LAMB2	3913	HP:0003774	Stage 5 chronic kidney disease
OMIM:614199	LAMB2	3913	HP:0000007	Autosomal recessive inheritance
OMIM:614199	LAMB2	3913	HP:0000093	Proteinuria
OMIM:614199	LAMB2	3913	HP:0000486	Strabismus
ORPHA:376	PIEZO2	63895	HP:0100490	Camptodactyly of finger
ORPHA:376	PIEZO2	63895	HP:0001883	Talipes
ORPHA:376	PIEZO2	63895	HP:0003199	Decreased muscle mass
ORPHA:376	PIEZO2	63895	HP:0000218	High palate
OMIM:609533	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609533	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609533	PCDH15	65217	HP:0003593	Infantile onset
OMIM:603147	ALG6	29929	HP:0001929	Reduced factor XI activity
OMIM:603147	ALG6	29929	HP:0000007	Autosomal recessive inheritance
OMIM:603147	ALG6	29929	HP:0001284	Areflexia
OMIM:603147	ALG6	29929	HP:0001976	Reduced antithrombin III activity
OMIM:603147	ALG6	29929	HP:0001250	Seizures
OMIM:603147	ALG6	29929	HP:0001251	Ataxia
OMIM:603147	ALG6	29929	HP:0000486	Strabismus
OMIM:603147	ALG6	29929	HP:0008936	Muscular hypotonia of the trunk
OMIM:603147	ALG6	29929	HP:0001263	Global developmental delay
OMIM:603147	ALG6	29929	HP:0003642	Type I transferrin isoform profile
OMIM:603147	ALG6	29929	HP:0008150	Elevated serum transaminases during infections
OMIM:606071	TRPV4	59341	HP:0200021	Down-sloping shoulders
OMIM:606071	TRPV4	59341	HP:0001604	Vocal cord paresis
OMIM:606071	TRPV4	59341	HP:0002870	Obstructive sleep apnea
OMIM:606071	TRPV4	59341	HP:0009027	Foot dorsiflexor weakness
OMIM:606071	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:606071	TRPV4	59341	HP:0010307	Stridor
OMIM:606071	TRPV4	59341	HP:0003674	Onset
OMIM:606071	TRPV4	59341	HP:0002936	Distal sensory impairment
OMIM:606071	TRPV4	59341	HP:0004878	Intercostal muscle weakness
OMIM:606071	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:606071	TRPV4	59341	HP:0000407	Sensorineural hearing impairment
OMIM:606071	TRPV4	59341	HP:0001765	Hammertoe
OMIM:606071	TRPV4	59341	HP:0000763	Sensory neuropathy
OMIM:606071	TRPV4	59341	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606071	TRPV4	59341	HP:0002650	Scoliosis
OMIM:606071	TRPV4	59341	HP:0002460	Distal muscle weakness
OMIM:606071	TRPV4	59341	HP:0012246	Oculomotor nerve palsy
OMIM:606071	TRPV4	59341	HP:0001761	Pes cavus
OMIM:606071	TRPV4	59341	HP:0009113	Diaphragmatic weakness
OMIM:606071	TRPV4	59341	HP:0000020	Urinary incontinence
OMIM:606071	TRPV4	59341	HP:0007230	Decreased distal sensory nerve action potential
OMIM:606071	TRPV4	59341	HP:0009130	Hand muscle atrophy
OMIM:606071	TRPV4	59341	HP:0000012	Urinary urgency
OMIM:606071	TRPV4	59341	HP:0002878	Respiratory failure
OMIM:606071	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:606071	TRPV4	59341	HP:0001284	Areflexia
OMIM:606071	TRPV4	59341	HP:0011349	Abducens palsy
OMIM:604233	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:604233	SCN1B	6324	HP:0003829	Incomplete penetrance
OMIM:604233	SCN1B	6324	HP:0002121	Absence seizures
OMIM:604233	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:604233	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:616366	KCNA2	3737	HP:0001251	Ataxia
OMIM:616366	KCNA2	3737	HP:0001250	Seizures
OMIM:616366	KCNA2	3737	HP:0001336	Myoclonus
OMIM:616366	KCNA2	3737	HP:0003593	Infantile onset
OMIM:616366	KCNA2	3737	HP:0000006	Autosomal dominant inheritance
OMIM:616366	KCNA2	3737	HP:0001337	Tremor
OMIM:616366	KCNA2	3737	HP:0001249	Intellectual disability
OMIM:616366	KCNA2	3737	HP:0200134	Epileptic encephalopathy
ORPHA:93476	IDUA	3425	HP:0003468	Abnormal vertebral morphology
ORPHA:93476	IDUA	3425	HP:0002240	Hepatomegaly
ORPHA:93476	IDUA	3425	HP:0007256	Abnormal pyramidal signs
ORPHA:93476	IDUA	3425	HP:0100790	Hernia
ORPHA:93476	IDUA	3425	HP:0001744	Splenomegaly
ORPHA:93476	IDUA	3425	HP:0007957	Corneal opacity
ORPHA:93476	IDUA	3425	HP:0004322	Short stature
ORPHA:93476	IDUA	3425	HP:0002652	Skeletal dysplasia
ORPHA:93476	IDUA	3425	HP:0001654	Abnormality of the heart valves
ORPHA:93476	IDUA	3425	HP:0000407	Sensorineural hearing impairment
ORPHA:93476	IDUA	3425	HP:0003416	Spinal canal stenosis
ORPHA:93476	IDUA	3425	HP:0040129	Abnormal nerve conduction velocity
ORPHA:93476	IDUA	3425	HP:0000280	Coarse facial features
ORPHA:93476	IDUA	3425	HP:0001376	Limitation of joint mobility
ORPHA:93476	IDUA	3425	HP:0100765	Abnormality of the tonsils
ORPHA:93476	IDUA	3425	HP:0012384	Rhinitis
OMIM:602481	ATP1A2	477	HP:0002131	Episodic ataxia
OMIM:602481	ATP1A2	477	HP:0000651	Diplopia
OMIM:602481	ATP1A2	477	HP:0002381	Aphasia
OMIM:602481	ATP1A2	477	HP:0000622	Blurred vision
OMIM:602481	ATP1A2	477	HP:0001250	Seizures
OMIM:602481	ATP1A2	477	HP:0002077	Migraine with aura
OMIM:602481	ATP1A2	477	HP:0002321	Vertigo
OMIM:602481	ATP1A2	477	HP:0001249	Intellectual disability
OMIM:602481	ATP1A2	477	HP:0003829	Incomplete penetrance
OMIM:602481	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:602481	ATP1A2	477	HP:0001289	Confusion
OMIM:602481	ATP1A2	477	HP:0002357	Dysphasia
OMIM:602481	ATP1A2	477	HP:0002329	Drowsiness
OMIM:602481	ATP1A2	477	HP:0002301	Hemiplegia
OMIM:602481	ATP1A2	477	HP:0001125	Transient unilateral blurring of vision
OMIM:602481	ATP1A2	477	HP:0002186	Apraxia
OMIM:602481	ATP1A2	477	HP:0001945	Fever
OMIM:602481	ATP1A2	477	HP:0001259	Coma
OMIM:602481	ATP1A2	477	HP:0001269	Hemiparesis
OMIM:602481	ATP1A2	477	HP:0001425	Heterogeneous
OMIM:602481	ATP1A2	477	HP:0001260	Dysarthria
ORPHA:91387	TGFB2	7042	HP:0001677	Coronary artery disease
ORPHA:91387	TGFB2	7042	HP:0000965	Cutis marmorata
ORPHA:91387	TGFB2	7042	HP:0001640	Cardiomegaly
ORPHA:91387	TGFB2	7042	HP:0004933	Ascending aortic dissection
ORPHA:91387	TGFB2	7042	HP:0000525	Abnormality of the iris
ORPHA:91387	TGFB2	7042	HP:0002875	Exertional dyspnea
ORPHA:91387	TGFB2	7042	HP:0000822	Hypertension
ORPHA:91387	TGFB2	7042	HP:0001659	Aortic regurgitation
ORPHA:91387	TGFB2	7042	HP:0100749	Chest pain
ORPHA:91387	TGFB2	7042	HP:0005162	Left ventricular failure
ORPHA:91387	TGFB2	7042	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	TGFB2	7042	HP:0012499	Descending aortic dissection
ORPHA:91387	TGFB2	7042	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	TGFB3	7043	HP:0001677	Coronary artery disease
ORPHA:91387	TGFB3	7043	HP:0000965	Cutis marmorata
ORPHA:91387	TGFB3	7043	HP:0001640	Cardiomegaly
ORPHA:91387	TGFB3	7043	HP:0004933	Ascending aortic dissection
ORPHA:91387	TGFB3	7043	HP:0000525	Abnormality of the iris
ORPHA:91387	TGFB3	7043	HP:0002875	Exertional dyspnea
ORPHA:91387	TGFB3	7043	HP:0000822	Hypertension
ORPHA:91387	TGFB3	7043	HP:0001659	Aortic regurgitation
ORPHA:91387	TGFB3	7043	HP:0100749	Chest pain
ORPHA:91387	TGFB3	7043	HP:0005162	Left ventricular failure
ORPHA:91387	TGFB3	7043	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	TGFB3	7043	HP:0012499	Descending aortic dissection
ORPHA:91387	TGFB3	7043	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	TGFBR1	7046	HP:0001677	Coronary artery disease
ORPHA:91387	TGFBR1	7046	HP:0000965	Cutis marmorata
ORPHA:91387	TGFBR1	7046	HP:0001640	Cardiomegaly
ORPHA:91387	TGFBR1	7046	HP:0004933	Ascending aortic dissection
ORPHA:91387	TGFBR1	7046	HP:0000525	Abnormality of the iris
ORPHA:91387	TGFBR1	7046	HP:0002875	Exertional dyspnea
ORPHA:91387	TGFBR1	7046	HP:0000822	Hypertension
ORPHA:91387	TGFBR1	7046	HP:0001659	Aortic regurgitation
ORPHA:91387	TGFBR1	7046	HP:0100749	Chest pain
ORPHA:91387	TGFBR1	7046	HP:0005162	Left ventricular failure
ORPHA:91387	TGFBR1	7046	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	TGFBR1	7046	HP:0012499	Descending aortic dissection
ORPHA:91387	TGFBR1	7046	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	TGFBR2	7048	HP:0001677	Coronary artery disease
ORPHA:91387	TGFBR2	7048	HP:0000965	Cutis marmorata
ORPHA:91387	TGFBR2	7048	HP:0001640	Cardiomegaly
ORPHA:91387	TGFBR2	7048	HP:0004933	Ascending aortic dissection
ORPHA:91387	TGFBR2	7048	HP:0000525	Abnormality of the iris
ORPHA:91387	TGFBR2	7048	HP:0002875	Exertional dyspnea
ORPHA:91387	TGFBR2	7048	HP:0000822	Hypertension
ORPHA:91387	TGFBR2	7048	HP:0001659	Aortic regurgitation
ORPHA:91387	TGFBR2	7048	HP:0100749	Chest pain
ORPHA:91387	TGFBR2	7048	HP:0005162	Left ventricular failure
ORPHA:91387	TGFBR2	7048	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	TGFBR2	7048	HP:0012499	Descending aortic dissection
ORPHA:91387	TGFBR2	7048	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	MFAP5	8076	HP:0001677	Coronary artery disease
ORPHA:91387	MFAP5	8076	HP:0000965	Cutis marmorata
ORPHA:91387	MFAP5	8076	HP:0001640	Cardiomegaly
ORPHA:91387	MFAP5	8076	HP:0004933	Ascending aortic dissection
ORPHA:91387	MFAP5	8076	HP:0000525	Abnormality of the iris
ORPHA:91387	MFAP5	8076	HP:0002875	Exertional dyspnea
ORPHA:91387	MFAP5	8076	HP:0000822	Hypertension
ORPHA:91387	MFAP5	8076	HP:0001659	Aortic regurgitation
ORPHA:91387	MFAP5	8076	HP:0100749	Chest pain
ORPHA:91387	MFAP5	8076	HP:0005162	Left ventricular failure
ORPHA:91387	MFAP5	8076	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	MFAP5	8076	HP:0012499	Descending aortic dissection
ORPHA:91387	MFAP5	8076	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	LOX	4015	HP:0001677	Coronary artery disease
ORPHA:91387	LOX	4015	HP:0000965	Cutis marmorata
ORPHA:91387	LOX	4015	HP:0001640	Cardiomegaly
ORPHA:91387	LOX	4015	HP:0004933	Ascending aortic dissection
ORPHA:91387	LOX	4015	HP:0000525	Abnormality of the iris
ORPHA:91387	LOX	4015	HP:0002875	Exertional dyspnea
ORPHA:91387	LOX	4015	HP:0000822	Hypertension
ORPHA:91387	LOX	4015	HP:0001659	Aortic regurgitation
ORPHA:91387	LOX	4015	HP:0100749	Chest pain
ORPHA:91387	LOX	4015	HP:0005162	Left ventricular failure
ORPHA:91387	LOX	4015	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	LOX	4015	HP:0012499	Descending aortic dissection
ORPHA:91387	LOX	4015	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	MYH11	4629	HP:0001677	Coronary artery disease
ORPHA:91387	MYH11	4629	HP:0000965	Cutis marmorata
ORPHA:91387	MYH11	4629	HP:0001640	Cardiomegaly
ORPHA:91387	MYH11	4629	HP:0004933	Ascending aortic dissection
ORPHA:91387	MYH11	4629	HP:0000525	Abnormality of the iris
ORPHA:91387	MYH11	4629	HP:0002875	Exertional dyspnea
ORPHA:91387	MYH11	4629	HP:0000822	Hypertension
ORPHA:91387	MYH11	4629	HP:0001659	Aortic regurgitation
ORPHA:91387	MYH11	4629	HP:0100749	Chest pain
ORPHA:91387	MYH11	4629	HP:0005162	Left ventricular failure
ORPHA:91387	MYH11	4629	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	MYH11	4629	HP:0012499	Descending aortic dissection
ORPHA:91387	MYH11	4629	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	ELN	2006	HP:0001677	Coronary artery disease
ORPHA:91387	ELN	2006	HP:0000965	Cutis marmorata
ORPHA:91387	ELN	2006	HP:0001640	Cardiomegaly
ORPHA:91387	ELN	2006	HP:0004933	Ascending aortic dissection
ORPHA:91387	ELN	2006	HP:0000525	Abnormality of the iris
ORPHA:91387	ELN	2006	HP:0002875	Exertional dyspnea
ORPHA:91387	ELN	2006	HP:0000822	Hypertension
ORPHA:91387	ELN	2006	HP:0001659	Aortic regurgitation
ORPHA:91387	ELN	2006	HP:0100749	Chest pain
ORPHA:91387	ELN	2006	HP:0005162	Left ventricular failure
ORPHA:91387	ELN	2006	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	ELN	2006	HP:0012499	Descending aortic dissection
ORPHA:91387	ELN	2006	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	FBN1	2200	HP:0001677	Coronary artery disease
ORPHA:91387	FBN1	2200	HP:0000965	Cutis marmorata
ORPHA:91387	FBN1	2200	HP:0001640	Cardiomegaly
ORPHA:91387	FBN1	2200	HP:0004933	Ascending aortic dissection
ORPHA:91387	FBN1	2200	HP:0000525	Abnormality of the iris
ORPHA:91387	FBN1	2200	HP:0002875	Exertional dyspnea
ORPHA:91387	FBN1	2200	HP:0000822	Hypertension
ORPHA:91387	FBN1	2200	HP:0001659	Aortic regurgitation
ORPHA:91387	FBN1	2200	HP:0100749	Chest pain
ORPHA:91387	FBN1	2200	HP:0005162	Left ventricular failure
ORPHA:91387	FBN1	2200	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	FBN1	2200	HP:0012499	Descending aortic dissection
ORPHA:91387	FBN1	2200	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	SMAD3	4088	HP:0001677	Coronary artery disease
ORPHA:91387	SMAD3	4088	HP:0000965	Cutis marmorata
ORPHA:91387	SMAD3	4088	HP:0001640	Cardiomegaly
ORPHA:91387	SMAD3	4088	HP:0004933	Ascending aortic dissection
ORPHA:91387	SMAD3	4088	HP:0000525	Abnormality of the iris
ORPHA:91387	SMAD3	4088	HP:0002875	Exertional dyspnea
ORPHA:91387	SMAD3	4088	HP:0000822	Hypertension
ORPHA:91387	SMAD3	4088	HP:0001659	Aortic regurgitation
ORPHA:91387	SMAD3	4088	HP:0100749	Chest pain
ORPHA:91387	SMAD3	4088	HP:0005162	Left ventricular failure
ORPHA:91387	SMAD3	4088	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	SMAD3	4088	HP:0012499	Descending aortic dissection
ORPHA:91387	SMAD3	4088	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	PRKG1	5592	HP:0001677	Coronary artery disease
ORPHA:91387	PRKG1	5592	HP:0000965	Cutis marmorata
ORPHA:91387	PRKG1	5592	HP:0001640	Cardiomegaly
ORPHA:91387	PRKG1	5592	HP:0004933	Ascending aortic dissection
ORPHA:91387	PRKG1	5592	HP:0000525	Abnormality of the iris
ORPHA:91387	PRKG1	5592	HP:0002875	Exertional dyspnea
ORPHA:91387	PRKG1	5592	HP:0000822	Hypertension
ORPHA:91387	PRKG1	5592	HP:0001659	Aortic regurgitation
ORPHA:91387	PRKG1	5592	HP:0100749	Chest pain
ORPHA:91387	PRKG1	5592	HP:0005162	Left ventricular failure
ORPHA:91387	PRKG1	5592	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	PRKG1	5592	HP:0012499	Descending aortic dissection
ORPHA:91387	PRKG1	5592	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	ACTA2	59	HP:0001677	Coronary artery disease
ORPHA:91387	ACTA2	59	HP:0000965	Cutis marmorata
ORPHA:91387	ACTA2	59	HP:0001640	Cardiomegaly
ORPHA:91387	ACTA2	59	HP:0004933	Ascending aortic dissection
ORPHA:91387	ACTA2	59	HP:0000525	Abnormality of the iris
ORPHA:91387	ACTA2	59	HP:0002875	Exertional dyspnea
ORPHA:91387	ACTA2	59	HP:0000822	Hypertension
ORPHA:91387	ACTA2	59	HP:0001659	Aortic regurgitation
ORPHA:91387	ACTA2	59	HP:0100749	Chest pain
ORPHA:91387	ACTA2	59	HP:0005162	Left ventricular failure
ORPHA:91387	ACTA2	59	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	ACTA2	59	HP:0012499	Descending aortic dissection
ORPHA:91387	ACTA2	59	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	FOXE3	2301	HP:0001677	Coronary artery disease
ORPHA:91387	FOXE3	2301	HP:0000965	Cutis marmorata
ORPHA:91387	FOXE3	2301	HP:0001640	Cardiomegaly
ORPHA:91387	FOXE3	2301	HP:0004933	Ascending aortic dissection
ORPHA:91387	FOXE3	2301	HP:0000525	Abnormality of the iris
ORPHA:91387	FOXE3	2301	HP:0002875	Exertional dyspnea
ORPHA:91387	FOXE3	2301	HP:0000822	Hypertension
ORPHA:91387	FOXE3	2301	HP:0001659	Aortic regurgitation
ORPHA:91387	FOXE3	2301	HP:0100749	Chest pain
ORPHA:91387	FOXE3	2301	HP:0005162	Left ventricular failure
ORPHA:91387	FOXE3	2301	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	FOXE3	2301	HP:0012499	Descending aortic dissection
ORPHA:91387	FOXE3	2301	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	MYLK	4638	HP:0001677	Coronary artery disease
ORPHA:91387	MYLK	4638	HP:0000965	Cutis marmorata
ORPHA:91387	MYLK	4638	HP:0001640	Cardiomegaly
ORPHA:91387	MYLK	4638	HP:0004933	Ascending aortic dissection
ORPHA:91387	MYLK	4638	HP:0000525	Abnormality of the iris
ORPHA:91387	MYLK	4638	HP:0002875	Exertional dyspnea
ORPHA:91387	MYLK	4638	HP:0000822	Hypertension
ORPHA:91387	MYLK	4638	HP:0001659	Aortic regurgitation
ORPHA:91387	MYLK	4638	HP:0100749	Chest pain
ORPHA:91387	MYLK	4638	HP:0005162	Left ventricular failure
ORPHA:91387	MYLK	4638	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	MYLK	4638	HP:0012499	Descending aortic dissection
ORPHA:91387	MYLK	4638	HP:0012763	Paroxysmal dyspnea
OMIM:182980	VAPB	9217	HP:0001265	Hyporeflexia
OMIM:182980	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:182980	VAPB	9217	HP:0003445	EMG: neuropathic changes
OMIM:182980	VAPB	9217	HP:0007269	Spinal muscular atrophy
OMIM:182980	VAPB	9217	HP:0003701	Proximal muscle weakness
OMIM:182980	VAPB	9217	HP:0002380	Fasciculations
OMIM:248360	MLYCD	23417	HP:0004322	Short stature
OMIM:248360	MLYCD	23417	HP:0012450	Chronic constipation
OMIM:248360	MLYCD	23417	HP:0001946	Ketosis
OMIM:248360	MLYCD	23417	HP:0001250	Seizures
OMIM:248360	MLYCD	23417	HP:0001942	Metabolic acidosis
OMIM:248360	MLYCD	23417	HP:0002014	Diarrhea
OMIM:248360	MLYCD	23417	HP:0001639	Hypertrophic cardiomyopathy
OMIM:248360	MLYCD	23417	HP:0001290	Generalized hypotonia
OMIM:248360	MLYCD	23417	HP:0001943	Hypoglycemia
OMIM:248360	MLYCD	23417	HP:0002013	Vomiting
OMIM:248360	MLYCD	23417	HP:0003128	Lactic acidosis
OMIM:248360	MLYCD	23417	HP:0002027	Abdominal pain
OMIM:248360	MLYCD	23417	HP:0000007	Autosomal recessive inheritance
OMIM:248360	MLYCD	23417	HP:0001263	Global developmental delay
OMIM:607475	RLBP1	6017	HP:0000608	Macular degeneration
OMIM:607475	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:607475	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:607475	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:607475	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613153	FKRP	79147	HP:0007957	Corneal opacity
OMIM:613153	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:613153	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613153	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:613153	FKRP	79147	HP:0001302	Pachygyria
OMIM:613153	FKRP	79147	HP:0000541	Retinal detachment
OMIM:613153	FKRP	79147	HP:0000545	Myopia
OMIM:613153	FKRP	79147	HP:0003819	Death in childhood
OMIM:613153	FKRP	79147	HP:0000518	Cataract
OMIM:613153	FKRP	79147	HP:0000568	Microphthalmia
OMIM:613153	FKRP	79147	HP:0002093	Respiratory insufficiency
OMIM:613153	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:613153	FKRP	79147	HP:0001270	Motor delay
OMIM:613153	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:613153	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613153	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:613153	FKRP	79147	HP:0003577	Congenital onset
OMIM:613153	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	FKRP	79147	HP:0001712	Left ventricular hypertrophy
OMIM:613153	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:613153	FKRP	79147	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	FKRP	79147	HP:0000589	Coloboma
OMIM:613153	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:613153	FKRP	79147	HP:0001265	Hyporeflexia
OMIM:613153	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:610359	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:610359	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:610359	SNRNP200	23020	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:610359	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:610359	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:107250	FOXE3	2301	HP:0000482	Microcornea
OMIM:107250	FOXE3	2301	HP:0007759	Opacification of the corneal stroma
OMIM:107250	FOXE3	2301	HP:0000006	Autosomal dominant inheritance
OMIM:107250	FOXE3	2301	HP:0000659	Peters anomaly
OMIM:107250	PITX3	5309	HP:0000482	Microcornea
OMIM:107250	PITX3	5309	HP:0007759	Opacification of the corneal stroma
OMIM:107250	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:107250	PITX3	5309	HP:0000659	Peters anomaly
OMIM:616395	GTF2H5	404672	HP:0045055	Tiger tail banding
OMIM:616395	GTF2H5	404672	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:616395	GTF2H5	404672	HP:0000518	Cataract
OMIM:616395	GTF2H5	404672	HP:0004322	Short stature
OMIM:616395	GTF2H5	404672	HP:0002099	Asthma
OMIM:616395	GTF2H5	404672	HP:0009473	Joint contracture of the hand
OMIM:616395	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:616395	GTF2H5	404672	HP:0000007	Autosomal recessive inheritance
OMIM:616395	GTF2H5	404672	HP:0001019	Erythroderma
OMIM:616395	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:616395	GTF2H5	404672	HP:0000144	Decreased fertility
OMIM:608612	ZMPSTE24	10269	HP:0000520	Proptosis
OMIM:608612	ZMPSTE24	10269	HP:0000905	Progressive clavicular acroosteolysis
OMIM:608612	ZMPSTE24	10269	HP:0009803	Short phalanx of finger
OMIM:608612	ZMPSTE24	10269	HP:0000464	Abnormality of the neck
OMIM:608612	ZMPSTE24	10269	HP:0000842	Hyperinsulinemia
OMIM:608612	ZMPSTE24	10269	HP:0000270	Delayed cranial suture closure
OMIM:608612	ZMPSTE24	10269	HP:0001371	Flexion contracture
OMIM:608612	ZMPSTE24	10269	HP:0001425	Heterogeneous
OMIM:608612	ZMPSTE24	10269	HP:0001870	Acroosteolysis of distal phalanges (feet)
OMIM:608612	ZMPSTE24	10269	HP:0001070	Mottled pigmentation
OMIM:608612	ZMPSTE24	10269	HP:0004334	Dermal atrophy
OMIM:608612	ZMPSTE24	10269	HP:0000347	Micrognathia
OMIM:608612	ZMPSTE24	10269	HP:0000678	Dental crowding
OMIM:608612	ZMPSTE24	10269	HP:0000833	Glucose intolerance
OMIM:608612	ZMPSTE24	10269	HP:0000894	Short clavicles
OMIM:608612	ZMPSTE24	10269	HP:0000292	Loss of facial adipose tissue
OMIM:608612	ZMPSTE24	10269	HP:0000007	Autosomal recessive inheritance
OMIM:608612	ZMPSTE24	10269	HP:0006480	Premature loss of teeth
OMIM:608612	ZMPSTE24	10269	HP:0008070	Sparse hair
OMIM:608612	ZMPSTE24	10269	HP:0002299	Brittle hair
OMIM:608612	ZMPSTE24	10269	HP:0000320	Bird-like facies
OMIM:608612	ZMPSTE24	10269	HP:0003077	Hyperlipidemia
OMIM:608612	ZMPSTE24	10269	HP:0000685	Hypoplasia of teeth
OMIM:608612	ZMPSTE24	10269	HP:0000160	Narrow mouth
OMIM:608612	ZMPSTE24	10269	HP:0009002	Loss of truncal subcutaneous adipose tissue
OMIM:608612	ZMPSTE24	10269	HP:0003074	Hyperglycemia
OMIM:608612	ZMPSTE24	10269	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:608612	ZMPSTE24	10269	HP:0009064	Generalized lipodystrophy
OMIM:608612	ZMPSTE24	10269	HP:0009839	Osteolytic defects of the distal phalanges of the hand
OMIM:608612	ZMPSTE24	10269	HP:0005995	Decreased adipose tissue around neck
OMIM:608612	ZMPSTE24	10269	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:608612	ZMPSTE24	10269	HP:0000418	Narrow nasal ridge
OMIM:608612	ZMPSTE24	10269	HP:0002645	Wormian bones
OMIM:608612	ZMPSTE24	10269	HP:0000218	High palate
OMIM:615065	ECEL1	9427	HP:0000007	Autosomal recessive inheritance
OMIM:615065	ECEL1	9427	HP:0003199	Decreased muscle mass
OMIM:615065	ECEL1	9427	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615065	ECEL1	9427	HP:0000470	Short neck
OMIM:615065	ECEL1	9427	HP:0002987	Elbow flexion contracture
OMIM:615065	ECEL1	9427	HP:0000221	Furrowed tongue
OMIM:615065	ECEL1	9427	HP:0001181	Adducted thumb
OMIM:615065	ECEL1	9427	HP:0012385	Camptodactyly
OMIM:615065	ECEL1	9427	HP:0004322	Short stature
OMIM:615065	ECEL1	9427	HP:0000347	Micrognathia
OMIM:615065	ECEL1	9427	HP:0000311	Round face
OMIM:615065	ECEL1	9427	HP:0002553	Highly arched eyebrow
OMIM:615065	ECEL1	9427	HP:0000414	Bulbous nose
OMIM:615065	ECEL1	9427	HP:0000463	Anteverted nares
OMIM:616151	IMPG1	3617	HP:0007754	Macular dystrophy
OMIM:616151	IMPG1	3617	HP:0007663	Reduced visual acuity
OMIM:616151	IMPG1	3617	HP:0000006	Autosomal dominant inheritance
OMIM:616151	IMPG1	3617	HP:0030515	Moderate visual impairment
OMIM:616151	IMPG1	3617	HP:0007677	Vitelliform-like macular lesions
OMIM:191900	NLRP3	114548	HP:0002829	Arthralgia
OMIM:191900	NLRP3	114548	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:191900	NLRP3	114548	HP:0000509	Conjunctivitis
OMIM:191900	NLRP3	114548	HP:0003326	Myalgia
OMIM:191900	NLRP3	114548	HP:0001917	Renal amyloidosis
OMIM:191900	NLRP3	114548	HP:0000083	Renal insufficiency
OMIM:191900	NLRP3	114548	HP:0000951	Abnormality of the skin
OMIM:191900	NLRP3	114548	HP:0000006	Autosomal dominant inheritance
OMIM:191900	NLRP3	114548	HP:0003593	Infantile onset
OMIM:191900	NLRP3	114548	HP:0000365	Hearing impairment
OMIM:191900	NLRP3	114548	HP:0000408	Progressive sensorineural hearing impairment
OMIM:191900	NLRP3	114548	HP:0001954	Episodic fever
OMIM:191900	NLRP3	114548	HP:0011107	Recurrent aphthous stomatitis
OMIM:191900	NLRP3	114548	HP:0001974	Leukocytosis
OMIM:612736	GAMT	2593	HP:0001251	Ataxia
OMIM:612736	GAMT	2593	HP:0001250	Seizures
OMIM:612736	GAMT	2593	HP:0000007	Autosomal recessive inheritance
OMIM:612736	GAMT	2593	HP:0001347	Hyperreflexia
OMIM:612736	GAMT	2593	HP:0001276	Hypertonia
OMIM:612736	GAMT	2593	HP:0001336	Myoclonus
OMIM:612736	GAMT	2593	HP:0001263	Global developmental delay
OMIM:612736	GAMT	2593	HP:0001249	Intellectual disability
OMIM:612736	GAMT	2593	HP:0007153	Progressive extrapyramidal movement disorder
OMIM:612736	GAMT	2593	HP:0008947	Infantile muscular hypotonia
OMIM:612736	GAMT	2593	HP:0000750	Delayed speech and language development
OMIM:615059	SNRPE	6635	HP:0000006	Autosomal dominant inheritance
OMIM:615059	SNRPE	6635	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	SNRPE	6635	HP:0001006	Hypotrichosis
OMIM:615059	SNRPE	6635	HP:0002221	Absent axillary hair
OMIM:615059	SNRPE	6635	HP:0200102	Sparse or absent eyelashes
OMIM:615728	KRT6B	3854	HP:0012035	Steatocystoma multiplex
OMIM:615728	KRT6B	3854	HP:0008404	Nail dystrophy
OMIM:615728	KRT6B	3854	HP:0000982	Palmoplantar keratoderma
OMIM:615728	KRT6B	3854	HP:0000006	Autosomal dominant inheritance
OMIM:249900	PSAP	5660	HP:0003487	Babinski sign
OMIM:249900	PSAP	5660	HP:0003828	Variable expressivity
OMIM:249900	PSAP	5660	HP:0011096	Peripheral demyelination
OMIM:249900	PSAP	5660	HP:0000762	Decreased nerve conduction velocity
OMIM:249900	PSAP	5660	HP:0001265	Hyporeflexia
OMIM:249900	PSAP	5660	HP:0001260	Dysarthria
OMIM:249900	PSAP	5660	HP:0001324	Muscle weakness
OMIM:249900	PSAP	5660	HP:0002371	Loss of speech
OMIM:249900	PSAP	5660	HP:0001263	Global developmental delay
OMIM:249900	PSAP	5660	HP:0002066	Gait ataxia
OMIM:249900	PSAP	5660	HP:0001271	Polyneuropathy
OMIM:249900	PSAP	5660	HP:0002376	Developmental regression
OMIM:249900	PSAP	5660	HP:0001250	Seizures
OMIM:249900	PSAP	5660	HP:0001285	Spastic tetraparesis
OMIM:249900	PSAP	5660	HP:0000020	Urinary incontinence
OMIM:249900	PSAP	5660	HP:0001268	Mental deterioration
OMIM:249900	PSAP	5660	HP:0002518	Abnormality of the periventricular white matter
OMIM:249900	PSAP	5660	HP:0002015	Dysphagia
OMIM:249900	PSAP	5660	HP:0001290	Generalized hypotonia
OMIM:249900	PSAP	5660	HP:0007305	CNS demyelination
OMIM:249900	PSAP	5660	HP:0001347	Hyperreflexia
OMIM:249900	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:604772	RYR2	6262	HP:0000006	Autosomal dominant inheritance
OMIM:604772	RYR2	6262	HP:0001250	Seizures
OMIM:604772	RYR2	6262	HP:0001699	Sudden death
OMIM:604772	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:604772	RYR2	6262	HP:0001279	Syncope
OMIM:604772	TRDN	10345	HP:0000006	Autosomal dominant inheritance
OMIM:604772	TRDN	10345	HP:0001250	Seizures
OMIM:604772	TRDN	10345	HP:0001699	Sudden death
OMIM:604772	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:604772	TRDN	10345	HP:0001279	Syncope
OMIM:604772	CASQ2	845	HP:0000006	Autosomal dominant inheritance
OMIM:604772	CASQ2	845	HP:0001250	Seizures
OMIM:604772	CASQ2	845	HP:0001699	Sudden death
OMIM:604772	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:604772	CASQ2	845	HP:0001279	Syncope
OMIM:614863	PEX6	5190	HP:0000505	Visual impairment
OMIM:614863	PEX6	5190	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614863	PEX6	5190	HP:0001251	Ataxia
OMIM:614863	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614863	PEX6	5190	HP:0000316	Hypertelorism
OMIM:614863	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX6	5190	HP:0000762	Decreased nerve conduction velocity
OMIM:614863	PEX6	5190	HP:0001249	Intellectual disability
OMIM:614863	PEX6	5190	HP:0001250	Seizures
OMIM:614863	PEX6	5190	HP:0000070	Ureterocele
OMIM:614863	PEX6	5190	HP:0003196	Short nose
OMIM:614863	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX6	5190	HP:0000648	Optic atrophy
OMIM:614863	PEX6	5190	HP:0001290	Generalized hypotonia
OMIM:614863	PEX6	5190	HP:0000256	Macrocephaly
OMIM:614863	PEX6	5190	HP:0000954	Single transverse palmar crease
OMIM:614863	PEX6	5190	HP:0000639	Nystagmus
OMIM:617027	CACNA1H	8912	HP:0000006	Autosomal dominant inheritance
OMIM:617027	CACNA1H	8912	HP:0000822	Hypertension
OMIM:310468	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:310468	CLCN5	1184	HP:0003126	Low-molecular-weight proteinuria
OMIM:310468	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:310468	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:310468	CLCN5	1184	HP:0005576	Tubulointerstitial fibrosis
OMIM:310468	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:310468	CLCN5	1184	HP:0000092	Tubular atrophy
OMIM:310468	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:310468	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:310468	CLCN5	1184	HP:0002907	Microscopic hematuria
OMIM:310468	CLCN5	1184	HP:0000096	Glomerulosclerosis
OMIM:310468	CLCN5	1184	HP:0000114	Proximal tubulopathy
ORPHA:2148	DCX	1641	HP:0011968	Feeding difficulties
ORPHA:2148	DCX	1641	HP:0001250	Seizures
ORPHA:2148	DCX	1641	HP:0001252	Muscular hypotonia
ORPHA:2148	DCX	1641	HP:0010864	Intellectual disability, severe
ORPHA:2148	DCX	1641	HP:0001276	Hypertonia
ORPHA:309108	PNLIP	5406	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:309108	PNLIP	5406	HP:0002028	Chronic diarrhea
ORPHA:309108	PNLIP	5406	HP:0001889	Megaloblastic anemia
ORPHA:309108	PNLIP	5406	HP:0002570	Steatorrhea
OMIM:606445	CARD11	84433	HP:0002240	Hepatomegaly
OMIM:606445	CARD11	84433	HP:0002850	IgM deficiency
OMIM:606445	CARD11	84433	HP:0001744	Splenomegaly
OMIM:606445	CARD11	84433	HP:0002719	Recurrent infections
OMIM:606445	CARD11	84433	HP:0000006	Autosomal dominant inheritance
OMIM:612067	PRKRA	8575	HP:0002015	Dysphagia
OMIM:612067	PRKRA	8575	HP:0001347	Hyperreflexia
OMIM:612067	PRKRA	8575	HP:0000750	Delayed speech and language development
OMIM:612067	PRKRA	8575	HP:0001300	Parkinsonism
OMIM:612067	PRKRA	8575	HP:0002451	Limb dystonia
OMIM:612067	PRKRA	8575	HP:0001270	Motor delay
OMIM:612067	PRKRA	8575	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:612067	PRKRA	8575	HP:0002174	Postural tremor
OMIM:612067	PRKRA	8575	HP:0001288	Gait disturbance
OMIM:612067	PRKRA	8575	HP:0003676	Progressive
OMIM:612067	PRKRA	8575	HP:0012514	Lower limb pain
OMIM:612067	PRKRA	8575	HP:0000007	Autosomal recessive inheritance
OMIM:612067	PRKRA	8575	HP:0002544	Retrocollis
OMIM:612067	PRKRA	8575	HP:0002067	Bradykinesia
OMIM:612067	PRKRA	8575	HP:0001260	Dysarthria
OMIM:612067	PRKRA	8575	HP:0007256	Abnormal pyramidal signs
OMIM:612067	PRKRA	8575	HP:0012049	Laryngeal dystonia
ORPHA:35	PCCA	5095	HP:0010978	Abnormality of immune system physiology
ORPHA:35	PCCA	5095	HP:0001249	Intellectual disability
ORPHA:35	PCCA	5095	HP:0001987	Hyperammonemia
ORPHA:35	PCCA	5095	HP:0001263	Global developmental delay
ORPHA:35	PCCA	5095	HP:0011675	Arrhythmia
ORPHA:35	PCCA	5095	HP:0003353	Propionyl-CoA carboxylase deficiency
ORPHA:35	PCCA	5095	HP:0001992	Organic aciduria
ORPHA:35	PCCA	5095	HP:0002019	Constipation
ORPHA:35	PCCA	5095	HP:0001943	Hypoglycemia
ORPHA:35	PCCA	5095	HP:0002240	Hepatomegaly
ORPHA:35	PCCB	5096	HP:0010978	Abnormality of immune system physiology
ORPHA:35	PCCB	5096	HP:0001249	Intellectual disability
ORPHA:35	PCCB	5096	HP:0001987	Hyperammonemia
ORPHA:35	PCCB	5096	HP:0001263	Global developmental delay
ORPHA:35	PCCB	5096	HP:0011675	Arrhythmia
ORPHA:35	PCCB	5096	HP:0003353	Propionyl-CoA carboxylase deficiency
ORPHA:35	PCCB	5096	HP:0001992	Organic aciduria
ORPHA:35	PCCB	5096	HP:0002019	Constipation
ORPHA:35	PCCB	5096	HP:0001943	Hypoglycemia
ORPHA:35	PCCB	5096	HP:0002240	Hepatomegaly
OMIM:608232	BCR	613	HP:0004848	Ph-positive acute lymphoblastic leukemia
OMIM:608232	BCR	613	HP:0005506	Chronic myelogenous leukemia
OMIM:608232	BCR	613	HP:0001428	Somatic mutation
OMIM:116300	VIM	7431	HP:0010693	Pulverulent cataract
OMIM:116300	VIM	7431	HP:0000006	Autosomal dominant inheritance
OMIM:116300	VIM	7431	HP:0001115	Posterior polar cataract
OMIM:116300	VIM	7431	HP:0007657	Diffuse nuclear cataract
OMIM:116300	VIM	7431	HP:0003577	Congenital onset
OMIM:601780	CLN6	54982	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
OMIM:601780	CLN6	54982	HP:0000007	Autosomal recessive inheritance
OMIM:601780	CLN6	54982	HP:0000529	Progressive visual loss
OMIM:601780	CLN6	54982	HP:0001311	Abnormal nervous system electrophysiology
OMIM:601780	CLN6	54982	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:601780	CLN6	54982	HP:0002333	Motor deterioration
OMIM:601780	CLN6	54982	HP:0001250	Seizures
OMIM:601780	CLN6	54982	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:601780	CLN6	54982	HP:0000546	Retinal degeneration
ORPHA:2879	WNT7A	7476	HP:0002164	Nail dysplasia
ORPHA:2879	WNT7A	7476	HP:0009103	Aplasia/Hypoplasia involving the pelvis
ORPHA:2879	WNT7A	7476	HP:0008517	Aplasia/Hypoplasia of the sacrum
ORPHA:2879	WNT7A	7476	HP:0003982	Aplasia of the ulna
ORPHA:2879	WNT7A	7476	HP:0000151	Aplasia of the uterus
ORPHA:2879	WNT7A	7476	HP:0001849	Foot oligodactyly
ORPHA:2879	WNT7A	7476	HP:0001511	Intrauterine growth retardation
ORPHA:2879	WNT7A	7476	HP:0000470	Short neck
ORPHA:2879	WNT7A	7476	HP:0001180	Hand oligodactyly
ORPHA:2879	WNT7A	7476	HP:0002983	Micromelia
ORPHA:2879	WNT7A	7476	HP:0000347	Micrognathia
ORPHA:2879	WNT7A	7476	HP:0002986	Radial bowing
ORPHA:2879	WNT7A	7476	HP:0002992	Abnormality of tibia morphology
ORPHA:2879	WNT7A	7476	HP:0003498	Disproportionate short stature
ORPHA:2879	WNT7A	7476	HP:0100257	Ectrodactyly
ORPHA:2879	WNT7A	7476	HP:0002990	Fibular aplasia
ORPHA:2879	WNT7A	7476	HP:0002984	Hypoplasia of the radius
OMIM:135300	SOS1	6654	HP:0000169	Gingival fibromatosis
OMIM:135300	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:300048	FLNA	2316	HP:0003593	Infantile onset
OMIM:300048	FLNA	2316	HP:0000316	Hypertelorism
OMIM:300048	FLNA	2316	HP:0000369	Low-set ears
OMIM:300048	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:300048	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:300048	FLNA	2316	HP:0000319	Smooth philtrum
OMIM:300048	FLNA	2316	HP:0003270	Abdominal distention
OMIM:300048	FLNA	2316	HP:0002013	Vomiting
OMIM:300048	FLNA	2316	HP:0001643	Patent ductus arteriosus
OMIM:300048	FLNA	2316	HP:0002566	Intestinal malrotation
OMIM:300048	FLNA	2316	HP:0001999	Abnormal facial shape
OMIM:300048	FLNA	2316	HP:0011877	Increased mean platelet volume
OMIM:300048	FLNA	2316	HP:0001873	Thrombocytopenia
OMIM:300048	FLNA	2316	HP:0040309	Increased size of the mandible
OMIM:300048	FLNA	2316	HP:0004389	Intestinal pseudo-obstruction
OMIM:300048	FLNA	2316	HP:0008872	Feeding difficulties in infancy
ORPHA:13	PTS	5805	HP:0001252	Muscular hypotonia
ORPHA:13	PTS	5805	HP:0002179	Opisthotonus
ORPHA:33	IVD	3712	HP:0001250	Seizures
ORPHA:33	IVD	3712	HP:0001263	Global developmental delay
ORPHA:33	IVD	3712	HP:0001942	Metabolic acidosis
OMIM:248450	FREM1	158326	HP:0000007	Autosomal recessive inheritance
OMIM:248450	FREM1	158326	HP:0000528	Anophthalmia
OMIM:248450	FREM1	158326	HP:0000579	Nasolacrimal duct obstruction
OMIM:248450	FREM1	158326	HP:0002025	Anal stenosis
OMIM:248450	FREM1	158326	HP:0000316	Hypertelorism
OMIM:248450	FREM1	158326	HP:0001545	Anteriorly placed anus
OMIM:248450	FREM1	158326	HP:0000625	Cleft eyelid
OMIM:248450	FREM1	158326	HP:0001595	Abnormality of the hair
OMIM:248450	FREM1	158326	HP:0000568	Microphthalmia
OMIM:248450	FREM1	158326	HP:0001539	Omphalocele
ORPHA:2616	CCDC8	83987	HP:0000414	Bulbous nose
ORPHA:2616	CCDC8	83987	HP:0004570	Increased vertebral height
ORPHA:2616	CCDC8	83987	HP:0000574	Thick eyebrow
ORPHA:2616	CCDC8	83987	HP:0000343	Long philtrum
ORPHA:2616	CCDC8	83987	HP:0002983	Micromelia
ORPHA:2616	CCDC8	83987	HP:0000888	Horizontal ribs
ORPHA:2616	CCDC8	83987	HP:0002750	Delayed skeletal maturation
ORPHA:2616	CCDC8	83987	HP:0003173	Hypoplastic pubic bone
ORPHA:2616	CCDC8	83987	HP:0005692	Joint hyperflexibility
ORPHA:2616	CCDC8	83987	HP:0100625	Enlarged thorax
ORPHA:2616	CCDC8	83987	HP:0000883	Thin ribs
ORPHA:2616	CCDC8	83987	HP:0011800	Midface retrusion
ORPHA:2616	CCDC8	83987	HP:0001838	Rocker bottom foot
ORPHA:2616	CCDC8	83987	HP:0003175	Hypoplastic ischia
ORPHA:2616	CCDC8	83987	HP:0008839	Hypoplastic pelvis
ORPHA:2616	CCDC8	83987	HP:0000682	Abnormality of dental enamel
ORPHA:2616	CCDC8	83987	HP:0009811	Abnormality of the elbow
ORPHA:2616	CCDC8	83987	HP:0010306	Short thorax
ORPHA:2616	CCDC8	83987	HP:0000463	Anteverted nares
ORPHA:2616	CCDC8	83987	HP:0000944	Abnormality of the metaphysis
ORPHA:2616	CCDC8	83987	HP:0003022	Hypoplasia of the ulna
ORPHA:2616	CCDC8	83987	HP:0003691	Scapular winging
ORPHA:2616	CCDC8	83987	HP:0000337	Broad forehead
ORPHA:2616	CCDC8	83987	HP:0003307	Hyperlordosis
ORPHA:2616	CCDC8	83987	HP:0000307	Pointed chin
ORPHA:2616	CCDC8	83987	HP:0004322	Short stature
ORPHA:2616	CCDC8	83987	HP:0000232	Everted lower lip vermilion
ORPHA:2616	CCDC8	83987	HP:0000411	Protruding ear
ORPHA:2616	CCDC8	83987	HP:0002007	Frontal bossing
ORPHA:2616	CCDC8	83987	HP:0001511	Intrauterine growth retardation
ORPHA:2616	CCDC8	83987	HP:0000470	Short neck
ORPHA:2616	CCDC8	83987	HP:0003100	Slender long bone
ORPHA:2616	CCDC8	83987	HP:0000268	Dolichocephaly
ORPHA:2616	CCDC8	83987	HP:0000325	Triangular face
ORPHA:2616	CCDC8	83987	HP:0000684	Delayed eruption of teeth
ORPHA:2616	OBSL1	23363	HP:0000414	Bulbous nose
ORPHA:2616	OBSL1	23363	HP:0004570	Increased vertebral height
ORPHA:2616	OBSL1	23363	HP:0000574	Thick eyebrow
ORPHA:2616	OBSL1	23363	HP:0000343	Long philtrum
ORPHA:2616	OBSL1	23363	HP:0002983	Micromelia
ORPHA:2616	OBSL1	23363	HP:0000888	Horizontal ribs
ORPHA:2616	OBSL1	23363	HP:0002750	Delayed skeletal maturation
ORPHA:2616	OBSL1	23363	HP:0003173	Hypoplastic pubic bone
ORPHA:2616	OBSL1	23363	HP:0005692	Joint hyperflexibility
ORPHA:2616	OBSL1	23363	HP:0100625	Enlarged thorax
ORPHA:2616	OBSL1	23363	HP:0000883	Thin ribs
ORPHA:2616	OBSL1	23363	HP:0011800	Midface retrusion
ORPHA:2616	OBSL1	23363	HP:0001838	Rocker bottom foot
ORPHA:2616	OBSL1	23363	HP:0003175	Hypoplastic ischia
ORPHA:2616	OBSL1	23363	HP:0008839	Hypoplastic pelvis
ORPHA:2616	OBSL1	23363	HP:0000682	Abnormality of dental enamel
ORPHA:2616	OBSL1	23363	HP:0009811	Abnormality of the elbow
ORPHA:2616	OBSL1	23363	HP:0010306	Short thorax
ORPHA:2616	OBSL1	23363	HP:0000463	Anteverted nares
ORPHA:2616	OBSL1	23363	HP:0000944	Abnormality of the metaphysis
ORPHA:2616	OBSL1	23363	HP:0003022	Hypoplasia of the ulna
ORPHA:2616	OBSL1	23363	HP:0003691	Scapular winging
ORPHA:2616	OBSL1	23363	HP:0000337	Broad forehead
ORPHA:2616	OBSL1	23363	HP:0003307	Hyperlordosis
ORPHA:2616	OBSL1	23363	HP:0000307	Pointed chin
ORPHA:2616	OBSL1	23363	HP:0004322	Short stature
ORPHA:2616	OBSL1	23363	HP:0000232	Everted lower lip vermilion
ORPHA:2616	OBSL1	23363	HP:0000411	Protruding ear
ORPHA:2616	OBSL1	23363	HP:0002007	Frontal bossing
ORPHA:2616	OBSL1	23363	HP:0001511	Intrauterine growth retardation
ORPHA:2616	OBSL1	23363	HP:0000470	Short neck
ORPHA:2616	OBSL1	23363	HP:0003100	Slender long bone
ORPHA:2616	OBSL1	23363	HP:0000268	Dolichocephaly
ORPHA:2616	OBSL1	23363	HP:0000325	Triangular face
ORPHA:2616	OBSL1	23363	HP:0000684	Delayed eruption of teeth
ORPHA:2616	CUL7	9820	HP:0000414	Bulbous nose
ORPHA:2616	CUL7	9820	HP:0004570	Increased vertebral height
ORPHA:2616	CUL7	9820	HP:0000574	Thick eyebrow
ORPHA:2616	CUL7	9820	HP:0000343	Long philtrum
ORPHA:2616	CUL7	9820	HP:0002983	Micromelia
ORPHA:2616	CUL7	9820	HP:0000888	Horizontal ribs
ORPHA:2616	CUL7	9820	HP:0002750	Delayed skeletal maturation
ORPHA:2616	CUL7	9820	HP:0003173	Hypoplastic pubic bone
ORPHA:2616	CUL7	9820	HP:0005692	Joint hyperflexibility
ORPHA:2616	CUL7	9820	HP:0100625	Enlarged thorax
ORPHA:2616	CUL7	9820	HP:0000883	Thin ribs
ORPHA:2616	CUL7	9820	HP:0011800	Midface retrusion
ORPHA:2616	CUL7	9820	HP:0001838	Rocker bottom foot
ORPHA:2616	CUL7	9820	HP:0003175	Hypoplastic ischia
ORPHA:2616	CUL7	9820	HP:0008839	Hypoplastic pelvis
ORPHA:2616	CUL7	9820	HP:0000682	Abnormality of dental enamel
ORPHA:2616	CUL7	9820	HP:0009811	Abnormality of the elbow
ORPHA:2616	CUL7	9820	HP:0010306	Short thorax
ORPHA:2616	CUL7	9820	HP:0000463	Anteverted nares
ORPHA:2616	CUL7	9820	HP:0000944	Abnormality of the metaphysis
ORPHA:2616	CUL7	9820	HP:0003022	Hypoplasia of the ulna
ORPHA:2616	CUL7	9820	HP:0003691	Scapular winging
ORPHA:2616	CUL7	9820	HP:0000337	Broad forehead
ORPHA:2616	CUL7	9820	HP:0003307	Hyperlordosis
ORPHA:2616	CUL7	9820	HP:0000307	Pointed chin
ORPHA:2616	CUL7	9820	HP:0004322	Short stature
ORPHA:2616	CUL7	9820	HP:0000232	Everted lower lip vermilion
ORPHA:2616	CUL7	9820	HP:0000411	Protruding ear
ORPHA:2616	CUL7	9820	HP:0002007	Frontal bossing
ORPHA:2616	CUL7	9820	HP:0001511	Intrauterine growth retardation
ORPHA:2616	CUL7	9820	HP:0000470	Short neck
ORPHA:2616	CUL7	9820	HP:0003100	Slender long bone
ORPHA:2616	CUL7	9820	HP:0000268	Dolichocephaly
ORPHA:2616	CUL7	9820	HP:0000325	Triangular face
ORPHA:2616	CUL7	9820	HP:0000684	Delayed eruption of teeth
OMIM:609220	PLOD2	5352	HP:0000023	Inguinal hernia
OMIM:609220	PLOD2	5352	HP:0002980	Femoral bowing
OMIM:609220	PLOD2	5352	HP:0002987	Elbow flexion contracture
OMIM:609220	PLOD2	5352	HP:0000007	Autosomal recessive inheritance
OMIM:609220	PLOD2	5352	HP:0000926	Platyspondyly
OMIM:609220	PLOD2	5352	HP:0000938	Osteopenia
OMIM:609220	PLOD2	5352	HP:0002645	Wormian bones
OMIM:609220	PLOD2	5352	HP:0004322	Short stature
OMIM:609220	PLOD2	5352	HP:0002659	Increased susceptibility to fractures
OMIM:609220	PLOD2	5352	HP:0001371	Flexion contracture
OMIM:609220	PLOD2	5352	HP:0006380	Knee flexion contracture
OMIM:609220	PLOD2	5352	HP:0001762	Talipes equinovarus
OMIM:609220	PLOD2	5352	HP:0000768	Pectus carinatum
OMIM:609220	PLOD2	5352	HP:0001059	Pterygium
OMIM:609220	PLOD2	5352	HP:0003080	Hydroxyprolinuria
ORPHA:98791	HBA2	3040	HP:0000337	Broad forehead
ORPHA:98791	HBA2	3040	HP:0012378	Fatigue
ORPHA:98791	HBA2	3040	HP:0000252	Microcephaly
ORPHA:98791	HBA2	3040	HP:0001831	Short toe
ORPHA:98791	HBA2	3040	HP:0000316	Hypertelorism
ORPHA:98791	HBA2	3040	HP:0002167	Neurological speech impairment
ORPHA:98791	HBA2	3040	HP:0001252	Muscular hypotonia
ORPHA:98791	HBA2	3040	HP:0000470	Short neck
ORPHA:98791	HBA2	3040	HP:0000978	Bruising susceptibility
ORPHA:98791	HBA2	3040	HP:0000218	High palate
ORPHA:98791	HBA2	3040	HP:0000348	High forehead
ORPHA:98791	HBA2	3040	HP:0000768	Pectus carinatum
ORPHA:98791	HBA2	3040	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:98791	HBA2	3040	HP:0001762	Talipes equinovarus
ORPHA:98791	HBA2	3040	HP:0000028	Cryptorchidism
ORPHA:98791	HBA2	3040	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:98791	HBA2	3040	HP:0000272	Malar flattening
ORPHA:98791	HBA2	3040	HP:0000431	Wide nasal bridge
ORPHA:98791	HBA2	3040	HP:0001249	Intellectual disability
ORPHA:98791	HBA2	3040	HP:0001508	Failure to thrive
ORPHA:98791	HBA2	3040	HP:0000347	Micrognathia
ORPHA:98791	HBA2	3040	HP:0011903	Hemoglobin H
ORPHA:98791	HBA2	3040	HP:0004322	Short stature
ORPHA:98791	HBA2	3040	HP:0000278	Retrognathia
ORPHA:98791	HBA2	3040	HP:0001935	Microcytic anemia
ORPHA:98791	HBA2	3040	HP:0000286	Epicanthus
ORPHA:98791	HBA2	3040	HP:0000494	Downslanted palpebral fissures
ORPHA:98791	HBA1	3039	HP:0000337	Broad forehead
ORPHA:98791	HBA1	3039	HP:0012378	Fatigue
ORPHA:98791	HBA1	3039	HP:0000252	Microcephaly
ORPHA:98791	HBA1	3039	HP:0001831	Short toe
ORPHA:98791	HBA1	3039	HP:0000316	Hypertelorism
ORPHA:98791	HBA1	3039	HP:0002167	Neurological speech impairment
ORPHA:98791	HBA1	3039	HP:0001252	Muscular hypotonia
ORPHA:98791	HBA1	3039	HP:0000470	Short neck
ORPHA:98791	HBA1	3039	HP:0000978	Bruising susceptibility
ORPHA:98791	HBA1	3039	HP:0000218	High palate
ORPHA:98791	HBA1	3039	HP:0000348	High forehead
ORPHA:98791	HBA1	3039	HP:0000768	Pectus carinatum
ORPHA:98791	HBA1	3039	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:98791	HBA1	3039	HP:0001762	Talipes equinovarus
ORPHA:98791	HBA1	3039	HP:0000028	Cryptorchidism
ORPHA:98791	HBA1	3039	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:98791	HBA1	3039	HP:0000272	Malar flattening
ORPHA:98791	HBA1	3039	HP:0000431	Wide nasal bridge
ORPHA:98791	HBA1	3039	HP:0001249	Intellectual disability
ORPHA:98791	HBA1	3039	HP:0001508	Failure to thrive
ORPHA:98791	HBA1	3039	HP:0000347	Micrognathia
ORPHA:98791	HBA1	3039	HP:0011903	Hemoglobin H
ORPHA:98791	HBA1	3039	HP:0004322	Short stature
ORPHA:98791	HBA1	3039	HP:0000278	Retrognathia
ORPHA:98791	HBA1	3039	HP:0001935	Microcytic anemia
ORPHA:98791	HBA1	3039	HP:0000286	Epicanthus
ORPHA:98791	HBA1	3039	HP:0000494	Downslanted palpebral fissures
OMIM:253310	GLE1	2733	HP:0000765	Abnormality of the thorax
OMIM:253310	GLE1	2733	HP:0000347	Micrognathia
OMIM:253310	GLE1	2733	HP:0007277	Paucity of anterior horn motor neurons
OMIM:253310	GLE1	2733	HP:0004571	Widening of cervical spinal canal
OMIM:253310	GLE1	2733	HP:0003811	Neonatal death
OMIM:253310	GLE1	2733	HP:0000007	Autosomal recessive inheritance
OMIM:253310	GLE1	2733	HP:0001560	Abnormality of the amniotic fluid
OMIM:253310	GLE1	2733	HP:0000969	Edema
OMIM:253310	GLE1	2733	HP:0002089	Pulmonary hypoplasia
OMIM:253310	GLE1	2733	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253310	GLE1	2733	HP:0003202	Skeletal muscle atrophy
OMIM:253310	GLE1	2733	HP:0009004	Hypoplasia of the musculature
OMIM:616326	RAPSN	5913	HP:0003388	Easy fatigability
OMIM:616326	RAPSN	5913	HP:0001319	Neonatal hypotonia
OMIM:616326	RAPSN	5913	HP:0000276	Long face
OMIM:616326	RAPSN	5913	HP:0000508	Ptosis
OMIM:616326	RAPSN	5913	HP:0001558	Decreased fetal movement
OMIM:616326	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616326	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616326	RAPSN	5913	HP:0000218	High palate
OMIM:616326	RAPSN	5913	HP:0003391	Gowers sign
OMIM:616326	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616326	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:616326	RAPSN	5913	HP:0003577	Congenital onset
OMIM:610508	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:610508	KLF11	8462	HP:0004904	Maturity-onset diabetes of the young
OMIM:610508	KLF11	8462	HP:0005978	Type II diabetes mellitus
ORPHA:2792	PAX1	5075	HP:0000411	Protruding ear
ORPHA:2792	PAX1	5075	HP:0001276	Hypertonia
ORPHA:2792	PAX1	5075	HP:0000400	Macrotia
ORPHA:2792	PAX1	5075	HP:0005280	Depressed nasal bridge
ORPHA:2792	PAX1	5075	HP:0200021	Down-sloping shoulders
ORPHA:2792	PAX1	5075	HP:0000293	Full cheeks
ORPHA:2792	PAX1	5075	HP:0000889	Abnormality of the clavicle
ORPHA:2792	PAX1	5075	HP:0001263	Global developmental delay
ORPHA:2792	PAX1	5075	HP:0001347	Hyperreflexia
ORPHA:2792	PAX1	5075	HP:0000405	Conductive hearing impairment
ORPHA:2792	PAX1	5075	HP:0002167	Neurological speech impairment
ORPHA:2792	PAX1	5075	HP:0004322	Short stature
ORPHA:2792	PAX1	5075	HP:0000218	High palate
ORPHA:2792	PAX1	5075	HP:0002750	Delayed skeletal maturation
ORPHA:2792	PAX1	5075	HP:0009738	Abnormality of the antihelix
ORPHA:2792	PAX1	5075	HP:0000463	Anteverted nares
ORPHA:2792	PAX1	5075	HP:0004467	Preauricular pit
ORPHA:2792	PAX1	5075	HP:0007477	Abnormal dermatoglyphics
ORPHA:2792	PAX1	5075	HP:0001249	Intellectual disability
ORPHA:2792	PAX1	5075	HP:0003691	Scapular winging
ORPHA:2792	EYA1	2138	HP:0000411	Protruding ear
ORPHA:2792	EYA1	2138	HP:0001276	Hypertonia
ORPHA:2792	EYA1	2138	HP:0000400	Macrotia
ORPHA:2792	EYA1	2138	HP:0005280	Depressed nasal bridge
ORPHA:2792	EYA1	2138	HP:0200021	Down-sloping shoulders
ORPHA:2792	EYA1	2138	HP:0000293	Full cheeks
ORPHA:2792	EYA1	2138	HP:0000889	Abnormality of the clavicle
ORPHA:2792	EYA1	2138	HP:0001263	Global developmental delay
ORPHA:2792	EYA1	2138	HP:0001347	Hyperreflexia
ORPHA:2792	EYA1	2138	HP:0000405	Conductive hearing impairment
ORPHA:2792	EYA1	2138	HP:0002167	Neurological speech impairment
ORPHA:2792	EYA1	2138	HP:0004322	Short stature
ORPHA:2792	EYA1	2138	HP:0000218	High palate
ORPHA:2792	EYA1	2138	HP:0002750	Delayed skeletal maturation
ORPHA:2792	EYA1	2138	HP:0009738	Abnormality of the antihelix
ORPHA:2792	EYA1	2138	HP:0000463	Anteverted nares
ORPHA:2792	EYA1	2138	HP:0004467	Preauricular pit
ORPHA:2792	EYA1	2138	HP:0007477	Abnormal dermatoglyphics
ORPHA:2792	EYA1	2138	HP:0001249	Intellectual disability
ORPHA:2792	EYA1	2138	HP:0003691	Scapular winging
OMIM:616368	AFF4	27125	HP:0001513	Obesity
OMIM:616368	AFF4	27125	HP:0004322	Short stature
OMIM:616368	AFF4	27125	HP:0003577	Congenital onset
OMIM:616368	AFF4	27125	HP:0000527	Long eyelashes
OMIM:616368	AFF4	27125	HP:0011951	Aspiration pneumonia
OMIM:616368	AFF4	27125	HP:0000006	Autosomal dominant inheritance
OMIM:616368	AFF4	27125	HP:0001601	Laryngomalacia
OMIM:616368	AFF4	27125	HP:0001156	Brachydactyly
OMIM:616368	AFF4	27125	HP:0003196	Short nose
OMIM:616368	AFF4	27125	HP:0000574	Thick eyebrow
OMIM:616368	AFF4	27125	HP:0001643	Patent ductus arteriosus
OMIM:616368	AFF4	27125	HP:0000280	Coarse facial features
OMIM:616368	AFF4	27125	HP:0100874	Thick hair
OMIM:616368	AFF4	27125	HP:0002777	Tracheal stenosis
OMIM:616368	AFF4	27125	HP:0000316	Hypertelorism
OMIM:616368	AFF4	27125	HP:0001249	Intellectual disability
OMIM:616368	AFF4	27125	HP:0002020	Gastroesophageal reflux
OMIM:616368	AFF4	27125	HP:0000520	Proptosis
OMIM:616368	AFF4	27125	HP:0001263	Global developmental delay
OMIM:616368	AFF4	27125	HP:0000028	Cryptorchidism
OMIM:616368	AFF4	27125	HP:0000311	Round face
OMIM:616368	AFF4	27125	HP:0001671	Abnormality of the cardiac septa
OMIM:616368	AFF4	27125	HP:0002714	Downturned corners of mouth
OMIM:616368	AFF4	27125	HP:0006528	Chronic lung disease
OMIM:616368	AFF4	27125	HP:0000076	Vesicoureteral reflux
OMIM:168600	NR4A2	4929	HP:0001260	Dysarthria
OMIM:168600	NR4A2	4929	HP:0000012	Urinary urgency
OMIM:168600	NR4A2	4929	HP:0007311	Short stepped shuffling gait
OMIM:168600	NR4A2	4929	HP:0002063	Rigidity
OMIM:168600	NR4A2	4929	HP:0000298	Mask-like facies
OMIM:168600	NR4A2	4929	HP:0000726	Dementia
OMIM:168600	NR4A2	4929	HP:0100315	Lewy bodies
OMIM:168600	NR4A2	4929	HP:0002529	Neuronal loss in central nervous system
OMIM:168600	NR4A2	4929	HP:0002360	Sleep disturbance
OMIM:168600	NR4A2	4929	HP:0002019	Constipation
OMIM:168600	NR4A2	4929	HP:0000716	Depressivity
OMIM:168600	NR4A2	4929	HP:0002172	Postural instability
OMIM:168600	NR4A2	4929	HP:0002322	Resting tremor
OMIM:168600	NR4A2	4929	HP:0003676	Progressive
OMIM:168600	NR4A2	4929	HP:0011960	Substantia nigra gliosis
OMIM:168600	NR4A2	4929	HP:0002015	Dysphagia
OMIM:168600	NR4A2	4929	HP:0001300	Parkinsonism
OMIM:168600	NR4A2	4929	HP:0000751	Personality changes
OMIM:168600	NR4A2	4929	HP:0001621	Weak voice
OMIM:168600	NR4A2	4929	HP:0002067	Bradykinesia
OMIM:168600	NR4A2	4929	HP:0003745	Sporadic
OMIM:168600	NR4A2	4929	HP:0003587	Insidious onset
OMIM:168600	NR4A2	4929	HP:0001332	Dystonia
OMIM:168600	SNCAIP	9627	HP:0001260	Dysarthria
OMIM:168600	SNCAIP	9627	HP:0000012	Urinary urgency
OMIM:168600	SNCAIP	9627	HP:0007311	Short stepped shuffling gait
OMIM:168600	SNCAIP	9627	HP:0002063	Rigidity
OMIM:168600	SNCAIP	9627	HP:0000298	Mask-like facies
OMIM:168600	SNCAIP	9627	HP:0000726	Dementia
OMIM:168600	SNCAIP	9627	HP:0100315	Lewy bodies
OMIM:168600	SNCAIP	9627	HP:0002529	Neuronal loss in central nervous system
OMIM:168600	SNCAIP	9627	HP:0002360	Sleep disturbance
OMIM:168600	SNCAIP	9627	HP:0002019	Constipation
OMIM:168600	SNCAIP	9627	HP:0000716	Depressivity
OMIM:168600	SNCAIP	9627	HP:0002172	Postural instability
OMIM:168600	SNCAIP	9627	HP:0002322	Resting tremor
OMIM:168600	SNCAIP	9627	HP:0003676	Progressive
OMIM:168600	SNCAIP	9627	HP:0011960	Substantia nigra gliosis
OMIM:168600	SNCAIP	9627	HP:0002015	Dysphagia
OMIM:168600	SNCAIP	9627	HP:0001300	Parkinsonism
OMIM:168600	SNCAIP	9627	HP:0000751	Personality changes
OMIM:168600	SNCAIP	9627	HP:0001621	Weak voice
OMIM:168600	SNCAIP	9627	HP:0002067	Bradykinesia
OMIM:168600	SNCAIP	9627	HP:0003745	Sporadic
OMIM:168600	SNCAIP	9627	HP:0003587	Insidious onset
OMIM:168600	SNCAIP	9627	HP:0001332	Dystonia
OMIM:206700	PAX6	5080	HP:0000505	Visual impairment
OMIM:206700	PAX6	5080	HP:0000526	Aniridia
OMIM:206700	PAX6	5080	HP:0002174	Postural tremor
OMIM:206700	PAX6	5080	HP:0001249	Intellectual disability
OMIM:206700	PAX6	5080	HP:0000007	Autosomal recessive inheritance
OMIM:206700	PAX6	5080	HP:0001321	Cerebellar hypoplasia
OMIM:206700	PAX6	5080	HP:0001251	Ataxia
OMIM:206700	PAX6	5080	HP:0000639	Nystagmus
OMIM:206700	PAX6	5080	HP:0001350	Slurred speech
OMIM:206700	PAX6	5080	HP:0001270	Motor delay
OMIM:206700	PAX6	5080	HP:0007676	Hypoplasia of the iris
OMIM:206700	ITPR1	3708	HP:0000505	Visual impairment
OMIM:206700	ITPR1	3708	HP:0000526	Aniridia
OMIM:206700	ITPR1	3708	HP:0002174	Postural tremor
OMIM:206700	ITPR1	3708	HP:0001249	Intellectual disability
OMIM:206700	ITPR1	3708	HP:0000007	Autosomal recessive inheritance
OMIM:206700	ITPR1	3708	HP:0001321	Cerebellar hypoplasia
OMIM:206700	ITPR1	3708	HP:0001251	Ataxia
OMIM:206700	ITPR1	3708	HP:0000639	Nystagmus
OMIM:206700	ITPR1	3708	HP:0001350	Slurred speech
OMIM:206700	ITPR1	3708	HP:0001270	Motor delay
OMIM:206700	ITPR1	3708	HP:0007676	Hypoplasia of the iris
OMIM:615883	ORAI1	84876	HP:0000006	Autosomal dominant inheritance
OMIM:615883	ORAI1	84876	HP:0002522	Areflexia of lower limbs
OMIM:615883	ORAI1	84876	HP:0009027	Foot dorsiflexor weakness
OMIM:615883	ORAI1	84876	HP:0000616	Miosis
OMIM:615883	ORAI1	84876	HP:0002901	Hypocalcemia
OMIM:615883	ORAI1	84876	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615883	ORAI1	84876	HP:0001371	Flexion contracture
OMIM:615883	ORAI1	84876	HP:0003677	Slow progression
OMIM:615883	ORAI1	84876	HP:0003324	Generalized muscle weakness
OMIM:615883	ORAI1	84876	HP:0003306	Spinal rigidity
OMIM:615883	ORAI1	84876	HP:0003701	Proximal muscle weakness
ORPHA:481	AR	367	HP:0000144	Decreased fertility
ORPHA:481	AR	367	HP:0001265	Hyporeflexia
ORPHA:481	AR	367	HP:0001288	Gait disturbance
ORPHA:481	AR	367	HP:0001252	Muscular hypotonia
ORPHA:481	AR	367	HP:0001618	Dysphonia
ORPHA:481	AR	367	HP:0100639	Erectile abnormalities
ORPHA:481	AR	367	HP:0000771	Gynecomastia
ORPHA:481	AR	367	HP:0001260	Dysarthria
ORPHA:481	AR	367	HP:0003202	Skeletal muscle atrophy
OMIM:300301	IKBKG	8517	HP:0000968	Ectodermal dysplasia
OMIM:300301	IKBKG	8517	HP:0011002	Osteopetrosis
OMIM:300301	IKBKG	8517	HP:0001004	Lymphedema
OMIM:300301	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:300301	IKBKG	8517	HP:0002719	Recurrent infections
ORPHA:478	PROK2	60675	HP:0000823	Delayed puberty
ORPHA:478	PROK2	60675	HP:0000830	Anterior hypopituitarism
ORPHA:478	PROK2	60675	HP:0004409	Hyposmia
ORPHA:478	PROK2	60675	HP:0000458	Anosmia
ORPHA:478	PROK2	60675	HP:0001608	Abnormality of the voice
ORPHA:478	PROK2	60675	HP:0000054	Micropenis
ORPHA:478	PROK2	60675	HP:0100639	Erectile abnormalities
ORPHA:478	PROK2	60675	HP:0000144	Decreased fertility
ORPHA:478	PROK2	60675	HP:0000028	Cryptorchidism
ORPHA:478	PROK2	60675	HP:0003187	Breast hypoplasia
ORPHA:478	PROK2	60675	HP:0008734	Decreased testicular size
ORPHA:478	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	PROK2	60675	HP:0004349	Reduced bone mineral density
ORPHA:478	PROK2	60675	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	PROKR2	128674	HP:0000823	Delayed puberty
ORPHA:478	PROKR2	128674	HP:0000830	Anterior hypopituitarism
ORPHA:478	PROKR2	128674	HP:0004409	Hyposmia
ORPHA:478	PROKR2	128674	HP:0000458	Anosmia
ORPHA:478	PROKR2	128674	HP:0001608	Abnormality of the voice
ORPHA:478	PROKR2	128674	HP:0000054	Micropenis
ORPHA:478	PROKR2	128674	HP:0100639	Erectile abnormalities
ORPHA:478	PROKR2	128674	HP:0000144	Decreased fertility
ORPHA:478	PROKR2	128674	HP:0000028	Cryptorchidism
ORPHA:478	PROKR2	128674	HP:0003187	Breast hypoplasia
ORPHA:478	PROKR2	128674	HP:0008734	Decreased testicular size
ORPHA:478	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	PROKR2	128674	HP:0004349	Reduced bone mineral density
ORPHA:478	PROKR2	128674	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	SEMA3A	10371	HP:0000823	Delayed puberty
ORPHA:478	SEMA3A	10371	HP:0000830	Anterior hypopituitarism
ORPHA:478	SEMA3A	10371	HP:0004409	Hyposmia
ORPHA:478	SEMA3A	10371	HP:0000458	Anosmia
ORPHA:478	SEMA3A	10371	HP:0001608	Abnormality of the voice
ORPHA:478	SEMA3A	10371	HP:0000054	Micropenis
ORPHA:478	SEMA3A	10371	HP:0100639	Erectile abnormalities
ORPHA:478	SEMA3A	10371	HP:0000144	Decreased fertility
ORPHA:478	SEMA3A	10371	HP:0000028	Cryptorchidism
ORPHA:478	SEMA3A	10371	HP:0003187	Breast hypoplasia
ORPHA:478	SEMA3A	10371	HP:0008734	Decreased testicular size
ORPHA:478	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	SEMA3A	10371	HP:0004349	Reduced bone mineral density
ORPHA:478	SEMA3A	10371	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	IL17RD	54756	HP:0000823	Delayed puberty
ORPHA:478	IL17RD	54756	HP:0000830	Anterior hypopituitarism
ORPHA:478	IL17RD	54756	HP:0004409	Hyposmia
ORPHA:478	IL17RD	54756	HP:0000458	Anosmia
ORPHA:478	IL17RD	54756	HP:0001608	Abnormality of the voice
ORPHA:478	IL17RD	54756	HP:0000054	Micropenis
ORPHA:478	IL17RD	54756	HP:0100639	Erectile abnormalities
ORPHA:478	IL17RD	54756	HP:0000144	Decreased fertility
ORPHA:478	IL17RD	54756	HP:0000028	Cryptorchidism
ORPHA:478	IL17RD	54756	HP:0003187	Breast hypoplasia
ORPHA:478	IL17RD	54756	HP:0008734	Decreased testicular size
ORPHA:478	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	IL17RD	54756	HP:0004349	Reduced bone mineral density
ORPHA:478	IL17RD	54756	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	WDR11	55717	HP:0000823	Delayed puberty
ORPHA:478	WDR11	55717	HP:0000830	Anterior hypopituitarism
ORPHA:478	WDR11	55717	HP:0004409	Hyposmia
ORPHA:478	WDR11	55717	HP:0000458	Anosmia
ORPHA:478	WDR11	55717	HP:0001608	Abnormality of the voice
ORPHA:478	WDR11	55717	HP:0000054	Micropenis
ORPHA:478	WDR11	55717	HP:0100639	Erectile abnormalities
ORPHA:478	WDR11	55717	HP:0000144	Decreased fertility
ORPHA:478	WDR11	55717	HP:0000028	Cryptorchidism
ORPHA:478	WDR11	55717	HP:0003187	Breast hypoplasia
ORPHA:478	WDR11	55717	HP:0008734	Decreased testicular size
ORPHA:478	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	WDR11	55717	HP:0004349	Reduced bone mineral density
ORPHA:478	WDR11	55717	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	SOX10	6663	HP:0000823	Delayed puberty
ORPHA:478	SOX10	6663	HP:0000830	Anterior hypopituitarism
ORPHA:478	SOX10	6663	HP:0004409	Hyposmia
ORPHA:478	SOX10	6663	HP:0000458	Anosmia
ORPHA:478	SOX10	6663	HP:0001608	Abnormality of the voice
ORPHA:478	SOX10	6663	HP:0000054	Micropenis
ORPHA:478	SOX10	6663	HP:0100639	Erectile abnormalities
ORPHA:478	SOX10	6663	HP:0000144	Decreased fertility
ORPHA:478	SOX10	6663	HP:0000028	Cryptorchidism
ORPHA:478	SOX10	6663	HP:0003187	Breast hypoplasia
ORPHA:478	SOX10	6663	HP:0008734	Decreased testicular size
ORPHA:478	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	SOX10	6663	HP:0004349	Reduced bone mineral density
ORPHA:478	SOX10	6663	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	FEZF1	389549	HP:0000823	Delayed puberty
ORPHA:478	FEZF1	389549	HP:0000830	Anterior hypopituitarism
ORPHA:478	FEZF1	389549	HP:0004409	Hyposmia
ORPHA:478	FEZF1	389549	HP:0000458	Anosmia
ORPHA:478	FEZF1	389549	HP:0001608	Abnormality of the voice
ORPHA:478	FEZF1	389549	HP:0000054	Micropenis
ORPHA:478	FEZF1	389549	HP:0100639	Erectile abnormalities
ORPHA:478	FEZF1	389549	HP:0000144	Decreased fertility
ORPHA:478	FEZF1	389549	HP:0000028	Cryptorchidism
ORPHA:478	FEZF1	389549	HP:0003187	Breast hypoplasia
ORPHA:478	FEZF1	389549	HP:0008734	Decreased testicular size
ORPHA:478	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	FEZF1	389549	HP:0004349	Reduced bone mineral density
ORPHA:478	FEZF1	389549	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	FGF8	2253	HP:0000823	Delayed puberty
ORPHA:478	FGF8	2253	HP:0000830	Anterior hypopituitarism
ORPHA:478	FGF8	2253	HP:0004409	Hyposmia
ORPHA:478	FGF8	2253	HP:0000458	Anosmia
ORPHA:478	FGF8	2253	HP:0001608	Abnormality of the voice
ORPHA:478	FGF8	2253	HP:0000054	Micropenis
ORPHA:478	FGF8	2253	HP:0100639	Erectile abnormalities
ORPHA:478	FGF8	2253	HP:0000144	Decreased fertility
ORPHA:478	FGF8	2253	HP:0000028	Cryptorchidism
ORPHA:478	FGF8	2253	HP:0003187	Breast hypoplasia
ORPHA:478	FGF8	2253	HP:0008734	Decreased testicular size
ORPHA:478	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	FGF8	2253	HP:0004349	Reduced bone mineral density
ORPHA:478	FGF8	2253	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	ANOS1	3730	HP:0000823	Delayed puberty
ORPHA:478	ANOS1	3730	HP:0000830	Anterior hypopituitarism
ORPHA:478	ANOS1	3730	HP:0004409	Hyposmia
ORPHA:478	ANOS1	3730	HP:0000458	Anosmia
ORPHA:478	ANOS1	3730	HP:0001608	Abnormality of the voice
ORPHA:478	ANOS1	3730	HP:0000054	Micropenis
ORPHA:478	ANOS1	3730	HP:0100639	Erectile abnormalities
ORPHA:478	ANOS1	3730	HP:0000144	Decreased fertility
ORPHA:478	ANOS1	3730	HP:0000028	Cryptorchidism
ORPHA:478	ANOS1	3730	HP:0003187	Breast hypoplasia
ORPHA:478	ANOS1	3730	HP:0008734	Decreased testicular size
ORPHA:478	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	ANOS1	3730	HP:0004349	Reduced bone mineral density
ORPHA:478	ANOS1	3730	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	HS6ST1	9394	HP:0000823	Delayed puberty
ORPHA:478	HS6ST1	9394	HP:0000830	Anterior hypopituitarism
ORPHA:478	HS6ST1	9394	HP:0004409	Hyposmia
ORPHA:478	HS6ST1	9394	HP:0000458	Anosmia
ORPHA:478	HS6ST1	9394	HP:0001608	Abnormality of the voice
ORPHA:478	HS6ST1	9394	HP:0000054	Micropenis
ORPHA:478	HS6ST1	9394	HP:0100639	Erectile abnormalities
ORPHA:478	HS6ST1	9394	HP:0000144	Decreased fertility
ORPHA:478	HS6ST1	9394	HP:0000028	Cryptorchidism
ORPHA:478	HS6ST1	9394	HP:0003187	Breast hypoplasia
ORPHA:478	HS6ST1	9394	HP:0008734	Decreased testicular size
ORPHA:478	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	HS6ST1	9394	HP:0004349	Reduced bone mineral density
ORPHA:478	HS6ST1	9394	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	CHD7	55636	HP:0000823	Delayed puberty
ORPHA:478	CHD7	55636	HP:0000830	Anterior hypopituitarism
ORPHA:478	CHD7	55636	HP:0004409	Hyposmia
ORPHA:478	CHD7	55636	HP:0000458	Anosmia
ORPHA:478	CHD7	55636	HP:0001608	Abnormality of the voice
ORPHA:478	CHD7	55636	HP:0000054	Micropenis
ORPHA:478	CHD7	55636	HP:0100639	Erectile abnormalities
ORPHA:478	CHD7	55636	HP:0000144	Decreased fertility
ORPHA:478	CHD7	55636	HP:0000028	Cryptorchidism
ORPHA:478	CHD7	55636	HP:0003187	Breast hypoplasia
ORPHA:478	CHD7	55636	HP:0008734	Decreased testicular size
ORPHA:478	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	CHD7	55636	HP:0004349	Reduced bone mineral density
ORPHA:478	CHD7	55636	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	FGFR1	2260	HP:0000823	Delayed puberty
ORPHA:478	FGFR1	2260	HP:0000830	Anterior hypopituitarism
ORPHA:478	FGFR1	2260	HP:0004409	Hyposmia
ORPHA:478	FGFR1	2260	HP:0000458	Anosmia
ORPHA:478	FGFR1	2260	HP:0001608	Abnormality of the voice
ORPHA:478	FGFR1	2260	HP:0000054	Micropenis
ORPHA:478	FGFR1	2260	HP:0100639	Erectile abnormalities
ORPHA:478	FGFR1	2260	HP:0000144	Decreased fertility
ORPHA:478	FGFR1	2260	HP:0000028	Cryptorchidism
ORPHA:478	FGFR1	2260	HP:0003187	Breast hypoplasia
ORPHA:478	FGFR1	2260	HP:0008734	Decreased testicular size
ORPHA:478	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	FGFR1	2260	HP:0004349	Reduced bone mineral density
ORPHA:478	FGFR1	2260	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	HESX1	8820	HP:0000823	Delayed puberty
ORPHA:478	HESX1	8820	HP:0000830	Anterior hypopituitarism
ORPHA:478	HESX1	8820	HP:0004409	Hyposmia
ORPHA:478	HESX1	8820	HP:0000458	Anosmia
ORPHA:478	HESX1	8820	HP:0001608	Abnormality of the voice
ORPHA:478	HESX1	8820	HP:0000054	Micropenis
ORPHA:478	HESX1	8820	HP:0100639	Erectile abnormalities
ORPHA:478	HESX1	8820	HP:0000144	Decreased fertility
ORPHA:478	HESX1	8820	HP:0000028	Cryptorchidism
ORPHA:478	HESX1	8820	HP:0003187	Breast hypoplasia
ORPHA:478	HESX1	8820	HP:0008734	Decreased testicular size
ORPHA:478	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	HESX1	8820	HP:0004349	Reduced bone mineral density
ORPHA:478	HESX1	8820	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	TACR3	6870	HP:0000823	Delayed puberty
ORPHA:478	TACR3	6870	HP:0000830	Anterior hypopituitarism
ORPHA:478	TACR3	6870	HP:0004409	Hyposmia
ORPHA:478	TACR3	6870	HP:0000458	Anosmia
ORPHA:478	TACR3	6870	HP:0001608	Abnormality of the voice
ORPHA:478	TACR3	6870	HP:0000054	Micropenis
ORPHA:478	TACR3	6870	HP:0100639	Erectile abnormalities
ORPHA:478	TACR3	6870	HP:0000144	Decreased fertility
ORPHA:478	TACR3	6870	HP:0000028	Cryptorchidism
ORPHA:478	TACR3	6870	HP:0003187	Breast hypoplasia
ORPHA:478	TACR3	6870	HP:0008734	Decreased testicular size
ORPHA:478	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	TACR3	6870	HP:0004349	Reduced bone mineral density
ORPHA:478	TACR3	6870	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	FGF17	8822	HP:0000823	Delayed puberty
ORPHA:478	FGF17	8822	HP:0000830	Anterior hypopituitarism
ORPHA:478	FGF17	8822	HP:0004409	Hyposmia
ORPHA:478	FGF17	8822	HP:0000458	Anosmia
ORPHA:478	FGF17	8822	HP:0001608	Abnormality of the voice
ORPHA:478	FGF17	8822	HP:0000054	Micropenis
ORPHA:478	FGF17	8822	HP:0100639	Erectile abnormalities
ORPHA:478	FGF17	8822	HP:0000144	Decreased fertility
ORPHA:478	FGF17	8822	HP:0000028	Cryptorchidism
ORPHA:478	FGF17	8822	HP:0003187	Breast hypoplasia
ORPHA:478	FGF17	8822	HP:0008734	Decreased testicular size
ORPHA:478	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	FGF17	8822	HP:0004349	Reduced bone mineral density
ORPHA:478	FGF17	8822	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	FLRT3	23767	HP:0000823	Delayed puberty
ORPHA:478	FLRT3	23767	HP:0000830	Anterior hypopituitarism
ORPHA:478	FLRT3	23767	HP:0004409	Hyposmia
ORPHA:478	FLRT3	23767	HP:0000458	Anosmia
ORPHA:478	FLRT3	23767	HP:0001608	Abnormality of the voice
ORPHA:478	FLRT3	23767	HP:0000054	Micropenis
ORPHA:478	FLRT3	23767	HP:0100639	Erectile abnormalities
ORPHA:478	FLRT3	23767	HP:0000144	Decreased fertility
ORPHA:478	FLRT3	23767	HP:0000028	Cryptorchidism
ORPHA:478	FLRT3	23767	HP:0003187	Breast hypoplasia
ORPHA:478	FLRT3	23767	HP:0008734	Decreased testicular size
ORPHA:478	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	FLRT3	23767	HP:0004349	Reduced bone mineral density
ORPHA:478	FLRT3	23767	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	DUSP6	1848	HP:0000823	Delayed puberty
ORPHA:478	DUSP6	1848	HP:0000830	Anterior hypopituitarism
ORPHA:478	DUSP6	1848	HP:0004409	Hyposmia
ORPHA:478	DUSP6	1848	HP:0000458	Anosmia
ORPHA:478	DUSP6	1848	HP:0001608	Abnormality of the voice
ORPHA:478	DUSP6	1848	HP:0000054	Micropenis
ORPHA:478	DUSP6	1848	HP:0100639	Erectile abnormalities
ORPHA:478	DUSP6	1848	HP:0000144	Decreased fertility
ORPHA:478	DUSP6	1848	HP:0000028	Cryptorchidism
ORPHA:478	DUSP6	1848	HP:0003187	Breast hypoplasia
ORPHA:478	DUSP6	1848	HP:0008734	Decreased testicular size
ORPHA:478	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	DUSP6	1848	HP:0004349	Reduced bone mineral density
ORPHA:478	DUSP6	1848	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	SPRY4	81848	HP:0000823	Delayed puberty
ORPHA:478	SPRY4	81848	HP:0000830	Anterior hypopituitarism
ORPHA:478	SPRY4	81848	HP:0004409	Hyposmia
ORPHA:478	SPRY4	81848	HP:0000458	Anosmia
ORPHA:478	SPRY4	81848	HP:0001608	Abnormality of the voice
ORPHA:478	SPRY4	81848	HP:0000054	Micropenis
ORPHA:478	SPRY4	81848	HP:0100639	Erectile abnormalities
ORPHA:478	SPRY4	81848	HP:0000144	Decreased fertility
ORPHA:478	SPRY4	81848	HP:0000028	Cryptorchidism
ORPHA:478	SPRY4	81848	HP:0003187	Breast hypoplasia
ORPHA:478	SPRY4	81848	HP:0008734	Decreased testicular size
ORPHA:478	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	SPRY4	81848	HP:0004349	Reduced bone mineral density
ORPHA:478	SPRY4	81848	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	KISS1R	84634	HP:0000823	Delayed puberty
ORPHA:478	KISS1R	84634	HP:0000830	Anterior hypopituitarism
ORPHA:478	KISS1R	84634	HP:0004409	Hyposmia
ORPHA:478	KISS1R	84634	HP:0000458	Anosmia
ORPHA:478	KISS1R	84634	HP:0001608	Abnormality of the voice
ORPHA:478	KISS1R	84634	HP:0000054	Micropenis
ORPHA:478	KISS1R	84634	HP:0100639	Erectile abnormalities
ORPHA:478	KISS1R	84634	HP:0000144	Decreased fertility
ORPHA:478	KISS1R	84634	HP:0000028	Cryptorchidism
ORPHA:478	KISS1R	84634	HP:0003187	Breast hypoplasia
ORPHA:478	KISS1R	84634	HP:0008734	Decreased testicular size
ORPHA:478	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	KISS1R	84634	HP:0004349	Reduced bone mineral density
ORPHA:478	KISS1R	84634	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
ORPHA:478	NSMF	26012	HP:0000823	Delayed puberty
ORPHA:478	NSMF	26012	HP:0000830	Anterior hypopituitarism
ORPHA:478	NSMF	26012	HP:0004409	Hyposmia
ORPHA:478	NSMF	26012	HP:0000458	Anosmia
ORPHA:478	NSMF	26012	HP:0001608	Abnormality of the voice
ORPHA:478	NSMF	26012	HP:0000054	Micropenis
ORPHA:478	NSMF	26012	HP:0100639	Erectile abnormalities
ORPHA:478	NSMF	26012	HP:0000144	Decreased fertility
ORPHA:478	NSMF	26012	HP:0000028	Cryptorchidism
ORPHA:478	NSMF	26012	HP:0003187	Breast hypoplasia
ORPHA:478	NSMF	26012	HP:0008734	Decreased testicular size
ORPHA:478	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:478	NSMF	26012	HP:0004349	Reduced bone mineral density
ORPHA:478	NSMF	26012	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
OMIM:613090	CLCNKA	1187	HP:0000127	Renal salt wasting
OMIM:613090	CLCNKA	1187	HP:0001290	Generalized hypotonia
OMIM:613090	CLCNKA	1187	HP:0012605	Hypernatriuria
OMIM:613090	CLCNKA	1187	HP:0000083	Renal insufficiency
OMIM:613090	CLCNKA	1187	HP:0003577	Congenital onset
OMIM:613090	CLCNKA	1187	HP:0000407	Sensorineural hearing impairment
OMIM:613090	CLCNKA	1187	HP:0001622	Premature birth
OMIM:613090	CLCNKA	1187	HP:0000103	Polyuria
OMIM:613090	CLCNKA	1187	HP:0012213	Decreased glomerular filtration rate
OMIM:613090	CLCNKA	1187	HP:0001265	Hyporeflexia
OMIM:613090	CLCNKA	1187	HP:0001249	Intellectual disability
OMIM:613090	CLCNKA	1187	HP:0001270	Motor delay
OMIM:613090	CLCNKA	1187	HP:0001561	Polyhydramnios
OMIM:613090	CLCNKA	1187	HP:0003081	Increased urinary potassium
OMIM:613090	CLCNKA	1187	HP:0003113	Hypochloremia
OMIM:613090	CLCNKA	1187	HP:0001425	Heterogeneous
OMIM:613090	CLCNKA	1187	HP:0000969	Edema
OMIM:613090	CLCNKA	1187	HP:0001508	Failure to thrive
OMIM:613090	CLCNKA	1187	HP:0002900	Hypokalemia
OMIM:613090	CLCNKA	1187	HP:0002902	Hyponatremia
OMIM:613090	CLCNKA	1187	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
OMIM:613090	CLCNKA	1187	HP:0001563	Fetal polyuria
OMIM:613090	CLCNKA	1187	HP:0002914	Hyperchloriduria
OMIM:613090	CLCNKA	1187	HP:0000859	Hyperaldosteronism
OMIM:613090	CLCNKB	1188	HP:0000127	Renal salt wasting
OMIM:613090	CLCNKB	1188	HP:0001290	Generalized hypotonia
OMIM:613090	CLCNKB	1188	HP:0012605	Hypernatriuria
OMIM:613090	CLCNKB	1188	HP:0000083	Renal insufficiency
OMIM:613090	CLCNKB	1188	HP:0003577	Congenital onset
OMIM:613090	CLCNKB	1188	HP:0000407	Sensorineural hearing impairment
OMIM:613090	CLCNKB	1188	HP:0001622	Premature birth
OMIM:613090	CLCNKB	1188	HP:0000103	Polyuria
OMIM:613090	CLCNKB	1188	HP:0012213	Decreased glomerular filtration rate
OMIM:613090	CLCNKB	1188	HP:0001265	Hyporeflexia
OMIM:613090	CLCNKB	1188	HP:0001249	Intellectual disability
OMIM:613090	CLCNKB	1188	HP:0001270	Motor delay
OMIM:613090	CLCNKB	1188	HP:0001561	Polyhydramnios
OMIM:613090	CLCNKB	1188	HP:0003081	Increased urinary potassium
OMIM:613090	CLCNKB	1188	HP:0003113	Hypochloremia
OMIM:613090	CLCNKB	1188	HP:0001425	Heterogeneous
OMIM:613090	CLCNKB	1188	HP:0000969	Edema
OMIM:613090	CLCNKB	1188	HP:0001508	Failure to thrive
OMIM:613090	CLCNKB	1188	HP:0002900	Hypokalemia
OMIM:613090	CLCNKB	1188	HP:0002902	Hyponatremia
OMIM:613090	CLCNKB	1188	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
OMIM:613090	CLCNKB	1188	HP:0001563	Fetal polyuria
OMIM:613090	CLCNKB	1188	HP:0002914	Hyperchloriduria
OMIM:613090	CLCNKB	1188	HP:0000859	Hyperaldosteronism
OMIM:112240	P4HB	5034	HP:0000347	Micrognathia
OMIM:112240	P4HB	5034	HP:0000586	Shallow orbits
OMIM:112240	P4HB	5034	HP:0004322	Short stature
OMIM:112240	P4HB	5034	HP:0002007	Frontal bossing
OMIM:112240	P4HB	5034	HP:0000938	Osteopenia
OMIM:112240	P4HB	5034	HP:0002757	Recurrent fractures
OMIM:112240	P4HB	5034	HP:0005472	Orbital craniosynostosis
OMIM:112240	P4HB	5034	HP:0004440	Coronal craniosynostosis
OMIM:112240	P4HB	5034	HP:0000006	Autosomal dominant inheritance
OMIM:112240	P4HB	5034	HP:0002953	Vertebral compression fractures
OMIM:112240	P4HB	5034	HP:0001620	High pitched voice
OMIM:112240	P4HB	5034	HP:0011800	Midface retrusion
OMIM:112240	P4HB	5034	HP:0001334	Communicating hydrocephalus
OMIM:112240	P4HB	5034	HP:0000691	Microdontia
OMIM:609254	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:609254	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:609254	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:609254	IQCB1	9657	HP:0001425	Heterogeneous
OMIM:609254	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:615476	SZT2	23334	HP:0002353	EEG abnormality
OMIM:615476	SZT2	23334	HP:0002121	Absence seizures
OMIM:615476	SZT2	23334	HP:0200134	Epileptic encephalopathy
OMIM:615476	SZT2	23334	HP:0001265	Hyporeflexia
OMIM:615476	SZT2	23334	HP:0001290	Generalized hypotonia
OMIM:615476	SZT2	23334	HP:0000494	Downslanted palpebral fissures
OMIM:615476	SZT2	23334	HP:0002553	Highly arched eyebrow
OMIM:615476	SZT2	23334	HP:0000007	Autosomal recessive inheritance
OMIM:615476	SZT2	23334	HP:0001263	Global developmental delay
OMIM:615476	SZT2	23334	HP:0000508	Ptosis
OMIM:615476	SZT2	23334	HP:0007359	Focal seizures
OMIM:615476	SZT2	23334	HP:0000348	High forehead
OMIM:615476	SZT2	23334	HP:0007074	Thick corpus callosum
OMIM:607876	ADRA2B	151	HP:0010852	EEG with photoparoxysmal response
OMIM:607876	ADRA2B	151	HP:0001340	Enhancement of the C-reflex
OMIM:607876	ADRA2B	151	HP:0001326	EEG with irregular generalized spike and wave complexes
OMIM:607876	ADRA2B	151	HP:0001336	Myoclonus
OMIM:607876	ADRA2B	151	HP:0000006	Autosomal dominant inheritance
OMIM:607876	ADRA2B	151	HP:0003680	Nonprogressive
OMIM:607876	ADRA2B	151	HP:0002069	Generalized tonic-clonic seizures
OMIM:607876	ADRA2B	151	HP:0000643	Blepharospasm
OMIM:607876	ADRA2B	151	HP:0001351	Jerk-locked premyoclonus spikes
OMIM:607876	ADRA2B	151	HP:0001337	Tremor
OMIM:607876	ADRA2B	151	HP:0003581	Adult onset
OMIM:607876	ADRA2B	151	HP:0001312	Giant somatosensory evoked potentials
OMIM:266200	PKLR	5313	HP:0000952	Jaundice
OMIM:266200	PKLR	5313	HP:0001081	Cholelithiasis
OMIM:266200	PKLR	5313	HP:0001923	Reticulocytosis
OMIM:266200	PKLR	5313	HP:0001744	Splenomegaly
OMIM:266200	PKLR	5313	HP:0000007	Autosomal recessive inheritance
OMIM:266200	PKLR	5313	HP:0001082	Cholecystitis
OMIM:266200	PKLR	5313	HP:0004870	Chronic hemolytic anemia
OMIM:266200	PKLR	5313	HP:0005502	Increased red cell osmotic fragility
OMIM:266200	PKLR	5313	HP:0001560	Abnormality of the amniotic fluid
OMIM:266200	PKLR	5313	HP:0008282	Unconjugated hyperbilirubinemia
OMIM:613376	HSPB3	8988	HP:0002600	Hyporeflexia of lower limbs
OMIM:613376	HSPB3	8988	HP:0003376	Steppage gait
OMIM:613376	HSPB3	8988	HP:0002522	Areflexia of lower limbs
OMIM:613376	HSPB3	8988	HP:0008959	Distal upper limb muscle weakness
OMIM:613376	HSPB3	8988	HP:0003202	Skeletal muscle atrophy
OMIM:613376	HSPB3	8988	HP:0003677	Slow progression
OMIM:613376	HSPB3	8988	HP:0009053	Distal lower limb muscle weakness
OMIM:613376	HSPB3	8988	HP:0000006	Autosomal dominant inheritance
OMIM:613376	HSPB3	8988	HP:0009830	Peripheral neuropathy
OMIM:613376	HSPB3	8988	HP:0003445	EMG: neuropathic changes
OMIM:613376	HSPB3	8988	HP:0002355	Difficulty walking
OMIM:203750	ACAT1	38	HP:0000007	Autosomal recessive inheritance
OMIM:203750	ACAT1	38	HP:0005974	Episodic ketoacidosis
OMIM:203750	ACAT1	38	HP:0001249	Intellectual disability
OMIM:203750	ACAT1	38	HP:0001944	Dehydration
OMIM:203750	ACAT1	38	HP:0002013	Vomiting
ORPHA:1762	MECP2	4204	HP:0000047	Hypospadias
ORPHA:1762	MECP2	4204	HP:0000232	Everted lower lip vermilion
ORPHA:1762	MECP2	4204	HP:0000767	Pectus excavatum
ORPHA:1762	MECP2	4204	HP:0002750	Delayed skeletal maturation
ORPHA:1762	MECP2	4204	HP:0002167	Neurological speech impairment
ORPHA:1762	MECP2	4204	HP:0001288	Gait disturbance
ORPHA:1762	MECP2	4204	HP:0004299	Hernia of the abdominal wall
ORPHA:1762	MECP2	4204	HP:0000286	Epicanthus
ORPHA:1762	MECP2	4204	HP:0010864	Intellectual disability, severe
ORPHA:1762	MECP2	4204	HP:0004322	Short stature
ORPHA:1762	MECP2	4204	HP:0002916	Abnormality of chromosome segregation
ORPHA:1762	MECP2	4204	HP:0010804	Tented upper lip vermilion
ORPHA:1762	MECP2	4204	HP:0000581	Blepharophimosis
ORPHA:1762	MECP2	4204	HP:0000028	Cryptorchidism
ORPHA:1762	MECP2	4204	HP:0000508	Ptosis
ORPHA:1762	MECP2	4204	HP:0011344	Severe global developmental delay
OMIM:615763	TUBB2A	7280	HP:0001263	Global developmental delay
OMIM:615763	TUBB2A	7280	HP:0000006	Autosomal dominant inheritance
OMIM:615763	TUBB2A	7280	HP:0001250	Seizures
OMIM:615763	TUBB2A	7280	HP:0003828	Variable expressivity
OMIM:615763	TUBB2A	7280	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615763	TUBB2A	7280	HP:0001290	Generalized hypotonia
OMIM:615763	TUBB2A	7280	HP:0002539	Cortical dysplasia
OMIM:608768	ATXN8	724066	HP:0001257	Spasticity
OMIM:608768	ATXN8	724066	HP:0001337	Tremor
OMIM:608768	ATXN8	724066	HP:0002073	Progressive cerebellar ataxia
OMIM:608768	ATXN8	724066	HP:0002311	Incoordination
OMIM:608768	ATXN8	724066	HP:0007256	Abnormal pyramidal signs
OMIM:608768	ATXN8	724066	HP:0000639	Nystagmus
OMIM:608768	ATXN8	724066	HP:0000641	Dysmetric saccades
OMIM:608768	ATXN8	724066	HP:0001260	Dysarthria
OMIM:608768	ATXN8	724066	HP:0002015	Dysphagia
OMIM:608768	ATXN8	724066	HP:0000514	Slow saccadic eye movements
OMIM:608768	ATXN8	724066	HP:0007772	Impaired smooth pursuit
OMIM:608768	ATXN8	724066	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608768	ATXN8	724066	HP:0001272	Cerebellar atrophy
OMIM:608768	ATXN8	724066	HP:0000006	Autosomal dominant inheritance
OMIM:608768	ATXN8	724066	HP:0009830	Peripheral neuropathy
OMIM:608768	ATXN8OS	6315	HP:0001257	Spasticity
OMIM:608768	ATXN8OS	6315	HP:0001337	Tremor
OMIM:608768	ATXN8OS	6315	HP:0002073	Progressive cerebellar ataxia
OMIM:608768	ATXN8OS	6315	HP:0002311	Incoordination
OMIM:608768	ATXN8OS	6315	HP:0007256	Abnormal pyramidal signs
OMIM:608768	ATXN8OS	6315	HP:0000639	Nystagmus
OMIM:608768	ATXN8OS	6315	HP:0000641	Dysmetric saccades
OMIM:608768	ATXN8OS	6315	HP:0001260	Dysarthria
OMIM:608768	ATXN8OS	6315	HP:0002015	Dysphagia
OMIM:608768	ATXN8OS	6315	HP:0000514	Slow saccadic eye movements
OMIM:608768	ATXN8OS	6315	HP:0007772	Impaired smooth pursuit
OMIM:608768	ATXN8OS	6315	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608768	ATXN8OS	6315	HP:0001272	Cerebellar atrophy
OMIM:608768	ATXN8OS	6315	HP:0000006	Autosomal dominant inheritance
OMIM:608768	ATXN8OS	6315	HP:0009830	Peripheral neuropathy
OMIM:269920	SLC17A5	26503	HP:0002286	Fair hair
OMIM:269920	SLC17A5	26503	HP:0000286	Epicanthus
OMIM:269920	SLC17A5	26503	HP:0002240	Hepatomegaly
OMIM:269920	SLC17A5	26503	HP:0001010	Hypopigmentation of the skin
OMIM:269920	SLC17A5	26503	HP:0001541	Ascites
OMIM:269920	SLC17A5	26503	HP:0001508	Failure to thrive
OMIM:269920	SLC17A5	26503	HP:0001640	Cardiomegaly
OMIM:269920	SLC17A5	26503	HP:0001635	Congestive heart failure
OMIM:269920	SLC17A5	26503	HP:0001250	Seizures
OMIM:269920	SLC17A5	26503	HP:0003025	Metaphyseal irregularity
OMIM:269920	SLC17A5	26503	HP:0003819	Death in childhood
OMIM:269920	SLC17A5	26503	HP:0000100	Nephrotic syndrome
OMIM:269920	SLC17A5	26503	HP:0001290	Generalized hypotonia
OMIM:269920	SLC17A5	26503	HP:0000238	Hydrocephalus
OMIM:269920	SLC17A5	26503	HP:0000508	Ptosis
OMIM:269920	SLC17A5	26503	HP:0001760	Abnormality of the foot
OMIM:269920	SLC17A5	26503	HP:0002908	Conjugated hyperbilirubinemia
OMIM:269920	SLC17A5	26503	HP:0000218	High palate
OMIM:269920	SLC17A5	26503	HP:0000639	Nystagmus
OMIM:269920	SLC17A5	26503	HP:0002680	J-shaped sella turcica
OMIM:269920	SLC17A5	26503	HP:0002059	Cerebral atrophy
OMIM:269920	SLC17A5	26503	HP:0000007	Autosomal recessive inheritance
OMIM:269920	SLC17A5	26503	HP:0001744	Splenomegaly
OMIM:269920	SLC17A5	26503	HP:0000212	Gingival overgrowth
OMIM:269920	SLC17A5	26503	HP:0001622	Premature birth
OMIM:269920	SLC17A5	26503	HP:0001789	Hydrops fetalis
OMIM:269920	SLC17A5	26503	HP:0001263	Global developmental delay
OMIM:269920	SLC17A5	26503	HP:0000463	Anteverted nares
OMIM:269920	SLC17A5	26503	HP:0000280	Coarse facial features
OMIM:269920	SLC17A5	26503	HP:0000765	Abnormality of the thorax
OMIM:269920	SLC17A5	26503	HP:0000938	Osteopenia
OMIM:269920	SLC17A5	26503	HP:0001922	Vacuolated lymphocytes
OMIM:268305	EIF4A3	9775	HP:0000308	Microretrognathia
OMIM:268305	EIF4A3	9775	HP:0000411	Protruding ear
OMIM:268305	EIF4A3	9775	HP:0001762	Talipes equinovarus
OMIM:268305	EIF4A3	9775	HP:0008744	Abnormality of the aryepiglottic fold
OMIM:268305	EIF4A3	9775	HP:0009623	Proximal placement of thumb
OMIM:268305	EIF4A3	9775	HP:0009778	Short thumb
OMIM:268305	EIF4A3	9775	HP:0004322	Short stature
OMIM:268305	EIF4A3	9775	HP:0004209	Clinodactyly of the 5th finger
OMIM:268305	EIF4A3	9775	HP:0011968	Feeding difficulties
OMIM:268305	EIF4A3	9775	HP:0001263	Global developmental delay
OMIM:268305	EIF4A3	9775	HP:0100499	Tibial deviation of toes
OMIM:268305	EIF4A3	9775	HP:0000193	Bifid uvula
OMIM:268305	EIF4A3	9775	HP:0002984	Hypoplasia of the radius
OMIM:268305	EIF4A3	9775	HP:0006355	Agenesis of mandibular central incisor
OMIM:268305	EIF4A3	9775	HP:0010752	Cleft mandible
OMIM:268305	EIF4A3	9775	HP:0000448	Prominent nose
OMIM:268305	EIF4A3	9775	HP:0000369	Low-set ears
OMIM:268305	EIF4A3	9775	HP:0009094	Cleft lower alveolar ridge
OMIM:268305	EIF4A3	9775	HP:0000007	Autosomal recessive inheritance
OMIM:268305	EIF4A3	9775	HP:0001608	Abnormality of the voice
OMIM:268305	EIF4A3	9775	HP:0008753	Aplasia of the epiglottis
OMIM:268305	EIF4A3	9775	HP:0000201	Pierre-Robin sequence
OMIM:268305	EIF4A3	9775	HP:0000218	High palate
OMIM:268305	EIF4A3	9775	HP:0009486	Radial deviation of the hand
OMIM:268305	EIF4A3	9775	HP:0009803	Short phalanx of finger
OMIM:268305	EIF4A3	9775	HP:0010049	Short metacarpal
OMIM:268305	EIF4A3	9775	HP:0000160	Narrow mouth
ORPHA:79409	COL7A1	1294	HP:0000171	Microglossia
ORPHA:79409	COL7A1	1294	HP:0200097	Oral mucosal blisters
ORPHA:79409	COL7A1	1294	HP:0002043	Esophageal stricture
ORPHA:79409	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:79409	COL7A1	1294	HP:0000160	Narrow mouth
ORPHA:79409	COL7A1	1294	HP:0001056	Milia
ORPHA:79409	COL7A1	1294	HP:0001371	Flexion contracture
ORPHA:79409	COL7A1	1294	HP:0012473	Tongue atrophy
ORPHA:79409	COL7A1	1294	HP:0200020	Corneal erosion
ORPHA:79409	COL7A1	1294	HP:0000142	Abnormality of the vagina
ORPHA:79409	COL7A1	1294	HP:0010296	Ankyloglossia
ORPHA:79409	COL7A1	1294	HP:0002015	Dysphagia
ORPHA:79409	COL7A1	1294	HP:0200041	Skin erosion
ORPHA:79409	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:79409	COL7A1	1294	HP:0001903	Anemia
OMIM:613657	IDH2	3418	HP:0000006	Autosomal dominant inheritance
OMIM:613657	IDH2	3418	HP:0001252	Muscular hypotonia
OMIM:613657	IDH2	3418	HP:0012321	D-2-hydroxyglutaric aciduria
OMIM:613657	IDH2	3418	HP:0001250	Seizures
OMIM:613657	IDH2	3418	HP:0001263	Global developmental delay
OMIM:613657	IDH2	3418	HP:0001638	Cardiomyopathy
OMIM:616079	ITM2B	9445	HP:0000556	Retinal dystrophy
OMIM:616079	ITM2B	9445	HP:0000613	Photophobia
OMIM:616079	ITM2B	9445	HP:0000543	Optic disc pallor
OMIM:616079	ITM2B	9445	HP:0000006	Autosomal dominant inheritance
OMIM:180750	TWIST1	7291	HP:0000486	Strabismus
OMIM:180750	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:180750	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:180750	TWIST1	7291	HP:0010055	Broad hallux
OMIM:180750	TWIST1	7291	HP:0010066	Duplication of phalanx of hallux
OMIM:180750	TWIST1	7291	HP:0000586	Shallow orbits
OMIM:180750	TWIST1	7291	HP:0003189	Long nose
OMIM:180750	TWIST1	7291	HP:0000272	Malar flattening
OMIM:180750	TWIST1	7291	HP:0000316	Hypertelorism
OMIM:180750	TWIST1	7291	HP:0012368	Flat face
OMIM:180750	TWIST1	7291	HP:0000460	Narrow nose
OMIM:614871	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614871	PEX10	5192	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX10	5192	HP:0000505	Visual impairment
OMIM:614871	PEX10	5192	HP:0000641	Dysmetric saccades
OMIM:614871	PEX10	5192	HP:0001251	Ataxia
OMIM:614871	PEX10	5192	HP:0000556	Retinal dystrophy
OMIM:614871	PEX10	5192	HP:0001260	Dysarthria
OMIM:614871	PEX10	5192	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX10	5192	HP:0003828	Variable expressivity
OMIM:614871	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX10	5192	HP:0000639	Nystagmus
OMIM:614871	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614871	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX10	5192	HP:0003677	Slow progression
OMIM:173200	CARD14	79092	HP:0000982	Palmoplantar keratoderma
OMIM:173200	CARD14	79092	HP:0000006	Autosomal dominant inheritance
OMIM:173200	CARD14	79092	HP:0008392	Subungual hyperkeratosis
ORPHA:89841	COL7A1	1294	HP:0001030	Fragile skin
ORPHA:89841	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:89841	COL7A1	1294	HP:0001056	Milia
ORPHA:89841	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:89841	COL7A1	1294	HP:0200037	Skin vesicle
OMIM:613501	CD79A	973	HP:0000403	Recurrent otitis media
OMIM:613501	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:613501	CD79A	973	HP:0002014	Diarrhea
OMIM:613501	CD79A	973	HP:0001508	Failure to thrive
OMIM:613501	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:613501	CD79A	973	HP:0002837	Recurrent bronchitis
OMIM:613501	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:300622	C1GALT1C1	29071	HP:0001877	Abnormality of erythrocytes
OMIM:300622	C1GALT1C1	29071	HP:0002960	Autoimmunity
OMIM:272300	SUOX	6821	HP:0002213	Fine hair
OMIM:272300	SUOX	6821	HP:0001251	Ataxia
OMIM:272300	SUOX	6821	HP:0002301	Hemiplegia
OMIM:272300	SUOX	6821	HP:0008947	Infantile muscular hypotonia
OMIM:272300	SUOX	6821	HP:0007325	Generalized dystonia
OMIM:272300	SUOX	6821	HP:0001266	Choreoathetosis
OMIM:272300	SUOX	6821	HP:0001522	Death in infancy
OMIM:272300	SUOX	6821	HP:0000713	Agitation
OMIM:272300	SUOX	6821	HP:0000964	Eczema
OMIM:272300	SUOX	6821	HP:0001263	Global developmental delay
OMIM:272300	SUOX	6821	HP:0001290	Generalized hypotonia
OMIM:272300	SUOX	6821	HP:0003643	Sulfite oxidase deficiency
OMIM:272300	SUOX	6821	HP:0001250	Seizures
OMIM:272300	SUOX	6821	HP:0001083	Ectopia lentis
OMIM:272300	SUOX	6821	HP:0000007	Autosomal recessive inheritance
OMIM:272300	SUOX	6821	HP:0000684	Delayed eruption of teeth
OMIM:272300	SUOX	6821	HP:0003359	Decreased urinary sulfate
OMIM:272300	SUOX	6821	HP:0011942	Increased urinary sulfite
OMIM:272300	SUOX	6821	HP:0001276	Hypertonia
OMIM:614175	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:614175	B9D2	80776	HP:0000960	Sacral dimple
OMIM:614175	B9D2	80776	HP:0100259	Postaxial polydactyly
OMIM:614175	B9D2	80776	HP:0000107	Renal cyst
OMIM:614175	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:301830	UBA1	7317	HP:0001371	Flexion contracture
OMIM:301830	UBA1	7317	HP:0001419	X-linked recessive inheritance
OMIM:301830	UBA1	7317	HP:0001308	Tongue fasciculations
OMIM:301830	UBA1	7317	HP:0007269	Spinal muscular atrophy
OMIM:301830	UBA1	7317	HP:0006829	Severe muscular hypotonia
OMIM:301830	UBA1	7317	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301830	UBA1	7317	HP:0000054	Micropenis
OMIM:301830	UBA1	7317	HP:0010628	Facial palsy
OMIM:301830	UBA1	7317	HP:0000023	Inguinal hernia
OMIM:301830	UBA1	7317	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:301830	UBA1	7317	HP:0003198	Myopathy
OMIM:301830	UBA1	7317	HP:0000508	Ptosis
OMIM:301830	UBA1	7317	HP:0000028	Cryptorchidism
OMIM:301830	UBA1	7317	HP:0000347	Micrognathia
OMIM:301830	UBA1	7317	HP:0002804	Arthrogryposis multiplex congenita
OMIM:301830	UBA1	7317	HP:0002398	Degeneration of anterior horn cells
OMIM:301830	UBA1	7317	HP:0002650	Scoliosis
OMIM:301830	UBA1	7317	HP:0002058	Myopathic facies
OMIM:301830	UBA1	7317	HP:0002828	Multiple joint contractures
OMIM:301830	UBA1	7317	HP:0001284	Areflexia
OMIM:301830	UBA1	7317	HP:0001558	Decreased fetal movement
OMIM:301830	UBA1	7317	HP:0000047	Hypospadias
OMIM:313400	TRAPPC2	6399	HP:0002812	Coxa vara
OMIM:313400	TRAPPC2	6399	HP:0001419	X-linked recessive inheritance
OMIM:313400	TRAPPC2	6399	HP:0002808	Kyphosis
OMIM:313400	TRAPPC2	6399	HP:0003521	Disproportionate short-trunk short stature
OMIM:313400	TRAPPC2	6399	HP:0001376	Limitation of joint mobility
OMIM:313400	TRAPPC2	6399	HP:0000926	Platyspondyly
OMIM:313400	TRAPPC2	6399	HP:0002866	Hypoplastic iliac wing
OMIM:313400	TRAPPC2	6399	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate
OMIM:313400	TRAPPC2	6399	HP:0002938	Lumbar hyperlordosis
OMIM:313400	TRAPPC2	6399	HP:0007759	Opacification of the corneal stroma
OMIM:313400	TRAPPC2	6399	HP:0001552	Barrel-shaped chest
OMIM:313400	TRAPPC2	6399	HP:0002829	Arthralgia
OMIM:313400	TRAPPC2	6399	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:313400	TRAPPC2	6399	HP:0010582	Irregular epiphyses
OMIM:313400	TRAPPC2	6399	HP:0002650	Scoliosis
OMIM:313400	TRAPPC2	6399	HP:0008843	Hip osteoarthritis
OMIM:313400	TRAPPC2	6399	HP:0000914	Shield chest
OMIM:313400	TRAPPC2	6399	HP:0100864	Short femoral neck
OMIM:313400	TRAPPC2	6399	HP:0000470	Short neck
OMIM:313400	TRAPPC2	6399	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:151210	COL2A1	1280	HP:0000470	Short neck
OMIM:151210	COL2A1	1280	HP:0000883	Thin ribs
OMIM:151210	COL2A1	1280	HP:0000773	Short ribs
OMIM:151210	COL2A1	1280	HP:0001538	Protuberant abdomen
OMIM:151210	COL2A1	1280	HP:0005451	Decreased cranial base ossification
OMIM:151210	COL2A1	1280	HP:0004591	Disc-like vertebral bodies
OMIM:151210	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:151210	COL2A1	1280	HP:0000774	Narrow chest
OMIM:151210	COL2A1	1280	HP:0000256	Macrocephaly
OMIM:151210	COL2A1	1280	HP:0003021	Metaphyseal cupping
OMIM:151210	COL2A1	1280	HP:0000946	Hypoplastic ilia
OMIM:151210	COL2A1	1280	HP:0000280	Coarse facial features
OMIM:151210	COL2A1	1280	HP:0003026	Short long bone
OMIM:151210	COL2A1	1280	HP:0003175	Hypoplastic ischia
OMIM:151210	COL2A1	1280	HP:0008921	Neonatal short-limb short stature
OMIM:151210	COL2A1	1280	HP:0003173	Hypoplastic pubic bone
OMIM:151210	COL2A1	1280	HP:0004565	Severe platyspondyly
OMIM:151210	COL2A1	1280	HP:0004298	Abnormality of the abdominal wall
OMIM:151210	COL2A1	1280	HP:0003180	Flat acetabular roof
OMIM:151210	COL2A1	1280	HP:0005716	Lethal skeletal dysplasia
OMIM:151210	COL2A1	1280	HP:0009826	Limb undergrowth
OMIM:151210	COL2A1	1280	HP:0200083	Severe limb shortening
OMIM:613307	TPRN	286262	HP:0000408	Progressive sensorineural hearing impairment
OMIM:613307	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613307	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TPRN	286262	HP:0000750	Delayed speech and language development
ORPHA:79237	GALK1	2584	HP:0004915	Impairment of galactose metabolism
ORPHA:79237	GALK1	2584	HP:0000518	Cataract
OMIM:182290	RAI1	10743	HP:0003124	Hypercholesterolemia
OMIM:182290	RAI1	10743	HP:0004322	Short stature
OMIM:182290	RAI1	10743	HP:0001627	Abnormal heart morphology
OMIM:182290	RAI1	10743	HP:0003745	Sporadic
OMIM:182290	RAI1	10743	HP:0007328	Impaired pain sensation
OMIM:182290	RAI1	10743	HP:0000283	Broad face
OMIM:182290	RAI1	10743	HP:0002019	Constipation
OMIM:182290	RAI1	10743	HP:0000733	Stereotypy
OMIM:182290	RAI1	10743	HP:0002650	Scoliosis
OMIM:182290	RAI1	10743	HP:0008609	Morphological abnormality of the middle ear
OMIM:182290	RAI1	10743	HP:0000220	Velopharyngeal insufficiency
OMIM:182290	RAI1	10743	HP:0012210	Abnormal renal morphology
OMIM:182290	RAI1	10743	HP:0000752	Hyperactivity
OMIM:182290	RAI1	10743	HP:0001156	Brachydactyly
OMIM:182290	RAI1	10743	HP:0000431	Wide nasal bridge
OMIM:182290	RAI1	10743	HP:0001263	Global developmental delay
OMIM:182290	RAI1	10743	HP:0001609	Hoarse voice
OMIM:182290	RAI1	10743	HP:0004279	Short palm
OMIM:182290	RAI1	10743	HP:0000365	Hearing impairment
OMIM:182290	RAI1	10743	HP:0000164	Abnormality of the dentition
OMIM:182290	RAI1	10743	HP:0000742	Self-mutilation
OMIM:182290	RAI1	10743	HP:0005607	Abnormality of the tracheobronchial system
OMIM:182290	RAI1	10743	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:182290	RAI1	10743	HP:0000356	Abnormality of the outer ear
OMIM:182290	RAI1	10743	HP:0000490	Deeply set eye
OMIM:182290	RAI1	10743	HP:0001284	Areflexia
OMIM:182290	RAI1	10743	HP:0002353	EEG abnormality
OMIM:182290	RAI1	10743	HP:0000006	Autosomal dominant inheritance
OMIM:182290	RAI1	10743	HP:0000303	Mandibular prognathia
OMIM:182290	RAI1	10743	HP:0001169	Broad palm
OMIM:182290	RAI1	10743	HP:0001763	Pes planus
OMIM:182290	RAI1	10743	HP:0002155	Hypertriglyceridemia
OMIM:182290	RAI1	10743	HP:0001250	Seizures
OMIM:182290	RAI1	10743	HP:0002715	Abnormality of the immune system
OMIM:182290	RAI1	10743	HP:0011800	Midface retrusion
OMIM:182290	RAI1	10743	HP:0012168	Head-banging
OMIM:182290	RAI1	10743	HP:0001265	Hyporeflexia
OMIM:182290	RAI1	10743	HP:0000272	Malar flattening
OMIM:182290	RAI1	10743	HP:0000664	Synophrys
OMIM:182290	RAI1	10743	HP:0010780	Hyperacusis
OMIM:182290	RAI1	10743	HP:0010803	Everted upper lip vermilion
OMIM:182290	RAI1	10743	HP:0000750	Delayed speech and language development
OMIM:182290	RAI1	10743	HP:0000820	Abnormality of the thyroid gland
OMIM:182290	RAI1	10743	HP:0001249	Intellectual disability
OMIM:182290	RAI1	10743	HP:0001600	Abnormality of the larynx
OMIM:182290	RAI1	10743	HP:0000248	Brachycephaly
OMIM:182290	RAI1	10743	HP:0002119	Ventriculomegaly
OMIM:182290	RAI1	10743	HP:0002360	Sleep disturbance
OMIM:182290	RAI1	10743	HP:0001290	Generalized hypotonia
ORPHA:1662	LMNA	4000	HP:0004492	Widely patent fontanelles and sutures
ORPHA:1662	LMNA	4000	HP:0030053	Stiff skin
ORPHA:1662	LMNA	4000	HP:0025354	Abnormal cellular phenotype
ORPHA:1662	LMNA	4000	HP:0007543	Epidermal hyperkeratosis
ORPHA:1662	LMNA	4000	HP:0001511	Intrauterine growth retardation
ORPHA:1662	LMNA	4000	HP:0004334	Dermal atrophy
ORPHA:1662	LMNA	4000	HP:0200041	Skin erosion
ORPHA:1662	LMNA	4000	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:1662	LMNA	4000	HP:0012745	Short palpebral fissure
ORPHA:1662	LMNA	4000	HP:0000347	Micrognathia
ORPHA:1662	LMNA	4000	HP:0001196	Short umbilical cord
ORPHA:1662	LMNA	4000	HP:0002828	Multiple joint contractures
ORPHA:1662	LMNA	4000	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
ORPHA:1662	LMNA	4000	HP:0005253	Increased anterioposterior diameter of thorax
ORPHA:1662	LMNA	4000	HP:0001643	Patent ductus arteriosus
ORPHA:1662	LMNA	4000	HP:0000938	Osteopenia
ORPHA:1662	LMNA	4000	HP:0000369	Low-set ears
ORPHA:1662	LMNA	4000	HP:0001558	Decreased fetal movement
ORPHA:1662	LMNA	4000	HP:0006266	Small placenta
ORPHA:1662	LMNA	4000	HP:0010219	Structural foot deformity
ORPHA:1662	LMNA	4000	HP:0000621	Entropion
ORPHA:1662	LMNA	4000	HP:0002089	Pulmonary hypoplasia
ORPHA:1662	LMNA	4000	HP:0000883	Thin ribs
ORPHA:1662	LMNA	4000	HP:0005595	Generalized hyperkeratosis
ORPHA:1662	LMNA	4000	HP:0200102	Sparse or absent eyelashes
ORPHA:1662	LMNA	4000	HP:0045075	Sparse eyebrow
ORPHA:1662	LMNA	4000	HP:0040189	Scaling skin
ORPHA:1662	LMNA	4000	HP:0000160	Narrow mouth
ORPHA:1662	LMNA	4000	HP:0000494	Downslanted palpebral fissures
ORPHA:1662	LMNA	4000	HP:0000176	Submucous cleft hard palate
ORPHA:1662	LMNA	4000	HP:0008070	Sparse hair
ORPHA:1662	LMNA	4000	HP:0000506	Telecanthus
ORPHA:1662	LMNA	4000	HP:0006645	Thin clavicles
ORPHA:1662	LMNA	4000	HP:0000316	Hypertelorism
ORPHA:1662	LMNA	4000	HP:0010648	Dermal translucency
ORPHA:1662	LMNA	4000	HP:0004331	Decreased skull ossification
ORPHA:1662	LMNA	4000	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1662	LMNA	4000	HP:0006710	Aplasia/Hypoplasia of the clavicles
ORPHA:1662	LMNA	4000	HP:0012478	Temporomandibular joint ankylosis
ORPHA:1662	LMNA	4000	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
ORPHA:1662	ZMPSTE24	10269	HP:0004492	Widely patent fontanelles and sutures
ORPHA:1662	ZMPSTE24	10269	HP:0030053	Stiff skin
ORPHA:1662	ZMPSTE24	10269	HP:0025354	Abnormal cellular phenotype
ORPHA:1662	ZMPSTE24	10269	HP:0007543	Epidermal hyperkeratosis
ORPHA:1662	ZMPSTE24	10269	HP:0001511	Intrauterine growth retardation
ORPHA:1662	ZMPSTE24	10269	HP:0004334	Dermal atrophy
ORPHA:1662	ZMPSTE24	10269	HP:0200041	Skin erosion
ORPHA:1662	ZMPSTE24	10269	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:1662	ZMPSTE24	10269	HP:0012745	Short palpebral fissure
ORPHA:1662	ZMPSTE24	10269	HP:0000347	Micrognathia
ORPHA:1662	ZMPSTE24	10269	HP:0001196	Short umbilical cord
ORPHA:1662	ZMPSTE24	10269	HP:0002828	Multiple joint contractures
ORPHA:1662	ZMPSTE24	10269	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
ORPHA:1662	ZMPSTE24	10269	HP:0005253	Increased anterioposterior diameter of thorax
ORPHA:1662	ZMPSTE24	10269	HP:0001643	Patent ductus arteriosus
ORPHA:1662	ZMPSTE24	10269	HP:0000938	Osteopenia
ORPHA:1662	ZMPSTE24	10269	HP:0000369	Low-set ears
ORPHA:1662	ZMPSTE24	10269	HP:0001558	Decreased fetal movement
ORPHA:1662	ZMPSTE24	10269	HP:0006266	Small placenta
ORPHA:1662	ZMPSTE24	10269	HP:0010219	Structural foot deformity
ORPHA:1662	ZMPSTE24	10269	HP:0000621	Entropion
ORPHA:1662	ZMPSTE24	10269	HP:0002089	Pulmonary hypoplasia
ORPHA:1662	ZMPSTE24	10269	HP:0000883	Thin ribs
ORPHA:1662	ZMPSTE24	10269	HP:0005595	Generalized hyperkeratosis
ORPHA:1662	ZMPSTE24	10269	HP:0200102	Sparse or absent eyelashes
ORPHA:1662	ZMPSTE24	10269	HP:0045075	Sparse eyebrow
ORPHA:1662	ZMPSTE24	10269	HP:0040189	Scaling skin
ORPHA:1662	ZMPSTE24	10269	HP:0000160	Narrow mouth
ORPHA:1662	ZMPSTE24	10269	HP:0000494	Downslanted palpebral fissures
ORPHA:1662	ZMPSTE24	10269	HP:0000176	Submucous cleft hard palate
ORPHA:1662	ZMPSTE24	10269	HP:0008070	Sparse hair
ORPHA:1662	ZMPSTE24	10269	HP:0000506	Telecanthus
ORPHA:1662	ZMPSTE24	10269	HP:0006645	Thin clavicles
ORPHA:1662	ZMPSTE24	10269	HP:0000316	Hypertelorism
ORPHA:1662	ZMPSTE24	10269	HP:0010648	Dermal translucency
ORPHA:1662	ZMPSTE24	10269	HP:0004331	Decreased skull ossification
ORPHA:1662	ZMPSTE24	10269	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1662	ZMPSTE24	10269	HP:0006710	Aplasia/Hypoplasia of the clavicles
ORPHA:1662	ZMPSTE24	10269	HP:0012478	Temporomandibular joint ankylosis
ORPHA:1662	ZMPSTE24	10269	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
OMIM:615789	CRIPT	9419	HP:0002719	Recurrent infections
OMIM:615789	CRIPT	9419	HP:0002007	Frontal bossing
OMIM:615789	CRIPT	9419	HP:0004823	Anisopoikilocytosis
OMIM:615789	CRIPT	9419	HP:0000506	Telecanthus
OMIM:615789	CRIPT	9419	HP:0005280	Depressed nasal bridge
OMIM:615789	CRIPT	9419	HP:0000007	Autosomal recessive inheritance
OMIM:615789	CRIPT	9419	HP:0000535	Sparse and thin eyebrow
OMIM:615789	CRIPT	9419	HP:0005590	Spotty hypopigmentation
OMIM:615789	CRIPT	9419	HP:0012736	Profound global developmental delay
OMIM:615789	CRIPT	9419	HP:0000463	Anteverted nares
OMIM:615789	CRIPT	9419	HP:0001903	Anemia
OMIM:615789	CRIPT	9419	HP:0001762	Talipes equinovarus
OMIM:615789	CRIPT	9419	HP:0009882	Short distal phalanx of finger
OMIM:615789	CRIPT	9419	HP:0001156	Brachydactyly
OMIM:615789	CRIPT	9419	HP:0011927	Short digit
OMIM:615789	CRIPT	9419	HP:0001883	Talipes
OMIM:615789	CRIPT	9419	HP:0000348	High forehead
OMIM:615789	CRIPT	9419	HP:0000520	Proptosis
OMIM:258870	OAT	4942	HP:0000545	Myopia
OMIM:258870	OAT	4942	HP:0003457	EMG abnormality
OMIM:258870	OAT	4942	HP:0000533	Chorioretinal atrophy
OMIM:258870	OAT	4942	HP:0000618	Blindness
OMIM:258870	OAT	4942	HP:0003701	Proximal muscle weakness
OMIM:258870	OAT	4942	HP:0000662	Nyctalopia
OMIM:258870	OAT	4942	HP:0007787	Posterior subcapsular cataract
OMIM:258870	OAT	4942	HP:0000007	Autosomal recessive inheritance
OMIM:258870	OAT	4942	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:609541	KLC2	64837	HP:0001270	Motor delay
OMIM:609541	KLC2	64837	HP:0003676	Progressive
OMIM:609541	KLC2	64837	HP:0000975	Hyperhidrosis
OMIM:609541	KLC2	64837	HP:0002267	Exaggerated startle response
OMIM:609541	KLC2	64837	HP:0007054	Hyperreflexia proximally
OMIM:609541	KLC2	64837	HP:0007002	Motor axonal neuropathy
OMIM:609541	KLC2	64837	HP:0000007	Autosomal recessive inheritance
OMIM:609541	KLC2	64837	HP:0000543	Optic disc pallor
OMIM:609541	KLC2	64837	HP:0002650	Scoliosis
OMIM:609541	KLC2	64837	HP:0000648	Optic atrophy
OMIM:609541	KLC2	64837	HP:0003693	Distal amyotrophy
OMIM:609541	KLC2	64837	HP:0002808	Kyphosis
OMIM:609541	KLC2	64837	HP:0003390	Sensory axonal neuropathy
OMIM:609541	KLC2	64837	HP:0001260	Dysarthria
OMIM:609541	KLC2	64837	HP:0001371	Flexion contracture
OMIM:609541	KLC2	64837	HP:0001761	Pes cavus
OMIM:609541	KLC2	64837	HP:0001258	Spastic paraplegia
OMIM:609541	KLC2	64837	HP:0001265	Hyporeflexia
OMIM:617253	NSMCE2	286053	HP:0000308	Microretrognathia
OMIM:617253	NSMCE2	286053	HP:0001635	Congestive heart failure
OMIM:617253	NSMCE2	286053	HP:0010609	Skin tags
OMIM:617253	NSMCE2	286053	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:617253	NSMCE2	286053	HP:0000007	Autosomal recessive inheritance
OMIM:617253	NSMCE2	286053	HP:0004953	Dilatation of abdominal aorta
OMIM:617253	NSMCE2	286053	HP:0010579	Cone-shaped epiphysis
OMIM:617253	NSMCE2	286053	HP:0003076	Glycosuria
OMIM:617253	NSMCE2	286053	HP:0000956	Acanthosis nigricans
OMIM:617253	NSMCE2	286053	HP:0001714	Ventricular hypertrophy
OMIM:617253	NSMCE2	286053	HP:0003100	Slender long bone
OMIM:617253	NSMCE2	286053	HP:0000541	Retinal detachment
OMIM:617253	NSMCE2	286053	HP:0000833	Glucose intolerance
OMIM:617253	NSMCE2	286053	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:617253	NSMCE2	286053	HP:0001735	Acute pancreatitis
OMIM:617253	NSMCE2	286053	HP:0000822	Hypertension
OMIM:617253	NSMCE2	286053	HP:0000252	Microcephaly
OMIM:617253	NSMCE2	286053	HP:0001397	Hepatic steatosis
OMIM:617253	NSMCE2	286053	HP:0003016	Metaphyseal widening
ORPHA:429	FGFR3	2261	HP:0011405	Childhood onset short-limb short stature
ORPHA:429	FGFR3	2261	HP:0001831	Short toe
ORPHA:429	FGFR3	2261	HP:0002652	Skeletal dysplasia
ORPHA:429	FGFR3	2261	HP:0002823	Abnormality of femur morphology
ORPHA:429	FGFR3	2261	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:429	FGFR3	2261	HP:0000944	Abnormality of the metaphysis
ORPHA:429	FGFR3	2261	HP:0005692	Joint hyperflexibility
ORPHA:429	FGFR3	2261	HP:0009811	Abnormality of the elbow
ORPHA:429	FGFR3	2261	HP:0002970	Genu varum
ORPHA:429	FGFR3	2261	HP:0002983	Micromelia
ORPHA:429	FGFR3	2261	HP:0001156	Brachydactyly
ORPHA:429	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
OMIM:614669	PLCB4	5332	HP:0000358	Posteriorly rotated ears
OMIM:614669	PLCB4	5332	HP:0000369	Low-set ears
OMIM:614669	PLCB4	5332	HP:0000175	Cleft palate
OMIM:614669	PLCB4	5332	HP:0000678	Dental crowding
OMIM:614669	PLCB4	5332	HP:0002104	Apnea
OMIM:614669	PLCB4	5332	HP:0000007	Autosomal recessive inheritance
OMIM:614669	PLCB4	5332	HP:0000006	Autosomal dominant inheritance
OMIM:614669	PLCB4	5332	HP:0025267	Snoring
OMIM:614669	PLCB4	5332	HP:0008559	Hypoplastic superior helix
OMIM:614669	PLCB4	5332	HP:0000689	Dental malocclusion
OMIM:614669	PLCB4	5332	HP:0008537	Cleft at the superior portion of the pinna
OMIM:614669	PLCB4	5332	HP:0007627	Mandibular condyle aplasia
OMIM:614669	PLCB4	5332	HP:0004453	Overfolding of the superior helices
OMIM:614669	PLCB4	5332	HP:0009088	Speech articulation difficulties
OMIM:614669	PLCB4	5332	HP:0007628	Mandibular condyle hypoplasia
OMIM:614669	PLCB4	5332	HP:0000311	Round face
ORPHA:137831	OPHN1	4983	HP:0000486	Strabismus
ORPHA:137831	OPHN1	4983	HP:0001250	Seizures
ORPHA:137831	OPHN1	4983	HP:0001263	Global developmental delay
ORPHA:137831	OPHN1	4983	HP:0001249	Intellectual disability
ORPHA:137831	OPHN1	4983	HP:0001321	Cerebellar hypoplasia
ORPHA:137831	OPHN1	4983	HP:0001310	Dysmetria
ORPHA:137831	OPHN1	4983	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:137831	OPHN1	4983	HP:0002167	Neurological speech impairment
ORPHA:137831	OPHN1	4983	HP:0006951	Retrocerebellar cyst
ORPHA:137831	OPHN1	4983	HP:0001252	Muscular hypotonia
ORPHA:137831	OPHN1	4983	HP:0000717	Autism
ORPHA:137831	OPHN1	4983	HP:0007065	Disorganization of the anterior cerebellar vermis
OMIM:113100	GDF5	8200	HP:0009463	Ulnar deviation of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0010034	Short 1st metacarpal
OMIM:113100	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:113100	GDF5	8200	HP:0009495	Pseudoepiphyses of the 2nd finger
OMIM:113100	GDF5	8200	HP:0006206	Hypersegmentation of proximal phalanx of second finger
OMIM:113100	GDF5	8200	HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand
OMIM:113100	GDF5	8200	HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger
OMIM:113100	GDF5	8200	HP:0005819	Short middle phalanx of finger
OMIM:113100	GDF5	8200	HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger
OMIM:113100	GDF5	8200	HP:0004322	Short stature
OMIM:113100	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
OMIM:113100	GDF5	8200	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:113100	GDF5	8200	HP:0009536	Short 2nd finger
OMIM:113100	GDF5	8200	HP:0001156	Brachydactyly
OMIM:113100	GDF5	8200	HP:0003067	Madelung deformity
OMIM:113100	GDF5	8200	HP:0009461	Short 3rd finger
OMIM:113100	GDF5	8200	HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger
OMIM:113100	GDF5	8200	HP:0011929	Hypersegmentation of proximal phalanx of third finger
OMIM:113100	GDF5	8200	HP:0010442	Polydactyly
OMIM:113100	GDF5	8200	HP:0009417	Pseudoepiphyses of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger
OMIM:113100	GDF5	8200	HP:0009436	Triangular shaped middle phalanx of the 3rd finger
OMIM:113100	GDF5	8200	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
OMIM:113100	GDF5	8200	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger
OMIM:131960	KRT5	3852	HP:0007438	Mottled pigmentation of the trunk and proximal extremities
OMIM:131960	KRT5	3852	HP:0002164	Nail dysplasia
OMIM:131960	KRT5	3852	HP:0008066	Abnormal blistering of the skin
OMIM:131960	KRT5	3852	HP:0008404	Nail dystrophy
OMIM:131960	KRT5	3852	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules
OMIM:131960	KRT5	3852	HP:0001805	Thick nail
OMIM:131960	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131960	KRT5	3852	HP:0007530	Punctate palmoplantar hyperkeratosis
OMIM:272430	CRLF1	9244	HP:0001763	Pes planus
OMIM:272430	CRLF1	9244	HP:0000218	High palate
OMIM:272430	CRLF1	9244	HP:0000463	Anteverted nares
OMIM:272430	CRLF1	9244	HP:0001181	Adducted thumb
OMIM:272430	CRLF1	9244	HP:0000347	Micrognathia
OMIM:272430	CRLF1	9244	HP:0100729	Large face
OMIM:272430	CRLF1	9244	HP:0001954	Episodic fever
OMIM:272430	CRLF1	9244	HP:0001611	Nasal speech
OMIM:272430	CRLF1	9244	HP:0001762	Talipes equinovarus
OMIM:272430	CRLF1	9244	HP:0000278	Retrognathia
OMIM:272430	CRLF1	9244	HP:0010628	Facial palsy
OMIM:272430	CRLF1	9244	HP:0002751	Kyphoscoliosis
OMIM:272430	CRLF1	9244	HP:0000445	Wide nose
OMIM:272430	CRLF1	9244	HP:0002987	Elbow flexion contracture
OMIM:272430	CRLF1	9244	HP:0009466	Radial deviation of finger
OMIM:272430	CRLF1	9244	HP:0000293	Full cheeks
OMIM:272430	CRLF1	9244	HP:0002179	Opisthotonus
OMIM:272430	CRLF1	9244	HP:0000670	Carious teeth
OMIM:272430	CRLF1	9244	HP:0004279	Short palm
OMIM:272430	CRLF1	9244	HP:0001377	Limited elbow extension
OMIM:272430	CRLF1	9244	HP:0001182	Tapered finger
OMIM:272430	CRLF1	9244	HP:0000470	Short neck
OMIM:272430	CRLF1	9244	HP:0008872	Feeding difficulties in infancy
OMIM:272430	CRLF1	9244	HP:0012385	Camptodactyly
OMIM:272430	CRLF1	9244	HP:0000343	Long philtrum
OMIM:272430	CRLF1	9244	HP:0002094	Dyspnea
OMIM:272430	CRLF1	9244	HP:0000369	Low-set ears
OMIM:272430	CRLF1	9244	HP:0005280	Depressed nasal bridge
OMIM:272430	CRLF1	9244	HP:0000007	Autosomal recessive inheritance
OMIM:272430	CRLF1	9244	HP:0000160	Narrow mouth
OMIM:272430	CRLF1	9244	HP:0000975	Hyperhidrosis
OMIM:300614	AIFM1	9131	HP:0002317	Unsteady gait
OMIM:300614	AIFM1	9131	HP:0001419	X-linked recessive inheritance
OMIM:300614	AIFM1	9131	HP:0001963	Abnormal speech discrimination
OMIM:300614	AIFM1	9131	HP:0003390	Sensory axonal neuropathy
OMIM:300614	AIFM1	9131	HP:0004454	Abnormal middle ear reflexes
OMIM:300614	AIFM1	9131	HP:0000365	Hearing impairment
OMIM:300614	AIFM1	9131	HP:0002936	Distal sensory impairment
OMIM:300614	AIFM1	9131	HP:0000360	Tinnitus
OMIM:147250	SHH	6469	HP:0003828	Variable expressivity
OMIM:147250	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:147250	SHH	6469	HP:0001360	Holoprosencephaly
OMIM:147250	SHH	6469	HP:0100789	Torus palatinus
OMIM:194080	WT1	7490	HP:0000061	Ambiguous genitalia, female
OMIM:194080	WT1	7490	HP:0001428	Somatic mutation
OMIM:194080	WT1	7490	HP:0000033	Ambiguous genitalia, male
OMIM:194080	WT1	7490	HP:0000037	Male pseudohermaphroditism
OMIM:194080	WT1	7490	HP:0002667	Nephroblastoma
OMIM:194080	WT1	7490	HP:0003774	Stage 5 chronic kidney disease
OMIM:194080	WT1	7490	HP:0001967	Diffuse mesangial sclerosis
OMIM:194080	WT1	7490	HP:0000112	Nephropathy
OMIM:194080	WT1	7490	HP:0010459	True hermaphroditism
OMIM:194080	WT1	7490	HP:0000822	Hypertension
OMIM:194080	WT1	7490	HP:0000149	Ovarian gonadoblastoma
OMIM:194080	WT1	7490	HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex
OMIM:194080	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
OMIM:194080	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:194080	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194080	WT1	7490	HP:0000776	Congenital diaphragmatic hernia
OMIM:194080	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:107600	BMS1	9790	HP:0004471	Aplasia cutis congenita over the scalp vertex
OMIM:107600	BMS1	9790	HP:0000007	Autosomal recessive inheritance
OMIM:107600	BMS1	9790	HP:0000006	Autosomal dominant inheritance
OMIM:615474	CACNA1D	776	HP:0001712	Left ventricular hypertrophy
OMIM:615474	CACNA1D	776	HP:0001263	Global developmental delay
OMIM:615474	CACNA1D	776	HP:0000006	Autosomal dominant inheritance
OMIM:615474	CACNA1D	776	HP:0000822	Hypertension
OMIM:615474	CACNA1D	776	HP:0003351	Decreased circulating renin level
OMIM:615474	CACNA1D	776	HP:0200114	Metabolic alkalosis
OMIM:615474	CACNA1D	776	HP:0002069	Generalized tonic-clonic seizures
OMIM:615474	CACNA1D	776	HP:0002900	Hypokalemia
OMIM:615474	CACNA1D	776	HP:0100021	Cerebral palsy
OMIM:240500	CD19	930	HP:0002850	IgM deficiency
OMIM:240500	CD19	930	HP:0001744	Splenomegaly
OMIM:240500	CD19	930	HP:0004315	IgG deficiency
OMIM:240500	CD19	930	HP:0006532	Recurrent pneumonia
OMIM:240500	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:240500	CD19	930	HP:0002716	Lymphadenopathy
OMIM:240500	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:240500	CD19	930	HP:0002014	Diarrhea
OMIM:240500	CD19	930	HP:0002720	IgA deficiency
OMIM:240500	CD19	930	HP:0002110	Bronchiectasis
OMIM:240500	CD19	930	HP:0002665	Lymphoma
OMIM:240500	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:240500	CD19	930	HP:0002240	Hepatomegaly
OMIM:240500	CD19	930	HP:0002960	Autoimmunity
OMIM:240500	CD19	930	HP:0002721	Immunodeficiency
OMIM:240500	CD19	930	HP:0000509	Conjunctivitis
OMIM:240500	CD19	930	HP:0002664	Neoplasm
OMIM:240500	CD19	930	HP:0000403	Recurrent otitis media
OMIM:240500	CD19	930	HP:0005435	Impaired T cell function
OMIM:240500	CD19	930	HP:0002837	Recurrent bronchitis
OMIM:240500	CD19	930	HP:0000006	Autosomal dominant inheritance
OMIM:240500	CD19	930	HP:0001287	Meningitis
OMIM:240500	TNFRSF13C	115650	HP:0002850	IgM deficiency
OMIM:240500	TNFRSF13C	115650	HP:0001744	Splenomegaly
OMIM:240500	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:240500	TNFRSF13C	115650	HP:0006532	Recurrent pneumonia
OMIM:240500	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:240500	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
OMIM:240500	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:240500	TNFRSF13C	115650	HP:0002014	Diarrhea
OMIM:240500	TNFRSF13C	115650	HP:0002720	IgA deficiency
OMIM:240500	TNFRSF13C	115650	HP:0002110	Bronchiectasis
OMIM:240500	TNFRSF13C	115650	HP:0002665	Lymphoma
OMIM:240500	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:240500	TNFRSF13C	115650	HP:0002240	Hepatomegaly
OMIM:240500	TNFRSF13C	115650	HP:0002960	Autoimmunity
OMIM:240500	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:240500	TNFRSF13C	115650	HP:0000509	Conjunctivitis
OMIM:240500	TNFRSF13C	115650	HP:0002664	Neoplasm
OMIM:240500	TNFRSF13C	115650	HP:0000403	Recurrent otitis media
OMIM:240500	TNFRSF13C	115650	HP:0005435	Impaired T cell function
OMIM:240500	TNFRSF13C	115650	HP:0002837	Recurrent bronchitis
OMIM:240500	TNFRSF13C	115650	HP:0000006	Autosomal dominant inheritance
OMIM:240500	TNFRSF13C	115650	HP:0001287	Meningitis
OMIM:240500	CR2	1380	HP:0002850	IgM deficiency
OMIM:240500	CR2	1380	HP:0001744	Splenomegaly
OMIM:240500	CR2	1380	HP:0004315	IgG deficiency
OMIM:240500	CR2	1380	HP:0006532	Recurrent pneumonia
OMIM:240500	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:240500	CR2	1380	HP:0002716	Lymphadenopathy
OMIM:240500	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:240500	CR2	1380	HP:0002014	Diarrhea
OMIM:240500	CR2	1380	HP:0002720	IgA deficiency
OMIM:240500	CR2	1380	HP:0002110	Bronchiectasis
OMIM:240500	CR2	1380	HP:0002665	Lymphoma
OMIM:240500	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:240500	CR2	1380	HP:0002240	Hepatomegaly
OMIM:240500	CR2	1380	HP:0002960	Autoimmunity
OMIM:240500	CR2	1380	HP:0002721	Immunodeficiency
OMIM:240500	CR2	1380	HP:0000509	Conjunctivitis
OMIM:240500	CR2	1380	HP:0002664	Neoplasm
OMIM:240500	CR2	1380	HP:0000403	Recurrent otitis media
OMIM:240500	CR2	1380	HP:0005435	Impaired T cell function
OMIM:240500	CR2	1380	HP:0002837	Recurrent bronchitis
OMIM:240500	CR2	1380	HP:0000006	Autosomal dominant inheritance
OMIM:240500	CR2	1380	HP:0001287	Meningitis
OMIM:240500	TNFRSF13B	23495	HP:0002850	IgM deficiency
OMIM:240500	TNFRSF13B	23495	HP:0001744	Splenomegaly
OMIM:240500	TNFRSF13B	23495	HP:0004315	IgG deficiency
OMIM:240500	TNFRSF13B	23495	HP:0006532	Recurrent pneumonia
OMIM:240500	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:240500	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
OMIM:240500	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:240500	TNFRSF13B	23495	HP:0002014	Diarrhea
OMIM:240500	TNFRSF13B	23495	HP:0002720	IgA deficiency
OMIM:240500	TNFRSF13B	23495	HP:0002110	Bronchiectasis
OMIM:240500	TNFRSF13B	23495	HP:0002665	Lymphoma
OMIM:240500	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:240500	TNFRSF13B	23495	HP:0002240	Hepatomegaly
OMIM:240500	TNFRSF13B	23495	HP:0002960	Autoimmunity
OMIM:240500	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:240500	TNFRSF13B	23495	HP:0000509	Conjunctivitis
OMIM:240500	TNFRSF13B	23495	HP:0002664	Neoplasm
OMIM:240500	TNFRSF13B	23495	HP:0000403	Recurrent otitis media
OMIM:240500	TNFRSF13B	23495	HP:0005435	Impaired T cell function
OMIM:240500	TNFRSF13B	23495	HP:0002837	Recurrent bronchitis
OMIM:240500	TNFRSF13B	23495	HP:0000006	Autosomal dominant inheritance
OMIM:240500	TNFRSF13B	23495	HP:0001287	Meningitis
OMIM:240500	ICOS	29851	HP:0002850	IgM deficiency
OMIM:240500	ICOS	29851	HP:0001744	Splenomegaly
OMIM:240500	ICOS	29851	HP:0004315	IgG deficiency
OMIM:240500	ICOS	29851	HP:0006532	Recurrent pneumonia
OMIM:240500	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:240500	ICOS	29851	HP:0002716	Lymphadenopathy
OMIM:240500	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:240500	ICOS	29851	HP:0002014	Diarrhea
OMIM:240500	ICOS	29851	HP:0002720	IgA deficiency
OMIM:240500	ICOS	29851	HP:0002110	Bronchiectasis
OMIM:240500	ICOS	29851	HP:0002665	Lymphoma
OMIM:240500	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:240500	ICOS	29851	HP:0002240	Hepatomegaly
OMIM:240500	ICOS	29851	HP:0002960	Autoimmunity
OMIM:240500	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:240500	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:240500	ICOS	29851	HP:0002664	Neoplasm
OMIM:240500	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:240500	ICOS	29851	HP:0005435	Impaired T cell function
OMIM:240500	ICOS	29851	HP:0002837	Recurrent bronchitis
OMIM:240500	ICOS	29851	HP:0000006	Autosomal dominant inheritance
OMIM:240500	ICOS	29851	HP:0001287	Meningitis
ORPHA:79087	LMNB2	84823	HP:0002960	Autoimmunity
ORPHA:79087	LMNB2	84823	HP:0003198	Myopathy
ORPHA:79087	LMNB2	84823	HP:0100827	Lymphocytosis
ORPHA:79087	LMNB2	84823	HP:0100578	Lipoatrophy
ORPHA:79087	LMNB2	84823	HP:0001249	Intellectual disability
ORPHA:79087	LMNB2	84823	HP:0001250	Seizures
ORPHA:79087	LMNB2	84823	HP:0005328	Progeroid facial appearance
ORPHA:79087	LMNB2	84823	HP:0000365	Hearing impairment
ORPHA:79087	LMNB2	84823	HP:0005421	Decreased serum complement C3
OMIM:617383	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:615885	RPL21	6144	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	RPL21	6144	HP:0001006	Hypotrichosis
OMIM:615885	RPL21	6144	HP:0200102	Sparse or absent eyelashes
OMIM:615885	RPL21	6144	HP:0000006	Autosomal dominant inheritance
ORPHA:293978	NFKB2	4791	HP:0004313	Decreased antibody level in blood
ORPHA:293978	NFKB2	4791	HP:0005364	Severe viral infections
ORPHA:293978	NFKB2	4791	HP:0001988	Recurrent hypoglycemia
ORPHA:293978	NFKB2	4791	HP:0008404	Nail dystrophy
ORPHA:293978	NFKB2	4791	HP:0002615	Hypotension
ORPHA:293978	NFKB2	4791	HP:0002110	Bronchiectasis
ORPHA:293978	NFKB2	4791	HP:0002837	Recurrent bronchitis
ORPHA:293978	NFKB2	4791	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:293978	NFKB2	4791	HP:0002902	Hyponatremia
ORPHA:293978	NFKB2	4791	HP:0100776	Recurrent pharyngitis
ORPHA:293978	NFKB2	4791	HP:0000403	Recurrent otitis media
ORPHA:293978	NFKB2	4791	HP:0001325	Hypoglycemic coma
ORPHA:293978	NFKB2	4791	HP:0006532	Recurrent pneumonia
ORPHA:293978	NFKB2	4791	HP:0008163	Decreased circulating cortisol level
ORPHA:293978	NFKB2	4791	HP:0012504	Abnormal size of pituitary gland
ORPHA:293978	NFKB2	4791	HP:0002920	Decreased circulating ACTH level
ORPHA:293978	NFKB2	4791	HP:0100803	Abnormality of the periungual region
ORPHA:293978	NFKB2	4791	HP:0011108	Recurrent sinusitis
ORPHA:293978	NFKB2	4791	HP:0005365	Severe B lymphocytopenia
ORPHA:293978	NFKB2	4791	HP:0012378	Fatigue
ORPHA:703	HLA-DRB1	3123	HP:0002719	Recurrent infections
ORPHA:703	HLA-DRB1	3123	HP:0003765	Psoriasiform dermatitis
ORPHA:703	HLA-DRB1	3123	HP:0000964	Eczema
ORPHA:703	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHA:703	HLA-DRB1	3123	HP:0000819	Diabetes mellitus
ORPHA:703	HLA-DRB1	3123	HP:0010783	Erythema
ORPHA:703	HLA-DRB1	3123	HP:0001824	Weight loss
ORPHA:703	HLA-DRB1	3123	HP:0012733	Macule
ORPHA:703	HLA-DRB1	3123	HP:0001025	Urticaria
ORPHA:703	HLA-DRB1	3123	HP:0008066	Abnormal blistering of the skin
ORPHA:703	HLA-DQB1	3119	HP:0002719	Recurrent infections
ORPHA:703	HLA-DQB1	3119	HP:0003765	Psoriasiform dermatitis
ORPHA:703	HLA-DQB1	3119	HP:0000964	Eczema
ORPHA:703	HLA-DQB1	3119	HP:0002960	Autoimmunity
ORPHA:703	HLA-DQB1	3119	HP:0000819	Diabetes mellitus
ORPHA:703	HLA-DQB1	3119	HP:0010783	Erythema
ORPHA:703	HLA-DQB1	3119	HP:0001824	Weight loss
ORPHA:703	HLA-DQB1	3119	HP:0012733	Macule
ORPHA:703	HLA-DQB1	3119	HP:0001025	Urticaria
ORPHA:703	HLA-DQB1	3119	HP:0008066	Abnormal blistering of the skin
OMIM:603965	TRPC6	7225	HP:0000097	Focal segmental glomerulosclerosis
OMIM:603965	TRPC6	7225	HP:0012622	Chronic kidney disease
OMIM:603965	TRPC6	7225	HP:0000100	Nephrotic syndrome
OMIM:603965	TRPC6	7225	HP:0000093	Proteinuria
OMIM:615721	FGF20	26281	HP:0001582	Redundant skin
OMIM:615721	FGF20	26281	HP:0002009	Potter facies
OMIM:615721	FGF20	26281	HP:0002089	Pulmonary hypoplasia
OMIM:615721	FGF20	26281	HP:0000007	Autosomal recessive inheritance
OMIM:611878	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:611878	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TPM1	7168	HP:0004756	Ventricular tachycardia
OMIM:607842	TSHZ1	10194	HP:0000405	Conductive hearing impairment
OMIM:607842	TSHZ1	10194	HP:0000413	Atresia of the external auditory canal
OMIM:607842	TSHZ1	10194	HP:0000006	Autosomal dominant inheritance
OMIM:607842	TSHZ1	10194	HP:0004409	Hyposmia
OMIM:101400	FGFR2	2263	HP:0011323	Cleft of chin
OMIM:101400	FGFR2	2263	HP:0001156	Brachydactyly
OMIM:101400	FGFR2	2263	HP:0003189	Long nose
OMIM:101400	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:101400	FGFR2	2263	HP:0003002	Breast carcinoma
OMIM:101400	FGFR2	2263	HP:0000175	Cleft palate
OMIM:101400	FGFR2	2263	HP:0001627	Abnormal heart morphology
OMIM:101400	FGFR2	2263	HP:0000508	Ptosis
OMIM:101400	FGFR2	2263	HP:0008551	Microtia
OMIM:101400	FGFR2	2263	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger
OMIM:101400	FGFR2	2263	HP:0000270	Delayed cranial suture closure
OMIM:101400	FGFR2	2263	HP:0002697	Parietal foramina
OMIM:101400	FGFR2	2263	HP:0000614	Abnormality of the nasolacrimal system
OMIM:101400	FGFR2	2263	HP:0000263	Oxycephaly
OMIM:101400	FGFR2	2263	HP:0001822	Hallux valgus
OMIM:101400	FGFR2	2263	HP:0000294	Low anterior hairline
OMIM:101400	FGFR2	2263	HP:0002678	Skull asymmetry
OMIM:101400	FGFR2	2263	HP:0000272	Malar flattening
OMIM:101400	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101400	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101400	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:101400	FGFR2	2263	HP:0009899	Prominent crus of helix
OMIM:101400	FGFR2	2263	HP:0000348	High forehead
OMIM:101400	FGFR2	2263	HP:0000586	Shallow orbits
OMIM:101400	FGFR2	2263	HP:0002974	Radioulnar synostosis
OMIM:101400	FGFR2	2263	HP:0000324	Facial asymmetry
OMIM:101400	FGFR2	2263	HP:0004322	Short stature
OMIM:101400	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
OMIM:101400	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:101400	FGFR2	2263	HP:0002342	Intellectual disability, moderate
OMIM:101400	FGFR2	2263	HP:0010104	Absent first metatarsal
OMIM:101400	FGFR2	2263	HP:0003828	Variable expressivity
OMIM:101400	FGFR2	2263	HP:0004425	Flat forehead
OMIM:101400	FGFR2	2263	HP:0012368	Flat face
OMIM:101400	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101400	FGFR2	2263	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:101400	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:101400	FGFR2	2263	HP:0001357	Plagiocephaly
OMIM:101400	FGFR2	2263	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger
OMIM:101400	FGFR2	2263	HP:0000460	Narrow nose
OMIM:101400	FGFR2	2263	HP:0000557	Buphthalmos
OMIM:101400	FGFR2	2263	HP:0000444	Convex nasal ridge
OMIM:101400	FGFR2	2263	HP:0000369	Low-set ears
OMIM:101400	FGFR2	2263	HP:0000189	Narrow palate
OMIM:101400	FGFR2	2263	HP:0000365	Hearing impairment
OMIM:101400	FGFR2	2263	HP:0000486	Strabismus
OMIM:101400	TWIST1	7291	HP:0011323	Cleft of chin
OMIM:101400	TWIST1	7291	HP:0001156	Brachydactyly
OMIM:101400	TWIST1	7291	HP:0003189	Long nose
OMIM:101400	TWIST1	7291	HP:0000327	Hypoplasia of the maxilla
OMIM:101400	TWIST1	7291	HP:0003002	Breast carcinoma
OMIM:101400	TWIST1	7291	HP:0000175	Cleft palate
OMIM:101400	TWIST1	7291	HP:0001627	Abnormal heart morphology
OMIM:101400	TWIST1	7291	HP:0000508	Ptosis
OMIM:101400	TWIST1	7291	HP:0008551	Microtia
OMIM:101400	TWIST1	7291	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger
OMIM:101400	TWIST1	7291	HP:0000270	Delayed cranial suture closure
OMIM:101400	TWIST1	7291	HP:0002697	Parietal foramina
OMIM:101400	TWIST1	7291	HP:0000614	Abnormality of the nasolacrimal system
OMIM:101400	TWIST1	7291	HP:0000263	Oxycephaly
OMIM:101400	TWIST1	7291	HP:0001822	Hallux valgus
OMIM:101400	TWIST1	7291	HP:0000294	Low anterior hairline
OMIM:101400	TWIST1	7291	HP:0002678	Skull asymmetry
OMIM:101400	TWIST1	7291	HP:0000272	Malar flattening
OMIM:101400	TWIST1	7291	HP:0004440	Coronal craniosynostosis
OMIM:101400	TWIST1	7291	HP:0000316	Hypertelorism
OMIM:101400	TWIST1	7291	HP:0000248	Brachycephaly
OMIM:101400	TWIST1	7291	HP:0009899	Prominent crus of helix
OMIM:101400	TWIST1	7291	HP:0000348	High forehead
OMIM:101400	TWIST1	7291	HP:0000586	Shallow orbits
OMIM:101400	TWIST1	7291	HP:0002974	Radioulnar synostosis
OMIM:101400	TWIST1	7291	HP:0000324	Facial asymmetry
OMIM:101400	TWIST1	7291	HP:0004322	Short stature
OMIM:101400	TWIST1	7291	HP:0004209	Clinodactyly of the 5th finger
OMIM:101400	TWIST1	7291	HP:0004443	Lambdoidal craniosynostosis
OMIM:101400	TWIST1	7291	HP:0002342	Intellectual disability, moderate
OMIM:101400	TWIST1	7291	HP:0010104	Absent first metatarsal
OMIM:101400	TWIST1	7291	HP:0003828	Variable expressivity
OMIM:101400	TWIST1	7291	HP:0004425	Flat forehead
OMIM:101400	TWIST1	7291	HP:0012368	Flat face
OMIM:101400	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:101400	TWIST1	7291	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:101400	TWIST1	7291	HP:0001770	Toe syndactyly
OMIM:101400	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:101400	TWIST1	7291	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger
OMIM:101400	TWIST1	7291	HP:0000460	Narrow nose
OMIM:101400	TWIST1	7291	HP:0000557	Buphthalmos
OMIM:101400	TWIST1	7291	HP:0000444	Convex nasal ridge
OMIM:101400	TWIST1	7291	HP:0000369	Low-set ears
OMIM:101400	TWIST1	7291	HP:0000189	Narrow palate
OMIM:101400	TWIST1	7291	HP:0000365	Hearing impairment
OMIM:101400	TWIST1	7291	HP:0000486	Strabismus
OMIM:604416	PSTPIP1	9051	HP:0025452	Pyoderma gangrenosum
OMIM:604416	PSTPIP1	9051	HP:0000006	Autosomal dominant inheritance
OMIM:604416	PSTPIP1	9051	HP:0000999	Pyoderma
OMIM:604416	PSTPIP1	9051	HP:0001061	Acne
OMIM:604416	PSTPIP1	9051	HP:0001369	Arthritis
OMIM:183086	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:183086	CACNA1A	773	HP:0000640	Gaze-evoked nystagmus
OMIM:183086	CACNA1A	773	HP:0007670	Abnormal vestibulo-ocular reflex
OMIM:183086	CACNA1A	773	HP:0003743	Genetic anticipation
OMIM:183086	CACNA1A	773	HP:0001260	Dysarthria
OMIM:183086	CACNA1A	773	HP:0000763	Sensory neuropathy
OMIM:183086	CACNA1A	773	HP:0002073	Progressive cerebellar ataxia
OMIM:183086	CACNA1A	773	HP:0007772	Impaired smooth pursuit
OMIM:183086	CACNA1A	773	HP:0001272	Cerebellar atrophy
OMIM:183086	CACNA1A	773	HP:0003676	Progressive
OMIM:183086	CACNA1A	773	HP:0002015	Dysphagia
OMIM:615596	STT3A	3703	HP:0001263	Global developmental delay
OMIM:615596	STT3A	3703	HP:0011968	Feeding difficulties
OMIM:615596	STT3A	3703	HP:0000252	Microcephaly
OMIM:615596	STT3A	3703	HP:0001290	Generalized hypotonia
OMIM:615596	STT3A	3703	HP:0001508	Failure to thrive
OMIM:615596	STT3A	3703	HP:0000007	Autosomal recessive inheritance
OMIM:615596	STT3A	3703	HP:0001272	Cerebellar atrophy
OMIM:615596	STT3A	3703	HP:0003577	Congenital onset
OMIM:615596	STT3A	3703	HP:0001249	Intellectual disability
OMIM:615596	STT3A	3703	HP:0001250	Seizures
ORPHA:93299	TRIP11	9321	HP:0005716	Lethal skeletal dysplasia
ORPHA:93299	TRIP11	9321	HP:0003270	Abdominal distention
ORPHA:93299	TRIP11	9321	HP:0000474	Thickened nuchal skin fold
ORPHA:93299	TRIP11	9321	HP:0000774	Narrow chest
ORPHA:93299	TRIP11	9321	HP:0012368	Flat face
ORPHA:93299	TRIP11	9321	HP:0003510	Severe short stature
ORPHA:93299	TRIP11	9321	HP:0001773	Short foot
ORPHA:93299	TRIP11	9321	HP:0001561	Polyhydramnios
ORPHA:93299	TRIP11	9321	HP:0006640	Multiple rib fractures
ORPHA:93299	TRIP11	9321	HP:0000347	Micrognathia
ORPHA:93299	TRIP11	9321	HP:0010306	Short thorax
ORPHA:93299	TRIP11	9321	HP:0000463	Anteverted nares
ORPHA:93299	TRIP11	9321	HP:0002757	Recurrent fractures
ORPHA:93299	TRIP11	9321	HP:0002983	Micromelia
ORPHA:93299	TRIP11	9321	HP:0000470	Short neck
ORPHA:93299	TRIP11	9321	HP:0001789	Hydrops fetalis
ORPHA:93299	TRIP11	9321	HP:0002007	Frontal bossing
ORPHA:93299	TRIP11	9321	HP:0004279	Short palm
ORPHA:93299	TRIP11	9321	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:93299	TRIP11	9321	HP:0003196	Short nose
ORPHA:93299	TRIP11	9321	HP:0000343	Long philtrum
ORPHA:93299	TRIP11	9321	HP:0100541	Femoral hernia
ORPHA:93299	TRIP11	9321	HP:0003336	Abnormal enchondral ossification
ORPHA:93299	TRIP11	9321	HP:0000256	Macrocephaly
ORPHA:93299	TRIP11	9321	HP:0001537	Umbilical hernia
OMIM:610256	FOXE3	2301	HP:0000639	Nystagmus
OMIM:610256	FOXE3	2301	HP:0000659	Peters anomaly
OMIM:610256	FOXE3	2301	HP:0000647	Sclerocornea
OMIM:610256	FOXE3	2301	HP:0000482	Microcornea
OMIM:610256	FOXE3	2301	HP:0007707	Congenital primary aphakia
OMIM:610256	FOXE3	2301	HP:0000007	Autosomal recessive inheritance
OMIM:610256	FOXE3	2301	HP:0011484	Posterior synechiae of the anterior chamber
OMIM:610256	FOXE3	2301	HP:0000518	Cataract
OMIM:610256	FOXE3	2301	HP:0000568	Microphthalmia
OMIM:610256	FOXE3	2301	HP:0007779	Anterior segment of eye aplasia
OMIM:610256	FOXE3	2301	HP:0000526	Aniridia
OMIM:616300	CEP120	153241	HP:0004482	Relative macrocephaly
OMIM:616300	CEP120	153241	HP:0011800	Midface retrusion
OMIM:616300	CEP120	153241	HP:0000089	Renal hypoplasia
OMIM:616300	CEP120	153241	HP:0000280	Coarse facial features
OMIM:616300	CEP120	153241	HP:0000316	Hypertelorism
OMIM:616300	CEP120	153241	HP:0000695	Natal tooth
OMIM:616300	CEP120	153241	HP:0100258	Preaxial polydactyly
OMIM:616300	CEP120	153241	HP:0000308	Microretrognathia
OMIM:616300	CEP120	153241	HP:0003180	Flat acetabular roof
OMIM:616300	CEP120	153241	HP:0000448	Prominent nose
OMIM:616300	CEP120	153241	HP:0000062	Ambiguous genitalia
OMIM:616300	CEP120	153241	HP:0000773	Short ribs
OMIM:616300	CEP120	153241	HP:0008839	Hypoplastic pelvis
OMIM:616300	CEP120	153241	HP:0002093	Respiratory insufficiency
OMIM:616300	CEP120	153241	HP:0011315	Unicoronal synostosis
OMIM:616300	CEP120	153241	HP:0000888	Horizontal ribs
OMIM:616300	CEP120	153241	HP:0001539	Omphalocele
OMIM:616300	CEP120	153241	HP:0001643	Patent ductus arteriosus
OMIM:616300	CEP120	153241	HP:0000774	Narrow chest
OMIM:616300	CEP120	153241	HP:0000028	Cryptorchidism
OMIM:616300	CEP120	153241	HP:0002692	Hypoplastic facial bones
OMIM:616300	CEP120	153241	HP:0001591	Bell-shaped thorax
OMIM:616300	CEP120	153241	HP:0002089	Pulmonary hypoplasia
OMIM:616300	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:616300	CEP120	153241	HP:0000400	Macrotia
ORPHA:1807	TWIST2	117581	HP:0005338	Sparse lateral eyebrow
ORPHA:1807	TWIST2	117581	HP:0007776	Sparse lower eyelashes
ORPHA:1807	TWIST2	117581	HP:0100781	Abnormality of the sacroiliac joint
ORPHA:1807	TWIST2	117581	HP:0002023	Anal atresia
ORPHA:1807	TWIST2	117581	HP:0002714	Downturned corners of mouth
ORPHA:1807	TWIST2	117581	HP:0000431	Wide nasal bridge
ORPHA:1807	TWIST2	117581	HP:0002553	Highly arched eyebrow
ORPHA:1807	TWIST2	117581	HP:0000286	Epicanthus
ORPHA:1807	TWIST2	117581	HP:0010720	Abnormal hair pattern
ORPHA:1807	TWIST2	117581	HP:0010751	Dimple chin
ORPHA:1807	TWIST2	117581	HP:0000322	Short philtrum
ORPHA:1807	TWIST2	117581	HP:0010935	Abnormality of the upper urinary tract
ORPHA:1807	TWIST2	117581	HP:0000457	Depressed nasal ridge
ORPHA:1807	TWIST2	117581	HP:0001582	Redundant skin
ORPHA:1807	TWIST2	117581	HP:0009743	Distichiasis
ORPHA:1807	TWIST2	117581	HP:0007495	Prematurely aged appearance
ORPHA:1807	TWIST2	117581	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:602629	THAP1	55145	HP:0000234	Abnormality of the head
OMIM:602629	THAP1	55145	HP:0000473	Torticollis
OMIM:602629	THAP1	55145	HP:0002451	Limb dystonia
OMIM:602629	THAP1	55145	HP:0002356	Writer's cramp
OMIM:602629	THAP1	55145	HP:0012049	Laryngeal dystonia
OMIM:602629	THAP1	55145	HP:0001260	Dysarthria
OMIM:602629	THAP1	55145	HP:0001304	Torsion dystonia
OMIM:602629	THAP1	55145	HP:0012048	Oromandibular dystonia
OMIM:602629	THAP1	55145	HP:0031008	Lingual dystonia
OMIM:602629	THAP1	55145	HP:0000006	Autosomal dominant inheritance
ORPHA:2073	HLA-DRB1	3123	HP:0002524	Cataplexy
ORPHA:2073	HLA-DRB1	3123	HP:0010534	Transient global amnesia
ORPHA:2073	HLA-DRB1	3123	HP:0000504	Abnormality of vision
ORPHA:2073	HLA-DRB1	3123	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	HLA-DRB1	3123	HP:0000738	Hallucinations
ORPHA:2073	HLA-DRB1	3123	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	HCRT	3060	HP:0002524	Cataplexy
ORPHA:2073	HCRT	3060	HP:0010534	Transient global amnesia
ORPHA:2073	HCRT	3060	HP:0000504	Abnormality of vision
ORPHA:2073	HCRT	3060	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	HCRT	3060	HP:0000738	Hallucinations
ORPHA:2073	HCRT	3060	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	MOG	4340	HP:0002524	Cataplexy
ORPHA:2073	MOG	4340	HP:0010534	Transient global amnesia
ORPHA:2073	MOG	4340	HP:0000504	Abnormality of vision
ORPHA:2073	MOG	4340	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	MOG	4340	HP:0000738	Hallucinations
ORPHA:2073	MOG	4340	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	CTSH	1512	HP:0002524	Cataplexy
ORPHA:2073	CTSH	1512	HP:0010534	Transient global amnesia
ORPHA:2073	CTSH	1512	HP:0000504	Abnormality of vision
ORPHA:2073	CTSH	1512	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	CTSH	1512	HP:0000738	Hallucinations
ORPHA:2073	CTSH	1512	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	P2RY11	5032	HP:0002524	Cataplexy
ORPHA:2073	P2RY11	5032	HP:0010534	Transient global amnesia
ORPHA:2073	P2RY11	5032	HP:0000504	Abnormality of vision
ORPHA:2073	P2RY11	5032	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	P2RY11	5032	HP:0000738	Hallucinations
ORPHA:2073	P2RY11	5032	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	ZNF365	22891	HP:0002524	Cataplexy
ORPHA:2073	ZNF365	22891	HP:0010534	Transient global amnesia
ORPHA:2073	ZNF365	22891	HP:0000504	Abnormality of vision
ORPHA:2073	ZNF365	22891	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	ZNF365	22891	HP:0000738	Hallucinations
ORPHA:2073	ZNF365	22891	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	TNFSF4	7292	HP:0002524	Cataplexy
ORPHA:2073	TNFSF4	7292	HP:0010534	Transient global amnesia
ORPHA:2073	TNFSF4	7292	HP:0000504	Abnormality of vision
ORPHA:2073	TNFSF4	7292	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	TNFSF4	7292	HP:0000738	Hallucinations
ORPHA:2073	TNFSF4	7292	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:2073	HLA-DQB1	3119	HP:0002524	Cataplexy
ORPHA:2073	HLA-DQB1	3119	HP:0010534	Transient global amnesia
ORPHA:2073	HLA-DQB1	3119	HP:0000504	Abnormality of vision
ORPHA:2073	HLA-DQB1	3119	HP:0002189	Excessive daytime sleepiness
ORPHA:2073	HLA-DQB1	3119	HP:0000738	Hallucinations
ORPHA:2073	HLA-DQB1	3119	HP:0002494	Abnormal rapid eye movement sleep
ORPHA:531	HIC1	3090	HP:0001626	Abnormality of the cardiovascular system
ORPHA:531	HIC1	3090	HP:0000463	Anteverted nares
ORPHA:531	HIC1	3090	HP:0002353	EEG abnormality
ORPHA:531	HIC1	3090	HP:0000348	High forehead
ORPHA:531	HIC1	3090	HP:0001339	Lissencephaly
ORPHA:531	HIC1	3090	HP:0000177	Abnormality of upper lip
ORPHA:531	HIC1	3090	HP:0001510	Growth delay
ORPHA:531	HIC1	3090	HP:0002120	Cerebral cortical atrophy
ORPHA:531	HIC1	3090	HP:0003196	Short nose
ORPHA:531	HIC1	3090	HP:0001250	Seizures
ORPHA:531	HIC1	3090	HP:0001561	Polyhydramnios
ORPHA:531	HIC1	3090	HP:0000286	Epicanthus
ORPHA:531	PAFAH1B1	5048	HP:0001626	Abnormality of the cardiovascular system
ORPHA:531	PAFAH1B1	5048	HP:0000463	Anteverted nares
ORPHA:531	PAFAH1B1	5048	HP:0002353	EEG abnormality
ORPHA:531	PAFAH1B1	5048	HP:0000348	High forehead
ORPHA:531	PAFAH1B1	5048	HP:0001339	Lissencephaly
ORPHA:531	PAFAH1B1	5048	HP:0000177	Abnormality of upper lip
ORPHA:531	PAFAH1B1	5048	HP:0001510	Growth delay
ORPHA:531	PAFAH1B1	5048	HP:0002120	Cerebral cortical atrophy
ORPHA:531	PAFAH1B1	5048	HP:0003196	Short nose
ORPHA:531	PAFAH1B1	5048	HP:0001250	Seizures
ORPHA:531	PAFAH1B1	5048	HP:0001561	Polyhydramnios
ORPHA:531	PAFAH1B1	5048	HP:0000286	Epicanthus
ORPHA:531	YWHAE	7531	HP:0001626	Abnormality of the cardiovascular system
ORPHA:531	YWHAE	7531	HP:0000463	Anteverted nares
ORPHA:531	YWHAE	7531	HP:0002353	EEG abnormality
ORPHA:531	YWHAE	7531	HP:0000348	High forehead
ORPHA:531	YWHAE	7531	HP:0001339	Lissencephaly
ORPHA:531	YWHAE	7531	HP:0000177	Abnormality of upper lip
ORPHA:531	YWHAE	7531	HP:0001510	Growth delay
ORPHA:531	YWHAE	7531	HP:0002120	Cerebral cortical atrophy
ORPHA:531	YWHAE	7531	HP:0003196	Short nose
ORPHA:531	YWHAE	7531	HP:0001250	Seizures
ORPHA:531	YWHAE	7531	HP:0001561	Polyhydramnios
ORPHA:531	YWHAE	7531	HP:0000286	Epicanthus
OMIM:270550	SACS	26278	HP:0002168	Scanning speech
OMIM:270550	SACS	26278	HP:0003593	Infantile onset
OMIM:270550	SACS	26278	HP:0007240	Progressive gait ataxia
OMIM:270550	SACS	26278	HP:0001765	Hammertoe
OMIM:270550	SACS	26278	HP:0006150	Swan neck-like deformities of the fingers
OMIM:270550	SACS	26278	HP:0000639	Nystagmus
OMIM:270550	SACS	26278	HP:0001761	Pes cavus
OMIM:270550	SACS	26278	HP:0003431	Decreased motor nerve conduction velocity
OMIM:270550	SACS	26278	HP:0001310	Dysmetria
OMIM:270550	SACS	26278	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270550	SACS	26278	HP:0003693	Distal amyotrophy
OMIM:270550	SACS	26278	HP:0007772	Impaired smooth pursuit
OMIM:270550	SACS	26278	HP:0002527	Falls
OMIM:270550	SACS	26278	HP:0001347	Hyperreflexia
OMIM:270550	SACS	26278	HP:0002497	Spastic ataxia
OMIM:270550	SACS	26278	HP:0000762	Decreased nerve conduction velocity
OMIM:270550	SACS	26278	HP:0002936	Distal sensory impairment
OMIM:270550	SACS	26278	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:270550	SACS	26278	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:270550	SACS	26278	HP:0003487	Babinski sign
OMIM:270550	SACS	26278	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
OMIM:270550	SACS	26278	HP:0000012	Urinary urgency
OMIM:270550	SACS	26278	HP:0000007	Autosomal recessive inheritance
OMIM:270550	SACS	26278	HP:0001257	Spasticity
OMIM:270550	SACS	26278	HP:0001260	Dysarthria
OMIM:270550	SACS	26278	HP:0002460	Distal muscle weakness
OMIM:270550	SACS	26278	HP:0003438	Absent Achilles reflex
OMIM:270550	SACS	26278	HP:0006855	Cerebellar vermis atrophy
OMIM:270550	SACS	26278	HP:0007221	Progressive truncal ataxia
OMIM:270550	SACS	26278	HP:0007922	Hypermyelinated retinal nerve fibers
OMIM:270550	SACS	26278	HP:0001249	Intellectual disability
OMIM:614462	LIAS	11019	HP:0001371	Flexion contracture
OMIM:614462	LIAS	11019	HP:0002093	Respiratory insufficiency
OMIM:614462	LIAS	11019	HP:0011344	Severe global developmental delay
OMIM:614462	LIAS	11019	HP:0003128	Lactic acidosis
OMIM:614462	LIAS	11019	HP:0001510	Growth delay
OMIM:614462	LIAS	11019	HP:0002104	Apnea
OMIM:614462	LIAS	11019	HP:0001290	Generalized hypotonia
OMIM:614462	LIAS	11019	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614462	LIAS	11019	HP:0002151	Increased serum lactate
OMIM:614462	LIAS	11019	HP:0002360	Sleep disturbance
OMIM:614462	LIAS	11019	HP:0001298	Encephalopathy
OMIM:614462	LIAS	11019	HP:0002510	Spastic tetraplegia
OMIM:614462	LIAS	11019	HP:0001250	Seizures
OMIM:614462	LIAS	11019	HP:0001270	Motor delay
OMIM:614462	LIAS	11019	HP:0011968	Feeding difficulties
OMIM:614462	LIAS	11019	HP:0000252	Microcephaly
OMIM:614462	LIAS	11019	HP:0012736	Profound global developmental delay
OMIM:614462	LIAS	11019	HP:0000007	Autosomal recessive inheritance
OMIM:614462	LIAS	11019	HP:0001336	Myoclonus
OMIM:613848	SERPINH1	871	HP:0002650	Scoliosis
OMIM:613848	SERPINH1	871	HP:0002983	Micromelia
OMIM:613848	SERPINH1	871	HP:0004482	Relative macrocephaly
OMIM:613848	SERPINH1	871	HP:0000774	Narrow chest
OMIM:613848	SERPINH1	871	HP:0000348	High forehead
OMIM:613848	SERPINH1	871	HP:0002761	Generalized joint laxity
OMIM:613848	SERPINH1	871	HP:0000787	Nephrolithiasis
OMIM:613848	SERPINH1	871	HP:0000885	Broad ribs
OMIM:613848	SERPINH1	871	HP:0001290	Generalized hypotonia
OMIM:613848	SERPINH1	871	HP:0011220	Prominent forehead
OMIM:613848	SERPINH1	871	HP:0000347	Micrognathia
OMIM:613848	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:613848	SERPINH1	871	HP:0006528	Chronic lung disease
OMIM:613848	SERPINH1	871	HP:0001388	Joint laxity
OMIM:613848	SERPINH1	871	HP:0000325	Triangular face
OMIM:613848	SERPINH1	871	HP:0002857	Genu valgum
OMIM:613848	SERPINH1	871	HP:0002953	Vertebral compression fractures
OMIM:613848	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:613848	SERPINH1	871	HP:0000926	Platyspondyly
OMIM:613848	SERPINH1	871	HP:0000272	Malar flattening
OMIM:613848	SERPINH1	871	HP:0004322	Short stature
OMIM:613848	SERPINH1	871	HP:0011800	Midface retrusion
OMIM:613848	SERPINH1	871	HP:0000938	Osteopenia
OMIM:613848	SERPINH1	871	HP:0000023	Inguinal hernia
OMIM:613848	SERPINH1	871	HP:0002021	Pyloric stenosis
OMIM:613848	SERPINH1	871	HP:0000703	Dentinogenesis imperfecta
OMIM:613848	SERPINH1	871	HP:0001620	High pitched voice
OMIM:613848	SERPINH1	871	HP:0000586	Shallow orbits
OMIM:613848	SERPINH1	871	HP:0000883	Thin ribs
OMIM:613848	SERPINH1	871	HP:0000341	Narrow forehead
ORPHA:85282	EIF2S3	1968	HP:0002353	EEG abnormality
ORPHA:85282	EIF2S3	1968	HP:0000054	Micropenis
ORPHA:85282	EIF2S3	1968	HP:0001182	Tapered finger
ORPHA:85282	EIF2S3	1968	HP:0001513	Obesity
ORPHA:85282	EIF2S3	1968	HP:0000713	Agitation
ORPHA:85282	EIF2S3	1968	HP:0001276	Hypertonia
ORPHA:85282	EIF2S3	1968	HP:0000028	Cryptorchidism
ORPHA:85282	EIF2S3	1968	HP:0001347	Hyperreflexia
ORPHA:85282	EIF2S3	1968	HP:0011344	Severe global developmental delay
ORPHA:85282	EIF2S3	1968	HP:0000293	Full cheeks
ORPHA:85282	EIF2S3	1968	HP:0000639	Nystagmus
ORPHA:85282	EIF2S3	1968	HP:0001762	Talipes equinovarus
ORPHA:85282	EIF2S3	1968	HP:0001252	Muscular hypotonia
ORPHA:85282	EIF2S3	1968	HP:0000340	Sloping forehead
ORPHA:85282	EIF2S3	1968	HP:0009748	Large earlobe
ORPHA:85282	EIF2S3	1968	HP:0001250	Seizures
ORPHA:85282	EIF2S3	1968	HP:0002714	Downturned corners of mouth
ORPHA:85282	EIF2S3	1968	HP:0010864	Intellectual disability, severe
ORPHA:85282	EIF2S3	1968	HP:0000252	Microcephaly
ORPHA:85282	EIF2S3	1968	HP:0012471	Thick vermilion border
ORPHA:85282	EIF2S3	1968	HP:0000311	Round face
ORPHA:85282	EIF2S3	1968	HP:0001510	Growth delay
OMIM:605282	CHSY1	22856	HP:0002553	Highly arched eyebrow
OMIM:605282	CHSY1	22856	HP:0030084	Clinodactyly
OMIM:605282	CHSY1	22856	HP:0001234	Hitchhiker thumb
OMIM:605282	CHSY1	22856	HP:0000699	Diastema
OMIM:605282	CHSY1	22856	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:605282	CHSY1	22856	HP:0000007	Autosomal recessive inheritance
OMIM:605282	CHSY1	22856	HP:0000664	Synophrys
OMIM:605282	CHSY1	22856	HP:0008368	Tarsal synostosis
OMIM:605282	CHSY1	22856	HP:0010049	Short metacarpal
OMIM:605282	CHSY1	22856	HP:0011087	Talon cusp
OMIM:605282	CHSY1	22856	HP:0001156	Brachydactyly
OMIM:605282	CHSY1	22856	HP:0010743	Short metatarsal
OMIM:605282	CHSY1	22856	HP:0002002	Deep philtrum
OMIM:605282	CHSY1	22856	HP:0000691	Microdontia
OMIM:605282	CHSY1	22856	HP:0009702	Carpal synostosis
OMIM:605282	CHSY1	22856	HP:0001159	Syndactyly
OMIM:616897	TAPT1	202018	HP:0000175	Cleft palate
OMIM:616897	TAPT1	202018	HP:0001181	Adducted thumb
OMIM:616897	TAPT1	202018	HP:0000054	Micropenis
OMIM:616897	TAPT1	202018	HP:0001640	Cardiomegaly
OMIM:616897	TAPT1	202018	HP:0001511	Intrauterine growth retardation
OMIM:616897	TAPT1	202018	HP:0000470	Short neck
OMIM:616897	TAPT1	202018	HP:0000248	Brachycephaly
OMIM:616897	TAPT1	202018	HP:0000773	Short ribs
OMIM:616897	TAPT1	202018	HP:0000938	Osteopenia
OMIM:616897	TAPT1	202018	HP:0000316	Hypertelorism
OMIM:616897	TAPT1	202018	HP:0000926	Platyspondyly
OMIM:616897	TAPT1	202018	HP:0000126	Hydronephrosis
OMIM:616897	TAPT1	202018	HP:0003015	Flared metaphysis
OMIM:616897	TAPT1	202018	HP:0005257	Thoracic hypoplasia
OMIM:616897	TAPT1	202018	HP:0001561	Polyhydramnios
OMIM:616897	TAPT1	202018	HP:0003978	Fractured radius
OMIM:616897	TAPT1	202018	HP:0005855	Multiple prenatal fractures
OMIM:616897	TAPT1	202018	HP:0100333	Unilateral cleft lip
OMIM:616897	TAPT1	202018	HP:0001541	Ascites
OMIM:616897	TAPT1	202018	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616897	TAPT1	202018	HP:0002119	Ventriculomegaly
OMIM:616897	TAPT1	202018	HP:0001371	Flexion contracture
OMIM:616897	TAPT1	202018	HP:0000358	Posteriorly rotated ears
OMIM:616897	TAPT1	202018	HP:0011220	Prominent forehead
OMIM:616897	TAPT1	202018	HP:0012368	Flat face
OMIM:616897	TAPT1	202018	HP:0004331	Decreased skull ossification
OMIM:616897	TAPT1	202018	HP:0009826	Limb undergrowth
OMIM:616897	TAPT1	202018	HP:0001629	Ventricular septal defect
OMIM:616897	TAPT1	202018	HP:0003097	Short femur
OMIM:616897	TAPT1	202018	HP:0000923	Beaded ribs
OMIM:616897	TAPT1	202018	HP:0000252	Microcephaly
OMIM:616897	TAPT1	202018	HP:0002265	Large fleshy ears
OMIM:616897	TAPT1	202018	HP:0000007	Autosomal recessive inheritance
OMIM:616897	TAPT1	202018	HP:0000463	Anteverted nares
OMIM:616897	TAPT1	202018	HP:0000431	Wide nasal bridge
OMIM:616897	TAPT1	202018	HP:0000047	Hypospadias
OMIM:616897	TAPT1	202018	HP:0000369	Low-set ears
OMIM:616897	TAPT1	202018	HP:0001789	Hydrops fetalis
OMIM:616897	TAPT1	202018	HP:0001195	Single umbilical artery
OMIM:616897	TAPT1	202018	HP:0000465	Webbed neck
OMIM:616897	TAPT1	202018	HP:0001321	Cerebellar hypoplasia
OMIM:616897	TAPT1	202018	HP:0002202	Pleural effusion
OMIM:616897	TAPT1	202018	HP:0002645	Wormian bones
OMIM:616897	TAPT1	202018	HP:0000347	Micrognathia
OMIM:616897	TAPT1	202018	HP:0001518	Small for gestational age
OMIM:616897	TAPT1	202018	HP:0003196	Short nose
OMIM:616897	TAPT1	202018	HP:0000506	Telecanthus
OMIM:616897	TAPT1	202018	HP:0006640	Multiple rib fractures
OMIM:616897	TAPT1	202018	HP:0002089	Pulmonary hypoplasia
OMIM:615346	MKRN3	7681	HP:0010314	Premature thelarche
OMIM:615346	MKRN3	7681	HP:0000006	Autosomal dominant inheritance
OMIM:615346	MKRN3	7681	HP:0005616	Accelerated skeletal maturation
OMIM:614706	GRN	2896	HP:0000648	Optic atrophy
OMIM:614706	GRN	2896	HP:0003678	Rapidly progressive
OMIM:614706	GRN	2896	HP:0002353	EEG abnormality
OMIM:614706	GRN	2896	HP:0000007	Autosomal recessive inheritance
OMIM:614706	GRN	2896	HP:0001272	Cerebellar atrophy
OMIM:614706	GRN	2896	HP:0001251	Ataxia
OMIM:614706	GRN	2896	HP:0000505	Visual impairment
OMIM:614706	GRN	2896	HP:0000556	Retinal dystrophy
OMIM:614706	GRN	2896	HP:0002123	Generalized myoclonic seizures
OMIM:122400	COL17A1	1308	HP:0009926	Increased lacrimation
OMIM:122400	COL17A1	1308	HP:0000505	Visual impairment
OMIM:122400	COL17A1	1308	HP:0200020	Corneal erosion
OMIM:122400	COL17A1	1308	HP:0000006	Autosomal dominant inheritance
OMIM:122400	COL17A1	1308	HP:0012531	Pain
OMIM:122400	COL17A1	1308	HP:0000613	Photophobia
OMIM:614202	MAN1B1	11253	HP:0000268	Dolichocephaly
OMIM:614202	MAN1B1	11253	HP:0000448	Prominent nose
OMIM:614202	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614202	MAN1B1	11253	HP:0000431	Wide nasal bridge
OMIM:614202	MAN1B1	11253	HP:0000272	Malar flattening
OMIM:614202	MAN1B1	11253	HP:0000718	Aggressive behavior
OMIM:614202	MAN1B1	11253	HP:0000319	Smooth philtrum
OMIM:614202	MAN1B1	11253	HP:0001250	Seizures
OMIM:614202	MAN1B1	11253	HP:0011229	Broad eyebrow
OMIM:614202	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:614202	MAN1B1	11253	HP:0002342	Intellectual disability, moderate
OMIM:614202	MAN1B1	11253	HP:0000316	Hypertelorism
OMIM:614202	MAN1B1	11253	HP:0000276	Long face
OMIM:614202	MAN1B1	11253	HP:0000219	Thin upper lip vermilion
OMIM:614202	MAN1B1	11253	HP:0000307	Pointed chin
OMIM:614202	MAN1B1	11253	HP:0000322	Short philtrum
OMIM:614202	MAN1B1	11253	HP:0004523	Long eyebrows
OMIM:614202	MAN1B1	11253	HP:0000494	Downslanted palpebral fissures
OMIM:611812	WNT4	54361	HP:0000104	Renal agenesis
OMIM:611812	WNT4	54361	HP:0000369	Low-set ears
OMIM:611812	WNT4	54361	HP:0000175	Cleft palate
OMIM:611812	WNT4	54361	HP:0012861	Ovotestis
OMIM:611812	WNT4	54361	HP:0011743	Adrenal gland agenesis
OMIM:611812	WNT4	54361	HP:0005343	Hypoplasia of the bladder
OMIM:611812	WNT4	54361	HP:0000776	Congenital diaphragmatic hernia
OMIM:611812	WNT4	54361	HP:0001629	Ventricular septal defect
OMIM:611812	WNT4	54361	HP:0002089	Pulmonary hypoplasia
OMIM:611812	WNT4	54361	HP:0004415	Pulmonary artery stenosis
OMIM:611812	WNT4	54361	HP:0000047	Hypospadias
OMIM:611812	WNT4	54361	HP:0001511	Intrauterine growth retardation
OMIM:611812	WNT4	54361	HP:0005944	Bilateral lung agenesis
OMIM:611812	WNT4	54361	HP:0000007	Autosomal recessive inheritance
OMIM:611812	WNT4	54361	HP:0012245	Sex reversal
OMIM:611812	WNT4	54361	HP:0410030	Cleft lip
OMIM:614895	PRX	57716	HP:0002650	Scoliosis
OMIM:614895	PRX	57716	HP:0001761	Pes cavus
OMIM:614895	PRX	57716	HP:0001270	Motor delay
OMIM:614895	PRX	57716	HP:0003202	Skeletal muscle atrophy
OMIM:614895	PRX	57716	HP:0003400	Basal lamina 'onion bulb' formation
OMIM:614895	PRX	57716	HP:0001284	Areflexia
OMIM:614895	PRX	57716	HP:0003431	Decreased motor nerve conduction velocity
OMIM:614895	PRX	57716	HP:0003677	Slow progression
OMIM:614895	PRX	57716	HP:0003690	Limb muscle weakness
OMIM:614895	PRX	57716	HP:0002355	Difficulty walking
OMIM:614895	PRX	57716	HP:0002936	Distal sensory impairment
OMIM:614895	PRX	57716	HP:0000007	Autosomal recessive inheritance
OMIM:614895	PRX	57716	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:614895	PRX	57716	HP:0011096	Peripheral demyelination
OMIM:212138	SLC25A20	788	HP:0003201	Rhabdomyolysis
OMIM:212138	SLC25A20	788	HP:0006682	Ventricular extrasystoles
OMIM:212138	SLC25A20	788	HP:0002240	Hepatomegaly
OMIM:212138	SLC25A20	788	HP:0004756	Ventricular tachycardia
OMIM:212138	SLC25A20	788	HP:0001638	Cardiomyopathy
OMIM:212138	SLC25A20	788	HP:0001714	Ventricular hypertrophy
OMIM:212138	SLC25A20	788	HP:0002910	Elevated hepatic transaminases
OMIM:212138	SLC25A20	788	HP:0001259	Coma
OMIM:212138	SLC25A20	788	HP:0003215	Dicarboxylic aciduria
OMIM:212138	SLC25A20	788	HP:0006543	Cardiorespiratory arrest
OMIM:212138	SLC25A20	788	HP:0001254	Lethargy
OMIM:212138	SLC25A20	788	HP:0001290	Generalized hypotonia
OMIM:212138	SLC25A20	788	HP:0001662	Bradycardia
OMIM:212138	SLC25A20	788	HP:0000737	Irritability
OMIM:212138	SLC25A20	788	HP:0001678	Atrioventricular block
OMIM:212138	SLC25A20	788	HP:0003236	Elevated serum creatine phosphokinase
OMIM:212138	SLC25A20	788	HP:0001324	Muscle weakness
OMIM:212138	SLC25A20	788	HP:0001987	Hyperammonemia
OMIM:212138	SLC25A20	788	HP:0002615	Hypotension
OMIM:212138	SLC25A20	788	HP:0000007	Autosomal recessive inheritance
OMIM:212138	SLC25A20	788	HP:0001250	Seizures
OMIM:212138	SLC25A20	788	HP:0001943	Hypoglycemia
OMIM:606392	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:606392	PDX1	3651	HP:0005978	Type II diabetes mellitus
OMIM:606392	PDX1	3651	HP:0004904	Maturity-onset diabetes of the young
OMIM:236792	L2HGDH	79944	HP:0000639	Nystagmus
OMIM:236792	L2HGDH	79944	HP:0002283	Global brain atrophy
OMIM:236792	L2HGDH	79944	HP:0002352	Leukoencephalopathy
OMIM:236792	L2HGDH	79944	HP:0000365	Hearing impairment
OMIM:236792	L2HGDH	79944	HP:0001250	Seizures
OMIM:236792	L2HGDH	79944	HP:0001272	Cerebellar atrophy
OMIM:236792	L2HGDH	79944	HP:0003593	Infantile onset
OMIM:236792	L2HGDH	79944	HP:0002357	Dysphasia
OMIM:236792	L2HGDH	79944	HP:0010864	Intellectual disability, severe
OMIM:236792	L2HGDH	79944	HP:0007256	Abnormal pyramidal signs
OMIM:236792	L2HGDH	79944	HP:0007371	Corpus callosum atrophy
OMIM:236792	L2HGDH	79944	HP:0000486	Strabismus
OMIM:236792	L2HGDH	79944	HP:0002376	Developmental regression
OMIM:236792	L2HGDH	79944	HP:0002171	Gliosis
OMIM:236792	L2HGDH	79944	HP:0006887	Intellectual disability, progressive
OMIM:236792	L2HGDH	79944	HP:0007258	Severe demyelination of the white matter
OMIM:236792	L2HGDH	79944	HP:0001285	Spastic tetraparesis
OMIM:236792	L2HGDH	79944	HP:0040144	L-2-hydroxyglutaric aciduria
OMIM:236792	L2HGDH	79944	HP:0000648	Optic atrophy
OMIM:236792	L2HGDH	79944	HP:0000007	Autosomal recessive inheritance
OMIM:236792	L2HGDH	79944	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:236792	L2HGDH	79944	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:236792	L2HGDH	79944	HP:0040147	L-2-hydroxyglutaric acidemia
OMIM:109730	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:109730	NOTCH1	4851	HP:0001647	Bicuspid aortic valve
OMIM:109730	NOTCH1	4851	HP:0001650	Aortic valve stenosis
OMIM:607250	TDP1	55775	HP:0003477	Peripheral axonal neuropathy
OMIM:607250	TDP1	55775	HP:0001761	Pes cavus
OMIM:607250	TDP1	55775	HP:0001251	Ataxia
OMIM:607250	TDP1	55775	HP:0003376	Steppage gait
OMIM:607250	TDP1	55775	HP:0000007	Autosomal recessive inheritance
OMIM:607250	TDP1	55775	HP:0003693	Distal amyotrophy
OMIM:124500	GJB2	2706	HP:0000365	Hearing impairment
OMIM:124500	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:124500	GJB2	2706	HP:0007460	Autoamputation of digits
OMIM:124500	GJB2	2706	HP:0007465	Honeycomb palmoplantar keratoderma
OMIM:124500	GJB2	2706	HP:0009775	Amniotic constriction ring
OMIM:611307	ANO5	203859	HP:0010628	Facial palsy
OMIM:611307	ANO5	203859	HP:0003560	Muscular dystrophy
OMIM:611307	ANO5	203859	HP:0003828	Variable expressivity
OMIM:611307	ANO5	203859	HP:0000007	Autosomal recessive inheritance
OMIM:611307	ANO5	203859	HP:0003676	Progressive
OMIM:611307	ANO5	203859	HP:0008981	Calf muscle hypertrophy
OMIM:611307	ANO5	203859	HP:0003749	Pelvic girdle muscle weakness
OMIM:611307	ANO5	203859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611307	ANO5	203859	HP:0003458	EMG: myopathic abnormalities
OMIM:611307	ANO5	203859	HP:0003547	Shoulder girdle muscle weakness
OMIM:611307	ANO5	203859	HP:0003701	Proximal muscle weakness
OMIM:611307	ANO5	203859	HP:0003326	Myalgia
OMIM:613751	ACVR2B	93	HP:0001651	Dextrocardia
OMIM:613751	ACVR2B	93	HP:0012020	Right aortic arch
OMIM:613751	ACVR2B	93	HP:0006695	Atrioventricular canal defect
OMIM:613751	ACVR2B	93	HP:0010452	Ectopia of the spleen
OMIM:613751	ACVR2B	93	HP:0001629	Ventricular septal defect
OMIM:613751	ACVR2B	93	HP:0000006	Autosomal dominant inheritance
OMIM:615816	PGM3	5238	HP:0000007	Autosomal recessive inheritance
OMIM:615816	PGM3	5238	HP:0000405	Conductive hearing impairment
OMIM:615816	PGM3	5238	HP:0001290	Generalized hypotonia
OMIM:615816	PGM3	5238	HP:0040148	Cortical myoclonus
OMIM:615816	PGM3	5238	HP:0000964	Eczema
OMIM:615816	PGM3	5238	HP:0001888	Lymphopenia
OMIM:615816	PGM3	5238	HP:0200029	Vasculitis in the skin
OMIM:615816	PGM3	5238	HP:0000218	High palate
OMIM:615816	PGM3	5238	HP:0001263	Global developmental delay
OMIM:615816	PGM3	5238	HP:0002205	Recurrent respiratory infections
OMIM:615816	PGM3	5238	HP:0100543	Cognitive impairment
OMIM:615816	PGM3	5238	HP:0001260	Dysarthria
OMIM:615816	PGM3	5238	HP:0002099	Asthma
OMIM:615816	PGM3	5238	HP:0000407	Sensorineural hearing impairment
OMIM:615816	PGM3	5238	HP:0003193	Allergic rhinitis
OMIM:615816	PGM3	5238	HP:0003474	Sensory impairment
OMIM:615816	PGM3	5238	HP:0001249	Intellectual disability
OMIM:615816	PGM3	5238	HP:0002721	Immunodeficiency
OMIM:615816	PGM3	5238	HP:0001875	Neutropenia
OMIM:615816	PGM3	5238	HP:0002650	Scoliosis
OMIM:615816	PGM3	5238	HP:0001251	Ataxia
OMIM:615816	PGM3	5238	HP:0002110	Bronchiectasis
ORPHA:1200	TXNL4A	10907	HP:0001671	Abnormality of the cardiac septa
ORPHA:1200	TXNL4A	10907	HP:0000316	Hypertelorism
ORPHA:1200	TXNL4A	10907	HP:0000426	Prominent nasal bridge
ORPHA:1200	TXNL4A	10907	HP:0012745	Short palpebral fissure
ORPHA:1200	TXNL4A	10907	HP:0004502	Bilateral choanal atresia
ORPHA:1200	POLR1A	25885	HP:0001671	Abnormality of the cardiac septa
ORPHA:1200	POLR1A	25885	HP:0000316	Hypertelorism
ORPHA:1200	POLR1A	25885	HP:0000426	Prominent nasal bridge
ORPHA:1200	POLR1A	25885	HP:0012745	Short palpebral fissure
ORPHA:1200	POLR1A	25885	HP:0004502	Bilateral choanal atresia
OMIM:604129	COL7A1	1294	HP:0001056	Milia
OMIM:604129	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:604129	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:604129	COL7A1	1294	HP:0001030	Fragile skin
OMIM:604129	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:604129	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:175900	MVK	4598	HP:0000006	Autosomal dominant inheritance
OMIM:175900	MVK	4598	HP:0200044	Porokeratosis
ORPHA:77260	GBA	2629	HP:0002240	Hepatomegaly
ORPHA:77260	GBA	2629	HP:0000486	Strabismus
ORPHA:77260	GBA	2629	HP:0001332	Dystonia
ORPHA:77260	GBA	2629	HP:0000602	Ophthalmoplegia
ORPHA:77260	GBA	2629	HP:0002098	Respiratory distress
ORPHA:77260	GBA	2629	HP:0001371	Flexion contracture
ORPHA:77260	GBA	2629	HP:0002205	Recurrent respiratory infections
ORPHA:77260	GBA	2629	HP:0002793	Abnormal pattern of respiration
ORPHA:77260	GBA	2629	HP:0012735	Cough
ORPHA:77260	GBA	2629	HP:0001744	Splenomegaly
ORPHA:77260	GBA	2629	HP:0002015	Dysphagia
ORPHA:77260	GBA	2629	HP:0002123	Generalized myoclonic seizures
ORPHA:77260	GBA	2629	HP:0001257	Spasticity
ORPHA:77260	GBA	2629	HP:0001298	Encephalopathy
ORPHA:3204	STIM1	6786	HP:0001872	Abnormality of thrombocytes
ORPHA:3204	STIM1	6786	HP:0001903	Anemia
ORPHA:3204	STIM1	6786	HP:0000979	Purpura
ORPHA:3204	STIM1	6786	HP:0004322	Short stature
ORPHA:3204	STIM1	6786	HP:0002167	Neurological speech impairment
ORPHA:3204	STIM1	6786	HP:0003011	Abnormality of the musculature
ORPHA:3204	STIM1	6786	HP:0000348	High forehead
ORPHA:3204	STIM1	6786	HP:0000490	Deeply set eye
ORPHA:3204	STIM1	6786	HP:0000616	Miosis
ORPHA:3204	STIM1	6786	HP:0001746	Asplenia
ORPHA:3204	STIM1	6786	HP:0001928	Abnormality of coagulation
ORPHA:3204	STIM1	6786	HP:0008064	Ichthyosis
ORPHA:3204	ORAI1	84876	HP:0001872	Abnormality of thrombocytes
ORPHA:3204	ORAI1	84876	HP:0001903	Anemia
ORPHA:3204	ORAI1	84876	HP:0000979	Purpura
ORPHA:3204	ORAI1	84876	HP:0004322	Short stature
ORPHA:3204	ORAI1	84876	HP:0002167	Neurological speech impairment
ORPHA:3204	ORAI1	84876	HP:0003011	Abnormality of the musculature
ORPHA:3204	ORAI1	84876	HP:0000348	High forehead
ORPHA:3204	ORAI1	84876	HP:0000490	Deeply set eye
ORPHA:3204	ORAI1	84876	HP:0000616	Miosis
ORPHA:3204	ORAI1	84876	HP:0001746	Asplenia
ORPHA:3204	ORAI1	84876	HP:0001928	Abnormality of coagulation
ORPHA:3204	ORAI1	84876	HP:0008064	Ichthyosis
OMIM:609628	LPIN2	9663	HP:0001510	Growth delay
OMIM:609628	LPIN2	9663	HP:0011123	Inflammatory abnormality of the skin
OMIM:609628	LPIN2	9663	HP:0002754	Osteomyelitis
OMIM:609628	LPIN2	9663	HP:0000007	Autosomal recessive inheritance
OMIM:609628	LPIN2	9663	HP:0001371	Flexion contracture
ORPHA:1490	SLC4A11	83959	HP:0000639	Nystagmus
ORPHA:1490	SLC4A11	83959	HP:0001131	Corneal dystrophy
ORPHA:1490	SLC4A11	83959	HP:0000407	Sensorineural hearing impairment
ORPHA:1490	SLC4A11	83959	HP:0000505	Visual impairment
ORPHA:1490	SLC4A11	83959	HP:0007957	Corneal opacity
OMIM:166250	FGFR1	2260	HP:0000750	Delayed speech and language development
OMIM:166250	FGFR1	2260	HP:0010049	Short metacarpal
OMIM:166250	FGFR1	2260	HP:0000272	Malar flattening
OMIM:166250	FGFR1	2260	HP:0000369	Low-set ears
OMIM:166250	FGFR1	2260	HP:0000706	Unerupted tooth
OMIM:166250	FGFR1	2260	HP:0002007	Frontal bossing
OMIM:166250	FGFR1	2260	HP:0005280	Depressed nasal bridge
OMIM:166250	FGFR1	2260	HP:0003196	Short nose
OMIM:166250	FGFR1	2260	HP:0005864	Pseudoarthrosis
OMIM:166250	FGFR1	2260	HP:0000218	High palate
OMIM:166250	FGFR1	2260	HP:0009826	Limb undergrowth
OMIM:166250	FGFR1	2260	HP:0002659	Increased susceptibility to fractures
OMIM:166250	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:166250	FGFR1	2260	HP:0000047	Hypospadias
OMIM:166250	FGFR1	2260	HP:0001508	Failure to thrive
OMIM:166250	FGFR1	2260	HP:0002098	Respiratory distress
OMIM:166250	FGFR1	2260	HP:0000882	Hypoplastic scapulae
OMIM:166250	FGFR1	2260	HP:0001739	Abnormality of the nasopharynx
OMIM:166250	FGFR1	2260	HP:0001742	Nasal obstruction
OMIM:166250	FGFR1	2260	HP:0000303	Mandibular prognathia
OMIM:166250	FGFR1	2260	HP:0000470	Short neck
OMIM:166250	FGFR1	2260	HP:0006009	Broad phalanx
OMIM:166250	FGFR1	2260	HP:0000041	Chordee
OMIM:166250	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:166250	FGFR1	2260	HP:0001230	Broad metacarpals
OMIM:166250	FGFR1	2260	HP:0000023	Inguinal hernia
OMIM:166250	FGFR1	2260	HP:0008905	Rhizomelia
OMIM:166250	FGFR1	2260	HP:0006487	Bowing of the long bones
OMIM:166250	FGFR1	2260	HP:0001773	Short foot
OMIM:166250	FGFR1	2260	HP:0004279	Short palm
OMIM:166250	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:166250	FGFR1	2260	HP:0001169	Broad palm
OMIM:166250	FGFR1	2260	HP:0010743	Short metatarsal
OMIM:166250	FGFR1	2260	HP:0011800	Midface retrusion
OMIM:166250	FGFR1	2260	HP:0000463	Anteverted nares
OMIM:166250	FGFR1	2260	HP:0001769	Broad foot
OMIM:166250	FGFR1	2260	HP:0002676	Cloverleaf skull
OMIM:166250	FGFR1	2260	HP:0000926	Platyspondyly
OMIM:166250	FGFR1	2260	HP:0009803	Short phalanx of finger
OMIM:166250	FGFR1	2260	HP:0000343	Long philtrum
OMIM:166250	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
OMIM:166250	FGFR1	2260	HP:0000586	Shallow orbits
OMIM:166250	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:166250	FGFR1	2260	HP:0001783	Broad metatarsal
OMIM:166250	FGFR1	2260	HP:0001800	Hypoplastic toenails
ORPHA:93160	VDR	7421	HP:0002901	Hypocalcemia
ORPHA:93160	VDR	7421	HP:0002757	Recurrent fractures
ORPHA:93160	VDR	7421	HP:0000843	Hyperparathyroidism
ORPHA:93160	VDR	7421	HP:0004322	Short stature
ORPHA:93160	VDR	7421	HP:0001596	Alopecia
ORPHA:93160	VDR	7421	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:93160	VDR	7421	HP:0000787	Nephrolithiasis
ORPHA:93160	VDR	7421	HP:0000944	Abnormality of the metaphysis
ORPHA:93160	VDR	7421	HP:0001373	Joint dislocation
ORPHA:93160	VDR	7421	HP:0002749	Osteomalacia
ORPHA:93160	VDR	7421	HP:0012062	Bone cyst
ORPHA:93160	VDR	7421	HP:0000765	Abnormality of the thorax
ORPHA:93160	VDR	7421	HP:0002970	Genu varum
ORPHA:93160	VDR	7421	HP:0000268	Dolichocephaly
ORPHA:93160	VDR	7421	HP:0100670	Rough bone trabeculation
ORPHA:93160	VDR	7421	HP:0003272	Abnormality of the hip bone
ORPHA:93160	VDR	7421	HP:0002653	Bone pain
ORPHA:93160	VDR	7421	HP:0002797	Osteolysis
ORPHA:93160	VDR	7421	HP:0009124	Abnormality of adipose tissue
ORPHA:93160	VDR	7421	HP:0001288	Gait disturbance
ORPHA:93160	VDR	7421	HP:0002148	Hypophosphatemia
ORPHA:93160	VDR	7421	HP:0000951	Abnormality of the skin
ORPHA:93160	VDR	7421	HP:0006323	Premature loss of primary teeth
OMIM:309900	IDS	3423	HP:0007703	Abnormality of retinal pigmentation
OMIM:309900	IDS	3423	HP:0004389	Intestinal pseudo-obstruction
OMIM:309900	IDS	3423	HP:0001371	Flexion contracture
OMIM:309900	IDS	3423	HP:0000403	Recurrent otitis media
OMIM:309900	IDS	3423	HP:0001419	X-linked recessive inheritance
OMIM:309900	IDS	3423	HP:0000687	Widely spaced teeth
OMIM:309900	IDS	3423	HP:0008301	Dermatan sulfate excretion in urine
OMIM:309900	IDS	3423	HP:0003510	Severe short stature
OMIM:309900	IDS	3423	HP:0002341	Cervical cord compression
OMIM:309900	IDS	3423	HP:0004322	Short stature
OMIM:309900	IDS	3423	HP:0001171	Split hand
OMIM:309900	IDS	3423	HP:0000508	Ptosis
OMIM:309900	IDS	3423	HP:0001609	Hoarse voice
OMIM:309900	IDS	3423	HP:0000943	Dysostosis multiplex
OMIM:309900	IDS	3423	HP:0002014	Diarrhea
OMIM:309900	IDS	3423	HP:0003502	Mild short stature
OMIM:309900	IDS	3423	HP:0001537	Umbilical hernia
OMIM:309900	IDS	3423	HP:0000280	Coarse facial features
OMIM:309900	IDS	3423	HP:0002180	Neurodegeneration
OMIM:309900	IDS	3423	HP:0002187	Intellectual disability, profound
OMIM:309900	IDS	3423	HP:0000023	Inguinal hernia
OMIM:309900	IDS	3423	HP:0000179	Thick lower lip vermilion
OMIM:309900	IDS	3423	HP:0001250	Seizures
OMIM:309900	IDS	3423	HP:0000998	Hypertrichosis
OMIM:309900	IDS	3423	HP:0001635	Congestive heart failure
OMIM:309900	IDS	3423	HP:0001654	Abnormality of the heart valves
OMIM:309900	IDS	3423	HP:0001085	Papilledema
OMIM:309900	IDS	3423	HP:0002099	Asthma
OMIM:309900	IDS	3423	HP:0000684	Delayed eruption of teeth
OMIM:309900	IDS	3423	HP:0002786	Tracheobronchomalacia
OMIM:309900	IDS	3423	HP:0001744	Splenomegaly
OMIM:309900	IDS	3423	HP:0030799	Scaphocephaly
OMIM:309900	IDS	3423	HP:0002159	Heparan sulfate excretion in urine
OMIM:309900	IDS	3423	HP:0002240	Hepatomegaly
OMIM:309900	IDS	3423	HP:0000238	Hydrocephalus
OMIM:309900	IDS	3423	HP:0000256	Macrocephaly
OMIM:309900	IDS	3423	HP:0000365	Hearing impairment
OMIM:309900	IDS	3423	HP:0000470	Short neck
OMIM:309900	IDS	3423	HP:0002870	Obstructive sleep apnea
OMIM:309900	IDS	3423	HP:0000158	Macroglossia
OMIM:309900	IDS	3423	HP:0002808	Kyphosis
OMIM:309900	IDS	3423	HP:0001761	Pes cavus
OMIM:616708	WAC	51322	HP:0000280	Coarse facial features
OMIM:616708	WAC	51322	HP:0000219	Thin upper lip vermilion
OMIM:616708	WAC	51322	HP:0000545	Myopia
OMIM:616708	WAC	51322	HP:0000490	Deeply set eye
OMIM:616708	WAC	51322	HP:0000293	Full cheeks
OMIM:616708	WAC	51322	HP:0000316	Hypertelorism
OMIM:616708	WAC	51322	HP:0000718	Aggressive behavior
OMIM:616708	WAC	51322	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616708	WAC	51322	HP:0000470	Short neck
OMIM:616708	WAC	51322	HP:0005280	Depressed nasal bridge
OMIM:616708	WAC	51322	HP:0011800	Midface retrusion
OMIM:616708	WAC	51322	HP:0000664	Synophrys
OMIM:616708	WAC	51322	HP:0003593	Infantile onset
OMIM:616708	WAC	51322	HP:0000337	Broad forehead
OMIM:616708	WAC	51322	HP:0000365	Hearing impairment
OMIM:616708	WAC	51322	HP:0000574	Thick eyebrow
OMIM:616708	WAC	51322	HP:0000713	Agitation
OMIM:616708	WAC	51322	HP:0001290	Generalized hypotonia
OMIM:616708	WAC	51322	HP:0000358	Posteriorly rotated ears
OMIM:616708	WAC	51322	HP:0000739	Anxiety
OMIM:616708	WAC	51322	HP:0001007	Hirsutism
OMIM:616708	WAC	51322	HP:0000414	Bulbous nose
OMIM:616708	WAC	51322	HP:0000248	Brachycephaly
OMIM:616708	WAC	51322	HP:0000377	Abnormality of the pinna
OMIM:616708	WAC	51322	HP:0002714	Downturned corners of mouth
OMIM:616708	WAC	51322	HP:0003186	Inverted nipples
OMIM:616708	WAC	51322	HP:0000006	Autosomal dominant inheritance
OMIM:616708	WAC	51322	HP:0011220	Prominent forehead
OMIM:616708	WAC	51322	HP:0000483	Astigmatism
OMIM:616708	WAC	51322	HP:0000486	Strabismus
OMIM:616708	WAC	51322	HP:0000750	Delayed speech and language development
ORPHA:2466	L1CAM	3897	HP:0001249	Intellectual disability
ORPHA:2466	L1CAM	3897	HP:0002381	Aphasia
ORPHA:2466	L1CAM	3897	HP:0001258	Spastic paraplegia
ORPHA:2466	L1CAM	3897	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2466	L1CAM	3897	HP:0004374	Hemiplegia/hemiparesis
ORPHA:2466	L1CAM	3897	HP:0000750	Delayed speech and language development
ORPHA:2466	L1CAM	3897	HP:0100490	Camptodactyly of finger
ORPHA:2466	L1CAM	3897	HP:0001347	Hyperreflexia
ORPHA:2466	L1CAM	3897	HP:0001288	Gait disturbance
ORPHA:2466	L1CAM	3897	HP:0004322	Short stature
ORPHA:2466	L1CAM	3897	HP:0001188	Hand clenching
ORPHA:139491	SLC40A1	30061	HP:0003281	Increased serum ferritin
ORPHA:139491	SLC40A1	30061	HP:0001397	Hepatic steatosis
ORPHA:139491	SLC40A1	30061	HP:0001373	Joint dislocation
ORPHA:139491	SLC40A1	30061	HP:0001386	Joint swelling
ORPHA:139491	SLC40A1	30061	HP:0002027	Abdominal pain
ORPHA:139491	SLC40A1	30061	HP:0001376	Limitation of joint mobility
ORPHA:139491	SLC40A1	30061	HP:0007440	Generalized hyperpigmentation
ORPHA:139491	SLC40A1	30061	HP:0002829	Arthralgia
OMIM:604292	TP63	8626	HP:0000863	Central diabetes insipidus
OMIM:604292	TP63	8626	HP:0000581	Blepharophimosis
OMIM:604292	TP63	8626	HP:0000670	Carious teeth
OMIM:604292	TP63	8626	HP:0000453	Choanal atresia
OMIM:604292	TP63	8626	HP:0000110	Renal dysplasia
OMIM:604292	TP63	8626	HP:0002286	Fair hair
OMIM:604292	TP63	8626	HP:0000968	Ectodermal dysplasia
OMIM:604292	TP63	8626	HP:0000653	Sparse eyelashes
OMIM:604292	TP63	8626	HP:0000072	Hydroureter
OMIM:604292	TP63	8626	HP:0000691	Microdontia
OMIM:604292	TP63	8626	HP:0000365	Hearing impairment
OMIM:604292	TP63	8626	HP:0000535	Sparse and thin eyebrow
OMIM:604292	TP63	8626	HP:0002215	Sparse axillary hair
OMIM:604292	TP63	8626	HP:0000204	Cleft upper lip
OMIM:604292	TP63	8626	HP:0000437	Depressed nasal tip
OMIM:604292	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:604292	TP63	8626	HP:0000081	Duplicated collecting system
OMIM:604292	TP63	8626	HP:0001171	Split hand
OMIM:604292	TP63	8626	HP:0001803	Nail pits
OMIM:604292	TP63	8626	HP:0007513	Generalized hypopigmentation
OMIM:604292	TP63	8626	HP:0000070	Ureterocele
OMIM:604292	TP63	8626	HP:0000613	Photophobia
OMIM:604292	TP63	8626	HP:0000217	Xerostomia
OMIM:604292	TP63	8626	HP:0002209	Sparse scalp hair
OMIM:604292	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:604292	TP63	8626	HP:0000635	Blue irides
OMIM:604292	TP63	8626	HP:0008551	Microtia
OMIM:604292	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:604292	TP63	8626	HP:0001592	Selective tooth agenesis
OMIM:604292	TP63	8626	HP:0000015	Bladder diverticulum
OMIM:604292	TP63	8626	HP:0000054	Micropenis
OMIM:604292	TP63	8626	HP:0000272	Malar flattening
OMIM:604292	TP63	8626	HP:0000198	Absence of Stensen duct
OMIM:604292	TP63	8626	HP:0002225	Sparse pubic hair
OMIM:604292	TP63	8626	HP:0000824	Growth hormone deficiency
OMIM:604292	TP63	8626	HP:0000028	Cryptorchidism
OMIM:604292	TP63	8626	HP:0100257	Ectrodactyly
OMIM:604292	TP63	8626	HP:0000076	Vesicoureteral reflux
OMIM:604292	TP63	8626	HP:0001839	Split foot
OMIM:604292	TP63	8626	HP:0008404	Nail dystrophy
OMIM:604292	TP63	8626	HP:0001770	Toe syndactyly
OMIM:604292	TP63	8626	HP:0000145	Transverse vaginal septum
OMIM:604292	TP63	8626	HP:0000175	Cleft palate
OMIM:604292	TP63	8626	HP:0000104	Renal agenesis
OMIM:604292	TP63	8626	HP:0001739	Abnormality of the nasopharynx
OMIM:604292	TP63	8626	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604292	TP63	8626	HP:0000498	Blepharitis
OMIM:604292	TP63	8626	HP:0000620	Dacryocystitis
OMIM:604292	TP63	8626	HP:0000962	Hyperkeratosis
OMIM:604292	TP63	8626	HP:0000126	Hydronephrosis
OMIM:609286	TWNK	56652	HP:0002015	Dysphagia
OMIM:609286	TWNK	56652	HP:0003200	Ragged-red muscle fibers
OMIM:609286	TWNK	56652	HP:0003690	Limb muscle weakness
OMIM:609286	TWNK	56652	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	TWNK	56652	HP:0000508	Ptosis
OMIM:609286	TWNK	56652	HP:0002059	Cerebral atrophy
OMIM:609286	TWNK	56652	HP:0000726	Dementia
OMIM:609286	TWNK	56652	HP:0003546	Exercise intolerance
OMIM:609286	TWNK	56652	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:609286	TWNK	56652	HP:0003701	Proximal muscle weakness
OMIM:609286	TWNK	56652	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:609286	TWNK	56652	HP:0001265	Hyporeflexia
OMIM:609286	TWNK	56652	HP:0000716	Depressivity
OMIM:609286	TWNK	56652	HP:0001618	Dysphonia
OMIM:609286	TWNK	56652	HP:0003581	Adult onset
OMIM:609286	TWNK	56652	HP:0012378	Fatigue
OMIM:609286	TWNK	56652	HP:0002151	Increased serum lactate
OMIM:609286	TWNK	56652	HP:0000590	Progressive external ophthalmoplegia
OMIM:609286	TWNK	56652	HP:0003323	Progressive muscle weakness
OMIM:609286	TWNK	56652	HP:0001288	Gait disturbance
OMIM:609286	TWNK	56652	HP:0001263	Global developmental delay
OMIM:609286	TWNK	56652	HP:0003676	Progressive
OMIM:609286	TWNK	56652	HP:0000006	Autosomal dominant inheritance
OMIM:609286	TWNK	56652	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:609286	TWNK	56652	HP:0001284	Areflexia
OMIM:609286	TWNK	56652	HP:0010871	Sensory ataxia
OMIM:609286	TWNK	56652	HP:0003326	Myalgia
OMIM:615851	VPS53	55275	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615851	VPS53	55275	HP:0002187	Intellectual disability, profound
OMIM:615851	VPS53	55275	HP:0002059	Cerebral atrophy
OMIM:615851	VPS53	55275	HP:0001263	Global developmental delay
OMIM:615851	VPS53	55275	HP:0000939	Osteoporosis
OMIM:615851	VPS53	55275	HP:0000252	Microcephaly
OMIM:615851	VPS53	55275	HP:0003593	Infantile onset
OMIM:615851	VPS53	55275	HP:0000253	Progressive microcephaly
OMIM:615851	VPS53	55275	HP:0001249	Intellectual disability
OMIM:615851	VPS53	55275	HP:0002510	Spastic tetraplegia
OMIM:615851	VPS53	55275	HP:0004322	Short stature
OMIM:615851	VPS53	55275	HP:0001272	Cerebellar atrophy
OMIM:615851	VPS53	55275	HP:0001319	Neonatal hypotonia
OMIM:615851	VPS53	55275	HP:0000737	Irritability
OMIM:615851	VPS53	55275	HP:0003676	Progressive
OMIM:615851	VPS53	55275	HP:0001371	Flexion contracture
OMIM:615851	VPS53	55275	HP:0000007	Autosomal recessive inheritance
OMIM:615851	VPS53	55275	HP:0002179	Opisthotonus
OMIM:615851	VPS53	55275	HP:0001250	Seizures
OMIM:615851	VPS53	55275	HP:0002650	Scoliosis
OMIM:616682	EXT2	2132	HP:0001290	Generalized hypotonia
OMIM:616682	EXT2	2132	HP:0000028	Cryptorchidism
OMIM:616682	EXT2	2132	HP:0000256	Macrocephaly
OMIM:616682	EXT2	2132	HP:0002650	Scoliosis
OMIM:616682	EXT2	2132	HP:0000486	Strabismus
OMIM:616682	EXT2	2132	HP:0000007	Autosomal recessive inheritance
OMIM:616682	EXT2	2132	HP:0000316	Hypertelorism
OMIM:616682	EXT2	2132	HP:0001263	Global developmental delay
OMIM:616682	EXT2	2132	HP:0001629	Ventricular septal defect
OMIM:616682	EXT2	2132	HP:0003593	Infantile onset
OMIM:616682	EXT2	2132	HP:0002020	Gastroesophageal reflux
OMIM:616682	EXT2	2132	HP:0002465	Poor speech
OMIM:616682	EXT2	2132	HP:0001250	Seizures
OMIM:616682	EXT2	2132	HP:0001845	Overlapping toe
OMIM:616682	EXT2	2132	HP:0002019	Constipation
OMIM:616682	EXT2	2132	HP:0000280	Coarse facial features
OMIM:615248	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613690	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613690	TNNI3	7137	HP:0001425	Heterogeneous
OMIM:613690	TNNI3	7137	HP:0001714	Ventricular hypertrophy
OMIM:613690	TNNI3	7137	HP:0001638	Cardiomyopathy
OMIM:200500	LMBR1	64327	HP:0005736	Short tibia
OMIM:200500	LMBR1	64327	HP:0009802	Aplasia of the phalanges of the hand
OMIM:200500	LMBR1	64327	HP:0010048	Aplasia of metacarpal bones
OMIM:200500	LMBR1	64327	HP:0002990	Fibular aplasia
OMIM:200500	LMBR1	64327	HP:0004231	Carpal bone aplasia
OMIM:200500	LMBR1	64327	HP:0000007	Autosomal recessive inheritance
OMIM:200500	LMBR1	64327	HP:0005632	Absent forearm
OMIM:200500	LMBR1	64327	HP:0004050	Absent hand
OMIM:200500	LMBR1	64327	HP:0010509	Aplasia of the tarsal bones
OMIM:200500	LMBR1	64327	HP:0005792	Short humerus
OMIM:200500	LMBR1	64327	HP:0003982	Aplasia of the ulna
OMIM:200500	LMBR1	64327	HP:0003974	Absent radius
OMIM:200500	LMBR1	64327	HP:0010760	Absent toe
OMIM:200500	LMBR1	64327	HP:0009820	Lower limb peromelia
OMIM:200500	LMBR1	64327	HP:0010744	Absent metatarsal bone
ORPHA:52417	BCL10	8915	HP:0002019	Constipation
ORPHA:52417	BCL10	8915	HP:0012378	Fatigue
ORPHA:52417	BCL10	8915	HP:0001824	Weight loss
ORPHA:52417	BCL10	8915	HP:0002017	Nausea and vomiting
ORPHA:52417	BCL10	8915	HP:0001945	Fever
ORPHA:52417	BCL10	8915	HP:0001903	Anemia
ORPHA:52417	BCL10	8915	HP:0000975	Hyperhidrosis
ORPHA:52417	BCL10	8915	HP:0002113	Pulmonary infiltrates
ORPHA:52417	BCL10	8915	HP:0012191	B-cell lymphoma
ORPHA:52417	IGH	3492	HP:0002019	Constipation
ORPHA:52417	IGH	3492	HP:0012378	Fatigue
ORPHA:52417	IGH	3492	HP:0001824	Weight loss
ORPHA:52417	IGH	3492	HP:0002017	Nausea and vomiting
ORPHA:52417	IGH	3492	HP:0001945	Fever
ORPHA:52417	IGH	3492	HP:0001903	Anemia
ORPHA:52417	IGH	3492	HP:0000975	Hyperhidrosis
ORPHA:52417	IGH	3492	HP:0002113	Pulmonary infiltrates
ORPHA:52417	IGH	3492	HP:0012191	B-cell lymphoma
ORPHA:52417	BIRC3	330	HP:0002019	Constipation
ORPHA:52417	BIRC3	330	HP:0012378	Fatigue
ORPHA:52417	BIRC3	330	HP:0001824	Weight loss
ORPHA:52417	BIRC3	330	HP:0002017	Nausea and vomiting
ORPHA:52417	BIRC3	330	HP:0001945	Fever
ORPHA:52417	BIRC3	330	HP:0001903	Anemia
ORPHA:52417	BIRC3	330	HP:0000975	Hyperhidrosis
ORPHA:52417	BIRC3	330	HP:0002113	Pulmonary infiltrates
ORPHA:52417	BIRC3	330	HP:0012191	B-cell lymphoma
ORPHA:52417	MALT1	10892	HP:0002019	Constipation
ORPHA:52417	MALT1	10892	HP:0012378	Fatigue
ORPHA:52417	MALT1	10892	HP:0001824	Weight loss
ORPHA:52417	MALT1	10892	HP:0002017	Nausea and vomiting
ORPHA:52417	MALT1	10892	HP:0001945	Fever
ORPHA:52417	MALT1	10892	HP:0001903	Anemia
ORPHA:52417	MALT1	10892	HP:0000975	Hyperhidrosis
ORPHA:52417	MALT1	10892	HP:0002113	Pulmonary infiltrates
ORPHA:52417	MALT1	10892	HP:0012191	B-cell lymphoma
ORPHA:52417	FOXP1	27086	HP:0002019	Constipation
ORPHA:52417	FOXP1	27086	HP:0012378	Fatigue
ORPHA:52417	FOXP1	27086	HP:0001824	Weight loss
ORPHA:52417	FOXP1	27086	HP:0002017	Nausea and vomiting
ORPHA:52417	FOXP1	27086	HP:0001945	Fever
ORPHA:52417	FOXP1	27086	HP:0001903	Anemia
ORPHA:52417	FOXP1	27086	HP:0000975	Hyperhidrosis
ORPHA:52417	FOXP1	27086	HP:0002113	Pulmonary infiltrates
ORPHA:52417	FOXP1	27086	HP:0012191	B-cell lymphoma
OMIM:223000	LCT	3938	HP:0025130	Decreased small intestinal mucosa lactase activity
OMIM:223000	LCT	3938	HP:0000007	Autosomal recessive inheritance
OMIM:223000	LCT	3938	HP:0001942	Metabolic acidosis
OMIM:223000	LCT	3938	HP:0004789	Lactose intolerance
OMIM:223000	LCT	3938	HP:0002014	Diarrhea
OMIM:223000	LCT	3938	HP:0001944	Dehydration
OMIM:204000	GUCY2D	3000	HP:0002240	Hepatomegaly
OMIM:204000	GUCY2D	3000	HP:0000580	Pigmentary retinopathy
OMIM:204000	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:204000	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:204000	GUCY2D	3000	HP:0000613	Photophobia
OMIM:204000	GUCY2D	3000	HP:0001483	Eye poking
OMIM:204000	GUCY2D	3000	HP:0003296	Hyperthreoninuria
OMIM:204000	GUCY2D	3000	HP:0000407	Sensorineural hearing impairment
OMIM:204000	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:204000	GUCY2D	3000	HP:0000518	Cataract
OMIM:204000	GUCY2D	3000	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:204000	GUCY2D	3000	HP:0000618	Blindness
OMIM:204000	GUCY2D	3000	HP:0001099	Fundus atrophy
OMIM:204000	GUCY2D	3000	HP:0001510	Growth delay
OMIM:204000	GUCY2D	3000	HP:0003354	Hyperthreoninemia
OMIM:204000	GUCY2D	3000	HP:0001249	Intellectual disability
OMIM:613310	TSPAN12	23554	HP:0001146	Pigmentary retinal degeneration
OMIM:613310	TSPAN12	23554	HP:0030490	Exudative vitreoretinopathy
OMIM:613310	TSPAN12	23554	HP:0000006	Autosomal dominant inheritance
OMIM:617409	RPS27	6232	HP:0000006	Autosomal dominant inheritance
OMIM:617409	RPS27	6232	HP:0001000	Abnormality of skin pigmentation
OMIM:617409	RPS27	6232	HP:0001903	Anemia
ORPHA:1956	SCN9A	6335	HP:0000989	Pruritus
ORPHA:1956	SCN9A	6335	HP:0010783	Erythema
ORPHA:1956	SCN9A	6335	HP:0009830	Peripheral neuropathy
OMIM:613559	C12ORF65	91574	HP:0000602	Ophthalmoplegia
OMIM:613559	C12ORF65	91574	HP:0001508	Failure to thrive
OMIM:613559	C12ORF65	91574	HP:0000007	Autosomal recessive inheritance
OMIM:613559	C12ORF65	91574	HP:0001290	Generalized hypotonia
OMIM:613559	C12ORF65	91574	HP:0003676	Progressive
OMIM:613559	C12ORF65	91574	HP:0002151	Increased serum lactate
OMIM:613559	C12ORF65	91574	HP:0002590	Paralytic ileus
OMIM:613559	C12ORF65	91574	HP:0001260	Dysarthria
OMIM:613559	C12ORF65	91574	HP:0002376	Developmental regression
OMIM:613559	C12ORF65	91574	HP:0000508	Ptosis
OMIM:613559	C12ORF65	91574	HP:0000505	Visual impairment
OMIM:613559	C12ORF65	91574	HP:0000639	Nystagmus
OMIM:613559	C12ORF65	91574	HP:0000648	Optic atrophy
OMIM:613559	C12ORF65	91574	HP:0001263	Global developmental delay
OMIM:613559	C12ORF65	91574	HP:0001251	Ataxia
OMIM:613559	C12ORF65	91574	HP:0001349	Facial diplegia
OMIM:613559	C12ORF65	91574	HP:0002936	Distal sensory impairment
OMIM:613559	C12ORF65	91574	HP:0003202	Skeletal muscle atrophy
OMIM:613559	C12ORF65	91574	HP:0002490	Increased CSF lactate
OMIM:613559	C12ORF65	91574	HP:0001284	Areflexia
ORPHA:1856	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:1856	COL2A1	1280	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:1856	COL2A1	1280	HP:0003022	Hypoplasia of the ulna
ORPHA:1856	COL2A1	1280	HP:0004322	Short stature
ORPHA:1856	COL2A1	1280	HP:0001376	Limitation of joint mobility
ORPHA:1856	COL2A1	1280	HP:0005863	Type E brachydactyly
ORPHA:1856	COL2A1	1280	HP:0010049	Short metacarpal
ORPHA:1856	COL2A1	1280	HP:0000944	Abnormality of the metaphysis
ORPHA:1856	COL2A1	1280	HP:0100734	Abnormality of vertebral epiphysis morphology
ORPHA:1856	COL2A1	1280	HP:0002983	Micromelia
ORPHA:1856	COL2A1	1280	HP:0010579	Cone-shaped epiphysis
ORPHA:2394	DLD	1738	HP:0001257	Spasticity
ORPHA:2394	DLD	1738	HP:0100724	Hypercoagulability
ORPHA:2394	DLD	1738	HP:0002910	Elevated hepatic transaminases
ORPHA:2394	DLD	1738	HP:0012758	Neurodevelopmental delay
ORPHA:2394	DLD	1738	HP:0003128	Lactic acidosis
ORPHA:2394	DLD	1738	HP:0008344	Elevated plasma branched chain amino acids
ORPHA:2394	DLD	1738	HP:0002151	Increased serum lactate
ORPHA:2394	DLD	1738	HP:0002013	Vomiting
ORPHA:2394	DLD	1738	HP:0002240	Hepatomegaly
ORPHA:2394	DLD	1738	HP:0012402	Increased urine alpha-ketoglutarate concentration
ORPHA:2394	DLD	1738	HP:0001943	Hypoglycemia
ORPHA:2394	DLD	1738	HP:0011968	Feeding difficulties
ORPHA:2394	DLD	1738	HP:0001250	Seizures
ORPHA:2394	DLD	1738	HP:0002480	Hepatic encephalopathy
ORPHA:2394	DLD	1738	HP:0001290	Generalized hypotonia
ORPHA:2394	DLD	1738	HP:0001254	Lethargy
ORPHA:85277	NEXMIF	340533	HP:0000049	Shawl scrotum
ORPHA:85277	NEXMIF	340533	HP:0003196	Short nose
ORPHA:85277	NEXMIF	340533	HP:0001249	Intellectual disability
ORPHA:85277	NEXMIF	340533	HP:0002120	Cerebral cortical atrophy
ORPHA:85277	NEXMIF	340533	HP:0011344	Severe global developmental delay
ORPHA:85277	NEXMIF	340533	HP:0001250	Seizures
ORPHA:85277	NEXMIF	340533	HP:0002273	Tetraparesis
ORPHA:85277	NEXMIF	340533	HP:0002020	Gastroesophageal reflux
ORPHA:85277	NEXMIF	340533	HP:0000322	Short philtrum
ORPHA:85277	NEXMIF	340533	HP:0000565	Esotropia
ORPHA:85277	NEXMIF	340533	HP:0002119	Ventriculomegaly
ORPHA:85277	NEXMIF	340533	HP:0010804	Tented upper lip vermilion
ORPHA:85277	NEXMIF	340533	HP:0001344	Absent speech
ORPHA:85277	NEXMIF	340533	HP:0000733	Stereotypy
ORPHA:85277	NEXMIF	340533	HP:0000729	Autistic behavior
ORPHA:85277	NEXMIF	340533	HP:0001319	Neonatal hypotonia
ORPHA:85277	NEXMIF	340533	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616204	GRID2	2895	HP:0001290	Generalized hypotonia
OMIM:616204	GRID2	2895	HP:0001310	Dysmetria
OMIM:616204	GRID2	2895	HP:0003593	Infantile onset
OMIM:616204	GRID2	2895	HP:0002066	Gait ataxia
OMIM:616204	GRID2	2895	HP:0001263	Global developmental delay
OMIM:616204	GRID2	2895	HP:0002075	Dysdiadochokinesis
OMIM:616204	GRID2	2895	HP:0100543	Cognitive impairment
OMIM:616204	GRID2	2895	HP:0002465	Poor speech
OMIM:616204	GRID2	2895	HP:0002311	Incoordination
OMIM:616204	GRID2	2895	HP:0000565	Esotropia
OMIM:616204	GRID2	2895	HP:0000657	Oculomotor apraxia
OMIM:616204	GRID2	2895	HP:0001272	Cerebellar atrophy
OMIM:616204	GRID2	2895	HP:0000007	Autosomal recessive inheritance
OMIM:616204	GRID2	2895	HP:0000639	Nystagmus
OMIM:616204	GRID2	2895	HP:0002078	Truncal ataxia
OMIM:616204	GRID2	2895	HP:0001260	Dysarthria
ORPHA:3027	FUZ	80199	HP:0008479	Hypoplastic vertebral bodies
ORPHA:3027	FUZ	80199	HP:0003199	Decreased muscle mass
ORPHA:3027	FUZ	80199	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3027	FUZ	80199	HP:0001315	Reduced tendon reflexes
ORPHA:3027	FUZ	80199	HP:0001387	Joint stiffness
ORPHA:3027	FUZ	80199	HP:0100710	Impulsivity
ORPHA:3027	FUZ	80199	HP:0002607	Bowel incontinence
ORPHA:3027	FUZ	80199	HP:0000073	Ureteral duplication
ORPHA:3027	FUZ	80199	HP:0008517	Aplasia/Hypoplasia of the sacrum
ORPHA:3027	FUZ	80199	HP:0009800	Maternal diabetes
ORPHA:3027	FUZ	80199	HP:0011867	Abnormality of the wing of the ilium
ORPHA:3027	FUZ	80199	HP:0000104	Renal agenesis
ORPHA:3027	FUZ	80199	HP:0000086	Ectopic kidney
ORPHA:3027	FUZ	80199	HP:0002023	Anal atresia
ORPHA:3027	FUZ	80199	HP:0002650	Scoliosis
ORPHA:3027	FUZ	80199	HP:0001762	Talipes equinovarus
ORPHA:3027	FUZ	80199	HP:0000076	Vesicoureteral reflux
ORPHA:3027	FUZ	80199	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:3027	VANGL1	81839	HP:0008479	Hypoplastic vertebral bodies
ORPHA:3027	VANGL1	81839	HP:0003199	Decreased muscle mass
ORPHA:3027	VANGL1	81839	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3027	VANGL1	81839	HP:0001315	Reduced tendon reflexes
ORPHA:3027	VANGL1	81839	HP:0001387	Joint stiffness
ORPHA:3027	VANGL1	81839	HP:0100710	Impulsivity
ORPHA:3027	VANGL1	81839	HP:0002607	Bowel incontinence
ORPHA:3027	VANGL1	81839	HP:0000073	Ureteral duplication
ORPHA:3027	VANGL1	81839	HP:0008517	Aplasia/Hypoplasia of the sacrum
ORPHA:3027	VANGL1	81839	HP:0009800	Maternal diabetes
ORPHA:3027	VANGL1	81839	HP:0011867	Abnormality of the wing of the ilium
ORPHA:3027	VANGL1	81839	HP:0000104	Renal agenesis
ORPHA:3027	VANGL1	81839	HP:0000086	Ectopic kidney
ORPHA:3027	VANGL1	81839	HP:0002023	Anal atresia
ORPHA:3027	VANGL1	81839	HP:0002650	Scoliosis
ORPHA:3027	VANGL1	81839	HP:0001762	Talipes equinovarus
ORPHA:3027	VANGL1	81839	HP:0000076	Vesicoureteral reflux
ORPHA:3027	VANGL1	81839	HP:0005640	Abnormal vertebral segmentation and fusion
OMIM:608553	NMNAT1	64802	HP:0000543	Optic disc pallor
OMIM:608553	NMNAT1	64802	HP:0001116	Macular coloboma
OMIM:608553	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:608553	NMNAT1	64802	HP:0000648	Optic atrophy
OMIM:608553	NMNAT1	64802	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:608553	NMNAT1	64802	HP:0000540	Hypermetropia
OMIM:233420	DHH	50846	HP:0000786	Primary amenorrhea
OMIM:233420	DHH	50846	HP:0001425	Heterogeneous
OMIM:233420	DHH	50846	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	DHH	50846	HP:0010464	Streak ovary
OMIM:233420	DHH	50846	HP:0009714	Abnormality of the epididymis
OMIM:233420	DHH	50846	HP:0000150	Gonadoblastoma
OMIM:233420	DHH	50846	HP:0000013	Hypoplasia of the uterus
OMIM:233420	DHH	50846	HP:0000007	Autosomal recessive inheritance
OMIM:233420	DHH	50846	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	DHH	50846	HP:0012245	Sex reversal
OMIM:615033	DDHD2	23259	HP:0001258	Spastic paraplegia
OMIM:615033	DDHD2	23259	HP:0002518	Abnormality of the periventricular white matter
OMIM:615033	DDHD2	23259	HP:0004322	Short stature
OMIM:615033	DDHD2	23259	HP:0007340	Lower limb muscle weakness
OMIM:615033	DDHD2	23259	HP:0001263	Global developmental delay
OMIM:615033	DDHD2	23259	HP:0003676	Progressive
OMIM:615033	DDHD2	23259	HP:0002015	Dysphagia
OMIM:615033	DDHD2	23259	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615033	DDHD2	23259	HP:0003487	Babinski sign
OMIM:615033	DDHD2	23259	HP:0001249	Intellectual disability
OMIM:615033	DDHD2	23259	HP:0000506	Telecanthus
OMIM:615033	DDHD2	23259	HP:0000486	Strabismus
OMIM:615033	DDHD2	23259	HP:0001260	Dysarthria
OMIM:615033	DDHD2	23259	HP:0000007	Autosomal recessive inheritance
OMIM:615033	DDHD2	23259	HP:0001347	Hyperreflexia
OMIM:611523	RARS2	57038	HP:0001272	Cerebellar atrophy
OMIM:611523	RARS2	57038	HP:0003577	Congenital onset
OMIM:611523	RARS2	57038	HP:0001321	Cerebellar hypoplasia
OMIM:611523	RARS2	57038	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:611523	RARS2	57038	HP:0002061	Lower limb spasticity
OMIM:611523	RARS2	57038	HP:0002490	Increased CSF lactate
OMIM:611523	RARS2	57038	HP:0001250	Seizures
OMIM:611523	RARS2	57038	HP:0000007	Autosomal recessive inheritance
OMIM:611523	RARS2	57038	HP:0001290	Generalized hypotonia
OMIM:611523	RARS2	57038	HP:0002059	Cerebral atrophy
OMIM:611523	RARS2	57038	HP:0000426	Prominent nasal bridge
OMIM:611523	RARS2	57038	HP:0000490	Deeply set eye
OMIM:611523	RARS2	57038	HP:0001344	Absent speech
OMIM:611523	RARS2	57038	HP:0006986	Upper limb spasticity
OMIM:611523	RARS2	57038	HP:0000189	Narrow palate
OMIM:611523	RARS2	57038	HP:0003676	Progressive
OMIM:611523	RARS2	57038	HP:0001347	Hyperreflexia
OMIM:611523	RARS2	57038	HP:0002151	Increased serum lactate
OMIM:611523	RARS2	57038	HP:0002033	Poor suck
OMIM:611523	RARS2	57038	HP:0000253	Progressive microcephaly
OMIM:611523	RARS2	57038	HP:0000341	Narrow forehead
OMIM:611523	RARS2	57038	HP:0002104	Apnea
OMIM:611523	RARS2	57038	HP:0001508	Failure to thrive
OMIM:611523	RARS2	57038	HP:0003828	Variable expressivity
OMIM:611523	RARS2	57038	HP:0001263	Global developmental delay
OMIM:611523	RARS2	57038	HP:0003819	Death in childhood
OMIM:611523	RARS2	57038	HP:0002421	Poor head control
OMIM:612643	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:612643	GJB6	10804	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:616517	ATF6	22926	HP:0000007	Autosomal recessive inheritance
ORPHA:60	SERPINA1	5265	HP:0000952	Jaundice
ORPHA:60	SERPINA1	5265	HP:0012115	Hepatitis
ORPHA:60	SERPINA1	5265	HP:0001399	Hepatic failure
ORPHA:60	SERPINA1	5265	HP:0002097	Emphysema
ORPHA:60	SERPINA1	5265	HP:0002240	Hepatomegaly
OMIM:600316	MYO15A	51168	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
ORPHA:90342	POLH	5429	HP:0001009	Telangiectasia
ORPHA:90342	POLH	5429	HP:0000491	Keratitis
ORPHA:90342	POLH	5429	HP:0002861	Melanoma
ORPHA:90342	POLH	5429	HP:0004334	Dermal atrophy
ORPHA:90342	POLH	5429	HP:0000992	Cutaneous photosensitivity
ORPHA:90342	POLH	5429	HP:0002671	Basal cell carcinoma
ORPHA:90342	POLH	5429	HP:0001010	Hypopigmentation of the skin
ORPHA:90342	POLH	5429	HP:0000613	Photophobia
ORPHA:90342	POLH	5429	HP:0000958	Dry skin
ORPHA:90342	POLH	5429	HP:0001029	Poikiloderma
ORPHA:90342	POLH	5429	HP:0002860	Squamous cell carcinoma
ORPHA:90342	POLH	5429	HP:0007603	Freckles in sun-exposed areas
OMIM:614582	MRPL3	11222	HP:0002151	Increased serum lactate
OMIM:614582	MRPL3	11222	HP:0011968	Feeding difficulties
OMIM:614582	MRPL3	11222	HP:0002094	Dyspnea
OMIM:614582	MRPL3	11222	HP:0002240	Hepatomegaly
OMIM:614582	MRPL3	11222	HP:0000007	Autosomal recessive inheritance
OMIM:614582	MRPL3	11222	HP:0001263	Global developmental delay
OMIM:614582	MRPL3	11222	HP:0003348	Hyperalaninemia
OMIM:614582	MRPL3	11222	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614582	MRPL3	11222	HP:0002910	Elevated hepatic transaminases
OMIM:614582	MRPL3	11222	HP:0001508	Failure to thrive
OMIM:617069	TK2	7084	HP:0003701	Proximal muscle weakness
OMIM:617069	TK2	7084	HP:0003737	Mitochondrial myopathy
OMIM:617069	TK2	7084	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617069	TK2	7084	HP:0002151	Increased serum lactate
OMIM:617069	TK2	7084	HP:0002015	Dysphagia
OMIM:617069	TK2	7084	HP:0010628	Facial palsy
OMIM:617069	TK2	7084	HP:0000590	Progressive external ophthalmoplegia
OMIM:617069	TK2	7084	HP:0000508	Ptosis
OMIM:617069	TK2	7084	HP:0003691	Scapular winging
OMIM:617069	TK2	7084	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:617069	TK2	7084	HP:0000007	Autosomal recessive inheritance
OMIM:617069	TK2	7084	HP:0003202	Skeletal muscle atrophy
OMIM:617069	TK2	7084	HP:0001260	Dysarthria
OMIM:143880	CYP24A1	1591	HP:0001290	Generalized hypotonia
OMIM:143880	CYP24A1	1591	HP:0000006	Autosomal dominant inheritance
OMIM:143880	CYP24A1	1591	HP:0000103	Polyuria
OMIM:143880	CYP24A1	1591	HP:0001650	Aortic valve stenosis
OMIM:143880	CYP24A1	1591	HP:0000121	Nephrocalcinosis
OMIM:143880	CYP24A1	1591	HP:0001508	Failure to thrive
OMIM:143880	CYP24A1	1591	HP:0002150	Hypercalciuria
OMIM:143880	CYP24A1	1591	HP:0001254	Lethargy
OMIM:143880	CYP24A1	1591	HP:0002013	Vomiting
OMIM:143880	CYP24A1	1591	HP:0004428	Elfin facies
OMIM:143880	CYP24A1	1591	HP:0008250	Infantile hypercalcemia
OMIM:143880	CYP24A1	1591	HP:0000007	Autosomal recessive inheritance
OMIM:143880	CYP24A1	1591	HP:0000179	Thick lower lip vermilion
OMIM:143880	CYP24A1	1591	HP:0001249	Intellectual disability
OMIM:143880	CYP24A1	1591	HP:0000478	Abnormality of the eye
OMIM:143880	CYP24A1	1591	HP:0001824	Weight loss
OMIM:143880	CYP24A1	1591	HP:0001944	Dehydration
OMIM:143880	CYP24A1	1591	HP:0001642	Pulmonic stenosis
ORPHA:803	TREM2	54209	HP:0000712	Emotional lability
ORPHA:803	TREM2	54209	HP:0000716	Depressivity
ORPHA:803	TREM2	54209	HP:0003394	Muscle cramps
ORPHA:803	TREM2	54209	HP:0003202	Skeletal muscle atrophy
ORPHA:803	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	TREM2	54209	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	TREM2	54209	HP:0003324	Generalized muscle weakness
ORPHA:803	TREM2	54209	HP:0003470	Paralysis
ORPHA:803	TREM2	54209	HP:0000217	Xerostomia
ORPHA:803	TREM2	54209	HP:0002094	Dyspnea
ORPHA:803	TREM2	54209	HP:0002180	Neurodegeneration
ORPHA:803	TREM2	54209	HP:0002878	Respiratory failure
ORPHA:803	TREM2	54209	HP:0000739	Anxiety
ORPHA:803	TREM2	54209	HP:0012531	Pain
ORPHA:803	TREM2	54209	HP:0012378	Fatigue
ORPHA:803	TREM2	54209	HP:0001257	Spasticity
ORPHA:803	TREM2	54209	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	VAPB	9217	HP:0000712	Emotional lability
ORPHA:803	VAPB	9217	HP:0000716	Depressivity
ORPHA:803	VAPB	9217	HP:0003394	Muscle cramps
ORPHA:803	VAPB	9217	HP:0003202	Skeletal muscle atrophy
ORPHA:803	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	VAPB	9217	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	VAPB	9217	HP:0003324	Generalized muscle weakness
ORPHA:803	VAPB	9217	HP:0003470	Paralysis
ORPHA:803	VAPB	9217	HP:0000217	Xerostomia
ORPHA:803	VAPB	9217	HP:0002094	Dyspnea
ORPHA:803	VAPB	9217	HP:0002180	Neurodegeneration
ORPHA:803	VAPB	9217	HP:0002878	Respiratory failure
ORPHA:803	VAPB	9217	HP:0000739	Anxiety
ORPHA:803	VAPB	9217	HP:0012531	Pain
ORPHA:803	VAPB	9217	HP:0012378	Fatigue
ORPHA:803	VAPB	9217	HP:0001257	Spasticity
ORPHA:803	VAPB	9217	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	CCNF	899	HP:0000712	Emotional lability
ORPHA:803	CCNF	899	HP:0000716	Depressivity
ORPHA:803	CCNF	899	HP:0003394	Muscle cramps
ORPHA:803	CCNF	899	HP:0003202	Skeletal muscle atrophy
ORPHA:803	CCNF	899	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	CCNF	899	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	CCNF	899	HP:0003324	Generalized muscle weakness
ORPHA:803	CCNF	899	HP:0003470	Paralysis
ORPHA:803	CCNF	899	HP:0000217	Xerostomia
ORPHA:803	CCNF	899	HP:0002094	Dyspnea
ORPHA:803	CCNF	899	HP:0002180	Neurodegeneration
ORPHA:803	CCNF	899	HP:0002878	Respiratory failure
ORPHA:803	CCNF	899	HP:0000739	Anxiety
ORPHA:803	CCNF	899	HP:0012531	Pain
ORPHA:803	CCNF	899	HP:0012378	Fatigue
ORPHA:803	CCNF	899	HP:0001257	Spasticity
ORPHA:803	CCNF	899	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PON1	5444	HP:0000712	Emotional lability
ORPHA:803	PON1	5444	HP:0000716	Depressivity
ORPHA:803	PON1	5444	HP:0003394	Muscle cramps
ORPHA:803	PON1	5444	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PON1	5444	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PON1	5444	HP:0003324	Generalized muscle weakness
ORPHA:803	PON1	5444	HP:0003470	Paralysis
ORPHA:803	PON1	5444	HP:0000217	Xerostomia
ORPHA:803	PON1	5444	HP:0002094	Dyspnea
ORPHA:803	PON1	5444	HP:0002180	Neurodegeneration
ORPHA:803	PON1	5444	HP:0002878	Respiratory failure
ORPHA:803	PON1	5444	HP:0000739	Anxiety
ORPHA:803	PON1	5444	HP:0012531	Pain
ORPHA:803	PON1	5444	HP:0012378	Fatigue
ORPHA:803	PON1	5444	HP:0001257	Spasticity
ORPHA:803	PON1	5444	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PON2	5445	HP:0000712	Emotional lability
ORPHA:803	PON2	5445	HP:0000716	Depressivity
ORPHA:803	PON2	5445	HP:0003394	Muscle cramps
ORPHA:803	PON2	5445	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PON2	5445	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PON2	5445	HP:0003324	Generalized muscle weakness
ORPHA:803	PON2	5445	HP:0003470	Paralysis
ORPHA:803	PON2	5445	HP:0000217	Xerostomia
ORPHA:803	PON2	5445	HP:0002094	Dyspnea
ORPHA:803	PON2	5445	HP:0002180	Neurodegeneration
ORPHA:803	PON2	5445	HP:0002878	Respiratory failure
ORPHA:803	PON2	5445	HP:0000739	Anxiety
ORPHA:803	PON2	5445	HP:0012531	Pain
ORPHA:803	PON2	5445	HP:0012378	Fatigue
ORPHA:803	PON2	5445	HP:0001257	Spasticity
ORPHA:803	PON2	5445	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PON3	5446	HP:0000712	Emotional lability
ORPHA:803	PON3	5446	HP:0000716	Depressivity
ORPHA:803	PON3	5446	HP:0003394	Muscle cramps
ORPHA:803	PON3	5446	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PON3	5446	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PON3	5446	HP:0003324	Generalized muscle weakness
ORPHA:803	PON3	5446	HP:0003470	Paralysis
ORPHA:803	PON3	5446	HP:0000217	Xerostomia
ORPHA:803	PON3	5446	HP:0002094	Dyspnea
ORPHA:803	PON3	5446	HP:0002180	Neurodegeneration
ORPHA:803	PON3	5446	HP:0002878	Respiratory failure
ORPHA:803	PON3	5446	HP:0000739	Anxiety
ORPHA:803	PON3	5446	HP:0012531	Pain
ORPHA:803	PON3	5446	HP:0012378	Fatigue
ORPHA:803	PON3	5446	HP:0001257	Spasticity
ORPHA:803	PON3	5446	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	NEFH	4744	HP:0000712	Emotional lability
ORPHA:803	NEFH	4744	HP:0000716	Depressivity
ORPHA:803	NEFH	4744	HP:0003394	Muscle cramps
ORPHA:803	NEFH	4744	HP:0003202	Skeletal muscle atrophy
ORPHA:803	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	NEFH	4744	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	NEFH	4744	HP:0003324	Generalized muscle weakness
ORPHA:803	NEFH	4744	HP:0003470	Paralysis
ORPHA:803	NEFH	4744	HP:0000217	Xerostomia
ORPHA:803	NEFH	4744	HP:0002094	Dyspnea
ORPHA:803	NEFH	4744	HP:0002180	Neurodegeneration
ORPHA:803	NEFH	4744	HP:0002878	Respiratory failure
ORPHA:803	NEFH	4744	HP:0000739	Anxiety
ORPHA:803	NEFH	4744	HP:0012531	Pain
ORPHA:803	NEFH	4744	HP:0012378	Fatigue
ORPHA:803	NEFH	4744	HP:0001257	Spasticity
ORPHA:803	NEFH	4744	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	DAO	1610	HP:0000712	Emotional lability
ORPHA:803	DAO	1610	HP:0000716	Depressivity
ORPHA:803	DAO	1610	HP:0003394	Muscle cramps
ORPHA:803	DAO	1610	HP:0003202	Skeletal muscle atrophy
ORPHA:803	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	DAO	1610	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	DAO	1610	HP:0003324	Generalized muscle weakness
ORPHA:803	DAO	1610	HP:0003470	Paralysis
ORPHA:803	DAO	1610	HP:0000217	Xerostomia
ORPHA:803	DAO	1610	HP:0002094	Dyspnea
ORPHA:803	DAO	1610	HP:0002180	Neurodegeneration
ORPHA:803	DAO	1610	HP:0002878	Respiratory failure
ORPHA:803	DAO	1610	HP:0000739	Anxiety
ORPHA:803	DAO	1610	HP:0012531	Pain
ORPHA:803	DAO	1610	HP:0012378	Fatigue
ORPHA:803	DAO	1610	HP:0001257	Spasticity
ORPHA:803	DAO	1610	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	TARDBP	23435	HP:0000712	Emotional lability
ORPHA:803	TARDBP	23435	HP:0000716	Depressivity
ORPHA:803	TARDBP	23435	HP:0003394	Muscle cramps
ORPHA:803	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
ORPHA:803	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	TARDBP	23435	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	TARDBP	23435	HP:0003324	Generalized muscle weakness
ORPHA:803	TARDBP	23435	HP:0003470	Paralysis
ORPHA:803	TARDBP	23435	HP:0000217	Xerostomia
ORPHA:803	TARDBP	23435	HP:0002094	Dyspnea
ORPHA:803	TARDBP	23435	HP:0002180	Neurodegeneration
ORPHA:803	TARDBP	23435	HP:0002878	Respiratory failure
ORPHA:803	TARDBP	23435	HP:0000739	Anxiety
ORPHA:803	TARDBP	23435	HP:0012531	Pain
ORPHA:803	TARDBP	23435	HP:0012378	Fatigue
ORPHA:803	TARDBP	23435	HP:0001257	Spasticity
ORPHA:803	TARDBP	23435	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PPARGC1A	10891	HP:0000712	Emotional lability
ORPHA:803	PPARGC1A	10891	HP:0000716	Depressivity
ORPHA:803	PPARGC1A	10891	HP:0003394	Muscle cramps
ORPHA:803	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PPARGC1A	10891	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PPARGC1A	10891	HP:0003324	Generalized muscle weakness
ORPHA:803	PPARGC1A	10891	HP:0003470	Paralysis
ORPHA:803	PPARGC1A	10891	HP:0000217	Xerostomia
ORPHA:803	PPARGC1A	10891	HP:0002094	Dyspnea
ORPHA:803	PPARGC1A	10891	HP:0002180	Neurodegeneration
ORPHA:803	PPARGC1A	10891	HP:0002878	Respiratory failure
ORPHA:803	PPARGC1A	10891	HP:0000739	Anxiety
ORPHA:803	PPARGC1A	10891	HP:0012531	Pain
ORPHA:803	PPARGC1A	10891	HP:0012378	Fatigue
ORPHA:803	PPARGC1A	10891	HP:0001257	Spasticity
ORPHA:803	PPARGC1A	10891	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	NEK1	4750	HP:0000712	Emotional lability
ORPHA:803	NEK1	4750	HP:0000716	Depressivity
ORPHA:803	NEK1	4750	HP:0003394	Muscle cramps
ORPHA:803	NEK1	4750	HP:0003202	Skeletal muscle atrophy
ORPHA:803	NEK1	4750	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	NEK1	4750	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	NEK1	4750	HP:0003324	Generalized muscle weakness
ORPHA:803	NEK1	4750	HP:0003470	Paralysis
ORPHA:803	NEK1	4750	HP:0000217	Xerostomia
ORPHA:803	NEK1	4750	HP:0002094	Dyspnea
ORPHA:803	NEK1	4750	HP:0002180	Neurodegeneration
ORPHA:803	NEK1	4750	HP:0002878	Respiratory failure
ORPHA:803	NEK1	4750	HP:0000739	Anxiety
ORPHA:803	NEK1	4750	HP:0012531	Pain
ORPHA:803	NEK1	4750	HP:0012378	Fatigue
ORPHA:803	NEK1	4750	HP:0001257	Spasticity
ORPHA:803	NEK1	4750	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	ERBB4	2066	HP:0000712	Emotional lability
ORPHA:803	ERBB4	2066	HP:0000716	Depressivity
ORPHA:803	ERBB4	2066	HP:0003394	Muscle cramps
ORPHA:803	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
ORPHA:803	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	ERBB4	2066	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	ERBB4	2066	HP:0003324	Generalized muscle weakness
ORPHA:803	ERBB4	2066	HP:0003470	Paralysis
ORPHA:803	ERBB4	2066	HP:0000217	Xerostomia
ORPHA:803	ERBB4	2066	HP:0002094	Dyspnea
ORPHA:803	ERBB4	2066	HP:0002180	Neurodegeneration
ORPHA:803	ERBB4	2066	HP:0002878	Respiratory failure
ORPHA:803	ERBB4	2066	HP:0000739	Anxiety
ORPHA:803	ERBB4	2066	HP:0012531	Pain
ORPHA:803	ERBB4	2066	HP:0012378	Fatigue
ORPHA:803	ERBB4	2066	HP:0001257	Spasticity
ORPHA:803	ERBB4	2066	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	CHCHD10	400916	HP:0000712	Emotional lability
ORPHA:803	CHCHD10	400916	HP:0000716	Depressivity
ORPHA:803	CHCHD10	400916	HP:0003394	Muscle cramps
ORPHA:803	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
ORPHA:803	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	CHCHD10	400916	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	CHCHD10	400916	HP:0003324	Generalized muscle weakness
ORPHA:803	CHCHD10	400916	HP:0003470	Paralysis
ORPHA:803	CHCHD10	400916	HP:0000217	Xerostomia
ORPHA:803	CHCHD10	400916	HP:0002094	Dyspnea
ORPHA:803	CHCHD10	400916	HP:0002180	Neurodegeneration
ORPHA:803	CHCHD10	400916	HP:0002878	Respiratory failure
ORPHA:803	CHCHD10	400916	HP:0000739	Anxiety
ORPHA:803	CHCHD10	400916	HP:0012531	Pain
ORPHA:803	CHCHD10	400916	HP:0012378	Fatigue
ORPHA:803	CHCHD10	400916	HP:0001257	Spasticity
ORPHA:803	CHCHD10	400916	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	TAF15	8148	HP:0000712	Emotional lability
ORPHA:803	TAF15	8148	HP:0000716	Depressivity
ORPHA:803	TAF15	8148	HP:0003394	Muscle cramps
ORPHA:803	TAF15	8148	HP:0003202	Skeletal muscle atrophy
ORPHA:803	TAF15	8148	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	TAF15	8148	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	TAF15	8148	HP:0003324	Generalized muscle weakness
ORPHA:803	TAF15	8148	HP:0003470	Paralysis
ORPHA:803	TAF15	8148	HP:0000217	Xerostomia
ORPHA:803	TAF15	8148	HP:0002094	Dyspnea
ORPHA:803	TAF15	8148	HP:0002180	Neurodegeneration
ORPHA:803	TAF15	8148	HP:0002878	Respiratory failure
ORPHA:803	TAF15	8148	HP:0000739	Anxiety
ORPHA:803	TAF15	8148	HP:0012531	Pain
ORPHA:803	TAF15	8148	HP:0012378	Fatigue
ORPHA:803	TAF15	8148	HP:0001257	Spasticity
ORPHA:803	TAF15	8148	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	OPTN	10133	HP:0000712	Emotional lability
ORPHA:803	OPTN	10133	HP:0000716	Depressivity
ORPHA:803	OPTN	10133	HP:0003394	Muscle cramps
ORPHA:803	OPTN	10133	HP:0003202	Skeletal muscle atrophy
ORPHA:803	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	OPTN	10133	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	OPTN	10133	HP:0003324	Generalized muscle weakness
ORPHA:803	OPTN	10133	HP:0003470	Paralysis
ORPHA:803	OPTN	10133	HP:0000217	Xerostomia
ORPHA:803	OPTN	10133	HP:0002094	Dyspnea
ORPHA:803	OPTN	10133	HP:0002180	Neurodegeneration
ORPHA:803	OPTN	10133	HP:0002878	Respiratory failure
ORPHA:803	OPTN	10133	HP:0000739	Anxiety
ORPHA:803	OPTN	10133	HP:0012531	Pain
ORPHA:803	OPTN	10133	HP:0012378	Fatigue
ORPHA:803	OPTN	10133	HP:0001257	Spasticity
ORPHA:803	OPTN	10133	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	FUS	2521	HP:0000712	Emotional lability
ORPHA:803	FUS	2521	HP:0000716	Depressivity
ORPHA:803	FUS	2521	HP:0003394	Muscle cramps
ORPHA:803	FUS	2521	HP:0003202	Skeletal muscle atrophy
ORPHA:803	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	FUS	2521	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	FUS	2521	HP:0003324	Generalized muscle weakness
ORPHA:803	FUS	2521	HP:0003470	Paralysis
ORPHA:803	FUS	2521	HP:0000217	Xerostomia
ORPHA:803	FUS	2521	HP:0002094	Dyspnea
ORPHA:803	FUS	2521	HP:0002180	Neurodegeneration
ORPHA:803	FUS	2521	HP:0002878	Respiratory failure
ORPHA:803	FUS	2521	HP:0000739	Anxiety
ORPHA:803	FUS	2521	HP:0012531	Pain
ORPHA:803	FUS	2521	HP:0012378	Fatigue
ORPHA:803	FUS	2521	HP:0001257	Spasticity
ORPHA:803	FUS	2521	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	UBQLN2	29978	HP:0000712	Emotional lability
ORPHA:803	UBQLN2	29978	HP:0000716	Depressivity
ORPHA:803	UBQLN2	29978	HP:0003394	Muscle cramps
ORPHA:803	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
ORPHA:803	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	UBQLN2	29978	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	UBQLN2	29978	HP:0003324	Generalized muscle weakness
ORPHA:803	UBQLN2	29978	HP:0003470	Paralysis
ORPHA:803	UBQLN2	29978	HP:0000217	Xerostomia
ORPHA:803	UBQLN2	29978	HP:0002094	Dyspnea
ORPHA:803	UBQLN2	29978	HP:0002180	Neurodegeneration
ORPHA:803	UBQLN2	29978	HP:0002878	Respiratory failure
ORPHA:803	UBQLN2	29978	HP:0000739	Anxiety
ORPHA:803	UBQLN2	29978	HP:0012531	Pain
ORPHA:803	UBQLN2	29978	HP:0012378	Fatigue
ORPHA:803	UBQLN2	29978	HP:0001257	Spasticity
ORPHA:803	UBQLN2	29978	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	ANG	283	HP:0000712	Emotional lability
ORPHA:803	ANG	283	HP:0000716	Depressivity
ORPHA:803	ANG	283	HP:0003394	Muscle cramps
ORPHA:803	ANG	283	HP:0003202	Skeletal muscle atrophy
ORPHA:803	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	ANG	283	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	ANG	283	HP:0003324	Generalized muscle weakness
ORPHA:803	ANG	283	HP:0003470	Paralysis
ORPHA:803	ANG	283	HP:0000217	Xerostomia
ORPHA:803	ANG	283	HP:0002094	Dyspnea
ORPHA:803	ANG	283	HP:0002180	Neurodegeneration
ORPHA:803	ANG	283	HP:0002878	Respiratory failure
ORPHA:803	ANG	283	HP:0000739	Anxiety
ORPHA:803	ANG	283	HP:0012531	Pain
ORPHA:803	ANG	283	HP:0012378	Fatigue
ORPHA:803	ANG	283	HP:0001257	Spasticity
ORPHA:803	ANG	283	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	C9ORF72	203228	HP:0000712	Emotional lability
ORPHA:803	C9ORF72	203228	HP:0000716	Depressivity
ORPHA:803	C9ORF72	203228	HP:0003394	Muscle cramps
ORPHA:803	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
ORPHA:803	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	C9ORF72	203228	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	C9ORF72	203228	HP:0003324	Generalized muscle weakness
ORPHA:803	C9ORF72	203228	HP:0003470	Paralysis
ORPHA:803	C9ORF72	203228	HP:0000217	Xerostomia
ORPHA:803	C9ORF72	203228	HP:0002094	Dyspnea
ORPHA:803	C9ORF72	203228	HP:0002180	Neurodegeneration
ORPHA:803	C9ORF72	203228	HP:0002878	Respiratory failure
ORPHA:803	C9ORF72	203228	HP:0000739	Anxiety
ORPHA:803	C9ORF72	203228	HP:0012531	Pain
ORPHA:803	C9ORF72	203228	HP:0012378	Fatigue
ORPHA:803	C9ORF72	203228	HP:0001257	Spasticity
ORPHA:803	C9ORF72	203228	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PFN1	5216	HP:0000712	Emotional lability
ORPHA:803	PFN1	5216	HP:0000716	Depressivity
ORPHA:803	PFN1	5216	HP:0003394	Muscle cramps
ORPHA:803	PFN1	5216	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PFN1	5216	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PFN1	5216	HP:0003324	Generalized muscle weakness
ORPHA:803	PFN1	5216	HP:0003470	Paralysis
ORPHA:803	PFN1	5216	HP:0000217	Xerostomia
ORPHA:803	PFN1	5216	HP:0002094	Dyspnea
ORPHA:803	PFN1	5216	HP:0002180	Neurodegeneration
ORPHA:803	PFN1	5216	HP:0002878	Respiratory failure
ORPHA:803	PFN1	5216	HP:0000739	Anxiety
ORPHA:803	PFN1	5216	HP:0012531	Pain
ORPHA:803	PFN1	5216	HP:0012378	Fatigue
ORPHA:803	PFN1	5216	HP:0001257	Spasticity
ORPHA:803	PFN1	5216	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	ATXN2	6311	HP:0000712	Emotional lability
ORPHA:803	ATXN2	6311	HP:0000716	Depressivity
ORPHA:803	ATXN2	6311	HP:0003394	Muscle cramps
ORPHA:803	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
ORPHA:803	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	ATXN2	6311	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	ATXN2	6311	HP:0003324	Generalized muscle weakness
ORPHA:803	ATXN2	6311	HP:0003470	Paralysis
ORPHA:803	ATXN2	6311	HP:0000217	Xerostomia
ORPHA:803	ATXN2	6311	HP:0002094	Dyspnea
ORPHA:803	ATXN2	6311	HP:0002180	Neurodegeneration
ORPHA:803	ATXN2	6311	HP:0002878	Respiratory failure
ORPHA:803	ATXN2	6311	HP:0000739	Anxiety
ORPHA:803	ATXN2	6311	HP:0012531	Pain
ORPHA:803	ATXN2	6311	HP:0012378	Fatigue
ORPHA:803	ATXN2	6311	HP:0001257	Spasticity
ORPHA:803	ATXN2	6311	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	DCTN1	1639	HP:0000712	Emotional lability
ORPHA:803	DCTN1	1639	HP:0000716	Depressivity
ORPHA:803	DCTN1	1639	HP:0003394	Muscle cramps
ORPHA:803	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
ORPHA:803	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	DCTN1	1639	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	DCTN1	1639	HP:0003324	Generalized muscle weakness
ORPHA:803	DCTN1	1639	HP:0003470	Paralysis
ORPHA:803	DCTN1	1639	HP:0000217	Xerostomia
ORPHA:803	DCTN1	1639	HP:0002094	Dyspnea
ORPHA:803	DCTN1	1639	HP:0002180	Neurodegeneration
ORPHA:803	DCTN1	1639	HP:0002878	Respiratory failure
ORPHA:803	DCTN1	1639	HP:0000739	Anxiety
ORPHA:803	DCTN1	1639	HP:0012531	Pain
ORPHA:803	DCTN1	1639	HP:0012378	Fatigue
ORPHA:803	DCTN1	1639	HP:0001257	Spasticity
ORPHA:803	DCTN1	1639	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	FIG4	9896	HP:0000712	Emotional lability
ORPHA:803	FIG4	9896	HP:0000716	Depressivity
ORPHA:803	FIG4	9896	HP:0003394	Muscle cramps
ORPHA:803	FIG4	9896	HP:0003202	Skeletal muscle atrophy
ORPHA:803	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	FIG4	9896	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	FIG4	9896	HP:0003324	Generalized muscle weakness
ORPHA:803	FIG4	9896	HP:0003470	Paralysis
ORPHA:803	FIG4	9896	HP:0000217	Xerostomia
ORPHA:803	FIG4	9896	HP:0002094	Dyspnea
ORPHA:803	FIG4	9896	HP:0002180	Neurodegeneration
ORPHA:803	FIG4	9896	HP:0002878	Respiratory failure
ORPHA:803	FIG4	9896	HP:0000739	Anxiety
ORPHA:803	FIG4	9896	HP:0012531	Pain
ORPHA:803	FIG4	9896	HP:0012378	Fatigue
ORPHA:803	FIG4	9896	HP:0001257	Spasticity
ORPHA:803	FIG4	9896	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	HNRNPA1	3178	HP:0000712	Emotional lability
ORPHA:803	HNRNPA1	3178	HP:0000716	Depressivity
ORPHA:803	HNRNPA1	3178	HP:0003394	Muscle cramps
ORPHA:803	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
ORPHA:803	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	HNRNPA1	3178	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	HNRNPA1	3178	HP:0003324	Generalized muscle weakness
ORPHA:803	HNRNPA1	3178	HP:0003470	Paralysis
ORPHA:803	HNRNPA1	3178	HP:0000217	Xerostomia
ORPHA:803	HNRNPA1	3178	HP:0002094	Dyspnea
ORPHA:803	HNRNPA1	3178	HP:0002180	Neurodegeneration
ORPHA:803	HNRNPA1	3178	HP:0002878	Respiratory failure
ORPHA:803	HNRNPA1	3178	HP:0000739	Anxiety
ORPHA:803	HNRNPA1	3178	HP:0012531	Pain
ORPHA:803	HNRNPA1	3178	HP:0012378	Fatigue
ORPHA:803	HNRNPA1	3178	HP:0001257	Spasticity
ORPHA:803	HNRNPA1	3178	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	GLE1	2733	HP:0000712	Emotional lability
ORPHA:803	GLE1	2733	HP:0000716	Depressivity
ORPHA:803	GLE1	2733	HP:0003394	Muscle cramps
ORPHA:803	GLE1	2733	HP:0003202	Skeletal muscle atrophy
ORPHA:803	GLE1	2733	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	GLE1	2733	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	GLE1	2733	HP:0003324	Generalized muscle weakness
ORPHA:803	GLE1	2733	HP:0003470	Paralysis
ORPHA:803	GLE1	2733	HP:0000217	Xerostomia
ORPHA:803	GLE1	2733	HP:0002094	Dyspnea
ORPHA:803	GLE1	2733	HP:0002180	Neurodegeneration
ORPHA:803	GLE1	2733	HP:0002878	Respiratory failure
ORPHA:803	GLE1	2733	HP:0000739	Anxiety
ORPHA:803	GLE1	2733	HP:0012531	Pain
ORPHA:803	GLE1	2733	HP:0012378	Fatigue
ORPHA:803	GLE1	2733	HP:0001257	Spasticity
ORPHA:803	GLE1	2733	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	SQSTM1	8878	HP:0000712	Emotional lability
ORPHA:803	SQSTM1	8878	HP:0000716	Depressivity
ORPHA:803	SQSTM1	8878	HP:0003394	Muscle cramps
ORPHA:803	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
ORPHA:803	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	SQSTM1	8878	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	SQSTM1	8878	HP:0003324	Generalized muscle weakness
ORPHA:803	SQSTM1	8878	HP:0003470	Paralysis
ORPHA:803	SQSTM1	8878	HP:0000217	Xerostomia
ORPHA:803	SQSTM1	8878	HP:0002094	Dyspnea
ORPHA:803	SQSTM1	8878	HP:0002180	Neurodegeneration
ORPHA:803	SQSTM1	8878	HP:0002878	Respiratory failure
ORPHA:803	SQSTM1	8878	HP:0000739	Anxiety
ORPHA:803	SQSTM1	8878	HP:0012531	Pain
ORPHA:803	SQSTM1	8878	HP:0012378	Fatigue
ORPHA:803	SQSTM1	8878	HP:0001257	Spasticity
ORPHA:803	SQSTM1	8878	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	UNC13A	23025	HP:0000712	Emotional lability
ORPHA:803	UNC13A	23025	HP:0000716	Depressivity
ORPHA:803	UNC13A	23025	HP:0003394	Muscle cramps
ORPHA:803	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
ORPHA:803	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	UNC13A	23025	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	UNC13A	23025	HP:0003324	Generalized muscle weakness
ORPHA:803	UNC13A	23025	HP:0003470	Paralysis
ORPHA:803	UNC13A	23025	HP:0000217	Xerostomia
ORPHA:803	UNC13A	23025	HP:0002094	Dyspnea
ORPHA:803	UNC13A	23025	HP:0002180	Neurodegeneration
ORPHA:803	UNC13A	23025	HP:0002878	Respiratory failure
ORPHA:803	UNC13A	23025	HP:0000739	Anxiety
ORPHA:803	UNC13A	23025	HP:0012531	Pain
ORPHA:803	UNC13A	23025	HP:0012378	Fatigue
ORPHA:803	UNC13A	23025	HP:0001257	Spasticity
ORPHA:803	UNC13A	23025	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	C21ORF2	755	HP:0000712	Emotional lability
ORPHA:803	C21ORF2	755	HP:0000716	Depressivity
ORPHA:803	C21ORF2	755	HP:0003394	Muscle cramps
ORPHA:803	C21ORF2	755	HP:0003202	Skeletal muscle atrophy
ORPHA:803	C21ORF2	755	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	C21ORF2	755	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	C21ORF2	755	HP:0003324	Generalized muscle weakness
ORPHA:803	C21ORF2	755	HP:0003470	Paralysis
ORPHA:803	C21ORF2	755	HP:0000217	Xerostomia
ORPHA:803	C21ORF2	755	HP:0002094	Dyspnea
ORPHA:803	C21ORF2	755	HP:0002180	Neurodegeneration
ORPHA:803	C21ORF2	755	HP:0002878	Respiratory failure
ORPHA:803	C21ORF2	755	HP:0000739	Anxiety
ORPHA:803	C21ORF2	755	HP:0012531	Pain
ORPHA:803	C21ORF2	755	HP:0012378	Fatigue
ORPHA:803	C21ORF2	755	HP:0001257	Spasticity
ORPHA:803	C21ORF2	755	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	MATR3	9782	HP:0000712	Emotional lability
ORPHA:803	MATR3	9782	HP:0000716	Depressivity
ORPHA:803	MATR3	9782	HP:0003394	Muscle cramps
ORPHA:803	MATR3	9782	HP:0003202	Skeletal muscle atrophy
ORPHA:803	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	MATR3	9782	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	MATR3	9782	HP:0003324	Generalized muscle weakness
ORPHA:803	MATR3	9782	HP:0003470	Paralysis
ORPHA:803	MATR3	9782	HP:0000217	Xerostomia
ORPHA:803	MATR3	9782	HP:0002094	Dyspnea
ORPHA:803	MATR3	9782	HP:0002180	Neurodegeneration
ORPHA:803	MATR3	9782	HP:0002878	Respiratory failure
ORPHA:803	MATR3	9782	HP:0000739	Anxiety
ORPHA:803	MATR3	9782	HP:0012531	Pain
ORPHA:803	MATR3	9782	HP:0012378	Fatigue
ORPHA:803	MATR3	9782	HP:0001257	Spasticity
ORPHA:803	MATR3	9782	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	TBK1	29110	HP:0000712	Emotional lability
ORPHA:803	TBK1	29110	HP:0000716	Depressivity
ORPHA:803	TBK1	29110	HP:0003394	Muscle cramps
ORPHA:803	TBK1	29110	HP:0003202	Skeletal muscle atrophy
ORPHA:803	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	TBK1	29110	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	TBK1	29110	HP:0003324	Generalized muscle weakness
ORPHA:803	TBK1	29110	HP:0003470	Paralysis
ORPHA:803	TBK1	29110	HP:0000217	Xerostomia
ORPHA:803	TBK1	29110	HP:0002094	Dyspnea
ORPHA:803	TBK1	29110	HP:0002180	Neurodegeneration
ORPHA:803	TBK1	29110	HP:0002878	Respiratory failure
ORPHA:803	TBK1	29110	HP:0000739	Anxiety
ORPHA:803	TBK1	29110	HP:0012531	Pain
ORPHA:803	TBK1	29110	HP:0012378	Fatigue
ORPHA:803	TBK1	29110	HP:0001257	Spasticity
ORPHA:803	TBK1	29110	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	SOD1	6647	HP:0000712	Emotional lability
ORPHA:803	SOD1	6647	HP:0000716	Depressivity
ORPHA:803	SOD1	6647	HP:0003394	Muscle cramps
ORPHA:803	SOD1	6647	HP:0003202	Skeletal muscle atrophy
ORPHA:803	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	SOD1	6647	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	SOD1	6647	HP:0003324	Generalized muscle weakness
ORPHA:803	SOD1	6647	HP:0003470	Paralysis
ORPHA:803	SOD1	6647	HP:0000217	Xerostomia
ORPHA:803	SOD1	6647	HP:0002094	Dyspnea
ORPHA:803	SOD1	6647	HP:0002180	Neurodegeneration
ORPHA:803	SOD1	6647	HP:0002878	Respiratory failure
ORPHA:803	SOD1	6647	HP:0000739	Anxiety
ORPHA:803	SOD1	6647	HP:0012531	Pain
ORPHA:803	SOD1	6647	HP:0012378	Fatigue
ORPHA:803	SOD1	6647	HP:0001257	Spasticity
ORPHA:803	SOD1	6647	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	VCP	7415	HP:0000712	Emotional lability
ORPHA:803	VCP	7415	HP:0000716	Depressivity
ORPHA:803	VCP	7415	HP:0003394	Muscle cramps
ORPHA:803	VCP	7415	HP:0003202	Skeletal muscle atrophy
ORPHA:803	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	VCP	7415	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	VCP	7415	HP:0003324	Generalized muscle weakness
ORPHA:803	VCP	7415	HP:0003470	Paralysis
ORPHA:803	VCP	7415	HP:0000217	Xerostomia
ORPHA:803	VCP	7415	HP:0002094	Dyspnea
ORPHA:803	VCP	7415	HP:0002180	Neurodegeneration
ORPHA:803	VCP	7415	HP:0002878	Respiratory failure
ORPHA:803	VCP	7415	HP:0000739	Anxiety
ORPHA:803	VCP	7415	HP:0012531	Pain
ORPHA:803	VCP	7415	HP:0012378	Fatigue
ORPHA:803	VCP	7415	HP:0001257	Spasticity
ORPHA:803	VCP	7415	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	CHMP2B	25978	HP:0000712	Emotional lability
ORPHA:803	CHMP2B	25978	HP:0000716	Depressivity
ORPHA:803	CHMP2B	25978	HP:0003394	Muscle cramps
ORPHA:803	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
ORPHA:803	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	CHMP2B	25978	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	CHMP2B	25978	HP:0003324	Generalized muscle weakness
ORPHA:803	CHMP2B	25978	HP:0003470	Paralysis
ORPHA:803	CHMP2B	25978	HP:0000217	Xerostomia
ORPHA:803	CHMP2B	25978	HP:0002094	Dyspnea
ORPHA:803	CHMP2B	25978	HP:0002180	Neurodegeneration
ORPHA:803	CHMP2B	25978	HP:0002878	Respiratory failure
ORPHA:803	CHMP2B	25978	HP:0000739	Anxiety
ORPHA:803	CHMP2B	25978	HP:0012531	Pain
ORPHA:803	CHMP2B	25978	HP:0012378	Fatigue
ORPHA:803	CHMP2B	25978	HP:0001257	Spasticity
ORPHA:803	CHMP2B	25978	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	EPHA4	2043	HP:0000712	Emotional lability
ORPHA:803	EPHA4	2043	HP:0000716	Depressivity
ORPHA:803	EPHA4	2043	HP:0003394	Muscle cramps
ORPHA:803	EPHA4	2043	HP:0003202	Skeletal muscle atrophy
ORPHA:803	EPHA4	2043	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	EPHA4	2043	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	EPHA4	2043	HP:0003324	Generalized muscle weakness
ORPHA:803	EPHA4	2043	HP:0003470	Paralysis
ORPHA:803	EPHA4	2043	HP:0000217	Xerostomia
ORPHA:803	EPHA4	2043	HP:0002094	Dyspnea
ORPHA:803	EPHA4	2043	HP:0002180	Neurodegeneration
ORPHA:803	EPHA4	2043	HP:0002878	Respiratory failure
ORPHA:803	EPHA4	2043	HP:0000739	Anxiety
ORPHA:803	EPHA4	2043	HP:0012531	Pain
ORPHA:803	EPHA4	2043	HP:0012378	Fatigue
ORPHA:803	EPHA4	2043	HP:0001257	Spasticity
ORPHA:803	EPHA4	2043	HP:0030195	Fatigable weakness of swallowing muscles
ORPHA:803	PRPH	5630	HP:0000712	Emotional lability
ORPHA:803	PRPH	5630	HP:0000716	Depressivity
ORPHA:803	PRPH	5630	HP:0003394	Muscle cramps
ORPHA:803	PRPH	5630	HP:0003202	Skeletal muscle atrophy
ORPHA:803	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:803	PRPH	5630	HP:0030196	Fatigable weakness of respiratory muscles
ORPHA:803	PRPH	5630	HP:0003324	Generalized muscle weakness
ORPHA:803	PRPH	5630	HP:0003470	Paralysis
ORPHA:803	PRPH	5630	HP:0000217	Xerostomia
ORPHA:803	PRPH	5630	HP:0002094	Dyspnea
ORPHA:803	PRPH	5630	HP:0002180	Neurodegeneration
ORPHA:803	PRPH	5630	HP:0002878	Respiratory failure
ORPHA:803	PRPH	5630	HP:0000739	Anxiety
ORPHA:803	PRPH	5630	HP:0012531	Pain
ORPHA:803	PRPH	5630	HP:0012378	Fatigue
ORPHA:803	PRPH	5630	HP:0001257	Spasticity
ORPHA:803	PRPH	5630	HP:0030195	Fatigable weakness of swallowing muscles
OMIM:612075	RRM2B	50484	HP:0003128	Lactic acidosis
OMIM:612075	RRM2B	50484	HP:0003355	Aminoaciduria
OMIM:612075	RRM2B	50484	HP:0003676	Progressive
OMIM:612075	RRM2B	50484	HP:0004326	Cachexia
OMIM:612075	RRM2B	50484	HP:0001249	Intellectual disability
OMIM:612075	RRM2B	50484	HP:0001250	Seizures
OMIM:612075	RRM2B	50484	HP:0002066	Gait ataxia
OMIM:612075	RRM2B	50484	HP:0001290	Generalized hypotonia
OMIM:612075	RRM2B	50484	HP:0000544	External ophthalmoplegia
OMIM:612075	RRM2B	50484	HP:0000007	Autosomal recessive inheritance
OMIM:612075	RRM2B	50484	HP:0000114	Proximal tubulopathy
OMIM:612075	RRM2B	50484	HP:0002344	Progressive neurologic deterioration
OMIM:612075	RRM2B	50484	HP:0011968	Feeding difficulties
OMIM:612075	RRM2B	50484	HP:0001508	Failure to thrive
ORPHA:2250	SMCHD1	23347	HP:0009023	Abdominal wall muscle weakness
ORPHA:2250	SMCHD1	23347	HP:0000528	Anophthalmia
ORPHA:2250	SMCHD1	23347	HP:0000618	Blindness
ORPHA:2250	SMCHD1	23347	HP:0040326	Hypoplasia of the olfactory bulb
ORPHA:2250	SMCHD1	23347	HP:0000028	Cryptorchidism
ORPHA:2250	SMCHD1	23347	HP:0000309	Abnormality of the midface
ORPHA:2250	SMCHD1	23347	HP:0000458	Anosmia
ORPHA:2250	SMCHD1	23347	HP:0000771	Gynecomastia
ORPHA:2250	SMCHD1	23347	HP:0000692	Misalignment of teeth
ORPHA:2250	SMCHD1	23347	HP:0000568	Microphthalmia
ORPHA:2250	SMCHD1	23347	HP:0000572	Visual loss
ORPHA:2250	SMCHD1	23347	HP:0100596	Absent nares
ORPHA:2250	SMCHD1	23347	HP:0000518	Cataract
ORPHA:2250	SMCHD1	23347	HP:0006352	Failure of eruption of permanent teeth
ORPHA:2250	SMCHD1	23347	HP:0000135	Hypogonadism
ORPHA:2250	SMCHD1	23347	HP:0008736	Hypoplasia of penis
ORPHA:2250	SMCHD1	23347	HP:0009932	Single naris
ORPHA:2250	SMCHD1	23347	HP:0000023	Inguinal hernia
ORPHA:2250	SMCHD1	23347	HP:0004409	Hyposmia
ORPHA:2250	SMCHD1	23347	HP:0000646	Amblyopia
ORPHA:2250	SMCHD1	23347	HP:0000612	Iris coloboma
OMIM:610102	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C7	730	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C7	730	HP:0004431	Complement deficiency
ORPHA:71277	SLC2A1	6513	HP:0003470	Paralysis
ORPHA:71277	SLC2A1	6513	HP:0001260	Dysarthria
ORPHA:71277	SLC2A1	6513	HP:0002353	EEG abnormality
ORPHA:71277	SLC2A1	6513	HP:0011972	Hypoglycorrhachia
ORPHA:71277	SLC2A1	6513	HP:0001263	Global developmental delay
ORPHA:71277	SLC2A1	6513	HP:0000253	Progressive microcephaly
ORPHA:71277	SLC2A1	6513	HP:0001877	Abnormality of erythrocytes
ORPHA:71277	SLC2A1	6513	HP:0007034	Generalized hyperreflexia
ORPHA:71277	SLC2A1	6513	HP:0001254	Lethargy
ORPHA:71277	SLC2A1	6513	HP:0003552	Muscle stiffness
ORPHA:71277	SLC2A1	6513	HP:0001266	Choreoathetosis
ORPHA:71277	SLC2A1	6513	HP:0007308	Extrapyramidal dyskinesia
ORPHA:71277	SLC2A1	6513	HP:0001289	Confusion
ORPHA:71277	SLC2A1	6513	HP:0001257	Spasticity
ORPHA:71277	SLC2A1	6513	HP:0001251	Ataxia
ORPHA:71277	SLC2A1	6513	HP:0001298	Encephalopathy
ORPHA:71277	SLC2A1	6513	HP:0007704	Paroxysmal involuntary eye movements
ORPHA:71277	SLC2A1	6513	HP:0001249	Intellectual disability
ORPHA:71277	SLC2A1	6513	HP:0000750	Delayed speech and language development
ORPHA:71277	SLC2A1	6513	HP:0001269	Hemiparesis
ORPHA:71277	SLC2A1	6513	HP:0002315	Headache
ORPHA:71277	SLC2A1	6513	HP:0000961	Cyanosis
ORPHA:71277	SLC2A1	6513	HP:0001332	Dystonia
ORPHA:71277	SLC2A1	6513	HP:0002133	Status epilepticus
ORPHA:99872	BRAF	673	HP:0200036	Skin nodule
ORPHA:99872	BRAF	673	HP:0100730	Bronchogenic cyst
ORPHA:99872	BRAF	673	HP:0200034	Papule
ORPHA:99872	BRAF	673	HP:0009719	Hypomelanotic macule
ORPHA:99872	BRAF	673	HP:0002797	Osteolysis
OMIM:602483	GNAI3	2773	HP:0008537	Cleft at the superior portion of the pinna
OMIM:602483	GNAI3	2773	HP:0000358	Posteriorly rotated ears
OMIM:602483	GNAI3	2773	HP:0005216	Chewing difficulties
OMIM:602483	GNAI3	2773	HP:0000384	Preauricular skin tag
OMIM:602483	GNAI3	2773	HP:0004451	Postauricular skin tag
OMIM:602483	GNAI3	2773	HP:0007627	Mandibular condyle aplasia
OMIM:602483	GNAI3	2773	HP:0025267	Snoring
OMIM:602483	GNAI3	2773	HP:0000678	Dental crowding
OMIM:602483	GNAI3	2773	HP:0000175	Cleft palate
OMIM:602483	GNAI3	2773	HP:0009102	Anterior open-bite malocclusion
OMIM:602483	GNAI3	2773	HP:0000256	Macrocephaly
OMIM:602483	GNAI3	2773	HP:0004453	Overfolding of the superior helices
OMIM:602483	GNAI3	2773	HP:0000006	Autosomal dominant inheritance
OMIM:602483	GNAI3	2773	HP:0008559	Hypoplastic superior helix
OMIM:602483	GNAI3	2773	HP:0009088	Speech articulation difficulties
OMIM:602483	GNAI3	2773	HP:0000378	Cupped ear
OMIM:602483	GNAI3	2773	HP:0000689	Dental malocclusion
OMIM:602483	GNAI3	2773	HP:0000369	Low-set ears
OMIM:602483	GNAI3	2773	HP:0000311	Round face
OMIM:602483	GNAI3	2773	HP:0007628	Mandibular condyle hypoplasia
OMIM:602483	GNAI3	2773	HP:0002104	Apnea
OMIM:613151	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:613151	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:613151	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:613151	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613151	POMGNT1	55624	HP:0000486	Strabismus
OMIM:613151	POMGNT1	55624	HP:0000545	Myopia
OMIM:613151	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:613151	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613151	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:613151	POMGNT1	55624	HP:0001270	Motor delay
OMIM:613151	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:613151	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:613151	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:612580	CDH15	1013	HP:0001249	Intellectual disability
OMIM:612580	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:615067	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC114	93233	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615067	CCDC114	93233	HP:0012256	Absent outer dynein arms
OMIM:615067	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615067	CCDC114	93233	HP:0012735	Cough
OMIM:615067	CCDC114	93233	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC114	93233	HP:0100750	Atelectasis
OMIM:615067	CCDC114	93233	HP:0012265	Ciliary dyskinesia
OMIM:612954	BAG3	9531	HP:0003447	Axonal loss
OMIM:612954	BAG3	9531	HP:0001265	Hyporeflexia
OMIM:612954	BAG3	9531	HP:0003715	Myofibrillar myopathy
OMIM:612954	BAG3	9531	HP:0006597	Diaphragmatic paralysis
OMIM:612954	BAG3	9531	HP:0002650	Scoliosis
OMIM:612954	BAG3	9531	HP:0003678	Rapidly progressive
OMIM:612954	BAG3	9531	HP:0002093	Respiratory insufficiency
OMIM:612954	BAG3	9531	HP:0003388	Easy fatigability
OMIM:612954	BAG3	9531	HP:0007108	Demyelinating peripheral neuropathy
OMIM:612954	BAG3	9531	HP:0002936	Distal sensory impairment
OMIM:612954	BAG3	9531	HP:0010628	Facial palsy
OMIM:612954	BAG3	9531	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612954	BAG3	9531	HP:0003458	EMG: myopathic abnormalities
OMIM:612954	BAG3	9531	HP:0001761	Pes cavus
OMIM:612954	BAG3	9531	HP:0001611	Nasal speech
OMIM:612954	BAG3	9531	HP:0003560	Muscular dystrophy
OMIM:612954	BAG3	9531	HP:0003306	Spinal rigidity
OMIM:612954	BAG3	9531	HP:0003700	Generalized amyotrophy
OMIM:612954	BAG3	9531	HP:0006380	Knee flexion contracture
OMIM:612954	BAG3	9531	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612954	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:607903	DSG4	147409	HP:0000989	Pruritus
OMIM:607903	DSG4	147409	HP:0000535	Sparse and thin eyebrow
OMIM:607903	DSG4	147409	HP:0000007	Autosomal recessive inheritance
OMIM:607903	DSG4	147409	HP:0000653	Sparse eyelashes
OMIM:607903	DSG4	147409	HP:0007502	Follicular hyperkeratosis
OMIM:607903	DSG4	147409	HP:0001006	Hypotrichosis
OMIM:607903	DSG4	147409	HP:0010783	Erythema
OMIM:607903	DSG4	147409	HP:0002299	Brittle hair
ORPHA:93111	HNF1B	6928	HP:0000819	Diabetes mellitus
ORPHA:93111	HNF1B	6928	HP:0000003	Multicystic kidney dysplasia
ORPHA:93111	HNF4A	3172	HP:0000819	Diabetes mellitus
ORPHA:93111	HNF4A	3172	HP:0000003	Multicystic kidney dysplasia
ORPHA:95159	UROD	7389	HP:0000992	Cutaneous photosensitivity
ORPHA:95159	UROD	7389	HP:0001878	Hemolytic anemia
ORPHA:95159	UROD	7389	HP:0000963	Thin skin
OMIM:611783	EPAS1	2034	HP:0000006	Autosomal dominant inheritance
OMIM:611783	EPAS1	2034	HP:0001899	Increased hematocrit
OMIM:611783	EPAS1	2034	HP:0001900	Increased hemoglobin
OMIM:616777	TRAIP	10293	HP:0000062	Ambiguous genitalia
OMIM:616777	TRAIP	10293	HP:0001518	Small for gestational age
OMIM:616777	TRAIP	10293	HP:0000010	Recurrent urinary tract infections
OMIM:616777	TRAIP	10293	HP:0001631	Atrial septal defect
OMIM:616777	TRAIP	10293	HP:0001561	Polyhydramnios
OMIM:616777	TRAIP	10293	HP:0001762	Talipes equinovarus
OMIM:616777	TRAIP	10293	HP:0000007	Autosomal recessive inheritance
OMIM:616777	TRAIP	10293	HP:0008665	Clitoral hypertrophy
OMIM:616777	TRAIP	10293	HP:0000444	Convex nasal ridge
OMIM:616777	TRAIP	10293	HP:0001558	Decreased fetal movement
OMIM:616777	TRAIP	10293	HP:0000998	Hypertrichosis
OMIM:616777	TRAIP	10293	HP:0001629	Ventricular septal defect
OMIM:616777	TRAIP	10293	HP:0000776	Congenital diaphragmatic hernia
OMIM:617070	DGUOK	1716	HP:0100543	Cognitive impairment
OMIM:617070	DGUOK	1716	HP:0003477	Peripheral axonal neuropathy
OMIM:617070	DGUOK	1716	HP:0003701	Proximal muscle weakness
OMIM:617070	DGUOK	1716	HP:0003581	Adult onset
OMIM:617070	DGUOK	1716	HP:0002460	Distal muscle weakness
OMIM:617070	DGUOK	1716	HP:0002151	Increased serum lactate
OMIM:617070	DGUOK	1716	HP:0003737	Mitochondrial myopathy
OMIM:617070	DGUOK	1716	HP:0003202	Skeletal muscle atrophy
OMIM:617070	DGUOK	1716	HP:0000590	Progressive external ophthalmoplegia
OMIM:617070	DGUOK	1716	HP:0000407	Sensorineural hearing impairment
OMIM:617070	DGUOK	1716	HP:0001618	Dysphonia
OMIM:617070	DGUOK	1716	HP:0003200	Ragged-red muscle fibers
OMIM:617070	DGUOK	1716	HP:0000007	Autosomal recessive inheritance
OMIM:617070	DGUOK	1716	HP:0000508	Ptosis
OMIM:617070	DGUOK	1716	HP:0002120	Cerebral cortical atrophy
OMIM:617070	DGUOK	1716	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617070	DGUOK	1716	HP:0001265	Hyporeflexia
OMIM:607313	ROBO3	64221	HP:0000007	Autosomal recessive inheritance
OMIM:607313	ROBO3	64221	HP:0007817	Horizontal supranuclear gaze palsy
OMIM:607313	ROBO3	64221	HP:0003577	Congenital onset
OMIM:607313	ROBO3	64221	HP:0002944	Thoracolumbar scoliosis
OMIM:607313	ROBO3	64221	HP:0007650	Progressive ophthalmoplegia
OMIM:614486	THBD	7056	HP:0002625	Deep venous thrombosis
OMIM:614486	THBD	7056	HP:0100724	Hypercoagulability
OMIM:614741	MPC1	51660	HP:0003128	Lactic acidosis
OMIM:614741	MPC1	51660	HP:0001263	Global developmental delay
OMIM:614741	MPC1	51660	HP:0001992	Organic aciduria
OMIM:614741	MPC1	51660	HP:0002240	Hepatomegaly
OMIM:614741	MPC1	51660	HP:0003577	Congenital onset
OMIM:614741	MPC1	51660	HP:0001943	Hypoglycemia
OMIM:614741	MPC1	51660	HP:0002151	Increased serum lactate
OMIM:614741	MPC1	51660	HP:0003542	Increased serum pyruvate
OMIM:614741	MPC1	51660	HP:0000007	Autosomal recessive inheritance
OMIM:614741	MPC1	51660	HP:0001290	Generalized hypotonia
OMIM:614741	MPC1	51660	HP:0003828	Variable expressivity
OMIM:608898	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:608898	UNC13D	201294	HP:0011900	Hypofibrinogenemia
OMIM:608898	UNC13D	201294	HP:0012156	Hemophagocytosis
OMIM:608898	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:608898	UNC13D	201294	HP:0001433	Hepatosplenomegaly
OMIM:608898	UNC13D	201294	HP:0001945	Fever
OMIM:617478	TMEM260	54916	HP:0012020	Right aortic arch
OMIM:617478	TMEM260	54916	HP:0000083	Renal insufficiency
OMIM:617478	TMEM260	54916	HP:0007430	Generalized edema
OMIM:617478	TMEM260	54916	HP:0001660	Truncus arteriosus
OMIM:617478	TMEM260	54916	HP:0011611	Interrupted aortic arch
OMIM:617478	TMEM260	54916	HP:0001636	Tetralogy of Fallot
OMIM:617478	TMEM260	54916	HP:0000107	Renal cyst
OMIM:617478	TMEM260	54916	HP:0001629	Ventricular septal defect
OMIM:617478	TMEM260	54916	HP:0001631	Atrial septal defect
OMIM:617478	TMEM260	54916	HP:0005301	Persistent left superior vena cava
OMIM:617478	TMEM260	54916	HP:0010773	Partial anomalous pulmonary venous return
OMIM:617478	TMEM260	54916	HP:0000252	Microcephaly
OMIM:617478	TMEM260	54916	HP:0000007	Autosomal recessive inheritance
OMIM:616647	ITPA	3704	HP:0002188	Delayed CNS myelination
OMIM:616647	ITPA	3704	HP:0001620	High pitched voice
OMIM:616647	ITPA	3704	HP:0000737	Irritability
OMIM:616647	ITPA	3704	HP:0000007	Autosomal recessive inheritance
OMIM:616647	ITPA	3704	HP:0001298	Encephalopathy
OMIM:616647	ITPA	3704	HP:0006829	Severe muscular hypotonia
OMIM:616647	ITPA	3704	HP:0012444	Brain atrophy
OMIM:616647	ITPA	3704	HP:0002133	Status epilepticus
OMIM:616647	ITPA	3704	HP:0200085	Limb tremor
OMIM:616647	ITPA	3704	HP:0003593	Infantile onset
OMIM:616647	ITPA	3704	HP:0001522	Death in infancy
OMIM:616647	ITPA	3704	HP:0002059	Cerebral atrophy
OMIM:616647	ITPA	3704	HP:0001511	Intrauterine growth retardation
OMIM:615946	SLC39A5	283375	HP:0000545	Myopia
OMIM:615946	SLC39A5	283375	HP:0000006	Autosomal dominant inheritance
OMIM:613309	RPS26	6231	HP:0003593	Infantile onset
OMIM:613309	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:613309	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:613309	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:604321	KNL1	57082	HP:0000007	Autosomal recessive inheritance
OMIM:604321	KNL1	57082	HP:0001249	Intellectual disability
OMIM:604321	KNL1	57082	HP:0000252	Microcephaly
OMIM:604321	KNL1	57082	HP:0100710	Impulsivity
OMIM:604321	KNL1	57082	HP:0000718	Aggressive behavior
OMIM:604321	KNL1	57082	HP:0001335	Bimanual synkinesia
ORPHA:1239	OPA1	4976	HP:0000486	Strabismus
ORPHA:1239	OPA1	4976	HP:0000505	Visual impairment
ORPHA:1239	OPA1	4976	HP:0000648	Optic atrophy
ORPHA:1239	OPA1	4976	HP:0000639	Nystagmus
ORPHA:1239	OPA1	4976	HP:0001249	Intellectual disability
ORPHA:1239	OPA1	4976	HP:0000551	Abnormality of color vision
ORPHA:1239	OPA1	4976	HP:0001251	Ataxia
ORPHA:1239	OPA1	4976	HP:0001257	Spasticity
ORPHA:1239	C19ORF12	83636	HP:0000486	Strabismus
ORPHA:1239	C19ORF12	83636	HP:0000505	Visual impairment
ORPHA:1239	C19ORF12	83636	HP:0000648	Optic atrophy
ORPHA:1239	C19ORF12	83636	HP:0000639	Nystagmus
ORPHA:1239	C19ORF12	83636	HP:0001249	Intellectual disability
ORPHA:1239	C19ORF12	83636	HP:0000551	Abnormality of color vision
ORPHA:1239	C19ORF12	83636	HP:0001251	Ataxia
ORPHA:1239	C19ORF12	83636	HP:0001257	Spasticity
ORPHA:1239	C12ORF65	91574	HP:0000486	Strabismus
ORPHA:1239	C12ORF65	91574	HP:0000505	Visual impairment
ORPHA:1239	C12ORF65	91574	HP:0000648	Optic atrophy
ORPHA:1239	C12ORF65	91574	HP:0000639	Nystagmus
ORPHA:1239	C12ORF65	91574	HP:0001249	Intellectual disability
ORPHA:1239	C12ORF65	91574	HP:0000551	Abnormality of color vision
ORPHA:1239	C12ORF65	91574	HP:0001251	Ataxia
ORPHA:1239	C12ORF65	91574	HP:0001257	Spasticity
ORPHA:79242	HLCS	3141	HP:0000737	Irritability
ORPHA:79242	HLCS	3141	HP:0002017	Nausea and vomiting
ORPHA:79242	HLCS	3141	HP:0001096	Keratoconjunctivitis
ORPHA:79242	HLCS	3141	HP:0001250	Seizures
ORPHA:79242	HLCS	3141	HP:0002039	Anorexia
ORPHA:79242	HLCS	3141	HP:0001824	Weight loss
ORPHA:79242	HLCS	3141	HP:0002789	Tachypnea
ORPHA:79242	HLCS	3141	HP:0002098	Respiratory distress
ORPHA:79242	HLCS	3141	HP:0001510	Growth delay
ORPHA:79242	HLCS	3141	HP:0001987	Hyperammonemia
ORPHA:79242	HLCS	3141	HP:0011127	Perioral eczema
ORPHA:79242	HLCS	3141	HP:0001252	Muscular hypotonia
ORPHA:79242	HLCS	3141	HP:0001992	Organic aciduria
OMIM:616108	RDH11	51109	HP:0000582	Upslanted palpebral fissure
OMIM:616108	RDH11	51109	HP:0000272	Malar flattening
OMIM:616108	RDH11	51109	HP:0000687	Widely spaced teeth
OMIM:616108	RDH11	51109	HP:0000007	Autosomal recessive inheritance
OMIM:616108	RDH11	51109	HP:0004322	Short stature
OMIM:616108	RDH11	51109	HP:0000556	Retinal dystrophy
OMIM:616108	RDH11	51109	HP:0001263	Global developmental delay
OMIM:616108	RDH11	51109	HP:0000689	Dental malocclusion
OMIM:612319	FA2H	79152	HP:0003676	Progressive
OMIM:612319	FA2H	79152	HP:0000648	Optic atrophy
OMIM:612319	FA2H	79152	HP:0000007	Autosomal recessive inheritance
OMIM:612319	FA2H	79152	HP:0001258	Spastic paraplegia
OMIM:612319	FA2H	79152	HP:0001260	Dysarthria
OMIM:612319	FA2H	79152	HP:0000486	Strabismus
OMIM:612319	FA2H	79152	HP:0001249	Intellectual disability
OMIM:612319	FA2H	79152	HP:0001285	Spastic tetraparesis
OMIM:612319	FA2H	79152	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612319	FA2H	79152	HP:0000639	Nystagmus
OMIM:612319	FA2H	79152	HP:0002061	Lower limb spasticity
OMIM:612319	FA2H	79152	HP:0002355	Difficulty walking
OMIM:612319	FA2H	79152	HP:0002313	Spastic paraparesis
OMIM:612319	FA2H	79152	HP:0003487	Babinski sign
OMIM:612319	FA2H	79152	HP:0006978	Dysmyelinating leukodystrophy
OMIM:612319	FA2H	79152	HP:0002180	Neurodegeneration
OMIM:612319	FA2H	79152	HP:0001332	Dystonia
OMIM:612319	FA2H	79152	HP:0000012	Urinary urgency
OMIM:612319	FA2H	79152	HP:0001310	Dysmetria
OMIM:612319	FA2H	79152	HP:0001268	Mental deterioration
OMIM:612319	FA2H	79152	HP:0001250	Seizures
OMIM:612319	FA2H	79152	HP:0001272	Cerebellar atrophy
OMIM:612319	FA2H	79152	HP:0002518	Abnormality of the periventricular white matter
OMIM:612319	FA2H	79152	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:274400	SLC5A5	6528	HP:0000821	Hypothyroidism
OMIM:274400	SLC5A5	6528	HP:0000853	Goiter
OMIM:274400	SLC5A5	6528	HP:0002019	Constipation
OMIM:274400	SLC5A5	6528	HP:0000158	Macroglossia
OMIM:274400	SLC5A5	6528	HP:0001510	Growth delay
OMIM:274400	SLC5A5	6528	HP:0001249	Intellectual disability
OMIM:274400	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274400	SLC5A5	6528	HP:0001254	Lethargy
OMIM:274400	SLC5A5	6528	HP:0000958	Dry skin
OMIM:274400	SLC5A5	6528	HP:0001537	Umbilical hernia
ORPHA:63260	DACT1	51339	HP:0002475	Myelomeningocele
ORPHA:63260	DACT1	51339	HP:0002323	Anencephaly
ORPHA:63260	DACT1	51339	HP:0005857	Cervical spina bifida
ORPHA:847	ATRX	546	HP:0011800	Midface retrusion
ORPHA:847	ATRX	546	HP:0000463	Anteverted nares
ORPHA:847	ATRX	546	HP:0012736	Profound global developmental delay
ORPHA:847	ATRX	546	HP:0000717	Autism
ORPHA:847	ATRX	546	HP:0000062	Ambiguous genitalia
ORPHA:847	ATRX	546	HP:0001249	Intellectual disability
ORPHA:847	ATRX	546	HP:0004322	Short stature
ORPHA:847	ATRX	546	HP:0011902	Abnormal hemoglobin
ORPHA:847	ATRX	546	HP:0001762	Talipes equinovarus
ORPHA:847	ATRX	546	HP:0000158	Macroglossia
ORPHA:847	ATRX	546	HP:0002357	Dysphasia
ORPHA:847	ATRX	546	HP:0001250	Seizures
ORPHA:847	ATRX	546	HP:0000179	Thick lower lip vermilion
ORPHA:847	ATRX	546	HP:0000316	Hypertelorism
ORPHA:847	ATRX	546	HP:0012368	Flat face
ORPHA:847	ATRX	546	HP:0000457	Depressed nasal ridge
ORPHA:847	ATRX	546	HP:0000037	Male pseudohermaphroditism
ORPHA:847	ATRX	546	HP:0001252	Muscular hypotonia
ORPHA:847	ATRX	546	HP:0008736	Hypoplasia of penis
ORPHA:847	ATRX	546	HP:0010804	Tented upper lip vermilion
ORPHA:847	ATRX	546	HP:0000232	Everted lower lip vermilion
ORPHA:847	ATRX	546	HP:0000506	Telecanthus
ORPHA:847	ATRX	546	HP:0002020	Gastroesophageal reflux
ORPHA:847	ATRX	546	HP:0010806	U-Shaped upper lip vermilion
ORPHA:847	ATRX	546	HP:0000252	Microcephaly
ORPHA:847	ATRX	546	HP:0000286	Epicanthus
ORPHA:847	ATRX	546	HP:0000028	Cryptorchidism
ORPHA:847	ATRX	546	HP:0011328	Abnormality of fontanelles
ORPHA:869	AAAS	8086	HP:0000505	Visual impairment
ORPHA:869	AAAS	8086	HP:0000846	Adrenal insufficiency
ORPHA:869	AAAS	8086	HP:0002571	Achalasia
ORPHA:869	AAAS	8086	HP:0007440	Generalized hyperpigmentation
ORPHA:869	AAAS	8086	HP:0000982	Palmoplantar keratoderma
ORPHA:869	AAAS	8086	HP:0001250	Seizures
ORPHA:869	AAAS	8086	HP:0004322	Short stature
ORPHA:869	GMPPA	29926	HP:0000505	Visual impairment
ORPHA:869	GMPPA	29926	HP:0000846	Adrenal insufficiency
ORPHA:869	GMPPA	29926	HP:0002571	Achalasia
ORPHA:869	GMPPA	29926	HP:0007440	Generalized hyperpigmentation
ORPHA:869	GMPPA	29926	HP:0000982	Palmoplantar keratoderma
ORPHA:869	GMPPA	29926	HP:0001250	Seizures
ORPHA:869	GMPPA	29926	HP:0004322	Short stature
ORPHA:869	TRAPPC11	60684	HP:0000505	Visual impairment
ORPHA:869	TRAPPC11	60684	HP:0000846	Adrenal insufficiency
ORPHA:869	TRAPPC11	60684	HP:0002571	Achalasia
ORPHA:869	TRAPPC11	60684	HP:0007440	Generalized hyperpigmentation
ORPHA:869	TRAPPC11	60684	HP:0000982	Palmoplantar keratoderma
ORPHA:869	TRAPPC11	60684	HP:0001250	Seizures
ORPHA:869	TRAPPC11	60684	HP:0004322	Short stature
OMIM:251900	TRNW	4578	HP:0001290	Generalized hypotonia
OMIM:251900	TRNW	4578	HP:0000158	Macroglossia
OMIM:251900	TRNW	4578	HP:0001270	Motor delay
OMIM:251900	TRNW	4578	HP:0002240	Hepatomegaly
OMIM:251900	TRNW	4578	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:251900	TRNW	4578	HP:0001324	Muscle weakness
OMIM:251900	TRNW	4578	HP:0003737	Mitochondrial myopathy
OMIM:251900	TRNW	4578	HP:0001265	Hyporeflexia
OMIM:609820	EGLN1	54583	HP:0001899	Increased hematocrit
OMIM:609820	EGLN1	54583	HP:0000006	Autosomal dominant inheritance
OMIM:609820	EGLN1	54583	HP:0001900	Increased hemoglobin
OMIM:609820	EGLN1	54583	HP:0001898	Increased red blood cell mass
ORPHA:1001	HDAC4	9759	HP:0010761	Broad columella
ORPHA:1001	HDAC4	9759	HP:0010049	Short metacarpal
ORPHA:1001	HDAC4	9759	HP:0000233	Thin vermilion border
ORPHA:1001	HDAC4	9759	HP:0001513	Obesity
ORPHA:1001	HDAC4	9759	HP:0000430	Underdeveloped nasal alae
ORPHA:1001	HDAC4	9759	HP:0000311	Round face
ORPHA:1001	HDAC4	9759	HP:0001537	Umbilical hernia
ORPHA:1001	HDAC4	9759	HP:0000535	Sparse and thin eyebrow
ORPHA:1001	HDAC4	9759	HP:0000252	Microcephaly
ORPHA:1001	HDAC4	9759	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1001	HDAC4	9759	HP:0004279	Short palm
ORPHA:1001	HDAC4	9759	HP:0002558	Supernumerary nipple
ORPHA:1001	HDAC4	9759	HP:0001156	Brachydactyly
ORPHA:1001	HDAC4	9759	HP:0006101	Finger syndactyly
ORPHA:1001	HDAC4	9759	HP:0001250	Seizures
ORPHA:1001	HDAC4	9759	HP:0000490	Deeply set eye
ORPHA:1001	HDAC4	9759	HP:0001252	Muscular hypotonia
ORPHA:1001	HDAC4	9759	HP:0001770	Toe syndactyly
ORPHA:1001	HDAC4	9759	HP:0000463	Anteverted nares
ORPHA:1001	HDAC4	9759	HP:0004322	Short stature
ORPHA:1001	HDAC4	9759	HP:0005692	Joint hyperflexibility
ORPHA:1001	HDAC4	9759	HP:0011800	Midface retrusion
ORPHA:1001	HDAC4	9759	HP:0002553	Highly arched eyebrow
ORPHA:1001	HDAC4	9759	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1001	HDAC4	9759	HP:0002209	Sparse scalp hair
ORPHA:1001	HDAC4	9759	HP:0005280	Depressed nasal bridge
ORPHA:1001	HDAC4	9759	HP:0001263	Global developmental delay
ORPHA:1001	HDAC4	9759	HP:0000964	Eczema
ORPHA:1001	HDAC4	9759	HP:0002714	Downturned corners of mouth
ORPHA:1001	HDAC4	9759	HP:0000582	Upslanted palpebral fissure
ORPHA:1001	HDAC4	9759	HP:0002007	Frontal bossing
ORPHA:1001	HDAC4	9759	HP:0200055	Small hand
ORPHA:1001	HDAC4	9759	HP:0001249	Intellectual disability
ORPHA:1001	HDAC4	9759	HP:0001773	Short foot
ORPHA:1001	HDAC4	9759	HP:0006610	Wide intermamillary distance
OMIM:616488	PRDM12	59335	HP:0012804	Corneal ulceration
OMIM:616488	PRDM12	59335	HP:0000966	Hypohidrosis
OMIM:616488	PRDM12	59335	HP:0000559	Corneal scarring
OMIM:616488	PRDM12	59335	HP:0000007	Autosomal recessive inheritance
ORPHA:36367	ZBTB18	10472	HP:0000311	Round face
ORPHA:36367	ZBTB18	10472	HP:0000319	Smooth philtrum
ORPHA:36367	ZBTB18	10472	HP:0004322	Short stature
ORPHA:36367	ZBTB18	10472	HP:0000233	Thin vermilion border
ORPHA:36367	ZBTB18	10472	HP:0011220	Prominent forehead
ORPHA:36367	ZBTB18	10472	HP:0005280	Depressed nasal bridge
ORPHA:36367	ZBTB18	10472	HP:0000286	Epicanthus
ORPHA:36367	ZBTB18	10472	HP:0000316	Hypertelorism
ORPHA:36367	ZBTB18	10472	HP:0001250	Seizures
ORPHA:36367	ZBTB18	10472	HP:0000369	Low-set ears
ORPHA:36367	ZBTB18	10472	HP:0000347	Micrognathia
ORPHA:36367	ZBTB18	10472	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:36367	ZBTB18	10472	HP:0001249	Intellectual disability
ORPHA:36367	ZBTB18	10472	HP:0000252	Microcephaly
ORPHA:36367	ZBTB18	10472	HP:0001263	Global developmental delay
OMIM:615631	C15ORF41	84529	HP:0000980	Pallor
OMIM:615631	C15ORF41	84529	HP:0001923	Reticulocytosis
OMIM:615631	C15ORF41	84529	HP:0010972	Anemia of inadequate production
OMIM:615631	C15ORF41	84529	HP:0002240	Hepatomegaly
OMIM:615631	C15ORF41	84529	HP:0000952	Jaundice
OMIM:615631	C15ORF41	84529	HP:0011273	Anisocytosis
OMIM:615631	C15ORF41	84529	HP:0012132	Erythroid hyperplasia
OMIM:615631	C15ORF41	84529	HP:0004447	Poikilocytosis
OMIM:615631	C15ORF41	84529	HP:0000007	Autosomal recessive inheritance
OMIM:615631	C15ORF41	84529	HP:0001744	Splenomegaly
OMIM:241530	SLC34A3	142680	HP:0000886	Deformed rib cage
OMIM:241530	SLC34A3	142680	HP:0002653	Bone pain
OMIM:241530	SLC34A3	142680	HP:0000124	Renal tubular dysfunction
OMIM:241530	SLC34A3	142680	HP:0002150	Hypercalciuria
OMIM:241530	SLC34A3	142680	HP:0002753	Thin bony cortex
OMIM:241530	SLC34A3	142680	HP:0003025	Metaphyseal irregularity
OMIM:241530	SLC34A3	142680	HP:0003029	Enlargement of the ankles
OMIM:241530	SLC34A3	142680	HP:0002148	Hypophosphatemia
OMIM:241530	SLC34A3	142680	HP:0001438	Abnormality of abdomen morphology
OMIM:241530	SLC34A3	142680	HP:0003152	Increased serum 1,25-dihydroxyvitamin D3
OMIM:241530	SLC34A3	142680	HP:0000007	Autosomal recessive inheritance
OMIM:241530	SLC34A3	142680	HP:0003020	Enlargement of the wrists
OMIM:241530	SLC34A3	142680	HP:0003155	Elevated alkaline phosphatase
OMIM:241530	SLC34A3	142680	HP:0002748	Rickets
OMIM:241530	SLC34A3	142680	HP:0003593	Infantile onset
OMIM:241530	SLC34A3	142680	HP:0002982	Tibial bowing
OMIM:241530	SLC34A3	142680	HP:0005469	Flat occiput
OMIM:241530	SLC34A3	142680	HP:0000117	Renal phosphate wasting
OMIM:241530	SLC34A3	142680	HP:0002979	Bowing of the legs
OMIM:241530	SLC34A3	142680	HP:0000893	Bulging of the costochondral junction
OMIM:241530	SLC34A3	142680	HP:0002752	Sparse bone trabeculae
OMIM:241530	SLC34A3	142680	HP:0004492	Widely patent fontanelles and sutures
OMIM:241530	SLC34A3	142680	HP:0002663	Delayed epiphyseal ossification
OMIM:241530	SLC34A3	142680	HP:0010502	Fibular bowing
OMIM:241530	SLC34A3	142680	HP:0002007	Frontal bossing
OMIM:241530	SLC34A3	142680	HP:0000920	Enlargement of the costochondral junction
OMIM:241530	SLC34A3	142680	HP:0003013	Bulging epiphyses
OMIM:241530	SLC34A3	142680	HP:0002757	Recurrent fractures
OMIM:241530	SLC34A3	142680	HP:0001290	Generalized hypotonia
OMIM:241530	SLC34A3	142680	HP:0004724	Calcium nephrolithiasis
OMIM:241530	SLC34A3	142680	HP:0001510	Growth delay
OMIM:241530	SLC34A3	142680	HP:0002355	Difficulty walking
OMIM:241530	SLC34A3	142680	HP:0001324	Muscle weakness
OMIM:241530	SLC34A3	142680	HP:0001508	Failure to thrive
OMIM:241530	SLC34A3	142680	HP:0003698	Difficulty standing
OMIM:241530	SLC34A3	142680	HP:0002980	Femoral bowing
OMIM:241530	SLC34A3	142680	HP:0004912	Hypophosphatemic rickets
OMIM:609135	TERT	7015	HP:0001915	Aplastic anemia
OMIM:609135	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:609135	NBN	4683	HP:0001915	Aplastic anemia
OMIM:609135	NBN	4683	HP:0005528	Bone marrow hypocellularity
OMIM:609135	PRF1	5551	HP:0001915	Aplastic anemia
OMIM:609135	PRF1	5551	HP:0005528	Bone marrow hypocellularity
OMIM:209300	TF	7018	HP:0001392	Abnormality of the liver
OMIM:209300	TF	7018	HP:0001931	Hypochromic anemia
OMIM:209300	TF	7018	HP:0000007	Autosomal recessive inheritance
OMIM:209300	TF	7018	HP:0001635	Congestive heart failure
OMIM:209300	TF	7018	HP:0012239	Atransferrinemia
OMIM:614618	SLC6A5	9152	HP:0000007	Autosomal recessive inheritance
OMIM:614618	SLC6A5	9152	HP:0003593	Infantile onset
OMIM:614618	SLC6A5	9152	HP:0002267	Exaggerated startle response
OMIM:614618	SLC6A5	9152	HP:0000006	Autosomal dominant inheritance
OMIM:614618	SLC6A5	9152	HP:0002104	Apnea
OMIM:614618	SLC6A5	9152	HP:0001276	Hypertonia
OMIM:614618	SLC6A5	9152	HP:0003552	Muscle stiffness
ORPHA:648	RIT1	6016	HP:0005692	Joint hyperflexibility
ORPHA:648	RIT1	6016	HP:0001252	Muscular hypotonia
ORPHA:648	RIT1	6016	HP:0008872	Feeding difficulties in infancy
ORPHA:648	RIT1	6016	HP:0001892	Abnormal bleeding
ORPHA:648	RIT1	6016	HP:0000768	Pectus carinatum
ORPHA:648	RIT1	6016	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	RIT1	6016	HP:0000520	Proptosis
ORPHA:648	RIT1	6016	HP:0001743	Abnormality of the spleen
ORPHA:648	RIT1	6016	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	RIT1	6016	HP:0011800	Midface retrusion
ORPHA:648	RIT1	6016	HP:0000179	Thick lower lip vermilion
ORPHA:648	RIT1	6016	HP:0000391	Thickened helices
ORPHA:648	RIT1	6016	HP:0000486	Strabismus
ORPHA:648	RIT1	6016	HP:0002240	Hepatomegaly
ORPHA:648	RIT1	6016	HP:0002162	Low posterior hairline
ORPHA:648	RIT1	6016	HP:0000767	Pectus excavatum
ORPHA:648	RIT1	6016	HP:0000348	High forehead
ORPHA:648	RIT1	6016	HP:0002750	Delayed skeletal maturation
ORPHA:648	RIT1	6016	HP:0002650	Scoliosis
ORPHA:648	RIT1	6016	HP:0011362	Abnormal hair quantity
ORPHA:648	RIT1	6016	HP:0000316	Hypertelorism
ORPHA:648	RIT1	6016	HP:0000508	Ptosis
ORPHA:648	RIT1	6016	HP:0100625	Enlarged thorax
ORPHA:648	RIT1	6016	HP:0000494	Downslanted palpebral fissures
ORPHA:648	RIT1	6016	HP:0011675	Arrhythmia
ORPHA:648	RIT1	6016	HP:0006610	Wide intermamillary distance
ORPHA:648	RIT1	6016	HP:0000474	Thickened nuchal skin fold
ORPHA:648	RIT1	6016	HP:0001260	Dysarthria
ORPHA:648	RIT1	6016	HP:0001928	Abnormality of coagulation
ORPHA:648	RIT1	6016	HP:0004415	Pulmonary artery stenosis
ORPHA:648	RIT1	6016	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	RIT1	6016	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	RIT1	6016	HP:0000465	Webbed neck
ORPHA:648	RIT1	6016	HP:0011869	Abnormal platelet function
ORPHA:648	RIT1	6016	HP:0000347	Micrognathia
ORPHA:648	RIT1	6016	HP:0004322	Short stature
ORPHA:648	RIT1	6016	HP:0001324	Muscle weakness
ORPHA:648	RIT1	6016	HP:0000476	Cystic hygroma
ORPHA:648	RIT1	6016	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	RIT1	6016	HP:0000218	High palate
ORPHA:648	RIT1	6016	HP:0000028	Cryptorchidism
ORPHA:648	RIT1	6016	HP:0000325	Triangular face
ORPHA:648	RIT1	6016	HP:0002208	Coarse hair
ORPHA:648	BRAF	673	HP:0005692	Joint hyperflexibility
ORPHA:648	BRAF	673	HP:0001252	Muscular hypotonia
ORPHA:648	BRAF	673	HP:0008872	Feeding difficulties in infancy
ORPHA:648	BRAF	673	HP:0001892	Abnormal bleeding
ORPHA:648	BRAF	673	HP:0000768	Pectus carinatum
ORPHA:648	BRAF	673	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	BRAF	673	HP:0000520	Proptosis
ORPHA:648	BRAF	673	HP:0001743	Abnormality of the spleen
ORPHA:648	BRAF	673	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	BRAF	673	HP:0011800	Midface retrusion
ORPHA:648	BRAF	673	HP:0000179	Thick lower lip vermilion
ORPHA:648	BRAF	673	HP:0000391	Thickened helices
ORPHA:648	BRAF	673	HP:0000486	Strabismus
ORPHA:648	BRAF	673	HP:0002240	Hepatomegaly
ORPHA:648	BRAF	673	HP:0002162	Low posterior hairline
ORPHA:648	BRAF	673	HP:0000767	Pectus excavatum
ORPHA:648	BRAF	673	HP:0000348	High forehead
ORPHA:648	BRAF	673	HP:0002750	Delayed skeletal maturation
ORPHA:648	BRAF	673	HP:0002650	Scoliosis
ORPHA:648	BRAF	673	HP:0011362	Abnormal hair quantity
ORPHA:648	BRAF	673	HP:0000316	Hypertelorism
ORPHA:648	BRAF	673	HP:0000508	Ptosis
ORPHA:648	BRAF	673	HP:0100625	Enlarged thorax
ORPHA:648	BRAF	673	HP:0000494	Downslanted palpebral fissures
ORPHA:648	BRAF	673	HP:0011675	Arrhythmia
ORPHA:648	BRAF	673	HP:0006610	Wide intermamillary distance
ORPHA:648	BRAF	673	HP:0000474	Thickened nuchal skin fold
ORPHA:648	BRAF	673	HP:0001260	Dysarthria
ORPHA:648	BRAF	673	HP:0001928	Abnormality of coagulation
ORPHA:648	BRAF	673	HP:0004415	Pulmonary artery stenosis
ORPHA:648	BRAF	673	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	BRAF	673	HP:0000465	Webbed neck
ORPHA:648	BRAF	673	HP:0011869	Abnormal platelet function
ORPHA:648	BRAF	673	HP:0000347	Micrognathia
ORPHA:648	BRAF	673	HP:0004322	Short stature
ORPHA:648	BRAF	673	HP:0001324	Muscle weakness
ORPHA:648	BRAF	673	HP:0000476	Cystic hygroma
ORPHA:648	BRAF	673	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	BRAF	673	HP:0000218	High palate
ORPHA:648	BRAF	673	HP:0000028	Cryptorchidism
ORPHA:648	BRAF	673	HP:0000325	Triangular face
ORPHA:648	BRAF	673	HP:0002208	Coarse hair
ORPHA:648	KAT6B	23522	HP:0005692	Joint hyperflexibility
ORPHA:648	KAT6B	23522	HP:0001252	Muscular hypotonia
ORPHA:648	KAT6B	23522	HP:0008872	Feeding difficulties in infancy
ORPHA:648	KAT6B	23522	HP:0001892	Abnormal bleeding
ORPHA:648	KAT6B	23522	HP:0000768	Pectus carinatum
ORPHA:648	KAT6B	23522	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	KAT6B	23522	HP:0000520	Proptosis
ORPHA:648	KAT6B	23522	HP:0001743	Abnormality of the spleen
ORPHA:648	KAT6B	23522	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	KAT6B	23522	HP:0011800	Midface retrusion
ORPHA:648	KAT6B	23522	HP:0000179	Thick lower lip vermilion
ORPHA:648	KAT6B	23522	HP:0000391	Thickened helices
ORPHA:648	KAT6B	23522	HP:0000486	Strabismus
ORPHA:648	KAT6B	23522	HP:0002240	Hepatomegaly
ORPHA:648	KAT6B	23522	HP:0002162	Low posterior hairline
ORPHA:648	KAT6B	23522	HP:0000767	Pectus excavatum
ORPHA:648	KAT6B	23522	HP:0000348	High forehead
ORPHA:648	KAT6B	23522	HP:0002750	Delayed skeletal maturation
ORPHA:648	KAT6B	23522	HP:0002650	Scoliosis
ORPHA:648	KAT6B	23522	HP:0011362	Abnormal hair quantity
ORPHA:648	KAT6B	23522	HP:0000316	Hypertelorism
ORPHA:648	KAT6B	23522	HP:0000508	Ptosis
ORPHA:648	KAT6B	23522	HP:0100625	Enlarged thorax
ORPHA:648	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
ORPHA:648	KAT6B	23522	HP:0011675	Arrhythmia
ORPHA:648	KAT6B	23522	HP:0006610	Wide intermamillary distance
ORPHA:648	KAT6B	23522	HP:0000474	Thickened nuchal skin fold
ORPHA:648	KAT6B	23522	HP:0001260	Dysarthria
ORPHA:648	KAT6B	23522	HP:0001928	Abnormality of coagulation
ORPHA:648	KAT6B	23522	HP:0004415	Pulmonary artery stenosis
ORPHA:648	KAT6B	23522	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	KAT6B	23522	HP:0000465	Webbed neck
ORPHA:648	KAT6B	23522	HP:0011869	Abnormal platelet function
ORPHA:648	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:648	KAT6B	23522	HP:0004322	Short stature
ORPHA:648	KAT6B	23522	HP:0001324	Muscle weakness
ORPHA:648	KAT6B	23522	HP:0000476	Cystic hygroma
ORPHA:648	KAT6B	23522	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	KAT6B	23522	HP:0000218	High palate
ORPHA:648	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:648	KAT6B	23522	HP:0000325	Triangular face
ORPHA:648	KAT6B	23522	HP:0002208	Coarse hair
ORPHA:648	RASA2	5922	HP:0005692	Joint hyperflexibility
ORPHA:648	RASA2	5922	HP:0001252	Muscular hypotonia
ORPHA:648	RASA2	5922	HP:0008872	Feeding difficulties in infancy
ORPHA:648	RASA2	5922	HP:0001892	Abnormal bleeding
ORPHA:648	RASA2	5922	HP:0000768	Pectus carinatum
ORPHA:648	RASA2	5922	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	RASA2	5922	HP:0000520	Proptosis
ORPHA:648	RASA2	5922	HP:0001743	Abnormality of the spleen
ORPHA:648	RASA2	5922	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	RASA2	5922	HP:0011800	Midface retrusion
ORPHA:648	RASA2	5922	HP:0000179	Thick lower lip vermilion
ORPHA:648	RASA2	5922	HP:0000391	Thickened helices
ORPHA:648	RASA2	5922	HP:0000486	Strabismus
ORPHA:648	RASA2	5922	HP:0002240	Hepatomegaly
ORPHA:648	RASA2	5922	HP:0002162	Low posterior hairline
ORPHA:648	RASA2	5922	HP:0000767	Pectus excavatum
ORPHA:648	RASA2	5922	HP:0000348	High forehead
ORPHA:648	RASA2	5922	HP:0002750	Delayed skeletal maturation
ORPHA:648	RASA2	5922	HP:0002650	Scoliosis
ORPHA:648	RASA2	5922	HP:0011362	Abnormal hair quantity
ORPHA:648	RASA2	5922	HP:0000316	Hypertelorism
ORPHA:648	RASA2	5922	HP:0000508	Ptosis
ORPHA:648	RASA2	5922	HP:0100625	Enlarged thorax
ORPHA:648	RASA2	5922	HP:0000494	Downslanted palpebral fissures
ORPHA:648	RASA2	5922	HP:0011675	Arrhythmia
ORPHA:648	RASA2	5922	HP:0006610	Wide intermamillary distance
ORPHA:648	RASA2	5922	HP:0000474	Thickened nuchal skin fold
ORPHA:648	RASA2	5922	HP:0001260	Dysarthria
ORPHA:648	RASA2	5922	HP:0001928	Abnormality of coagulation
ORPHA:648	RASA2	5922	HP:0004415	Pulmonary artery stenosis
ORPHA:648	RASA2	5922	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	RASA2	5922	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	RASA2	5922	HP:0000465	Webbed neck
ORPHA:648	RASA2	5922	HP:0011869	Abnormal platelet function
ORPHA:648	RASA2	5922	HP:0000347	Micrognathia
ORPHA:648	RASA2	5922	HP:0004322	Short stature
ORPHA:648	RASA2	5922	HP:0001324	Muscle weakness
ORPHA:648	RASA2	5922	HP:0000476	Cystic hygroma
ORPHA:648	RASA2	5922	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	RASA2	5922	HP:0000218	High palate
ORPHA:648	RASA2	5922	HP:0000028	Cryptorchidism
ORPHA:648	RASA2	5922	HP:0000325	Triangular face
ORPHA:648	RASA2	5922	HP:0002208	Coarse hair
ORPHA:648	KRAS	3845	HP:0005692	Joint hyperflexibility
ORPHA:648	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHA:648	KRAS	3845	HP:0008872	Feeding difficulties in infancy
ORPHA:648	KRAS	3845	HP:0001892	Abnormal bleeding
ORPHA:648	KRAS	3845	HP:0000768	Pectus carinatum
ORPHA:648	KRAS	3845	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	KRAS	3845	HP:0000520	Proptosis
ORPHA:648	KRAS	3845	HP:0001743	Abnormality of the spleen
ORPHA:648	KRAS	3845	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	KRAS	3845	HP:0011800	Midface retrusion
ORPHA:648	KRAS	3845	HP:0000179	Thick lower lip vermilion
ORPHA:648	KRAS	3845	HP:0000391	Thickened helices
ORPHA:648	KRAS	3845	HP:0000486	Strabismus
ORPHA:648	KRAS	3845	HP:0002240	Hepatomegaly
ORPHA:648	KRAS	3845	HP:0002162	Low posterior hairline
ORPHA:648	KRAS	3845	HP:0000767	Pectus excavatum
ORPHA:648	KRAS	3845	HP:0000348	High forehead
ORPHA:648	KRAS	3845	HP:0002750	Delayed skeletal maturation
ORPHA:648	KRAS	3845	HP:0002650	Scoliosis
ORPHA:648	KRAS	3845	HP:0011362	Abnormal hair quantity
ORPHA:648	KRAS	3845	HP:0000316	Hypertelorism
ORPHA:648	KRAS	3845	HP:0000508	Ptosis
ORPHA:648	KRAS	3845	HP:0100625	Enlarged thorax
ORPHA:648	KRAS	3845	HP:0000494	Downslanted palpebral fissures
ORPHA:648	KRAS	3845	HP:0011675	Arrhythmia
ORPHA:648	KRAS	3845	HP:0006610	Wide intermamillary distance
ORPHA:648	KRAS	3845	HP:0000474	Thickened nuchal skin fold
ORPHA:648	KRAS	3845	HP:0001260	Dysarthria
ORPHA:648	KRAS	3845	HP:0001928	Abnormality of coagulation
ORPHA:648	KRAS	3845	HP:0004415	Pulmonary artery stenosis
ORPHA:648	KRAS	3845	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	KRAS	3845	HP:0000465	Webbed neck
ORPHA:648	KRAS	3845	HP:0011869	Abnormal platelet function
ORPHA:648	KRAS	3845	HP:0000347	Micrognathia
ORPHA:648	KRAS	3845	HP:0004322	Short stature
ORPHA:648	KRAS	3845	HP:0001324	Muscle weakness
ORPHA:648	KRAS	3845	HP:0000476	Cystic hygroma
ORPHA:648	KRAS	3845	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	KRAS	3845	HP:0000218	High palate
ORPHA:648	KRAS	3845	HP:0000028	Cryptorchidism
ORPHA:648	KRAS	3845	HP:0000325	Triangular face
ORPHA:648	KRAS	3845	HP:0002208	Coarse hair
ORPHA:648	RAF1	5894	HP:0005692	Joint hyperflexibility
ORPHA:648	RAF1	5894	HP:0001252	Muscular hypotonia
ORPHA:648	RAF1	5894	HP:0008872	Feeding difficulties in infancy
ORPHA:648	RAF1	5894	HP:0001892	Abnormal bleeding
ORPHA:648	RAF1	5894	HP:0000768	Pectus carinatum
ORPHA:648	RAF1	5894	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	RAF1	5894	HP:0000520	Proptosis
ORPHA:648	RAF1	5894	HP:0001743	Abnormality of the spleen
ORPHA:648	RAF1	5894	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	RAF1	5894	HP:0011800	Midface retrusion
ORPHA:648	RAF1	5894	HP:0000179	Thick lower lip vermilion
ORPHA:648	RAF1	5894	HP:0000391	Thickened helices
ORPHA:648	RAF1	5894	HP:0000486	Strabismus
ORPHA:648	RAF1	5894	HP:0002240	Hepatomegaly
ORPHA:648	RAF1	5894	HP:0002162	Low posterior hairline
ORPHA:648	RAF1	5894	HP:0000767	Pectus excavatum
ORPHA:648	RAF1	5894	HP:0000348	High forehead
ORPHA:648	RAF1	5894	HP:0002750	Delayed skeletal maturation
ORPHA:648	RAF1	5894	HP:0002650	Scoliosis
ORPHA:648	RAF1	5894	HP:0011362	Abnormal hair quantity
ORPHA:648	RAF1	5894	HP:0000316	Hypertelorism
ORPHA:648	RAF1	5894	HP:0000508	Ptosis
ORPHA:648	RAF1	5894	HP:0100625	Enlarged thorax
ORPHA:648	RAF1	5894	HP:0000494	Downslanted palpebral fissures
ORPHA:648	RAF1	5894	HP:0011675	Arrhythmia
ORPHA:648	RAF1	5894	HP:0006610	Wide intermamillary distance
ORPHA:648	RAF1	5894	HP:0000474	Thickened nuchal skin fold
ORPHA:648	RAF1	5894	HP:0001260	Dysarthria
ORPHA:648	RAF1	5894	HP:0001928	Abnormality of coagulation
ORPHA:648	RAF1	5894	HP:0004415	Pulmonary artery stenosis
ORPHA:648	RAF1	5894	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	RAF1	5894	HP:0000465	Webbed neck
ORPHA:648	RAF1	5894	HP:0011869	Abnormal platelet function
ORPHA:648	RAF1	5894	HP:0000347	Micrognathia
ORPHA:648	RAF1	5894	HP:0004322	Short stature
ORPHA:648	RAF1	5894	HP:0001324	Muscle weakness
ORPHA:648	RAF1	5894	HP:0000476	Cystic hygroma
ORPHA:648	RAF1	5894	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	RAF1	5894	HP:0000218	High palate
ORPHA:648	RAF1	5894	HP:0000028	Cryptorchidism
ORPHA:648	RAF1	5894	HP:0000325	Triangular face
ORPHA:648	RAF1	5894	HP:0002208	Coarse hair
ORPHA:648	PTPN11	5781	HP:0005692	Joint hyperflexibility
ORPHA:648	PTPN11	5781	HP:0001252	Muscular hypotonia
ORPHA:648	PTPN11	5781	HP:0008872	Feeding difficulties in infancy
ORPHA:648	PTPN11	5781	HP:0001892	Abnormal bleeding
ORPHA:648	PTPN11	5781	HP:0000768	Pectus carinatum
ORPHA:648	PTPN11	5781	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	PTPN11	5781	HP:0000520	Proptosis
ORPHA:648	PTPN11	5781	HP:0001743	Abnormality of the spleen
ORPHA:648	PTPN11	5781	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	PTPN11	5781	HP:0011800	Midface retrusion
ORPHA:648	PTPN11	5781	HP:0000179	Thick lower lip vermilion
ORPHA:648	PTPN11	5781	HP:0000391	Thickened helices
ORPHA:648	PTPN11	5781	HP:0000486	Strabismus
ORPHA:648	PTPN11	5781	HP:0002240	Hepatomegaly
ORPHA:648	PTPN11	5781	HP:0002162	Low posterior hairline
ORPHA:648	PTPN11	5781	HP:0000767	Pectus excavatum
ORPHA:648	PTPN11	5781	HP:0000348	High forehead
ORPHA:648	PTPN11	5781	HP:0002750	Delayed skeletal maturation
ORPHA:648	PTPN11	5781	HP:0002650	Scoliosis
ORPHA:648	PTPN11	5781	HP:0011362	Abnormal hair quantity
ORPHA:648	PTPN11	5781	HP:0000316	Hypertelorism
ORPHA:648	PTPN11	5781	HP:0000508	Ptosis
ORPHA:648	PTPN11	5781	HP:0100625	Enlarged thorax
ORPHA:648	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
ORPHA:648	PTPN11	5781	HP:0011675	Arrhythmia
ORPHA:648	PTPN11	5781	HP:0006610	Wide intermamillary distance
ORPHA:648	PTPN11	5781	HP:0000474	Thickened nuchal skin fold
ORPHA:648	PTPN11	5781	HP:0001260	Dysarthria
ORPHA:648	PTPN11	5781	HP:0001928	Abnormality of coagulation
ORPHA:648	PTPN11	5781	HP:0004415	Pulmonary artery stenosis
ORPHA:648	PTPN11	5781	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	PTPN11	5781	HP:0000465	Webbed neck
ORPHA:648	PTPN11	5781	HP:0011869	Abnormal platelet function
ORPHA:648	PTPN11	5781	HP:0000347	Micrognathia
ORPHA:648	PTPN11	5781	HP:0004322	Short stature
ORPHA:648	PTPN11	5781	HP:0001324	Muscle weakness
ORPHA:648	PTPN11	5781	HP:0000476	Cystic hygroma
ORPHA:648	PTPN11	5781	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	PTPN11	5781	HP:0000218	High palate
ORPHA:648	PTPN11	5781	HP:0000028	Cryptorchidism
ORPHA:648	PTPN11	5781	HP:0000325	Triangular face
ORPHA:648	PTPN11	5781	HP:0002208	Coarse hair
ORPHA:648	LZTR1	8216	HP:0005692	Joint hyperflexibility
ORPHA:648	LZTR1	8216	HP:0001252	Muscular hypotonia
ORPHA:648	LZTR1	8216	HP:0008872	Feeding difficulties in infancy
ORPHA:648	LZTR1	8216	HP:0001892	Abnormal bleeding
ORPHA:648	LZTR1	8216	HP:0000768	Pectus carinatum
ORPHA:648	LZTR1	8216	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	LZTR1	8216	HP:0000520	Proptosis
ORPHA:648	LZTR1	8216	HP:0001743	Abnormality of the spleen
ORPHA:648	LZTR1	8216	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	LZTR1	8216	HP:0011800	Midface retrusion
ORPHA:648	LZTR1	8216	HP:0000179	Thick lower lip vermilion
ORPHA:648	LZTR1	8216	HP:0000391	Thickened helices
ORPHA:648	LZTR1	8216	HP:0000486	Strabismus
ORPHA:648	LZTR1	8216	HP:0002240	Hepatomegaly
ORPHA:648	LZTR1	8216	HP:0002162	Low posterior hairline
ORPHA:648	LZTR1	8216	HP:0000767	Pectus excavatum
ORPHA:648	LZTR1	8216	HP:0000348	High forehead
ORPHA:648	LZTR1	8216	HP:0002750	Delayed skeletal maturation
ORPHA:648	LZTR1	8216	HP:0002650	Scoliosis
ORPHA:648	LZTR1	8216	HP:0011362	Abnormal hair quantity
ORPHA:648	LZTR1	8216	HP:0000316	Hypertelorism
ORPHA:648	LZTR1	8216	HP:0000508	Ptosis
ORPHA:648	LZTR1	8216	HP:0100625	Enlarged thorax
ORPHA:648	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
ORPHA:648	LZTR1	8216	HP:0011675	Arrhythmia
ORPHA:648	LZTR1	8216	HP:0006610	Wide intermamillary distance
ORPHA:648	LZTR1	8216	HP:0000474	Thickened nuchal skin fold
ORPHA:648	LZTR1	8216	HP:0001260	Dysarthria
ORPHA:648	LZTR1	8216	HP:0001928	Abnormality of coagulation
ORPHA:648	LZTR1	8216	HP:0004415	Pulmonary artery stenosis
ORPHA:648	LZTR1	8216	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	LZTR1	8216	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	LZTR1	8216	HP:0000465	Webbed neck
ORPHA:648	LZTR1	8216	HP:0011869	Abnormal platelet function
ORPHA:648	LZTR1	8216	HP:0000347	Micrognathia
ORPHA:648	LZTR1	8216	HP:0004322	Short stature
ORPHA:648	LZTR1	8216	HP:0001324	Muscle weakness
ORPHA:648	LZTR1	8216	HP:0000476	Cystic hygroma
ORPHA:648	LZTR1	8216	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	LZTR1	8216	HP:0000218	High palate
ORPHA:648	LZTR1	8216	HP:0000028	Cryptorchidism
ORPHA:648	LZTR1	8216	HP:0000325	Triangular face
ORPHA:648	LZTR1	8216	HP:0002208	Coarse hair
ORPHA:648	A2ML1	144568	HP:0005692	Joint hyperflexibility
ORPHA:648	A2ML1	144568	HP:0001252	Muscular hypotonia
ORPHA:648	A2ML1	144568	HP:0008872	Feeding difficulties in infancy
ORPHA:648	A2ML1	144568	HP:0001892	Abnormal bleeding
ORPHA:648	A2ML1	144568	HP:0000768	Pectus carinatum
ORPHA:648	A2ML1	144568	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	A2ML1	144568	HP:0000520	Proptosis
ORPHA:648	A2ML1	144568	HP:0001743	Abnormality of the spleen
ORPHA:648	A2ML1	144568	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	A2ML1	144568	HP:0011800	Midface retrusion
ORPHA:648	A2ML1	144568	HP:0000179	Thick lower lip vermilion
ORPHA:648	A2ML1	144568	HP:0000391	Thickened helices
ORPHA:648	A2ML1	144568	HP:0000486	Strabismus
ORPHA:648	A2ML1	144568	HP:0002240	Hepatomegaly
ORPHA:648	A2ML1	144568	HP:0002162	Low posterior hairline
ORPHA:648	A2ML1	144568	HP:0000767	Pectus excavatum
ORPHA:648	A2ML1	144568	HP:0000348	High forehead
ORPHA:648	A2ML1	144568	HP:0002750	Delayed skeletal maturation
ORPHA:648	A2ML1	144568	HP:0002650	Scoliosis
ORPHA:648	A2ML1	144568	HP:0011362	Abnormal hair quantity
ORPHA:648	A2ML1	144568	HP:0000316	Hypertelorism
ORPHA:648	A2ML1	144568	HP:0000508	Ptosis
ORPHA:648	A2ML1	144568	HP:0100625	Enlarged thorax
ORPHA:648	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
ORPHA:648	A2ML1	144568	HP:0011675	Arrhythmia
ORPHA:648	A2ML1	144568	HP:0006610	Wide intermamillary distance
ORPHA:648	A2ML1	144568	HP:0000474	Thickened nuchal skin fold
ORPHA:648	A2ML1	144568	HP:0001260	Dysarthria
ORPHA:648	A2ML1	144568	HP:0001928	Abnormality of coagulation
ORPHA:648	A2ML1	144568	HP:0004415	Pulmonary artery stenosis
ORPHA:648	A2ML1	144568	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	A2ML1	144568	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	A2ML1	144568	HP:0000465	Webbed neck
ORPHA:648	A2ML1	144568	HP:0011869	Abnormal platelet function
ORPHA:648	A2ML1	144568	HP:0000347	Micrognathia
ORPHA:648	A2ML1	144568	HP:0004322	Short stature
ORPHA:648	A2ML1	144568	HP:0001324	Muscle weakness
ORPHA:648	A2ML1	144568	HP:0000476	Cystic hygroma
ORPHA:648	A2ML1	144568	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	A2ML1	144568	HP:0000218	High palate
ORPHA:648	A2ML1	144568	HP:0000028	Cryptorchidism
ORPHA:648	A2ML1	144568	HP:0000325	Triangular face
ORPHA:648	A2ML1	144568	HP:0002208	Coarse hair
ORPHA:648	NRAS	4893	HP:0005692	Joint hyperflexibility
ORPHA:648	NRAS	4893	HP:0001252	Muscular hypotonia
ORPHA:648	NRAS	4893	HP:0008872	Feeding difficulties in infancy
ORPHA:648	NRAS	4893	HP:0001892	Abnormal bleeding
ORPHA:648	NRAS	4893	HP:0000768	Pectus carinatum
ORPHA:648	NRAS	4893	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	NRAS	4893	HP:0000520	Proptosis
ORPHA:648	NRAS	4893	HP:0001743	Abnormality of the spleen
ORPHA:648	NRAS	4893	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	NRAS	4893	HP:0011800	Midface retrusion
ORPHA:648	NRAS	4893	HP:0000179	Thick lower lip vermilion
ORPHA:648	NRAS	4893	HP:0000391	Thickened helices
ORPHA:648	NRAS	4893	HP:0000486	Strabismus
ORPHA:648	NRAS	4893	HP:0002240	Hepatomegaly
ORPHA:648	NRAS	4893	HP:0002162	Low posterior hairline
ORPHA:648	NRAS	4893	HP:0000767	Pectus excavatum
ORPHA:648	NRAS	4893	HP:0000348	High forehead
ORPHA:648	NRAS	4893	HP:0002750	Delayed skeletal maturation
ORPHA:648	NRAS	4893	HP:0002650	Scoliosis
ORPHA:648	NRAS	4893	HP:0011362	Abnormal hair quantity
ORPHA:648	NRAS	4893	HP:0000316	Hypertelorism
ORPHA:648	NRAS	4893	HP:0000508	Ptosis
ORPHA:648	NRAS	4893	HP:0100625	Enlarged thorax
ORPHA:648	NRAS	4893	HP:0000494	Downslanted palpebral fissures
ORPHA:648	NRAS	4893	HP:0011675	Arrhythmia
ORPHA:648	NRAS	4893	HP:0006610	Wide intermamillary distance
ORPHA:648	NRAS	4893	HP:0000474	Thickened nuchal skin fold
ORPHA:648	NRAS	4893	HP:0001260	Dysarthria
ORPHA:648	NRAS	4893	HP:0001928	Abnormality of coagulation
ORPHA:648	NRAS	4893	HP:0004415	Pulmonary artery stenosis
ORPHA:648	NRAS	4893	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	NRAS	4893	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	NRAS	4893	HP:0000465	Webbed neck
ORPHA:648	NRAS	4893	HP:0011869	Abnormal platelet function
ORPHA:648	NRAS	4893	HP:0000347	Micrognathia
ORPHA:648	NRAS	4893	HP:0004322	Short stature
ORPHA:648	NRAS	4893	HP:0001324	Muscle weakness
ORPHA:648	NRAS	4893	HP:0000476	Cystic hygroma
ORPHA:648	NRAS	4893	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	NRAS	4893	HP:0000218	High palate
ORPHA:648	NRAS	4893	HP:0000028	Cryptorchidism
ORPHA:648	NRAS	4893	HP:0000325	Triangular face
ORPHA:648	NRAS	4893	HP:0002208	Coarse hair
ORPHA:648	RRAS	6237	HP:0005692	Joint hyperflexibility
ORPHA:648	RRAS	6237	HP:0001252	Muscular hypotonia
ORPHA:648	RRAS	6237	HP:0008872	Feeding difficulties in infancy
ORPHA:648	RRAS	6237	HP:0001892	Abnormal bleeding
ORPHA:648	RRAS	6237	HP:0000768	Pectus carinatum
ORPHA:648	RRAS	6237	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	RRAS	6237	HP:0000520	Proptosis
ORPHA:648	RRAS	6237	HP:0001743	Abnormality of the spleen
ORPHA:648	RRAS	6237	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	RRAS	6237	HP:0011800	Midface retrusion
ORPHA:648	RRAS	6237	HP:0000179	Thick lower lip vermilion
ORPHA:648	RRAS	6237	HP:0000391	Thickened helices
ORPHA:648	RRAS	6237	HP:0000486	Strabismus
ORPHA:648	RRAS	6237	HP:0002240	Hepatomegaly
ORPHA:648	RRAS	6237	HP:0002162	Low posterior hairline
ORPHA:648	RRAS	6237	HP:0000767	Pectus excavatum
ORPHA:648	RRAS	6237	HP:0000348	High forehead
ORPHA:648	RRAS	6237	HP:0002750	Delayed skeletal maturation
ORPHA:648	RRAS	6237	HP:0002650	Scoliosis
ORPHA:648	RRAS	6237	HP:0011362	Abnormal hair quantity
ORPHA:648	RRAS	6237	HP:0000316	Hypertelorism
ORPHA:648	RRAS	6237	HP:0000508	Ptosis
ORPHA:648	RRAS	6237	HP:0100625	Enlarged thorax
ORPHA:648	RRAS	6237	HP:0000494	Downslanted palpebral fissures
ORPHA:648	RRAS	6237	HP:0011675	Arrhythmia
ORPHA:648	RRAS	6237	HP:0006610	Wide intermamillary distance
ORPHA:648	RRAS	6237	HP:0000474	Thickened nuchal skin fold
ORPHA:648	RRAS	6237	HP:0001260	Dysarthria
ORPHA:648	RRAS	6237	HP:0001928	Abnormality of coagulation
ORPHA:648	RRAS	6237	HP:0004415	Pulmonary artery stenosis
ORPHA:648	RRAS	6237	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	RRAS	6237	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	RRAS	6237	HP:0000465	Webbed neck
ORPHA:648	RRAS	6237	HP:0011869	Abnormal platelet function
ORPHA:648	RRAS	6237	HP:0000347	Micrognathia
ORPHA:648	RRAS	6237	HP:0004322	Short stature
ORPHA:648	RRAS	6237	HP:0001324	Muscle weakness
ORPHA:648	RRAS	6237	HP:0000476	Cystic hygroma
ORPHA:648	RRAS	6237	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	RRAS	6237	HP:0000218	High palate
ORPHA:648	RRAS	6237	HP:0000028	Cryptorchidism
ORPHA:648	RRAS	6237	HP:0000325	Triangular face
ORPHA:648	RRAS	6237	HP:0002208	Coarse hair
ORPHA:648	SOS1	6654	HP:0005692	Joint hyperflexibility
ORPHA:648	SOS1	6654	HP:0001252	Muscular hypotonia
ORPHA:648	SOS1	6654	HP:0008872	Feeding difficulties in infancy
ORPHA:648	SOS1	6654	HP:0001892	Abnormal bleeding
ORPHA:648	SOS1	6654	HP:0000768	Pectus carinatum
ORPHA:648	SOS1	6654	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	SOS1	6654	HP:0000520	Proptosis
ORPHA:648	SOS1	6654	HP:0001743	Abnormality of the spleen
ORPHA:648	SOS1	6654	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	SOS1	6654	HP:0011800	Midface retrusion
ORPHA:648	SOS1	6654	HP:0000179	Thick lower lip vermilion
ORPHA:648	SOS1	6654	HP:0000391	Thickened helices
ORPHA:648	SOS1	6654	HP:0000486	Strabismus
ORPHA:648	SOS1	6654	HP:0002240	Hepatomegaly
ORPHA:648	SOS1	6654	HP:0002162	Low posterior hairline
ORPHA:648	SOS1	6654	HP:0000767	Pectus excavatum
ORPHA:648	SOS1	6654	HP:0000348	High forehead
ORPHA:648	SOS1	6654	HP:0002750	Delayed skeletal maturation
ORPHA:648	SOS1	6654	HP:0002650	Scoliosis
ORPHA:648	SOS1	6654	HP:0011362	Abnormal hair quantity
ORPHA:648	SOS1	6654	HP:0000316	Hypertelorism
ORPHA:648	SOS1	6654	HP:0000508	Ptosis
ORPHA:648	SOS1	6654	HP:0100625	Enlarged thorax
ORPHA:648	SOS1	6654	HP:0000494	Downslanted palpebral fissures
ORPHA:648	SOS1	6654	HP:0011675	Arrhythmia
ORPHA:648	SOS1	6654	HP:0006610	Wide intermamillary distance
ORPHA:648	SOS1	6654	HP:0000474	Thickened nuchal skin fold
ORPHA:648	SOS1	6654	HP:0001260	Dysarthria
ORPHA:648	SOS1	6654	HP:0001928	Abnormality of coagulation
ORPHA:648	SOS1	6654	HP:0004415	Pulmonary artery stenosis
ORPHA:648	SOS1	6654	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	SOS1	6654	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	SOS1	6654	HP:0000465	Webbed neck
ORPHA:648	SOS1	6654	HP:0011869	Abnormal platelet function
ORPHA:648	SOS1	6654	HP:0000347	Micrognathia
ORPHA:648	SOS1	6654	HP:0004322	Short stature
ORPHA:648	SOS1	6654	HP:0001324	Muscle weakness
ORPHA:648	SOS1	6654	HP:0000476	Cystic hygroma
ORPHA:648	SOS1	6654	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	SOS1	6654	HP:0000218	High palate
ORPHA:648	SOS1	6654	HP:0000028	Cryptorchidism
ORPHA:648	SOS1	6654	HP:0000325	Triangular face
ORPHA:648	SOS1	6654	HP:0002208	Coarse hair
ORPHA:648	SOS2	6655	HP:0005692	Joint hyperflexibility
ORPHA:648	SOS2	6655	HP:0001252	Muscular hypotonia
ORPHA:648	SOS2	6655	HP:0008872	Feeding difficulties in infancy
ORPHA:648	SOS2	6655	HP:0001892	Abnormal bleeding
ORPHA:648	SOS2	6655	HP:0000768	Pectus carinatum
ORPHA:648	SOS2	6655	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	SOS2	6655	HP:0000520	Proptosis
ORPHA:648	SOS2	6655	HP:0001743	Abnormality of the spleen
ORPHA:648	SOS2	6655	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	SOS2	6655	HP:0011800	Midface retrusion
ORPHA:648	SOS2	6655	HP:0000179	Thick lower lip vermilion
ORPHA:648	SOS2	6655	HP:0000391	Thickened helices
ORPHA:648	SOS2	6655	HP:0000486	Strabismus
ORPHA:648	SOS2	6655	HP:0002240	Hepatomegaly
ORPHA:648	SOS2	6655	HP:0002162	Low posterior hairline
ORPHA:648	SOS2	6655	HP:0000767	Pectus excavatum
ORPHA:648	SOS2	6655	HP:0000348	High forehead
ORPHA:648	SOS2	6655	HP:0002750	Delayed skeletal maturation
ORPHA:648	SOS2	6655	HP:0002650	Scoliosis
ORPHA:648	SOS2	6655	HP:0011362	Abnormal hair quantity
ORPHA:648	SOS2	6655	HP:0000316	Hypertelorism
ORPHA:648	SOS2	6655	HP:0000508	Ptosis
ORPHA:648	SOS2	6655	HP:0100625	Enlarged thorax
ORPHA:648	SOS2	6655	HP:0000494	Downslanted palpebral fissures
ORPHA:648	SOS2	6655	HP:0011675	Arrhythmia
ORPHA:648	SOS2	6655	HP:0006610	Wide intermamillary distance
ORPHA:648	SOS2	6655	HP:0000474	Thickened nuchal skin fold
ORPHA:648	SOS2	6655	HP:0001260	Dysarthria
ORPHA:648	SOS2	6655	HP:0001928	Abnormality of coagulation
ORPHA:648	SOS2	6655	HP:0004415	Pulmonary artery stenosis
ORPHA:648	SOS2	6655	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	SOS2	6655	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	SOS2	6655	HP:0000465	Webbed neck
ORPHA:648	SOS2	6655	HP:0011869	Abnormal platelet function
ORPHA:648	SOS2	6655	HP:0000347	Micrognathia
ORPHA:648	SOS2	6655	HP:0004322	Short stature
ORPHA:648	SOS2	6655	HP:0001324	Muscle weakness
ORPHA:648	SOS2	6655	HP:0000476	Cystic hygroma
ORPHA:648	SOS2	6655	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	SOS2	6655	HP:0000218	High palate
ORPHA:648	SOS2	6655	HP:0000028	Cryptorchidism
ORPHA:648	SOS2	6655	HP:0000325	Triangular face
ORPHA:648	SOS2	6655	HP:0002208	Coarse hair
OMIM:245590	STAT5B	6777	HP:0000824	Growth hormone deficiency
OMIM:245590	STAT5B	6777	HP:0003510	Severe short stature
OMIM:245590	STAT5B	6777	HP:0002098	Respiratory distress
OMIM:270300	CDSN	1041	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270300	CDSN	1041	HP:0002099	Asthma
OMIM:270300	CDSN	1041	HP:0001806	Onycholysis
OMIM:270300	CDSN	1041	HP:0002299	Brittle hair
OMIM:270300	CDSN	1041	HP:0000007	Autosomal recessive inheritance
OMIM:270300	CDSN	1041	HP:0003577	Congenital onset
OMIM:270300	CDSN	1041	HP:0004322	Short stature
OMIM:270300	CDSN	1041	HP:0000989	Pruritus
OMIM:270300	CDSN	1041	HP:0003212	Increased IgE level
OMIM:270300	CDSN	1041	HP:0010783	Erythema
OMIM:270300	CDSN	1041	HP:0040189	Scaling skin
OMIM:616271	CLPB	81570	HP:0001875	Neutropenia
OMIM:616271	CLPB	81570	HP:0007256	Abnormal pyramidal signs
OMIM:616271	CLPB	81570	HP:0001319	Neonatal hypotonia
OMIM:616271	CLPB	81570	HP:0003676	Progressive
OMIM:616271	CLPB	81570	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:616271	CLPB	81570	HP:0003812	Phenotypic variability
OMIM:616271	CLPB	81570	HP:0011968	Feeding difficulties
OMIM:616271	CLPB	81570	HP:0000518	Cataract
OMIM:616271	CLPB	81570	HP:0001263	Global developmental delay
OMIM:616271	CLPB	81570	HP:0002059	Cerebral atrophy
OMIM:616271	CLPB	81570	HP:0001272	Cerebellar atrophy
OMIM:616271	CLPB	81570	HP:0001252	Muscular hypotonia
OMIM:616271	CLPB	81570	HP:0003577	Congenital onset
OMIM:616271	CLPB	81570	HP:0001257	Spasticity
OMIM:616271	CLPB	81570	HP:0000007	Autosomal recessive inheritance
OMIM:616271	CLPB	81570	HP:0000252	Microcephaly
OMIM:616271	CLPB	81570	HP:0001510	Growth delay
OMIM:616271	CLPB	81570	HP:0001249	Intellectual disability
OMIM:256520	PHGDH	26227	HP:0000470	Short neck
OMIM:256520	PHGDH	26227	HP:0011224	Ablepharon
OMIM:256520	PHGDH	26227	HP:0000561	Absent eyelashes
OMIM:256520	PHGDH	26227	HP:0001770	Toe syndactyly
OMIM:256520	PHGDH	26227	HP:0000179	Thick lower lip vermilion
OMIM:256520	PHGDH	26227	HP:0006101	Finger syndactyly
OMIM:256520	PHGDH	26227	HP:0006266	Small placenta
OMIM:256520	PHGDH	26227	HP:0009466	Radial deviation of finger
OMIM:256520	PHGDH	26227	HP:0000340	Sloping forehead
OMIM:256520	PHGDH	26227	HP:0001511	Intrauterine growth retardation
OMIM:256520	PHGDH	26227	HP:0000518	Cataract
OMIM:256520	PHGDH	26227	HP:0001655	Patent foramen ovale
OMIM:256520	PHGDH	26227	HP:0001629	Ventricular septal defect
OMIM:256520	PHGDH	26227	HP:0002324	Hydranencephaly
OMIM:256520	PHGDH	26227	HP:0001305	Dandy-Walker malformation
OMIM:256520	PHGDH	26227	HP:0001848	Calcaneovalgus deformity
OMIM:256520	PHGDH	26227	HP:0002983	Micromelia
OMIM:256520	PHGDH	26227	HP:0000007	Autosomal recessive inheritance
OMIM:256520	PHGDH	26227	HP:0000400	Macrotia
OMIM:256520	PHGDH	26227	HP:0000136	Bifid uterus
OMIM:256520	PHGDH	26227	HP:0007430	Generalized edema
OMIM:256520	PHGDH	26227	HP:0000347	Micrognathia
OMIM:256520	PHGDH	26227	HP:0000104	Renal agenesis
OMIM:256520	PHGDH	26227	HP:0001838	Rocker bottom foot
OMIM:256520	PHGDH	26227	HP:0001274	Agenesis of corpus callosum
OMIM:256520	PHGDH	26227	HP:0002190	Choroid plexus cyst
OMIM:256520	PHGDH	26227	HP:0002414	Spina bifida
OMIM:256520	PHGDH	26227	HP:0001339	Lissencephaly
OMIM:256520	PHGDH	26227	HP:0000175	Cleft palate
OMIM:256520	PHGDH	26227	HP:0000316	Hypertelorism
OMIM:256520	PHGDH	26227	HP:0000568	Microphthalmia
OMIM:256520	PHGDH	26227	HP:0001669	Transposition of the great arteries
OMIM:256520	PHGDH	26227	HP:0002089	Pulmonary hypoplasia
OMIM:256520	PHGDH	26227	HP:0001561	Polyhydramnios
OMIM:256520	PHGDH	26227	HP:0003826	Stillbirth
OMIM:256520	PHGDH	26227	HP:0000252	Microcephaly
OMIM:256520	PHGDH	26227	HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin
OMIM:256520	PHGDH	26227	HP:0001196	Short umbilical cord
OMIM:256520	PHGDH	26227	HP:0001643	Patent ductus arteriosus
OMIM:256520	PHGDH	26227	HP:0012385	Camptodactyly
OMIM:256520	PHGDH	26227	HP:0001059	Pterygium
OMIM:256520	PHGDH	26227	HP:0001321	Cerebellar hypoplasia
OMIM:256520	PHGDH	26227	HP:0009473	Joint contracture of the hand
OMIM:256520	PHGDH	26227	HP:0000028	Cryptorchidism
OMIM:256520	PHGDH	26227	HP:0030084	Clinodactyly
OMIM:256520	PHGDH	26227	HP:0000204	Cleft upper lip
OMIM:256520	PHGDH	26227	HP:0000520	Proptosis
OMIM:256520	PHGDH	26227	HP:0001558	Decreased fetal movement
OMIM:153400	FOXC2	2303	HP:0001636	Tetralogy of Fallot
OMIM:153400	FOXC2	2303	HP:0000509	Conjunctivitis
OMIM:153400	FOXC2	2303	HP:0003011	Abnormality of the musculature
OMIM:153400	FOXC2	2303	HP:0002619	Varicose veins
OMIM:153400	FOXC2	2303	HP:0000613	Photophobia
OMIM:153400	FOXC2	2303	HP:0003550	Predominantly lower limb lymphedema
OMIM:153400	FOXC2	2303	HP:0009743	Distichiasis
OMIM:153400	FOXC2	2303	HP:0012804	Corneal ulceration
OMIM:153400	FOXC2	2303	HP:0001629	Ventricular septal defect
OMIM:153400	FOXC2	2303	HP:0000006	Autosomal dominant inheritance
OMIM:153400	FOXC2	2303	HP:0000508	Ptosis
OMIM:153400	FOXC2	2303	HP:0000495	Recurrent corneal erosions
OMIM:153400	FOXC2	2303	HP:0001004	Lymphedema
OMIM:153400	FOXC2	2303	HP:0001643	Patent ductus arteriosus
OMIM:153400	FOXC2	2303	HP:0011675	Arrhythmia
OMIM:211980	ERBB2	2064	HP:0000007	Autosomal recessive inheritance
OMIM:211980	ERBB2	2064	HP:0006519	Alveolar cell carcinoma
OMIM:211980	BRAF	673	HP:0000007	Autosomal recessive inheritance
OMIM:211980	BRAF	673	HP:0006519	Alveolar cell carcinoma
OMIM:211980	RASSF1	11186	HP:0000007	Autosomal recessive inheritance
OMIM:211980	RASSF1	11186	HP:0006519	Alveolar cell carcinoma
OMIM:211980	EGFR	1956	HP:0000007	Autosomal recessive inheritance
OMIM:211980	EGFR	1956	HP:0006519	Alveolar cell carcinoma
OMIM:211980	DLEC1	9940	HP:0000007	Autosomal recessive inheritance
OMIM:211980	DLEC1	9940	HP:0006519	Alveolar cell carcinoma
OMIM:211980	KRAS	3845	HP:0000007	Autosomal recessive inheritance
OMIM:211980	KRAS	3845	HP:0006519	Alveolar cell carcinoma
OMIM:211980	SLC22A18	5002	HP:0000007	Autosomal recessive inheritance
OMIM:211980	SLC22A18	5002	HP:0006519	Alveolar cell carcinoma
OMIM:211980	PIK3CA	5290	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PIK3CA	5290	HP:0006519	Alveolar cell carcinoma
OMIM:211980	IRF1	3659	HP:0000007	Autosomal recessive inheritance
OMIM:211980	IRF1	3659	HP:0006519	Alveolar cell carcinoma
OMIM:211980	MAP3K8	1326	HP:0000007	Autosomal recessive inheritance
OMIM:211980	MAP3K8	1326	HP:0006519	Alveolar cell carcinoma
OMIM:211980	PRKN	5071	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PRKN	5071	HP:0006519	Alveolar cell carcinoma
OMIM:211980	PPP2R1B	5519	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PPP2R1B	5519	HP:0006519	Alveolar cell carcinoma
ORPHA:2790	LRP5	4041	HP:0000772	Abnormality of the ribs
ORPHA:2790	LRP5	4041	HP:0100861	Vertebral body sclerosis
ORPHA:2790	LRP5	4041	HP:0005789	Generalized osteosclerosis
ORPHA:2790	LRP5	4041	HP:0100789	Torus palatinus
ORPHA:2790	LRP5	4041	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2790	LRP5	4041	HP:0003103	Abnormal cortical bone morphology
ORPHA:2790	LRP5	4041	HP:0100923	Clavicular sclerosis
ORPHA:2790	LRP5	4041	HP:0004493	Craniofacial hyperostosis
ORPHA:2790	LRP5	4041	HP:0005019	Diaphyseal thickening
ORPHA:79284	LMBRD1	55788	HP:0001252	Muscular hypotonia
ORPHA:79284	LMBRD1	55788	HP:0001250	Seizures
ORPHA:79284	LMBRD1	55788	HP:0001980	Megaloblastic bone marrow
ORPHA:79284	LMBRD1	55788	HP:0001251	Ataxia
ORPHA:79284	LMBRD1	55788	HP:0000988	Skin rash
ORPHA:79284	LMBRD1	55788	HP:0002376	Developmental regression
ORPHA:79284	LMBRD1	55788	HP:0001254	Lethargy
ORPHA:79284	LMBRD1	55788	HP:0000709	Psychosis
ORPHA:79284	LMBRD1	55788	HP:0008872	Feeding difficulties in infancy
ORPHA:79284	LMBRD1	55788	HP:0010280	Stomatitis
ORPHA:79284	LMBRD1	55788	HP:0001508	Failure to thrive
OMIM:617402	ATP6V1E1	529	HP:0001290	Generalized hypotonia
OMIM:617402	ATP6V1E1	529	HP:0000621	Entropion
OMIM:617402	ATP6V1E1	529	HP:0001188	Hand clenching
OMIM:617402	ATP6V1E1	529	HP:0000316	Hypertelorism
OMIM:617402	ATP6V1E1	529	HP:0001763	Pes planus
OMIM:617402	ATP6V1E1	529	HP:0001634	Mitral valve prolapse
OMIM:617402	ATP6V1E1	529	HP:0004325	Decreased body weight
OMIM:617402	ATP6V1E1	529	HP:0008689	Bilateral cryptorchidism
OMIM:617402	ATP6V1E1	529	HP:0010761	Broad columella
OMIM:617402	ATP6V1E1	529	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:617402	ATP6V1E1	529	HP:0000007	Autosomal recessive inheritance
OMIM:617402	ATP6V1E1	529	HP:0000678	Dental crowding
OMIM:617402	ATP6V1E1	529	HP:0001385	Hip dysplasia
OMIM:617402	ATP6V1E1	529	HP:0001631	Atrial septal defect
OMIM:617402	ATP6V1E1	529	HP:0001762	Talipes equinovarus
OMIM:617402	ATP6V1E1	529	HP:0001601	Laryngomalacia
OMIM:617402	ATP6V1E1	529	HP:0001659	Aortic regurgitation
OMIM:617402	ATP6V1E1	529	HP:0001519	Disproportionate tall stature
OMIM:617402	ATP6V1E1	529	HP:0004322	Short stature
OMIM:617402	ATP6V1E1	529	HP:0000218	High palate
OMIM:617402	ATP6V1E1	529	HP:0002751	Kyphoscoliosis
OMIM:617402	ATP6V1E1	529	HP:0000455	Broad nasal tip
OMIM:617402	ATP6V1E1	529	HP:0000369	Low-set ears
OMIM:617402	ATP6V1E1	529	HP:0009933	Narrow naris
OMIM:617402	ATP6V1E1	529	HP:0006380	Knee flexion contracture
OMIM:617402	ATP6V1E1	529	HP:0000639	Nystagmus
OMIM:617402	ATP6V1E1	529	HP:0001388	Joint laxity
OMIM:617402	ATP6V1E1	529	HP:0000343	Long philtrum
OMIM:617402	ATP6V1E1	529	HP:0005180	Tricuspid regurgitation
OMIM:115197	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115197	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613838	MYOZ2	51778	HP:0000006	Autosomal dominant inheritance
OMIM:613838	MYOZ2	51778	HP:0001712	Left ventricular hypertrophy
OMIM:613873	JPH2	57158	HP:0001712	Left ventricular hypertrophy
OMIM:613873	JPH2	57158	HP:0001962	Palpitations
OMIM:613873	JPH2	57158	HP:0000006	Autosomal dominant inheritance
OMIM:613873	JPH2	57158	HP:0001638	Cardiomyopathy
OMIM:613873	JPH2	57158	HP:0002094	Dyspnea
OMIM:616894	DVL3	1857	HP:0000006	Autosomal dominant inheritance
OMIM:616894	DVL3	1857	HP:0000582	Upslanted palpebral fissure
OMIM:616894	DVL3	1857	HP:0003027	Mesomelia
OMIM:616894	DVL3	1857	HP:0011800	Midface retrusion
OMIM:616894	DVL3	1857	HP:0004935	Pulmonary artery atresia
OMIM:616894	DVL3	1857	HP:0002714	Downturned corners of mouth
OMIM:616894	DVL3	1857	HP:0030084	Clinodactyly
OMIM:616894	DVL3	1857	HP:0000343	Long philtrum
OMIM:616894	DVL3	1857	HP:0000028	Cryptorchidism
OMIM:616894	DVL3	1857	HP:0001643	Patent ductus arteriosus
OMIM:616894	DVL3	1857	HP:0000463	Anteverted nares
OMIM:616894	DVL3	1857	HP:0000431	Wide nasal bridge
OMIM:616894	DVL3	1857	HP:0005280	Depressed nasal bridge
OMIM:616894	DVL3	1857	HP:0000520	Proptosis
OMIM:616894	DVL3	1857	HP:0001655	Patent foramen ovale
OMIM:616894	DVL3	1857	HP:0001156	Brachydactyly
OMIM:616894	DVL3	1857	HP:0001629	Ventricular septal defect
OMIM:616894	DVL3	1857	HP:0000175	Cleft palate
OMIM:616894	DVL3	1857	HP:0000347	Micrognathia
OMIM:616894	DVL3	1857	HP:0004322	Short stature
OMIM:616894	DVL3	1857	HP:0003196	Short nose
OMIM:616894	DVL3	1857	HP:0010954	Hypoplastic right heart
OMIM:616894	DVL3	1857	HP:0000212	Gingival overgrowth
OMIM:616894	DVL3	1857	HP:0005180	Tricuspid regurgitation
ORPHA:79431	TYR	7299	HP:0000613	Photophobia
ORPHA:79431	TYR	7299	HP:0000649	Abnormality of visual evoked potentials
ORPHA:79431	TYR	7299	HP:0000639	Nystagmus
ORPHA:79431	TYR	7299	HP:0000587	Abnormality of the optic nerve
ORPHA:79431	TYR	7299	HP:0007750	Hypoplasia of the fovea
ORPHA:79431	TYR	7299	HP:0001107	Ocular albinism
ORPHA:79431	TYR	7299	HP:0001480	Freckling
ORPHA:79431	TYR	7299	HP:0001022	Albinism
ORPHA:79431	TYR	7299	HP:0000505	Visual impairment
ORPHA:2500	COL3A1	1281	HP:0200055	Small hand
ORPHA:2500	COL3A1	1281	HP:0004322	Short stature
ORPHA:2500	COL3A1	1281	HP:0007392	Excessive wrinkled skin
ORPHA:2500	COL3A1	1281	HP:0100578	Lipoatrophy
ORPHA:2500	COL3A1	1281	HP:0000963	Thin skin
ORPHA:2500	COL3A1	1281	HP:0002213	Fine hair
ORPHA:2500	COL3A1	1281	HP:0001249	Intellectual disability
ORPHA:2500	COL3A1	1281	HP:0000444	Convex nasal ridge
ORPHA:2500	COL3A1	1281	HP:0007400	Irregular hyperpigmentation
ORPHA:2500	COL3A1	1281	HP:0005692	Joint hyperflexibility
ORPHA:2500	COL3A1	1281	HP:0002650	Scoliosis
ORPHA:2500	COL3A1	1281	HP:0100585	Telangiectasia of the skin
ORPHA:2500	COL3A1	1281	HP:0000347	Micrognathia
ORPHA:2500	COL3A1	1281	HP:0001773	Short foot
OMIM:604841	COL11A1	1301	HP:0000272	Malar flattening
OMIM:604841	COL11A1	1301	HP:0000347	Micrognathia
OMIM:604841	COL11A1	1301	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:604841	COL11A1	1301	HP:0000193	Bifid uvula
OMIM:604841	COL11A1	1301	HP:0003040	Arthropathy
OMIM:604841	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
OMIM:604841	COL11A1	1301	HP:0000175	Cleft palate
OMIM:604841	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:604841	COL11A1	1301	HP:0011800	Midface retrusion
OMIM:604841	COL11A1	1301	HP:0100807	Long fingers
OMIM:604841	COL11A1	1301	HP:0000501	Glaucoma
OMIM:604841	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:604841	COL11A1	1301	HP:0000201	Pierre-Robin sequence
OMIM:604841	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
OMIM:604841	COL11A1	1301	HP:0000518	Cataract
OMIM:604841	COL11A1	1301	HP:0000545	Myopia
OMIM:604841	COL11A1	1301	HP:0001166	Arachnodactyly
OMIM:604841	COL11A1	1301	HP:0001382	Joint hypermobility
OMIM:604841	COL11A1	1301	HP:0000006	Autosomal dominant inheritance
OMIM:604841	COL11A1	1301	HP:0000541	Retinal detachment
OMIM:253400	SMN1	6606	HP:0003676	Progressive
OMIM:253400	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253400	SMN1	6606	HP:0003394	Muscle cramps
OMIM:253400	SMN1	6606	HP:0002522	Areflexia of lower limbs
OMIM:253400	SMN1	6606	HP:0001265	Hyporeflexia
OMIM:253400	SMN1	6606	HP:0003457	EMG abnormality
OMIM:253400	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:253400	SMN1	6606	HP:0007289	Limb fasciculations
OMIM:253400	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253400	SMN1	6606	HP:0002378	Hand tremor
OMIM:253400	SMN1	6606	HP:0001324	Muscle weakness
OMIM:253400	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:615280	MAP2K2	5605	HP:0001003	Multiple lentigines
OMIM:615280	MAP2K2	5605	HP:0010438	Abnormal ventricular septum morphology
OMIM:615280	MAP2K2	5605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615280	MAP2K2	5605	HP:0002223	Absent eyebrow
OMIM:615280	MAP2K2	5605	HP:0002650	Scoliosis
OMIM:615280	MAP2K2	5605	HP:0001321	Cerebellar hypoplasia
OMIM:615280	MAP2K2	5605	HP:0000609	Optic nerve hypoplasia
OMIM:615280	MAP2K2	5605	HP:0030047	Abnormality of lateral ventricle
OMIM:615280	MAP2K2	5605	HP:0004322	Short stature
OMIM:615280	MAP2K2	5605	HP:0000341	Narrow forehead
OMIM:615280	MAP2K2	5605	HP:0000519	Congenital cataract
OMIM:615280	MAP2K2	5605	HP:0001263	Global developmental delay
OMIM:615280	MAP2K2	5605	HP:0000545	Myopia
OMIM:615280	MAP2K2	5605	HP:0001646	Abnormality of the aortic valve
OMIM:615280	MAP2K2	5605	HP:0001252	Muscular hypotonia
OMIM:615280	MAP2K2	5605	HP:0000974	Hyperextensible skin
OMIM:615280	MAP2K2	5605	HP:0000639	Nystagmus
OMIM:615280	MAP2K2	5605	HP:0000486	Strabismus
OMIM:615280	MAP2K2	5605	HP:0000766	Abnormality of the sternum
OMIM:615280	MAP2K2	5605	HP:0000348	High forehead
OMIM:615280	MAP2K2	5605	HP:0001642	Pulmonic stenosis
OMIM:615280	MAP2K2	5605	HP:0000975	Hyperhidrosis
OMIM:615280	MAP2K2	5605	HP:0000506	Telecanthus
OMIM:615280	MAP2K2	5605	HP:0002046	Heat intolerance
OMIM:609049	LAMB2	3913	HP:0007774	Hypoplasia of the ciliary body
OMIM:609049	LAMB2	3913	HP:0007676	Hypoplasia of the iris
OMIM:609049	LAMB2	3913	HP:0001284	Areflexia
OMIM:609049	LAMB2	3913	HP:0003075	Hypoproteinemia
OMIM:609049	LAMB2	3913	HP:0003774	Stage 5 chronic kidney disease
OMIM:609049	LAMB2	3913	HP:0000969	Edema
OMIM:609049	LAMB2	3913	HP:0000093	Proteinuria
OMIM:609049	LAMB2	3913	HP:0011502	Posterior lenticonus
OMIM:609049	LAMB2	3913	HP:0001290	Generalized hypotonia
OMIM:609049	LAMB2	3913	HP:0000007	Autosomal recessive inheritance
OMIM:609049	LAMB2	3913	HP:0003623	Neonatal onset
OMIM:609049	LAMB2	3913	HP:0000618	Blindness
OMIM:609049	LAMB2	3913	HP:0000100	Nephrotic syndrome
OMIM:609049	LAMB2	3913	HP:0001967	Diffuse mesangial sclerosis
OMIM:300967	NONO	4841	HP:0000718	Aggressive behavior
OMIM:300967	NONO	4841	HP:0001388	Joint laxity
OMIM:300967	NONO	4841	HP:0002007	Frontal bossing
OMIM:300967	NONO	4841	HP:0001290	Generalized hypotonia
OMIM:300967	NONO	4841	HP:0040194	Increased head circumference
OMIM:300967	NONO	4841	HP:0001667	Right ventricular hypertrophy
OMIM:300967	NONO	4841	HP:0002705	High, narrow palate
OMIM:300967	NONO	4841	HP:0000276	Long face
OMIM:300967	NONO	4841	HP:0002684	Thickened calvaria
OMIM:300967	NONO	4841	HP:0001655	Patent foramen ovale
OMIM:300967	NONO	4841	HP:0001611	Nasal speech
OMIM:300967	NONO	4841	HP:0001251	Ataxia
OMIM:300967	NONO	4841	HP:0002808	Kyphosis
OMIM:300967	NONO	4841	HP:0000582	Upslanted palpebral fissure
OMIM:300967	NONO	4841	HP:0011342	Mild global developmental delay
OMIM:300967	NONO	4841	HP:0001643	Patent ductus arteriosus
OMIM:300967	NONO	4841	HP:0001533	Slender build
OMIM:300967	NONO	4841	HP:0030223	Perseveration
OMIM:300967	NONO	4841	HP:0001249	Intellectual disability
OMIM:300967	NONO	4841	HP:0001250	Seizures
OMIM:300967	NONO	4841	HP:0001270	Motor delay
OMIM:300967	NONO	4841	HP:0001419	X-linked recessive inheritance
OMIM:300967	NONO	4841	HP:0030682	Left ventricular noncompaction
OMIM:300967	NONO	4841	HP:0001319	Neonatal hypotonia
OMIM:300967	NONO	4841	HP:0001629	Ventricular septal defect
OMIM:300967	NONO	4841	HP:0000160	Narrow mouth
OMIM:300967	NONO	4841	HP:0000678	Dental crowding
OMIM:300967	NONO	4841	HP:0001763	Pes planus
OMIM:300967	NONO	4841	HP:0000545	Myopia
OMIM:300967	NONO	4841	HP:0000272	Malar flattening
OMIM:300967	NONO	4841	HP:0000448	Prominent nose
OMIM:300967	NONO	4841	HP:0001337	Tremor
OMIM:300967	NONO	4841	HP:0001822	Hallux valgus
OMIM:300967	NONO	4841	HP:0000194	Open mouth
OMIM:300967	NONO	4841	HP:0002650	Scoliosis
OMIM:300967	NONO	4841	HP:0000486	Strabismus
OMIM:611390	MARS2	92935	HP:0001347	Hyperreflexia
OMIM:611390	MARS2	92935	HP:0012712	Mild hearing impairment
OMIM:611390	MARS2	92935	HP:0000666	Horizontal nystagmus
OMIM:611390	MARS2	92935	HP:0001272	Cerebellar atrophy
OMIM:611390	MARS2	92935	HP:0000365	Hearing impairment
OMIM:611390	MARS2	92935	HP:0002497	Spastic ataxia
OMIM:611390	MARS2	92935	HP:0002120	Cerebral cortical atrophy
OMIM:611390	MARS2	92935	HP:0001257	Spasticity
OMIM:611390	MARS2	92935	HP:0001332	Dystonia
OMIM:611390	MARS2	92935	HP:0001310	Dysmetria
OMIM:611390	MARS2	92935	HP:0002066	Gait ataxia
OMIM:611390	MARS2	92935	HP:0000007	Autosomal recessive inheritance
OMIM:611390	MARS2	92935	HP:0100543	Cognitive impairment
OMIM:300868	PIGA	5277	HP:0001520	Large for gestational age
OMIM:300868	PIGA	5277	HP:0001522	Death in infancy
OMIM:300868	PIGA	5277	HP:0001419	X-linked recessive inheritance
OMIM:300868	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:300868	PIGA	5277	HP:0000269	Prominent occiput
OMIM:300868	PIGA	5277	HP:0001371	Flexion contracture
OMIM:300868	PIGA	5277	HP:0000160	Narrow mouth
OMIM:300868	PIGA	5277	HP:0003517	Birth length greater than 97th percentile
OMIM:300868	PIGA	5277	HP:0002120	Cerebral cortical atrophy
OMIM:300868	PIGA	5277	HP:0000207	Triangular mouth
OMIM:300868	PIGA	5277	HP:0012448	Delayed myelination
OMIM:300868	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:300868	PIGA	5277	HP:0001548	Overgrowth
OMIM:300868	PIGA	5277	HP:0003828	Variable expressivity
OMIM:300868	PIGA	5277	HP:0001321	Cerebellar hypoplasia
OMIM:300868	PIGA	5277	HP:0002123	Generalized myoclonic seizures
OMIM:300868	PIGA	5277	HP:0000212	Gingival overgrowth
OMIM:300868	PIGA	5277	HP:0002529	Neuronal loss in central nervous system
OMIM:300868	PIGA	5277	HP:0000280	Coarse facial features
OMIM:300868	PIGA	5277	HP:0007361	Abnormality of the pons
OMIM:300868	PIGA	5277	HP:0000365	Hearing impairment
OMIM:300868	PIGA	5277	HP:0000582	Upslanted palpebral fissure
OMIM:300868	PIGA	5277	HP:0000316	Hypertelorism
OMIM:300868	PIGA	5277	HP:0000347	Micrognathia
OMIM:300868	PIGA	5277	HP:0000054	Micropenis
OMIM:300868	PIGA	5277	HP:0001341	Olfactory lobe agenesis
OMIM:300868	PIGA	5277	HP:0001331	Absent septum pellucidum
OMIM:300868	PIGA	5277	HP:0001792	Small nail
OMIM:300868	PIGA	5277	HP:0005484	Postnatal microcephaly
OMIM:300868	PIGA	5277	HP:0000687	Widely spaced teeth
OMIM:300868	PIGA	5277	HP:0000256	Macrocephaly
OMIM:300868	PIGA	5277	HP:0008936	Muscular hypotonia of the trunk
OMIM:300868	PIGA	5277	HP:0001631	Atrial septal defect
OMIM:300868	PIGA	5277	HP:0000218	High palate
OMIM:300868	PIGA	5277	HP:0002714	Downturned corners of mouth
OMIM:300868	PIGA	5277	HP:0000272	Malar flattening
OMIM:300868	PIGA	5277	HP:0005280	Depressed nasal bridge
OMIM:300868	PIGA	5277	HP:0001344	Absent speech
OMIM:300868	PIGA	5277	HP:0000691	Microdontia
OMIM:300868	PIGA	5277	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300868	PIGA	5277	HP:0000396	Overfolded helix
OMIM:300868	PIGA	5277	HP:0000463	Anteverted nares
OMIM:300868	PIGA	5277	HP:0000470	Short neck
OMIM:300868	PIGA	5277	HP:0100704	Cortical visual impairment
OMIM:300868	PIGA	5277	HP:0011398	Central hypotonia
OMIM:300868	PIGA	5277	HP:0001347	Hyperreflexia
OMIM:300868	PIGA	5277	HP:0000239	Large fontanelles
ORPHA:905	ATP7B	540	HP:0000716	Depressivity
ORPHA:905	ATP7B	540	HP:0001155	Abnormality of the hand
ORPHA:905	ATP7B	540	HP:0001249	Intellectual disability
ORPHA:905	ATP7B	540	HP:0000952	Jaundice
ORPHA:905	ATP7B	540	HP:0001744	Splenomegaly
ORPHA:905	ATP7B	540	HP:0001824	Weight loss
ORPHA:905	ATP7B	540	HP:0001873	Thrombocytopenia
ORPHA:905	ATP7B	540	HP:0000989	Pruritus
ORPHA:905	ATP7B	540	HP:0001394	Cirrhosis
ORPHA:905	ATP7B	540	HP:0000978	Bruising susceptibility
ORPHA:905	ATP7B	540	HP:0002355	Difficulty walking
ORPHA:905	ATP7B	540	HP:0002240	Hepatomegaly
ORPHA:905	ATP7B	540	HP:0001508	Failure to thrive
ORPHA:905	ATP7B	540	HP:0002653	Bone pain
ORPHA:905	ATP7B	540	HP:0001369	Arthritis
ORPHA:905	ATP7B	540	HP:0002910	Elevated hepatic transaminases
ORPHA:905	ATP7B	540	HP:0002829	Arthralgia
ORPHA:905	ATP7B	540	HP:0002312	Clumsiness
ORPHA:905	ATP7B	540	HP:0006554	Acute hepatic failure
ORPHA:905	ATP7B	540	HP:0002756	Pathologic fracture
ORPHA:905	ATP7B	540	HP:0030214	Hypersexuality
ORPHA:905	ATP7B	540	HP:0003418	Back pain
ORPHA:905	ATP7B	540	HP:0004324	Increased body weight
ORPHA:905	ATP7B	540	HP:0008994	Proximal muscle weakness in lower limbs
ORPHA:905	ATP7B	540	HP:0000140	Abnormality of the menstrual cycle
ORPHA:905	ATP7B	540	HP:0000718	Aggressive behavior
ORPHA:905	ATP7B	540	HP:0001386	Joint swelling
ORPHA:905	ATP7B	540	HP:0200032	Kayser-Fleischer ring
ORPHA:905	ATP7B	540	HP:0001903	Anemia
ORPHA:905	ATP7B	540	HP:0200119	Acute hepatitis
ORPHA:905	ATP7B	540	HP:0001260	Dysarthria
ORPHA:905	ATP7B	540	HP:0001397	Hepatic steatosis
OMIM:613426	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613426	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:614640	UVSSA	57654	HP:0003593	Infantile onset
OMIM:614640	UVSSA	57654	HP:0003224	Increased cellular sensitivity to UV light
OMIM:614640	UVSSA	57654	HP:0001009	Telangiectasia
OMIM:614640	UVSSA	57654	HP:0000007	Autosomal recessive inheritance
OMIM:614640	UVSSA	57654	HP:0000958	Dry skin
OMIM:614640	UVSSA	57654	HP:0000992	Cutaneous photosensitivity
OMIM:614640	UVSSA	57654	HP:0001480	Freckling
ORPHA:1878	TRIM32	22954	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:1878	TRIM32	22954	HP:0003457	EMG abnormality
ORPHA:1878	TRIM32	22954	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:1878	TRIM32	22954	HP:0008994	Proximal muscle weakness in lower limbs
ORPHA:1878	TRIM32	22954	HP:0002515	Waddling gait
ORPHA:1878	TRIM32	22954	HP:0000298	Mask-like facies
ORPHA:1878	TRIM32	22954	HP:0000098	Tall stature
ORPHA:1878	TRIM32	22954	HP:0003198	Myopathy
OMIM:226670	PLEC	5339	HP:0001903	Anemia
OMIM:226670	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:226670	PLEC	5339	HP:0002164	Nail dysplasia
OMIM:226670	PLEC	5339	HP:0012227	Urethral stricture
OMIM:226670	PLEC	5339	HP:0002643	Neonatal respiratory distress
OMIM:226670	PLEC	5339	HP:0001056	Milia
OMIM:226670	PLEC	5339	HP:0004552	Scarring alopecia of scalp
OMIM:226670	PLEC	5339	HP:0006297	Hypoplasia of dental enamel
OMIM:226670	PLEC	5339	HP:0000670	Carious teeth
OMIM:226670	PLEC	5339	HP:0008404	Nail dystrophy
OMIM:226670	PLEC	5339	HP:0009025	Increased connective tissue
OMIM:226670	PLEC	5339	HP:0011859	Punctate keratitis
OMIM:226670	PLEC	5339	HP:0000491	Keratitis
OMIM:226670	PLEC	5339	HP:0003560	Muscular dystrophy
OMIM:226670	PLEC	5339	HP:0008066	Abnormal blistering of the skin
OMIM:226670	PLEC	5339	HP:0004322	Short stature
OMIM:226670	PLEC	5339	HP:0000972	Palmoplantar hyperkeratosis
ORPHA:86814	CNTN2	6900	HP:0002353	EEG abnormality
ORPHA:86814	CNTN2	6900	HP:0007359	Focal seizures
ORPHA:86814	CNTN2	6900	HP:0001336	Myoclonus
ORPHA:86814	CNTN2	6900	HP:0002378	Hand tremor
ORPHA:86814	CNTN2	6900	HP:0002197	Generalized seizures
ORPHA:86814	ADRA2B	151	HP:0002353	EEG abnormality
ORPHA:86814	ADRA2B	151	HP:0007359	Focal seizures
ORPHA:86814	ADRA2B	151	HP:0001336	Myoclonus
ORPHA:86814	ADRA2B	151	HP:0002378	Hand tremor
ORPHA:86814	ADRA2B	151	HP:0002197	Generalized seizures
OMIM:277470	TSEN54	283989	HP:0003577	Congenital onset
OMIM:277470	TSEN54	283989	HP:0002033	Poor suck
OMIM:277470	TSEN54	283989	HP:0001250	Seizures
OMIM:277470	TSEN54	283989	HP:0002171	Gliosis
OMIM:277470	TSEN54	283989	HP:0007772	Impaired smooth pursuit
OMIM:277470	TSEN54	283989	HP:0011344	Severe global developmental delay
OMIM:277470	TSEN54	283989	HP:0012110	Hypoplasia of the pons
OMIM:277470	TSEN54	283989	HP:0002518	Abnormality of the periventricular white matter
OMIM:277470	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:277470	TSEN54	283989	HP:0002179	Opisthotonus
OMIM:277470	TSEN54	283989	HP:0007308	Extrapyramidal dyskinesia
OMIM:277470	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:277470	TSEN54	283989	HP:0000253	Progressive microcephaly
OMIM:277470	TSEN54	283989	HP:0000711	Restlessness
OMIM:607677	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607677	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:607677	MPZ	4359	HP:0003484	Upper limb muscle weakness
OMIM:607677	MPZ	4359	HP:0003378	Axonal degeneration/regeneration
OMIM:607677	MPZ	4359	HP:0001284	Areflexia
OMIM:607677	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:607677	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607677	MPZ	4359	HP:0001761	Pes cavus
OMIM:607677	MPZ	4359	HP:0003376	Steppage gait
OMIM:607677	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:607677	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604379	LIPH	200879	HP:0000007	Autosomal recessive inheritance
OMIM:604379	LIPH	200879	HP:0000535	Sparse and thin eyebrow
OMIM:604379	LIPH	200879	HP:0000653	Sparse eyelashes
OMIM:604379	LIPH	200879	HP:0001006	Hypotrichosis
OMIM:232300	GAA	2548	HP:0001945	Fever
OMIM:232300	GAA	2548	HP:0003701	Proximal muscle weakness
OMIM:232300	GAA	2548	HP:0003725	Firm muscles
OMIM:232300	GAA	2548	HP:0005165	Shortened PR interval
OMIM:232300	GAA	2548	HP:0002093	Respiratory insufficiency
OMIM:232300	GAA	2548	HP:0006597	Diaphragmatic paralysis
OMIM:232300	GAA	2548	HP:0000007	Autosomal recessive inheritance
OMIM:232300	GAA	2548	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:232300	GAA	2548	HP:0001640	Cardiomegaly
OMIM:232300	GAA	2548	HP:0001284	Areflexia
OMIM:232300	GAA	2548	HP:0011400	Abnormal CNS myelination
OMIM:232300	GAA	2548	HP:0000365	Hearing impairment
OMIM:232300	GAA	2548	HP:0002240	Hepatomegaly
OMIM:232300	GAA	2548	HP:0001290	Generalized hypotonia
OMIM:232300	GAA	2548	HP:0002205	Recurrent respiratory infections
OMIM:232300	GAA	2548	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:232300	GAA	2548	HP:0003236	Elevated serum creatine phosphokinase
OMIM:232300	GAA	2548	HP:0002094	Dyspnea
OMIM:232300	GAA	2548	HP:0000158	Macroglossia
OMIM:232300	GAA	2548	HP:0001744	Splenomegaly
OMIM:232300	GAA	2548	HP:0004944	Dilatation of the cerebral artery
OMIM:617460	HK1	3098	HP:0000662	Nyctalopia
OMIM:617460	HK1	3098	HP:0000006	Autosomal dominant inheritance
OMIM:617460	HK1	3098	HP:0000543	Optic disc pallor
OMIM:617460	HK1	3098	HP:0001133	Constriction of peripheral visual field
OMIM:617460	HK1	3098	HP:0007401	Macular atrophy
OMIM:617460	HK1	3098	HP:0007663	Reduced visual acuity
OMIM:617460	HK1	3098	HP:0000613	Photophobia
ORPHA:2308	FLI1	2313	HP:0002007	Frontal bossing
ORPHA:2308	FLI1	2313	HP:0001873	Thrombocytopenia
ORPHA:2308	FLI1	2313	HP:0010059	Broad hallux phalanx
ORPHA:2308	FLI1	2313	HP:0000316	Hypertelorism
ORPHA:2308	FLI1	2313	HP:0000343	Long philtrum
ORPHA:2308	FLI1	2313	HP:0004322	Short stature
ORPHA:2308	FLI1	2313	HP:0001249	Intellectual disability
ORPHA:2308	FLI1	2313	HP:0001831	Short toe
ORPHA:2308	FLI1	2313	HP:0003196	Short nose
ORPHA:2308	FLI1	2313	HP:0000324	Facial asymmetry
ORPHA:2308	FLI1	2313	HP:0000319	Smooth philtrum
ORPHA:2308	FLI1	2313	HP:0008872	Feeding difficulties in infancy
ORPHA:2308	FLI1	2313	HP:0006101	Finger syndactyly
ORPHA:2308	FLI1	2313	HP:0001629	Ventricular septal defect
ORPHA:2308	FLI1	2313	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2308	FLI1	2313	HP:0002119	Ventriculomegaly
ORPHA:2308	FLI1	2313	HP:0000028	Cryptorchidism
ORPHA:2308	FLI1	2313	HP:0000348	High forehead
ORPHA:2308	FLI1	2313	HP:0000486	Strabismus
ORPHA:2308	FLI1	2313	HP:0001763	Pes planus
ORPHA:2308	FLI1	2313	HP:0001770	Toe syndactyly
ORPHA:2308	FLI1	2313	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:2308	FLI1	2313	HP:0000494	Downslanted palpebral fissures
ORPHA:2308	FLI1	2313	HP:0000921	Missing ribs
ORPHA:2308	FLI1	2313	HP:0002019	Constipation
ORPHA:2308	FLI1	2313	HP:0000482	Microcornea
ORPHA:2308	FLI1	2313	HP:0000470	Short neck
ORPHA:2308	FLI1	2313	HP:0001622	Premature birth
ORPHA:2308	FLI1	2313	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:2308	FLI1	2313	HP:0000256	Macrocephaly
ORPHA:2308	FLI1	2313	HP:0000286	Epicanthus
ORPHA:2308	FLI1	2313	HP:0000508	Ptosis
ORPHA:2308	FLI1	2313	HP:0000463	Anteverted nares
ORPHA:2308	FLI1	2313	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:2308	FLI1	2313	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2308	FLI1	2313	HP:0001863	Toe clinodactyly
ORPHA:2308	FLI1	2313	HP:0002205	Recurrent respiratory infections
ORPHA:2308	FLI1	2313	HP:0005528	Bone marrow hypocellularity
ORPHA:2308	FLI1	2313	HP:0001263	Global developmental delay
ORPHA:2308	FLI1	2313	HP:0001847	Long hallux
ORPHA:2308	FLI1	2313	HP:0010761	Broad columella
OMIM:253700	SGCG	6445	HP:0003202	Skeletal muscle atrophy
OMIM:253700	SGCG	6445	HP:0002090	Pneumonia
OMIM:253700	SGCG	6445	HP:0003678	Rapidly progressive
OMIM:253700	SGCG	6445	HP:0002091	Restrictive ventilatory defect
OMIM:253700	SGCG	6445	HP:0003560	Muscular dystrophy
OMIM:253700	SGCG	6445	HP:0000007	Autosomal recessive inheritance
OMIM:253700	SGCG	6445	HP:0003391	Gowers sign
OMIM:253700	SGCG	6445	HP:0001667	Right ventricular hypertrophy
OMIM:253700	SGCG	6445	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253700	SGCG	6445	HP:0003307	Hyperlordosis
OMIM:253700	SGCG	6445	HP:0003713	Muscle fiber necrosis
OMIM:253700	SGCG	6445	HP:0001371	Flexion contracture
OMIM:253700	SGCG	6445	HP:0002650	Scoliosis
OMIM:253700	SGCG	6445	HP:0003707	Calf muscle pseudohypertrophy
OMIM:253700	SGCG	6445	HP:0005133	Right ventricular dilatation
ORPHA:1159	WISP3	8838	HP:0002650	Scoliosis
ORPHA:1159	WISP3	8838	HP:0003071	Flattened epiphysis
ORPHA:1159	WISP3	8838	HP:0002815	Abnormality of the knee
ORPHA:1159	WISP3	8838	HP:0004576	Sclerotic vertebral endplates
ORPHA:1159	WISP3	8838	HP:0002912	Methylmalonic acidemia
ORPHA:1159	WISP3	8838	HP:0001288	Gait disturbance
ORPHA:1159	WISP3	8838	HP:0004322	Short stature
ORPHA:1159	WISP3	8838	HP:0002808	Kyphosis
ORPHA:1159	WISP3	8838	HP:0002758	Osteoarthritis
ORPHA:1159	WISP3	8838	HP:0001387	Joint stiffness
ORPHA:1159	WISP3	8838	HP:0006247	Enlarged interphalangeal joints
OMIM:119600	RUNX2	860	HP:0008848	Moderately short stature
OMIM:119600	RUNX2	860	HP:0011800	Midface retrusion
OMIM:119600	RUNX2	860	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:119600	RUNX2	860	HP:0002007	Frontal bossing
OMIM:119600	RUNX2	860	HP:0002659	Increased susceptibility to fractures
OMIM:119600	RUNX2	860	HP:0004474	Persistent open anterior fontanelle
OMIM:119600	RUNX2	860	HP:0002866	Hypoplastic iliac wing
OMIM:119600	RUNX2	860	HP:0000316	Hypertelorism
OMIM:119600	RUNX2	860	HP:0000894	Short clavicles
OMIM:119600	RUNX2	860	HP:0005280	Depressed nasal bridge
OMIM:119600	RUNX2	860	HP:0011001	Increased bone mineral density
OMIM:119600	RUNX2	860	HP:0000175	Cleft palate
OMIM:119600	RUNX2	860	HP:0006660	Aplastic clavicles
OMIM:119600	RUNX2	860	HP:0000006	Autosomal dominant inheritance
OMIM:119600	RUNX2	860	HP:0000272	Malar flattening
OMIM:119600	RUNX2	860	HP:0002643	Neonatal respiratory distress
OMIM:119600	RUNX2	860	HP:0003304	Spondylolysis
OMIM:119600	RUNX2	860	HP:0003396	Syringomyelia
OMIM:119600	RUNX2	860	HP:0000891	Cervical ribs
OMIM:119600	RUNX2	860	HP:0002812	Coxa vara
OMIM:119600	RUNX2	860	HP:0005259	Abnormal facility in opposing the shoulders
OMIM:119600	RUNX2	860	HP:0011069	Increased number of teeth
OMIM:119600	RUNX2	860	HP:0000242	Parietal bossing
OMIM:119600	RUNX2	860	HP:0000774	Narrow chest
OMIM:119600	RUNX2	860	HP:0000680	Delayed eruption of primary teeth
OMIM:119600	RUNX2	860	HP:0002705	High, narrow palate
OMIM:119600	RUNX2	860	HP:0003183	Wide pubic symphysis
OMIM:119600	RUNX2	860	HP:0006040	Long second metacarpal
OMIM:119600	RUNX2	860	HP:0002689	Absent paranasal sinuses
OMIM:119600	RUNX2	860	HP:0000773	Short ribs
OMIM:119600	RUNX2	860	HP:0008788	Delayed pubic bone ossification
OMIM:119600	RUNX2	860	HP:0006297	Hypoplasia of dental enamel
OMIM:119600	RUNX2	860	HP:0000189	Narrow palate
OMIM:119600	RUNX2	860	HP:0002684	Thickened calvaria
OMIM:119600	RUNX2	860	HP:0002645	Wormian bones
OMIM:119600	RUNX2	860	HP:0002738	Hypoplastic frontal sinuses
OMIM:119600	RUNX2	860	HP:0000218	High palate
OMIM:119600	RUNX2	860	HP:0002808	Kyphosis
OMIM:119600	RUNX2	860	HP:0002700	Large foramen magnum
OMIM:119600	RUNX2	860	HP:0009577	Short middle phalanx of the 2nd finger
OMIM:119600	RUNX2	860	HP:0000696	Delayed eruption of permanent teeth
OMIM:119600	RUNX2	860	HP:0003302	Spondylolisthesis
OMIM:119600	RUNX2	860	HP:0000347	Micrognathia
OMIM:119600	RUNX2	860	HP:0002688	Absent frontal sinuses
OMIM:119600	RUNX2	860	HP:0000882	Hypoplastic scapulae
OMIM:119600	RUNX2	860	HP:0100864	Short femoral neck
OMIM:119600	RUNX2	860	HP:0000365	Hearing impairment
OMIM:119600	RUNX2	860	HP:0002650	Scoliosis
OMIM:119600	RUNX2	860	HP:0001156	Brachydactyly
OMIM:119600	RUNX2	860	HP:0004220	Short middle phalanx of the 5th finger
OMIM:608540	ALG1	56052	HP:0001522	Death in infancy
OMIM:608540	ALG1	56052	HP:0002059	Cerebral atrophy
OMIM:608540	ALG1	56052	HP:0000007	Autosomal recessive inheritance
OMIM:608540	ALG1	56052	HP:0000239	Large fontanelles
OMIM:608540	ALG1	56052	HP:0001638	Cardiomyopathy
OMIM:608540	ALG1	56052	HP:0001744	Splenomegaly
OMIM:608540	ALG1	56052	HP:0002240	Hepatomegaly
OMIM:608540	ALG1	56052	HP:0003642	Type I transferrin isoform profile
OMIM:608540	ALG1	56052	HP:0001290	Generalized hypotonia
OMIM:608540	ALG1	56052	HP:0000252	Microcephaly
OMIM:608540	ALG1	56052	HP:0001263	Global developmental delay
OMIM:608540	ALG1	56052	HP:0000347	Micrognathia
OMIM:608540	ALG1	56052	HP:0001511	Intrauterine growth retardation
OMIM:608540	ALG1	56052	HP:0000233	Thin vermilion border
OMIM:608540	ALG1	56052	HP:0001284	Areflexia
OMIM:608540	ALG1	56052	HP:0000316	Hypertelorism
OMIM:608540	ALG1	56052	HP:0001250	Seizures
OMIM:608540	ALG1	56052	HP:0001560	Abnormality of the amniotic fluid
OMIM:608540	ALG1	56052	HP:0000135	Hypogonadism
OMIM:608540	ALG1	56052	HP:0001371	Flexion contracture
OMIM:608540	ALG1	56052	HP:0001790	Nonimmune hydrops fetalis
OMIM:137440	PRNP	5621	HP:0002186	Apraxia
OMIM:137440	PRNP	5621	HP:0002067	Bradykinesia
OMIM:137440	PRNP	5621	HP:0000751	Personality changes
OMIM:137440	PRNP	5621	HP:0001272	Cerebellar atrophy
OMIM:137440	PRNP	5621	HP:0001284	Areflexia
OMIM:137440	PRNP	5621	HP:0001347	Hyperreflexia
OMIM:137440	PRNP	5621	HP:0007340	Lower limb muscle weakness
OMIM:137440	PRNP	5621	HP:0002354	Memory impairment
OMIM:137440	PRNP	5621	HP:0000709	Psychosis
OMIM:137440	PRNP	5621	HP:0001260	Dysarthria
OMIM:137440	PRNP	5621	HP:0002066	Gait ataxia
OMIM:137440	PRNP	5621	HP:0001257	Spasticity
OMIM:137440	PRNP	5621	HP:0003812	Phenotypic variability
OMIM:137440	PRNP	5621	HP:0007772	Impaired smooth pursuit
OMIM:137440	PRNP	5621	HP:0002185	Neurofibrillary tangles
OMIM:137440	PRNP	5621	HP:0000716	Depressivity
OMIM:137440	PRNP	5621	HP:0002063	Rigidity
OMIM:137440	PRNP	5621	HP:0001336	Myoclonus
OMIM:137440	PRNP	5621	HP:0003678	Rapidly progressive
OMIM:137440	PRNP	5621	HP:0001337	Tremor
OMIM:137440	PRNP	5621	HP:0030223	Perseveration
OMIM:137440	PRNP	5621	HP:0001300	Parkinsonism
OMIM:137440	PRNP	5621	HP:0000718	Aggressive behavior
OMIM:137440	PRNP	5621	HP:0002078	Truncal ataxia
OMIM:137440	PRNP	5621	HP:0003581	Adult onset
OMIM:137440	PRNP	5621	HP:0000726	Dementia
OMIM:137440	PRNP	5621	HP:0001824	Weight loss
OMIM:137440	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:137440	PRNP	5621	HP:0000712	Emotional lability
OMIM:137440	PRNP	5621	HP:0002070	Limb ataxia
ORPHA:1416	ANKH	56172	HP:0001369	Arthritis
ORPHA:1416	ANKH	56172	HP:0002758	Osteoarthritis
ORPHA:1416	ANKH	56172	HP:0100593	Calcification of cartilage
ORPHA:1416	ANKH	56172	HP:0005108	Abnormality of the intervertebral disk
ORPHA:1416	ANKH	56172	HP:0001386	Joint swelling
ORPHA:1416	ANKH	56172	HP:0002829	Arthralgia
ORPHA:293948	DPYD	1806	HP:0000545	Myopia
ORPHA:293948	DPYD	1806	HP:0000750	Delayed speech and language development
ORPHA:293948	DPYD	1806	HP:0000455	Broad nasal tip
ORPHA:293948	DPYD	1806	HP:0001513	Obesity
ORPHA:293948	DPYD	1806	HP:0000490	Deeply set eye
ORPHA:293948	DPYD	1806	HP:0000256	Macrocephaly
ORPHA:293948	DPYD	1806	HP:0000504	Abnormality of vision
ORPHA:293948	DPYD	1806	HP:0400004	Long ear
ORPHA:293948	DPYD	1806	HP:0000582	Upslanted palpebral fissure
ORPHA:293948	DPYD	1806	HP:0000483	Astigmatism
ORPHA:293948	DPYD	1806	HP:0000729	Autistic behavior
ORPHA:293948	DPYD	1806	HP:0001263	Global developmental delay
ORPHA:293948	DPYD	1806	HP:0001256	Intellectual disability, mild
ORPHA:293948	DPYD	1806	HP:0100738	Abnormal eating behavior
ORPHA:293948	DPYD	1806	HP:0000293	Full cheeks
ORPHA:293948	DPYD	1806	HP:0003196	Short nose
ORPHA:293948	DPYD	1806	HP:0100962	Shyness
OMIM:226200	TMPRSS15	5651	HP:0001508	Failure to thrive
OMIM:226200	TMPRSS15	5651	HP:0002014	Diarrhea
OMIM:226200	TMPRSS15	5651	HP:0000007	Autosomal recessive inheritance
OMIM:226200	TMPRSS15	5651	HP:0003075	Hypoproteinemia
OMIM:226200	TMPRSS15	5651	HP:0007609	Hypoproteinemic edema
OMIM:177000	FECH	2235	HP:0010783	Erythema
OMIM:177000	FECH	2235	HP:0001399	Hepatic failure
OMIM:177000	FECH	2235	HP:0000969	Edema
OMIM:177000	FECH	2235	HP:0011463	Childhood onset
OMIM:177000	FECH	2235	HP:0000006	Autosomal dominant inheritance
OMIM:177000	FECH	2235	HP:0001878	Hemolytic anemia
OMIM:177000	FECH	2235	HP:0002155	Hypertriglyceridemia
OMIM:177000	FECH	2235	HP:0000989	Pruritus
OMIM:177000	FECH	2235	HP:0000007	Autosomal recessive inheritance
OMIM:177000	FECH	2235	HP:0000964	Eczema
OMIM:177000	FECH	2235	HP:0001081	Cholelithiasis
OMIM:616849	BMPR1B	658	HP:0009650	Short distal phalanx of the thumb
OMIM:616849	BMPR1B	658	HP:0009566	Short distal phalanx of the 2nd finger
OMIM:616849	BMPR1B	658	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:616849	BMPR1B	658	HP:0010241	Short proximal phalanx of finger
OMIM:616849	BMPR1B	658	HP:0004220	Short middle phalanx of the 5th finger
OMIM:616849	BMPR1B	658	HP:0004209	Clinodactyly of the 5th finger
OMIM:616849	BMPR1B	658	HP:0009638	Short proximal phalanx of thumb
OMIM:616849	BMPR1B	658	HP:0002275	Poor motor coordination
OMIM:616849	BMPR1B	658	HP:0000006	Autosomal dominant inheritance
OMIM:616849	BMPR1B	658	HP:0000750	Delayed speech and language development
OMIM:613812	CYP7B1	9420	HP:0003155	Elevated alkaline phosphatase
OMIM:613812	CYP7B1	9420	HP:0001406	Intrahepatic cholestasis
OMIM:613812	CYP7B1	9420	HP:0001399	Hepatic failure
OMIM:613812	CYP7B1	9420	HP:0002014	Diarrhea
OMIM:613812	CYP7B1	9420	HP:0001508	Failure to thrive
OMIM:613812	CYP7B1	9420	HP:0002570	Steatorrhea
OMIM:613812	CYP7B1	9420	HP:0000007	Autosomal recessive inheritance
OMIM:613812	CYP7B1	9420	HP:0002240	Hepatomegaly
OMIM:613812	CYP7B1	9420	HP:0011985	Acholic stools
OMIM:613812	CYP7B1	9420	HP:0003256	Abnormality of the coagulation cascade
OMIM:613812	CYP7B1	9420	HP:0000952	Jaundice
OMIM:613812	CYP7B1	9420	HP:0001744	Splenomegaly
OMIM:613812	CYP7B1	9420	HP:0003623	Neonatal onset
OMIM:613812	CYP7B1	9420	HP:0012115	Hepatitis
OMIM:613812	CYP7B1	9420	HP:0002910	Elevated hepatic transaminases
OMIM:613812	CYP7B1	9420	HP:0001394	Cirrhosis
OMIM:616002	PAX2	5076	HP:0000097	Focal segmental glomerulosclerosis
OMIM:616002	PAX2	5076	HP:0003829	Incomplete penetrance
OMIM:616002	PAX2	5076	HP:0000093	Proteinuria
OMIM:616002	PAX2	5076	HP:0000006	Autosomal dominant inheritance
OMIM:616002	PAX2	5076	HP:0000100	Nephrotic syndrome
OMIM:616002	PAX2	5076	HP:0003828	Variable expressivity
OMIM:614091	WDR35	57539	HP:0006487	Bowing of the long bones
OMIM:614091	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:614091	WDR35	57539	HP:0001789	Hydrops fetalis
OMIM:614091	WDR35	57539	HP:0000107	Renal cyst
OMIM:614091	WDR35	57539	HP:0000774	Narrow chest
OMIM:614091	WDR35	57539	HP:0010442	Polydactyly
OMIM:614091	WDR35	57539	HP:0000047	Hypospadias
OMIM:614091	WDR35	57539	HP:0001159	Syndactyly
OMIM:614091	WDR35	57539	HP:0003026	Short long bone
OMIM:614091	WDR35	57539	HP:0000882	Hypoplastic scapulae
OMIM:614091	WDR35	57539	HP:0002089	Pulmonary hypoplasia
OMIM:614091	WDR35	57539	HP:0006644	Thoracic dysplasia
OMIM:614091	WDR35	57539	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	WDR35	57539	HP:0000773	Short ribs
OMIM:614091	WDR35	57539	HP:0000476	Cystic hygroma
OMIM:614091	WDR35	57539	HP:0100259	Postaxial polydactyly
OMIM:616172	STX1B	112755	HP:0002121	Absence seizures
OMIM:616172	STX1B	112755	HP:0010819	Atonic seizures
OMIM:616172	STX1B	112755	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:616172	STX1B	112755	HP:0002373	Febrile seizures
OMIM:616172	STX1B	112755	HP:0003828	Variable expressivity
OMIM:612247	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:612247	FGFR3	2261	HP:0011800	Midface retrusion
OMIM:612247	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:612247	FGFR3	2261	HP:0000995	Melanocytic nevus
OMIM:612247	FGFR3	2261	HP:0001363	Craniosynostosis
OMIM:612247	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:612247	FGFR3	2261	HP:0000453	Choanal atresia
OMIM:612247	FGFR3	2261	HP:0000520	Proptosis
OMIM:612247	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:613886	NTRK2	4915	HP:0000324	Facial asymmetry
OMIM:613886	NTRK2	4915	HP:0000006	Autosomal dominant inheritance
OMIM:613886	NTRK2	4915	HP:0002591	Polyphagia
OMIM:613886	NTRK2	4915	HP:0001513	Obesity
OMIM:613886	NTRK2	4915	HP:0000733	Stereotypy
OMIM:613886	NTRK2	4915	HP:0011344	Severe global developmental delay
OMIM:231070	GORAB	92344	HP:0000704	Periodontitis
OMIM:231070	GORAB	92344	HP:0002659	Increased susceptibility to fractures
OMIM:231070	GORAB	92344	HP:0000490	Deeply set eye
OMIM:231070	GORAB	92344	HP:0000007	Autosomal recessive inheritance
OMIM:231070	GORAB	92344	HP:0012385	Camptodactyly
OMIM:231070	GORAB	92344	HP:0002980	Femoral bowing
OMIM:231070	GORAB	92344	HP:0000938	Osteopenia
OMIM:231070	GORAB	92344	HP:0003301	Irregular vertebral endplates
OMIM:231070	GORAB	92344	HP:0003510	Severe short stature
OMIM:231070	GORAB	92344	HP:0000303	Mandibular prognathia
OMIM:231070	GORAB	92344	HP:0000939	Osteoporosis
OMIM:231070	GORAB	92344	HP:0002982	Tibial bowing
OMIM:231070	GORAB	92344	HP:0002757	Recurrent fractures
OMIM:231070	GORAB	92344	HP:0002953	Vertebral compression fractures
OMIM:231070	GORAB	92344	HP:0004568	Beaking of vertebral bodies
OMIM:231070	GORAB	92344	HP:0002645	Wormian bones
OMIM:231070	GORAB	92344	HP:0000750	Delayed speech and language development
OMIM:231070	GORAB	92344	HP:0000327	Hypoplasia of the maxilla
OMIM:231070	GORAB	92344	HP:0004586	Biconcave vertebral bodies
OMIM:231070	GORAB	92344	HP:0000926	Platyspondyly
OMIM:231070	GORAB	92344	HP:0000272	Malar flattening
OMIM:231070	GORAB	92344	HP:0000252	Microcephaly
OMIM:231070	GORAB	92344	HP:0000973	Cutis laxa
OMIM:231070	GORAB	92344	HP:0001187	Hyperextensibility of the finger joints
OMIM:231070	GORAB	92344	HP:0001249	Intellectual disability
OMIM:613078	RAD50	10111	HP:0000252	Microcephaly
OMIM:613078	RAD50	10111	HP:0000540	Hypermetropia
OMIM:613078	RAD50	10111	HP:0001251	Ataxia
OMIM:613078	RAD50	10111	HP:0001257	Spasticity
OMIM:613078	RAD50	10111	HP:0000007	Autosomal recessive inheritance
OMIM:613078	RAD50	10111	HP:0010997	Chromosomal breakage induced by ionizing radiation
OMIM:613078	RAD50	10111	HP:0001249	Intellectual disability
OMIM:613078	RAD50	10111	HP:0004322	Short stature
OMIM:601543	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:608840	LARGE1	9215	HP:0000158	Macroglossia
OMIM:608840	LARGE1	9215	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	LARGE1	9215	HP:0001263	Global developmental delay
OMIM:608840	LARGE1	9215	HP:0002395	Lower limb hyperreflexia
OMIM:608840	LARGE1	9215	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	LARGE1	9215	HP:0003560	Muscular dystrophy
OMIM:608840	LARGE1	9215	HP:0003701	Proximal muscle weakness
OMIM:608840	LARGE1	9215	HP:0000666	Horizontal nystagmus
OMIM:608840	LARGE1	9215	HP:0001290	Generalized hypotonia
OMIM:608840	LARGE1	9215	HP:0003741	Congenital muscular dystrophy
OMIM:608840	LARGE1	9215	HP:0003487	Babinski sign
OMIM:608840	LARGE1	9215	HP:0001321	Cerebellar hypoplasia
OMIM:608840	LARGE1	9215	HP:0002987	Elbow flexion contracture
OMIM:608840	LARGE1	9215	HP:0004322	Short stature
OMIM:608840	LARGE1	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	LARGE1	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	LARGE1	9215	HP:0000007	Autosomal recessive inheritance
OMIM:608840	LARGE1	9215	HP:0001302	Pachygyria
OMIM:608840	LARGE1	9215	HP:0002187	Intellectual disability, profound
OMIM:608840	LARGE1	9215	HP:0002269	Abnormality of neuronal migration
OMIM:608840	LARGE1	9215	HP:0010628	Facial palsy
OMIM:608840	LARGE1	9215	HP:0003458	EMG: myopathic abnormalities
OMIM:608840	LARGE1	9215	HP:0001270	Motor delay
OMIM:608840	LARGE1	9215	HP:0009473	Joint contracture of the hand
OMIM:608840	LARGE1	9215	HP:0003593	Infantile onset
OMIM:608840	LARGE1	9215	HP:0001771	Achilles tendon contracture
OMIM:177170	COMP	1311	HP:0003049	Ulnar deviation of the wrist
OMIM:177170	COMP	1311	HP:0002829	Arthralgia
OMIM:177170	COMP	1311	HP:0010236	Small epiphyses of the phalanges of the hand
OMIM:177170	COMP	1311	HP:0002816	Genu recurvatum
OMIM:177170	COMP	1311	HP:0001498	Carpal bone hypoplasia
OMIM:177170	COMP	1311	HP:0002970	Genu varum
OMIM:177170	COMP	1311	HP:0001388	Joint laxity
OMIM:177170	COMP	1311	HP:0004042	Ulnar metaphyseal irregularity
OMIM:177170	COMP	1311	HP:0010582	Irregular epiphyses
OMIM:177170	COMP	1311	HP:0004568	Beaking of vertebral bodies
OMIM:177170	COMP	1311	HP:0011405	Childhood onset short-limb short stature
OMIM:177170	COMP	1311	HP:0000006	Autosomal dominant inheritance
OMIM:177170	COMP	1311	HP:0000763	Sensory neuropathy
OMIM:177170	COMP	1311	HP:0002758	Osteoarthritis
OMIM:177170	COMP	1311	HP:0002341	Cervical cord compression
OMIM:177170	COMP	1311	HP:0001377	Limited elbow extension
OMIM:177170	COMP	1311	HP:0002808	Kyphosis
OMIM:177170	COMP	1311	HP:0002515	Waddling gait
OMIM:177170	COMP	1311	HP:0009487	Ulnar deviation of the hand
OMIM:177170	COMP	1311	HP:0002857	Genu valgum
OMIM:177170	COMP	1311	HP:0002834	Flared femoral metaphysis
OMIM:177170	COMP	1311	HP:0001156	Brachydactyly
OMIM:177170	COMP	1311	HP:0000926	Platyspondyly
OMIM:177170	COMP	1311	HP:0008873	Disproportionate short-limb short stature
OMIM:177170	COMP	1311	HP:0002663	Delayed epiphyseal ossification
OMIM:177170	COMP	1311	HP:0004019	Radial metaphyseal irregularity
OMIM:177170	COMP	1311	HP:0003093	Limited hip extension
OMIM:177170	COMP	1311	HP:0002650	Scoliosis
OMIM:177170	COMP	1311	HP:0009882	Short distal phalanx of finger
OMIM:177170	COMP	1311	HP:0002938	Lumbar hyperlordosis
OMIM:177170	COMP	1311	HP:0003026	Short long bone
OMIM:177170	COMP	1311	HP:0005063	Fragmented, irregular epiphyses
OMIM:177170	COMP	1311	HP:0004236	Irregular carpal bones
OMIM:177170	COMP	1311	HP:0010049	Short metacarpal
OMIM:177170	COMP	1311	HP:0003414	Atlantoaxial dislocation
OMIM:177170	COMP	1311	HP:0012307	Spatulate ribs
OMIM:177170	COMP	1311	HP:0003311	Hypoplasia of the odontoid process
OMIM:177170	COMP	1311	HP:0100168	Fragmented epiphyses
OMIM:601869	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GIPC3	126326	HP:0011463	Childhood onset
OMIM:601869	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:102900	PKLR	5313	HP:0001901	Polycythemia
OMIM:102900	PKLR	5313	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration
OMIM:102900	PKLR	5313	HP:0000006	Autosomal dominant inheritance
ORPHA:280651	PRKAR1A	5573	HP:0001249	Intellectual disability
ORPHA:280651	PRKAR1A	5573	HP:0005453	Absent/hypoplastic paranasal sinuses
ORPHA:280651	PRKAR1A	5573	HP:0000028	Cryptorchidism
ORPHA:280651	PRKAR1A	5573	HP:0003502	Mild short stature
ORPHA:280651	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
ORPHA:280651	PRKAR1A	5573	HP:0000463	Anteverted nares
ORPHA:280651	PRKAR1A	5573	HP:0001156	Brachydactyly
ORPHA:280651	PRKAR1A	5573	HP:0002901	Hypocalcemia
ORPHA:280651	PRKAR1A	5573	HP:0000303	Mandibular prognathia
ORPHA:280651	PRKAR1A	5573	HP:0000311	Round face
ORPHA:280651	PRKAR1A	5573	HP:0000717	Autism
ORPHA:280651	PRKAR1A	5573	HP:0003528	Elevated calcitonin
ORPHA:280651	PRKAR1A	5573	HP:0008497	Congenital craniofacial dysostosis
ORPHA:280651	PRKAR1A	5573	HP:0000824	Growth hormone deficiency
ORPHA:280651	PRKAR1A	5573	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:280651	PRKAR1A	5573	HP:0010049	Short metacarpal
ORPHA:280651	PRKAR1A	5573	HP:0002516	Increased intracranial pressure
ORPHA:280651	PRKAR1A	5573	HP:0000819	Diabetes mellitus
ORPHA:280651	PRKAR1A	5573	HP:0009803	Short phalanx of finger
ORPHA:280651	PRKAR1A	5573	HP:0000852	Pseudohypoparathyroidism
ORPHA:280651	PRKAR1A	5573	HP:0000750	Delayed speech and language development
ORPHA:280651	PRKAR1A	5573	HP:0001511	Intrauterine growth retardation
ORPHA:280651	PRKAR1A	5573	HP:0000135	Hypogonadism
ORPHA:280651	PRKAR1A	5573	HP:0005305	Cerebral venous thrombosis
ORPHA:280651	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
ORPHA:280651	PRKAR1A	5573	HP:0002905	Hyperphosphatemia
ORPHA:280651	PRKAR1A	5573	HP:0000047	Hypospadias
ORPHA:280651	PRKAR1A	5573	HP:0010743	Short metatarsal
ORPHA:280651	PRKAR1A	5573	HP:0011800	Midface retrusion
ORPHA:280651	PRKAR1A	5573	HP:0000851	Congenital hypothyroidism
ORPHA:280651	PRKAR1A	5573	HP:0008450	Narrow vertebral interpedicular distance
ORPHA:280651	PRKAR1A	5573	HP:0004646	Hypoplasia of the nasal bone
ORPHA:280651	PRKAR1A	5573	HP:0000272	Malar flattening
ORPHA:280651	PRKAR1A	5573	HP:0002650	Scoliosis
ORPHA:280651	PRKAR1A	5573	HP:0001328	Specific learning disability
ORPHA:280651	PRKAR1A	5573	HP:0001513	Obesity
ORPHA:280651	PRKAR1A	5573	HP:0008479	Hypoplastic vertebral bodies
ORPHA:280651	PRKAR1A	5573	HP:0000752	Hyperactivity
ORPHA:280651	PRKAR1A	5573	HP:0001831	Short toe
ORPHA:280651	PRKAR1A	5573	HP:0010579	Cone-shaped epiphysis
ORPHA:280651	PRKAR1A	5573	HP:0001263	Global developmental delay
ORPHA:280651	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
ORPHA:280651	PDE4D	5144	HP:0001249	Intellectual disability
ORPHA:280651	PDE4D	5144	HP:0005453	Absent/hypoplastic paranasal sinuses
ORPHA:280651	PDE4D	5144	HP:0000028	Cryptorchidism
ORPHA:280651	PDE4D	5144	HP:0003502	Mild short stature
ORPHA:280651	PDE4D	5144	HP:0005280	Depressed nasal bridge
ORPHA:280651	PDE4D	5144	HP:0000463	Anteverted nares
ORPHA:280651	PDE4D	5144	HP:0001156	Brachydactyly
ORPHA:280651	PDE4D	5144	HP:0002901	Hypocalcemia
ORPHA:280651	PDE4D	5144	HP:0000303	Mandibular prognathia
ORPHA:280651	PDE4D	5144	HP:0000311	Round face
ORPHA:280651	PDE4D	5144	HP:0000717	Autism
ORPHA:280651	PDE4D	5144	HP:0003528	Elevated calcitonin
ORPHA:280651	PDE4D	5144	HP:0008497	Congenital craniofacial dysostosis
ORPHA:280651	PDE4D	5144	HP:0000824	Growth hormone deficiency
ORPHA:280651	PDE4D	5144	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:280651	PDE4D	5144	HP:0010049	Short metacarpal
ORPHA:280651	PDE4D	5144	HP:0002516	Increased intracranial pressure
ORPHA:280651	PDE4D	5144	HP:0000819	Diabetes mellitus
ORPHA:280651	PDE4D	5144	HP:0009803	Short phalanx of finger
ORPHA:280651	PDE4D	5144	HP:0000852	Pseudohypoparathyroidism
ORPHA:280651	PDE4D	5144	HP:0000750	Delayed speech and language development
ORPHA:280651	PDE4D	5144	HP:0001511	Intrauterine growth retardation
ORPHA:280651	PDE4D	5144	HP:0000135	Hypogonadism
ORPHA:280651	PDE4D	5144	HP:0005305	Cerebral venous thrombosis
ORPHA:280651	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
ORPHA:280651	PDE4D	5144	HP:0002905	Hyperphosphatemia
ORPHA:280651	PDE4D	5144	HP:0000047	Hypospadias
ORPHA:280651	PDE4D	5144	HP:0010743	Short metatarsal
ORPHA:280651	PDE4D	5144	HP:0011800	Midface retrusion
ORPHA:280651	PDE4D	5144	HP:0000851	Congenital hypothyroidism
ORPHA:280651	PDE4D	5144	HP:0008450	Narrow vertebral interpedicular distance
ORPHA:280651	PDE4D	5144	HP:0004646	Hypoplasia of the nasal bone
ORPHA:280651	PDE4D	5144	HP:0000272	Malar flattening
ORPHA:280651	PDE4D	5144	HP:0002650	Scoliosis
ORPHA:280651	PDE4D	5144	HP:0001328	Specific learning disability
ORPHA:280651	PDE4D	5144	HP:0001513	Obesity
ORPHA:280651	PDE4D	5144	HP:0008479	Hypoplastic vertebral bodies
ORPHA:280651	PDE4D	5144	HP:0000752	Hyperactivity
ORPHA:280651	PDE4D	5144	HP:0001831	Short toe
ORPHA:280651	PDE4D	5144	HP:0010579	Cone-shaped epiphysis
ORPHA:280651	PDE4D	5144	HP:0001263	Global developmental delay
ORPHA:280651	PDE4D	5144	HP:0003416	Spinal canal stenosis
OMIM:267010	NPHP3	27031	HP:0001305	Dandy-Walker malformation
OMIM:267010	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:267010	NPHP3	27031	HP:0001408	Bile duct proliferation
ORPHA:682	SCN4A	6329	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:682	SCN4A	6329	HP:0001288	Gait disturbance
ORPHA:682	SCN4A	6329	HP:0003457	EMG abnormality
ORPHA:682	SCN4A	6329	HP:0100021	Cerebral palsy
ORPHA:682	SCN4A	6329	HP:0002380	Fasciculations
ORPHA:682	SCN4A	6329	HP:0007215	Periodic hyperkalemic paralysis
ORPHA:682	SCN4A	6329	HP:0002153	Hyperkalemia
ORPHA:682	SCN4A	6329	HP:0003326	Myalgia
ORPHA:682	SCN4A	6329	HP:0003752	Episodic flaccid weakness
ORPHA:682	SCN4A	6329	HP:0001315	Reduced tendon reflexes
ORPHA:682	SCN4A	6329	HP:0002486	Myotonia
ORPHA:769	INSR	3643	HP:0007495	Prematurely aged appearance
ORPHA:769	INSR	3643	HP:0000040	Long penis
ORPHA:769	INSR	3643	HP:0000826	Precocious puberty
ORPHA:769	INSR	3643	HP:0002208	Coarse hair
ORPHA:769	INSR	3643	HP:0009830	Peripheral neuropathy
ORPHA:769	INSR	3643	HP:0006288	Advanced eruption of teeth
ORPHA:769	INSR	3643	HP:0000820	Abnormality of the thyroid gland
ORPHA:769	INSR	3643	HP:0004322	Short stature
ORPHA:769	INSR	3643	HP:0000093	Proteinuria
ORPHA:769	INSR	3643	HP:0000956	Acanthosis nigricans
ORPHA:769	INSR	3643	HP:0002230	Generalized hirsutism
ORPHA:769	INSR	3643	HP:0000819	Diabetes mellitus
ORPHA:769	INSR	3643	HP:0004298	Abnormality of the abdominal wall
ORPHA:769	INSR	3643	HP:0001805	Thick nail
ORPHA:769	INSR	3643	HP:0010458	Female pseudohermaphroditism
ORPHA:769	INSR	3643	HP:0001156	Brachydactyly
ORPHA:769	INSR	3643	HP:0000280	Coarse facial features
ORPHA:769	INSR	3643	HP:0001511	Intrauterine growth retardation
ORPHA:769	INSR	3643	HP:0000303	Mandibular prognathia
ORPHA:769	INSR	3643	HP:0000845	Growth hormone excess
ORPHA:769	INSR	3643	HP:0000958	Dry skin
ORPHA:88621	SLC27A4	10999	HP:0001622	Premature birth
ORPHA:88621	SLC27A4	10999	HP:0001880	Eosinophilia
ORPHA:88621	SLC27A4	10999	HP:0002643	Neonatal respiratory distress
ORPHA:88621	SLC27A4	10999	HP:0007549	Desquamation of skin soon after birth
ORPHA:88621	SLC27A4	10999	HP:0008064	Ichthyosis
OMIM:168550	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:168550	MSX2	4488	HP:0025247	Dermoid cyst
OMIM:168550	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168550	MSX2	4488	HP:0000256	Macrocephaly
OMIM:168550	MSX2	4488	HP:0008551	Microtia
OMIM:168550	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:168550	MSX2	4488	HP:0000894	Short clavicles
OMIM:168550	MSX2	4488	HP:0004492	Widely patent fontanelles and sutures
OMIM:260300	FBXO7	25793	HP:0000514	Slow saccadic eye movements
OMIM:260300	FBXO7	25793	HP:0002172	Postural instability
OMIM:260300	FBXO7	25793	HP:0002061	Lower limb spasticity
OMIM:260300	FBXO7	25793	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:260300	FBXO7	25793	HP:0003677	Slow progression
OMIM:260300	FBXO7	25793	HP:0002067	Bradykinesia
OMIM:260300	FBXO7	25793	HP:0001347	Hyperreflexia
OMIM:260300	FBXO7	25793	HP:0000338	Hypomimic face
OMIM:260300	FBXO7	25793	HP:0001260	Dysarthria
OMIM:260300	FBXO7	25793	HP:0003487	Babinski sign
OMIM:260300	FBXO7	25793	HP:0001337	Tremor
OMIM:260300	FBXO7	25793	HP:0011462	Young adult onset
OMIM:260300	FBXO7	25793	HP:0012407	Scissor gait
OMIM:260300	FBXO7	25793	HP:0001332	Dystonia
OMIM:260300	FBXO7	25793	HP:0000007	Autosomal recessive inheritance
OMIM:260300	FBXO7	25793	HP:0001762	Talipes equinovarus
OMIM:260300	FBXO7	25793	HP:0002063	Rigidity
OMIM:260300	FBXO7	25793	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
ORPHA:597	RYR1	6261	HP:0001252	Muscular hypotonia
ORPHA:597	RYR1	6261	HP:0003803	Type 1 muscle fiber predominance
ORPHA:597	RYR1	6261	HP:0003798	Nemaline bodies
ORPHA:597	RYR1	6261	HP:0003198	Myopathy
ORPHA:70567	PTPN3	5774	HP:0011985	Acholic stools
ORPHA:70567	PTPN3	5774	HP:0000952	Jaundice
ORPHA:70567	PTPN3	5774	HP:0000989	Pruritus
ORPHA:70567	PTPN3	5774	HP:0100574	Biliary tract neoplasm
ORPHA:70567	PTPN3	5774	HP:0012378	Fatigue
OMIM:153700	BEST1	7439	HP:0000505	Visual impairment
OMIM:153700	BEST1	7439	HP:0008028	Cystoid macular degeneration
OMIM:153700	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:153700	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:153700	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:153700	BEST1	7439	HP:0007754	Macular dystrophy
OMIM:615293	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:615344	KCNK3	3777	HP:0005317	Increased pulmonary vascular resistance
OMIM:615344	KCNK3	3777	HP:0000006	Autosomal dominant inheritance
OMIM:615344	KCNK3	3777	HP:0003829	Incomplete penetrance
OMIM:615344	KCNK3	3777	HP:0003676	Progressive
OMIM:615344	KCNK3	3777	HP:0002092	Pulmonary arterial hypertension
OMIM:611093	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611093	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:115700	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:115700	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:260000	GRHPR	9380	HP:0000121	Nephrocalcinosis
OMIM:260000	GRHPR	9380	HP:0003355	Aminoaciduria
OMIM:260000	GRHPR	9380	HP:0000790	Hematuria
OMIM:260000	GRHPR	9380	HP:0003828	Variable expressivity
OMIM:260000	GRHPR	9380	HP:0000007	Autosomal recessive inheritance
OMIM:260000	GRHPR	9380	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:260000	GRHPR	9380	HP:0003159	Hyperoxaluria
OMIM:613617	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613617	ZNF513	130557	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613617	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ZNF513	130557	HP:0007994	Peripheral visual field loss
OMIM:613617	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ZNF513	130557	HP:0001141	Severe visual impairment
OMIM:613617	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613617	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:615009	PACS1	55690	HP:0000750	Delayed speech and language development
OMIM:615009	PACS1	55690	HP:0002714	Downturned corners of mouth
OMIM:615009	PACS1	55690	HP:0000508	Ptosis
OMIM:615009	PACS1	55690	HP:0001290	Generalized hypotonia
OMIM:615009	PACS1	55690	HP:0000006	Autosomal dominant inheritance
OMIM:615009	PACS1	55690	HP:0000545	Myopia
OMIM:615009	PACS1	55690	HP:0000699	Diastema
OMIM:615009	PACS1	55690	HP:0002580	Volvulus
OMIM:615009	PACS1	55690	HP:0002553	Highly arched eyebrow
OMIM:615009	PACS1	55690	HP:0000486	Strabismus
OMIM:615009	PACS1	55690	HP:0006610	Wide intermamillary distance
OMIM:615009	PACS1	55690	HP:0011098	Speech apraxia
OMIM:615009	PACS1	55690	HP:0002389	Cavum septum pellucidum
OMIM:615009	PACS1	55690	HP:0000316	Hypertelorism
OMIM:615009	PACS1	55690	HP:0000494	Downslanted palpebral fissures
OMIM:615009	PACS1	55690	HP:0000718	Aggressive behavior
OMIM:615009	PACS1	55690	HP:0000219	Thin upper lip vermilion
OMIM:615009	PACS1	55690	HP:0000294	Low anterior hairline
OMIM:615009	PACS1	55690	HP:0000369	Low-set ears
OMIM:615009	PACS1	55690	HP:0000664	Synophrys
OMIM:615009	PACS1	55690	HP:0000527	Long eyelashes
OMIM:615009	PACS1	55690	HP:0000414	Bulbous nose
OMIM:615009	PACS1	55690	HP:0002019	Constipation
OMIM:615009	PACS1	55690	HP:0011968	Feeding difficulties
OMIM:615009	PACS1	55690	HP:0000400	Macrotia
OMIM:615009	PACS1	55690	HP:0000639	Nystagmus
OMIM:615009	PACS1	55690	HP:0001263	Global developmental delay
OMIM:615009	PACS1	55690	HP:0000028	Cryptorchidism
OMIM:615009	PACS1	55690	HP:0000319	Smooth philtrum
OMIM:615009	PACS1	55690	HP:0001195	Single umbilical artery
OMIM:615009	PACS1	55690	HP:0001763	Pes planus
OMIM:615009	PACS1	55690	HP:0000154	Wide mouth
OMIM:615009	PACS1	55690	HP:0001249	Intellectual disability
OMIM:615009	PACS1	55690	HP:0001250	Seizures
ORPHA:79152	FDPS	2224	HP:0200044	Porokeratosis
ORPHA:79152	FDPS	2224	HP:0000992	Cutaneous photosensitivity
ORPHA:79152	MVD	4597	HP:0200044	Porokeratosis
ORPHA:79152	MVD	4597	HP:0000992	Cutaneous photosensitivity
ORPHA:79152	MVK	4598	HP:0200044	Porokeratosis
ORPHA:79152	MVK	4598	HP:0000992	Cutaneous photosensitivity
ORPHA:79152	SLC17A9	63910	HP:0200044	Porokeratosis
ORPHA:79152	SLC17A9	63910	HP:0000992	Cutaneous photosensitivity
OMIM:143100	HTT	3064	HP:0002066	Gait ataxia
OMIM:143100	HTT	3064	HP:0002529	Neuronal loss in central nervous system
OMIM:143100	HTT	3064	HP:0000496	Abnormality of eye movement
OMIM:143100	HTT	3064	HP:0000751	Personality changes
OMIM:143100	HTT	3064	HP:0001272	Cerebellar atrophy
OMIM:143100	HTT	3064	HP:0002067	Bradykinesia
OMIM:143100	HTT	3064	HP:0000006	Autosomal dominant inheritance
OMIM:143100	HTT	3064	HP:0000726	Dementia
OMIM:143100	HTT	3064	HP:0001347	Hyperreflexia
OMIM:143100	HTT	3064	HP:0002171	Gliosis
OMIM:143100	HTT	3064	HP:0001250	Seizures
OMIM:143100	HTT	3064	HP:0000716	Depressivity
OMIM:143100	HTT	3064	HP:0002072	Chorea
OMIM:143100	TBX18	9096	HP:0002066	Gait ataxia
OMIM:143100	TBX18	9096	HP:0002529	Neuronal loss in central nervous system
OMIM:143100	TBX18	9096	HP:0000496	Abnormality of eye movement
OMIM:143100	TBX18	9096	HP:0000751	Personality changes
OMIM:143100	TBX18	9096	HP:0001272	Cerebellar atrophy
OMIM:143100	TBX18	9096	HP:0002067	Bradykinesia
OMIM:143100	TBX18	9096	HP:0000006	Autosomal dominant inheritance
OMIM:143100	TBX18	9096	HP:0000726	Dementia
OMIM:143100	TBX18	9096	HP:0001347	Hyperreflexia
OMIM:143100	TBX18	9096	HP:0002171	Gliosis
OMIM:143100	TBX18	9096	HP:0001250	Seizures
OMIM:143100	TBX18	9096	HP:0000716	Depressivity
OMIM:143100	TBX18	9096	HP:0002072	Chorea
OMIM:601894	FN1	2335	HP:0000100	Nephrotic syndrome
OMIM:601894	FN1	2335	HP:0005584	Renal cell carcinoma
OMIM:601894	FN1	2335	HP:0003774	Stage 5 chronic kidney disease
OMIM:601894	FN1	2335	HP:0000006	Autosomal dominant inheritance
OMIM:601894	FN1	2335	HP:0004916	Generalized distal tubular acidosis
OMIM:601894	FN1	2335	HP:0100820	Glomerulopathy
OMIM:601894	FN1	2335	HP:0002907	Microscopic hematuria
OMIM:601894	FN1	2335	HP:0000093	Proteinuria
OMIM:601894	FN1	2335	HP:0003677	Slow progression
OMIM:601894	FN1	2335	HP:0000822	Hypertension
OMIM:119900	HPGD	3248	HP:0000006	Autosomal dominant inheritance
OMIM:119900	HPGD	3248	HP:0001217	Clubbing
OMIM:119900	HPGD	3248	HP:0000007	Autosomal recessive inheritance
OMIM:614257	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:226980	EIF2AK3	9451	HP:0004322	Short stature
OMIM:226980	EIF2AK3	9451	HP:0030043	Hip subluxation
OMIM:226980	EIF2AK3	9451	HP:0000316	Hypertelorism
OMIM:226980	EIF2AK3	9451	HP:0001276	Hypertonia
OMIM:226980	EIF2AK3	9451	HP:0000083	Renal insufficiency
OMIM:226980	EIF2AK3	9451	HP:0000007	Autosomal recessive inheritance
OMIM:226980	EIF2AK3	9451	HP:0002827	Hip dislocation
OMIM:226980	EIF2AK3	9451	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:226980	EIF2AK3	9451	HP:0001498	Carpal bone hypoplasia
OMIM:226980	EIF2AK3	9451	HP:0002656	Epiphyseal dysplasia
OMIM:226980	EIF2AK3	9451	HP:0003311	Hypoplasia of the odontoid process
OMIM:226980	EIF2AK3	9451	HP:0010168	Ivory epiphyses of the toes
OMIM:226980	EIF2AK3	9451	HP:0002868	Narrow iliac wings
OMIM:226980	EIF2AK3	9451	HP:0002673	Coxa valga
OMIM:226980	EIF2AK3	9451	HP:0000926	Platyspondyly
OMIM:226980	EIF2AK3	9451	HP:0005280	Depressed nasal bridge
OMIM:226980	EIF2AK3	9451	HP:0003301	Irregular vertebral endplates
OMIM:226980	EIF2AK3	9451	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:226980	EIF2AK3	9451	HP:0000218	High palate
OMIM:226980	EIF2AK3	9451	HP:0003307	Hyperlordosis
OMIM:226980	EIF2AK3	9451	HP:0003593	Infantile onset
OMIM:226980	EIF2AK3	9451	HP:0010585	Small epiphyses
OMIM:226980	EIF2AK3	9451	HP:0001263	Global developmental delay
OMIM:226980	EIF2AK3	9451	HP:0003071	Flattened epiphysis
OMIM:226980	EIF2AK3	9451	HP:0100651	Type I diabetes mellitus
OMIM:226980	EIF2AK3	9451	HP:0002857	Genu valgum
OMIM:226980	EIF2AK3	9451	HP:0004236	Irregular carpal bones
OMIM:226980	EIF2AK3	9451	HP:0002654	Multiple epiphyseal dysplasia
OMIM:226980	EIF2AK3	9451	HP:0006274	Reduced pancreatic beta cells
OMIM:226980	EIF2AK3	9451	HP:0000939	Osteoporosis
OMIM:226980	EIF2AK3	9451	HP:0010234	Ivory epiphyses of the phalanges of the hand
OMIM:226980	EIF2AK3	9451	HP:0004467	Preauricular pit
OMIM:226980	EIF2AK3	9451	HP:0000582	Upslanted palpebral fissure
OMIM:226980	EIF2AK3	9451	HP:0002240	Hepatomegaly
OMIM:226980	EIF2AK3	9451	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:226980	EIF2AK3	9451	HP:0008134	Irregular tarsal ossification
OMIM:226980	EIF2AK3	9451	HP:0001552	Barrel-shaped chest
OMIM:226980	EIF2AK3	9451	HP:0000252	Microcephaly
OMIM:257920	MASP1	5648	HP:0000678	Dental crowding
OMIM:257920	MASP1	5648	HP:0000524	Conjunctival telangiectasia
OMIM:257920	MASP1	5648	HP:0003298	Spina bifida occulta
OMIM:257920	MASP1	5648	HP:0000501	Glaucoma
OMIM:257920	MASP1	5648	HP:0000260	Wide anterior fontanel
OMIM:257920	MASP1	5648	HP:0004440	Coronal craniosynostosis
OMIM:257920	MASP1	5648	HP:0008897	Postnatal growth retardation
OMIM:257920	MASP1	5648	HP:0000537	Epicanthus inversus
OMIM:257920	MASP1	5648	HP:0002678	Skull asymmetry
OMIM:257920	MASP1	5648	HP:0001631	Atrial septal defect
OMIM:257920	MASP1	5648	HP:0001256	Intellectual disability, mild
OMIM:257920	MASP1	5648	HP:0001773	Short foot
OMIM:257920	MASP1	5648	HP:0002974	Radioulnar synostosis
OMIM:257920	MASP1	5648	HP:0000175	Cleft palate
OMIM:257920	MASP1	5648	HP:0001629	Ventricular septal defect
OMIM:257920	MASP1	5648	HP:0000960	Sacral dimple
OMIM:257920	MASP1	5648	HP:0001769	Broad foot
OMIM:257920	MASP1	5648	HP:0000007	Autosomal recessive inheritance
OMIM:257920	MASP1	5648	HP:0000204	Cleft upper lip
OMIM:257920	MASP1	5648	HP:0000405	Conductive hearing impairment
OMIM:257920	MASP1	5648	HP:0000581	Blepharophimosis
OMIM:257920	MASP1	5648	HP:0000252	Microcephaly
OMIM:257920	MASP1	5648	HP:0002825	Caudal appendage
OMIM:257920	MASP1	5648	HP:0002558	Supernumerary nipple
OMIM:257920	MASP1	5648	HP:0004209	Clinodactyly of the 5th finger
OMIM:257920	MASP1	5648	HP:0004443	Lambdoidal craniosynostosis
OMIM:257920	MASP1	5648	HP:0000316	Hypertelorism
OMIM:257920	MASP1	5648	HP:0001643	Patent ductus arteriosus
OMIM:257920	MASP1	5648	HP:0000126	Hydronephrosis
OMIM:257920	MASP1	5648	HP:0009237	Short 5th finger
OMIM:257920	MASP1	5648	HP:0000593	Abnormality of the anterior chamber
OMIM:257920	MASP1	5648	HP:0001510	Growth delay
OMIM:257920	MASP1	5648	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:257920	MASP1	5648	HP:0009891	Underdeveloped supraorbital ridges
OMIM:257920	MASP1	5648	HP:0000508	Ptosis
OMIM:257920	MASP1	5648	HP:0001539	Omphalocele
OMIM:257920	MASP1	5648	HP:0002553	Highly arched eyebrow
OMIM:257920	MASP1	5648	HP:0000496	Abnormality of eye movement
OMIM:615270	FGF17	8822	HP:0000135	Hypogonadism
OMIM:615270	FGF17	8822	HP:0000823	Delayed puberty
OMIM:615270	FGF17	8822	HP:0000006	Autosomal dominant inheritance
ORPHA:93317	GPX4	2879	HP:0004991	Rhizomelic arm shortening
ORPHA:93317	GPX4	2879	HP:0002750	Delayed skeletal maturation
ORPHA:93317	GPX4	2879	HP:0003085	Long fibula
ORPHA:93317	GPX4	2879	HP:0008786	Iliac crest serration
ORPHA:93317	GPX4	2879	HP:0004279	Short palm
ORPHA:93317	GPX4	2879	HP:0001290	Generalized hypotonia
ORPHA:93317	GPX4	2879	HP:0001321	Cerebellar hypoplasia
ORPHA:93317	GPX4	2879	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:93317	GPX4	2879	HP:0005871	Metaphyseal chondrodysplasia
ORPHA:93317	GPX4	2879	HP:0000772	Abnormality of the ribs
ORPHA:93317	GPX4	2879	HP:0000774	Narrow chest
ORPHA:93317	GPX4	2879	HP:0000262	Turricephaly
ORPHA:93317	GPX4	2879	HP:0000926	Platyspondyly
ORPHA:93317	GPX4	2879	HP:0006543	Cardiorespiratory arrest
ORPHA:93317	GPX4	2879	HP:0011675	Arrhythmia
ORPHA:93317	GPX4	2879	HP:0000782	Abnormality of the scapula
ORPHA:93317	GPX4	2879	HP:0001678	Atrioventricular block
ORPHA:93317	GPX4	2879	HP:0010049	Short metacarpal
OMIM:310440	VMA21	203547	HP:0002486	Myotonia
OMIM:310440	VMA21	203547	HP:0009046	Difficulty running
OMIM:310440	VMA21	203547	HP:0003198	Myopathy
OMIM:310440	VMA21	203547	HP:0003202	Skeletal muscle atrophy
OMIM:310440	VMA21	203547	HP:0003391	Gowers sign
OMIM:310440	VMA21	203547	HP:0003677	Slow progression
OMIM:310440	VMA21	203547	HP:0003829	Incomplete penetrance
OMIM:310440	VMA21	203547	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:310440	VMA21	203547	HP:0003551	Difficulty climbing stairs
OMIM:310440	VMA21	203547	HP:0001419	X-linked recessive inheritance
OMIM:310440	VMA21	203547	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617412	RPS23	6228	HP:0000377	Abnormality of the pinna
OMIM:617412	RPS23	6228	HP:0001256	Intellectual disability, mild
OMIM:617412	RPS23	6228	HP:0000405	Conductive hearing impairment
OMIM:617412	RPS23	6228	HP:0011069	Increased number of teeth
OMIM:617412	RPS23	6228	HP:0000369	Low-set ears
OMIM:617412	RPS23	6228	HP:0000252	Microcephaly
OMIM:617412	RPS23	6228	HP:0005469	Flat occiput
OMIM:617412	RPS23	6228	HP:0000286	Epicanthus
OMIM:617412	RPS23	6228	HP:0002553	Highly arched eyebrow
OMIM:617412	RPS23	6228	HP:0000574	Thick eyebrow
OMIM:617412	RPS23	6228	HP:0000527	Long eyelashes
OMIM:617412	RPS23	6228	HP:0000729	Autistic behavior
OMIM:617412	RPS23	6228	HP:0001290	Generalized hypotonia
OMIM:617412	RPS23	6228	HP:0000006	Autosomal dominant inheritance
OMIM:617412	RPS23	6228	HP:0001270	Motor delay
OMIM:617412	RPS23	6228	HP:0005280	Depressed nasal bridge
OMIM:617412	RPS23	6228	HP:0004322	Short stature
OMIM:617412	RPS23	6228	HP:0000218	High palate
OMIM:617412	RPS23	6228	HP:0000954	Single transverse palmar crease
OMIM:617412	RPS23	6228	HP:0000175	Cleft palate
OMIM:276904	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:276904	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:276904	USH1C	10083	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	USH1C	10083	HP:0001756	Vestibular hypofunction
OMIM:617425	EXTL3	2137	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:617425	EXTL3	2137	HP:0001156	Brachydactyly
OMIM:617425	EXTL3	2137	HP:0003083	Dislocated radial head
OMIM:617425	EXTL3	2137	HP:0001249	Intellectual disability
OMIM:617425	EXTL3	2137	HP:0005280	Depressed nasal bridge
OMIM:617425	EXTL3	2137	HP:0000455	Broad nasal tip
OMIM:617425	EXTL3	2137	HP:0000954	Single transverse palmar crease
OMIM:617425	EXTL3	2137	HP:0001270	Motor delay
OMIM:617425	EXTL3	2137	HP:0001216	Delayed ossification of carpal bones
OMIM:617425	EXTL3	2137	HP:0002656	Epiphyseal dysplasia
OMIM:617425	EXTL3	2137	HP:0002751	Kyphoscoliosis
OMIM:617425	EXTL3	2137	HP:0000448	Prominent nose
OMIM:617425	EXTL3	2137	HP:0002673	Coxa valga
OMIM:617425	EXTL3	2137	HP:0001880	Eosinophilia
OMIM:617425	EXTL3	2137	HP:0100255	Metaphyseal dysplasia
OMIM:617425	EXTL3	2137	HP:0000007	Autosomal recessive inheritance
OMIM:617425	EXTL3	2137	HP:0003498	Disproportionate short stature
OMIM:617425	EXTL3	2137	HP:0004313	Decreased antibody level in blood
OMIM:617425	EXTL3	2137	HP:0002719	Recurrent infections
OMIM:617425	EXTL3	2137	HP:0003375	Narrow greater sacrosciatic notches
OMIM:617425	EXTL3	2137	HP:0000293	Full cheeks
OMIM:617425	EXTL3	2137	HP:0000926	Platyspondyly
OMIM:617425	EXTL3	2137	HP:0000280	Coarse facial features
OMIM:613982	SERPINF1	5176	HP:0004586	Biconcave vertebral bodies
OMIM:613982	SERPINF1	5176	HP:0002659	Increased susceptibility to fractures
OMIM:613982	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:613982	SERPINF1	5176	HP:0001388	Joint laxity
OMIM:613982	SERPINF1	5176	HP:0002953	Vertebral compression fractures
OMIM:613982	SERPINF1	5176	HP:0003179	Protrusio acetabuli
OMIM:613982	SERPINF1	5176	HP:0004568	Beaking of vertebral bodies
OMIM:613982	SERPINF1	5176	HP:0002812	Coxa vara
OMIM:215700	ASS1	445	HP:0001251	Ataxia
OMIM:215700	ASS1	445	HP:0001950	Respiratory alkalosis
OMIM:215700	ASS1	445	HP:0002181	Cerebral edema
OMIM:215700	ASS1	445	HP:0005961	Hypoargininemia
OMIM:215700	ASS1	445	HP:0000737	Irritability
OMIM:215700	ASS1	445	HP:0001254	Lethargy
OMIM:215700	ASS1	445	HP:0001263	Global developmental delay
OMIM:215700	ASS1	445	HP:0003623	Neonatal onset
OMIM:215700	ASS1	445	HP:0001249	Intellectual disability
OMIM:215700	ASS1	445	HP:0001394	Cirrhosis
OMIM:215700	ASS1	445	HP:0001951	Episodic ammonia intoxication
OMIM:215700	ASS1	445	HP:0003218	Oroticaciduria
OMIM:215700	ASS1	445	HP:0000007	Autosomal recessive inheritance
OMIM:215700	ASS1	445	HP:0001259	Coma
OMIM:215700	ASS1	445	HP:0002038	Protein avoidance
OMIM:215700	ASS1	445	HP:0003812	Phenotypic variability
OMIM:215700	ASS1	445	HP:0002240	Hepatomegaly
OMIM:215700	ASS1	445	HP:0001508	Failure to thrive
OMIM:215700	ASS1	445	HP:0002013	Vomiting
OMIM:215700	ASS1	445	HP:0001250	Seizures
OMIM:215700	ASS1	445	HP:0003217	Hyperglutaminemia
OMIM:215700	ASS1	445	HP:0001987	Hyperammonemia
OMIM:607361	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:607361	TMEM67	91147	HP:0002084	Encephalocele
OMIM:607361	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:607361	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:607361	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:607361	TMEM67	91147	HP:0010442	Polydactyly
OMIM:181400	DES	1674	HP:0001762	Talipes equinovarus
OMIM:181400	DES	1674	HP:0009027	Foot dorsiflexor weakness
OMIM:181400	DES	1674	HP:0003724	Shoulder girdle muscle atrophy
OMIM:181400	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:181400	DES	1674	HP:0009049	Peroneal muscle atrophy
OMIM:181400	DES	1674	HP:0003704	Scapuloperoneal weakness
OMIM:608022	BMPER	168667	HP:0002089	Pulmonary hypoplasia
OMIM:608022	BMPER	168667	HP:0000239	Large fontanelles
OMIM:608022	BMPER	168667	HP:0000457	Depressed nasal ridge
OMIM:608022	BMPER	168667	HP:0001762	Talipes equinovarus
OMIM:608022	BMPER	168667	HP:0001263	Global developmental delay
OMIM:608022	BMPER	168667	HP:0002098	Respiratory distress
OMIM:608022	BMPER	168667	HP:0001765	Hammertoe
OMIM:608022	BMPER	168667	HP:0000921	Missing ribs
OMIM:608022	BMPER	168667	HP:0000175	Cleft palate
OMIM:608022	BMPER	168667	HP:0000316	Hypertelorism
OMIM:608022	BMPER	168667	HP:0001562	Oligohydramnios
OMIM:608022	BMPER	168667	HP:0008435	Absent in utero ossification of vertebral bodies
OMIM:608022	BMPER	168667	HP:0005280	Depressed nasal bridge
OMIM:608022	BMPER	168667	HP:0003521	Disproportionate short-trunk short stature
OMIM:608022	BMPER	168667	HP:0200133	Lumbosacral meningocele
OMIM:608022	BMPER	168667	HP:0001591	Bell-shaped thorax
OMIM:608022	BMPER	168667	HP:0000347	Micrognathia
OMIM:608022	BMPER	168667	HP:0003196	Short nose
OMIM:608022	BMPER	168667	HP:0000286	Epicanthus
OMIM:608022	BMPER	168667	HP:0001290	Generalized hypotonia
OMIM:608022	BMPER	168667	HP:0001252	Muscular hypotonia
OMIM:608022	BMPER	168667	HP:0008643	Nephroblastomatosis
OMIM:608022	BMPER	168667	HP:0002093	Respiratory insufficiency
OMIM:608022	BMPER	168667	HP:0002126	Polymicrogyria
OMIM:608022	BMPER	168667	HP:0000023	Inguinal hernia
OMIM:608022	BMPER	168667	HP:0006615	Absent in utero rib ossification
OMIM:608022	BMPER	168667	HP:0000465	Webbed neck
OMIM:608022	BMPER	168667	HP:0010880	Increased nuchal translucency
OMIM:608022	BMPER	168667	HP:0000800	Cystic renal dysplasia
OMIM:608022	BMPER	168667	HP:0001511	Intrauterine growth retardation
OMIM:608022	BMPER	168667	HP:0000007	Autosomal recessive inheritance
OMIM:608022	BMPER	168667	HP:0000470	Short neck
OMIM:608022	BMPER	168667	HP:0030290	Unossified sacrum
OMIM:608022	BMPER	168667	HP:0002779	Tracheomalacia
OMIM:608022	BMPER	168667	HP:0005257	Thoracic hypoplasia
OMIM:608022	BMPER	168667	HP:0000105	Enlarged kidney
OMIM:608022	BMPER	168667	HP:0001804	Hypoplastic fingernail
OMIM:608022	BMPER	168667	HP:0100880	Nephrogenic rest
OMIM:608022	BMPER	168667	HP:0000369	Low-set ears
OMIM:608022	BMPER	168667	HP:0100752	Abnormal liver lobulation
OMIM:608022	BMPER	168667	HP:0001538	Protuberant abdomen
OMIM:608022	BMPER	168667	HP:0003275	Narrow pelvis bone
OMIM:608022	BMPER	168667	HP:0003422	Vertebral segmentation defect
OMIM:614839	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:614839	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614839	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607326	DYM	54808	HP:0004568	Beaking of vertebral bodies
OMIM:607326	DYM	54808	HP:0010582	Irregular epiphyses
OMIM:607326	DYM	54808	HP:0002970	Genu varum
OMIM:607326	DYM	54808	HP:0003274	Hypoplastic acetabulae
OMIM:607326	DYM	54808	HP:0009803	Short phalanx of finger
OMIM:607326	DYM	54808	HP:0010049	Short metacarpal
OMIM:607326	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:607326	DYM	54808	HP:0008829	Delayed femoral head ossification
OMIM:607326	DYM	54808	HP:0008835	Multicentric femoral head ossification
OMIM:607326	DYM	54808	HP:0002515	Waddling gait
OMIM:607326	DYM	54808	HP:0002808	Kyphosis
OMIM:607326	DYM	54808	HP:0003467	Atlantoaxial instability
OMIM:607326	DYM	54808	HP:0002857	Genu valgum
OMIM:607326	DYM	54808	HP:0002650	Scoliosis
OMIM:607326	DYM	54808	HP:0002692	Hypoplastic facial bones
OMIM:607326	DYM	54808	HP:0003025	Metaphyseal irregularity
OMIM:607326	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
OMIM:607326	DYM	54808	HP:0000007	Autosomal recessive inheritance
OMIM:607326	DYM	54808	HP:0000926	Platyspondyly
OMIM:607326	DYM	54808	HP:0000884	Prominent sternum
OMIM:607326	DYM	54808	HP:0000882	Hypoplastic scapulae
OMIM:607326	DYM	54808	HP:0000252	Microcephaly
OMIM:607326	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:607326	DYM	54808	HP:0000268	Dolichocephaly
OMIM:607326	DYM	54808	HP:0002681	Deformed sella turcica
OMIM:614608	SMARCB1	6598	HP:0000154	Wide mouth
OMIM:614608	SMARCB1	6598	HP:0002750	Delayed skeletal maturation
OMIM:614608	SMARCB1	6598	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	SMARCB1	6598	HP:0005280	Depressed nasal bridge
OMIM:614608	SMARCB1	6598	HP:0002650	Scoliosis
OMIM:614608	SMARCB1	6598	HP:0000280	Coarse facial features
OMIM:614608	SMARCB1	6598	HP:0000158	Macroglossia
OMIM:614608	SMARCB1	6598	HP:0001511	Intrauterine growth retardation
OMIM:614608	SMARCB1	6598	HP:0002209	Sparse scalp hair
OMIM:614608	SMARCB1	6598	HP:0004322	Short stature
OMIM:614608	SMARCB1	6598	HP:0000365	Hearing impairment
OMIM:614608	SMARCB1	6598	HP:0011968	Feeding difficulties
OMIM:614608	SMARCB1	6598	HP:0000998	Hypertrichosis
OMIM:614608	SMARCB1	6598	HP:0001273	Abnormality of the corpus callosum
OMIM:614608	SMARCB1	6598	HP:0000445	Wide nose
OMIM:614608	SMARCB1	6598	HP:0001263	Global developmental delay
OMIM:614608	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:614608	SMARCB1	6598	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:614608	SMARCB1	6598	HP:0001290	Generalized hypotonia
OMIM:614608	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:614608	SMARCB1	6598	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614608	SMARCB1	6598	HP:0000463	Anteverted nares
OMIM:614608	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:614608	SMARCB1	6598	HP:0008070	Sparse hair
OMIM:614608	SMARCB1	6598	HP:0000505	Visual impairment
OMIM:614608	SMARCB1	6598	HP:0000574	Thick eyebrow
OMIM:236800	KYNU	8942	HP:0001649	Tachycardia
OMIM:236800	KYNU	8942	HP:0001259	Coma
OMIM:236800	KYNU	8942	HP:0000124	Renal tubular dysfunction
OMIM:236800	KYNU	8942	HP:0003355	Aminoaciduria
OMIM:236800	KYNU	8942	HP:0001942	Metabolic acidosis
OMIM:236800	KYNU	8942	HP:0000365	Hearing impairment
OMIM:236800	KYNU	8942	HP:0000007	Autosomal recessive inheritance
OMIM:236800	KYNU	8942	HP:0003011	Abnormality of the musculature
OMIM:236800	KYNU	8942	HP:0002086	Abnormality of the respiratory system
OMIM:236800	KYNU	8942	HP:0007030	Nonprogressive encephalopathy
OMIM:236800	KYNU	8942	HP:0001263	Global developmental delay
OMIM:236800	KYNU	8942	HP:0002615	Hypotension
OMIM:236800	KYNU	8942	HP:0001276	Hypertonia
OMIM:236800	KYNU	8942	HP:0001249	Intellectual disability
OMIM:164500	ATXN7	6314	HP:0001310	Dysmetria
OMIM:164500	ATXN7	6314	HP:0000006	Autosomal dominant inheritance
OMIM:164500	ATXN7	6314	HP:0000529	Progressive visual loss
OMIM:164500	ATXN7	6314	HP:0000623	Supranuclear ophthalmoplegia
OMIM:164500	ATXN7	6314	HP:0002542	Olivopontocerebellar atrophy
OMIM:164500	ATXN7	6314	HP:0001146	Pigmentary retinal degeneration
OMIM:164500	ATXN7	6314	HP:0002310	Orofacial dyskinesia
OMIM:164500	ATXN7	6314	HP:0000514	Slow saccadic eye movements
OMIM:164500	ATXN7	6314	HP:0003744	Genetic anticipation with paternal anticipation bias
OMIM:164500	ATXN7	6314	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:164500	ATXN7	6314	HP:0002015	Dysphagia
OMIM:164500	ATXN7	6314	HP:0003487	Babinski sign
OMIM:164500	ATXN7	6314	HP:0002072	Chorea
OMIM:164500	ATXN7	6314	HP:0000608	Macular degeneration
OMIM:164500	ATXN7	6314	HP:0001257	Spasticity
OMIM:617306	MITF	4286	HP:0000256	Macrocephaly
OMIM:617306	MITF	4286	HP:0000589	Coloboma
OMIM:617306	MITF	4286	HP:0000358	Posteriorly rotated ears
OMIM:617306	MITF	4286	HP:0000347	Micrognathia
OMIM:617306	MITF	4286	HP:0002007	Frontal bossing
OMIM:617306	MITF	4286	HP:0004467	Preauricular pit
OMIM:617306	MITF	4286	HP:0000007	Autosomal recessive inheritance
OMIM:617306	MITF	4286	HP:0011002	Osteopetrosis
OMIM:617306	MITF	4286	HP:0000586	Shallow orbits
OMIM:617306	MITF	4286	HP:0001290	Generalized hypotonia
OMIM:614874	DNAAF5	54919	HP:0003593	Infantile onset
OMIM:614874	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAAF5	54919	HP:0012265	Ciliary dyskinesia
OMIM:614874	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:614874	DNAAF5	54919	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:614874	DNAAF5	54919	HP:0003251	Male infertility
OMIM:614874	DNAAF5	54919	HP:0012208	Nonmotile sperm
OMIM:614874	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:614874	DNAAF5	54919	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAAF5	54919	HP:0004469	Chronic bronchitis
OMIM:614874	DNAAF5	54919	HP:0012256	Absent outer dynein arms
OMIM:614874	DNAAF5	54919	HP:0012384	Rhinitis
OMIM:614874	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:614643	ISPD	729920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	ISPD	729920	HP:0002007	Frontal bossing
OMIM:614643	ISPD	729920	HP:0000490	Deeply set eye
OMIM:614643	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:614643	ISPD	729920	HP:0000369	Low-set ears
OMIM:614643	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	ISPD	729920	HP:0000568	Microphthalmia
OMIM:614643	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:614643	ISPD	729920	HP:0008551	Microtia
OMIM:614643	ISPD	729920	HP:0002084	Encephalocele
OMIM:614643	ISPD	729920	HP:0000541	Retinal detachment
OMIM:614643	ISPD	729920	HP:0000501	Glaucoma
OMIM:614643	ISPD	729920	HP:0001558	Decreased fetal movement
OMIM:614643	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	ISPD	729920	HP:0001181	Adducted thumb
OMIM:614643	ISPD	729920	HP:0000659	Peters anomaly
OMIM:614643	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:614643	ISPD	729920	HP:0001284	Areflexia
OMIM:614643	ISPD	729920	HP:0007968	Remnants of the hyaloid vascular system
OMIM:614643	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:614643	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:614643	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:614643	ISPD	729920	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:614643	ISPD	729920	HP:0000278	Retrognathia
OMIM:614643	ISPD	729920	HP:0000256	Macrocephaly
OMIM:614643	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:614643	ISPD	729920	HP:0000518	Cataract
OMIM:614643	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:614643	ISPD	729920	HP:0001290	Generalized hypotonia
OMIM:614643	ISPD	729920	HP:0000609	Optic nerve hypoplasia
OMIM:614643	ISPD	729920	HP:0001302	Pachygyria
OMIM:616127	CWF19L1	55280	HP:0001263	Global developmental delay
OMIM:616127	CWF19L1	55280	HP:0001260	Dysarthria
OMIM:616127	CWF19L1	55280	HP:0002317	Unsteady gait
OMIM:616127	CWF19L1	55280	HP:0000007	Autosomal recessive inheritance
OMIM:616127	CWF19L1	55280	HP:0001290	Generalized hypotonia
OMIM:616127	CWF19L1	55280	HP:0001310	Dysmetria
OMIM:616127	CWF19L1	55280	HP:0001337	Tremor
OMIM:616127	CWF19L1	55280	HP:0003680	Nonprogressive
OMIM:616127	CWF19L1	55280	HP:0001249	Intellectual disability
OMIM:616127	CWF19L1	55280	HP:0003677	Slow progression
OMIM:616127	CWF19L1	55280	HP:0003593	Infantile onset
OMIM:616127	CWF19L1	55280	HP:0002078	Truncal ataxia
OMIM:300423	ATP6AP2	10159	HP:0003487	Babinski sign
OMIM:300423	ATP6AP2	10159	HP:0001419	X-linked recessive inheritance
OMIM:300423	ATP6AP2	10159	HP:0001270	Motor delay
OMIM:300423	ATP6AP2	10159	HP:0002059	Cerebral atrophy
OMIM:300423	ATP6AP2	10159	HP:0000338	Hypomimic face
OMIM:300423	ATP6AP2	10159	HP:0001300	Parkinsonism
OMIM:300423	ATP6AP2	10159	HP:0003828	Variable expressivity
OMIM:300423	ATP6AP2	10159	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300423	ATP6AP2	10159	HP:0002067	Bradykinesia
OMIM:300423	ATP6AP2	10159	HP:0003593	Infantile onset
OMIM:300423	ATP6AP2	10159	HP:0010527	Astereognosia
OMIM:300423	ATP6AP2	10159	HP:0001272	Cerebellar atrophy
OMIM:300423	ATP6AP2	10159	HP:0001265	Hyporeflexia
OMIM:300423	ATP6AP2	10159	HP:0002069	Generalized tonic-clonic seizures
OMIM:300423	ATP6AP2	10159	HP:0011812	Agraphesthesia
OMIM:300423	ATP6AP2	10159	HP:0002345	Action tremor
OMIM:300423	ATP6AP2	10159	HP:0001249	Intellectual disability
OMIM:300423	ATP6AP2	10159	HP:0000750	Delayed speech and language development
OMIM:300423	ATP6AP2	10159	HP:0001288	Gait disturbance
OMIM:187300	ENG	2022	HP:0000524	Conjunctival telangiectasia
OMIM:187300	ENG	2022	HP:0002629	Gastrointestinal arteriovenous malformation
OMIM:187300	ENG	2022	HP:0006107	Fingerpad telangiectases
OMIM:187300	ENG	2022	HP:0002094	Dyspnea
OMIM:187300	ENG	2022	HP:0001694	Right-to-left shunt
OMIM:187300	ENG	2022	HP:0006574	Hepatic arteriovenous malformation
OMIM:187300	ENG	2022	HP:0001722	High-output congestive heart failure
OMIM:187300	ENG	2022	HP:0001217	Clubbing
OMIM:187300	ENG	2022	HP:0001425	Heterogeneous
OMIM:187300	ENG	2022	HP:0002140	Ischemic stroke
OMIM:187300	ENG	2022	HP:0000471	Gastrointestinal angiodysplasia
OMIM:187300	ENG	2022	HP:0002248	Hematemesis
OMIM:187300	ENG	2022	HP:0002626	Venous varicosities of celiac and mesenteric vessels
OMIM:187300	ENG	2022	HP:0001250	Seizures
OMIM:187300	ENG	2022	HP:0002076	Migraine
OMIM:187300	ENG	2022	HP:0000227	Tongue telangiectasia
OMIM:187300	ENG	2022	HP:0000961	Cyanosis
OMIM:187300	ENG	2022	HP:0100858	Dilatation of celiac artery
OMIM:187300	ENG	2022	HP:0001903	Anemia
OMIM:187300	ENG	2022	HP:0002604	Gastrointestinal telangiectasia
OMIM:187300	ENG	2022	HP:0000214	Lip telangiectasia
OMIM:187300	ENG	2022	HP:0002326	Transient ischemic attack
OMIM:187300	ENG	2022	HP:0006548	Pulmonary arteriovenous malformation
OMIM:187300	ENG	2022	HP:0000434	Nasal mucosa telangiectasia
OMIM:187300	ENG	2022	HP:0030049	Brain abscess
OMIM:187300	ENG	2022	HP:0001901	Polycythemia
OMIM:187300	ENG	2022	HP:0001394	Cirrhosis
OMIM:187300	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:187300	ENG	2022	HP:0002573	Hematochezia
OMIM:187300	ENG	2022	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
OMIM:187300	ENG	2022	HP:0002707	Palate telangiectasia
OMIM:187300	ENG	2022	HP:0001342	Cerebral hemorrhage
OMIM:187300	ENG	2022	HP:0011934	Dilatation of mesenteric artery
OMIM:187300	ENG	2022	HP:0004406	Spontaneous, recurrent epistaxis
OMIM:187300	ENG	2022	HP:0001232	Nail bed telangiectasia
OMIM:187300	ENG	2022	HP:0002408	Cerebral arteriovenous malformation
OMIM:187300	ENG	2022	HP:0002138	Subarachnoid hemorrhage
OMIM:187300	ENG	2022	HP:0002249	Melena
OMIM:187300	ENG	2022	HP:0002390	Spinal arteriovenous malformation
OMIM:271665	DDR2	4921	HP:0000767	Pectus excavatum
OMIM:271665	DDR2	4921	HP:0005462	Calcification of falx cerebri
OMIM:271665	DDR2	4921	HP:0003026	Short long bone
OMIM:271665	DDR2	4921	HP:0010655	Epiphyseal stippling
OMIM:271665	DDR2	4921	HP:0000347	Micrognathia
OMIM:271665	DDR2	4921	HP:0000773	Short ribs
OMIM:271665	DDR2	4921	HP:0000272	Malar flattening
OMIM:271665	DDR2	4921	HP:0002983	Micromelia
OMIM:271665	DDR2	4921	HP:0008873	Disproportionate short-limb short stature
OMIM:271665	DDR2	4921	HP:0003320	C1-C2 subluxation
OMIM:271665	DDR2	4921	HP:0006532	Recurrent pneumonia
OMIM:271665	DDR2	4921	HP:0003196	Short nose
OMIM:271665	DDR2	4921	HP:0002176	Spinal cord compression
OMIM:271665	DDR2	4921	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:271665	DDR2	4921	HP:0001252	Muscular hypotonia
OMIM:271665	DDR2	4921	HP:0006380	Knee flexion contracture
OMIM:271665	DDR2	4921	HP:0000520	Proptosis
OMIM:271665	DDR2	4921	HP:0002007	Frontal bossing
OMIM:271665	DDR2	4921	HP:0003311	Hypoplasia of the odontoid process
OMIM:271665	DDR2	4921	HP:0000316	Hypertelorism
OMIM:271665	DDR2	4921	HP:0000464	Abnormality of the neck
OMIM:271665	DDR2	4921	HP:0000007	Autosomal recessive inheritance
OMIM:271665	DDR2	4921	HP:0003015	Flared metaphysis
OMIM:271665	DDR2	4921	HP:0001230	Broad metacarpals
OMIM:271665	DDR2	4921	HP:0003467	Atlantoaxial instability
OMIM:271665	DDR2	4921	HP:0002979	Bowing of the legs
OMIM:271665	DDR2	4921	HP:0002987	Elbow flexion contracture
OMIM:271665	DDR2	4921	HP:0005280	Depressed nasal bridge
OMIM:271665	DDR2	4921	HP:0001290	Generalized hypotonia
OMIM:271665	DDR2	4921	HP:0000907	Anterior rib cupping
OMIM:271665	DDR2	4921	HP:0000218	High palate
OMIM:271665	DDR2	4921	HP:0011800	Midface retrusion
OMIM:271665	DDR2	4921	HP:0000922	Posterior rib cupping
OMIM:271665	DDR2	4921	HP:0010049	Short metacarpal
OMIM:271665	DDR2	4921	HP:0002787	Tracheal calcification
OMIM:271665	DDR2	4921	HP:0006600	Progressive calcification of costochondral cartilage
OMIM:271665	DDR2	4921	HP:0001263	Global developmental delay
OMIM:271665	DDR2	4921	HP:0002091	Restrictive ventilatory defect
OMIM:271665	DDR2	4921	HP:0002869	Flared iliac wings
OMIM:271665	DDR2	4921	HP:0009164	Abnormal calcification of the carpal bones
OMIM:271665	DDR2	4921	HP:0002650	Scoliosis
OMIM:271665	DDR2	4921	HP:0005257	Thoracic hypoplasia
OMIM:271665	DDR2	4921	HP:0000926	Platyspondyly
OMIM:271665	DDR2	4921	HP:0001591	Bell-shaped thorax
OMIM:271665	DDR2	4921	HP:0009803	Short phalanx of finger
OMIM:271665	DDR2	4921	HP:0003085	Long fibula
OMIM:271665	DDR2	4921	HP:0006009	Broad phalanx
OMIM:271665	DDR2	4921	HP:0001840	Metatarsus adductus
OMIM:271665	DDR2	4921	HP:0003396	Syringomyelia
OMIM:271665	DDR2	4921	HP:0030043	Hip subluxation
OMIM:271665	DDR2	4921	HP:0009875	Triangular shaped distal phalanges of the hand
OMIM:235555	AKR1D1	6718	HP:0001406	Intrahepatic cholestasis
OMIM:235555	AKR1D1	6718	HP:0002240	Hepatomegaly
OMIM:235555	AKR1D1	6718	HP:0001399	Hepatic failure
OMIM:235555	AKR1D1	6718	HP:0003256	Abnormality of the coagulation cascade
OMIM:235555	AKR1D1	6718	HP:0002014	Diarrhea
OMIM:235555	AKR1D1	6718	HP:0002570	Steatorrhea
OMIM:235555	AKR1D1	6718	HP:0003155	Elevated alkaline phosphatase
OMIM:235555	AKR1D1	6718	HP:0002904	Hyperbilirubinemia
OMIM:235555	AKR1D1	6718	HP:0002910	Elevated hepatic transaminases
OMIM:235555	AKR1D1	6718	HP:0003623	Neonatal onset
OMIM:235555	AKR1D1	6718	HP:0000007	Autosomal recessive inheritance
OMIM:235555	AKR1D1	6718	HP:0000952	Jaundice
OMIM:235555	AKR1D1	6718	HP:0001744	Splenomegaly
OMIM:235555	AKR1D1	6718	HP:0001508	Failure to thrive
OMIM:616281	GPT2	84706	HP:0003676	Progressive
OMIM:616281	GPT2	84706	HP:0005484	Postnatal microcephaly
OMIM:616281	GPT2	84706	HP:0001249	Intellectual disability
OMIM:616281	GPT2	84706	HP:0000007	Autosomal recessive inheritance
OMIM:616281	GPT2	84706	HP:0001298	Encephalopathy
OMIM:616281	GPT2	84706	HP:0001508	Failure to thrive
OMIM:616281	GPT2	84706	HP:0001344	Absent speech
OMIM:616281	GPT2	84706	HP:0001290	Generalized hypotonia
OMIM:616281	GPT2	84706	HP:0001263	Global developmental delay
OMIM:616281	GPT2	84706	HP:0002069	Generalized tonic-clonic seizures
OMIM:616281	GPT2	84706	HP:0002307	Drooling
OMIM:616281	GPT2	84706	HP:0001347	Hyperreflexia
OMIM:616281	GPT2	84706	HP:0001260	Dysarthria
ORPHA:71493	MPL	4352	HP:0001892	Abnormal bleeding
ORPHA:71493	MPL	4352	HP:0003401	Paresthesia
ORPHA:71493	MPL	4352	HP:0001744	Splenomegaly
ORPHA:71493	MPL	4352	HP:0004420	Arterial thrombosis
ORPHA:71493	MPL	4352	HP:0004950	Peripheral arterial stenosis
ORPHA:71493	MPL	4352	HP:0002315	Headache
ORPHA:71493	MPL	4352	HP:0002326	Transient ischemic attack
ORPHA:71493	MPL	4352	HP:0100749	Chest pain
ORPHA:71493	MPL	4352	HP:0000975	Hyperhidrosis
ORPHA:71493	MPL	4352	HP:0000989	Pruritus
ORPHA:71493	MPL	4352	HP:0001894	Thrombocytosis
ORPHA:71493	MPL	4352	HP:0004936	Venous thrombosis
ORPHA:71493	JAK2	3717	HP:0001892	Abnormal bleeding
ORPHA:71493	JAK2	3717	HP:0003401	Paresthesia
ORPHA:71493	JAK2	3717	HP:0001744	Splenomegaly
ORPHA:71493	JAK2	3717	HP:0004420	Arterial thrombosis
ORPHA:71493	JAK2	3717	HP:0004950	Peripheral arterial stenosis
ORPHA:71493	JAK2	3717	HP:0002315	Headache
ORPHA:71493	JAK2	3717	HP:0002326	Transient ischemic attack
ORPHA:71493	JAK2	3717	HP:0100749	Chest pain
ORPHA:71493	JAK2	3717	HP:0000975	Hyperhidrosis
ORPHA:71493	JAK2	3717	HP:0000989	Pruritus
ORPHA:71493	JAK2	3717	HP:0001894	Thrombocytosis
ORPHA:71493	JAK2	3717	HP:0004936	Venous thrombosis
ORPHA:71493	THPO	7066	HP:0001892	Abnormal bleeding
ORPHA:71493	THPO	7066	HP:0003401	Paresthesia
ORPHA:71493	THPO	7066	HP:0001744	Splenomegaly
ORPHA:71493	THPO	7066	HP:0004420	Arterial thrombosis
ORPHA:71493	THPO	7066	HP:0004950	Peripheral arterial stenosis
ORPHA:71493	THPO	7066	HP:0002315	Headache
ORPHA:71493	THPO	7066	HP:0002326	Transient ischemic attack
ORPHA:71493	THPO	7066	HP:0100749	Chest pain
ORPHA:71493	THPO	7066	HP:0000975	Hyperhidrosis
ORPHA:71493	THPO	7066	HP:0000989	Pruritus
ORPHA:71493	THPO	7066	HP:0001894	Thrombocytosis
ORPHA:71493	THPO	7066	HP:0004936	Venous thrombosis
OMIM:616968	MCM2	4171	HP:0003677	Slow progression
OMIM:616968	MCM2	4171	HP:0000408	Progressive sensorineural hearing impairment
OMIM:616968	MCM2	4171	HP:0000006	Autosomal dominant inheritance
OMIM:616968	MCM2	4171	HP:0003828	Variable expressivity
OMIM:216340	FIG4	9896	HP:0000518	Cataract
OMIM:216340	FIG4	9896	HP:0000028	Cryptorchidism
OMIM:216340	FIG4	9896	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:216340	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:216340	FIG4	9896	HP:0006323	Premature loss of primary teeth
OMIM:216340	FIG4	9896	HP:0011309	Tapered toe
OMIM:216340	FIG4	9896	HP:0000268	Dolichocephaly
OMIM:216340	FIG4	9896	HP:0000316	Hypertelorism
OMIM:216340	FIG4	9896	HP:0000520	Proptosis
OMIM:216340	FIG4	9896	HP:0001636	Tetralogy of Fallot
OMIM:216340	FIG4	9896	HP:0002092	Pulmonary arterial hypertension
OMIM:216340	FIG4	9896	HP:0008386	Aplasia/Hypoplasia of the nails
OMIM:216340	FIG4	9896	HP:0001770	Toe syndactyly
OMIM:216340	FIG4	9896	HP:0000252	Microcephaly
OMIM:216340	FIG4	9896	HP:0001290	Generalized hypotonia
OMIM:216340	FIG4	9896	HP:0001638	Cardiomyopathy
OMIM:216340	FIG4	9896	HP:0002021	Pyloric stenosis
OMIM:216340	FIG4	9896	HP:0009777	Absent thumb
OMIM:216340	FIG4	9896	HP:0000054	Micropenis
OMIM:216340	FIG4	9896	HP:0000463	Anteverted nares
OMIM:216340	FIG4	9896	HP:0001182	Tapered finger
OMIM:216340	FIG4	9896	HP:0002561	Absent nipple
OMIM:216340	FIG4	9896	HP:0002827	Hip dislocation
OMIM:216340	FIG4	9896	HP:0009381	Short finger
OMIM:216340	FIG4	9896	HP:0001622	Premature birth
OMIM:216340	FIG4	9896	HP:0000188	Short upper lip
OMIM:216340	FIG4	9896	HP:0001525	Severe failure to thrive
OMIM:216340	FIG4	9896	HP:0001511	Intrauterine growth retardation
OMIM:216340	FIG4	9896	HP:0001274	Agenesis of corpus callosum
OMIM:216340	FIG4	9896	HP:0000216	Broad secondary alveolar ridge
OMIM:216340	FIG4	9896	HP:0006660	Aplastic clavicles
OMIM:216340	FIG4	9896	HP:0000047	Hypospadias
OMIM:216340	FIG4	9896	HP:0000233	Thin vermilion border
OMIM:216340	FIG4	9896	HP:0000365	Hearing impairment
OMIM:216340	FIG4	9896	HP:0000535	Sparse and thin eyebrow
OMIM:216340	FIG4	9896	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:216340	FIG4	9896	HP:0002209	Sparse scalp hair
OMIM:216340	FIG4	9896	HP:0008362	Aplasia/Hypoplasia of the hallux
OMIM:216340	FIG4	9896	HP:0001629	Ventricular septal defect
OMIM:216340	FIG4	9896	HP:0000385	Small earlobe
OMIM:216340	FIG4	9896	HP:0000653	Sparse eyelashes
OMIM:216340	FIG4	9896	HP:0002139	Arrhinencephaly
OMIM:216340	FIG4	9896	HP:0000322	Short philtrum
OMIM:216340	FIG4	9896	HP:0000239	Large fontanelles
OMIM:216340	FIG4	9896	HP:0000954	Single transverse palmar crease
OMIM:216340	FIG4	9896	HP:0001789	Hydrops fetalis
OMIM:216340	FIG4	9896	HP:0000647	Sclerocornea
OMIM:216340	FIG4	9896	HP:0001302	Pachygyria
OMIM:216340	FIG4	9896	HP:0000894	Short clavicles
OMIM:216340	FIG4	9896	HP:0001831	Short toe
OMIM:216340	FIG4	9896	HP:0001561	Polyhydramnios
OMIM:216340	FIG4	9896	HP:0000369	Low-set ears
OMIM:216340	FIG4	9896	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:216340	FIG4	9896	HP:0000582	Upslanted palpebral fissure
OMIM:216340	FIG4	9896	HP:0000782	Abnormality of the scapula
OMIM:216340	FIG4	9896	HP:0011344	Severe global developmental delay
OMIM:216340	FIG4	9896	HP:0002692	Hypoplastic facial bones
OMIM:216340	FIG4	9896	HP:0000347	Micrognathia
OMIM:216340	FIG4	9896	HP:0004331	Decreased skull ossification
OMIM:216340	FIG4	9896	HP:0000464	Abnormality of the neck
OMIM:216340	FIG4	9896	HP:0006628	Absent sternal ossification
ORPHA:1229	OCLN	100506658	HP:0002120	Cerebral cortical atrophy
ORPHA:1229	OCLN	100506658	HP:0001257	Spasticity
ORPHA:1229	OCLN	100506658	HP:0002514	Cerebral calcification
ORPHA:1229	OCLN	100506658	HP:0000252	Microcephaly
ORPHA:1229	OCLN	100506658	HP:0100022	Abnormality of movement
ORPHA:1229	OCLN	100506658	HP:0001347	Hyperreflexia
ORPHA:1229	OCLN	100506658	HP:0001250	Seizures
OMIM:236500	CEP55	55165	HP:0004691	2-3 toe syndactyly
OMIM:236500	CEP55	55165	HP:0000110	Renal dysplasia
OMIM:236500	CEP55	55165	HP:0000089	Renal hypoplasia
OMIM:236500	CEP55	55165	HP:0000104	Renal agenesis
OMIM:236500	CEP55	55165	HP:0002324	Hydranencephaly
OMIM:236500	CEP55	55165	HP:0000007	Autosomal recessive inheritance
ORPHA:86788	WAS	7454	HP:0002718	Recurrent bacterial infections
ORPHA:86788	WAS	7454	HP:0012312	Monocytopenia
ORPHA:86788	WAS	7454	HP:0001875	Neutropenia
OMIM:180920	FGF10	2255	HP:0001092	Absent lacrimal punctum
OMIM:180920	FGF10	2255	HP:0007656	Lacrimal gland aplasia
OMIM:180920	FGF10	2255	HP:0000217	Xerostomia
OMIM:180920	FGF10	2255	HP:0000670	Carious teeth
OMIM:180920	FGF10	2255	HP:0007732	Lacrimal gland hypoplasia
OMIM:180920	FGF10	2255	HP:0000006	Autosomal dominant inheritance
OMIM:166200	COL1A1	1277	HP:0001382	Joint hypermobility
OMIM:166200	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166200	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166200	COL1A1	1277	HP:0003321	Biconcave flattened vertebrae
OMIM:166200	COL1A1	1277	HP:0001507	Growth abnormality
OMIM:166200	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166200	COL1A1	1277	HP:0000963	Thin skin
OMIM:166200	COL1A1	1277	HP:0001634	Mitral valve prolapse
OMIM:166200	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:166200	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:166200	COL1A1	1277	HP:0002980	Femoral bowing
OMIM:166200	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:166200	COL1A1	1277	HP:0001724	Aortic dilatation
OMIM:166200	COL1A1	1277	HP:0000362	Otosclerosis
OMIM:166200	COL1A1	1277	HP:0000938	Osteopenia
OMIM:166200	COL1A1	1277	HP:0002645	Wormian bones
OMIM:607016	IDUA	3425	HP:0000283	Broad face
OMIM:607016	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607016	IDUA	3425	HP:0001659	Aortic regurgitation
OMIM:607016	IDUA	3425	HP:0000303	Mandibular prognathia
OMIM:607016	IDUA	3425	HP:0012185	Constrictive median neuropathy
OMIM:607016	IDUA	3425	HP:0007957	Corneal opacity
OMIM:607016	IDUA	3425	HP:0000470	Short neck
OMIM:607016	IDUA	3425	HP:0002870	Obstructive sleep apnea
OMIM:607016	IDUA	3425	HP:0000445	Wide nose
OMIM:607016	IDUA	3425	HP:0001761	Pes cavus
OMIM:607016	IDUA	3425	HP:0002857	Genu valgum
OMIM:607016	IDUA	3425	HP:0000293	Full cheeks
OMIM:607016	IDUA	3425	HP:0001650	Aortic valve stenosis
OMIM:607016	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:610984	CFI	3426	HP:0001581	Recurrent skin infections
OMIM:610984	CFI	3426	HP:0005416	Decreased serum complement factor B
OMIM:610984	CFI	3426	HP:0002633	Vasculitis
OMIM:610984	CFI	3426	HP:0005369	Decreased serum complement factor H
OMIM:610984	CFI	3426	HP:0011108	Recurrent sinusitis
OMIM:610984	CFI	3426	HP:0000007	Autosomal recessive inheritance
OMIM:610984	CFI	3426	HP:0000010	Recurrent urinary tract infections
OMIM:610984	CFI	3426	HP:0005381	Recurrent meningococcal disease
OMIM:610984	CFI	3426	HP:0005421	Decreased serum complement C3
OMIM:610984	CFI	3426	HP:0006946	Recurrent meningitis
OMIM:610984	CFI	3426	HP:0003621	Juvenile onset
OMIM:610984	CFI	3426	HP:0000083	Renal insufficiency
OMIM:610984	CFI	3426	HP:0012330	Pyelonephritis
OMIM:610984	CFI	3426	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:610984	CFI	3426	HP:0005376	Recurrent Haemophilus influenzae infections
OMIM:610984	CFI	3426	HP:0001369	Arthritis
OMIM:610984	CFI	3426	HP:0000403	Recurrent otitis media
OMIM:610984	CFI	3426	HP:0000099	Glomerulonephritis
OMIM:610984	CFI	3426	HP:0005356	Decreased serum complement factor I
OMIM:194070	WT1	7490	HP:0001428	Somatic mutation
OMIM:194070	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194070	WT1	7490	HP:0002667	Nephroblastoma
OMIM:194070	WT1	7490	HP:0001425	Heterogeneous
OMIM:194070	BRCA2	675	HP:0001428	Somatic mutation
OMIM:194070	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:194070	BRCA2	675	HP:0002667	Nephroblastoma
OMIM:194070	BRCA2	675	HP:0001425	Heterogeneous
OMIM:194070	H19	283120	HP:0001428	Somatic mutation
OMIM:194070	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:194070	H19	283120	HP:0002667	Nephroblastoma
OMIM:194070	H19	283120	HP:0001425	Heterogeneous
OMIM:194070	IGF2	3481	HP:0001428	Somatic mutation
OMIM:194070	IGF2	3481	HP:0000006	Autosomal dominant inheritance
OMIM:194070	IGF2	3481	HP:0002667	Nephroblastoma
OMIM:194070	IGF2	3481	HP:0001425	Heterogeneous
OMIM:194070	GPC4	2239	HP:0001428	Somatic mutation
OMIM:194070	GPC4	2239	HP:0000006	Autosomal dominant inheritance
OMIM:194070	GPC4	2239	HP:0002667	Nephroblastoma
OMIM:194070	GPC4	2239	HP:0001425	Heterogeneous
OMIM:194070	GPC3	2719	HP:0001428	Somatic mutation
OMIM:194070	GPC3	2719	HP:0000006	Autosomal dominant inheritance
OMIM:194070	GPC3	2719	HP:0002667	Nephroblastoma
OMIM:194070	GPC3	2719	HP:0001425	Heterogeneous
OMIM:611876	CACNB2	783	HP:0005110	Atrial fibrillation
OMIM:611876	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:611876	CACNB2	783	HP:0001279	Syncope
OMIM:611876	CACNB2	783	HP:0012232	Shortened QT interval
OMIM:603471	SLC25A13	10165	HP:0002181	Cerebral edema
OMIM:603471	SLC25A13	10165	HP:0001259	Coma
OMIM:603471	SLC25A13	10165	HP:0001289	Confusion
OMIM:603471	SLC25A13	10165	HP:0001397	Hepatic steatosis
OMIM:603471	SLC25A13	10165	HP:0000007	Autosomal recessive inheritance
OMIM:603471	SLC25A13	10165	HP:0001987	Hyperammonemia
OMIM:603471	SLC25A13	10165	HP:0001402	Hepatocellular carcinoma
OMIM:603471	SLC25A13	10165	HP:0002910	Elevated hepatic transaminases
OMIM:603471	SLC25A13	10165	HP:0002155	Hypertriglyceridemia
OMIM:603471	SLC25A13	10165	HP:0001733	Pancreatitis
ORPHA:168796	LMNA	4000	HP:0001760	Abnormality of the foot
ORPHA:168796	LMNA	4000	HP:0005150	Abnormal atrioventricular conduction
ORPHA:168796	LMNA	4000	HP:0001644	Dilated cardiomyopathy
ORPHA:168796	LMNA	4000	HP:0005115	Supraventricular arrhythmia
ORPHA:168796	LMNA	4000	HP:0011702	Abnormal electrophysiology of sinoatrial node origin
ORPHA:87	FGFR2	2263	HP:0000405	Conductive hearing impairment
ORPHA:87	FGFR2	2263	HP:0001249	Intellectual disability
ORPHA:87	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:87	FGFR2	2263	HP:0011304	Broad thumb
ORPHA:87	FGFR2	2263	HP:0002007	Frontal bossing
ORPHA:87	FGFR2	2263	HP:0001331	Absent septum pellucidum
ORPHA:87	FGFR2	2263	HP:0000189	Narrow palate
ORPHA:87	FGFR2	2263	HP:0000244	Brachyturricephaly
ORPHA:87	FGFR2	2263	HP:0000303	Mandibular prognathia
ORPHA:87	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHA:87	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:87	FGFR2	2263	HP:0000520	Proptosis
ORPHA:87	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:87	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:87	FGFR2	2263	HP:0000337	Broad forehead
ORPHA:87	FGFR2	2263	HP:0001274	Agenesis of corpus callosum
ORPHA:87	FGFR2	2263	HP:0004635	Cervical C5/C6 vertebrae fusion
ORPHA:87	FGFR2	2263	HP:0000486	Strabismus
ORPHA:87	FGFR2	2263	HP:0004487	Acrobrachycephaly
ORPHA:87	FGFR2	2263	HP:0000822	Hypertension
ORPHA:87	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHA:87	FGFR2	2263	HP:0000239	Large fontanelles
ORPHA:87	FGFR2	2263	HP:0008872	Feeding difficulties in infancy
ORPHA:87	FGFR2	2263	HP:0011380	Morphological abnormality of the semicircular canal
ORPHA:87	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
ORPHA:87	FGFR2	2263	HP:0012368	Flat face
ORPHA:87	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
ORPHA:87	FGFR2	2263	HP:0000684	Delayed eruption of teeth
ORPHA:87	FGFR2	2263	HP:0000324	Facial asymmetry
ORPHA:87	FGFR2	2263	HP:0000444	Convex nasal ridge
ORPHA:90153	LMNA	4000	HP:0001376	Limitation of joint mobility
ORPHA:90153	LMNA	4000	HP:0004322	Short stature
ORPHA:90153	LMNA	4000	HP:0000963	Thin skin
ORPHA:90153	LMNA	4000	HP:0005328	Progeroid facial appearance
ORPHA:90153	LMNA	4000	HP:0004334	Dermal atrophy
ORPHA:90153	LMNA	4000	HP:0000520	Proptosis
ORPHA:90153	LMNA	4000	HP:0009839	Osteolytic defects of the distal phalanges of the hand
ORPHA:90153	LMNA	4000	HP:0000534	Abnormality of the eyebrow
ORPHA:90153	LMNA	4000	HP:0000855	Insulin resistance
ORPHA:90153	LMNA	4000	HP:0001870	Acroosteolysis of distal phalanges (feet)
ORPHA:90153	LMNA	4000	HP:0002645	Wormian bones
ORPHA:90153	LMNA	4000	HP:0001596	Alopecia
ORPHA:90153	LMNA	4000	HP:0006710	Aplasia/Hypoplasia of the clavicles
ORPHA:90153	LMNA	4000	HP:0000239	Large fontanelles
ORPHA:90153	LMNA	4000	HP:0003077	Hyperlipidemia
ORPHA:90153	LMNA	4000	HP:0009882	Short distal phalanx of finger
ORPHA:1300	IRF6	3664	HP:0000219	Thin upper lip vermilion
ORPHA:1300	IRF6	3664	HP:0009754	Fibrous syngnathia
ORPHA:1300	IRF6	3664	HP:0001597	Abnormality of the nail
ORPHA:1300	IRF6	3664	HP:0000772	Abnormality of the ribs
ORPHA:1300	IRF6	3664	HP:0000046	Scrotal hypoplasia
ORPHA:1300	IRF6	3664	HP:0009755	Ankyloblepharon
ORPHA:1300	IRF6	3664	HP:0000059	Hypoplastic labia majora
ORPHA:1300	IRF6	3664	HP:0001770	Toe syndactyly
ORPHA:1300	IRF6	3664	HP:0006101	Finger syndactyly
ORPHA:1300	IRF6	3664	HP:0000175	Cleft palate
ORPHA:1300	IRF6	3664	HP:0002230	Generalized hirsutism
ORPHA:1300	IRF6	3664	HP:0000028	Cryptorchidism
ORPHA:1300	IRF6	3664	HP:0100267	Lip pit
ORPHA:1300	IRF6	3664	HP:0009756	Popliteal pterygium
ORPHA:1300	IRF6	3664	HP:0100335	Non-midline cleft lip
ORPHA:1300	IRF6	3664	HP:0008288	Nonketotic hyperglycinemia
ORPHA:1300	IRF6	3664	HP:0000048	Bifid scrotum
ORPHA:1300	IRF6	3664	HP:0000347	Micrognathia
ORPHA:1300	IRF6	3664	HP:0002650	Scoliosis
ORPHA:1300	IRF6	3664	HP:0001387	Joint stiffness
OMIM:608805	COL2A1	1280	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:608805	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:616724	LRP6	4040	HP:0006349	Agenesis of permanent teeth
OMIM:616724	LRP6	4040	HP:0000006	Autosomal dominant inheritance
OMIM:130720	NOTCH3	4854	HP:0000316	Hypertelorism
OMIM:130720	NOTCH3	4854	HP:0001643	Patent ductus arteriosus
OMIM:130720	NOTCH3	4854	HP:0002694	Sclerosis of skull base
OMIM:130720	NOTCH3	4854	HP:0002691	Platybasia
OMIM:130720	NOTCH3	4854	HP:0001547	Abnormality of the rib cage
OMIM:130720	NOTCH3	4854	HP:0000470	Short neck
OMIM:130720	NOTCH3	4854	HP:0002808	Kyphosis
OMIM:130720	NOTCH3	4854	HP:0000358	Posteriorly rotated ears
OMIM:130720	NOTCH3	4854	HP:0000767	Pectus excavatum
OMIM:130720	NOTCH3	4854	HP:0001290	Generalized hypotonia
OMIM:130720	NOTCH3	4854	HP:0000268	Dolichocephaly
OMIM:130720	NOTCH3	4854	HP:0002645	Wormian bones
OMIM:130720	NOTCH3	4854	HP:0004322	Short stature
OMIM:130720	NOTCH3	4854	HP:0000272	Malar flattening
OMIM:130720	NOTCH3	4854	HP:0100702	Arachnoid cyst
OMIM:130720	NOTCH3	4854	HP:0000347	Micrognathia
OMIM:130720	NOTCH3	4854	HP:0000405	Conductive hearing impairment
OMIM:130720	NOTCH3	4854	HP:0002948	Vertebral fusion
OMIM:130720	NOTCH3	4854	HP:0000319	Smooth philtrum
OMIM:130720	NOTCH3	4854	HP:0000343	Long philtrum
OMIM:130720	NOTCH3	4854	HP:0001537	Umbilical hernia
OMIM:130720	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:130720	NOTCH3	4854	HP:0003194	Short nasal bridge
OMIM:130720	NOTCH3	4854	HP:0001270	Motor delay
OMIM:130720	NOTCH3	4854	HP:0003396	Syringomyelia
OMIM:130720	NOTCH3	4854	HP:0100775	Dural ectasia
OMIM:130720	NOTCH3	4854	HP:0000023	Inguinal hernia
OMIM:130720	NOTCH3	4854	HP:0002650	Scoliosis
OMIM:130720	NOTCH3	4854	HP:0000508	Ptosis
OMIM:130720	NOTCH3	4854	HP:0000951	Abnormality of the skin
OMIM:130720	NOTCH3	4854	HP:0004452	Abnormality of the middle ear ossicles
OMIM:130720	NOTCH3	4854	HP:0001382	Joint hypermobility
OMIM:130720	NOTCH3	4854	HP:0000369	Low-set ears
OMIM:130720	NOTCH3	4854	HP:0004586	Biconcave vertebral bodies
OMIM:130720	NOTCH3	4854	HP:0000494	Downslanted palpebral fissures
OMIM:130720	NOTCH3	4854	HP:0002208	Coarse hair
OMIM:130720	NOTCH3	4854	HP:0002435	Meningocele
OMIM:130720	NOTCH3	4854	HP:0007099	Arnold-Chiari type I malformation
OMIM:130720	NOTCH3	4854	HP:0000028	Cryptorchidism
OMIM:130720	NOTCH3	4854	HP:0000218	High palate
OMIM:130720	NOTCH3	4854	HP:0000678	Dental crowding
OMIM:601820	KCNJ11	3767	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:601820	KCNJ11	3767	HP:0001425	Heterogeneous
OMIM:601820	KCNJ11	3767	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:601820	KCNJ11	3767	HP:0001520	Large for gestational age
OMIM:601820	KCNJ11	3767	HP:0000007	Autosomal recessive inheritance
OMIM:601820	KCNJ11	3767	HP:0001943	Hypoglycemia
OMIM:601678	SLC12A1	6557	HP:0003324	Generalized muscle weakness
OMIM:601678	SLC12A1	6557	HP:0003527	Hyperprostaglandinuria
OMIM:601678	SLC12A1	6557	HP:0001263	Global developmental delay
OMIM:601678	SLC12A1	6557	HP:0003394	Muscle cramps
OMIM:601678	SLC12A1	6557	HP:0003113	Hypochloremia
OMIM:601678	SLC12A1	6557	HP:0001425	Heterogeneous
OMIM:601678	SLC12A1	6557	HP:0000848	Increased circulating renin level
OMIM:601678	SLC12A1	6557	HP:0002900	Hypokalemia
OMIM:601678	SLC12A1	6557	HP:0000841	Hyperactive renin-angiotensin system
OMIM:601678	SLC12A1	6557	HP:0003081	Increased urinary potassium
OMIM:601678	SLC12A1	6557	HP:0003566	Increased serum prostaglandin E2
OMIM:601678	SLC12A1	6557	HP:0000127	Renal salt wasting
OMIM:601678	SLC12A1	6557	HP:0000859	Hyperaldosteronism
OMIM:601678	SLC12A1	6557	HP:0000934	Chondrocalcinosis
OMIM:601678	SLC12A1	6557	HP:0002019	Constipation
OMIM:601678	SLC12A1	6557	HP:0003401	Paresthesia
OMIM:601678	SLC12A1	6557	HP:0001250	Seizures
OMIM:601678	SLC12A1	6557	HP:0003158	Hyposthenuria
OMIM:601678	SLC12A1	6557	HP:0002013	Vomiting
OMIM:601678	SLC12A1	6557	HP:0002917	Hypomagnesemia
OMIM:601678	SLC12A1	6557	HP:0001945	Fever
OMIM:601678	SLC12A1	6557	HP:0004322	Short stature
OMIM:601678	SLC12A1	6557	HP:0001518	Small for gestational age
OMIM:601678	SLC12A1	6557	HP:0001960	Hypokalemic metabolic alkalosis
OMIM:601678	SLC12A1	6557	HP:0002150	Hypercalciuria
OMIM:601678	SLC12A1	6557	HP:0002014	Diarrhea
OMIM:601678	SLC12A1	6557	HP:0000007	Autosomal recessive inheritance
OMIM:601678	SLC12A1	6557	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia
OMIM:601678	SLC12A1	6557	HP:0001508	Failure to thrive
OMIM:601678	SLC12A1	6557	HP:0003072	Hypercalcemia
OMIM:601678	SLC12A1	6557	HP:0000103	Polyuria
OMIM:601678	SLC12A1	6557	HP:0000121	Nephrocalcinosis
OMIM:601678	SLC12A1	6557	HP:0001561	Polyhydramnios
OMIM:601678	SLC12A1	6557	HP:0001944	Dehydration
OMIM:601678	SLC12A1	6557	HP:0002914	Hyperchloriduria
OMIM:601678	SLC12A1	6557	HP:0000938	Osteopenia
OMIM:601678	SLC12A1	6557	HP:0001281	Tetany
OMIM:601678	SLC12A1	6557	HP:0002632	Low-to-normal blood pressure
OMIM:601678	SLC12A1	6557	HP:0001249	Intellectual disability
OMIM:601678	SLC12A1	6557	HP:0000128	Renal potassium wasting
OMIM:601678	SLC12A1	6557	HP:0001563	Fetal polyuria
OMIM:601678	SLC12A1	6557	HP:0001622	Premature birth
OMIM:605637	MYH2	4620	HP:0000467	Neck muscle weakness
OMIM:605637	MYH2	4620	HP:0002803	Congenital contracture
OMIM:605637	MYH2	4620	HP:0002058	Myopathic facies
OMIM:605637	MYH2	4620	HP:0003324	Generalized muscle weakness
OMIM:605637	MYH2	4620	HP:0000007	Autosomal recessive inheritance
OMIM:605637	MYH2	4620	HP:0000218	High palate
OMIM:605637	MYH2	4620	HP:0000006	Autosomal dominant inheritance
OMIM:605637	MYH2	4620	HP:0100299	Muscle fiber inclusion bodies
OMIM:605637	MYH2	4620	HP:0003198	Myopathy
OMIM:605637	MYH2	4620	HP:0003701	Proximal muscle weakness
OMIM:605637	MYH2	4620	HP:0003828	Variable expressivity
OMIM:187600	FGFR3	2261	HP:0001561	Polyhydramnios
OMIM:187600	FGFR3	2261	HP:0000910	Wide-cupped costochondral junctions
OMIM:187600	FGFR3	2261	HP:0004565	Severe platyspondyly
OMIM:187600	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:187600	FGFR3	2261	HP:0006584	Small abnormally formed scapulae
OMIM:187600	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:187600	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:187600	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:187600	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:187600	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:187600	FGFR3	2261	HP:0002093	Respiratory insufficiency
OMIM:187600	FGFR3	2261	HP:0003811	Neonatal death
OMIM:187600	FGFR3	2261	HP:0003185	Short sacroiliac notch
OMIM:187600	FGFR3	2261	HP:0003510	Severe short stature
OMIM:187600	FGFR3	2261	HP:0002282	Heterotopia
OMIM:187600	FGFR3	2261	HP:0000274	Small face
OMIM:187600	FGFR3	2261	HP:0003025	Metaphyseal irregularity
OMIM:187600	FGFR3	2261	HP:0001252	Muscular hypotonia
OMIM:187600	FGFR3	2261	HP:0008909	Lethal short-limbed short stature
OMIM:187600	FGFR3	2261	HP:0002676	Cloverleaf skull
OMIM:187600	FGFR3	2261	HP:0006487	Bowing of the long bones
OMIM:187600	FGFR3	2261	HP:0000773	Short ribs
OMIM:187600	FGFR3	2261	HP:0000774	Narrow chest
OMIM:187600	FGFR3	2261	HP:0001558	Decreased fetal movement
OMIM:187600	FGFR3	2261	HP:0003026	Short long bone
OMIM:187600	FGFR3	2261	HP:0002187	Intellectual disability, profound
OMIM:187600	FGFR3	2261	HP:0000946	Hypoplastic ilia
OMIM:187600	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:121800	UBIAD1	29914	HP:0007760	Crystalline corneal dystrophy
OMIM:121800	UBIAD1	29914	HP:0000006	Autosomal dominant inheritance
OMIM:121800	UBIAD1	29914	HP:0001131	Corneal dystrophy
OMIM:225753	TSEN54	283989	HP:0002803	Congenital contracture
OMIM:225753	TSEN54	283989	HP:0012110	Hypoplasia of the pons
OMIM:225753	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:225753	TSEN54	283989	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225753	TSEN54	283989	HP:0002171	Gliosis
OMIM:225753	TSEN54	283989	HP:0001257	Spasticity
OMIM:225753	TSEN54	283989	HP:0000252	Microcephaly
OMIM:225753	TSEN54	283989	HP:0011344	Severe global developmental delay
OMIM:225753	TSEN54	283989	HP:0001336	Myoclonus
OMIM:225753	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:225753	TSEN54	283989	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
OMIM:225753	TSEN54	283989	HP:0001522	Death in infancy
OMIM:225753	TSEN54	283989	HP:0003577	Congenital onset
OMIM:225753	TSEN54	283989	HP:0007105	Infantile encephalopathy
OMIM:225753	TSEN54	283989	HP:0001250	Seizures
OMIM:225753	TSEN54	283989	HP:0001561	Polyhydramnios
OMIM:225753	TSEN54	283989	HP:0002365	Hypoplasia of the brainstem
OMIM:606785	UGT1A1	54658	HP:0000952	Jaundice
OMIM:606785	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:606785	UGT1A1	54658	HP:0008282	Unconjugated hyperbilirubinemia
OMIM:609432	BHLHA9	727857	HP:0000007	Autosomal recessive inheritance
OMIM:609432	BHLHA9	727857	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:609432	BHLHA9	727857	HP:0010064	Symphalangism affecting the phalanges of the hallux
OMIM:609432	BHLHA9	727857	HP:0000954	Single transverse palmar crease
OMIM:609432	BHLHA9	727857	HP:0006097	3-4 finger syndactyly
OMIM:609432	BHLHA9	727857	HP:0008362	Aplasia/Hypoplasia of the hallux
OMIM:609432	BHLHA9	727857	HP:0009177	Proximal/middle symphalangism of 5th finger
OMIM:609432	BHLHA9	727857	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:609432	BHLHA9	727857	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:609432	BHLHA9	727857	HP:0004209	Clinodactyly of the 5th finger
OMIM:614557	FKBP14	55033	HP:0003812	Phenotypic variability
OMIM:614557	FKBP14	55033	HP:0007502	Follicular hyperkeratosis
OMIM:614557	FKBP14	55033	HP:0003202	Skeletal muscle atrophy
OMIM:614557	FKBP14	55033	HP:0000007	Autosomal recessive inheritance
OMIM:614557	FKBP14	55033	HP:0003198	Myopathy
OMIM:614557	FKBP14	55033	HP:0000974	Hyperextensible skin
OMIM:614557	FKBP14	55033	HP:0000938	Osteopenia
OMIM:614557	FKBP14	55033	HP:0001757	High-frequency sensorineural hearing impairment
OMIM:614557	FKBP14	55033	HP:0002421	Poor head control
OMIM:614557	FKBP14	55033	HP:0002751	Kyphoscoliosis
OMIM:614557	FKBP14	55033	HP:0001763	Pes planus
OMIM:614557	FKBP14	55033	HP:0000977	Soft skin
OMIM:614557	FKBP14	55033	HP:0001252	Muscular hypotonia
OMIM:614557	FKBP14	55033	HP:0001270	Motor delay
OMIM:614557	FKBP14	55033	HP:0000545	Myopia
OMIM:301220	POLA1	5422	HP:0000962	Hyperkeratosis
OMIM:301220	POLA1	5422	HP:0001531	Failure to thrive in infancy
OMIM:301220	POLA1	5422	HP:0000613	Photophobia
OMIM:301220	POLA1	5422	HP:0011229	Broad eyebrow
OMIM:301220	POLA1	5422	HP:0012227	Urethral stricture
OMIM:301220	POLA1	5422	HP:0001419	X-linked recessive inheritance
OMIM:301220	POLA1	5422	HP:0001263	Global developmental delay
OMIM:301220	POLA1	5422	HP:0001250	Seizures
OMIM:301220	POLA1	5422	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301220	POLA1	5422	HP:0007599	Generalized reticulate brown pigmentation
OMIM:301220	POLA1	5422	HP:0007759	Opacification of the corneal stroma
OMIM:301220	POLA1	5422	HP:0002301	Hemiplegia
OMIM:301220	POLA1	5422	HP:0006532	Recurrent pneumonia
OMIM:301220	POLA1	5422	HP:0011034	Amyloidosis
OMIM:301220	POLA1	5422	HP:0002014	Diarrhea
OMIM:301220	POLA1	5422	HP:0002583	Colitis
OMIM:301220	POLA1	5422	HP:0000572	Visual loss
OMIM:301220	POLA1	5422	HP:0000966	Hypohidrosis
OMIM:301220	POLA1	5422	HP:0000559	Corneal scarring
OMIM:301220	POLA1	5422	HP:0000023	Inguinal hernia
OMIM:301220	POLA1	5422	HP:0004798	Recurrent infection of the gastrointestinal tract
OMIM:301220	POLA1	5422	HP:0000505	Visual impairment
OMIM:143400	TBX18	9096	HP:0030157	Flank pain
OMIM:143400	TBX18	9096	HP:0003812	Phenotypic variability
OMIM:143400	TBX18	9096	HP:0000110	Renal dysplasia
OMIM:143400	TBX18	9096	HP:0000074	Ureteropelvic junction obstruction
OMIM:143400	TBX18	9096	HP:0000100	Nephrotic syndrome
OMIM:143400	TBX18	9096	HP:0008676	Congenital megaureter
OMIM:143400	TBX18	9096	HP:0000072	Hydroureter
OMIM:143400	TBX18	9096	HP:0000089	Renal hypoplasia
OMIM:143400	TBX18	9096	HP:0000006	Autosomal dominant inheritance
OMIM:143400	TBX18	9096	HP:0000003	Multicystic kidney dysplasia
OMIM:143400	TBX18	9096	HP:0000800	Cystic renal dysplasia
OMIM:143400	TBX18	9096	HP:0000126	Hydronephrosis
OMIM:143400	TBX18	9096	HP:0008663	Renal sarcoma
OMIM:615235	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:615235	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:309801	HCCS	3052	HP:0005152	Histiocytoid cardiomyopathy
OMIM:309801	HCCS	3052	HP:0001629	Ventricular septal defect
OMIM:309801	HCCS	3052	HP:0001631	Atrial septal defect
OMIM:309801	HCCS	3052	HP:0030048	Colpocephaly
OMIM:309801	HCCS	3052	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309801	HCCS	3052	HP:0012861	Ovotestis
OMIM:309801	HCCS	3052	HP:0000647	Sclerocornea
OMIM:309801	HCCS	3052	HP:0007398	Asymmetric, linear skin defects
OMIM:309801	HCCS	3052	HP:0000041	Chordee
OMIM:309801	HCCS	3052	HP:0000054	Micropenis
OMIM:309801	HCCS	3052	HP:0002623	Overriding aorta
OMIM:309801	HCCS	3052	HP:0000568	Microphthalmia
OMIM:309801	HCCS	3052	HP:0002023	Anal atresia
OMIM:309801	HCCS	3052	HP:0000252	Microcephaly
OMIM:309801	HCCS	3052	HP:0001545	Anteriorly placed anus
OMIM:309801	HCCS	3052	HP:0001274	Agenesis of corpus callosum
OMIM:309801	HCCS	3052	HP:0000518	Cataract
OMIM:309801	HCCS	3052	HP:0000580	Pigmentary retinopathy
OMIM:309801	HCCS	3052	HP:0008665	Clitoral hypertrophy
OMIM:309801	HCCS	3052	HP:0000612	Iris coloboma
OMIM:309801	HCCS	3052	HP:0000238	Hydrocephalus
OMIM:309801	HCCS	3052	HP:0000776	Congenital diaphragmatic hernia
OMIM:309801	HCCS	3052	HP:0011675	Arrhythmia
OMIM:309801	HCCS	3052	HP:0001423	X-linked dominant inheritance
OMIM:309801	HCCS	3052	HP:0001331	Absent septum pellucidum
OMIM:309801	HCCS	3052	HP:0001250	Seizures
OMIM:309801	HCCS	3052	HP:0000013	Hypoplasia of the uterus
OMIM:309801	HCCS	3052	HP:0000047	Hypospadias
OMIM:309801	HCCS	3052	HP:0000365	Hearing impairment
OMIM:309801	HCCS	3052	HP:0004322	Short stature
OMIM:616859	GLRX5	51218	HP:0002415	Leukodystrophy
OMIM:616859	GLRX5	51218	HP:0001347	Hyperreflexia
OMIM:616859	GLRX5	51218	HP:0001264	Spastic diplegia
OMIM:616859	GLRX5	51218	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
OMIM:616859	GLRX5	51218	HP:0001250	Seizures
OMIM:616859	GLRX5	51218	HP:0000648	Optic atrophy
OMIM:616859	GLRX5	51218	HP:0002497	Spastic ataxia
OMIM:616859	GLRX5	51218	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616859	GLRX5	51218	HP:0000007	Autosomal recessive inheritance
OMIM:616859	GLRX5	51218	HP:0001260	Dysarthria
OMIM:616859	GLRX5	51218	HP:0000486	Strabismus
OMIM:616859	GLRX5	51218	HP:0003487	Babinski sign
OMIM:616859	GLRX5	51218	HP:0000639	Nystagmus
OMIM:616859	GLRX5	51218	HP:0002154	Hyperglycinemia
OMIM:616859	GLRX5	51218	HP:0000505	Visual impairment
OMIM:616859	GLRX5	51218	HP:0001288	Gait disturbance
OMIM:614653	DST	667	HP:0001188	Hand clenching
OMIM:614653	DST	667	HP:0001319	Neonatal hypotonia
OMIM:614653	DST	667	HP:0001662	Bradycardia
OMIM:614653	DST	667	HP:0001284	Areflexia
OMIM:614653	DST	667	HP:0003093	Limited hip extension
OMIM:614653	DST	667	HP:0001762	Talipes equinovarus
OMIM:614653	DST	667	HP:0001945	Fever
OMIM:614653	DST	667	HP:0000007	Autosomal recessive inheritance
OMIM:614653	DST	667	HP:0007610	Blotching pigmentation of the skin
OMIM:614653	DST	667	HP:0001649	Tachycardia
OMIM:614653	DST	667	HP:0002093	Respiratory insufficiency
OMIM:614653	DST	667	HP:0000763	Sensory neuropathy
OMIM:614653	DST	667	HP:0011968	Feeding difficulties
OMIM:614653	DST	667	HP:0000194	Open mouth
OMIM:614653	DST	667	HP:0000522	Alacrima
OMIM:614653	DST	667	HP:0001510	Growth delay
OMIM:614653	DST	667	HP:0002104	Apnea
OMIM:614653	DST	667	HP:0000975	Hyperhidrosis
OMIM:614653	DST	667	HP:0001371	Flexion contracture
OMIM:614653	DST	667	HP:0000559	Corneal scarring
ORPHA:231183	CEP78	84131	HP:0001756	Vestibular hypofunction
ORPHA:231183	CEP78	84131	HP:0000575	Scotoma
ORPHA:231183	CEP78	84131	HP:0000518	Cataract
ORPHA:231183	CEP78	84131	HP:0000407	Sensorineural hearing impairment
ORPHA:231183	CEP78	84131	HP:0000572	Visual loss
ORPHA:231183	CEP78	84131	HP:0007730	Iris hypopigmentation
ORPHA:231183	CEP78	84131	HP:0000375	Abnormality of cochlea
ORPHA:231183	CEP78	84131	HP:0001251	Ataxia
ORPHA:231183	CEP78	84131	HP:0008499	High-grade hypermetropia
ORPHA:231183	CEP78	84131	HP:0000512	Abnormal electroretinogram
ORPHA:231183	CEP78	84131	HP:0012377	Hemianopia
ORPHA:231183	CEP78	84131	HP:0000662	Nyctalopia
ORPHA:231183	CEP78	84131	HP:0000483	Astigmatism
ORPHA:231183	CLRN1	7401	HP:0001756	Vestibular hypofunction
ORPHA:231183	CLRN1	7401	HP:0000575	Scotoma
ORPHA:231183	CLRN1	7401	HP:0000518	Cataract
ORPHA:231183	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
ORPHA:231183	CLRN1	7401	HP:0000572	Visual loss
ORPHA:231183	CLRN1	7401	HP:0007730	Iris hypopigmentation
ORPHA:231183	CLRN1	7401	HP:0000375	Abnormality of cochlea
ORPHA:231183	CLRN1	7401	HP:0001251	Ataxia
ORPHA:231183	CLRN1	7401	HP:0008499	High-grade hypermetropia
ORPHA:231183	CLRN1	7401	HP:0000512	Abnormal electroretinogram
ORPHA:231183	CLRN1	7401	HP:0012377	Hemianopia
ORPHA:231183	CLRN1	7401	HP:0000662	Nyctalopia
ORPHA:231183	CLRN1	7401	HP:0000483	Astigmatism
ORPHA:231183	HARS	3035	HP:0001756	Vestibular hypofunction
ORPHA:231183	HARS	3035	HP:0000575	Scotoma
ORPHA:231183	HARS	3035	HP:0000518	Cataract
ORPHA:231183	HARS	3035	HP:0000407	Sensorineural hearing impairment
ORPHA:231183	HARS	3035	HP:0000572	Visual loss
ORPHA:231183	HARS	3035	HP:0007730	Iris hypopigmentation
ORPHA:231183	HARS	3035	HP:0000375	Abnormality of cochlea
ORPHA:231183	HARS	3035	HP:0001251	Ataxia
ORPHA:231183	HARS	3035	HP:0008499	High-grade hypermetropia
ORPHA:231183	HARS	3035	HP:0000512	Abnormal electroretinogram
ORPHA:231183	HARS	3035	HP:0012377	Hemianopia
ORPHA:231183	HARS	3035	HP:0000662	Nyctalopia
ORPHA:231183	HARS	3035	HP:0000483	Astigmatism
ORPHA:231183	TRNS2	4575	HP:0001756	Vestibular hypofunction
ORPHA:231183	TRNS2	4575	HP:0000575	Scotoma
ORPHA:231183	TRNS2	4575	HP:0000518	Cataract
ORPHA:231183	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
ORPHA:231183	TRNS2	4575	HP:0000572	Visual loss
ORPHA:231183	TRNS2	4575	HP:0007730	Iris hypopigmentation
ORPHA:231183	TRNS2	4575	HP:0000375	Abnormality of cochlea
ORPHA:231183	TRNS2	4575	HP:0001251	Ataxia
ORPHA:231183	TRNS2	4575	HP:0008499	High-grade hypermetropia
ORPHA:231183	TRNS2	4575	HP:0000512	Abnormal electroretinogram
ORPHA:231183	TRNS2	4575	HP:0012377	Hemianopia
ORPHA:231183	TRNS2	4575	HP:0000662	Nyctalopia
ORPHA:231183	TRNS2	4575	HP:0000483	Astigmatism
OMIM:600977	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	PITPNM3	83394	HP:0000613	Photophobia
OMIM:600977	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:600977	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:600977	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:600977	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:612016	COQ8A	56997	HP:0001251	Ataxia
OMIM:612016	COQ8A	56997	HP:0001290	Generalized hypotonia
OMIM:612016	COQ8A	56997	HP:0012240	Increased intramyocellular lipid droplets
OMIM:612016	COQ8A	56997	HP:0001250	Seizures
OMIM:612016	COQ8A	56997	HP:0003828	Variable expressivity
OMIM:612016	COQ8A	56997	HP:0003128	Lactic acidosis
OMIM:612016	COQ8A	56997	HP:0001347	Hyperreflexia
OMIM:612016	COQ8A	56997	HP:0000007	Autosomal recessive inheritance
OMIM:612016	COQ8A	56997	HP:0003701	Proximal muscle weakness
OMIM:612016	COQ8A	56997	HP:0001272	Cerebellar atrophy
OMIM:612016	COQ8A	56997	HP:0001761	Pes cavus
OMIM:612016	COQ8A	56997	HP:0003546	Exercise intolerance
OMIM:230600	GLB1	2720	HP:0002673	Coxa valga
OMIM:230600	GLB1	2720	HP:0007272	Progressive psychomotor deterioration
OMIM:230600	GLB1	2720	HP:0002059	Cerebral atrophy
OMIM:230600	GLB1	2720	HP:0001288	Gait disturbance
OMIM:230600	GLB1	2720	HP:0001743	Abnormality of the spleen
OMIM:230600	GLB1	2720	HP:0008166	Decreased beta-galactosidase activity
OMIM:230600	GLB1	2720	HP:0001251	Ataxia
OMIM:230600	GLB1	2720	HP:0001392	Abnormality of the liver
OMIM:230600	GLB1	2720	HP:0000271	Abnormality of the face
OMIM:230600	GLB1	2720	HP:0002510	Spastic tetraplegia
OMIM:230600	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230600	GLB1	2720	HP:0001982	Sea-blue histiocytosis
OMIM:230600	GLB1	2720	HP:0000648	Optic atrophy
OMIM:230600	GLB1	2720	HP:0007281	Developmental stagnation
OMIM:230600	GLB1	2720	HP:0002119	Ventriculomegaly
OMIM:230600	GLB1	2720	HP:0000926	Platyspondyly
OMIM:230600	GLB1	2720	HP:0002123	Generalized myoclonic seizures
OMIM:616185	MCM9	254394	HP:0000007	Autosomal recessive inheritance
OMIM:616185	MCM9	254394	HP:0002750	Delayed skeletal maturation
OMIM:616185	MCM9	254394	HP:0004325	Decreased body weight
OMIM:616185	MCM9	254394	HP:0004322	Short stature
OMIM:616185	MCM9	254394	HP:0000786	Primary amenorrhea
OMIM:277480	VWF	7450	HP:0000007	Autosomal recessive inheritance
OMIM:277480	VWF	7450	HP:0001873	Thrombocytopenia
OMIM:277480	VWF	7450	HP:0000421	Epistaxis
OMIM:277480	VWF	7450	HP:0003010	Prolonged bleeding time
OMIM:277480	VWF	7450	HP:0001934	Persistent bleeding after trauma
OMIM:277480	VWF	7450	HP:0000978	Bruising susceptibility
OMIM:277480	VWF	7450	HP:0008330	Reduced von Willebrand factor activity
OMIM:277480	VWF	7450	HP:0003125	Reduced factor VIII activity
OMIM:277480	VWF	7450	HP:0003540	Impaired platelet aggregation
OMIM:277480	VWF	7450	HP:0000132	Menorrhagia
ORPHA:79324	ALG12	79087	HP:0100543	Cognitive impairment
ORPHA:79324	ALG12	79087	HP:0001252	Muscular hypotonia
ORPHA:79324	ALG12	79087	HP:0000078	Abnormality of the genital system
ORPHA:79324	ALG12	79087	HP:0010978	Abnormality of immune system physiology
OMIM:605280	HSPD1	3329	HP:0003676	Progressive
OMIM:605280	HSPD1	3329	HP:0002061	Lower limb spasticity
OMIM:605280	HSPD1	3329	HP:0000012	Urinary urgency
OMIM:605280	HSPD1	3329	HP:0000006	Autosomal dominant inheritance
OMIM:605280	HSPD1	3329	HP:0001347	Hyperreflexia
OMIM:605280	HSPD1	3329	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:605280	HSPD1	3329	HP:0003487	Babinski sign
OMIM:605280	HSPD1	3329	HP:0007340	Lower limb muscle weakness
OMIM:605280	HSPD1	3329	HP:0000020	Urinary incontinence
OMIM:605280	HSPD1	3329	HP:0001258	Spastic paraplegia
OMIM:605280	HSPD1	3329	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:605280	HSPD1	3329	HP:0002064	Spastic gait
OMIM:613652	C1QA	712	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QA	712	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QA	712	HP:0002719	Recurrent infections
OMIM:613652	C1QB	713	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QB	713	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QB	713	HP:0002719	Recurrent infections
OMIM:613652	C1QC	714	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QC	714	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QC	714	HP:0002719	Recurrent infections
OMIM:601859	FAS	355	HP:0003613	Antiphospholipid antibody positivity
OMIM:601859	FAS	355	HP:0000006	Autosomal dominant inheritance
OMIM:601859	FAS	355	HP:0001891	Iron deficiency anemia
OMIM:601859	FAS	355	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
OMIM:601859	FAS	355	HP:0001890	Autoimmune hemolytic anemia
OMIM:601859	FAS	355	HP:0003261	Increased IgA level
OMIM:601859	FAS	355	HP:0002731	Decreased lymphocyte apoptosis
OMIM:601859	FAS	355	HP:0003496	Increased IgM level
OMIM:601859	FAS	355	HP:0001880	Eosinophilia
OMIM:601859	FAS	355	HP:0003493	Antinuclear antibody positivity
OMIM:601859	FAS	355	HP:0003262	Smooth muscle antibody positivity
OMIM:601859	FAS	355	HP:0001744	Splenomegaly
OMIM:601859	FAS	355	HP:0002923	Rheumatoid factor positive
OMIM:601859	FAS	355	HP:0002730	Chronic noninfectious lymphadenopathy
OMIM:601859	FAS	355	HP:0002633	Vasculitis
OMIM:601859	FAS	355	HP:0003454	Platelet antibody positive
OMIM:601859	FAS	355	HP:0001904	Autoimmune neutropenia
OMIM:601859	FAS	355	HP:0002853	Increased proportion of HLA DR+ and CD57+ T cells
OMIM:601859	FAS	355	HP:0003237	Increased IgG level
OMIM:601859	FAS	355	HP:0003453	Antineutrophil antibody positivity
OMIM:601859	FAS	355	HP:0001025	Urticaria
OMIM:601859	FAS	355	HP:0002972	Reduced delayed hypersensitivity
OMIM:601859	FAS	355	HP:0002240	Hepatomegaly
OMIM:601859	FAS	355	HP:0002729	Follicular hyperplasia
OMIM:601859	FAS	355	HP:0001973	Autoimmune thrombocytopenia
OMIM:601859	FAS	355	HP:0004844	Coombs-positive hemolytic anemia
OMIM:601859	FASLG	356	HP:0003613	Antiphospholipid antibody positivity
OMIM:601859	FASLG	356	HP:0000006	Autosomal dominant inheritance
OMIM:601859	FASLG	356	HP:0001891	Iron deficiency anemia
OMIM:601859	FASLG	356	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
OMIM:601859	FASLG	356	HP:0001890	Autoimmune hemolytic anemia
OMIM:601859	FASLG	356	HP:0003261	Increased IgA level
OMIM:601859	FASLG	356	HP:0002731	Decreased lymphocyte apoptosis
OMIM:601859	FASLG	356	HP:0003496	Increased IgM level
OMIM:601859	FASLG	356	HP:0001880	Eosinophilia
OMIM:601859	FASLG	356	HP:0003493	Antinuclear antibody positivity
OMIM:601859	FASLG	356	HP:0003262	Smooth muscle antibody positivity
OMIM:601859	FASLG	356	HP:0001744	Splenomegaly
OMIM:601859	FASLG	356	HP:0002923	Rheumatoid factor positive
OMIM:601859	FASLG	356	HP:0002730	Chronic noninfectious lymphadenopathy
OMIM:601859	FASLG	356	HP:0002633	Vasculitis
OMIM:601859	FASLG	356	HP:0003454	Platelet antibody positive
OMIM:601859	FASLG	356	HP:0001904	Autoimmune neutropenia
OMIM:601859	FASLG	356	HP:0002853	Increased proportion of HLA DR+ and CD57+ T cells
OMIM:601859	FASLG	356	HP:0003237	Increased IgG level
OMIM:601859	FASLG	356	HP:0003453	Antineutrophil antibody positivity
OMIM:601859	FASLG	356	HP:0001025	Urticaria
OMIM:601859	FASLG	356	HP:0002972	Reduced delayed hypersensitivity
OMIM:601859	FASLG	356	HP:0002240	Hepatomegaly
OMIM:601859	FASLG	356	HP:0002729	Follicular hyperplasia
OMIM:601859	FASLG	356	HP:0001973	Autoimmune thrombocytopenia
OMIM:601859	FASLG	356	HP:0004844	Coombs-positive hemolytic anemia
OMIM:613703	GDF3	9573	HP:0000589	Coloboma
OMIM:613703	GDF3	9573	HP:0000639	Nystagmus
OMIM:613703	GDF3	9573	HP:0007750	Hypoplasia of the fovea
OMIM:613703	GDF3	9573	HP:0007633	Bilateral microphthalmos
OMIM:613703	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:613703	GDF3	9573	HP:0000505	Visual impairment
OMIM:613703	GDF3	9573	HP:0010984	Digenic inheritance
OMIM:613703	GDF3	9573	HP:0007766	Optic disc hypoplasia
OMIM:613703	GDF6	392255	HP:0000589	Coloboma
OMIM:613703	GDF6	392255	HP:0000639	Nystagmus
OMIM:613703	GDF6	392255	HP:0007750	Hypoplasia of the fovea
OMIM:613703	GDF6	392255	HP:0007633	Bilateral microphthalmos
OMIM:613703	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613703	GDF6	392255	HP:0000505	Visual impairment
OMIM:613703	GDF6	392255	HP:0010984	Digenic inheritance
OMIM:613703	GDF6	392255	HP:0007766	Optic disc hypoplasia
OMIM:615184	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615184	CRYAB	1410	HP:0001653	Mitral regurgitation
OMIM:615184	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:612237	TAF15	8148	HP:0006765	Chondrosarcoma
OMIM:612237	TAF15	8148	HP:0001428	Somatic mutation
OMIM:612237	NR4A3	8013	HP:0006765	Chondrosarcoma
OMIM:612237	NR4A3	8013	HP:0001428	Somatic mutation
OMIM:120430	PAX6	5080	HP:0000541	Retinal detachment
OMIM:120430	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:120430	PAX6	5080	HP:0000588	Optic nerve coloboma
ORPHA:436274	GGCX	2677	HP:0200034	Papule
ORPHA:436274	GGCX	2677	HP:0007522	Increased number of skin folds
ORPHA:436274	GGCX	2677	HP:0007980	Absent retinal pigment epithelium
ORPHA:436274	GGCX	2677	HP:0000486	Strabismus
ORPHA:436274	GGCX	2677	HP:0000510	Rod-cone dystrophy
ORPHA:436274	GGCX	2677	HP:0000662	Nyctalopia
ORPHA:436274	GGCX	2677	HP:0000587	Abnormality of the optic nerve
ORPHA:436274	GGCX	2677	HP:0007843	Attenuation of retinal blood vessels
ORPHA:436274	GGCX	2677	HP:0001582	Redundant skin
OMIM:616032	ANLN	54443	HP:0000006	Autosomal dominant inheritance
OMIM:616032	ANLN	54443	HP:0000093	Proteinuria
OMIM:616032	ANLN	54443	HP:0000097	Focal segmental glomerulosclerosis
OMIM:616032	ANLN	54443	HP:0003774	Stage 5 chronic kidney disease
OMIM:616032	ANLN	54443	HP:0000100	Nephrotic syndrome
OMIM:194200	PRKAG2	51422	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:194200	PRKAG2	51422	HP:0001962	Palpitations
OMIM:194200	PRKAG2	51422	HP:0001645	Sudden cardiac death
OMIM:194200	PRKAG2	51422	HP:0004763	Paroxysmal supraventricular tachycardia
OMIM:194200	PRKAG2	51422	HP:0005165	Shortened PR interval
OMIM:194200	PRKAG2	51422	HP:0004757	Paroxysmal atrial fibrillation
OMIM:194200	PRKAG2	51422	HP:0006677	Prolonged QRS complex
OMIM:194200	PRKAG2	51422	HP:0006684	Ventricular preexcitation with multiple accessory pathways
OMIM:194200	PRKAG2	51422	HP:0001297	Stroke
OMIM:194200	PRKAG2	51422	HP:0001638	Cardiomyopathy
OMIM:613068	FOLR1	2348	HP:0000007	Autosomal recessive inheritance
OMIM:613068	FOLR1	2348	HP:0002180	Neurodegeneration
OMIM:613068	FOLR1	2348	HP:0001249	Intellectual disability
OMIM:613068	FOLR1	2348	HP:0001250	Seizures
OMIM:613068	FOLR1	2348	HP:0002376	Developmental regression
OMIM:182940	VANGL2	57216	HP:0008482	Asymmetry of spinal facet joints
OMIM:182940	VANGL2	57216	HP:0000020	Urinary incontinence
OMIM:182940	VANGL2	57216	HP:0002475	Myelomeningocele
OMIM:182940	VANGL2	57216	HP:0003298	Spina bifida occulta
OMIM:182940	VANGL2	57216	HP:0000006	Autosomal dominant inheritance
OMIM:182940	VANGL2	57216	HP:0000238	Hydrocephalus
OMIM:182940	VANGL2	57216	HP:0001012	Multiple lipomas
OMIM:182940	VANGL2	57216	HP:0002323	Anencephaly
OMIM:182940	FUZ	80199	HP:0008482	Asymmetry of spinal facet joints
OMIM:182940	FUZ	80199	HP:0000020	Urinary incontinence
OMIM:182940	FUZ	80199	HP:0002475	Myelomeningocele
OMIM:182940	FUZ	80199	HP:0003298	Spina bifida occulta
OMIM:182940	FUZ	80199	HP:0000006	Autosomal dominant inheritance
OMIM:182940	FUZ	80199	HP:0000238	Hydrocephalus
OMIM:182940	FUZ	80199	HP:0001012	Multiple lipomas
OMIM:182940	FUZ	80199	HP:0002323	Anencephaly
OMIM:258100	SAG	6295	HP:0012047	Hemeralopia
OMIM:258100	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:258100	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:136800	COL8A2	1296	HP:0012039	Descemet Membrane Folds
OMIM:136800	COL8A2	1296	HP:0012038	Corneal guttata
OMIM:136800	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:136800	COL8A2	1296	HP:0007705	Corneal degeneration
OMIM:136800	COL8A2	1296	HP:0012040	Corneal stromal edema
OMIM:136800	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:615771	TUBB	203068	HP:0000750	Delayed speech and language development
OMIM:615771	TUBB	203068	HP:0001263	Global developmental delay
OMIM:615771	TUBB	203068	HP:0000006	Autosomal dominant inheritance
OMIM:615771	TUBB	203068	HP:0003577	Congenital onset
OMIM:615771	TUBB	203068	HP:0000252	Microcephaly
OMIM:615771	TUBB	203068	HP:0001321	Cerebellar hypoplasia
OMIM:615771	TUBB	203068	HP:0002365	Hypoplasia of the brainstem
OMIM:615771	TUBB	203068	HP:0001251	Ataxia
OMIM:181270	KCTD1	284252	HP:0011272	Underdeveloped tragus
OMIM:181270	KCTD1	284252	HP:0000378	Cupped ear
OMIM:181270	KCTD1	284252	HP:0011939	3-4 finger cutaneous syndactyly
OMIM:181270	KCTD1	284252	HP:0100783	Breast aplasia
OMIM:181270	KCTD1	284252	HP:0005280	Depressed nasal bridge
OMIM:181270	KCTD1	284252	HP:0000818	Abnormality of the endocrine system
OMIM:181270	KCTD1	284252	HP:0100540	Palpebral edema
OMIM:181270	KCTD1	284252	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:181270	KCTD1	284252	HP:0006349	Agenesis of permanent teeth
OMIM:181270	KCTD1	284252	HP:0000369	Low-set ears
OMIM:181270	KCTD1	284252	HP:0000411	Protruding ear
OMIM:181270	KCTD1	284252	HP:0000765	Abnormality of the thorax
OMIM:181270	KCTD1	284252	HP:0004691	2-3 toe syndactyly
OMIM:181270	KCTD1	284252	HP:0008551	Microtia
OMIM:181270	KCTD1	284252	HP:0002164	Nail dysplasia
OMIM:181270	KCTD1	284252	HP:0000385	Small earlobe
OMIM:181270	KCTD1	284252	HP:0011251	Underdeveloped antitragus
OMIM:181270	KCTD1	284252	HP:0000006	Autosomal dominant inheritance
OMIM:617290	PLPBP	11212	HP:0005484	Postnatal microcephaly
OMIM:617290	PLPBP	11212	HP:0002093	Respiratory insufficiency
OMIM:617290	PLPBP	11212	HP:0002104	Apnea
OMIM:617290	PLPBP	11212	HP:0002465	Poor speech
OMIM:617290	PLPBP	11212	HP:0001249	Intellectual disability
OMIM:617290	PLPBP	11212	HP:0000007	Autosomal recessive inheritance
OMIM:617290	PLPBP	11212	HP:0001276	Hypertonia
OMIM:617290	PLPBP	11212	HP:0002169	Clonus
OMIM:617290	PLPBP	11212	HP:0001263	Global developmental delay
OMIM:617290	PLPBP	11212	HP:0001336	Myoclonus
OMIM:617290	PLPBP	11212	HP:0002119	Ventriculomegaly
ORPHA:667	CLCN7	1186	HP:0002653	Bone pain
ORPHA:667	CLCN7	1186	HP:0000639	Nystagmus
ORPHA:667	CLCN7	1186	HP:0001903	Anemia
ORPHA:667	CLCN7	1186	HP:0001337	Tremor
ORPHA:667	CLCN7	1186	HP:0000944	Abnormality of the metaphysis
ORPHA:667	CLCN7	1186	HP:0004349	Reduced bone mineral density
ORPHA:667	CLCN7	1186	HP:0007807	Optic nerve compression
ORPHA:667	CLCN7	1186	HP:0010543	Opsoclonus
ORPHA:667	CLCN7	1186	HP:0002205	Recurrent respiratory infections
ORPHA:667	CLCN7	1186	HP:0000256	Macrocephaly
ORPHA:667	CLCN7	1186	HP:0011002	Osteopetrosis
ORPHA:667	CLCN7	1186	HP:0000649	Abnormality of visual evoked potentials
ORPHA:667	CLCN7	1186	HP:0001363	Craniosynostosis
ORPHA:667	CLCN7	1186	HP:0000505	Visual impairment
ORPHA:667	CLCN7	1186	HP:0002716	Lymphadenopathy
ORPHA:667	CLCN7	1186	HP:0001510	Growth delay
ORPHA:667	CLCN7	1186	HP:0000684	Delayed eruption of teeth
ORPHA:667	CLCN7	1186	HP:0008066	Abnormal blistering of the skin
ORPHA:667	CLCN7	1186	HP:0002240	Hepatomegaly
ORPHA:667	CLCN7	1186	HP:0010719	Abnormality of hair texture
ORPHA:667	CLCN7	1186	HP:0000388	Otitis media
ORPHA:667	CLCN7	1186	HP:0004370	Abnormality of temperature regulation
ORPHA:667	CLCN7	1186	HP:0000774	Narrow chest
ORPHA:667	CLCN7	1186	HP:0006323	Premature loss of primary teeth
ORPHA:667	CLCN7	1186	HP:0000772	Abnormality of the ribs
ORPHA:667	CLCN7	1186	HP:0001744	Splenomegaly
ORPHA:667	CLCN7	1186	HP:0002757	Recurrent fractures
ORPHA:667	CLCN7	1186	HP:0000365	Hearing impairment
ORPHA:667	CLCN7	1186	HP:0006487	Bowing of the long bones
ORPHA:667	CLCN7	1186	HP:0000238	Hydrocephalus
ORPHA:667	CLCN7	1186	HP:0005930	Abnormality of epiphysis morphology
ORPHA:667	CLCN7	1186	HP:0000980	Pallor
ORPHA:667	CLCN7	1186	HP:0002257	Chronic rhinitis
ORPHA:667	TCIRG1	10312	HP:0002653	Bone pain
ORPHA:667	TCIRG1	10312	HP:0000639	Nystagmus
ORPHA:667	TCIRG1	10312	HP:0001903	Anemia
ORPHA:667	TCIRG1	10312	HP:0001337	Tremor
ORPHA:667	TCIRG1	10312	HP:0000944	Abnormality of the metaphysis
ORPHA:667	TCIRG1	10312	HP:0004349	Reduced bone mineral density
ORPHA:667	TCIRG1	10312	HP:0007807	Optic nerve compression
ORPHA:667	TCIRG1	10312	HP:0010543	Opsoclonus
ORPHA:667	TCIRG1	10312	HP:0002205	Recurrent respiratory infections
ORPHA:667	TCIRG1	10312	HP:0000256	Macrocephaly
ORPHA:667	TCIRG1	10312	HP:0011002	Osteopetrosis
ORPHA:667	TCIRG1	10312	HP:0000649	Abnormality of visual evoked potentials
ORPHA:667	TCIRG1	10312	HP:0001363	Craniosynostosis
ORPHA:667	TCIRG1	10312	HP:0000505	Visual impairment
ORPHA:667	TCIRG1	10312	HP:0002716	Lymphadenopathy
ORPHA:667	TCIRG1	10312	HP:0001510	Growth delay
ORPHA:667	TCIRG1	10312	HP:0000684	Delayed eruption of teeth
ORPHA:667	TCIRG1	10312	HP:0008066	Abnormal blistering of the skin
ORPHA:667	TCIRG1	10312	HP:0002240	Hepatomegaly
ORPHA:667	TCIRG1	10312	HP:0010719	Abnormality of hair texture
ORPHA:667	TCIRG1	10312	HP:0000388	Otitis media
ORPHA:667	TCIRG1	10312	HP:0004370	Abnormality of temperature regulation
ORPHA:667	TCIRG1	10312	HP:0000774	Narrow chest
ORPHA:667	TCIRG1	10312	HP:0006323	Premature loss of primary teeth
ORPHA:667	TCIRG1	10312	HP:0000772	Abnormality of the ribs
ORPHA:667	TCIRG1	10312	HP:0001744	Splenomegaly
ORPHA:667	TCIRG1	10312	HP:0002757	Recurrent fractures
ORPHA:667	TCIRG1	10312	HP:0000365	Hearing impairment
ORPHA:667	TCIRG1	10312	HP:0006487	Bowing of the long bones
ORPHA:667	TCIRG1	10312	HP:0000238	Hydrocephalus
ORPHA:667	TCIRG1	10312	HP:0005930	Abnormality of epiphysis morphology
ORPHA:667	TCIRG1	10312	HP:0000980	Pallor
ORPHA:667	TCIRG1	10312	HP:0002257	Chronic rhinitis
ORPHA:667	TNFSF11	8600	HP:0002653	Bone pain
ORPHA:667	TNFSF11	8600	HP:0000639	Nystagmus
ORPHA:667	TNFSF11	8600	HP:0001903	Anemia
ORPHA:667	TNFSF11	8600	HP:0001337	Tremor
ORPHA:667	TNFSF11	8600	HP:0000944	Abnormality of the metaphysis
ORPHA:667	TNFSF11	8600	HP:0004349	Reduced bone mineral density
ORPHA:667	TNFSF11	8600	HP:0007807	Optic nerve compression
ORPHA:667	TNFSF11	8600	HP:0010543	Opsoclonus
ORPHA:667	TNFSF11	8600	HP:0002205	Recurrent respiratory infections
ORPHA:667	TNFSF11	8600	HP:0000256	Macrocephaly
ORPHA:667	TNFSF11	8600	HP:0011002	Osteopetrosis
ORPHA:667	TNFSF11	8600	HP:0000649	Abnormality of visual evoked potentials
ORPHA:667	TNFSF11	8600	HP:0001363	Craniosynostosis
ORPHA:667	TNFSF11	8600	HP:0000505	Visual impairment
ORPHA:667	TNFSF11	8600	HP:0002716	Lymphadenopathy
ORPHA:667	TNFSF11	8600	HP:0001510	Growth delay
ORPHA:667	TNFSF11	8600	HP:0000684	Delayed eruption of teeth
ORPHA:667	TNFSF11	8600	HP:0008066	Abnormal blistering of the skin
ORPHA:667	TNFSF11	8600	HP:0002240	Hepatomegaly
ORPHA:667	TNFSF11	8600	HP:0010719	Abnormality of hair texture
ORPHA:667	TNFSF11	8600	HP:0000388	Otitis media
ORPHA:667	TNFSF11	8600	HP:0004370	Abnormality of temperature regulation
ORPHA:667	TNFSF11	8600	HP:0000774	Narrow chest
ORPHA:667	TNFSF11	8600	HP:0006323	Premature loss of primary teeth
ORPHA:667	TNFSF11	8600	HP:0000772	Abnormality of the ribs
ORPHA:667	TNFSF11	8600	HP:0001744	Splenomegaly
ORPHA:667	TNFSF11	8600	HP:0002757	Recurrent fractures
ORPHA:667	TNFSF11	8600	HP:0000365	Hearing impairment
ORPHA:667	TNFSF11	8600	HP:0006487	Bowing of the long bones
ORPHA:667	TNFSF11	8600	HP:0000238	Hydrocephalus
ORPHA:667	TNFSF11	8600	HP:0005930	Abnormality of epiphysis morphology
ORPHA:667	TNFSF11	8600	HP:0000980	Pallor
ORPHA:667	TNFSF11	8600	HP:0002257	Chronic rhinitis
ORPHA:667	SNX10	29887	HP:0002653	Bone pain
ORPHA:667	SNX10	29887	HP:0000639	Nystagmus
ORPHA:667	SNX10	29887	HP:0001903	Anemia
ORPHA:667	SNX10	29887	HP:0001337	Tremor
ORPHA:667	SNX10	29887	HP:0000944	Abnormality of the metaphysis
ORPHA:667	SNX10	29887	HP:0004349	Reduced bone mineral density
ORPHA:667	SNX10	29887	HP:0007807	Optic nerve compression
ORPHA:667	SNX10	29887	HP:0010543	Opsoclonus
ORPHA:667	SNX10	29887	HP:0002205	Recurrent respiratory infections
ORPHA:667	SNX10	29887	HP:0000256	Macrocephaly
ORPHA:667	SNX10	29887	HP:0011002	Osteopetrosis
ORPHA:667	SNX10	29887	HP:0000649	Abnormality of visual evoked potentials
ORPHA:667	SNX10	29887	HP:0001363	Craniosynostosis
ORPHA:667	SNX10	29887	HP:0000505	Visual impairment
ORPHA:667	SNX10	29887	HP:0002716	Lymphadenopathy
ORPHA:667	SNX10	29887	HP:0001510	Growth delay
ORPHA:667	SNX10	29887	HP:0000684	Delayed eruption of teeth
ORPHA:667	SNX10	29887	HP:0008066	Abnormal blistering of the skin
ORPHA:667	SNX10	29887	HP:0002240	Hepatomegaly
ORPHA:667	SNX10	29887	HP:0010719	Abnormality of hair texture
ORPHA:667	SNX10	29887	HP:0000388	Otitis media
ORPHA:667	SNX10	29887	HP:0004370	Abnormality of temperature regulation
ORPHA:667	SNX10	29887	HP:0000774	Narrow chest
ORPHA:667	SNX10	29887	HP:0006323	Premature loss of primary teeth
ORPHA:667	SNX10	29887	HP:0000772	Abnormality of the ribs
ORPHA:667	SNX10	29887	HP:0001744	Splenomegaly
ORPHA:667	SNX10	29887	HP:0002757	Recurrent fractures
ORPHA:667	SNX10	29887	HP:0000365	Hearing impairment
ORPHA:667	SNX10	29887	HP:0006487	Bowing of the long bones
ORPHA:667	SNX10	29887	HP:0000238	Hydrocephalus
ORPHA:667	SNX10	29887	HP:0005930	Abnormality of epiphysis morphology
ORPHA:667	SNX10	29887	HP:0000980	Pallor
ORPHA:667	SNX10	29887	HP:0002257	Chronic rhinitis
OMIM:607847	GFI1	2672	HP:0001875	Neutropenia
OMIM:607847	GFI1	2672	HP:0000006	Autosomal dominant inheritance
OMIM:193400	VWF	7450	HP:0003125	Reduced factor VIII activity
OMIM:193400	VWF	7450	HP:0005542	Prolonged whole-blood clotting time
OMIM:193400	VWF	7450	HP:0000421	Epistaxis
OMIM:193400	VWF	7450	HP:0001650	Aortic valve stenosis
OMIM:193400	VWF	7450	HP:0005261	Joint hemorrhage
OMIM:193400	VWF	7450	HP:0003010	Prolonged bleeding time
OMIM:193400	VWF	7450	HP:0003829	Incomplete penetrance
OMIM:193400	VWF	7450	HP:0003540	Impaired platelet aggregation
OMIM:193400	VWF	7450	HP:0000006	Autosomal dominant inheritance
OMIM:193400	VWF	7450	HP:0001634	Mitral valve prolapse
OMIM:193400	VWF	7450	HP:0000471	Gastrointestinal angiodysplasia
OMIM:193400	VWF	7450	HP:0002239	Gastrointestinal hemorrhage
OMIM:193400	VWF	7450	HP:0000132	Menorrhagia
OMIM:193400	VWF	7450	HP:0000978	Bruising susceptibility
OMIM:262650	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:262650	GH1	2688	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:262650	GH1	2688	HP:0002750	Delayed skeletal maturation
OMIM:262650	GH1	2688	HP:0000839	Pituitary dwarfism
OMIM:602531	YY1AP1	55249	HP:0004325	Decreased body weight
OMIM:602531	YY1AP1	55249	HP:0100817	Renovascular hypertension
OMIM:602531	YY1AP1	55249	HP:0001156	Brachydactyly
OMIM:602531	YY1AP1	55249	HP:0002757	Recurrent fractures
OMIM:602531	YY1AP1	55249	HP:0001920	Renal artery stenosis
OMIM:602531	YY1AP1	55249	HP:0001249	Intellectual disability
OMIM:602531	YY1AP1	55249	HP:0000007	Autosomal recessive inheritance
OMIM:602531	YY1AP1	55249	HP:0001159	Syndactyly
OMIM:308240	SH2D1A	4068	HP:0001419	X-linked recessive inheritance
OMIM:308240	SH2D1A	4068	HP:0002240	Hepatomegaly
OMIM:308240	SH2D1A	4068	HP:0004787	Fulminant hepatitis
OMIM:308240	SH2D1A	4068	HP:0100776	Recurrent pharyngitis
OMIM:308240	SH2D1A	4068	HP:0002383	Encephalitis
OMIM:308240	SH2D1A	4068	HP:0012178	Reduced natural killer cell activity
OMIM:308240	SH2D1A	4068	HP:0002721	Immunodeficiency
OMIM:308240	SH2D1A	4068	HP:0002665	Lymphoma
OMIM:308240	SH2D1A	4068	HP:0003496	Increased IgM level
OMIM:308240	SH2D1A	4068	HP:0004315	IgG deficiency
OMIM:308240	SH2D1A	4068	HP:0001876	Pancytopenia
OMIM:308240	SH2D1A	4068	HP:0001873	Thrombocytopenia
OMIM:308240	SH2D1A	4068	HP:0002480	Hepatic encephalopathy
OMIM:308240	SH2D1A	4068	HP:0001287	Meningitis
OMIM:308240	SH2D1A	4068	HP:0001744	Splenomegaly
OMIM:308240	SH2D1A	4068	HP:0001903	Anemia
OMIM:308240	SH2D1A	4068	HP:0002716	Lymphadenopathy
OMIM:308240	XIAP	331	HP:0001419	X-linked recessive inheritance
OMIM:308240	XIAP	331	HP:0002240	Hepatomegaly
OMIM:308240	XIAP	331	HP:0004787	Fulminant hepatitis
OMIM:308240	XIAP	331	HP:0100776	Recurrent pharyngitis
OMIM:308240	XIAP	331	HP:0002383	Encephalitis
OMIM:308240	XIAP	331	HP:0012178	Reduced natural killer cell activity
OMIM:308240	XIAP	331	HP:0002721	Immunodeficiency
OMIM:308240	XIAP	331	HP:0002665	Lymphoma
OMIM:308240	XIAP	331	HP:0003496	Increased IgM level
OMIM:308240	XIAP	331	HP:0004315	IgG deficiency
OMIM:308240	XIAP	331	HP:0001876	Pancytopenia
OMIM:308240	XIAP	331	HP:0001873	Thrombocytopenia
OMIM:308240	XIAP	331	HP:0002480	Hepatic encephalopathy
OMIM:308240	XIAP	331	HP:0001287	Meningitis
OMIM:308240	XIAP	331	HP:0001744	Splenomegaly
OMIM:308240	XIAP	331	HP:0001903	Anemia
OMIM:308240	XIAP	331	HP:0002716	Lymphadenopathy
ORPHA:839	NPHS1	4868	HP:0000093	Proteinuria
ORPHA:839	NPHS1	4868	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
ORPHA:839	NPHS1	4868	HP:0000696	Delayed eruption of permanent teeth
ORPHA:839	NPHS1	4868	HP:0000100	Nephrotic syndrome
ORPHA:839	NPHS1	4868	HP:0000091	Abnormality of the renal tubule
OMIM:603457	SMCHD1	23347	HP:0011800	Midface retrusion
OMIM:603457	SMCHD1	23347	HP:0000028	Cryptorchidism
OMIM:603457	SMCHD1	23347	HP:0000786	Primary amenorrhea
OMIM:603457	SMCHD1	23347	HP:0000218	High palate
OMIM:603457	SMCHD1	23347	HP:0000568	Microphthalmia
OMIM:603457	SMCHD1	23347	HP:0000054	Micropenis
OMIM:603457	SMCHD1	23347	HP:0000175	Cleft palate
OMIM:603457	SMCHD1	23347	HP:0000006	Autosomal dominant inheritance
OMIM:603457	SMCHD1	23347	HP:0000453	Choanal atresia
OMIM:603457	SMCHD1	23347	HP:0000458	Anosmia
OMIM:603457	SMCHD1	23347	HP:0000589	Coloboma
OMIM:603457	SMCHD1	23347	HP:0009927	Aplasia of the nose
OMIM:603457	SMCHD1	23347	HP:0000316	Hypertelorism
OMIM:603457	SMCHD1	23347	HP:0000135	Hypogonadism
OMIM:603457	SMCHD1	23347	HP:0004409	Hyposmia
OMIM:237310	NAGS	162417	HP:0002013	Vomiting
OMIM:237310	NAGS	162417	HP:0002098	Respiratory distress
OMIM:237310	NAGS	162417	HP:0001987	Hyperammonemia
OMIM:237310	NAGS	162417	HP:0001289	Confusion
OMIM:237310	NAGS	162417	HP:0001259	Coma
OMIM:237310	NAGS	162417	HP:0001250	Seizures
OMIM:237310	NAGS	162417	HP:0001254	Lethargy
OMIM:237310	NAGS	162417	HP:0001508	Failure to thrive
OMIM:237310	NAGS	162417	HP:0000007	Autosomal recessive inheritance
OMIM:237310	NAGS	162417	HP:0000718	Aggressive behavior
OMIM:237310	NAGS	162417	HP:0100543	Cognitive impairment
OMIM:275120	TRH	7200	HP:0000958	Dry skin
OMIM:275120	TRH	7200	HP:0001324	Muscle weakness
OMIM:275120	TRH	7200	HP:0000007	Autosomal recessive inheritance
OMIM:275120	TRH	7200	HP:0002019	Constipation
OMIM:275120	TRH	7200	HP:0004322	Short stature
OMIM:275120	TRH	7200	HP:0001609	Hoarse voice
OMIM:275120	TRH	7200	HP:0001249	Intellectual disability
OMIM:275120	TRH	7200	HP:0002750	Delayed skeletal maturation
OMIM:275120	TRH	7200	HP:0008237	Hypothalamic hypothyroidism
OMIM:614500	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	C8ORF37	157657	HP:0000529	Progressive visual loss
OMIM:614500	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:614500	C8ORF37	157657	HP:0000613	Photophobia
OMIM:614500	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:614500	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:614500	C8ORF37	157657	HP:0000518	Cataract
OMIM:614500	C8ORF37	157657	HP:0025147	Beaten bronze macular sheen
OMIM:614500	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:614500	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:254210	CHAT	1103	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	CHAT	1103	HP:0003577	Congenital onset
OMIM:254210	CHAT	1103	HP:0003402	Decreased miniature endplate potentials
OMIM:254210	CHAT	1103	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:254210	CHAT	1103	HP:0000597	Ophthalmoparesis
OMIM:254210	CHAT	1103	HP:0003554	Type 2 muscle fiber atrophy
OMIM:254210	CHAT	1103	HP:0001612	Weak cry
OMIM:254210	CHAT	1103	HP:0001425	Heterogeneous
OMIM:254210	CHAT	1103	HP:0002015	Dysphagia
OMIM:254210	CHAT	1103	HP:0001283	Bulbar palsy
OMIM:254210	CHAT	1103	HP:0000007	Autosomal recessive inheritance
OMIM:254210	CHAT	1103	HP:0000486	Strabismus
OMIM:254210	CHAT	1103	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	CHAT	1103	HP:0003473	Fatigable weakness
OMIM:254210	CHAT	1103	HP:0002098	Respiratory distress
OMIM:254210	CHAT	1103	HP:0002882	Sudden episodic apnea
OMIM:254210	CHAT	1103	HP:0002033	Poor suck
OMIM:254210	CHAT	1103	HP:0000508	Ptosis
OMIM:254210	CHAT	1103	HP:0002715	Abnormality of the immune system
OMIM:254210	CHAT	1103	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
OMIM:254210	CHAT	1103	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction
OMIM:603830	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:603830	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:603830	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:603830	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:603830	SCN5A	6331	HP:0001425	Heterogeneous
OMIM:603830	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:603830	SCN5A	6331	HP:0001279	Syncope
ORPHA:75392	C1R	715	HP:0001075	Atrophic scars
ORPHA:75392	C1R	715	HP:0000974	Hyperextensible skin
ORPHA:75392	C1R	715	HP:0005692	Joint hyperflexibility
ORPHA:75392	C1R	715	HP:0000704	Periodontitis
ORPHA:75392	C1R	715	HP:0004322	Short stature
ORPHA:75392	C1R	715	HP:0000691	Microdontia
ORPHA:75392	C1R	715	HP:0006308	Atrophy of alveolar ridges
ORPHA:75392	C1R	715	HP:0000212	Gingival overgrowth
ORPHA:75392	C1R	715	HP:0001034	Hypermelanotic macule
ORPHA:75392	C1R	715	HP:0006349	Agenesis of permanent teeth
ORPHA:75392	C1S	716	HP:0001075	Atrophic scars
ORPHA:75392	C1S	716	HP:0000974	Hyperextensible skin
ORPHA:75392	C1S	716	HP:0005692	Joint hyperflexibility
ORPHA:75392	C1S	716	HP:0000704	Periodontitis
ORPHA:75392	C1S	716	HP:0004322	Short stature
ORPHA:75392	C1S	716	HP:0000691	Microdontia
ORPHA:75392	C1S	716	HP:0006308	Atrophy of alveolar ridges
ORPHA:75392	C1S	716	HP:0000212	Gingival overgrowth
ORPHA:75392	C1S	716	HP:0001034	Hypermelanotic macule
ORPHA:75392	C1S	716	HP:0006349	Agenesis of permanent teeth
ORPHA:777	ZNF711	7552	HP:0001249	Intellectual disability
ORPHA:777	IL1RAPL1	11141	HP:0001249	Intellectual disability
ORPHA:777	ACSL4	2182	HP:0001249	Intellectual disability
ORPHA:777	PAK3	5063	HP:0001249	Intellectual disability
ORPHA:777	SYP	6855	HP:0001249	Intellectual disability
ORPHA:777	FTSJ1	24140	HP:0001249	Intellectual disability
ORPHA:777	DLG3	1741	HP:0001249	Intellectual disability
ORPHA:777	PTCHD1	139411	HP:0001249	Intellectual disability
ORPHA:777	CNKSR2	22866	HP:0001249	Intellectual disability
ORPHA:777	UPF3B	65109	HP:0001249	Intellectual disability
ORPHA:777	ZNF81	347344	HP:0001249	Intellectual disability
ORPHA:777	RAB39B	116442	HP:0001249	Intellectual disability
ORPHA:777	DMD	1756	HP:0001249	Intellectual disability
ORPHA:777	FRMPD4	9758	HP:0001249	Intellectual disability
ORPHA:777	CLCN4	1183	HP:0001249	Intellectual disability
ORPHA:777	MID2	11043	HP:0001249	Intellectual disability
ORPHA:777	USP27X	389856	HP:0001249	Intellectual disability
ORPHA:777	GDI1	2664	HP:0001249	Intellectual disability
ORPHA:777	ZNF41	7592	HP:0001249	Intellectual disability
ORPHA:777	MECP2	4204	HP:0001249	Intellectual disability
ORPHA:777	HCFC1	3054	HP:0001249	Intellectual disability
ORPHA:777	USP9X	8239	HP:0001249	Intellectual disability
ORPHA:777	MED12	9968	HP:0001249	Intellectual disability
ORPHA:777	ARHGEF6	9459	HP:0001249	Intellectual disability
ORPHA:777	RPS6KA3	6197	HP:0001249	Intellectual disability
ORPHA:777	IQSEC2	23096	HP:0001249	Intellectual disability
ORPHA:777	AGTR2	186	HP:0001249	Intellectual disability
ORPHA:777	ARX	170302	HP:0001249	Intellectual disability
ORPHA:777	RLIM	51132	HP:0001249	Intellectual disability
ORPHA:777	ALG13	79868	HP:0001249	Intellectual disability
ORPHA:777	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:605375	CHRNB2	1141	HP:0001250	Seizures
OMIM:605375	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:614844	ZNF423	23090	HP:0003812	Phenotypic variability
OMIM:614844	ZNF423	23090	HP:0000006	Autosomal dominant inheritance
OMIM:614844	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:614844	ZNF423	23090	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:614844	ZNF423	23090	HP:0000113	Polycystic kidney dysplasia
ORPHA:1215	OPA1	4976	HP:0000505	Visual impairment
ORPHA:1215	OPA1	4976	HP:0000648	Optic atrophy
ORPHA:1215	OPA1	4976	HP:0000407	Sensorineural hearing impairment
ORPHA:1215	OPA1	4976	HP:0000551	Abnormality of color vision
ORPHA:1215	OPA1	4976	HP:0007328	Impaired pain sensation
ORPHA:1215	OPA1	4976	HP:0001315	Reduced tendon reflexes
OMIM:308205	MBTPS2	51360	HP:0000252	Microcephaly
OMIM:308205	MBTPS2	51360	HP:0000772	Abnormality of the ribs
OMIM:308205	MBTPS2	51360	HP:0000122	Unilateral renal agenesis
OMIM:308205	MBTPS2	51360	HP:0000966	Hypohidrosis
OMIM:308205	MBTPS2	51360	HP:0001249	Intellectual disability
OMIM:308205	MBTPS2	51360	HP:0001596	Alopecia
OMIM:308205	MBTPS2	51360	HP:0000968	Ectodermal dysplasia
OMIM:308205	MBTPS2	51360	HP:0000110	Renal dysplasia
OMIM:308205	MBTPS2	51360	HP:0000958	Dry skin
OMIM:308205	MBTPS2	51360	HP:0002119	Ventriculomegaly
OMIM:308205	MBTPS2	51360	HP:0000561	Absent eyelashes
OMIM:308205	MBTPS2	51360	HP:0001562	Oligohydramnios
OMIM:308205	MBTPS2	51360	HP:0003577	Congenital onset
OMIM:308205	MBTPS2	51360	HP:0040189	Scaling skin
OMIM:308205	MBTPS2	51360	HP:0000028	Cryptorchidism
OMIM:308205	MBTPS2	51360	HP:0000023	Inguinal hernia
OMIM:308205	MBTPS2	51360	HP:0000495	Recurrent corneal erosions
OMIM:308205	MBTPS2	51360	HP:0001419	X-linked recessive inheritance
OMIM:308205	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:308205	MBTPS2	51360	HP:0005254	Unilateral chest hypoplasia
OMIM:308205	MBTPS2	51360	HP:0002079	Hypoplasia of the corpus callosum
OMIM:308205	MBTPS2	51360	HP:0001250	Seizures
OMIM:308205	MBTPS2	51360	HP:0000613	Photophobia
OMIM:308205	MBTPS2	51360	HP:0002542	Olivopontocerebellar atrophy
OMIM:308205	MBTPS2	51360	HP:0012444	Brain atrophy
OMIM:308205	MBTPS2	51360	HP:0007502	Follicular hyperkeratosis
OMIM:308205	MBTPS2	51360	HP:0002223	Absent eyebrow
OMIM:308205	MBTPS2	51360	HP:0003828	Variable expressivity
OMIM:308205	MBTPS2	51360	HP:0001019	Erythroderma
OMIM:308205	MBTPS2	51360	HP:0007759	Opacification of the corneal stroma
OMIM:308205	MBTPS2	51360	HP:0002650	Scoliosis
OMIM:308205	MBTPS2	51360	HP:0008404	Nail dystrophy
OMIM:308205	MBTPS2	51360	HP:0001263	Global developmental delay
OMIM:308205	MBTPS2	51360	HP:0003468	Abnormal vertebral morphology
OMIM:308205	MBTPS2	51360	HP:0004322	Short stature
OMIM:308205	MBTPS2	51360	HP:0000003	Multicystic kidney dysplasia
OMIM:308205	MBTPS2	51360	HP:0001537	Umbilical hernia
OMIM:603543	TP63	8626	HP:0001159	Syndactyly
OMIM:603543	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:603543	TP63	8626	HP:0012385	Camptodactyly
OMIM:603543	TP63	8626	HP:0000668	Hypodontia
OMIM:603543	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:603543	TP63	8626	HP:0001822	Hallux valgus
OMIM:603543	TP63	8626	HP:0002164	Nail dysplasia
OMIM:603543	TP63	8626	HP:0001839	Split foot
OMIM:603543	TP63	8626	HP:0000193	Bifid uvula
OMIM:603543	TP63	8626	HP:0001171	Split hand
OMIM:603543	TP63	8626	HP:0000966	Hypohidrosis
OMIM:603543	TP63	8626	HP:0009473	Joint contracture of the hand
OMIM:603543	TP63	8626	HP:0000175	Cleft palate
OMIM:603543	TP63	8626	HP:0000564	Lacrimal duct atresia
ORPHA:352582	TBC1D24	57465	HP:0001326	EEG with irregular generalized spike and wave complexes
ORPHA:352582	TBC1D24	57465	HP:0001268	Mental deterioration
ORPHA:352582	TBC1D24	57465	HP:0000737	Irritability
ORPHA:352582	TBC1D24	57465	HP:0001256	Intellectual disability, mild
ORPHA:352582	TBC1D24	57465	HP:0001263	Global developmental delay
ORPHA:352582	TBC1D24	57465	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:352582	TBC1D24	57465	HP:0000718	Aggressive behavior
ORPHA:352582	TBC1D24	57465	HP:0001336	Myoclonus
ORPHA:352582	TBC1D24	57465	HP:0002376	Developmental regression
ORPHA:352582	TBC1D24	57465	HP:0002123	Generalized myoclonic seizures
ORPHA:99940	HSPB1	3315	HP:0007340	Lower limb muscle weakness
ORPHA:99940	HSPB1	3315	HP:0009129	Upper limb amyotrophy
ORPHA:99940	HSPB1	3315	HP:0003444	EMG: chronic denervation signs
ORPHA:99940	HSPB1	3315	HP:0010829	Impaired temperature sensation
ORPHA:99940	HSPB1	3315	HP:0001762	Talipes equinovarus
ORPHA:99940	HSPB1	3315	HP:0007289	Limb fasciculations
ORPHA:99940	HSPB1	3315	HP:0003376	Steppage gait
ORPHA:99940	HSPB1	3315	HP:0007328	Impaired pain sensation
ORPHA:99940	HSPB1	3315	HP:0003477	Peripheral axonal neuropathy
ORPHA:99940	HSPB1	3315	HP:0008944	Distal lower limb amyotrophy
ORPHA:99940	HSPB1	3315	HP:0001315	Reduced tendon reflexes
OMIM:130600	SPTA1	6708	HP:0000006	Autosomal dominant inheritance
OMIM:130600	SPTA1	6708	HP:0004445	Elliptocytosis
OMIM:130600	SPTA1	6708	HP:0001425	Heterogeneous
ORPHA:3301	WNT3	7473	HP:0000347	Micrognathia
ORPHA:3301	WNT3	7473	HP:0003057	Tetraamelia
ORPHA:3301	WNT3	7473	HP:0000003	Multicystic kidney dysplasia
ORPHA:3301	WNT3	7473	HP:0100569	Abnormal vertebral ossification
ORPHA:3301	WNT3	7473	HP:0009103	Aplasia/Hypoplasia involving the pelvis
ORPHA:3301	WNT3	7473	HP:0100842	Septo-optic dysplasia
ORPHA:3301	WNT3	7473	HP:0001274	Agenesis of corpus callosum
ORPHA:3301	WNT3	7473	HP:0000148	Vaginal atresia
ORPHA:3301	WNT3	7473	HP:0002023	Anal atresia
ORPHA:3301	WNT3	7473	HP:0000028	Cryptorchidism
ORPHA:3301	WNT3	7473	HP:0000568	Microphthalmia
ORPHA:3301	WNT3	7473	HP:0000482	Microcornea
ORPHA:3301	WNT3	7473	HP:0000921	Missing ribs
ORPHA:3301	WNT3	7473	HP:0000202	Oral cleft
ORPHA:3301	WNT3	7473	HP:0000238	Hydrocephalus
ORPHA:3301	WNT3	7473	HP:0008551	Microtia
ORPHA:3301	WNT3	7473	HP:0000648	Optic atrophy
ORPHA:3301	WNT3	7473	HP:0002777	Tracheal stenosis
ORPHA:3301	WNT3	7473	HP:0000518	Cataract
ORPHA:3301	WNT3	7473	HP:0000160	Narrow mouth
ORPHA:3301	WNT3	7473	HP:0001600	Abnormality of the larynx
ORPHA:3301	WNT3	7473	HP:0002101	Abnormal lung lobation
ORPHA:3301	WNT3	7473	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:3301	WNT3	7473	HP:0000612	Iris coloboma
ORPHA:3301	WNT3	7473	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHA:3301	WNT3	7473	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:3301	WNT3	7473	HP:0001561	Polyhydramnios
OMIM:228550	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:228550	PDGFRB	5159	HP:0010614	Fibroma
OMIM:228550	PDGFRB	5159	HP:0003549	Abnormality of connective tissue
OMIM:610227	ZNF750	79755	HP:0000962	Hyperkeratosis
OMIM:610227	ZNF750	79755	HP:0000006	Autosomal dominant inheritance
OMIM:610227	ZNF750	79755	HP:0001051	Seborrheic dermatitis
OMIM:615723	STAG3	10734	HP:0000837	Increased circulating gonadotropin level
OMIM:615723	STAG3	10734	HP:0000786	Primary amenorrhea
OMIM:615723	STAG3	10734	HP:0000007	Autosomal recessive inheritance
OMIM:615723	STAG3	10734	HP:0008209	Premature ovarian insufficiency
OMIM:220100	SLC7A9	11136	HP:0003532	Ornithinuria
OMIM:220100	SLC7A9	11136	HP:0000707	Abnormality of the nervous system
OMIM:220100	SLC7A9	11136	HP:0003268	Argininuria
OMIM:220100	SLC7A9	11136	HP:0000010	Recurrent urinary tract infections
OMIM:220100	SLC7A9	11136	HP:0003828	Variable expressivity
OMIM:220100	SLC7A9	11136	HP:0003297	Hyperlysinuria
OMIM:220100	SLC7A9	11136	HP:0000007	Autosomal recessive inheritance
OMIM:220100	SLC7A9	11136	HP:0000006	Autosomal dominant inheritance
OMIM:220100	SLC7A9	11136	HP:0003131	Cystinuria
OMIM:220100	SLC7A9	11136	HP:0000083	Renal insufficiency
OMIM:220100	SLC7A9	11136	HP:0000787	Nephrolithiasis
OMIM:220100	SLC3A1	6519	HP:0003532	Ornithinuria
OMIM:220100	SLC3A1	6519	HP:0000707	Abnormality of the nervous system
OMIM:220100	SLC3A1	6519	HP:0003268	Argininuria
OMIM:220100	SLC3A1	6519	HP:0000010	Recurrent urinary tract infections
OMIM:220100	SLC3A1	6519	HP:0003828	Variable expressivity
OMIM:220100	SLC3A1	6519	HP:0003297	Hyperlysinuria
OMIM:220100	SLC3A1	6519	HP:0000007	Autosomal recessive inheritance
OMIM:220100	SLC3A1	6519	HP:0000006	Autosomal dominant inheritance
OMIM:220100	SLC3A1	6519	HP:0003131	Cystinuria
OMIM:220100	SLC3A1	6519	HP:0000083	Renal insufficiency
OMIM:220100	SLC3A1	6519	HP:0000787	Nephrolithiasis
OMIM:193700	MYH3	4621	HP:0003298	Spina bifida occulta
OMIM:193700	MYH3	4621	HP:0002751	Kyphoscoliosis
OMIM:193700	MYH3	4621	HP:0003196	Short nose
OMIM:193700	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:193700	MYH3	4621	HP:0011824	Chin with H-shaped crease
OMIM:193700	MYH3	4621	HP:0000430	Underdeveloped nasal alae
OMIM:193700	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:193700	MYH3	4621	HP:0002827	Hip dislocation
OMIM:193700	MYH3	4621	HP:0001181	Adducted thumb
OMIM:193700	MYH3	4621	HP:0001611	Nasal speech
OMIM:193700	MYH3	4621	HP:0000272	Malar flattening
OMIM:193700	MYH3	4621	HP:0012385	Camptodactyly
OMIM:193700	MYH3	4621	HP:0001623	Breech presentation
OMIM:193700	MYH3	4621	HP:0000252	Microcephaly
OMIM:193700	MYH3	4621	HP:0001250	Seizures
OMIM:193700	MYH3	4621	HP:0000298	Mask-like facies
OMIM:193700	MYH3	4621	HP:0000218	High palate
OMIM:193700	MYH3	4621	HP:0000343	Long philtrum
OMIM:193700	MYH3	4621	HP:0005830	Flexion contracture of toe
OMIM:193700	MYH3	4621	HP:0000506	Telecanthus
OMIM:193700	MYH3	4621	HP:0001272	Cerebellar atrophy
OMIM:193700	MYH3	4621	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:193700	MYH3	4621	HP:0000286	Epicanthus
OMIM:193700	MYH3	4621	HP:0002365	Hypoplasia of the brainstem
OMIM:193700	MYH3	4621	HP:0008897	Postnatal growth retardation
OMIM:193700	MYH3	4621	HP:0000581	Blepharophimosis
OMIM:193700	MYH3	4621	HP:0009473	Joint contracture of the hand
OMIM:193700	MYH3	4621	HP:0000470	Short neck
OMIM:193700	MYH3	4621	HP:0001324	Muscle weakness
OMIM:193700	MYH3	4621	HP:0000023	Inguinal hernia
OMIM:193700	MYH3	4621	HP:0001508	Failure to thrive
OMIM:193700	MYH3	4621	HP:0003273	Hip contracture
OMIM:193700	MYH3	4621	HP:0000951	Abnormality of the skin
OMIM:193700	MYH3	4621	HP:0000160	Narrow mouth
OMIM:193700	MYH3	4621	HP:0003044	Shoulder flexion contracture
OMIM:193700	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:193700	MYH3	4621	HP:0000028	Cryptorchidism
OMIM:193700	MYH3	4621	HP:0000486	Strabismus
OMIM:193700	MYH3	4621	HP:0002047	Malignant hyperthermia
OMIM:193700	MYH3	4621	HP:0000007	Autosomal recessive inheritance
OMIM:193700	MYH3	4621	HP:0010751	Dimple chin
OMIM:193700	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:193700	MYH3	4621	HP:0006958	Abnormal auditory evoked potentials
OMIM:193700	MYH3	4621	HP:0000431	Wide nasal bridge
OMIM:193700	MYH3	4621	HP:0001518	Small for gestational age
OMIM:193700	MYH3	4621	HP:0000303	Mandibular prognathia
OMIM:193700	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:193700	MYH3	4621	HP:0012368	Flat face
OMIM:193700	MYH3	4621	HP:0000346	Whistling appearance
OMIM:193700	MYH3	4621	HP:0011220	Prominent forehead
OMIM:193700	MYH3	4621	HP:0001945	Fever
OMIM:193700	MYH3	4621	HP:0000490	Deeply set eye
OMIM:193700	MYH3	4621	HP:0000508	Ptosis
OMIM:605041	CYLD	1540	HP:0003581	Adult onset
OMIM:605041	CYLD	1540	HP:0002664	Neoplasm
OMIM:605041	CYLD	1540	HP:0000006	Autosomal dominant inheritance
OMIM:605041	CYLD	1540	HP:0001056	Milia
OMIM:615471	FBXL4	26235	HP:0000047	Hypospadias
OMIM:615471	FBXL4	26235	HP:0001263	Global developmental delay
OMIM:615471	FBXL4	26235	HP:0002020	Gastroesophageal reflux
OMIM:615471	FBXL4	26235	HP:0200125	Mitochondrial respiratory chain defects
OMIM:615471	FBXL4	26235	HP:0001250	Seizures
OMIM:615471	FBXL4	26235	HP:0003348	Hyperalaninemia
OMIM:615471	FBXL4	26235	HP:0012448	Delayed myelination
OMIM:615471	FBXL4	26235	HP:0001518	Small for gestational age
OMIM:615471	FBXL4	26235	HP:0000232	Everted lower lip vermilion
OMIM:615471	FBXL4	26235	HP:0000494	Downslanted palpebral fissures
OMIM:615471	FBXL4	26235	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615471	FBXL4	26235	HP:0002015	Dysphagia
OMIM:615471	FBXL4	26235	HP:0003202	Skeletal muscle atrophy
OMIM:615471	FBXL4	26235	HP:0002151	Increased serum lactate
OMIM:615471	FBXL4	26235	HP:0000574	Thick eyebrow
OMIM:615471	FBXL4	26235	HP:0001290	Generalized hypotonia
OMIM:615471	FBXL4	26235	HP:0001510	Growth delay
OMIM:615471	FBXL4	26235	HP:0000007	Autosomal recessive inheritance
OMIM:615471	FBXL4	26235	HP:0003812	Phenotypic variability
OMIM:615471	FBXL4	26235	HP:0011120	Concave nasal ridge
OMIM:615471	FBXL4	26235	HP:0002415	Leukodystrophy
OMIM:615471	FBXL4	26235	HP:0002059	Cerebral atrophy
OMIM:615471	FBXL4	26235	HP:0001298	Encephalopathy
OMIM:615471	FBXL4	26235	HP:0000286	Epicanthus
OMIM:615471	FBXL4	26235	HP:0000252	Microcephaly
OMIM:615471	FBXL4	26235	HP:0000275	Narrow face
OMIM:615471	FBXL4	26235	HP:0003128	Lactic acidosis
OMIM:615471	FBXL4	26235	HP:0000411	Protruding ear
OMIM:615471	FBXL4	26235	HP:0001508	Failure to thrive
OMIM:613647	AP5Z1	9907	HP:0001263	Global developmental delay
OMIM:613647	AP5Z1	9907	HP:0002136	Broad-based gait
OMIM:613647	AP5Z1	9907	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613647	AP5Z1	9907	HP:0001300	Parkinsonism
OMIM:613647	AP5Z1	9907	HP:0007340	Lower limb muscle weakness
OMIM:613647	AP5Z1	9907	HP:0001310	Dysmetria
OMIM:613647	AP5Z1	9907	HP:0000007	Autosomal recessive inheritance
OMIM:613647	AP5Z1	9907	HP:0000020	Urinary incontinence
OMIM:613647	AP5Z1	9907	HP:0002064	Spastic gait
OMIM:613647	AP5Z1	9907	HP:0003676	Progressive
OMIM:613647	AP5Z1	9907	HP:0009830	Peripheral neuropathy
OMIM:613647	AP5Z1	9907	HP:0001258	Spastic paraplegia
OMIM:613647	AP5Z1	9907	HP:0000488	Retinopathy
OMIM:613647	AP5Z1	9907	HP:0001268	Mental deterioration
OMIM:613647	AP5Z1	9907	HP:0002518	Abnormality of the periventricular white matter
OMIM:203400	CYP11B2	1585	HP:0003623	Neonatal onset
OMIM:203400	CYP11B2	1585	HP:0002153	Hyperkalemia
OMIM:203400	CYP11B2	1585	HP:0001954	Episodic fever
OMIM:203400	CYP11B2	1585	HP:0004319	Decreased circulating aldosterone level
OMIM:203400	CYP11B2	1585	HP:0000007	Autosomal recessive inheritance
OMIM:203400	CYP11B2	1585	HP:0002902	Hyponatremia
OMIM:203400	CYP11B2	1585	HP:0008872	Feeding difficulties in infancy
OMIM:203400	CYP11B2	1585	HP:0001510	Growth delay
OMIM:203400	CYP11B2	1585	HP:0000127	Renal salt wasting
OMIM:203400	CYP11B2	1585	HP:0002615	Hypotension
OMIM:203400	CYP11B2	1585	HP:0000848	Increased circulating renin level
OMIM:203400	CYP11B2	1585	HP:0002013	Vomiting
OMIM:203400	CYP11B2	1585	HP:0001944	Dehydration
OMIM:203400	CYP11B2	1585	HP:0001508	Failure to thrive
OMIM:278720	XPC	7508	HP:0000509	Conjunctivitis
OMIM:278720	XPC	7508	HP:0001010	Hypopigmentation of the skin
OMIM:278720	XPC	7508	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278720	XPC	7508	HP:0012056	Cutaneous melanoma
OMIM:278720	XPC	7508	HP:0011463	Childhood onset
OMIM:278720	XPC	7508	HP:0000656	Ectropion
OMIM:278720	XPC	7508	HP:0000992	Cutaneous photosensitivity
OMIM:278720	XPC	7508	HP:0006739	Squamous cell carcinoma of the skin
OMIM:278720	XPC	7508	HP:0000621	Entropion
OMIM:278720	XPC	7508	HP:0000613	Photophobia
OMIM:278720	XPC	7508	HP:0001029	Poikiloderma
OMIM:278720	XPC	7508	HP:0000007	Autosomal recessive inheritance
OMIM:278720	XPC	7508	HP:0000491	Keratitis
OMIM:278720	XPC	7508	HP:0002671	Basal cell carcinoma
OMIM:278720	XPC	7508	HP:0001009	Telangiectasia
OMIM:278720	XPC	7508	HP:0004334	Dermal atrophy
OMIM:213700	CYP27A1	1593	HP:0001249	Intellectual disability
OMIM:213700	CYP27A1	1593	HP:0003107	Abnormality of cholesterol metabolism
OMIM:213700	CYP27A1	1593	HP:0007024	Pseudobulbar paralysis
OMIM:213700	CYP27A1	1593	HP:0100291	Abnormality of central somatosensory evoked potentials
OMIM:213700	CYP27A1	1593	HP:0001081	Cholelithiasis
OMIM:213700	CYP27A1	1593	HP:0007256	Abnormal pyramidal signs
OMIM:213700	CYP27A1	1593	HP:0002059	Cerebral atrophy
OMIM:213700	CYP27A1	1593	HP:0001250	Seizures
OMIM:213700	CYP27A1	1593	HP:0003482	EMG: axonal abnormality
OMIM:213700	CYP27A1	1593	HP:0002014	Diarrhea
OMIM:213700	CYP27A1	1593	HP:0001114	Xanthelasma
OMIM:213700	CYP27A1	1593	HP:0001658	Myocardial infarction
OMIM:213700	CYP27A1	1593	HP:0000746	Delusions
OMIM:213700	CYP27A1	1593	HP:0010845	EEG with generalized slow activity
OMIM:213700	CYP27A1	1593	HP:0000518	Cataract
OMIM:213700	CYP27A1	1593	HP:0001257	Spasticity
OMIM:213700	CYP27A1	1593	HP:0010874	Tendon xanthomatosis
OMIM:213700	CYP27A1	1593	HP:0009830	Peripheral neuropathy
OMIM:213700	CYP27A1	1593	HP:0000007	Autosomal recessive inheritance
OMIM:213700	CYP27A1	1593	HP:0000543	Optic disc pallor
OMIM:213700	CYP27A1	1593	HP:0000939	Osteoporosis
OMIM:213700	CYP27A1	1593	HP:0001272	Cerebellar atrophy
OMIM:213700	CYP27A1	1593	HP:0000726	Dementia
OMIM:213700	CYP27A1	1593	HP:0002093	Respiratory insufficiency
OMIM:213700	CYP27A1	1593	HP:0002518	Abnormality of the periventricular white matter
OMIM:213700	CYP27A1	1593	HP:0100321	Abnormality of the dentate nucleus
OMIM:213700	CYP27A1	1593	HP:0001251	Ataxia
OMIM:213700	CYP27A1	1593	HP:0001681	Angina pectoris
OMIM:213700	CYP27A1	1593	HP:0000738	Hallucinations
OMIM:607039	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:607039	OTOA	146183	HP:0000407	Sensorineural hearing impairment
ORPHA:618	ACD	65057	HP:0000958	Dry skin
ORPHA:618	ACD	65057	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	ACD	65057	HP:0001480	Freckling
ORPHA:618	ACD	65057	HP:0003764	Nevus
ORPHA:618	ACD	65057	HP:0002861	Melanoma
ORPHA:618	ACD	65057	HP:0001595	Abnormality of the hair
ORPHA:618	TERF2IP	54386	HP:0000958	Dry skin
ORPHA:618	TERF2IP	54386	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	TERF2IP	54386	HP:0001480	Freckling
ORPHA:618	TERF2IP	54386	HP:0003764	Nevus
ORPHA:618	TERF2IP	54386	HP:0002861	Melanoma
ORPHA:618	TERF2IP	54386	HP:0001595	Abnormality of the hair
ORPHA:618	CDKN2A	1029	HP:0000958	Dry skin
ORPHA:618	CDKN2A	1029	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	CDKN2A	1029	HP:0001480	Freckling
ORPHA:618	CDKN2A	1029	HP:0003764	Nevus
ORPHA:618	CDKN2A	1029	HP:0002861	Melanoma
ORPHA:618	CDKN2A	1029	HP:0001595	Abnormality of the hair
ORPHA:618	CDKN2B	1030	HP:0000958	Dry skin
ORPHA:618	CDKN2B	1030	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	CDKN2B	1030	HP:0001480	Freckling
ORPHA:618	CDKN2B	1030	HP:0003764	Nevus
ORPHA:618	CDKN2B	1030	HP:0002861	Melanoma
ORPHA:618	CDKN2B	1030	HP:0001595	Abnormality of the hair
ORPHA:618	TERT	7015	HP:0000958	Dry skin
ORPHA:618	TERT	7015	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	TERT	7015	HP:0001480	Freckling
ORPHA:618	TERT	7015	HP:0003764	Nevus
ORPHA:618	TERT	7015	HP:0002861	Melanoma
ORPHA:618	TERT	7015	HP:0001595	Abnormality of the hair
ORPHA:618	CDKN2D	1032	HP:0000958	Dry skin
ORPHA:618	CDKN2D	1032	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	CDKN2D	1032	HP:0001480	Freckling
ORPHA:618	CDKN2D	1032	HP:0003764	Nevus
ORPHA:618	CDKN2D	1032	HP:0002861	Melanoma
ORPHA:618	CDKN2D	1032	HP:0001595	Abnormality of the hair
ORPHA:618	POT1	25913	HP:0000958	Dry skin
ORPHA:618	POT1	25913	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	POT1	25913	HP:0001480	Freckling
ORPHA:618	POT1	25913	HP:0003764	Nevus
ORPHA:618	POT1	25913	HP:0002861	Melanoma
ORPHA:618	POT1	25913	HP:0001595	Abnormality of the hair
ORPHA:618	BAP1	8314	HP:0000958	Dry skin
ORPHA:618	BAP1	8314	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	BAP1	8314	HP:0001480	Freckling
ORPHA:618	BAP1	8314	HP:0003764	Nevus
ORPHA:618	BAP1	8314	HP:0002861	Melanoma
ORPHA:618	BAP1	8314	HP:0001595	Abnormality of the hair
ORPHA:618	CDK4	1019	HP:0000958	Dry skin
ORPHA:618	CDK4	1019	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	CDK4	1019	HP:0001480	Freckling
ORPHA:618	CDK4	1019	HP:0003764	Nevus
ORPHA:618	CDK4	1019	HP:0002861	Melanoma
ORPHA:618	CDK4	1019	HP:0001595	Abnormality of the hair
ORPHA:618	MC1R	4157	HP:0000958	Dry skin
ORPHA:618	MC1R	4157	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	MC1R	4157	HP:0001480	Freckling
ORPHA:618	MC1R	4157	HP:0003764	Nevus
ORPHA:618	MC1R	4157	HP:0002861	Melanoma
ORPHA:618	MC1R	4157	HP:0001595	Abnormality of the hair
ORPHA:618	MITF	4286	HP:0000958	Dry skin
ORPHA:618	MITF	4286	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	MITF	4286	HP:0001480	Freckling
ORPHA:618	MITF	4286	HP:0003764	Nevus
ORPHA:618	MITF	4286	HP:0002861	Melanoma
ORPHA:618	MITF	4286	HP:0001595	Abnormality of the hair
ORPHA:618	MGMT	4255	HP:0000958	Dry skin
ORPHA:618	MGMT	4255	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	MGMT	4255	HP:0001480	Freckling
ORPHA:618	MGMT	4255	HP:0003764	Nevus
ORPHA:618	MGMT	4255	HP:0002861	Melanoma
ORPHA:618	MGMT	4255	HP:0001595	Abnormality of the hair
OMIM:265000	CHRNG	1146	HP:0000175	Cleft palate
OMIM:265000	CHRNG	1146	HP:0002714	Downturned corners of mouth
OMIM:265000	CHRNG	1146	HP:0000347	Micrognathia
OMIM:265000	CHRNG	1146	HP:0002650	Scoliosis
OMIM:265000	CHRNG	1146	HP:0001537	Umbilical hernia
OMIM:265000	CHRNG	1146	HP:0005617	Bilateral camptodactyly
OMIM:265000	CHRNG	1146	HP:0009760	Antecubital pterygium
OMIM:265000	CHRNG	1146	HP:0004322	Short stature
OMIM:265000	CHRNG	1146	HP:0000405	Conductive hearing impairment
OMIM:265000	CHRNG	1146	HP:0000343	Long philtrum
OMIM:265000	CHRNG	1146	HP:0000007	Autosomal recessive inheritance
OMIM:265000	CHRNG	1146	HP:0001166	Arachnodactyly
OMIM:265000	CHRNG	1146	HP:0000160	Narrow mouth
OMIM:265000	CHRNG	1146	HP:0001884	Talipes calcaneovalgus
OMIM:265000	CHRNG	1146	HP:0009756	Popliteal pterygium
OMIM:265000	CHRNG	1146	HP:0008729	Absence of labia majora
OMIM:265000	CHRNG	1146	HP:0000494	Downslanted palpebral fissures
OMIM:265000	CHRNG	1146	HP:0000023	Inguinal hernia
OMIM:265000	CHRNG	1146	HP:0003083	Dislocated radial head
OMIM:265000	CHRNG	1146	HP:0000508	Ptosis
OMIM:265000	CHRNG	1146	HP:0006446	Dysplastic patella
OMIM:265000	CHRNG	1146	HP:0009757	Intercrural pterygium
OMIM:265000	CHRNG	1146	HP:0000369	Low-set ears
OMIM:265000	CHRNG	1146	HP:0000890	Long clavicles
OMIM:265000	CHRNG	1146	HP:0000316	Hypertelorism
OMIM:265000	CHRNG	1146	HP:0009759	Neck pterygia
OMIM:265000	CHRNG	1146	HP:0001060	Axillary pterygia
OMIM:265000	CHRNG	1146	HP:0000218	High palate
OMIM:265000	CHRNG	1146	HP:0000276	Long face
OMIM:265000	CHRNG	1146	HP:0004459	Exostosis of the external auditory canal
OMIM:265000	CHRNG	1146	HP:0009110	Diaphragmatic eventration
OMIM:265000	CHRNG	1146	HP:0001159	Syndactyly
OMIM:265000	CHRNG	1146	HP:0002827	Hip dislocation
OMIM:265000	CHRNG	1146	HP:0000047	Hypospadias
OMIM:265000	CHRNG	1146	HP:0001836	Camptodactyly of toe
OMIM:265000	CHRNG	1146	HP:0000286	Epicanthus
OMIM:265000	CHRNG	1146	HP:0002089	Pulmonary hypoplasia
OMIM:265000	CHRNG	1146	HP:0000464	Abnormality of the neck
OMIM:265000	CHRNG	1146	HP:0001762	Talipes equinovarus
OMIM:265000	CHRNG	1146	HP:0002643	Neonatal respiratory distress
OMIM:265000	CHRNG	1146	HP:0002808	Kyphosis
OMIM:265000	CHRNG	1146	HP:0001838	Rocker bottom foot
OMIM:265000	CHRNG	1146	HP:0000028	Cryptorchidism
OMIM:265000	CHRNG	1146	HP:0006443	Patellar aplasia
OMIM:265000	CHRNG	1146	HP:0009761	Anterior clefting of vertebral bodies
OMIM:265000	CHRNG	1146	HP:0002557	Hypoplastic nipples
OMIM:265000	CHRNG	1146	HP:0000776	Congenital diaphragmatic hernia
OMIM:265000	CHRNG	1146	HP:0000902	Rib fusion
OMIM:265000	CHRNG	1146	HP:0001558	Decreased fetal movement
OMIM:265000	CHRNG	1146	HP:0002949	Fused cervical vertebrae
OMIM:265000	CHRNG	1146	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614800	NBAS	51594	HP:0000973	Cutis laxa
OMIM:614800	NBAS	51594	HP:0001852	Sandal gap
OMIM:614800	NBAS	51594	HP:0200068	Nonprogressive visual loss
OMIM:614800	NBAS	51594	HP:0001156	Brachydactyly
OMIM:614800	NBAS	51594	HP:0007663	Reduced visual acuity
OMIM:614800	NBAS	51594	HP:0008897	Postnatal growth retardation
OMIM:614800	NBAS	51594	HP:0000248	Brachycephaly
OMIM:614800	NBAS	51594	HP:0000233	Thin vermilion border
OMIM:614800	NBAS	51594	HP:0000648	Optic atrophy
OMIM:614800	NBAS	51594	HP:0000286	Epicanthus
OMIM:614800	NBAS	51594	HP:0000324	Facial asymmetry
OMIM:614800	NBAS	51594	HP:0002213	Fine hair
OMIM:614800	NBAS	51594	HP:0000343	Long philtrum
OMIM:614800	NBAS	51594	HP:0002057	Prominent glabella
OMIM:614800	NBAS	51594	HP:0001252	Muscular hypotonia
OMIM:614800	NBAS	51594	HP:0000341	Narrow forehead
OMIM:614800	NBAS	51594	HP:0000470	Short neck
OMIM:614800	NBAS	51594	HP:0000276	Long face
OMIM:614800	NBAS	51594	HP:0000574	Thick eyebrow
OMIM:614800	NBAS	51594	HP:0000520	Proptosis
OMIM:614800	NBAS	51594	HP:0004322	Short stature
OMIM:614800	NBAS	51594	HP:0000007	Autosomal recessive inheritance
OMIM:614800	NBAS	51594	HP:0002983	Micromelia
OMIM:615179	LRMDA	83938	HP:0000007	Autosomal recessive inheritance
OMIM:615179	LRMDA	83938	HP:0001022	Albinism
OMIM:615179	LRMDA	83938	HP:0000613	Photophobia
OMIM:615179	LRMDA	83938	HP:0000639	Nystagmus
OMIM:616462	POLR1A	25885	HP:0002980	Femoral bowing
OMIM:616462	POLR1A	25885	HP:0000252	Microcephaly
OMIM:616462	POLR1A	25885	HP:0011800	Midface retrusion
OMIM:616462	POLR1A	25885	HP:0008551	Microtia
OMIM:616462	POLR1A	25885	HP:0001643	Patent ductus arteriosus
OMIM:616462	POLR1A	25885	HP:0008807	Acetabular dysplasia
OMIM:616462	POLR1A	25885	HP:0000175	Cleft palate
OMIM:616462	POLR1A	25885	HP:0000327	Hypoplasia of the maxilla
OMIM:616462	POLR1A	25885	HP:0000494	Downslanted palpebral fissures
OMIM:616462	POLR1A	25885	HP:0000006	Autosomal dominant inheritance
OMIM:616462	POLR1A	25885	HP:0000453	Choanal atresia
OMIM:616462	POLR1A	25885	HP:0000347	Micrognathia
OMIM:616462	POLR1A	25885	HP:0000400	Macrotia
OMIM:616353	PARN	5073	HP:0001508	Failure to thrive
OMIM:616353	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:616353	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:616353	PARN	5073	HP:0001596	Alopecia
OMIM:616353	PARN	5073	HP:0000252	Microcephaly
OMIM:616353	PARN	5073	HP:0001263	Global developmental delay
OMIM:616353	PARN	5073	HP:0008070	Sparse hair
OMIM:616353	PARN	5073	HP:0001511	Intrauterine growth retardation
OMIM:616353	PARN	5073	HP:0003828	Variable expressivity
OMIM:616353	PARN	5073	HP:0000670	Carious teeth
OMIM:616353	PARN	5073	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	PARN	5073	HP:0003593	Infantile onset
OMIM:616353	PARN	5073	HP:0008404	Nail dystrophy
OMIM:114900	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:114900	SDHD	6392	HP:0006723	Intestinal carcinoid
OMIM:615726	KRT6A	3853	HP:0000221	Furrowed tongue
OMIM:615726	KRT6A	3853	HP:0200040	Epidermoid cyst
OMIM:615726	KRT6A	3853	HP:0008401	Onychogryposis of toenails
OMIM:615726	KRT6A	3853	HP:0000975	Hyperhidrosis
OMIM:615726	KRT6A	3853	HP:0002745	Oral leukoplakia
OMIM:615726	KRT6A	3853	HP:0007556	Plantar hyperkeratosis
OMIM:615726	KRT6A	3853	HP:0010765	Palmar hyperkeratosis
OMIM:615726	KRT6A	3853	HP:0040181	Chapped lip
OMIM:615726	KRT6A	3853	HP:0008404	Nail dystrophy
OMIM:615726	KRT6A	3853	HP:0000230	Gingivitis
OMIM:615726	KRT6A	3853	HP:0000982	Palmoplantar keratoderma
OMIM:610644	RSPO1	284654	HP:0001792	Small nail
OMIM:610644	RSPO1	284654	HP:0007410	Palmoplantar hyperhidrosis
OMIM:610644	RSPO1	284654	HP:0011838	Sclerodactyly
OMIM:610644	RSPO1	284654	HP:0012118	Laryngeal carcinoma
OMIM:610644	RSPO1	284654	HP:0008734	Decreased testicular size
OMIM:610644	RSPO1	284654	HP:0003124	Hypercholesterolemia
OMIM:610644	RSPO1	284654	HP:0025080	Orthokeratotic hyperkeratosis
OMIM:610644	RSPO1	284654	HP:0012861	Ovotestis
OMIM:610644	RSPO1	284654	HP:0008665	Clitoral hypertrophy
OMIM:610644	RSPO1	284654	HP:0000047	Hypospadias
OMIM:610644	RSPO1	284654	HP:0000771	Gynecomastia
OMIM:610644	RSPO1	284654	HP:0002155	Hypertriglyceridemia
OMIM:610644	RSPO1	284654	HP:0006357	Premature loss of permanent teeth
OMIM:610644	RSPO1	284654	HP:0000007	Autosomal recessive inheritance
OMIM:610644	RSPO1	284654	HP:0008404	Nail dystrophy
OMIM:610644	RSPO1	284654	HP:0000982	Palmoplantar keratoderma
ORPHA:79279	NAGA	4668	HP:0001324	Muscle weakness
ORPHA:79279	NAGA	4668	HP:0000365	Hearing impairment
ORPHA:79279	NAGA	4668	HP:0003700	Generalized amyotrophy
ORPHA:79279	NAGA	4668	HP:0001250	Seizures
ORPHA:79279	NAGA	4668	HP:0000962	Hyperkeratosis
ORPHA:79279	NAGA	4668	HP:0100585	Telangiectasia of the skin
ORPHA:79279	NAGA	4668	HP:0001263	Global developmental delay
ORPHA:79279	NAGA	4668	HP:0000486	Strabismus
ORPHA:79279	NAGA	4668	HP:0001252	Muscular hypotonia
ORPHA:79279	NAGA	4668	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:79279	NAGA	4668	HP:0002321	Vertigo
ORPHA:79279	NAGA	4668	HP:0000639	Nystagmus
ORPHA:79279	NAGA	4668	HP:0004374	Hemiplegia/hemiparesis
ORPHA:79279	NAGA	4668	HP:0001336	Myoclonus
ORPHA:79279	NAGA	4668	HP:0002363	Abnormality of brainstem morphology
ORPHA:79279	NAGA	4668	HP:0000717	Autism
ORPHA:79279	NAGA	4668	HP:0000648	Optic atrophy
ORPHA:79279	NAGA	4668	HP:0002376	Developmental regression
ORPHA:79279	NAGA	4668	HP:0007256	Abnormal pyramidal signs
ORPHA:79279	NAGA	4668	HP:0001257	Spasticity
ORPHA:79279	NAGA	4668	HP:0100704	Cortical visual impairment
ORPHA:79279	NAGA	4668	HP:0010864	Intellectual disability, severe
ORPHA:337	ACVR1	90	HP:0003468	Abnormal vertebral morphology
ORPHA:337	ACVR1	90	HP:0003306	Spinal rigidity
ORPHA:337	ACVR1	90	HP:0004209	Clinodactyly of the 5th finger
ORPHA:337	ACVR1	90	HP:0001482	Subcutaneous nodule
ORPHA:337	ACVR1	90	HP:0001596	Alopecia
ORPHA:337	ACVR1	90	HP:0010109	Short hallux
ORPHA:337	ACVR1	90	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux
ORPHA:337	ACVR1	90	HP:0011989	Ectopic ossification in ligament tissue
ORPHA:337	ACVR1	90	HP:0002093	Respiratory insufficiency
ORPHA:337	ACVR1	90	HP:0010054	Abnormality of the first metatarsal bone
ORPHA:337	ACVR1	90	HP:0000365	Hearing impairment
ORPHA:337	ACVR1	90	HP:0001376	Limitation of joint mobility
ORPHA:337	ACVR1	90	HP:0011987	Ectopic ossification in muscle tissue
OMIM:613756	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:606243	ASPSCR1	79058	HP:0012218	Alveolar soft part sarcoma
OMIM:606243	ASPSCR1	79058	HP:0001428	Somatic mutation
OMIM:617341	STN1	79991	HP:0001876	Pancytopenia
OMIM:617341	STN1	79991	HP:0002239	Gastrointestinal hemorrhage
OMIM:617341	STN1	79991	HP:0001332	Dystonia
OMIM:617341	STN1	79991	HP:0000007	Autosomal recessive inheritance
OMIM:617341	STN1	79991	HP:0000938	Osteopenia
OMIM:617341	STN1	79991	HP:0002040	Esophageal varix
OMIM:617341	STN1	79991	HP:0001409	Portal hypertension
OMIM:617341	STN1	79991	HP:0002216	Premature graying of hair
OMIM:617341	STN1	79991	HP:0001257	Spasticity
OMIM:617341	STN1	79991	HP:0007763	Retinal telangiectasia
OMIM:617341	STN1	79991	HP:0001511	Intrauterine growth retardation
OMIM:617341	STN1	79991	HP:0001251	Ataxia
ORPHA:2297	INSR	3643	HP:0007440	Generalized hyperpigmentation
ORPHA:2297	INSR	3643	HP:0005616	Accelerated skeletal maturation
ORPHA:2297	INSR	3643	HP:0000823	Delayed puberty
ORPHA:2297	INSR	3643	HP:0002230	Generalized hirsutism
ORPHA:2297	INSR	3643	HP:0001482	Subcutaneous nodule
ORPHA:2297	INSR	3643	HP:0005978	Type II diabetes mellitus
ORPHA:2297	INSR	3643	HP:0000962	Hyperkeratosis
OMIM:142900	TBX5	6910	HP:0001199	Triphalangeal thumb
OMIM:142900	TBX5	6910	HP:0009777	Absent thumb
OMIM:142900	TBX5	6910	HP:0009944	Partial duplication of thumb phalanx
OMIM:142900	TBX5	6910	HP:0000006	Autosomal dominant inheritance
OMIM:142900	TBX5	6910	HP:0003468	Abnormal vertebral morphology
OMIM:142900	TBX5	6910	HP:0001191	Abnormality of the carpal bones
OMIM:142900	TBX5	6910	HP:0004383	Hypoplastic left heart
OMIM:617255	TMTC3	160418	HP:0002119	Ventriculomegaly
OMIM:617255	TMTC3	160418	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617255	TMTC3	160418	HP:0000007	Autosomal recessive inheritance
OMIM:617255	TMTC3	160418	HP:0000648	Optic atrophy
OMIM:617255	TMTC3	160418	HP:0001250	Seizures
OMIM:617255	TMTC3	160418	HP:0003593	Infantile onset
OMIM:617255	TMTC3	160418	HP:0002126	Polymicrogyria
OMIM:617255	TMTC3	160418	HP:0002365	Hypoplasia of the brainstem
OMIM:617255	TMTC3	160418	HP:0001263	Global developmental delay
OMIM:617255	TMTC3	160418	HP:0001249	Intellectual disability
OMIM:617255	TMTC3	160418	HP:0008936	Muscular hypotonia of the trunk
OMIM:176500	ITM2B	9445	HP:0002344	Progressive neurologic deterioration
OMIM:176500	ITM2B	9445	HP:0001257	Spasticity
OMIM:176500	ITM2B	9445	HP:0002063	Rigidity
OMIM:176500	ITM2B	9445	HP:0001276	Hypertonia
OMIM:176500	ITM2B	9445	HP:0001337	Tremor
OMIM:176500	ITM2B	9445	HP:0000006	Autosomal dominant inheritance
OMIM:176500	ITM2B	9445	HP:0011970	Cerebral amyloid angiopathy
OMIM:176500	ITM2B	9445	HP:0000726	Dementia
OMIM:614831	GRM1	2911	HP:0002075	Dysdiadochokinesis
OMIM:614831	GRM1	2911	HP:0001272	Cerebellar atrophy
OMIM:614831	GRM1	2911	HP:0000666	Horizontal nystagmus
OMIM:614831	GRM1	2911	HP:0000007	Autosomal recessive inheritance
OMIM:614831	GRM1	2911	HP:0000565	Esotropia
OMIM:614831	GRM1	2911	HP:0001263	Global developmental delay
OMIM:614831	GRM1	2911	HP:0006951	Retrocerebellar cyst
OMIM:614831	GRM1	2911	HP:0001260	Dysarthria
OMIM:614831	GRM1	2911	HP:0001347	Hyperreflexia
OMIM:614831	GRM1	2911	HP:0002119	Ventriculomegaly
OMIM:614831	GRM1	2911	HP:0001310	Dysmetria
OMIM:614831	GRM1	2911	HP:0004322	Short stature
OMIM:614831	GRM1	2911	HP:0007068	Inferior vermis hypoplasia
OMIM:614831	GRM1	2911	HP:0007256	Abnormal pyramidal signs
OMIM:614831	GRM1	2911	HP:0001249	Intellectual disability
OMIM:614831	GRM1	2911	HP:0001290	Generalized hypotonia
OMIM:614831	GRM1	2911	HP:0001763	Pes planus
OMIM:614831	GRM1	2911	HP:0000508	Ptosis
OMIM:614831	GRM1	2911	HP:0003677	Slow progression
OMIM:614831	GRM1	2911	HP:0001337	Tremor
OMIM:614831	GRM1	2911	HP:0003593	Infantile onset
OMIM:614831	GRM1	2911	HP:0000571	Hypometric saccades
OMIM:615415	NEK8	284086	HP:0001762	Talipes equinovarus
OMIM:615415	NEK8	284086	HP:0003577	Congenital onset
OMIM:615415	NEK8	284086	HP:0000007	Autosomal recessive inheritance
OMIM:615415	NEK8	284086	HP:0001395	Hepatic fibrosis
OMIM:615415	NEK8	284086	HP:0000800	Cystic renal dysplasia
OMIM:615415	NEK8	284086	HP:0002089	Pulmonary hypoplasia
OMIM:615415	NEK8	284086	HP:0003826	Stillbirth
OMIM:615415	NEK8	284086	HP:0001562	Oligohydramnios
OMIM:615415	NEK8	284086	HP:0001660	Truncus arteriosus
OMIM:615415	NEK8	284086	HP:0002980	Femoral bowing
OMIM:615415	NEK8	284086	HP:0000105	Enlarged kidney
OMIM:605289	TP63	8626	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	TP63	8626	HP:0003812	Phenotypic variability
OMIM:605289	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:605289	TP63	8626	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	TP63	8626	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	TP63	8626	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	TP63	8626	HP:0001199	Triphalangeal thumb
OMIM:605289	TP63	8626	HP:0001159	Syndactyly
OMIM:605289	TP63	8626	HP:0100257	Ectrodactyly
OMIM:605289	TP63	8626	HP:0001171	Split hand
ORPHA:47	BTK	695	HP:0100765	Abnormality of the tonsils
ORPHA:47	BTK	695	HP:0004322	Short stature
ORPHA:47	BTK	695	HP:0000988	Skin rash
ORPHA:47	BTK	695	HP:0001287	Meningitis
ORPHA:47	BTK	695	HP:0000246	Sinusitis
ORPHA:47	BTK	695	HP:0004432	Agammaglobulinemia
ORPHA:47	BTK	695	HP:0200042	Skin ulcer
ORPHA:47	BTK	695	HP:0001369	Arthritis
ORPHA:47	BTK	695	HP:0100658	Cellulitis
ORPHA:47	BTK	695	HP:0000407	Sensorineural hearing impairment
ORPHA:47	BTK	695	HP:0001875	Neutropenia
ORPHA:47	BTK	695	HP:0002901	Hypocalcemia
ORPHA:47	BTK	695	HP:0000509	Conjunctivitis
ORPHA:47	BTK	695	HP:0100806	Sepsis
ORPHA:47	BTK	695	HP:0000389	Chronic otitis media
ORPHA:47	BTK	695	HP:0001508	Failure to thrive
ORPHA:47	BTK	695	HP:0001945	Fever
ORPHA:47	BTK	695	HP:0000162	Glossoptosis
ORPHA:47	BTK	695	HP:0002721	Immunodeficiency
ORPHA:47	BTK	695	HP:0100838	Recurrent cutaneous abscess formation
ORPHA:47	BTK	695	HP:0002028	Chronic diarrhea
ORPHA:47	BTK	695	HP:0006532	Recurrent pneumonia
ORPHA:47	BTK	695	HP:0012378	Fatigue
OMIM:609796	TGM5	9333	HP:0010783	Erythema
OMIM:609796	TGM5	9333	HP:0000007	Autosomal recessive inheritance
OMIM:609796	TGM5	9333	HP:0008066	Abnormal blistering of the skin
OMIM:609796	TGM5	9333	HP:0040189	Scaling skin
OMIM:616342	CDK5	1020	HP:0001284	Areflexia
OMIM:616342	CDK5	1020	HP:0001339	Lissencephaly
OMIM:616342	CDK5	1020	HP:0000007	Autosomal recessive inheritance
OMIM:616342	CDK5	1020	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616342	CDK5	1020	HP:0001188	Hand clenching
OMIM:616342	CDK5	1020	HP:0000293	Full cheeks
OMIM:616342	CDK5	1020	HP:0001004	Lymphedema
OMIM:616342	CDK5	1020	HP:0003577	Congenital onset
OMIM:616342	CDK5	1020	HP:0001263	Global developmental delay
OMIM:616342	CDK5	1020	HP:0001007	Hirsutism
OMIM:616342	CDK5	1020	HP:0000470	Short neck
OMIM:616342	CDK5	1020	HP:0001274	Agenesis of corpus callosum
OMIM:616342	CDK5	1020	HP:0000347	Micrognathia
OMIM:616342	CDK5	1020	HP:0001321	Cerebellar hypoplasia
OMIM:616342	CDK5	1020	HP:0000252	Microcephaly
OMIM:607748	EPHX1	2052	HP:0000007	Autosomal recessive inheritance
OMIM:607748	EPHX1	2052	HP:0000989	Pruritus
OMIM:607748	EPHX1	2052	HP:0002570	Steatorrhea
OMIM:607748	EPHX1	2052	HP:0001508	Failure to thrive
OMIM:607748	EPHX1	2052	HP:0002748	Rickets
OMIM:607748	EPHX1	2052	HP:0012202	Increased serum bile acid concentration
OMIM:607748	EPHX1	2052	HP:0011892	Vitamin K deficiency
OMIM:607748	TJP2	9414	HP:0000007	Autosomal recessive inheritance
OMIM:607748	TJP2	9414	HP:0000989	Pruritus
OMIM:607748	TJP2	9414	HP:0002570	Steatorrhea
OMIM:607748	TJP2	9414	HP:0001508	Failure to thrive
OMIM:607748	TJP2	9414	HP:0002748	Rickets
OMIM:607748	TJP2	9414	HP:0012202	Increased serum bile acid concentration
OMIM:607748	TJP2	9414	HP:0011892	Vitamin K deficiency
OMIM:607748	BAAT	570	HP:0000007	Autosomal recessive inheritance
OMIM:607748	BAAT	570	HP:0000989	Pruritus
OMIM:607748	BAAT	570	HP:0002570	Steatorrhea
OMIM:607748	BAAT	570	HP:0001508	Failure to thrive
OMIM:607748	BAAT	570	HP:0002748	Rickets
OMIM:607748	BAAT	570	HP:0012202	Increased serum bile acid concentration
OMIM:607748	BAAT	570	HP:0011892	Vitamin K deficiency
OMIM:609923	TOPORS	10210	HP:0001123	Visual field defect
OMIM:609923	TOPORS	10210	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:609923	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:609923	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:220400	KCNQ1	3784	HP:0001425	Heterogeneous
OMIM:220400	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:220400	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:220400	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:220400	KCNQ1	3784	HP:0000007	Autosomal recessive inheritance
OMIM:220400	KCNQ1	3784	HP:0008527	Congenital sensorineural hearing impairment
OMIM:220400	KCNQ1	3784	HP:0001279	Syncope
OMIM:600882	RAB7A	7879	HP:0003376	Steppage gait
OMIM:600882	RAB7A	7879	HP:0002460	Distal muscle weakness
OMIM:600882	RAB7A	7879	HP:0001761	Pes cavus
OMIM:600882	RAB7A	7879	HP:0003378	Axonal degeneration/regeneration
OMIM:600882	RAB7A	7879	HP:0001284	Areflexia
OMIM:600882	RAB7A	7879	HP:0009027	Foot dorsiflexor weakness
OMIM:600882	RAB7A	7879	HP:0003384	Peripheral axonal atrophy
OMIM:600882	RAB7A	7879	HP:0000006	Autosomal dominant inheritance
OMIM:600882	RAB7A	7879	HP:0001886	Foot osteomyelitis
OMIM:600882	RAB7A	7879	HP:0001765	Hammertoe
OMIM:600882	RAB7A	7879	HP:0003693	Distal amyotrophy
OMIM:600882	RAB7A	7879	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:600882	RAB7A	7879	HP:0003431	Decreased motor nerve conduction velocity
OMIM:600882	RAB7A	7879	HP:0001265	Hyporeflexia
OMIM:600882	RAB7A	7879	HP:0001810	Dystrophic toenail
OMIM:600882	RAB7A	7879	HP:0001868	Autoamputation of foot
OMIM:600882	RAB7A	7879	HP:0001763	Pes planus
ORPHA:48431	CTDP1	9150	HP:0000639	Nystagmus
ORPHA:48431	CTDP1	9150	HP:0008942	Acute rhabdomyolysis
ORPHA:48431	CTDP1	9150	HP:0001256	Intellectual disability, mild
ORPHA:48431	CTDP1	9150	HP:0010620	Malar prominence
ORPHA:48431	CTDP1	9150	HP:0000939	Osteoporosis
ORPHA:48431	CTDP1	9150	HP:0001263	Global developmental delay
ORPHA:48431	CTDP1	9150	HP:0007002	Motor axonal neuropathy
ORPHA:48431	CTDP1	9150	HP:0000486	Strabismus
ORPHA:48431	CTDP1	9150	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:48431	CTDP1	9150	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:48431	CTDP1	9150	HP:0001511	Intrauterine growth retardation
ORPHA:48431	CTDP1	9150	HP:0100490	Camptodactyly of finger
ORPHA:48431	CTDP1	9150	HP:0000527	Long eyelashes
ORPHA:48431	CTDP1	9150	HP:0002080	Intention tremor
ORPHA:48431	CTDP1	9150	HP:0003401	Paresthesia
ORPHA:48431	CTDP1	9150	HP:0003319	Abnormality of the cervical spine
ORPHA:48431	CTDP1	9150	HP:0001943	Hypoglycemia
ORPHA:48431	CTDP1	9150	HP:0002120	Cerebral cortical atrophy
ORPHA:48431	CTDP1	9150	HP:0000518	Cataract
ORPHA:48431	CTDP1	9150	HP:0004322	Short stature
ORPHA:48431	CTDP1	9150	HP:0000568	Microphthalmia
ORPHA:48431	CTDP1	9150	HP:0000347	Micrognathia
ORPHA:48431	CTDP1	9150	HP:0001310	Dysmetria
OMIM:219900	CTNS	1497	HP:0001507	Growth abnormality
OMIM:219900	CTNS	1497	HP:0003621	Juvenile onset
OMIM:219900	CTNS	1497	HP:0000093	Proteinuria
OMIM:219900	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219900	CTNS	1497	HP:0000531	Corneal crystals
OMIM:219900	CTNS	1497	HP:0002748	Rickets
OMIM:219900	CTNS	1497	HP:0003358	Elevated intracellular cystine
OMIM:219900	CTNS	1497	HP:0007814	Retinal pigment epithelial mottling
OMIM:219900	CTNS	1497	HP:0000488	Retinopathy
OMIM:219900	CTNS	1497	HP:0003774	Stage 5 chronic kidney disease
OMIM:610293	PIGM	93183	HP:0001250	Seizures
OMIM:610293	PIGM	93183	HP:0001409	Portal hypertension
OMIM:610293	PIGM	93183	HP:0001744	Splenomegaly
OMIM:610293	PIGM	93183	HP:0002240	Hepatomegaly
OMIM:610293	PIGM	93183	HP:0030242	Portal vein thrombosis
OMIM:610293	PIGM	93183	HP:0000007	Autosomal recessive inheritance
OMIM:610092	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:610092	VSX2	338917	HP:0000568	Microphthalmia
OMIM:610092	VSX2	338917	HP:0000589	Coloboma
OMIM:610092	VSX2	338917	HP:0000518	Cataract
OMIM:616640	PRDM8	56978	HP:0000709	Psychosis
OMIM:616640	PRDM8	56978	HP:0002510	Spastic tetraplegia
OMIM:616640	PRDM8	56978	HP:0002300	Mutism
OMIM:616640	PRDM8	56978	HP:0000726	Dementia
OMIM:616640	PRDM8	56978	HP:0001347	Hyperreflexia
OMIM:616640	PRDM8	56978	HP:0002497	Spastic ataxia
OMIM:616640	PRDM8	56978	HP:0000007	Autosomal recessive inheritance
OMIM:616640	PRDM8	56978	HP:0003676	Progressive
OMIM:616640	PRDM8	56978	HP:0000020	Urinary incontinence
OMIM:616640	PRDM8	56978	HP:0100318	Lafora bodies
OMIM:616640	PRDM8	56978	HP:0003828	Variable expressivity
OMIM:616640	PRDM8	56978	HP:0001260	Dysarthria
OMIM:616640	PRDM8	56978	HP:0002073	Progressive cerebellar ataxia
OMIM:616640	PRDM8	56978	HP:0001336	Myoclonus
OMIM:616640	PRDM8	56978	HP:0002123	Generalized myoclonic seizures
OMIM:616640	PRDM8	56978	HP:0011999	Paranoia
OMIM:616640	PRDM8	56978	HP:0000738	Hallucinations
OMIM:614714	MVD	4597	HP:0000006	Autosomal dominant inheritance
OMIM:614714	MVD	4597	HP:0200044	Porokeratosis
OMIM:616042	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:616042	CLIC5	53405	HP:0003593	Infantile onset
OMIM:616042	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CLIC5	53405	HP:0008568	Vestibular areflexia
OMIM:248370	LMNA	4000	HP:0001371	Flexion contracture
OMIM:248370	LMNA	4000	HP:0000287	Increased facial adipose tissue
OMIM:248370	LMNA	4000	HP:0000347	Micrognathia
OMIM:248370	LMNA	4000	HP:0000678	Dental crowding
OMIM:248370	LMNA	4000	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:248370	LMNA	4000	HP:0003621	Juvenile onset
OMIM:248370	LMNA	4000	HP:0000320	Bird-like facies
OMIM:248370	LMNA	4000	HP:0002209	Sparse scalp hair
OMIM:248370	LMNA	4000	HP:0001387	Joint stiffness
OMIM:248370	LMNA	4000	HP:0003077	Hyperlipidemia
OMIM:248370	LMNA	4000	HP:0000468	Increased adipose tissue around the neck
OMIM:248370	LMNA	4000	HP:0003761	Calcinosis
OMIM:248370	LMNA	4000	HP:0000520	Proptosis
OMIM:248370	LMNA	4000	HP:0001870	Acroosteolysis of distal phalanges (feet)
OMIM:248370	LMNA	4000	HP:0003074	Hyperglycemia
OMIM:248370	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:248370	LMNA	4000	HP:0004334	Dermal atrophy
OMIM:248370	LMNA	4000	HP:0001596	Alopecia
OMIM:248370	LMNA	4000	HP:0002645	Wormian bones
OMIM:248370	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:248370	LMNA	4000	HP:0000218	High palate
OMIM:248370	LMNA	4000	HP:0000894	Short clavicles
OMIM:248370	LMNA	4000	HP:0000833	Glucose intolerance
OMIM:248370	LMNA	4000	HP:0001070	Mottled pigmentation
OMIM:248370	LMNA	4000	HP:0000270	Delayed cranial suture closure
OMIM:248370	LMNA	4000	HP:0000293	Full cheeks
OMIM:248370	LMNA	4000	HP:0008897	Postnatal growth retardation
OMIM:248370	LMNA	4000	HP:0000418	Narrow nasal ridge
OMIM:248370	LMNA	4000	HP:0000905	Progressive clavicular acroosteolysis
OMIM:248370	LMNA	4000	HP:0009125	Lipodystrophy
OMIM:248370	LMNA	4000	HP:0000685	Hypoplasia of teeth
OMIM:248370	LMNA	4000	HP:0001425	Heterogeneous
OMIM:248370	LMNA	4000	HP:0009839	Osteolytic defects of the distal phalanges of the hand
OMIM:248370	LMNA	4000	HP:0000842	Hyperinsulinemia
OMIM:248370	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:248370	LMNA	4000	HP:0006480	Premature loss of teeth
ORPHA:139471	BMP4	652	HP:0000482	Microcornea
ORPHA:139471	BMP4	652	HP:0000518	Cataract
ORPHA:139471	BMP4	652	HP:0001263	Global developmental delay
ORPHA:139471	BMP4	652	HP:0000567	Chorioretinal coloboma
ORPHA:139471	BMP4	652	HP:0000568	Microphthalmia
ORPHA:139471	BMP4	652	HP:0000612	Iris coloboma
ORPHA:139471	BMP4	652	HP:0000528	Anophthalmia
OMIM:617159	CHD4	1108	HP:0000378	Cupped ear
OMIM:617159	CHD4	1108	HP:0000028	Cryptorchidism
OMIM:617159	CHD4	1108	HP:0001545	Anteriorly placed anus
OMIM:617159	CHD4	1108	HP:0002119	Ventriculomegaly
OMIM:617159	CHD4	1108	HP:0000076	Vesicoureteral reflux
OMIM:617159	CHD4	1108	HP:0000243	Trigonocephaly
OMIM:617159	CHD4	1108	HP:0000365	Hearing impairment
OMIM:617159	CHD4	1108	HP:0002308	Arnold-Chiari malformation
OMIM:617159	CHD4	1108	HP:0000062	Ambiguous genitalia
OMIM:617159	CHD4	1108	HP:0000369	Low-set ears
OMIM:617159	CHD4	1108	HP:0001290	Generalized hypotonia
OMIM:617159	CHD4	1108	HP:0000280	Coarse facial features
OMIM:617159	CHD4	1108	HP:0001671	Abnormality of the cardiac septa
OMIM:617159	CHD4	1108	HP:0004322	Short stature
OMIM:617159	CHD4	1108	HP:0100864	Short femoral neck
OMIM:617159	CHD4	1108	HP:0000256	Macrocephaly
OMIM:617159	CHD4	1108	HP:0000083	Renal insufficiency
OMIM:617159	CHD4	1108	HP:0000316	Hypertelorism
OMIM:617159	CHD4	1108	HP:0000508	Ptosis
OMIM:617159	CHD4	1108	HP:0002645	Wormian bones
OMIM:617159	CHD4	1108	HP:0000889	Abnormality of the clavicle
OMIM:617159	CHD4	1108	HP:0003812	Phenotypic variability
OMIM:617159	CHD4	1108	HP:0000582	Upslanted palpebral fissure
OMIM:617159	CHD4	1108	HP:0000286	Epicanthus
OMIM:617159	CHD4	1108	HP:0003180	Flat acetabular roof
OMIM:617159	CHD4	1108	HP:0001249	Intellectual disability
OMIM:617159	CHD4	1108	HP:0002141	Gait imbalance
OMIM:617159	CHD4	1108	HP:0000483	Astigmatism
OMIM:617159	CHD4	1108	HP:0001680	Coarctation of aorta
OMIM:617159	CHD4	1108	HP:0012745	Short palpebral fissure
OMIM:617159	CHD4	1108	HP:0000006	Autosomal dominant inheritance
OMIM:617159	CHD4	1108	HP:0000054	Micropenis
OMIM:617159	CHD4	1108	HP:0001182	Tapered finger
OMIM:617159	CHD4	1108	HP:0001636	Tetralogy of Fallot
OMIM:612885	MCM8	84515	HP:0008734	Decreased testicular size
OMIM:612885	MCM8	84515	HP:0000821	Hypothyroidism
OMIM:612885	MCM8	84515	HP:0008209	Premature ovarian insufficiency
OMIM:612885	MCM8	84515	HP:0000027	Azoospermia
OMIM:612885	MCM8	84515	HP:0000786	Primary amenorrhea
OMIM:612885	MCM8	84515	HP:0008724	Hypoplasia of the ovary
OMIM:612885	MCM8	84515	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:612885	MCM8	84515	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:612885	MCM8	84515	HP:0000007	Autosomal recessive inheritance
ORPHA:85279	KDM5C	8242	HP:0001250	Seizures
ORPHA:85279	KDM5C	8242	HP:0010864	Intellectual disability, severe
ORPHA:85279	KDM5C	8242	HP:0001347	Hyperreflexia
ORPHA:85279	KDM5C	8242	HP:0000028	Cryptorchidism
ORPHA:85279	KDM5C	8242	HP:0001257	Spasticity
ORPHA:85279	KDM5C	8242	HP:0004322	Short stature
ORPHA:85279	KDM5C	8242	HP:0000750	Delayed speech and language development
ORPHA:85279	KDM5C	8242	HP:0000327	Hypoplasia of the maxilla
ORPHA:85279	KDM5C	8242	HP:0000718	Aggressive behavior
ORPHA:85279	KDM5C	8242	HP:0002229	Alopecia areata
OMIM:256550	NEU1	4758	HP:0000518	Cataract
OMIM:256550	NEU1	4758	HP:0001290	Generalized hypotonia
OMIM:256550	NEU1	4758	HP:0000282	Facial edema
OMIM:256550	NEU1	4758	HP:0000529	Progressive visual loss
OMIM:256550	NEU1	4758	HP:0001541	Ascites
OMIM:256550	NEU1	4758	HP:0000007	Autosomal recessive inheritance
OMIM:256550	NEU1	4758	HP:0000407	Sensorineural hearing impairment
OMIM:256550	NEU1	4758	HP:0001350	Slurred speech
OMIM:256550	NEU1	4758	HP:0001789	Hydrops fetalis
OMIM:256550	NEU1	4758	HP:0003461	Increased urinary O-linked sialopeptides
OMIM:256550	NEU1	4758	HP:0002240	Hepatomegaly
OMIM:256550	NEU1	4758	HP:0012061	Urinary excretion of sialylated oligosaccharides
OMIM:256550	NEU1	4758	HP:0001336	Myoclonus
OMIM:256550	NEU1	4758	HP:0001638	Cardiomyopathy
OMIM:256550	NEU1	4758	HP:0001744	Splenomegaly
OMIM:256550	NEU1	4758	HP:0003202	Skeletal muscle atrophy
OMIM:256550	NEU1	4758	HP:0004333	Bone-marrow foam cells
OMIM:256550	NEU1	4758	HP:0001347	Hyperreflexia
OMIM:256550	NEU1	4758	HP:0001640	Cardiomegaly
OMIM:256550	NEU1	4758	HP:0001250	Seizures
OMIM:256550	NEU1	4758	HP:0000943	Dysostosis multiplex
OMIM:256550	NEU1	4758	HP:0001324	Muscle weakness
OMIM:256550	NEU1	4758	HP:0000280	Coarse facial features
OMIM:256550	NEU1	4758	HP:0001310	Dysmetria
OMIM:256550	NEU1	4758	HP:0010655	Epiphyseal stippling
OMIM:256550	NEU1	4758	HP:0000023	Inguinal hernia
OMIM:256550	NEU1	4758	HP:0010729	Cherry red spot of the macula
OMIM:256550	NEU1	4758	HP:0000639	Nystagmus
OMIM:256550	NEU1	4758	HP:0001922	Vacuolated lymphocytes
OMIM:256550	NEU1	4758	HP:0000093	Proteinuria
OMIM:256550	NEU1	4758	HP:0004322	Short stature
OMIM:256550	NEU1	4758	HP:0001249	Intellectual disability
OMIM:617258	PYROXD1	79912	HP:0001761	Pes cavus
OMIM:617258	PYROXD1	79912	HP:0002359	Frequent falls
OMIM:617258	PYROXD1	79912	HP:0001265	Hyporeflexia
OMIM:617258	PYROXD1	79912	HP:0010628	Facial palsy
OMIM:617258	PYROXD1	79912	HP:0002015	Dysphagia
OMIM:617258	PYROXD1	79912	HP:0003798	Nemaline bodies
OMIM:617258	PYROXD1	79912	HP:0001284	Areflexia
OMIM:617258	PYROXD1	79912	HP:0001611	Nasal speech
OMIM:617258	PYROXD1	79912	HP:0000098	Tall stature
OMIM:617258	PYROXD1	79912	HP:0001763	Pes planus
OMIM:617258	PYROXD1	79912	HP:0009046	Difficulty running
OMIM:617258	PYROXD1	79912	HP:0000218	High palate
OMIM:617258	PYROXD1	79912	HP:0003700	Generalized amyotrophy
OMIM:617258	PYROXD1	79912	HP:0003691	Scapular winging
OMIM:617258	PYROXD1	79912	HP:0003677	Slow progression
OMIM:617258	PYROXD1	79912	HP:0000007	Autosomal recessive inheritance
OMIM:617258	PYROXD1	79912	HP:0000467	Neck muscle weakness
OMIM:617258	PYROXD1	79912	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617258	PYROXD1	79912	HP:0003551	Difficulty climbing stairs
OMIM:617258	PYROXD1	79912	HP:0003388	Easy fatigability
OMIM:617258	PYROXD1	79912	HP:0000347	Micrognathia
OMIM:617258	PYROXD1	79912	HP:0003391	Gowers sign
OMIM:617258	PYROXD1	79912	HP:0011947	Respiratory tract infection
OMIM:615426	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:615426	HNRNPA1	3178	HP:0003155	Elevated alkaline phosphatase
OMIM:615426	HNRNPA1	3178	HP:0100299	Muscle fiber inclusion bodies
OMIM:615426	HNRNPA1	3178	HP:0003560	Muscular dystrophy
OMIM:615426	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615426	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:252160	MOCS2	4338	HP:0002510	Spastic tetraplegia
OMIM:252160	MOCS2	4338	HP:0000007	Autosomal recessive inheritance
OMIM:252160	MOCS2	4338	HP:0002179	Opisthotonus
OMIM:252160	MOCS2	4338	HP:0003166	Increased urinary taurine
OMIM:252160	MOCS2	4338	HP:0003676	Progressive
OMIM:252160	MOCS2	4338	HP:0003537	Hypouricemia
OMIM:252160	MOCS2	4338	HP:0002079	Hypoplasia of the corpus callosum
OMIM:252160	MOCS2	4338	HP:0002007	Frontal bossing
OMIM:252160	MOCS2	4338	HP:0003739	Myoclonic spasms
OMIM:252160	MOCS2	4338	HP:0000639	Nystagmus
OMIM:252160	MOCS2	4338	HP:0000804	Xanthine nephrolithiasis
OMIM:252160	MOCS2	4338	HP:0011814	Increased urinary hypoxanthine
OMIM:252160	MOCS2	4338	HP:0000293	Full cheeks
OMIM:252160	MOCS2	4338	HP:0002119	Ventriculomegaly
OMIM:252160	MOCS2	4338	HP:0010934	Xanthinuria
OMIM:252160	MOCS2	4338	HP:0001510	Growth delay
OMIM:252160	MOCS2	4338	HP:0002171	Gliosis
OMIM:252160	MOCS2	4338	HP:0000252	Microcephaly
OMIM:252160	MOCS2	4338	HP:0001083	Ectopia lentis
OMIM:252160	MOCS2	4338	HP:0011968	Feeding difficulties
OMIM:252160	MOCS2	4338	HP:0000256	Macrocephaly
OMIM:252160	MOCS2	4338	HP:0000316	Hypertelorism
OMIM:252160	MOCS2	4338	HP:0003196	Short nose
OMIM:252160	MOCS2	4338	HP:0012471	Thick vermilion border
OMIM:252160	MOCS2	4338	HP:0003447	Axonal loss
OMIM:252160	MOCS2	4338	HP:0000343	Long philtrum
OMIM:252160	MOCS2	4338	HP:0011096	Peripheral demyelination
OMIM:252160	MOCS2	4338	HP:0000276	Long face
OMIM:252160	MOCS2	4338	HP:0002059	Cerebral atrophy
OMIM:252160	MOCS2	4338	HP:0003570	Molybdenum cofactor deficiency
OMIM:614748	ITGA3	3675	HP:0011220	Prominent forehead
OMIM:614748	ITGA3	3675	HP:0003073	Hypoalbuminemia
OMIM:614748	ITGA3	3675	HP:0000316	Hypertelorism
OMIM:614748	ITGA3	3675	HP:0000252	Microcephaly
OMIM:614748	ITGA3	3675	HP:0000535	Sparse and thin eyebrow
OMIM:614748	ITGA3	3675	HP:0000653	Sparse eyelashes
OMIM:614748	ITGA3	3675	HP:0002643	Neonatal respiratory distress
OMIM:614748	ITGA3	3675	HP:0000007	Autosomal recessive inheritance
OMIM:614748	ITGA3	3675	HP:0002213	Fine hair
OMIM:614748	ITGA3	3675	HP:0000160	Narrow mouth
OMIM:614748	ITGA3	3675	HP:0000092	Tubular atrophy
OMIM:614748	ITGA3	3675	HP:0000093	Proteinuria
OMIM:614748	ITGA3	3675	HP:0003812	Phenotypic variability
OMIM:614748	ITGA3	3675	HP:0005972	Respiratory acidosis
OMIM:614748	ITGA3	3675	HP:0001030	Fragile skin
OMIM:614748	ITGA3	3675	HP:0000400	Macrotia
OMIM:614748	ITGA3	3675	HP:0000774	Narrow chest
OMIM:614748	ITGA3	3675	HP:0012213	Decreased glomerular filtration rate
OMIM:614748	ITGA3	3675	HP:0002209	Sparse scalp hair
OMIM:614748	ITGA3	3675	HP:0000083	Renal insufficiency
OMIM:614748	ITGA3	3675	HP:0000771	Gynecomastia
OMIM:614748	ITGA3	3675	HP:0000311	Round face
ORPHA:3047	KAT6B	23522	HP:0000269	Prominent occiput
ORPHA:3047	KAT6B	23522	HP:0008191	Thyroid agenesis
ORPHA:3047	KAT6B	23522	HP:0011968	Feeding difficulties
ORPHA:3047	KAT6B	23522	HP:0001561	Polyhydramnios
ORPHA:3047	KAT6B	23522	HP:0001252	Muscular hypotonia
ORPHA:3047	KAT6B	23522	HP:0005990	Thyroid hypoplasia
ORPHA:3047	KAT6B	23522	HP:0001328	Specific learning disability
ORPHA:3047	KAT6B	23522	HP:0000176	Submucous cleft hard palate
ORPHA:3047	KAT6B	23522	HP:0001263	Global developmental delay
ORPHA:3047	KAT6B	23522	HP:0004426	Abnormality of the cheek
ORPHA:3047	KAT6B	23522	HP:0000448	Prominent nose
ORPHA:3047	KAT6B	23522	HP:0003510	Severe short stature
ORPHA:3047	KAT6B	23522	HP:0001508	Failure to thrive
ORPHA:3047	KAT6B	23522	HP:0007598	Bilateral single transverse palmar creases
ORPHA:3047	KAT6B	23522	HP:0000278	Retrognathia
ORPHA:3047	KAT6B	23522	HP:0003189	Long nose
ORPHA:3047	KAT6B	23522	HP:0006695	Atrioventricular canal defect
ORPHA:3047	KAT6B	23522	HP:0001631	Atrial septal defect
ORPHA:3047	KAT6B	23522	HP:0002205	Recurrent respiratory infections
ORPHA:3047	KAT6B	23522	HP:0000369	Low-set ears
ORPHA:3047	KAT6B	23522	HP:0000414	Bulbous nose
ORPHA:3047	KAT6B	23522	HP:0001629	Ventricular septal defect
ORPHA:3047	KAT6B	23522	HP:0001250	Seizures
ORPHA:3047	KAT6B	23522	HP:0001249	Intellectual disability
ORPHA:3047	KAT6B	23522	HP:0000252	Microcephaly
ORPHA:3047	KAT6B	23522	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3047	KAT6B	23522	HP:0009738	Abnormality of the antihelix
ORPHA:3047	KAT6B	23522	HP:0000193	Bifid uvula
ORPHA:3047	KAT6B	23522	HP:0000581	Blepharophimosis
ORPHA:3047	KAT6B	23522	HP:0005692	Joint hyperflexibility
ORPHA:3047	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:3047	KAT6B	23522	HP:0000821	Hypothyroidism
ORPHA:3047	KAT6B	23522	HP:0012745	Short palpebral fissure
ORPHA:3047	KAT6B	23522	HP:0100028	Ectopic thyroid
ORPHA:3047	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:3047	KAT6B	23522	HP:0000358	Posteriorly rotated ears
ORPHA:3047	KAT6B	23522	HP:0001643	Patent ductus arteriosus
ORPHA:3047	KAT6B	23522	HP:0000340	Sloping forehead
ORPHA:3047	KAT6B	23522	HP:0100490	Camptodactyly of finger
OMIM:617125	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:617125	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
ORPHA:369	PYGL	5836	HP:0004322	Short stature
ORPHA:369	PYGL	5836	HP:0001943	Hypoglycemia
OMIM:616007	IARS2	55699	HP:0000518	Cataract
OMIM:616007	IARS2	55699	HP:0000824	Growth hormone deficiency
OMIM:616007	IARS2	55699	HP:0001270	Motor delay
OMIM:616007	IARS2	55699	HP:0007141	Sensorimotor neuropathy
OMIM:616007	IARS2	55699	HP:0001374	Congenital hip dislocation
OMIM:616007	IARS2	55699	HP:0001371	Flexion contracture
OMIM:616007	IARS2	55699	HP:0002650	Scoliosis
OMIM:616007	IARS2	55699	HP:0002936	Distal sensory impairment
OMIM:616007	IARS2	55699	HP:0005280	Depressed nasal bridge
OMIM:616007	IARS2	55699	HP:0004322	Short stature
OMIM:616007	IARS2	55699	HP:0000639	Nystagmus
OMIM:616007	IARS2	55699	HP:0000763	Sensory neuropathy
OMIM:616007	IARS2	55699	HP:0001265	Hyporeflexia
OMIM:616007	IARS2	55699	HP:0000407	Sensorineural hearing impairment
OMIM:616007	IARS2	55699	HP:0003416	Spinal canal stenosis
OMIM:616007	IARS2	55699	HP:0000007	Autosomal recessive inheritance
OMIM:616007	IARS2	55699	HP:0000938	Osteopenia
OMIM:616007	IARS2	55699	HP:0000343	Long philtrum
OMIM:613100	NTF4	4909	HP:0012108	Open angle glaucoma
OMIM:613456	ALX1	8092	HP:0002223	Absent eyebrow
OMIM:613456	ALX1	8092	HP:0000007	Autosomal recessive inheritance
OMIM:613456	ALX1	8092	HP:0000175	Cleft palate
OMIM:613456	ALX1	8092	HP:0002006	Facial cleft
OMIM:613456	ALX1	8092	HP:0000248	Brachycephaly
OMIM:613456	ALX1	8092	HP:0000316	Hypertelorism
OMIM:613456	ALX1	8092	HP:0000430	Underdeveloped nasal alae
OMIM:613456	ALX1	8092	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613456	ALX1	8092	HP:0000636	Upper eyelid coloboma
OMIM:613456	ALX1	8092	HP:0000568	Microphthalmia
OMIM:613456	ALX1	8092	HP:0000431	Wide nasal bridge
OMIM:613456	ALX1	8092	HP:0002057	Prominent glabella
OMIM:613456	ALX1	8092	HP:0000653	Sparse eyelashes
OMIM:613456	ALX1	8092	HP:0001249	Intellectual disability
OMIM:603553	PRF1	5551	HP:0002445	Tetraplegia
OMIM:603553	PRF1	5551	HP:0002301	Hemiplegia
OMIM:603553	PRF1	5551	HP:0001290	Generalized hypotonia
OMIM:603553	PRF1	5551	HP:0003281	Increased serum ferritin
OMIM:603553	PRF1	5551	HP:0003073	Hypoalbuminemia
OMIM:603553	PRF1	5551	HP:0001744	Splenomegaly
OMIM:603553	PRF1	5551	HP:0001508	Failure to thrive
OMIM:603553	PRF1	5551	HP:0012156	Hemophagocytosis
OMIM:603553	PRF1	5551	HP:0002240	Hepatomegaly
OMIM:603553	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:603553	PRF1	5551	HP:0001259	Coma
OMIM:603553	PRF1	5551	HP:0001873	Thrombocytopenia
OMIM:603553	PRF1	5551	HP:0003075	Hypoproteinemia
OMIM:603553	PRF1	5551	HP:0001250	Seizures
OMIM:603553	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:603553	PRF1	5551	HP:0001263	Global developmental delay
OMIM:603553	PRF1	5551	HP:0003573	Increased total bilirubin
OMIM:603553	PRF1	5551	HP:0001251	Ataxia
OMIM:603553	PRF1	5551	HP:0001276	Hypertonia
OMIM:603553	PRF1	5551	HP:0007430	Generalized edema
OMIM:603553	PRF1	5551	HP:0001882	Leukopenia
OMIM:603553	PRF1	5551	HP:0001287	Meningitis
OMIM:603553	PRF1	5551	HP:0002383	Encephalitis
OMIM:603553	PRF1	5551	HP:0002902	Hyponatremia
OMIM:603553	PRF1	5551	HP:0000737	Irritability
OMIM:603553	PRF1	5551	HP:0012229	CSF pleocytosis
OMIM:603553	PRF1	5551	HP:0000952	Jaundice
OMIM:603553	PRF1	5551	HP:0011900	Hypofibrinogenemia
OMIM:603553	PRF1	5551	HP:0002516	Increased intracranial pressure
OMIM:603553	PRF1	5551	HP:0001903	Anemia
OMIM:603553	PRF1	5551	HP:0002922	Increased CSF protein
OMIM:603553	PRF1	5551	HP:0002716	Lymphadenopathy
OMIM:603553	PRF1	5551	HP:0008151	Prolonged prothrombin time
OMIM:308230	CD40LG	959	HP:0002720	IgA deficiency
OMIM:308230	CD40LG	959	HP:0002959	Impaired Ig class switch recombination
OMIM:308230	CD40LG	959	HP:0010280	Stomatitis
OMIM:308230	CD40LG	959	HP:0030812	Enlarged tonsils
OMIM:308230	CD40LG	959	HP:0001419	X-linked recessive inheritance
OMIM:308230	CD40LG	959	HP:0200123	Chronic hepatitis
OMIM:308230	CD40LG	959	HP:0005479	IgE deficiency
OMIM:308230	CD40LG	959	HP:0002849	Absence of lymph node germinal center
OMIM:308230	CD40LG	959	HP:0003496	Increased IgM level
OMIM:308230	CD40LG	959	HP:0001873	Thrombocytopenia
OMIM:308230	CD40LG	959	HP:0001875	Neutropenia
OMIM:308230	CD40LG	959	HP:0002961	Dysgammaglobulinemia
OMIM:308230	CD40LG	959	HP:0002847	Impaired memory B-cell generation
OMIM:308230	CD40LG	959	HP:0012115	Hepatitis
OMIM:308230	CD40LG	959	HP:0002240	Hepatomegaly
OMIM:308230	CD40LG	959	HP:0004315	IgG deficiency
OMIM:308230	CD40LG	959	HP:0000230	Gingivitis
OMIM:308230	CD40LG	959	HP:0005419	Decreased T cell activation
OMIM:308230	CD40LG	959	HP:0002014	Diarrhea
OMIM:308230	CD40LG	959	HP:0002718	Recurrent bacterial infections
OMIM:308230	CD40LG	959	HP:0001744	Splenomegaly
OMIM:308230	CD40LG	959	HP:0001878	Hemolytic anemia
OMIM:308230	CD40LG	959	HP:0002721	Immunodeficiency
OMIM:238970	SLC25A15	10166	HP:0000007	Autosomal recessive inheritance
OMIM:238970	SLC25A15	10166	HP:0002120	Cerebral cortical atrophy
OMIM:238970	SLC25A15	10166	HP:0001254	Lethargy
OMIM:238970	SLC25A15	10166	HP:0001259	Coma
OMIM:238970	SLC25A15	10166	HP:0001410	Decreased liver function
OMIM:238970	SLC25A15	10166	HP:0007894	Hypopigmentation of the fundus
OMIM:238970	SLC25A15	10166	HP:0002313	Spastic paraparesis
OMIM:238970	SLC25A15	10166	HP:0006846	Acute encephalopathy
OMIM:238970	SLC25A15	10166	HP:0002038	Protein avoidance
OMIM:238970	SLC25A15	10166	HP:0002240	Hepatomegaly
OMIM:238970	SLC25A15	10166	HP:0002572	Episodic vomiting
OMIM:238970	SLC25A15	10166	HP:0001249	Intellectual disability
OMIM:238970	SLC25A15	10166	HP:0002169	Clonus
OMIM:238970	SLC25A15	10166	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:238970	SLC25A15	10166	HP:0007256	Abnormal pyramidal signs
OMIM:238970	SLC25A15	10166	HP:0001328	Specific learning disability
OMIM:238970	SLC25A15	10166	HP:0001508	Failure to thrive
OMIM:238970	SLC25A15	10166	HP:0012026	Hyperornithinemia
OMIM:238970	SLC25A15	10166	HP:0200119	Acute hepatitis
OMIM:238970	SLC25A15	10166	HP:0002123	Generalized myoclonic seizures
OMIM:238970	SLC25A15	10166	HP:0002370	Poor coordination
OMIM:238970	SLC25A15	10166	HP:0001263	Global developmental delay
OMIM:238970	SLC25A15	10166	HP:0001290	Generalized hypotonia
OMIM:238970	SLC25A15	10166	HP:0002495	Impaired vibratory sensation
OMIM:238970	SLC25A15	10166	HP:0003812	Phenotypic variability
OMIM:238970	SLC25A15	10166	HP:0001987	Hyperammonemia
OMIM:238970	SLC25A15	10166	HP:0000762	Decreased nerve conduction velocity
OMIM:615522	ENPP1	5167	HP:0025114	Hypergranulosis
OMIM:615522	ENPP1	5167	HP:0000962	Hyperkeratosis
OMIM:615522	ENPP1	5167	HP:0025092	Epidermal acanthosis
OMIM:615522	ENPP1	5167	HP:0000006	Autosomal dominant inheritance
OMIM:277300	MESP2	145873	HP:0000470	Short neck
OMIM:277300	MESP2	145873	HP:0002937	Hemivertebrae
OMIM:277300	MESP2	145873	HP:0002205	Recurrent respiratory infections
OMIM:277300	MESP2	145873	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	MESP2	145873	HP:0001522	Death in infancy
OMIM:277300	MESP2	145873	HP:0003305	Block vertebrae
OMIM:277300	MESP2	145873	HP:0003310	Abnormality of the odontoid process
OMIM:277300	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:277300	MESP2	145873	HP:0003510	Severe short stature
OMIM:277300	MESP2	145873	HP:0000902	Rib fusion
OMIM:277300	DLL3	10683	HP:0000470	Short neck
OMIM:277300	DLL3	10683	HP:0002937	Hemivertebrae
OMIM:277300	DLL3	10683	HP:0002205	Recurrent respiratory infections
OMIM:277300	DLL3	10683	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	DLL3	10683	HP:0001522	Death in infancy
OMIM:277300	DLL3	10683	HP:0003305	Block vertebrae
OMIM:277300	DLL3	10683	HP:0003310	Abnormality of the odontoid process
OMIM:277300	DLL3	10683	HP:0000007	Autosomal recessive inheritance
OMIM:277300	DLL3	10683	HP:0003510	Severe short stature
OMIM:277300	DLL3	10683	HP:0000902	Rib fusion
OMIM:617054	VAC14	55697	HP:0003676	Progressive
OMIM:617054	VAC14	55697	HP:0000007	Autosomal recessive inheritance
OMIM:617054	VAC14	55697	HP:0000750	Delayed speech and language development
OMIM:617054	VAC14	55697	HP:0002307	Drooling
OMIM:617054	VAC14	55697	HP:0001276	Hypertonia
OMIM:617054	VAC14	55697	HP:0002317	Unsteady gait
OMIM:617054	VAC14	55697	HP:0006957	Loss of ability to walk
OMIM:617054	VAC14	55697	HP:0001347	Hyperreflexia
OMIM:617054	VAC14	55697	HP:0002376	Developmental regression
OMIM:617054	VAC14	55697	HP:0002015	Dysphagia
OMIM:617054	VAC14	55697	HP:0012179	Craniofacial dystonia
OMIM:237300	CPS1	1373	HP:0001950	Respiratory alkalosis
OMIM:237300	CPS1	1373	HP:0001254	Lethargy
OMIM:237300	CPS1	1373	HP:0002013	Vomiting
OMIM:237300	CPS1	1373	HP:0002181	Cerebral edema
OMIM:237300	CPS1	1373	HP:0000007	Autosomal recessive inheritance
OMIM:237300	CPS1	1373	HP:0001249	Intellectual disability
OMIM:237300	CPS1	1373	HP:0001259	Coma
OMIM:237300	CPS1	1373	HP:0002038	Protein avoidance
OMIM:237300	CPS1	1373	HP:0001951	Episodic ammonia intoxication
OMIM:237300	CPS1	1373	HP:0001508	Failure to thrive
OMIM:237300	CPS1	1373	HP:0001987	Hyperammonemia
OMIM:237300	CPS1	1373	HP:0001263	Global developmental delay
OMIM:237300	CPS1	1373	HP:0001250	Seizures
OMIM:237300	CPS1	1373	HP:0000737	Irritability
OMIM:237300	CPS1	1373	HP:0001251	Ataxia
OMIM:237300	CPS1	1373	HP:0003572	Low plasma citrulline
OMIM:237300	CPS1	1373	HP:0005961	Hypoargininemia
OMIM:614096	AARS2	57505	HP:0003128	Lactic acidosis
OMIM:614096	AARS2	57505	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614096	AARS2	57505	HP:0002151	Increased serum lactate
OMIM:614096	AARS2	57505	HP:0001508	Failure to thrive
OMIM:614096	AARS2	57505	HP:0000007	Autosomal recessive inheritance
OMIM:614096	AARS2	57505	HP:0002353	EEG abnormality
OMIM:614096	AARS2	57505	HP:0003324	Generalized muscle weakness
OMIM:614096	AARS2	57505	HP:0001522	Death in infancy
OMIM:614096	AARS2	57505	HP:0002089	Pulmonary hypoplasia
OMIM:106190	ITPR2	3709	HP:0002046	Heat intolerance
OMIM:106190	ITPR2	3709	HP:0000007	Autosomal recessive inheritance
OMIM:106190	ITPR2	3709	HP:0000970	Anhidrosis
OMIM:106190	ITPR2	3709	HP:0007459	Generalized anhidrosis
OMIM:138500	SLC36A2	153201	HP:0003108	Hyperglycinuria
OMIM:138500	SLC36A2	153201	HP:0000006	Autosomal dominant inheritance
OMIM:138500	SLC36A2	153201	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:138500	SLC6A20	54716	HP:0003108	Hyperglycinuria
OMIM:138500	SLC6A20	54716	HP:0000006	Autosomal dominant inheritance
OMIM:138500	SLC6A20	54716	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:138500	SLC6A19	340024	HP:0003108	Hyperglycinuria
OMIM:138500	SLC6A19	340024	HP:0000006	Autosomal dominant inheritance
OMIM:138500	SLC6A19	340024	HP:0008672	Calcium oxalate nephrolithiasis
ORPHA:93262	FGFR3	2261	HP:0002516	Increased intracranial pressure
ORPHA:93262	FGFR3	2261	HP:0000520	Proptosis
ORPHA:93262	FGFR3	2261	HP:0000262	Turricephaly
ORPHA:93262	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:93262	FGFR3	2261	HP:0000316	Hypertelorism
ORPHA:93262	FGFR3	2261	HP:0000238	Hydrocephalus
ORPHA:93262	FGFR3	2261	HP:0001156	Brachydactyly
ORPHA:93262	FGFR3	2261	HP:0000508	Ptosis
ORPHA:93262	FGFR3	2261	HP:0001163	Abnormality of the metacarpal bones
ORPHA:93262	FGFR3	2261	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:93262	FGFR3	2261	HP:0000486	Strabismus
ORPHA:93262	FGFR3	2261	HP:0002308	Arnold-Chiari malformation
ORPHA:93262	FGFR3	2261	HP:0000405	Conductive hearing impairment
ORPHA:93262	FGFR3	2261	HP:0000327	Hypoplasia of the maxilla
ORPHA:93262	FGFR3	2261	HP:0100533	Inflammatory abnormality of the eye
ORPHA:93262	FGFR3	2261	HP:0000248	Brachycephaly
ORPHA:93262	FGFR3	2261	HP:0000956	Acanthosis nigricans
ORPHA:93262	FGFR3	2261	HP:0000272	Malar flattening
ORPHA:93262	FGFR3	2261	HP:0000348	High forehead
ORPHA:93262	FGFR3	2261	HP:0000453	Choanal atresia
ORPHA:93262	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:610163	CD247	919	HP:0000007	Autosomal recessive inheritance
OMIM:610163	CD247	919	HP:0002721	Immunodeficiency
OMIM:610163	CD247	919	HP:0005353	Susceptibility to herpesvirus
OMIM:610163	CD247	919	HP:0005403	Decrease in T cell count
OMIM:610163	CD247	919	HP:0004385	Protracted diarrhea
OMIM:610163	CD247	919	HP:0001880	Eosinophilia
OMIM:610163	CD247	919	HP:0003593	Infantile onset
OMIM:241520	DMP1	1758	HP:0000007	Autosomal recessive inheritance
OMIM:241520	DMP1	1758	HP:0001363	Craniosynostosis
OMIM:241520	DMP1	1758	HP:0002148	Hypophosphatemia
OMIM:241520	DMP1	1758	HP:0002748	Rickets
OMIM:241520	DMP1	1758	HP:0011001	Increased bone mineral density
OMIM:241520	DMP1	1758	HP:0000407	Sensorineural hearing impairment
OMIM:241520	DMP1	1758	HP:0004912	Hypophosphatemic rickets
ORPHA:300536	DDOST	1650	HP:0002910	Elevated hepatic transaminases
ORPHA:300536	DDOST	1650	HP:0001250	Seizures
ORPHA:300536	DDOST	1650	HP:0002167	Neurological speech impairment
ORPHA:300536	DDOST	1650	HP:0012758	Neurodevelopmental delay
ORPHA:300536	DDOST	1650	HP:0001508	Failure to thrive
ORPHA:300536	DDOST	1650	HP:0000565	Esotropia
ORPHA:300536	DDOST	1650	HP:0002019	Constipation
ORPHA:300536	DDOST	1650	HP:0007301	Oromotor apraxia
ORPHA:300536	DDOST	1650	HP:0003429	CNS hypomyelination
ORPHA:300536	DDOST	1650	HP:0001290	Generalized hypotonia
ORPHA:300536	DDOST	1650	HP:0001397	Hepatic steatosis
ORPHA:300536	DDOST	1650	HP:0000938	Osteopenia
ORPHA:300536	DDOST	1650	HP:0004322	Short stature
ORPHA:300536	DDOST	1650	HP:0001337	Tremor
ORPHA:300536	DDOST	1650	HP:0005616	Accelerated skeletal maturation
ORPHA:300536	DDOST	1650	HP:0003642	Type I transferrin isoform profile
ORPHA:300536	DDOST	1650	HP:0002020	Gastroesophageal reflux
ORPHA:300536	DDOST	1650	HP:0410018	Recurrent ear infections
ORPHA:300536	DDOST	1650	HP:0003256	Abnormality of the coagulation cascade
OMIM:609140	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:609140	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:609140	COL8A2	1296	HP:0007957	Corneal opacity
OMIM:617173	GNB5	10681	HP:0000007	Autosomal recessive inheritance
OMIM:617173	GNB5	10681	HP:0001662	Bradycardia
OMIM:617173	GNB5	10681	HP:0001249	Intellectual disability
OMIM:617173	GNB5	10681	HP:0001290	Generalized hypotonia
OMIM:617173	GNB5	10681	HP:0000546	Retinal degeneration
OMIM:617173	GNB5	10681	HP:0001263	Global developmental delay
OMIM:617173	GNB5	10681	HP:0000639	Nystagmus
OMIM:617173	GNB5	10681	HP:0000512	Abnormal electroretinogram
OMIM:617173	GNB5	10681	HP:0000750	Delayed speech and language development
OMIM:617173	GNB5	10681	HP:0011704	Sick sinus syndrome
OMIM:617020	ARV1	64801	HP:0000007	Autosomal recessive inheritance
OMIM:617020	ARV1	64801	HP:0001251	Ataxia
OMIM:617020	ARV1	64801	HP:0001332	Dystonia
OMIM:617020	ARV1	64801	HP:0002187	Intellectual disability, profound
OMIM:617020	ARV1	64801	HP:0001290	Generalized hypotonia
OMIM:617020	ARV1	64801	HP:0002133	Status epilepticus
OMIM:617020	ARV1	64801	HP:0001263	Global developmental delay
OMIM:617020	ARV1	64801	HP:0200134	Epileptic encephalopathy
OMIM:617020	ARV1	64801	HP:0003593	Infantile onset
OMIM:145410	SPECC1L	23384	HP:0002092	Pulmonary arterial hypertension
OMIM:145410	SPECC1L	23384	HP:0000193	Bifid uvula
OMIM:145410	SPECC1L	23384	HP:0000405	Conductive hearing impairment
OMIM:145410	SPECC1L	23384	HP:0001263	Global developmental delay
OMIM:145410	SPECC1L	23384	HP:0001249	Intellectual disability
OMIM:145410	SPECC1L	23384	HP:0002036	Hiatus hernia
OMIM:145410	SPECC1L	23384	HP:0001274	Agenesis of corpus callosum
OMIM:145410	SPECC1L	23384	HP:0002120	Cerebral cortical atrophy
OMIM:145410	SPECC1L	23384	HP:0000047	Hypospadias
OMIM:145410	SPECC1L	23384	HP:0000006	Autosomal dominant inheritance
OMIM:145410	SPECC1L	23384	HP:0000204	Cleft upper lip
OMIM:145410	SPECC1L	23384	HP:0000494	Downslanted palpebral fissures
OMIM:145410	SPECC1L	23384	HP:0011467	Absent gallbladder
OMIM:145410	SPECC1L	23384	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:145410	SPECC1L	23384	HP:0000358	Posteriorly rotated ears
OMIM:145410	SPECC1L	23384	HP:0000347	Micrognathia
OMIM:145410	SPECC1L	23384	HP:0002089	Pulmonary hypoplasia
OMIM:145410	SPECC1L	23384	HP:0000431	Wide nasal bridge
OMIM:145410	SPECC1L	23384	HP:0001537	Umbilical hernia
OMIM:145410	SPECC1L	23384	HP:0000069	Abnormality of the ureter
OMIM:145410	SPECC1L	23384	HP:0000219	Thin upper lip vermilion
OMIM:145410	SPECC1L	23384	HP:0000023	Inguinal hernia
OMIM:145410	SPECC1L	23384	HP:0011220	Prominent forehead
OMIM:145410	SPECC1L	23384	HP:0001612	Weak cry
OMIM:145410	SPECC1L	23384	HP:0000319	Smooth philtrum
OMIM:145410	SPECC1L	23384	HP:0001680	Coarctation of aorta
OMIM:145410	SPECC1L	23384	HP:0000175	Cleft palate
OMIM:145410	SPECC1L	23384	HP:0000316	Hypertelorism
OMIM:145410	SPECC1L	23384	HP:0001320	Cerebellar vermis hypoplasia
OMIM:145410	SPECC1L	23384	HP:0001643	Patent ductus arteriosus
OMIM:145410	SPECC1L	23384	HP:0002007	Frontal bossing
OMIM:145410	SPECC1L	23384	HP:0001290	Generalized hypotonia
OMIM:145410	SPECC1L	23384	HP:0000218	High palate
OMIM:145410	SPECC1L	23384	HP:0000286	Epicanthus
OMIM:145410	SPECC1L	23384	HP:0000486	Strabismus
OMIM:145410	SPECC1L	23384	HP:0002575	Tracheoesophageal fistula
OMIM:145410	SPECC1L	23384	HP:0000077	Abnormality of the kidney
OMIM:145410	SPECC1L	23384	HP:0001540	Diastasis recti
OMIM:145410	SPECC1L	23384	HP:0001631	Atrial septal defect
OMIM:145410	SPECC1L	23384	HP:0000028	Cryptorchidism
OMIM:145410	SPECC1L	23384	HP:0000267	Cranial asymmetry
OMIM:145410	SPECC1L	23384	HP:0003593	Infantile onset
OMIM:145410	SPECC1L	23384	HP:0002835	Aspiration
OMIM:145410	SPECC1L	23384	HP:0000506	Telecanthus
OMIM:145410	SPECC1L	23384	HP:0005280	Depressed nasal bridge
OMIM:145410	SPECC1L	23384	HP:0000349	Widow's peak
OMIM:145410	SPECC1L	23384	HP:0002389	Cavum septum pellucidum
OMIM:145410	SPECC1L	23384	HP:0002023	Anal atresia
OMIM:145410	SPECC1L	23384	HP:0001629	Ventricular septal defect
OMIM:145410	SPECC1L	23384	HP:0002015	Dysphagia
OMIM:145410	SPECC1L	23384	HP:0000048	Bifid scrotum
OMIM:145410	SPECC1L	23384	HP:0000200	Short lingual frenulum
OMIM:145410	SPECC1L	23384	HP:0008751	Laryngeal cleft
OMIM:145410	SPECC1L	23384	HP:0002025	Anal stenosis
OMIM:145410	SPECC1L	23384	HP:0002119	Ventriculomegaly
OMIM:613695	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:613695	KCNE1	3753	HP:0001279	Syncope
OMIM:613695	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNE1	3753	HP:0001425	Heterogeneous
OMIM:613695	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:613695	KCNE1	3753	HP:0001657	Prolonged QT interval
ORPHA:3057	MAOA	4128	HP:0000708	Behavioral abnormality
ORPHA:3057	MAOA	4128	HP:0100543	Cognitive impairment
OMIM:613843	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613843	TULP1	7287	HP:0000546	Retinal degeneration
OMIM:613843	TULP1	7287	HP:0007772	Impaired smooth pursuit
OMIM:613843	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613843	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613843	TULP1	7287	HP:0006934	Congenital nystagmus
OMIM:613843	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:613843	TULP1	7287	HP:0000505	Visual impairment
OMIM:613843	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613843	TULP1	7287	HP:0000545	Myopia
OMIM:613843	TULP1	7287	HP:0030211	Slow pupillary light response
OMIM:613843	TULP1	7287	HP:0000551	Abnormality of color vision
OMIM:613843	TULP1	7287	HP:0000580	Pigmentary retinopathy
ORPHA:50945	PTH1R	5745	HP:0008905	Rhizomelia
ORPHA:50945	PTH1R	5745	HP:0000520	Proptosis
ORPHA:50945	PTH1R	5745	HP:0003015	Flared metaphysis
ORPHA:50945	PTH1R	5745	HP:0010808	Protruding tongue
ORPHA:50945	PTH1R	5745	HP:0000463	Anteverted nares
ORPHA:50945	PTH1R	5745	HP:0000272	Malar flattening
ORPHA:50945	PTH1R	5745	HP:0005716	Lethal skeletal dysplasia
ORPHA:50945	PTH1R	5745	HP:0000695	Natal tooth
ORPHA:50945	PTH1R	5745	HP:0006487	Bowing of the long bones
ORPHA:50945	PTH1R	5745	HP:0000369	Low-set ears
ORPHA:50945	PTH1R	5745	HP:0006660	Aplastic clavicles
ORPHA:50945	PTH1R	5745	HP:0000343	Long philtrum
ORPHA:50945	PTH1R	5745	HP:0003021	Metaphyseal cupping
ORPHA:50945	PTH1R	5745	HP:0000506	Telecanthus
ORPHA:50945	PTH1R	5745	HP:0000916	Broad clavicles
ORPHA:50945	PTH1R	5745	HP:0006402	Distal shortening of limbs
ORPHA:50945	PTH1R	5745	HP:0003027	Mesomelia
ORPHA:50945	PTH1R	5745	HP:0100240	Synostosis of joints
ORPHA:50945	PTH1R	5745	HP:0001789	Hydrops fetalis
ORPHA:50945	PTH1R	5745	HP:0000773	Short ribs
ORPHA:50945	PTH1R	5745	HP:0003196	Short nose
ORPHA:50945	PTH1R	5745	HP:0001538	Protuberant abdomen
ORPHA:50945	PTH1R	5745	HP:0000518	Cataract
ORPHA:50945	PTH1R	5745	HP:0005616	Accelerated skeletal maturation
ORPHA:50945	PTH1R	5745	HP:0008921	Neonatal short-limb short stature
ORPHA:50945	PTH1R	5745	HP:0000347	Micrognathia
ORPHA:50945	PTH1R	5745	HP:0002089	Pulmonary hypoplasia
ORPHA:50945	PTH1R	5745	HP:0001622	Premature birth
ORPHA:50945	PTH1R	5745	HP:0011001	Increased bone mineral density
ORPHA:50945	PTH1R	5745	HP:0000926	Platyspondyly
ORPHA:50945	PTH1R	5745	HP:0010306	Short thorax
ORPHA:50945	PTH1R	5745	HP:0010049	Short metacarpal
ORPHA:50945	PTH1R	5745	HP:0000774	Narrow chest
ORPHA:50945	PTH1R	5745	HP:0001561	Polyhydramnios
ORPHA:50945	PTH1R	5745	HP:0005280	Depressed nasal bridge
ORPHA:50945	PTH1R	5745	HP:0005930	Abnormality of epiphysis morphology
OMIM:138800	DICER1	23405	HP:0000006	Autosomal dominant inheritance
OMIM:138800	DICER1	23405	HP:0000866	Euthyroid multinodular goiter
OMIM:138800	DICER1	23405	HP:0002895	Papillary thyroid carcinoma
OMIM:265900	SFRP4	6424	HP:0001324	Muscle weakness
OMIM:265900	SFRP4	6424	HP:0000765	Abnormality of the thorax
OMIM:265900	SFRP4	6424	HP:0002689	Absent paranasal sinuses
OMIM:265900	SFRP4	6424	HP:0100255	Metaphyseal dysplasia
OMIM:265900	SFRP4	6424	HP:0002738	Hypoplastic frontal sinuses
OMIM:265900	SFRP4	6424	HP:0000670	Carious teeth
OMIM:265900	SFRP4	6424	HP:0000007	Autosomal recessive inheritance
OMIM:265900	SFRP4	6424	HP:0002684	Thickened calvaria
OMIM:265900	SFRP4	6424	HP:0002650	Scoliosis
OMIM:265900	SFRP4	6424	HP:0001377	Limited elbow extension
OMIM:265900	SFRP4	6424	HP:0000926	Platyspondyly
OMIM:265900	SFRP4	6424	HP:0000303	Mandibular prognathia
OMIM:265900	SFRP4	6424	HP:0002857	Genu valgum
OMIM:265900	SFRP4	6424	HP:0004349	Reduced bone mineral density
OMIM:265900	SFRP4	6424	HP:0002829	Arthralgia
ORPHA:1727	TBX1	6899	HP:0000494	Downslanted palpebral fissures
ORPHA:1727	TBX1	6899	HP:0000275	Narrow face
ORPHA:1727	TBX1	6899	HP:0000316	Hypertelorism
ORPHA:1727	TBX1	6899	HP:0001263	Global developmental delay
ORPHA:1727	TBX1	6899	HP:0001252	Muscular hypotonia
ORPHA:1727	TBX1	6899	HP:0002167	Neurological speech impairment
ORPHA:1727	TBX1	6899	HP:0001611	Nasal speech
ORPHA:1727	TBX1	6899	HP:0000348	High forehead
ORPHA:1727	TBX1	6899	HP:0000750	Delayed speech and language development
ORPHA:1727	TBX1	6899	HP:0000600	Abnormality of the pharynx
ORPHA:1727	TBX1	6899	HP:0011800	Midface retrusion
ORPHA:1727	TBX1	6899	HP:0000175	Cleft palate
ORPHA:1727	TBX1	6899	HP:0000286	Epicanthus
ORPHA:1727	TBX1	6899	HP:0000457	Depressed nasal ridge
ORPHA:1727	TBX1	6899	HP:0001249	Intellectual disability
OMIM:180295	DICER1	23405	HP:0005987	Multinodular goiter
OMIM:180295	DICER1	23405	HP:0006743	Embryonal rhabdomyosarcoma
OMIM:300919	USP9X	8239	HP:0001290	Generalized hypotonia
OMIM:300919	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300919	USP9X	8239	HP:0004322	Short stature
OMIM:300919	USP9X	8239	HP:0011304	Broad thumb
OMIM:300919	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300919	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300919	USP9X	8239	HP:0011220	Prominent forehead
OMIM:300029	RPGR	6103	HP:0001417	X-linked inheritance
OMIM:300029	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:614701	RAD21	5885	HP:0003812	Phenotypic variability
OMIM:614701	RAD21	5885	HP:0001263	Global developmental delay
OMIM:614701	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:614701	RAD21	5885	HP:0100777	Exostoses
OMIM:614701	RAD21	5885	HP:0000252	Microcephaly
OMIM:614701	RAD21	5885	HP:0000219	Thin upper lip vermilion
OMIM:614701	RAD21	5885	HP:0000664	Synophrys
OMIM:614701	RAD21	5885	HP:0000006	Autosomal dominant inheritance
OMIM:614701	RAD21	5885	HP:0000574	Thick eyebrow
OMIM:614701	RAD21	5885	HP:0000319	Smooth philtrum
OMIM:614701	RAD21	5885	HP:0000431	Wide nasal bridge
OMIM:614701	RAD21	5885	HP:0004322	Short stature
OMIM:614701	RAD21	5885	HP:0000343	Long philtrum
OMIM:125700	AVP	551	HP:0003196	Short nose
OMIM:125700	AVP	551	HP:0000938	Osteopenia
OMIM:125700	AVP	551	HP:0000343	Long philtrum
OMIM:125700	AVP	551	HP:0000863	Central diabetes insipidus
OMIM:125700	AVP	551	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:125700	AVP	551	HP:0000445	Wide nose
OMIM:125700	AVP	551	HP:0002171	Gliosis
OMIM:125700	AVP	551	HP:0000316	Hypertelorism
OMIM:125700	AVP	551	HP:0000006	Autosomal dominant inheritance
ORPHA:1225	RECQL4	9401	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1225	RECQL4	9401	HP:0001511	Intrauterine growth retardation
ORPHA:1225	RECQL4	9401	HP:0001163	Abnormality of the metacarpal bones
ORPHA:1225	RECQL4	9401	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1225	RECQL4	9401	HP:0002024	Malabsorption
ORPHA:1225	RECQL4	9401	HP:0001191	Abnormality of the carpal bones
ORPHA:1225	RECQL4	9401	HP:0003196	Short nose
ORPHA:1225	RECQL4	9401	HP:0000239	Large fontanelles
ORPHA:1225	RECQL4	9401	HP:0004322	Short stature
ORPHA:1225	RECQL4	9401	HP:0006487	Bowing of the long bones
ORPHA:1225	RECQL4	9401	HP:0000244	Brachyturricephaly
ORPHA:1225	RECQL4	9401	HP:0000160	Narrow mouth
ORPHA:1225	RECQL4	9401	HP:0000218	High palate
ORPHA:1225	RECQL4	9401	HP:0001531	Failure to thrive in infancy
ORPHA:1225	RECQL4	9401	HP:0001545	Anteriorly placed anus
ORPHA:1225	RECQL4	9401	HP:0000520	Proptosis
ORPHA:1225	RECQL4	9401	HP:0002007	Frontal bossing
ORPHA:1225	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:1225	RECQL4	9401	HP:0001180	Hand oligodactyly
OMIM:617194	GLDN	342035	HP:0002089	Pulmonary hypoplasia
OMIM:617194	GLDN	342035	HP:0000007	Autosomal recessive inheritance
OMIM:617194	GLDN	342035	HP:0001558	Decreased fetal movement
ORPHA:1827	ZSWIM6	57688	HP:0002084	Encephalocele
ORPHA:1827	ZSWIM6	57688	HP:0000316	Hypertelorism
ORPHA:1827	ZSWIM6	57688	HP:0000455	Broad nasal tip
ORPHA:1827	ZSWIM6	57688	HP:0011803	Bifid nose
ORPHA:1827	ZSWIM6	57688	HP:0009928	Thick nasal alae
ORPHA:1827	ZSWIM6	57688	HP:0002435	Meningocele
OMIM:606952	TYR	7299	HP:0000613	Photophobia
OMIM:606952	TYR	7299	HP:0001010	Hypopigmentation of the skin
OMIM:606952	TYR	7299	HP:0000639	Nystagmus
OMIM:606952	TYR	7299	HP:0000007	Autosomal recessive inheritance
OMIM:606952	TYR	7299	HP:0005599	Hypopigmentation of hair
OMIM:606952	TYR	7299	HP:0000505	Visual impairment
OMIM:606952	TYR	7299	HP:0001022	Albinism
OMIM:606952	TYR	7299	HP:0007894	Hypopigmentation of the fundus
OMIM:166210	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:166210	COL1A1	1277	HP:0002093	Respiratory insufficiency
OMIM:166210	COL1A1	1277	HP:0005623	Absent ossification of calvaria
OMIM:166210	COL1A1	1277	HP:0001518	Small for gestational age
OMIM:166210	COL1A1	1277	HP:0005855	Multiple prenatal fractures
OMIM:166210	COL1A1	1277	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166210	COL1A1	1277	HP:0001635	Congestive heart failure
OMIM:166210	COL1A1	1277	HP:0000444	Convex nasal ridge
OMIM:166210	COL1A1	1277	HP:0000963	Thin skin
OMIM:166210	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:166210	COL1A1	1277	HP:0005622	Broad long bones
OMIM:166210	COL1A1	1277	HP:0000239	Large fontanelles
OMIM:166210	COL1A1	1277	HP:0000923	Beaded ribs
OMIM:166210	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166210	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166210	COL1A1	1277	HP:0001790	Nonimmune hydrops fetalis
OMIM:166210	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166210	COL1A1	1277	HP:0006367	Crumpled long bones
OMIM:166210	COL1A1	1277	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	COL1A1	1277	HP:0010444	Pulmonary insufficiency
OMIM:166210	COL1A1	1277	HP:0001622	Premature birth
OMIM:166210	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:166210	COL1A2	1278	HP:0002093	Respiratory insufficiency
OMIM:166210	COL1A2	1278	HP:0005623	Absent ossification of calvaria
OMIM:166210	COL1A2	1278	HP:0001518	Small for gestational age
OMIM:166210	COL1A2	1278	HP:0005855	Multiple prenatal fractures
OMIM:166210	COL1A2	1278	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166210	COL1A2	1278	HP:0001635	Congestive heart failure
OMIM:166210	COL1A2	1278	HP:0000444	Convex nasal ridge
OMIM:166210	COL1A2	1278	HP:0000963	Thin skin
OMIM:166210	COL1A2	1278	HP:0002982	Tibial bowing
OMIM:166210	COL1A2	1278	HP:0005622	Broad long bones
OMIM:166210	COL1A2	1278	HP:0000239	Large fontanelles
OMIM:166210	COL1A2	1278	HP:0000923	Beaded ribs
OMIM:166210	COL1A2	1278	HP:0002645	Wormian bones
OMIM:166210	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:166210	COL1A2	1278	HP:0001790	Nonimmune hydrops fetalis
OMIM:166210	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:166210	COL1A2	1278	HP:0006367	Crumpled long bones
OMIM:166210	COL1A2	1278	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	COL1A2	1278	HP:0010444	Pulmonary insufficiency
OMIM:166210	COL1A2	1278	HP:0001622	Premature birth
OMIM:617364	PRKD1	5587	HP:0000691	Microdontia
OMIM:617364	PRKD1	5587	HP:0001263	Global developmental delay
OMIM:617364	PRKD1	5587	HP:0000252	Microcephaly
OMIM:617364	PRKD1	5587	HP:0001159	Syndactyly
OMIM:617364	PRKD1	5587	HP:0000963	Thin skin
OMIM:617364	PRKD1	5587	HP:0002209	Sparse scalp hair
OMIM:617364	PRKD1	5587	HP:0000006	Autosomal dominant inheritance
OMIM:617364	PRKD1	5587	HP:0001808	Fragile nails
OMIM:617364	PRKD1	5587	HP:0006323	Premature loss of primary teeth
OMIM:617364	PRKD1	5587	HP:0002650	Scoliosis
OMIM:617364	PRKD1	5587	HP:0011304	Broad thumb
OMIM:617364	PRKD1	5587	HP:0011220	Prominent forehead
OMIM:617364	PRKD1	5587	HP:0000639	Nystagmus
OMIM:617364	PRKD1	5587	HP:0000426	Prominent nasal bridge
OMIM:617364	PRKD1	5587	HP:0000958	Dry skin
OMIM:617364	PRKD1	5587	HP:0000687	Widely spaced teeth
OMIM:617364	PRKD1	5587	HP:0005280	Depressed nasal bridge
OMIM:617364	PRKD1	5587	HP:0000750	Delayed speech and language development
OMIM:617364	PRKD1	5587	HP:0001290	Generalized hypotonia
OMIM:617364	PRKD1	5587	HP:0011968	Feeding difficulties
OMIM:617330	EBF3	253738	HP:0000455	Broad nasal tip
OMIM:617330	EBF3	253738	HP:0001263	Global developmental delay
OMIM:617330	EBF3	253738	HP:0000276	Long face
OMIM:617330	EBF3	253738	HP:0000300	Oval face
OMIM:617330	EBF3	253738	HP:0001249	Intellectual disability
OMIM:617330	EBF3	253738	HP:0000325	Triangular face
OMIM:617330	EBF3	253738	HP:0000054	Micropenis
OMIM:617330	EBF3	253738	HP:0000490	Deeply set eye
OMIM:617330	EBF3	253738	HP:0000750	Delayed speech and language development
OMIM:617330	EBF3	253738	HP:0002186	Apraxia
OMIM:617330	EBF3	253738	HP:0002714	Downturned corners of mouth
OMIM:617330	EBF3	253738	HP:0011228	Horizontal eyebrow
OMIM:617330	EBF3	253738	HP:0003186	Inverted nipples
OMIM:617330	EBF3	253738	HP:0000028	Cryptorchidism
OMIM:617330	EBF3	253738	HP:0000219	Thin upper lip vermilion
OMIM:617330	EBF3	253738	HP:0003593	Infantile onset
OMIM:617330	EBF3	253738	HP:0000426	Prominent nasal bridge
OMIM:617330	EBF3	253738	HP:0000664	Synophrys
OMIM:617330	EBF3	253738	HP:0011822	Broad chin
OMIM:617330	EBF3	253738	HP:0000331	Short chin
OMIM:617330	EBF3	253738	HP:0002020	Gastroesophageal reflux
OMIM:617330	EBF3	253738	HP:0000483	Astigmatism
OMIM:617330	EBF3	253738	HP:0001310	Dysmetria
OMIM:617330	EBF3	253738	HP:0000733	Stereotypy
OMIM:617330	EBF3	253738	HP:0002015	Dysphagia
OMIM:617330	EBF3	253738	HP:0000286	Epicanthus
OMIM:617330	EBF3	253738	HP:0002058	Myopathic facies
OMIM:617330	EBF3	253738	HP:0000316	Hypertelorism
OMIM:617330	EBF3	253738	HP:0000348	High forehead
OMIM:617330	EBF3	253738	HP:0000396	Overfolded helix
OMIM:617330	EBF3	253738	HP:0000006	Autosomal dominant inheritance
OMIM:617330	EBF3	253738	HP:0001290	Generalized hypotonia
OMIM:617330	EBF3	253738	HP:0000494	Downslanted palpebral fissures
OMIM:617330	EBF3	253738	HP:0000486	Strabismus
OMIM:617330	EBF3	253738	HP:0002002	Deep philtrum
OMIM:617330	EBF3	253738	HP:0000369	Low-set ears
OMIM:617330	EBF3	253738	HP:0000076	Vesicoureteral reflux
OMIM:617330	EBF3	253738	HP:0000358	Posteriorly rotated ears
OMIM:617330	EBF3	253738	HP:0001260	Dysarthria
OMIM:617330	EBF3	253738	HP:0011220	Prominent forehead
ORPHA:1555	FGFR2	2263	HP:0000982	Palmoplantar keratoderma
ORPHA:1555	FGFR2	2263	HP:0001363	Craniosynostosis
ORPHA:1555	FGFR2	2263	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1555	FGFR2	2263	HP:0000272	Malar flattening
ORPHA:1555	FGFR2	2263	HP:0000508	Ptosis
ORPHA:1555	FGFR2	2263	HP:0004450	Preauricular skin furrow
ORPHA:1555	FGFR2	2263	HP:0001482	Subcutaneous nodule
ORPHA:1555	FGFR2	2263	HP:0000189	Narrow palate
ORPHA:1555	FGFR2	2263	HP:0000364	Hearing abnormality
ORPHA:1555	FGFR2	2263	HP:0000262	Turricephaly
ORPHA:1555	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:1555	FGFR2	2263	HP:0100761	Visceral angiomatosis
ORPHA:1555	FGFR2	2263	HP:0000520	Proptosis
ORPHA:1555	FGFR2	2263	HP:0000400	Macrotia
ORPHA:1555	FGFR2	2263	HP:0007469	Palmoplantar cutis gyrata
ORPHA:1555	FGFR2	2263	HP:0000453	Choanal atresia
ORPHA:1555	FGFR2	2263	HP:0000268	Dolichocephaly
ORPHA:1555	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:1555	FGFR2	2263	HP:0002098	Respiratory distress
ORPHA:1555	FGFR2	2263	HP:0002676	Cloverleaf skull
ORPHA:1555	FGFR2	2263	HP:0000048	Bifid scrotum
ORPHA:1555	FGFR2	2263	HP:0001732	Abnormality of the pancreas
ORPHA:1555	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
ORPHA:1555	FGFR2	2263	HP:0000956	Acanthosis nigricans
ORPHA:1555	FGFR2	2263	HP:0000995	Melanocytic nevus
ORPHA:1555	FGFR2	2263	HP:0003246	Prominent scrotal raphe
ORPHA:1555	FGFR2	2263	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:1555	FGFR2	2263	HP:0009804	Reduced number of teeth
OMIM:224500	HPCA	3208	HP:0000473	Torticollis
OMIM:224500	HPCA	3208	HP:0002015	Dysphagia
OMIM:224500	HPCA	3208	HP:0003621	Juvenile onset
OMIM:224500	HPCA	3208	HP:0000007	Autosomal recessive inheritance
OMIM:224500	HPCA	3208	HP:0001337	Tremor
OMIM:224500	HPCA	3208	HP:0001304	Torsion dystonia
OMIM:224500	HPCA	3208	HP:0003677	Slow progression
OMIM:224500	HPCA	3208	HP:0000643	Blepharospasm
OMIM:224500	HPCA	3208	HP:0001260	Dysarthria
ORPHA:48652	SHANK3	85358	HP:0000272	Malar flattening
ORPHA:48652	SHANK3	85358	HP:0000729	Autistic behavior
ORPHA:48652	SHANK3	85358	HP:0000750	Delayed speech and language development
ORPHA:48652	SHANK3	85358	HP:0005616	Accelerated skeletal maturation
ORPHA:48652	SHANK3	85358	HP:0000574	Thick eyebrow
ORPHA:48652	SHANK3	85358	HP:0003763	Bruxism
ORPHA:48652	SHANK3	85358	HP:0100540	Palpebral edema
ORPHA:48652	SHANK3	85358	HP:0000431	Wide nasal bridge
ORPHA:48652	SHANK3	85358	HP:0000490	Deeply set eye
ORPHA:48652	SHANK3	85358	HP:0001319	Neonatal hypotonia
ORPHA:48652	SHANK3	85358	HP:0000268	Dolichocephaly
ORPHA:48652	SHANK3	85358	HP:0000400	Macrotia
ORPHA:48652	SHANK3	85358	HP:0000293	Full cheeks
ORPHA:48652	SHANK3	85358	HP:0000752	Hyperactivity
ORPHA:48652	SHANK3	85358	HP:0000508	Ptosis
ORPHA:48652	SHANK3	85358	HP:0002721	Immunodeficiency
ORPHA:48652	SHANK3	85358	HP:0007328	Impaired pain sensation
ORPHA:48652	SHANK3	85358	HP:0000527	Long eyelashes
ORPHA:48652	SHANK3	85358	HP:0000414	Bulbous nose
ORPHA:48652	SHANK3	85358	HP:0000960	Sacral dimple
ORPHA:48652	SHANK3	85358	HP:0001800	Hypoplastic toenails
ORPHA:48652	SHANK3	85358	HP:0000307	Pointed chin
ORPHA:48652	SHANK3	85358	HP:0000966	Hypohidrosis
ORPHA:48652	SHANK3	85358	HP:0011968	Feeding difficulties
ORPHA:48652	SHANK3	85358	HP:0001176	Large hands
ORPHA:85284	MBTPS2	51360	HP:0001263	Global developmental delay
ORPHA:85284	MBTPS2	51360	HP:0002251	Aganglionic megacolon
ORPHA:85284	MBTPS2	51360	HP:0010864	Intellectual disability, severe
ORPHA:85284	MBTPS2	51360	HP:0000076	Vesicoureteral reflux
ORPHA:85284	MBTPS2	51360	HP:0001511	Intrauterine growth retardation
ORPHA:85284	MBTPS2	51360	HP:0008734	Decreased testicular size
ORPHA:85284	MBTPS2	51360	HP:0001357	Plagiocephaly
ORPHA:85284	MBTPS2	51360	HP:0000411	Protruding ear
ORPHA:85284	MBTPS2	51360	HP:0002650	Scoliosis
ORPHA:85284	MBTPS2	51360	HP:0005343	Hypoplasia of the bladder
ORPHA:85284	MBTPS2	51360	HP:0000365	Hearing impairment
ORPHA:85284	MBTPS2	51360	HP:0000252	Microcephaly
ORPHA:85284	MBTPS2	51360	HP:0000369	Low-set ears
ORPHA:85284	MBTPS2	51360	HP:0003811	Neonatal death
ORPHA:85284	MBTPS2	51360	HP:0000568	Microphthalmia
ORPHA:85284	MBTPS2	51360	HP:0001162	Postaxial hand polydactyly
ORPHA:85284	MBTPS2	51360	HP:0001596	Alopecia
ORPHA:85284	MBTPS2	51360	HP:0000028	Cryptorchidism
ORPHA:85284	MBTPS2	51360	HP:0000609	Optic nerve hypoplasia
ORPHA:85284	MBTPS2	51360	HP:0000110	Renal dysplasia
ORPHA:85284	MBTPS2	51360	HP:0000175	Cleft palate
ORPHA:85284	MBTPS2	51360	HP:0002937	Hemivertebrae
ORPHA:85284	MBTPS2	51360	HP:0000089	Renal hypoplasia
ORPHA:85284	MBTPS2	51360	HP:0000238	Hydrocephalus
ORPHA:85284	MBTPS2	51360	HP:0000612	Iris coloboma
ORPHA:85284	MBTPS2	51360	HP:0000444	Convex nasal ridge
OMIM:105550	C9ORF72	203228	HP:0002442	Dyscalculia
OMIM:105550	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	C9ORF72	203228	HP:0002145	Frontotemporal dementia
OMIM:105550	C9ORF72	203228	HP:0003581	Adult onset
OMIM:105550	C9ORF72	203228	HP:0000741	Apathy
OMIM:105550	C9ORF72	203228	HP:0002059	Cerebral atrophy
OMIM:105550	C9ORF72	203228	HP:0002385	Paraparesis
OMIM:105550	C9ORF72	203228	HP:0002273	Tetraparesis
OMIM:105550	C9ORF72	203228	HP:0003678	Rapidly progressive
OMIM:105550	C9ORF72	203228	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	C9ORF72	203228	HP:0000738	Hallucinations
OMIM:105550	C9ORF72	203228	HP:0000746	Delusions
OMIM:105550	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:105550	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:105550	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:105550	C9ORF72	203228	HP:0000716	Depressivity
OMIM:105550	C9ORF72	203228	HP:0007308	Extrapyramidal dyskinesia
OMIM:105550	C9ORF72	203228	HP:0002171	Gliosis
OMIM:105550	C9ORF72	203228	HP:0001300	Parkinsonism
OMIM:105550	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:105550	C9ORF72	203228	HP:0002186	Apraxia
OMIM:611302	KIF1C	10749	HP:0000666	Horizontal nystagmus
OMIM:611302	KIF1C	10749	HP:0001310	Dysmetria
OMIM:611302	KIF1C	10749	HP:0000007	Autosomal recessive inheritance
OMIM:611302	KIF1C	10749	HP:0003676	Progressive
OMIM:611302	KIF1C	10749	HP:0002066	Gait ataxia
OMIM:611302	KIF1C	10749	HP:0002497	Spastic ataxia
OMIM:611302	KIF1C	10749	HP:0002599	Head titubation
OMIM:611302	KIF1C	10749	HP:0001260	Dysarthria
OMIM:611302	KIF1C	10749	HP:0003487	Babinski sign
OMIM:611302	KIF1C	10749	HP:0001257	Spasticity
OMIM:611302	KIF1C	10749	HP:0002359	Frequent falls
OMIM:611302	KIF1C	10749	HP:0002380	Fasciculations
OMIM:611302	KIF1C	10749	HP:0001347	Hyperreflexia
OMIM:611302	KIF1C	10749	HP:0003693	Distal amyotrophy
OMIM:132600	MUTYH	4595	HP:0030434	Pilomatrixoma
OMIM:132600	MUTYH	4595	HP:0000006	Autosomal dominant inheritance
OMIM:132600	MUTYH	4595	HP:0001428	Somatic mutation
OMIM:132600	CTNNB1	1499	HP:0030434	Pilomatrixoma
OMIM:132600	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:132600	CTNNB1	1499	HP:0001428	Somatic mutation
OMIM:602722	ATP6V0A4	50617	HP:0002013	Vomiting
OMIM:602722	ATP6V0A4	50617	HP:0000007	Autosomal recessive inheritance
OMIM:602722	ATP6V0A4	50617	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:602722	ATP6V0A4	50617	HP:0000121	Nephrocalcinosis
OMIM:602722	ATP6V0A4	50617	HP:0001510	Growth delay
OMIM:602722	ATP6V0A4	50617	HP:0001508	Failure to thrive
OMIM:602722	ATP6V0A4	50617	HP:0001944	Dehydration
OMIM:602722	ATP6V0A4	50617	HP:0008341	Distal renal tubular acidosis
ORPHA:1606	SKI	6497	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1606	SKI	6497	HP:0100716	Self-injurious behavior
ORPHA:1606	SKI	6497	HP:0011228	Horizontal eyebrow
ORPHA:1606	SKI	6497	HP:0000431	Wide nasal bridge
ORPHA:1606	SKI	6497	HP:0008499	High-grade hypermetropia
ORPHA:1606	SKI	6497	HP:0005280	Depressed nasal bridge
ORPHA:1606	SKI	6497	HP:0002015	Dysphagia
ORPHA:1606	SKI	6497	HP:0001250	Seizures
ORPHA:1606	SKI	6497	HP:0000490	Deeply set eye
ORPHA:1606	SKI	6497	HP:0002020	Gastroesophageal reflux
ORPHA:1606	SKI	6497	HP:0001344	Absent speech
ORPHA:1606	SKI	6497	HP:0000270	Delayed cranial suture closure
ORPHA:1606	SKI	6497	HP:0002120	Cerebral cortical atrophy
ORPHA:1606	SKI	6497	HP:0002465	Poor speech
ORPHA:1606	SKI	6497	HP:0000160	Narrow mouth
ORPHA:1606	SKI	6497	HP:0000733	Stereotypy
ORPHA:1606	SKI	6497	HP:0001252	Muscular hypotonia
ORPHA:1606	SKI	6497	HP:0001263	Global developmental delay
ORPHA:1606	SKI	6497	HP:0100490	Camptodactyly of finger
ORPHA:1606	SKI	6497	HP:0000457	Depressed nasal ridge
ORPHA:1606	SKI	6497	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1606	SKI	6497	HP:0002119	Ventriculomegaly
ORPHA:1606	SKI	6497	HP:0001274	Agenesis of corpus callosum
ORPHA:1606	SKI	6497	HP:0001156	Brachydactyly
ORPHA:1606	SKI	6497	HP:0000717	Autism
ORPHA:1606	SKI	6497	HP:0000248	Brachycephaly
ORPHA:1606	SKI	6497	HP:0002019	Constipation
ORPHA:1606	SKI	6497	HP:0001508	Failure to thrive
ORPHA:1606	SKI	6497	HP:0008872	Feeding difficulties in infancy
ORPHA:1606	SKI	6497	HP:0011800	Midface retrusion
ORPHA:1606	SKI	6497	HP:0000286	Epicanthus
ORPHA:1606	SKI	6497	HP:0002353	EEG abnormality
ORPHA:1606	SKI	6497	HP:0000307	Pointed chin
ORPHA:1606	SKI	6497	HP:0001249	Intellectual disability
ORPHA:1606	SKI	6497	HP:0001773	Short foot
ORPHA:1606	SKI	6497	HP:0001288	Gait disturbance
ORPHA:1606	SKI	6497	HP:0000343	Long philtrum
ORPHA:1606	SKI	6497	HP:0000486	Strabismus
ORPHA:1606	SKI	6497	HP:0000252	Microcephaly
ORPHA:1606	KCNAB2	8514	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1606	KCNAB2	8514	HP:0100716	Self-injurious behavior
ORPHA:1606	KCNAB2	8514	HP:0011228	Horizontal eyebrow
ORPHA:1606	KCNAB2	8514	HP:0000431	Wide nasal bridge
ORPHA:1606	KCNAB2	8514	HP:0008499	High-grade hypermetropia
ORPHA:1606	KCNAB2	8514	HP:0005280	Depressed nasal bridge
ORPHA:1606	KCNAB2	8514	HP:0002015	Dysphagia
ORPHA:1606	KCNAB2	8514	HP:0001250	Seizures
ORPHA:1606	KCNAB2	8514	HP:0000490	Deeply set eye
ORPHA:1606	KCNAB2	8514	HP:0002020	Gastroesophageal reflux
ORPHA:1606	KCNAB2	8514	HP:0001344	Absent speech
ORPHA:1606	KCNAB2	8514	HP:0000270	Delayed cranial suture closure
ORPHA:1606	KCNAB2	8514	HP:0002120	Cerebral cortical atrophy
ORPHA:1606	KCNAB2	8514	HP:0002465	Poor speech
ORPHA:1606	KCNAB2	8514	HP:0000160	Narrow mouth
ORPHA:1606	KCNAB2	8514	HP:0000733	Stereotypy
ORPHA:1606	KCNAB2	8514	HP:0001252	Muscular hypotonia
ORPHA:1606	KCNAB2	8514	HP:0001263	Global developmental delay
ORPHA:1606	KCNAB2	8514	HP:0100490	Camptodactyly of finger
ORPHA:1606	KCNAB2	8514	HP:0000457	Depressed nasal ridge
ORPHA:1606	KCNAB2	8514	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1606	KCNAB2	8514	HP:0002119	Ventriculomegaly
ORPHA:1606	KCNAB2	8514	HP:0001274	Agenesis of corpus callosum
ORPHA:1606	KCNAB2	8514	HP:0001156	Brachydactyly
ORPHA:1606	KCNAB2	8514	HP:0000717	Autism
ORPHA:1606	KCNAB2	8514	HP:0000248	Brachycephaly
ORPHA:1606	KCNAB2	8514	HP:0002019	Constipation
ORPHA:1606	KCNAB2	8514	HP:0001508	Failure to thrive
ORPHA:1606	KCNAB2	8514	HP:0008872	Feeding difficulties in infancy
ORPHA:1606	KCNAB2	8514	HP:0011800	Midface retrusion
ORPHA:1606	KCNAB2	8514	HP:0000286	Epicanthus
ORPHA:1606	KCNAB2	8514	HP:0002353	EEG abnormality
ORPHA:1606	KCNAB2	8514	HP:0000307	Pointed chin
ORPHA:1606	KCNAB2	8514	HP:0001249	Intellectual disability
ORPHA:1606	KCNAB2	8514	HP:0001773	Short foot
ORPHA:1606	KCNAB2	8514	HP:0001288	Gait disturbance
ORPHA:1606	KCNAB2	8514	HP:0000343	Long philtrum
ORPHA:1606	KCNAB2	8514	HP:0000486	Strabismus
ORPHA:1606	KCNAB2	8514	HP:0000252	Microcephaly
ORPHA:1606	GABRD	2563	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1606	GABRD	2563	HP:0100716	Self-injurious behavior
ORPHA:1606	GABRD	2563	HP:0011228	Horizontal eyebrow
ORPHA:1606	GABRD	2563	HP:0000431	Wide nasal bridge
ORPHA:1606	GABRD	2563	HP:0008499	High-grade hypermetropia
ORPHA:1606	GABRD	2563	HP:0005280	Depressed nasal bridge
ORPHA:1606	GABRD	2563	HP:0002015	Dysphagia
ORPHA:1606	GABRD	2563	HP:0001250	Seizures
ORPHA:1606	GABRD	2563	HP:0000490	Deeply set eye
ORPHA:1606	GABRD	2563	HP:0002020	Gastroesophageal reflux
ORPHA:1606	GABRD	2563	HP:0001344	Absent speech
ORPHA:1606	GABRD	2563	HP:0000270	Delayed cranial suture closure
ORPHA:1606	GABRD	2563	HP:0002120	Cerebral cortical atrophy
ORPHA:1606	GABRD	2563	HP:0002465	Poor speech
ORPHA:1606	GABRD	2563	HP:0000160	Narrow mouth
ORPHA:1606	GABRD	2563	HP:0000733	Stereotypy
ORPHA:1606	GABRD	2563	HP:0001252	Muscular hypotonia
ORPHA:1606	GABRD	2563	HP:0001263	Global developmental delay
ORPHA:1606	GABRD	2563	HP:0100490	Camptodactyly of finger
ORPHA:1606	GABRD	2563	HP:0000457	Depressed nasal ridge
ORPHA:1606	GABRD	2563	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1606	GABRD	2563	HP:0002119	Ventriculomegaly
ORPHA:1606	GABRD	2563	HP:0001274	Agenesis of corpus callosum
ORPHA:1606	GABRD	2563	HP:0001156	Brachydactyly
ORPHA:1606	GABRD	2563	HP:0000717	Autism
ORPHA:1606	GABRD	2563	HP:0000248	Brachycephaly
ORPHA:1606	GABRD	2563	HP:0002019	Constipation
ORPHA:1606	GABRD	2563	HP:0001508	Failure to thrive
ORPHA:1606	GABRD	2563	HP:0008872	Feeding difficulties in infancy
ORPHA:1606	GABRD	2563	HP:0011800	Midface retrusion
ORPHA:1606	GABRD	2563	HP:0000286	Epicanthus
ORPHA:1606	GABRD	2563	HP:0002353	EEG abnormality
ORPHA:1606	GABRD	2563	HP:0000307	Pointed chin
ORPHA:1606	GABRD	2563	HP:0001249	Intellectual disability
ORPHA:1606	GABRD	2563	HP:0001773	Short foot
ORPHA:1606	GABRD	2563	HP:0001288	Gait disturbance
ORPHA:1606	GABRD	2563	HP:0000343	Long philtrum
ORPHA:1606	GABRD	2563	HP:0000486	Strabismus
ORPHA:1606	GABRD	2563	HP:0000252	Microcephaly
ORPHA:1606	PRDM16	63976	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1606	PRDM16	63976	HP:0100716	Self-injurious behavior
ORPHA:1606	PRDM16	63976	HP:0011228	Horizontal eyebrow
ORPHA:1606	PRDM16	63976	HP:0000431	Wide nasal bridge
ORPHA:1606	PRDM16	63976	HP:0008499	High-grade hypermetropia
ORPHA:1606	PRDM16	63976	HP:0005280	Depressed nasal bridge
ORPHA:1606	PRDM16	63976	HP:0002015	Dysphagia
ORPHA:1606	PRDM16	63976	HP:0001250	Seizures
ORPHA:1606	PRDM16	63976	HP:0000490	Deeply set eye
ORPHA:1606	PRDM16	63976	HP:0002020	Gastroesophageal reflux
ORPHA:1606	PRDM16	63976	HP:0001344	Absent speech
ORPHA:1606	PRDM16	63976	HP:0000270	Delayed cranial suture closure
ORPHA:1606	PRDM16	63976	HP:0002120	Cerebral cortical atrophy
ORPHA:1606	PRDM16	63976	HP:0002465	Poor speech
ORPHA:1606	PRDM16	63976	HP:0000160	Narrow mouth
ORPHA:1606	PRDM16	63976	HP:0000733	Stereotypy
ORPHA:1606	PRDM16	63976	HP:0001252	Muscular hypotonia
ORPHA:1606	PRDM16	63976	HP:0001263	Global developmental delay
ORPHA:1606	PRDM16	63976	HP:0100490	Camptodactyly of finger
ORPHA:1606	PRDM16	63976	HP:0000457	Depressed nasal ridge
ORPHA:1606	PRDM16	63976	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1606	PRDM16	63976	HP:0002119	Ventriculomegaly
ORPHA:1606	PRDM16	63976	HP:0001274	Agenesis of corpus callosum
ORPHA:1606	PRDM16	63976	HP:0001156	Brachydactyly
ORPHA:1606	PRDM16	63976	HP:0000717	Autism
ORPHA:1606	PRDM16	63976	HP:0000248	Brachycephaly
ORPHA:1606	PRDM16	63976	HP:0002019	Constipation
ORPHA:1606	PRDM16	63976	HP:0001508	Failure to thrive
ORPHA:1606	PRDM16	63976	HP:0008872	Feeding difficulties in infancy
ORPHA:1606	PRDM16	63976	HP:0011800	Midface retrusion
ORPHA:1606	PRDM16	63976	HP:0000286	Epicanthus
ORPHA:1606	PRDM16	63976	HP:0002353	EEG abnormality
ORPHA:1606	PRDM16	63976	HP:0000307	Pointed chin
ORPHA:1606	PRDM16	63976	HP:0001249	Intellectual disability
ORPHA:1606	PRDM16	63976	HP:0001773	Short foot
ORPHA:1606	PRDM16	63976	HP:0001288	Gait disturbance
ORPHA:1606	PRDM16	63976	HP:0000343	Long philtrum
ORPHA:1606	PRDM16	63976	HP:0000486	Strabismus
ORPHA:1606	PRDM16	63976	HP:0000252	Microcephaly
ORPHA:1606	RERE	473	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1606	RERE	473	HP:0100716	Self-injurious behavior
ORPHA:1606	RERE	473	HP:0011228	Horizontal eyebrow
ORPHA:1606	RERE	473	HP:0000431	Wide nasal bridge
ORPHA:1606	RERE	473	HP:0008499	High-grade hypermetropia
ORPHA:1606	RERE	473	HP:0005280	Depressed nasal bridge
ORPHA:1606	RERE	473	HP:0002015	Dysphagia
ORPHA:1606	RERE	473	HP:0001250	Seizures
ORPHA:1606	RERE	473	HP:0000490	Deeply set eye
ORPHA:1606	RERE	473	HP:0002020	Gastroesophageal reflux
ORPHA:1606	RERE	473	HP:0001344	Absent speech
ORPHA:1606	RERE	473	HP:0000270	Delayed cranial suture closure
ORPHA:1606	RERE	473	HP:0002120	Cerebral cortical atrophy
ORPHA:1606	RERE	473	HP:0002465	Poor speech
ORPHA:1606	RERE	473	HP:0000160	Narrow mouth
ORPHA:1606	RERE	473	HP:0000733	Stereotypy
ORPHA:1606	RERE	473	HP:0001252	Muscular hypotonia
ORPHA:1606	RERE	473	HP:0001263	Global developmental delay
ORPHA:1606	RERE	473	HP:0100490	Camptodactyly of finger
ORPHA:1606	RERE	473	HP:0000457	Depressed nasal ridge
ORPHA:1606	RERE	473	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1606	RERE	473	HP:0002119	Ventriculomegaly
ORPHA:1606	RERE	473	HP:0001274	Agenesis of corpus callosum
ORPHA:1606	RERE	473	HP:0001156	Brachydactyly
ORPHA:1606	RERE	473	HP:0000717	Autism
ORPHA:1606	RERE	473	HP:0000248	Brachycephaly
ORPHA:1606	RERE	473	HP:0002019	Constipation
ORPHA:1606	RERE	473	HP:0001508	Failure to thrive
ORPHA:1606	RERE	473	HP:0008872	Feeding difficulties in infancy
ORPHA:1606	RERE	473	HP:0011800	Midface retrusion
ORPHA:1606	RERE	473	HP:0000286	Epicanthus
ORPHA:1606	RERE	473	HP:0002353	EEG abnormality
ORPHA:1606	RERE	473	HP:0000307	Pointed chin
ORPHA:1606	RERE	473	HP:0001249	Intellectual disability
ORPHA:1606	RERE	473	HP:0001773	Short foot
ORPHA:1606	RERE	473	HP:0001288	Gait disturbance
ORPHA:1606	RERE	473	HP:0000343	Long philtrum
ORPHA:1606	RERE	473	HP:0000486	Strabismus
ORPHA:1606	RERE	473	HP:0000252	Microcephaly
OMIM:617320	CASP14	23581	HP:0000007	Autosomal recessive inheritance
OMIM:617320	CASP14	23581	HP:0040190	White scaling skin
OMIM:613808	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:613808	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC40	55036	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
OMIM:613808	CCDC40	55036	HP:0012265	Ciliary dyskinesia
OMIM:613808	CCDC40	55036	HP:0000246	Sinusitis
OMIM:613808	CCDC40	55036	HP:0000789	Infertility
OMIM:613808	CCDC40	55036	HP:0000403	Recurrent otitis media
ORPHA:242	SRY	6736	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	SRY	6736	HP:0000037	Male pseudohermaphroditism
ORPHA:242	SRY	6736	HP:0008715	Testicular dysgenesis
ORPHA:242	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:242	DMRT1	1761	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	DMRT1	1761	HP:0000037	Male pseudohermaphroditism
ORPHA:242	DMRT1	1761	HP:0008715	Testicular dysgenesis
ORPHA:242	DMRT1	1761	HP:0000147	Polycystic ovaries
ORPHA:242	WT1	7490	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	WT1	7490	HP:0000037	Male pseudohermaphroditism
ORPHA:242	WT1	7490	HP:0008715	Testicular dysgenesis
ORPHA:242	WT1	7490	HP:0000147	Polycystic ovaries
ORPHA:242	NR5A1	2516	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	NR5A1	2516	HP:0000037	Male pseudohermaphroditism
ORPHA:242	NR5A1	2516	HP:0008715	Testicular dysgenesis
ORPHA:242	NR5A1	2516	HP:0000147	Polycystic ovaries
ORPHA:242	SOX9	6662	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	SOX9	6662	HP:0000037	Male pseudohermaphroditism
ORPHA:242	SOX9	6662	HP:0008715	Testicular dysgenesis
ORPHA:242	SOX9	6662	HP:0000147	Polycystic ovaries
ORPHA:242	MAP3K1	4214	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	MAP3K1	4214	HP:0000037	Male pseudohermaphroditism
ORPHA:242	MAP3K1	4214	HP:0008715	Testicular dysgenesis
ORPHA:242	MAP3K1	4214	HP:0000147	Polycystic ovaries
ORPHA:242	CBX2	84733	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	CBX2	84733	HP:0000037	Male pseudohermaphroditism
ORPHA:242	CBX2	84733	HP:0008715	Testicular dysgenesis
ORPHA:242	CBX2	84733	HP:0000147	Polycystic ovaries
ORPHA:242	DHH	50846	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	DHH	50846	HP:0000037	Male pseudohermaphroditism
ORPHA:242	DHH	50846	HP:0008715	Testicular dysgenesis
ORPHA:242	DHH	50846	HP:0000147	Polycystic ovaries
ORPHA:242	NR0B1	190	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	NR0B1	190	HP:0000037	Male pseudohermaphroditism
ORPHA:242	NR0B1	190	HP:0008715	Testicular dysgenesis
ORPHA:242	NR0B1	190	HP:0000147	Polycystic ovaries
OMIM:260565	CCDC88A	55704	HP:0003469	Peripheral dysmyelination
OMIM:260565	CCDC88A	55704	HP:0000278	Retrognathia
OMIM:260565	CCDC88A	55704	HP:0000253	Progressive microcephaly
OMIM:260565	CCDC88A	55704	HP:0001250	Seizures
OMIM:260565	CCDC88A	55704	HP:0000007	Autosomal recessive inheritance
OMIM:260565	CCDC88A	55704	HP:0000286	Epicanthus
OMIM:260565	CCDC88A	55704	HP:0000194	Open mouth
OMIM:260565	CCDC88A	55704	HP:0001336	Myoclonus
OMIM:260565	CCDC88A	55704	HP:0001155	Abnormality of the hand
OMIM:260565	CCDC88A	55704	HP:0002126	Polymicrogyria
OMIM:260565	CCDC88A	55704	HP:0007965	Undetectable visual evoked potentials
OMIM:260565	CCDC88A	55704	HP:0008872	Feeding difficulties in infancy
OMIM:260565	CCDC88A	55704	HP:0002529	Neuronal loss in central nervous system
OMIM:260565	CCDC88A	55704	HP:0000293	Full cheeks
OMIM:260565	CCDC88A	55704	HP:0006829	Severe muscular hypotonia
OMIM:260565	CCDC88A	55704	HP:0007105	Infantile encephalopathy
OMIM:260565	CCDC88A	55704	HP:0002079	Hypoplasia of the corpus callosum
OMIM:260565	CCDC88A	55704	HP:0000969	Edema
OMIM:260565	CCDC88A	55704	HP:0001272	Cerebellar atrophy
OMIM:260565	CCDC88A	55704	HP:0002187	Intellectual disability, profound
OMIM:260565	CCDC88A	55704	HP:0001263	Global developmental delay
OMIM:260565	CCDC88A	55704	HP:0010804	Tented upper lip vermilion
OMIM:260565	CCDC88A	55704	HP:0003196	Short nose
OMIM:260565	CCDC88A	55704	HP:0001302	Pachygyria
OMIM:260565	CCDC88A	55704	HP:0002521	Hypsarrhythmia
OMIM:260565	CCDC88A	55704	HP:0000648	Optic atrophy
OMIM:260565	CCDC88A	55704	HP:0001347	Hyperreflexia
OMIM:260565	CCDC88A	55704	HP:0000341	Narrow forehead
OMIM:260565	CCDC88A	55704	HP:0007281	Developmental stagnation
OMIM:260565	ZNHIT3	9326	HP:0003469	Peripheral dysmyelination
OMIM:260565	ZNHIT3	9326	HP:0000278	Retrognathia
OMIM:260565	ZNHIT3	9326	HP:0000253	Progressive microcephaly
OMIM:260565	ZNHIT3	9326	HP:0001250	Seizures
OMIM:260565	ZNHIT3	9326	HP:0000007	Autosomal recessive inheritance
OMIM:260565	ZNHIT3	9326	HP:0000286	Epicanthus
OMIM:260565	ZNHIT3	9326	HP:0000194	Open mouth
OMIM:260565	ZNHIT3	9326	HP:0001336	Myoclonus
OMIM:260565	ZNHIT3	9326	HP:0001155	Abnormality of the hand
OMIM:260565	ZNHIT3	9326	HP:0002126	Polymicrogyria
OMIM:260565	ZNHIT3	9326	HP:0007965	Undetectable visual evoked potentials
OMIM:260565	ZNHIT3	9326	HP:0008872	Feeding difficulties in infancy
OMIM:260565	ZNHIT3	9326	HP:0002529	Neuronal loss in central nervous system
OMIM:260565	ZNHIT3	9326	HP:0000293	Full cheeks
OMIM:260565	ZNHIT3	9326	HP:0006829	Severe muscular hypotonia
OMIM:260565	ZNHIT3	9326	HP:0007105	Infantile encephalopathy
OMIM:260565	ZNHIT3	9326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:260565	ZNHIT3	9326	HP:0000969	Edema
OMIM:260565	ZNHIT3	9326	HP:0001272	Cerebellar atrophy
OMIM:260565	ZNHIT3	9326	HP:0002187	Intellectual disability, profound
OMIM:260565	ZNHIT3	9326	HP:0001263	Global developmental delay
OMIM:260565	ZNHIT3	9326	HP:0010804	Tented upper lip vermilion
OMIM:260565	ZNHIT3	9326	HP:0003196	Short nose
OMIM:260565	ZNHIT3	9326	HP:0001302	Pachygyria
OMIM:260565	ZNHIT3	9326	HP:0002521	Hypsarrhythmia
OMIM:260565	ZNHIT3	9326	HP:0000648	Optic atrophy
OMIM:260565	ZNHIT3	9326	HP:0001347	Hyperreflexia
OMIM:260565	ZNHIT3	9326	HP:0000341	Narrow forehead
OMIM:260565	ZNHIT3	9326	HP:0007281	Developmental stagnation
OMIM:614809	CFHR5	81494	HP:0003676	Progressive
OMIM:614809	CFHR5	81494	HP:0000006	Autosomal dominant inheritance
OMIM:614809	CFHR5	81494	HP:0003774	Stage 5 chronic kidney disease
OMIM:614809	CFHR5	81494	HP:0000099	Glomerulonephritis
OMIM:614809	CFHR5	81494	HP:0000790	Hematuria
ORPHA:286	COL3A1	1281	HP:0100543	Cognitive impairment
ORPHA:286	COL3A1	1281	HP:0001263	Global developmental delay
ORPHA:286	COL3A1	1281	HP:0012368	Flat face
ORPHA:286	COL3A1	1281	HP:0000286	Epicanthus
ORPHA:286	COL3A1	1281	HP:0001634	Mitral valve prolapse
ORPHA:286	COL3A1	1281	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:286	COL3A1	1281	HP:0000978	Bruising susceptibility
ORPHA:286	COL3A1	1281	HP:0005294	Arterial dissection
ORPHA:286	COL3A1	1281	HP:0000190	Abnormality of oral frenula
ORPHA:286	COL3A1	1281	HP:0012733	Macule
ORPHA:286	COL3A1	1281	HP:0000316	Hypertelorism
ORPHA:286	COL3A1	1281	HP:0010648	Dermal translucency
ORPHA:286	COL3A1	1281	HP:0100585	Telangiectasia of the skin
ORPHA:286	COL3A1	1281	HP:0005244	Gastrointestinal infarctions
ORPHA:286	COL3A1	1281	HP:0011029	Internal hemorrhage
ORPHA:286	COL3A1	1281	HP:0000499	Abnormality of the eyelashes
ORPHA:286	COL3A1	1281	HP:0000670	Carious teeth
ORPHA:286	COL3A1	1281	HP:0000767	Pectus excavatum
ORPHA:286	COL3A1	1281	HP:0000028	Cryptorchidism
ORPHA:286	COL3A1	1281	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
ORPHA:286	COL3A1	1281	HP:0100784	Peripheral arteriovenous fistula
ORPHA:286	COL3A1	1281	HP:0000995	Melanocytic nevus
ORPHA:286	COL3A1	1281	HP:0000233	Thin vermilion border
ORPHA:286	COL3A1	1281	HP:0001622	Premature birth
ORPHA:286	COL3A1	1281	HP:0000520	Proptosis
ORPHA:286	COL3A1	1281	HP:0000912	Sprengel anomaly
ORPHA:286	COL3A1	1281	HP:0000501	Glaucoma
ORPHA:286	COL3A1	1281	HP:0002107	Pneumothorax
ORPHA:286	COL3A1	1281	HP:0002619	Varicose veins
ORPHA:286	COL3A1	1281	HP:0000015	Bladder diverticulum
ORPHA:286	COL3A1	1281	HP:0001762	Talipes equinovarus
ORPHA:286	COL3A1	1281	HP:0000963	Thin skin
ORPHA:286	COL3A1	1281	HP:0002093	Respiratory insufficiency
ORPHA:286	COL3A1	1281	HP:0002900	Hypokalemia
ORPHA:286	COL3A1	1281	HP:0000411	Protruding ear
ORPHA:286	COL3A1	1281	HP:0002647	Aortic dissection
ORPHA:286	COL3A1	1281	HP:0004322	Short stature
ORPHA:286	COL3A1	1281	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:286	COL3A1	1281	HP:0000506	Telecanthus
ORPHA:286	COL5A1	1289	HP:0100543	Cognitive impairment
ORPHA:286	COL5A1	1289	HP:0001263	Global developmental delay
ORPHA:286	COL5A1	1289	HP:0012368	Flat face
ORPHA:286	COL5A1	1289	HP:0000286	Epicanthus
ORPHA:286	COL5A1	1289	HP:0001634	Mitral valve prolapse
ORPHA:286	COL5A1	1289	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:286	COL5A1	1289	HP:0000978	Bruising susceptibility
ORPHA:286	COL5A1	1289	HP:0005294	Arterial dissection
ORPHA:286	COL5A1	1289	HP:0000190	Abnormality of oral frenula
ORPHA:286	COL5A1	1289	HP:0012733	Macule
ORPHA:286	COL5A1	1289	HP:0000316	Hypertelorism
ORPHA:286	COL5A1	1289	HP:0010648	Dermal translucency
ORPHA:286	COL5A1	1289	HP:0100585	Telangiectasia of the skin
ORPHA:286	COL5A1	1289	HP:0005244	Gastrointestinal infarctions
ORPHA:286	COL5A1	1289	HP:0011029	Internal hemorrhage
ORPHA:286	COL5A1	1289	HP:0000499	Abnormality of the eyelashes
ORPHA:286	COL5A1	1289	HP:0000670	Carious teeth
ORPHA:286	COL5A1	1289	HP:0000767	Pectus excavatum
ORPHA:286	COL5A1	1289	HP:0000028	Cryptorchidism
ORPHA:286	COL5A1	1289	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
ORPHA:286	COL5A1	1289	HP:0100784	Peripheral arteriovenous fistula
ORPHA:286	COL5A1	1289	HP:0000995	Melanocytic nevus
ORPHA:286	COL5A1	1289	HP:0000233	Thin vermilion border
ORPHA:286	COL5A1	1289	HP:0001622	Premature birth
ORPHA:286	COL5A1	1289	HP:0000520	Proptosis
ORPHA:286	COL5A1	1289	HP:0000912	Sprengel anomaly
ORPHA:286	COL5A1	1289	HP:0000501	Glaucoma
ORPHA:286	COL5A1	1289	HP:0002107	Pneumothorax
ORPHA:286	COL5A1	1289	HP:0002619	Varicose veins
ORPHA:286	COL5A1	1289	HP:0000015	Bladder diverticulum
ORPHA:286	COL5A1	1289	HP:0001762	Talipes equinovarus
ORPHA:286	COL5A1	1289	HP:0000963	Thin skin
ORPHA:286	COL5A1	1289	HP:0002093	Respiratory insufficiency
ORPHA:286	COL5A1	1289	HP:0002900	Hypokalemia
ORPHA:286	COL5A1	1289	HP:0000411	Protruding ear
ORPHA:286	COL5A1	1289	HP:0002647	Aortic dissection
ORPHA:286	COL5A1	1289	HP:0004322	Short stature
ORPHA:286	COL5A1	1289	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:286	COL5A1	1289	HP:0000506	Telecanthus
ORPHA:800	HSPG2	3339	HP:0003044	Shoulder flexion contracture
ORPHA:800	HSPG2	3339	HP:0002673	Coxa valga
ORPHA:800	HSPG2	3339	HP:0003198	Myopathy
ORPHA:800	HSPG2	3339	HP:0000205	Pursed lips
ORPHA:800	HSPG2	3339	HP:0002486	Myotonia
ORPHA:800	HSPG2	3339	HP:0000232	Everted lower lip vermilion
ORPHA:800	HSPG2	3339	HP:0003307	Hyperlordosis
ORPHA:800	HSPG2	3339	HP:0002983	Micromelia
ORPHA:800	HSPG2	3339	HP:0003306	Spinal rigidity
ORPHA:800	HSPG2	3339	HP:0002812	Coxa vara
ORPHA:800	HSPG2	3339	HP:0002857	Genu valgum
ORPHA:800	HSPG2	3339	HP:0002650	Scoliosis
ORPHA:800	HSPG2	3339	HP:0000545	Myopia
ORPHA:800	HSPG2	3339	HP:0001288	Gait disturbance
ORPHA:800	HSPG2	3339	HP:0003457	EMG abnormality
ORPHA:800	HSPG2	3339	HP:0003273	Hip contracture
ORPHA:800	HSPG2	3339	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:800	HSPG2	3339	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:800	HSPG2	3339	HP:0002652	Skeletal dysplasia
ORPHA:800	HSPG2	3339	HP:0000298	Mask-like facies
ORPHA:800	HSPG2	3339	HP:0000926	Platyspondyly
ORPHA:800	HSPG2	3339	HP:0000470	Short neck
ORPHA:800	HSPG2	3339	HP:0000486	Strabismus
ORPHA:800	HSPG2	3339	HP:0000347	Micrognathia
ORPHA:800	HSPG2	3339	HP:0005830	Flexion contracture of toe
ORPHA:800	HSPG2	3339	HP:0012544	Elevated aldolase level
ORPHA:800	HSPG2	3339	HP:0000600	Abnormality of the pharynx
ORPHA:800	HSPG2	3339	HP:0000581	Blepharophimosis
ORPHA:800	HSPG2	3339	HP:0002808	Kyphosis
ORPHA:800	HSPG2	3339	HP:0000518	Cataract
ORPHA:800	HSPG2	3339	HP:0001265	Hyporeflexia
ORPHA:800	HSPG2	3339	HP:0001249	Intellectual disability
ORPHA:800	HSPG2	3339	HP:0000160	Narrow mouth
ORPHA:800	HSPG2	3339	HP:0001763	Pes planus
ORPHA:800	HSPG2	3339	HP:0003712	Skeletal muscle hypertrophy
ORPHA:800	HSPG2	3339	HP:0000534	Abnormality of the eyebrow
ORPHA:800	HSPG2	3339	HP:0001387	Joint stiffness
ORPHA:800	HSPG2	3339	HP:0000426	Prominent nasal bridge
ORPHA:800	HSPG2	3339	HP:0000768	Pectus carinatum
ORPHA:800	HSPG2	3339	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:800	HSPG2	3339	HP:0000293	Full cheeks
ORPHA:800	HSPG2	3339	HP:0001276	Hypertonia
ORPHA:800	HSPG2	3339	HP:0001385	Hip dysplasia
ORPHA:800	HSPG2	3339	HP:0001621	Weak voice
ORPHA:800	HSPG2	3339	HP:0005930	Abnormality of epiphysis morphology
ORPHA:800	HSPG2	3339	HP:0001239	Wrist flexion contracture
ORPHA:800	HSPG2	3339	HP:0000211	Trismus
ORPHA:800	HSPG2	3339	HP:0000508	Ptosis
ORPHA:800	HSPG2	3339	HP:0001620	High pitched voice
ORPHA:800	HSPG2	3339	HP:0000396	Overfolded helix
ORPHA:800	HSPG2	3339	HP:0000944	Abnormality of the metaphysis
ORPHA:800	HSPG2	3339	HP:0004322	Short stature
ORPHA:800	HSPG2	3339	HP:0012368	Flat face
ORPHA:800	HSPG2	3339	HP:0000939	Osteoporosis
ORPHA:800	HSPG2	3339	HP:0000505	Visual impairment
ORPHA:800	HSPG2	3339	HP:0100569	Abnormal vertebral ossification
ORPHA:800	HSPG2	3339	HP:0010508	Metatarsus valgus
ORPHA:800	HSPG2	3339	HP:0000218	High palate
OMIM:615617	CD3D	915	HP:0002721	Immunodeficiency
OMIM:615617	CD3D	915	HP:0000007	Autosomal recessive inheritance
OMIM:615617	CD3D	915	HP:0002205	Recurrent respiratory infections
OMIM:615617	CD3D	915	HP:0001508	Failure to thrive
OMIM:615617	CD3D	915	HP:0003593	Infantile onset
OMIM:615617	CD3D	915	HP:0000403	Recurrent otitis media
OMIM:615617	CD3D	915	HP:0002014	Diarrhea
OMIM:615617	CD3D	915	HP:0001888	Lymphopenia
OMIM:601216	LTBP3	4054	HP:0000998	Hypertrichosis
OMIM:601216	LTBP3	4054	HP:0000677	Oligodontia
OMIM:601216	LTBP3	4054	HP:0000691	Microdontia
OMIM:601216	LTBP3	4054	HP:0004322	Short stature
OMIM:601216	LTBP3	4054	HP:0000705	Amelogenesis imperfecta
OMIM:601216	LTBP3	4054	HP:0002750	Delayed skeletal maturation
OMIM:601216	LTBP3	4054	HP:0000687	Widely spaced teeth
OMIM:601216	LTBP3	4054	HP:0002945	Intervertebral space narrowing
OMIM:601216	LTBP3	4054	HP:0008441	Herniation of intervertebral nuclei
OMIM:601216	LTBP3	4054	HP:0000007	Autosomal recessive inheritance
OMIM:601216	LTBP3	4054	HP:0001634	Mitral valve prolapse
OMIM:601216	LTBP3	4054	HP:0008450	Narrow vertebral interpedicular distance
OMIM:601216	LTBP3	4054	HP:0000926	Platyspondyly
OMIM:616307	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:616307	WDR19	57728	HP:0001407	Hepatic cysts
OMIM:616307	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:616307	WDR19	57728	HP:0000505	Visual impairment
OMIM:616307	WDR19	57728	HP:0007663	Reduced visual acuity
OMIM:616307	WDR19	57728	HP:0001737	Pancreatic cysts
OMIM:300436	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300436	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:614940	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:614940	EDARADD	128178	HP:0008070	Sparse hair
OMIM:614940	EDARADD	128178	HP:0000668	Hypodontia
OMIM:614940	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:614940	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:614940	EDARADD	128178	HP:0007607	Hypohidrotic ectodermal dysplasia
OMIM:614940	EDARADD	128178	HP:0000290	Abnormality of the forehead
OMIM:614940	EDARADD	128178	HP:0000958	Dry skin
OMIM:611777	GPD1L	23171	HP:0011705	First degree atrioventricular block
OMIM:611777	GPD1L	23171	HP:0001663	Ventricular fibrillation
OMIM:611777	GPD1L	23171	HP:0001279	Syncope
OMIM:611777	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:611777	GPD1L	23171	HP:0011712	Right bundle branch block
ORPHA:97231	PLG	5340	HP:0002837	Recurrent bronchitis
ORPHA:97231	PLG	5340	HP:0009926	Increased lacrimation
ORPHA:97231	PLG	5340	HP:0004386	Gastrointestinal inflammation
ORPHA:97231	PLG	5340	HP:0000704	Periodontitis
ORPHA:97231	PLG	5340	HP:0001058	Poor wound healing
ORPHA:97231	PLG	5340	HP:0001600	Abnormality of the larynx
ORPHA:97231	PLG	5340	HP:0006480	Premature loss of teeth
ORPHA:97231	PLG	5340	HP:0000230	Gingivitis
ORPHA:97231	PLG	5340	HP:0007717	Chronic irritative conjunctivitis
ORPHA:97231	PLG	5340	HP:0001096	Keratoconjunctivitis
ORPHA:97231	PLG	5340	HP:0006532	Recurrent pneumonia
ORPHA:97231	PLG	5340	HP:0100776	Recurrent pharyngitis
ORPHA:97231	PLG	5340	HP:0000212	Gingival overgrowth
ORPHA:97231	PLG	5340	HP:0000403	Recurrent otitis media
ORPHA:97231	PLG	5340	HP:0001321	Cerebellar hypoplasia
ORPHA:97231	PLG	5340	HP:0000256	Macrocephaly
ORPHA:97231	PLG	5340	HP:0010280	Stomatitis
ORPHA:97231	PLG	5340	HP:0001263	Global developmental delay
OMIM:610357	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:610357	KIF1A	547	HP:0001347	Hyperreflexia
OMIM:610357	KIF1A	547	HP:0011448	Ankle clonus
OMIM:610357	KIF1A	547	HP:0001258	Spastic paraplegia
OMIM:610357	KIF1A	547	HP:0003477	Peripheral axonal neuropathy
OMIM:610357	KIF1A	547	HP:0001310	Dysmetria
OMIM:610357	KIF1A	547	HP:0003487	Babinski sign
OMIM:610357	KIF1A	547	HP:0001272	Cerebellar atrophy
OMIM:610357	KIF1A	547	HP:0007340	Lower limb muscle weakness
OMIM:610357	KIF1A	547	HP:0003677	Slow progression
OMIM:610357	KIF1A	547	HP:0002061	Lower limb spasticity
OMIM:610357	KIF1A	547	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:610357	KIF1A	547	HP:0007210	Lower limb amyotrophy
OMIM:610357	KIF1A	547	HP:0002064	Spastic gait
OMIM:610153	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:617268	HECW2	57520	HP:0005280	Depressed nasal bridge
OMIM:617268	HECW2	57520	HP:0001250	Seizures
OMIM:617268	HECW2	57520	HP:0002059	Cerebral atrophy
OMIM:617268	HECW2	57520	HP:0000639	Nystagmus
OMIM:617268	HECW2	57520	HP:0002353	EEG abnormality
OMIM:617268	HECW2	57520	HP:0001999	Abnormal facial shape
OMIM:617268	HECW2	57520	HP:0000154	Wide mouth
OMIM:617268	HECW2	57520	HP:0000506	Telecanthus
OMIM:617268	HECW2	57520	HP:0045075	Sparse eyebrow
OMIM:617268	HECW2	57520	HP:0100023	Recurrent hand flapping
OMIM:617268	HECW2	57520	HP:0040288	Nasogastric tube feeding
OMIM:617268	HECW2	57520	HP:0000414	Bulbous nose
OMIM:617268	HECW2	57520	HP:0000286	Epicanthus
OMIM:617268	HECW2	57520	HP:0000179	Thick lower lip vermilion
OMIM:617268	HECW2	57520	HP:0000574	Thick eyebrow
OMIM:617268	HECW2	57520	HP:0100716	Self-injurious behavior
OMIM:617268	HECW2	57520	HP:0011800	Midface retrusion
OMIM:617268	HECW2	57520	HP:0000006	Autosomal dominant inheritance
OMIM:617268	HECW2	57520	HP:0000400	Macrotia
OMIM:617268	HECW2	57520	HP:0001249	Intellectual disability
OMIM:604219	CRYAA	1409	HP:0000486	Strabismus
OMIM:604219	CRYAA	1409	HP:0000501	Glaucoma
OMIM:604219	CRYAA	1409	HP:0000639	Nystagmus
OMIM:604219	CRYAA	1409	HP:0000518	Cataract
OMIM:604219	CRYAA	1409	HP:0000646	Amblyopia
OMIM:604219	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:604219	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYAA	1409	HP:0000505	Visual impairment
OMIM:118220	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:118220	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:118220	PMP22	5376	HP:0003376	Steppage gait
OMIM:118220	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:118220	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:118220	PMP22	5376	HP:0001284	Areflexia
OMIM:118220	PMP22	5376	HP:0001425	Heterogeneous
OMIM:118220	PMP22	5376	HP:0004336	Myelin outfoldings
OMIM:118220	PMP22	5376	HP:0003828	Variable expressivity
OMIM:118220	PMP22	5376	HP:0000365	Hearing impairment
OMIM:118220	PMP22	5376	HP:0003677	Slow progression
OMIM:118220	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:118220	PMP22	5376	HP:0001171	Split hand
OMIM:118220	PMP22	5376	HP:0001761	Pes cavus
OMIM:118220	PMP22	5376	HP:0001178	Ulnar claw
OMIM:118220	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:118220	PMP22	5376	HP:0003587	Insidious onset
OMIM:118220	PMP22	5376	HP:0003382	Hypertrophic nerve changes
OMIM:118220	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:118220	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118220	PMP22	5376	HP:0003621	Juvenile onset
OMIM:118220	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:118220	PMP22	5376	HP:0001765	Hammertoe
OMIM:118220	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:118220	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118220	PMP22	5376	HP:0003449	Cold-induced muscle cramps
OMIM:203100	TYR	7299	HP:0000505	Visual impairment
OMIM:203100	TYR	7299	HP:0011364	White hair
OMIM:203100	TYR	7299	HP:0000483	Astigmatism
OMIM:203100	TYR	7299	HP:0000486	Strabismus
OMIM:203100	TYR	7299	HP:0001022	Albinism
OMIM:203100	TYR	7299	HP:0001107	Ocular albinism
OMIM:203100	TYR	7299	HP:0200098	Absent skin pigmentation
OMIM:203100	TYR	7299	HP:0003577	Congenital onset
OMIM:203100	TYR	7299	HP:0000613	Photophobia
OMIM:203100	TYR	7299	HP:0000639	Nystagmus
OMIM:203100	TYR	7299	HP:0000635	Blue irides
OMIM:203100	TYR	7299	HP:0000007	Autosomal recessive inheritance
OMIM:203100	TYR	7299	HP:0007750	Hypoplasia of the fovea
OMIM:203100	TYR	7299	HP:0007663	Reduced visual acuity
OMIM:203100	TYR	7299	HP:0000545	Myopia
ORPHA:85163	FAM126A	84668	HP:0002342	Intellectual disability, moderate
ORPHA:85163	FAM126A	84668	HP:0007256	Abnormal pyramidal signs
ORPHA:85163	FAM126A	84668	HP:0006808	Cerebral hypomyelination
ORPHA:85163	FAM126A	84668	HP:0001263	Global developmental delay
ORPHA:85163	FAM126A	84668	HP:0001317	Abnormality of the cerebellum
ORPHA:85163	FAM126A	84668	HP:0000519	Congenital cataract
OMIM:105120	GSN	2934	HP:0003216	Generalized amyloid deposition
OMIM:105120	GSN	2934	HP:0001638	Cardiomyopathy
OMIM:105120	GSN	2934	HP:0000100	Nephrotic syndrome
OMIM:105120	GSN	2934	HP:0001283	Bulbar palsy
OMIM:105120	GSN	2934	HP:0000006	Autosomal dominant inheritance
OMIM:105120	GSN	2934	HP:0000083	Renal insufficiency
OMIM:105120	GSN	2934	HP:0000973	Cutis laxa
OMIM:105120	GSN	2934	HP:0001149	Lattice corneal dystrophy
OMIM:105120	GSN	2934	HP:0001271	Polyneuropathy
OMIM:105120	GSN	2934	HP:0001438	Abnormality of abdomen morphology
OMIM:105120	GSN	2934	HP:0003581	Adult onset
OMIM:105120	GSN	2934	HP:0030843	Cardiac amyloidosis
OMIM:601777	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:601777	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:601777	GUCY2D	3000	HP:0007994	Peripheral visual field loss
OMIM:601777	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	GUCY2D	3000	HP:0011463	Childhood onset
OMIM:105250	OSMR	9180	HP:0011034	Amyloidosis
OMIM:105250	OSMR	9180	HP:0000006	Autosomal dominant inheritance
OMIM:105250	OSMR	9180	HP:0000973	Cutis laxa
OMIM:105250	OSMR	9180	HP:0001149	Lattice corneal dystrophy
OMIM:105250	OSMR	9180	HP:0001291	Abnormality of the cranial nerves
OMIM:105250	OSMR	9180	HP:0000989	Pruritus
OMIM:105250	OSMR	9180	HP:0003581	Adult onset
OMIM:613791	MASP2	10747	HP:0000006	Autosomal dominant inheritance
OMIM:613791	MASP2	10747	HP:0000007	Autosomal recessive inheritance
OMIM:617450	PPM1D	8493	HP:0003307	Hyperlordosis
OMIM:617450	PPM1D	8493	HP:0000750	Delayed speech and language development
OMIM:617450	PPM1D	8493	HP:0000337	Broad forehead
OMIM:617450	PPM1D	8493	HP:0000463	Anteverted nares
OMIM:617450	PPM1D	8493	HP:0001263	Global developmental delay
OMIM:617450	PPM1D	8493	HP:0000219	Thin upper lip vermilion
OMIM:617450	PPM1D	8493	HP:0000729	Autistic behavior
OMIM:617450	PPM1D	8493	HP:0004322	Short stature
OMIM:617450	PPM1D	8493	HP:0007018	Attention deficit hyperactivity disorder
OMIM:617450	PPM1D	8493	HP:0000739	Anxiety
OMIM:617450	PPM1D	8493	HP:0001290	Generalized hypotonia
OMIM:617450	PPM1D	8493	HP:0000154	Wide mouth
OMIM:617450	PPM1D	8493	HP:0000486	Strabismus
OMIM:617450	PPM1D	8493	HP:0001249	Intellectual disability
OMIM:617450	PPM1D	8493	HP:0000006	Autosomal dominant inheritance
OMIM:617450	PPM1D	8493	HP:0001792	Small nail
OMIM:617450	PPM1D	8493	HP:0011968	Feeding difficulties
OMIM:617450	PPM1D	8493	HP:0000540	Hypermetropia
OMIM:617450	PPM1D	8493	HP:0001773	Short foot
OMIM:617450	PPM1D	8493	HP:0002013	Vomiting
OMIM:617450	PPM1D	8493	HP:0200055	Small hand
OMIM:617450	PPM1D	8493	HP:0000358	Posteriorly rotated ears
OMIM:617450	PPM1D	8493	HP:0000369	Low-set ears
OMIM:617450	PPM1D	8493	HP:0000722	Obsessive-compulsive behavior
OMIM:617450	PPM1D	8493	HP:0001156	Brachydactyly
OMIM:617450	PPM1D	8493	HP:0002020	Gastroesophageal reflux
OMIM:617450	PPM1D	8493	HP:0002136	Broad-based gait
OMIM:617450	PPM1D	8493	HP:0002019	Constipation
ORPHA:718	SOX9	6662	HP:0000347	Micrognathia
ORPHA:718	SOX9	6662	HP:0000600	Abnormality of the pharynx
ORPHA:718	SOX9	6662	HP:0002643	Neonatal respiratory distress
ORPHA:718	SOX9	6662	HP:0000175	Cleft palate
ORPHA:718	SOX9	6662	HP:0002781	Upper airway obstruction
ORPHA:718	SOX9	6662	HP:0000162	Glossoptosis
OMIM:615402	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:608688	ATIC	471	HP:0000154	Wide mouth
OMIM:608688	ATIC	471	HP:0000648	Optic atrophy
OMIM:608688	ATIC	471	HP:0011220	Prominent forehead
OMIM:608688	ATIC	471	HP:0000951	Abnormality of the skin
OMIM:608688	ATIC	471	HP:0000369	Low-set ears
OMIM:608688	ATIC	471	HP:0002187	Intellectual disability, profound
OMIM:608688	ATIC	471	HP:0001290	Generalized hypotonia
OMIM:608688	ATIC	471	HP:0000007	Autosomal recessive inheritance
OMIM:608688	ATIC	471	HP:0000426	Prominent nasal bridge
OMIM:608688	ATIC	471	HP:0000063	Fused labia minora
OMIM:608688	ATIC	471	HP:0000219	Thin upper lip vermilion
OMIM:608688	ATIC	471	HP:0000248	Brachycephaly
OMIM:608688	ATIC	471	HP:0000463	Anteverted nares
OMIM:608688	ATIC	471	HP:0001631	Atrial septal defect
OMIM:608688	ATIC	471	HP:0001250	Seizures
OMIM:608688	ATIC	471	HP:0002007	Frontal bossing
OMIM:608688	ATIC	471	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608688	ATIC	471	HP:0008665	Clitoral hypertrophy
OMIM:608688	ATIC	471	HP:0007875	Congenital blindness
OMIM:114000	COL1A1	1277	HP:0001945	Fever
OMIM:114000	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:114000	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:114000	COL1A1	1277	HP:0005731	Cortical irregularity
OMIM:114000	COL1A1	1277	HP:0006465	Periosteal thickening of long tubular bones
OMIM:114000	COL1A1	1277	HP:0004490	Calvarial hyperostosis
OMIM:609814	CFH	3075	HP:0000790	Hematuria
OMIM:609814	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:609814	CFH	3075	HP:0004722	Thickening of the glomerular basement membrane
OMIM:609814	CFH	3075	HP:0003812	Phenotypic variability
OMIM:609814	CFH	3075	HP:0005369	Decreased serum complement factor H
OMIM:609814	CFH	3075	HP:0005389	Depletion of components of the alternative complement pathway
OMIM:609814	CFH	3075	HP:0004746	Glomerular subendothelial electron-dense deposits
OMIM:609814	CFH	3075	HP:0012622	Chronic kidney disease
OMIM:609814	CFH	3075	HP:0003621	Juvenile onset
OMIM:609814	CFH	3075	HP:0002718	Recurrent bacterial infections
OMIM:609814	CFH	3075	HP:0000007	Autosomal recessive inheritance
OMIM:614492	WNK1	65125	HP:0000006	Autosomal dominant inheritance
OMIM:614492	WNK1	65125	HP:0002153	Hyperkalemia
OMIM:614492	WNK1	65125	HP:0000822	Hypertension
OMIM:614492	WNK1	65125	HP:0008242	Pseudohypoaldosteronism
OMIM:614492	WNK1	65125	HP:0001942	Metabolic acidosis
OMIM:614492	WNK1	65125	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:614492	WNK1	65125	HP:0011423	Hyperchloremia
OMIM:617234	PADI6	353238	HP:0000007	Autosomal recessive inheritance
OMIM:617280	MYL4	4635	HP:0001962	Palpitations
OMIM:617280	MYL4	4635	HP:0000006	Autosomal dominant inheritance
OMIM:612529	MMP20	9313	HP:0000705	Amelogenesis imperfecta
OMIM:612529	MMP20	9313	HP:0000007	Autosomal recessive inheritance
OMIM:169150	PRPH2	5961	HP:0007754	Macular dystrophy
OMIM:169150	PRPH2	5961	HP:0007913	Reticular retinal dystrophy
OMIM:169150	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:610283	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610283	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610283	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:610283	SEMA4A	64218	HP:0000613	Photophobia
OMIM:610283	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610283	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:610283	SEMA4A	64218	HP:0009926	Increased lacrimation
OMIM:610283	SEMA4A	64218	HP:0000529	Progressive visual loss
OMIM:206920	SMOC1	64093	HP:0000204	Cleft upper lip
OMIM:206920	SMOC1	64093	HP:0012745	Short palpebral fissure
OMIM:206920	SMOC1	64093	HP:0002982	Tibial bowing
OMIM:206920	SMOC1	64093	HP:0003038	Fibular hypoplasia
OMIM:206920	SMOC1	64093	HP:0003196	Short nose
OMIM:206920	SMOC1	64093	HP:0001162	Postaxial hand polydactyly
OMIM:206920	SMOC1	64093	HP:0000954	Single transverse palmar crease
OMIM:206920	SMOC1	64093	HP:0005867	Fused fourth and fifth metacarpals
OMIM:206920	SMOC1	64093	HP:0000528	Anophthalmia
OMIM:206920	SMOC1	64093	HP:0000007	Autosomal recessive inheritance
OMIM:206920	SMOC1	64093	HP:0000278	Retrognathia
OMIM:206920	SMOC1	64093	HP:0001249	Intellectual disability
OMIM:206920	SMOC1	64093	HP:0005280	Depressed nasal bridge
OMIM:206920	SMOC1	64093	HP:0001852	Sandal gap
OMIM:206920	SMOC1	64093	HP:0000175	Cleft palate
OMIM:206920	SMOC1	64093	HP:0000494	Downslanted palpebral fissures
OMIM:206920	SMOC1	64093	HP:0001626	Abnormality of the cardiovascular system
OMIM:206920	SMOC1	64093	HP:0000568	Microphthalmia
OMIM:206920	SMOC1	64093	HP:0002002	Deep philtrum
OMIM:206920	SMOC1	64093	HP:0000581	Blepharophimosis
OMIM:206920	SMOC1	64093	HP:0001215	Camptodactyly of 2nd-5th fingers
OMIM:206920	SMOC1	64093	HP:0001770	Toe syndactyly
OMIM:206920	SMOC1	64093	HP:0001595	Abnormality of the hair
OMIM:206920	SMOC1	64093	HP:0001830	Postaxial foot polydactyly
OMIM:206920	SMOC1	64093	HP:0008897	Postnatal growth retardation
OMIM:206920	SMOC1	64093	HP:0000218	High palate
OMIM:206920	SMOC1	64093	HP:0002007	Frontal bossing
OMIM:206920	SMOC1	64093	HP:0002827	Hip dislocation
OMIM:206920	SMOC1	64093	HP:0001180	Hand oligodactyly
OMIM:206920	SMOC1	64093	HP:0000454	Flared nostrils
OMIM:206920	SMOC1	64093	HP:0001762	Talipes equinovarus
OMIM:206920	SMOC1	64093	HP:0011220	Prominent forehead
OMIM:206920	SMOC1	64093	HP:0001849	Foot oligodactyly
OMIM:206920	SMOC1	64093	HP:0000358	Posteriorly rotated ears
OMIM:206920	SMOC1	64093	HP:0000369	Low-set ears
ORPHA:93930	TP63	8626	HP:0004378	Abnormality of the anus
ORPHA:93930	TP63	8626	HP:0000010	Recurrent urinary tract infections
ORPHA:93930	TP63	8626	HP:0000023	Inguinal hernia
ORPHA:93930	TP63	8626	HP:0000039	Epispadias
ORPHA:93930	TP63	8626	HP:0000056	Abnormality of the clitoris
ORPHA:93930	TP63	8626	HP:0000076	Vesicoureteral reflux
ORPHA:93930	TP63	8626	HP:0001537	Umbilical hernia
ORPHA:93930	TP63	8626	HP:0002836	Bladder exstrophy
ORPHA:93930	TP63	8626	HP:0008736	Hypoplasia of penis
ORPHA:93930	ISL1	3670	HP:0004378	Abnormality of the anus
ORPHA:93930	ISL1	3670	HP:0000010	Recurrent urinary tract infections
ORPHA:93930	ISL1	3670	HP:0000023	Inguinal hernia
ORPHA:93930	ISL1	3670	HP:0000039	Epispadias
ORPHA:93930	ISL1	3670	HP:0000056	Abnormality of the clitoris
ORPHA:93930	ISL1	3670	HP:0000076	Vesicoureteral reflux
ORPHA:93930	ISL1	3670	HP:0001537	Umbilical hernia
ORPHA:93930	ISL1	3670	HP:0002836	Bladder exstrophy
ORPHA:93930	ISL1	3670	HP:0008736	Hypoplasia of penis
OMIM:617115	SERPINB8	5271	HP:0000962	Hyperkeratosis
OMIM:617115	SERPINB8	5271	HP:0025092	Epidermal acanthosis
OMIM:617115	SERPINB8	5271	HP:0000007	Autosomal recessive inheritance
OMIM:617319	CPAMD8	27151	HP:0001083	Ectopia lentis
OMIM:617319	CPAMD8	27151	HP:0000007	Autosomal recessive inheritance
OMIM:617319	CPAMD8	27151	HP:0100693	Iridodonesis
OMIM:617319	CPAMD8	27151	HP:0000518	Cataract
OMIM:617319	CPAMD8	27151	HP:0012805	Iris transillumination defect
OMIM:617319	CPAMD8	27151	HP:0007676	Hypoplasia of the iris
OMIM:617319	CPAMD8	27151	HP:0009918	Ectopia pupillae
OMIM:617319	CPAMD8	27151	HP:0025358	Uveal ectropion
ORPHA:85335	AP1S2	8905	HP:0000218	High palate
ORPHA:85335	AP1S2	8905	HP:0000718	Aggressive behavior
ORPHA:85335	AP1S2	8905	HP:0001264	Spastic diplegia
ORPHA:85335	AP1S2	8905	HP:0002465	Poor speech
ORPHA:85335	AP1S2	8905	HP:0002650	Scoliosis
ORPHA:85335	AP1S2	8905	HP:0000400	Macrotia
ORPHA:85335	AP1S2	8905	HP:0000322	Short philtrum
ORPHA:85335	AP1S2	8905	HP:0001252	Muscular hypotonia
ORPHA:85335	AP1S2	8905	HP:0000238	Hydrocephalus
ORPHA:85335	AP1S2	8905	HP:0000276	Long face
ORPHA:85335	AP1S2	8905	HP:0001263	Global developmental delay
ORPHA:85335	AP1S2	8905	HP:0002342	Intellectual disability, moderate
ORPHA:85335	AP1S2	8905	HP:0001288	Gait disturbance
ORPHA:85335	AP1S2	8905	HP:0002514	Cerebral calcification
ORPHA:85335	AP1S2	8905	HP:0000729	Autistic behavior
ORPHA:85335	AP1S2	8905	HP:0000280	Coarse facial features
OMIM:608569	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
ORPHA:910	XPA	7507	HP:0000524	Conjunctival telangiectasia
ORPHA:910	XPA	7507	HP:0001034	Hypermelanotic macule
ORPHA:910	XPA	7507	HP:0000164	Abnormality of the dentition
ORPHA:910	XPA	7507	HP:0100543	Cognitive impairment
ORPHA:910	XPA	7507	HP:0012378	Fatigue
ORPHA:910	XPA	7507	HP:0000518	Cataract
ORPHA:910	XPA	7507	HP:0000992	Cutaneous photosensitivity
ORPHA:910	XPA	7507	HP:0001508	Failure to thrive
ORPHA:910	XPA	7507	HP:0000648	Optic atrophy
ORPHA:910	XPA	7507	HP:0000962	Hyperkeratosis
ORPHA:910	XPA	7507	HP:0100585	Telangiectasia of the skin
ORPHA:910	XPA	7507	HP:0001029	Poikiloderma
ORPHA:910	XPA	7507	HP:0000407	Sensorineural hearing impairment
ORPHA:910	XPA	7507	HP:0010783	Erythema
ORPHA:910	XPA	7507	HP:0000958	Dry skin
ORPHA:910	XPA	7507	HP:0002353	EEG abnormality
ORPHA:910	XPA	7507	HP:0002861	Melanoma
ORPHA:910	XPA	7507	HP:0006887	Intellectual disability, progressive
ORPHA:910	XPA	7507	HP:0000135	Hypogonadism
ORPHA:910	XPA	7507	HP:0001053	Hypopigmented skin patches
ORPHA:910	XPA	7507	HP:0012740	Papilloma
ORPHA:910	XPA	7507	HP:0000963	Thin skin
ORPHA:910	XPA	7507	HP:0001945	Fever
ORPHA:910	XPA	7507	HP:0001480	Freckling
ORPHA:910	XPA	7507	HP:0002829	Arthralgia
ORPHA:910	XPA	7507	HP:0000491	Keratitis
ORPHA:910	XPA	7507	HP:0004334	Dermal atrophy
ORPHA:910	XPA	7507	HP:0000486	Strabismus
ORPHA:910	XPA	7507	HP:0002376	Developmental regression
ORPHA:910	XPA	7507	HP:0000028	Cryptorchidism
ORPHA:910	XPC	7508	HP:0000524	Conjunctival telangiectasia
ORPHA:910	XPC	7508	HP:0001034	Hypermelanotic macule
ORPHA:910	XPC	7508	HP:0000164	Abnormality of the dentition
ORPHA:910	XPC	7508	HP:0100543	Cognitive impairment
ORPHA:910	XPC	7508	HP:0012378	Fatigue
ORPHA:910	XPC	7508	HP:0000518	Cataract
ORPHA:910	XPC	7508	HP:0000992	Cutaneous photosensitivity
ORPHA:910	XPC	7508	HP:0001508	Failure to thrive
ORPHA:910	XPC	7508	HP:0000648	Optic atrophy
ORPHA:910	XPC	7508	HP:0000962	Hyperkeratosis
ORPHA:910	XPC	7508	HP:0100585	Telangiectasia of the skin
ORPHA:910	XPC	7508	HP:0001029	Poikiloderma
ORPHA:910	XPC	7508	HP:0000407	Sensorineural hearing impairment
ORPHA:910	XPC	7508	HP:0010783	Erythema
ORPHA:910	XPC	7508	HP:0000958	Dry skin
ORPHA:910	XPC	7508	HP:0002353	EEG abnormality
ORPHA:910	XPC	7508	HP:0002861	Melanoma
ORPHA:910	XPC	7508	HP:0006887	Intellectual disability, progressive
ORPHA:910	XPC	7508	HP:0000135	Hypogonadism
ORPHA:910	XPC	7508	HP:0001053	Hypopigmented skin patches
ORPHA:910	XPC	7508	HP:0012740	Papilloma
ORPHA:910	XPC	7508	HP:0000963	Thin skin
ORPHA:910	XPC	7508	HP:0001945	Fever
ORPHA:910	XPC	7508	HP:0001480	Freckling
ORPHA:910	XPC	7508	HP:0002829	Arthralgia
ORPHA:910	XPC	7508	HP:0000491	Keratitis
ORPHA:910	XPC	7508	HP:0004334	Dermal atrophy
ORPHA:910	XPC	7508	HP:0000486	Strabismus
ORPHA:910	XPC	7508	HP:0002376	Developmental regression
ORPHA:910	XPC	7508	HP:0000028	Cryptorchidism
ORPHA:910	ERCC2	2068	HP:0000524	Conjunctival telangiectasia
ORPHA:910	ERCC2	2068	HP:0001034	Hypermelanotic macule
ORPHA:910	ERCC2	2068	HP:0000164	Abnormality of the dentition
ORPHA:910	ERCC2	2068	HP:0100543	Cognitive impairment
ORPHA:910	ERCC2	2068	HP:0012378	Fatigue
ORPHA:910	ERCC2	2068	HP:0000518	Cataract
ORPHA:910	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
ORPHA:910	ERCC2	2068	HP:0001508	Failure to thrive
ORPHA:910	ERCC2	2068	HP:0000648	Optic atrophy
ORPHA:910	ERCC2	2068	HP:0000962	Hyperkeratosis
ORPHA:910	ERCC2	2068	HP:0100585	Telangiectasia of the skin
ORPHA:910	ERCC2	2068	HP:0001029	Poikiloderma
ORPHA:910	ERCC2	2068	HP:0000407	Sensorineural hearing impairment
ORPHA:910	ERCC2	2068	HP:0010783	Erythema
ORPHA:910	ERCC2	2068	HP:0000958	Dry skin
ORPHA:910	ERCC2	2068	HP:0002353	EEG abnormality
ORPHA:910	ERCC2	2068	HP:0002861	Melanoma
ORPHA:910	ERCC2	2068	HP:0006887	Intellectual disability, progressive
ORPHA:910	ERCC2	2068	HP:0000135	Hypogonadism
ORPHA:910	ERCC2	2068	HP:0001053	Hypopigmented skin patches
ORPHA:910	ERCC2	2068	HP:0012740	Papilloma
ORPHA:910	ERCC2	2068	HP:0000963	Thin skin
ORPHA:910	ERCC2	2068	HP:0001945	Fever
ORPHA:910	ERCC2	2068	HP:0001480	Freckling
ORPHA:910	ERCC2	2068	HP:0002829	Arthralgia
ORPHA:910	ERCC2	2068	HP:0000491	Keratitis
ORPHA:910	ERCC2	2068	HP:0004334	Dermal atrophy
ORPHA:910	ERCC2	2068	HP:0000486	Strabismus
ORPHA:910	ERCC2	2068	HP:0002376	Developmental regression
ORPHA:910	ERCC2	2068	HP:0000028	Cryptorchidism
ORPHA:910	ERCC3	2071	HP:0000524	Conjunctival telangiectasia
ORPHA:910	ERCC3	2071	HP:0001034	Hypermelanotic macule
ORPHA:910	ERCC3	2071	HP:0000164	Abnormality of the dentition
ORPHA:910	ERCC3	2071	HP:0100543	Cognitive impairment
ORPHA:910	ERCC3	2071	HP:0012378	Fatigue
ORPHA:910	ERCC3	2071	HP:0000518	Cataract
ORPHA:910	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
ORPHA:910	ERCC3	2071	HP:0001508	Failure to thrive
ORPHA:910	ERCC3	2071	HP:0000648	Optic atrophy
ORPHA:910	ERCC3	2071	HP:0000962	Hyperkeratosis
ORPHA:910	ERCC3	2071	HP:0100585	Telangiectasia of the skin
ORPHA:910	ERCC3	2071	HP:0001029	Poikiloderma
ORPHA:910	ERCC3	2071	HP:0000407	Sensorineural hearing impairment
ORPHA:910	ERCC3	2071	HP:0010783	Erythema
ORPHA:910	ERCC3	2071	HP:0000958	Dry skin
ORPHA:910	ERCC3	2071	HP:0002353	EEG abnormality
ORPHA:910	ERCC3	2071	HP:0002861	Melanoma
ORPHA:910	ERCC3	2071	HP:0006887	Intellectual disability, progressive
ORPHA:910	ERCC3	2071	HP:0000135	Hypogonadism
ORPHA:910	ERCC3	2071	HP:0001053	Hypopigmented skin patches
ORPHA:910	ERCC3	2071	HP:0012740	Papilloma
ORPHA:910	ERCC3	2071	HP:0000963	Thin skin
ORPHA:910	ERCC3	2071	HP:0001945	Fever
ORPHA:910	ERCC3	2071	HP:0001480	Freckling
ORPHA:910	ERCC3	2071	HP:0002829	Arthralgia
ORPHA:910	ERCC3	2071	HP:0000491	Keratitis
ORPHA:910	ERCC3	2071	HP:0004334	Dermal atrophy
ORPHA:910	ERCC3	2071	HP:0000486	Strabismus
ORPHA:910	ERCC3	2071	HP:0002376	Developmental regression
ORPHA:910	ERCC3	2071	HP:0000028	Cryptorchidism
ORPHA:910	ERCC4	2072	HP:0000524	Conjunctival telangiectasia
ORPHA:910	ERCC4	2072	HP:0001034	Hypermelanotic macule
ORPHA:910	ERCC4	2072	HP:0000164	Abnormality of the dentition
ORPHA:910	ERCC4	2072	HP:0100543	Cognitive impairment
ORPHA:910	ERCC4	2072	HP:0012378	Fatigue
ORPHA:910	ERCC4	2072	HP:0000518	Cataract
ORPHA:910	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
ORPHA:910	ERCC4	2072	HP:0001508	Failure to thrive
ORPHA:910	ERCC4	2072	HP:0000648	Optic atrophy
ORPHA:910	ERCC4	2072	HP:0000962	Hyperkeratosis
ORPHA:910	ERCC4	2072	HP:0100585	Telangiectasia of the skin
ORPHA:910	ERCC4	2072	HP:0001029	Poikiloderma
ORPHA:910	ERCC4	2072	HP:0000407	Sensorineural hearing impairment
ORPHA:910	ERCC4	2072	HP:0010783	Erythema
ORPHA:910	ERCC4	2072	HP:0000958	Dry skin
ORPHA:910	ERCC4	2072	HP:0002353	EEG abnormality
ORPHA:910	ERCC4	2072	HP:0002861	Melanoma
ORPHA:910	ERCC4	2072	HP:0006887	Intellectual disability, progressive
ORPHA:910	ERCC4	2072	HP:0000135	Hypogonadism
ORPHA:910	ERCC4	2072	HP:0001053	Hypopigmented skin patches
ORPHA:910	ERCC4	2072	HP:0012740	Papilloma
ORPHA:910	ERCC4	2072	HP:0000963	Thin skin
ORPHA:910	ERCC4	2072	HP:0001945	Fever
ORPHA:910	ERCC4	2072	HP:0001480	Freckling
ORPHA:910	ERCC4	2072	HP:0002829	Arthralgia
ORPHA:910	ERCC4	2072	HP:0000491	Keratitis
ORPHA:910	ERCC4	2072	HP:0004334	Dermal atrophy
ORPHA:910	ERCC4	2072	HP:0000486	Strabismus
ORPHA:910	ERCC4	2072	HP:0002376	Developmental regression
ORPHA:910	ERCC4	2072	HP:0000028	Cryptorchidism
ORPHA:910	ERCC5	2073	HP:0000524	Conjunctival telangiectasia
ORPHA:910	ERCC5	2073	HP:0001034	Hypermelanotic macule
ORPHA:910	ERCC5	2073	HP:0000164	Abnormality of the dentition
ORPHA:910	ERCC5	2073	HP:0100543	Cognitive impairment
ORPHA:910	ERCC5	2073	HP:0012378	Fatigue
ORPHA:910	ERCC5	2073	HP:0000518	Cataract
ORPHA:910	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
ORPHA:910	ERCC5	2073	HP:0001508	Failure to thrive
ORPHA:910	ERCC5	2073	HP:0000648	Optic atrophy
ORPHA:910	ERCC5	2073	HP:0000962	Hyperkeratosis
ORPHA:910	ERCC5	2073	HP:0100585	Telangiectasia of the skin
ORPHA:910	ERCC5	2073	HP:0001029	Poikiloderma
ORPHA:910	ERCC5	2073	HP:0000407	Sensorineural hearing impairment
ORPHA:910	ERCC5	2073	HP:0010783	Erythema
ORPHA:910	ERCC5	2073	HP:0000958	Dry skin
ORPHA:910	ERCC5	2073	HP:0002353	EEG abnormality
ORPHA:910	ERCC5	2073	HP:0002861	Melanoma
ORPHA:910	ERCC5	2073	HP:0006887	Intellectual disability, progressive
ORPHA:910	ERCC5	2073	HP:0000135	Hypogonadism
ORPHA:910	ERCC5	2073	HP:0001053	Hypopigmented skin patches
ORPHA:910	ERCC5	2073	HP:0012740	Papilloma
ORPHA:910	ERCC5	2073	HP:0000963	Thin skin
ORPHA:910	ERCC5	2073	HP:0001945	Fever
ORPHA:910	ERCC5	2073	HP:0001480	Freckling
ORPHA:910	ERCC5	2073	HP:0002829	Arthralgia
ORPHA:910	ERCC5	2073	HP:0000491	Keratitis
ORPHA:910	ERCC5	2073	HP:0004334	Dermal atrophy
ORPHA:910	ERCC5	2073	HP:0000486	Strabismus
ORPHA:910	ERCC5	2073	HP:0002376	Developmental regression
ORPHA:910	ERCC5	2073	HP:0000028	Cryptorchidism
ORPHA:910	DDB2	1643	HP:0000524	Conjunctival telangiectasia
ORPHA:910	DDB2	1643	HP:0001034	Hypermelanotic macule
ORPHA:910	DDB2	1643	HP:0000164	Abnormality of the dentition
ORPHA:910	DDB2	1643	HP:0100543	Cognitive impairment
ORPHA:910	DDB2	1643	HP:0012378	Fatigue
ORPHA:910	DDB2	1643	HP:0000518	Cataract
ORPHA:910	DDB2	1643	HP:0000992	Cutaneous photosensitivity
ORPHA:910	DDB2	1643	HP:0001508	Failure to thrive
ORPHA:910	DDB2	1643	HP:0000648	Optic atrophy
ORPHA:910	DDB2	1643	HP:0000962	Hyperkeratosis
ORPHA:910	DDB2	1643	HP:0100585	Telangiectasia of the skin
ORPHA:910	DDB2	1643	HP:0001029	Poikiloderma
ORPHA:910	DDB2	1643	HP:0000407	Sensorineural hearing impairment
ORPHA:910	DDB2	1643	HP:0010783	Erythema
ORPHA:910	DDB2	1643	HP:0000958	Dry skin
ORPHA:910	DDB2	1643	HP:0002353	EEG abnormality
ORPHA:910	DDB2	1643	HP:0002861	Melanoma
ORPHA:910	DDB2	1643	HP:0006887	Intellectual disability, progressive
ORPHA:910	DDB2	1643	HP:0000135	Hypogonadism
ORPHA:910	DDB2	1643	HP:0001053	Hypopigmented skin patches
ORPHA:910	DDB2	1643	HP:0012740	Papilloma
ORPHA:910	DDB2	1643	HP:0000963	Thin skin
ORPHA:910	DDB2	1643	HP:0001945	Fever
ORPHA:910	DDB2	1643	HP:0001480	Freckling
ORPHA:910	DDB2	1643	HP:0002829	Arthralgia
ORPHA:910	DDB2	1643	HP:0000491	Keratitis
ORPHA:910	DDB2	1643	HP:0004334	Dermal atrophy
ORPHA:910	DDB2	1643	HP:0000486	Strabismus
ORPHA:910	DDB2	1643	HP:0002376	Developmental regression
ORPHA:910	DDB2	1643	HP:0000028	Cryptorchidism
ORPHA:502	EXT1	2131	HP:0000574	Thick eyebrow
ORPHA:502	EXT1	2131	HP:0001249	Intellectual disability
ORPHA:502	EXT1	2131	HP:0000411	Protruding ear
ORPHA:502	EXT1	2131	HP:0002209	Sparse scalp hair
ORPHA:502	EXT1	2131	HP:0005692	Joint hyperflexibility
ORPHA:502	EXT1	2131	HP:0001373	Joint dislocation
ORPHA:502	EXT1	2131	HP:0001582	Redundant skin
ORPHA:502	EXT1	2131	HP:0002653	Bone pain
ORPHA:502	EXT1	2131	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
ORPHA:502	EXT1	2131	HP:0009118	Aplasia/Hypoplasia of the mandible
ORPHA:502	EXT1	2131	HP:0002750	Delayed skeletal maturation
ORPHA:502	EXT1	2131	HP:0000219	Thin upper lip vermilion
ORPHA:502	EXT1	2131	HP:0000343	Long philtrum
ORPHA:502	EXT1	2131	HP:0004322	Short stature
ORPHA:502	EXT1	2131	HP:0000414	Bulbous nose
ORPHA:502	EXT1	2131	HP:0002002	Deep philtrum
ORPHA:502	EXT1	2131	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:502	EXT1	2131	HP:0005039	Multiple long-bone exostoses
ORPHA:502	TRPS1	7227	HP:0000574	Thick eyebrow
ORPHA:502	TRPS1	7227	HP:0001249	Intellectual disability
ORPHA:502	TRPS1	7227	HP:0000411	Protruding ear
ORPHA:502	TRPS1	7227	HP:0002209	Sparse scalp hair
ORPHA:502	TRPS1	7227	HP:0005692	Joint hyperflexibility
ORPHA:502	TRPS1	7227	HP:0001373	Joint dislocation
ORPHA:502	TRPS1	7227	HP:0001582	Redundant skin
ORPHA:502	TRPS1	7227	HP:0002653	Bone pain
ORPHA:502	TRPS1	7227	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
ORPHA:502	TRPS1	7227	HP:0009118	Aplasia/Hypoplasia of the mandible
ORPHA:502	TRPS1	7227	HP:0002750	Delayed skeletal maturation
ORPHA:502	TRPS1	7227	HP:0000219	Thin upper lip vermilion
ORPHA:502	TRPS1	7227	HP:0000343	Long philtrum
ORPHA:502	TRPS1	7227	HP:0004322	Short stature
ORPHA:502	TRPS1	7227	HP:0000414	Bulbous nose
ORPHA:502	TRPS1	7227	HP:0002002	Deep philtrum
ORPHA:502	TRPS1	7227	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:502	TRPS1	7227	HP:0005039	Multiple long-bone exostoses
OMIM:605362	EYA4	2070	HP:0001644	Dilated cardiomyopathy
OMIM:605362	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:605362	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:605362	EYA4	2070	HP:0001635	Congestive heart failure
OMIM:605362	EYA4	2070	HP:0001645	Sudden cardiac death
OMIM:615436	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:615436	PRKG1	5592	HP:0012727	Dilatation of the thoracic aorta
OMIM:616267	PNKP	11284	HP:0001332	Dystonia
OMIM:616267	PNKP	11284	HP:0009830	Peripheral neuropathy
OMIM:616267	PNKP	11284	HP:0000657	Oculomotor apraxia
OMIM:616267	PNKP	11284	HP:0002445	Tetraplegia
OMIM:616267	PNKP	11284	HP:0001284	Areflexia
OMIM:616267	PNKP	11284	HP:0001272	Cerebellar atrophy
OMIM:616267	PNKP	11284	HP:0000007	Autosomal recessive inheritance
OMIM:616267	PNKP	11284	HP:0001251	Ataxia
OMIM:616267	PNKP	11284	HP:0003678	Rapidly progressive
OMIM:616437	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:616437	SQSTM1	8878	HP:0001283	Bulbar palsy
OMIM:616437	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:616437	SQSTM1	8878	HP:0000734	Disinhibition
OMIM:616437	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:616437	SQSTM1	8878	HP:0003676	Progressive
OMIM:616437	SQSTM1	8878	HP:0002463	Language impairment
OMIM:616437	SQSTM1	8878	HP:0002120	Cerebral cortical atrophy
OMIM:616437	SQSTM1	8878	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	SQSTM1	8878	HP:0000751	Personality changes
OMIM:616437	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:616437	SQSTM1	8878	HP:0002145	Frontotemporal dementia
OMIM:616437	SQSTM1	8878	HP:0002300	Mutism
OMIM:616437	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:616437	SQSTM1	8878	HP:0003812	Phenotypic variability
OMIM:616437	SQSTM1	8878	HP:0000741	Apathy
OMIM:616437	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:616437	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:276901	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:276901	USH2A	7399	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615917	VARS2	57176	HP:0003593	Infantile onset
OMIM:615917	VARS2	57176	HP:0000007	Autosomal recessive inheritance
OMIM:615917	VARS2	57176	HP:0001290	Generalized hypotonia
OMIM:615917	VARS2	57176	HP:0000252	Microcephaly
OMIM:616809	PIGY	84992	HP:0001250	Seizures
OMIM:616809	PIGY	84992	HP:0000414	Bulbous nose
OMIM:616809	PIGY	84992	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616809	PIGY	84992	HP:0030084	Clinodactyly
OMIM:616809	PIGY	84992	HP:0001385	Hip dysplasia
OMIM:616809	PIGY	84992	HP:0000341	Narrow forehead
OMIM:616809	PIGY	84992	HP:0000519	Congenital cataract
OMIM:616809	PIGY	84992	HP:0000007	Autosomal recessive inheritance
OMIM:616809	PIGY	84992	HP:0000023	Inguinal hernia
OMIM:616809	PIGY	84992	HP:0003577	Congenital onset
OMIM:616809	PIGY	84992	HP:0000637	Long palpebral fissure
OMIM:616809	PIGY	84992	HP:0003155	Elevated alkaline phosphatase
OMIM:616809	PIGY	84992	HP:0000252	Microcephaly
OMIM:616809	PIGY	84992	HP:0000470	Short neck
OMIM:616809	PIGY	84992	HP:0001561	Polyhydramnios
OMIM:616809	PIGY	84992	HP:0002013	Vomiting
OMIM:616809	PIGY	84992	HP:0004691	2-3 toe syndactyly
OMIM:616809	PIGY	84992	HP:0005274	Prominent nasal tip
OMIM:616809	PIGY	84992	HP:0000750	Delayed speech and language development
OMIM:616809	PIGY	84992	HP:0001263	Global developmental delay
OMIM:616809	PIGY	84992	HP:0000391	Thickened helices
OMIM:616809	PIGY	84992	HP:0000218	High palate
OMIM:616809	PIGY	84992	HP:0000486	Strabismus
OMIM:616809	PIGY	84992	HP:0009826	Limb undergrowth
OMIM:616809	PIGY	84992	HP:0000938	Osteopenia
OMIM:616809	PIGY	84992	HP:0009748	Large earlobe
OMIM:616809	PIGY	84992	HP:0000752	Hyperactivity
OMIM:616809	PIGY	84992	HP:0006118	Shortening of all distal phalanges of the fingers
OMIM:616809	PIGY	84992	HP:0002987	Elbow flexion contracture
OMIM:616809	PIGY	84992	HP:0000154	Wide mouth
OMIM:616809	PIGY	84992	HP:0003273	Hip contracture
OMIM:616809	PIGY	84992	HP:0005280	Depressed nasal bridge
OMIM:616809	PIGY	84992	HP:0011968	Feeding difficulties
OMIM:616809	PIGY	84992	HP:0000463	Anteverted nares
OMIM:616809	PIGY	84992	HP:0008936	Muscular hypotonia of the trunk
OMIM:616809	PIGY	84992	HP:0010943	Echogenic fetal bowel
OMIM:616809	PIGY	84992	HP:0001510	Growth delay
OMIM:616809	PIGY	84992	HP:0002376	Developmental regression
OMIM:616809	PIGY	84992	HP:0006380	Knee flexion contracture
OMIM:616809	PIGY	84992	HP:0000490	Deeply set eye
OMIM:616809	PIGY	84992	HP:0010844	EEG with multifocal slow activity
OMIM:608404	CD36	948	HP:0000818	Abnormality of the endocrine system
OMIM:608404	CD36	948	HP:0001902	Giant platelets
OMIM:608404	CD36	948	HP:0000007	Autosomal recessive inheritance
OMIM:608404	CD36	948	HP:0000006	Autosomal dominant inheritance
OMIM:608404	CD36	948	HP:0001873	Thrombocytopenia
OMIM:608404	CD36	948	HP:0003010	Prolonged bleeding time
ORPHA:399805	ZMYND15	84225	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	ZMYND15	84225	HP:0008734	Decreased testicular size
ORPHA:399805	ZMYND15	84225	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	ZMYND15	84225	HP:0011962	Obstructive azoospermia
ORPHA:399805	SYCE1	93426	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	SYCE1	93426	HP:0008734	Decreased testicular size
ORPHA:399805	SYCE1	93426	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	SYCE1	93426	HP:0011962	Obstructive azoospermia
ORPHA:399805	KLHL10	317719	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	KLHL10	317719	HP:0008734	Decreased testicular size
ORPHA:399805	KLHL10	317719	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	KLHL10	317719	HP:0011962	Obstructive azoospermia
ORPHA:399805	NR5A1	2516	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	NR5A1	2516	HP:0008734	Decreased testicular size
ORPHA:399805	NR5A1	2516	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	NR5A1	2516	HP:0011962	Obstructive azoospermia
ORPHA:399805	CFTR	1080	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	CFTR	1080	HP:0008734	Decreased testicular size
ORPHA:399805	CFTR	1080	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	CFTR	1080	HP:0011962	Obstructive azoospermia
ORPHA:399805	NANOS1	340719	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	NANOS1	340719	HP:0008734	Decreased testicular size
ORPHA:399805	NANOS1	340719	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	NANOS1	340719	HP:0011962	Obstructive azoospermia
ORPHA:399805	SOHLH1	402381	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	SOHLH1	402381	HP:0008734	Decreased testicular size
ORPHA:399805	SOHLH1	402381	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	SOHLH1	402381	HP:0011962	Obstructive azoospermia
ORPHA:399805	TAF4B	6875	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	TAF4B	6875	HP:0008734	Decreased testicular size
ORPHA:399805	TAF4B	6875	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	TAF4B	6875	HP:0011962	Obstructive azoospermia
ORPHA:399805	TEX11	56159	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	TEX11	56159	HP:0008734	Decreased testicular size
ORPHA:399805	TEX11	56159	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	TEX11	56159	HP:0011962	Obstructive azoospermia
ORPHA:399805	SYCP3	50511	HP:0011961	Non-obstructive azoospermia
ORPHA:399805	SYCP3	50511	HP:0008734	Decreased testicular size
ORPHA:399805	SYCP3	50511	HP:0000837	Increased circulating gonadotropin level
ORPHA:399805	SYCP3	50511	HP:0011962	Obstructive azoospermia
OMIM:616860	GLRX5	51218	HP:0000007	Autosomal recessive inheritance
OMIM:616860	GLRX5	51218	HP:0001433	Hepatosplenomegaly
OMIM:616860	GLRX5	51218	HP:0001744	Splenomegaly
OMIM:616860	GLRX5	51218	HP:0003281	Increased serum ferritin
OMIM:616860	GLRX5	51218	HP:0025066	Decreased mean corpuscular volume
OMIM:616860	GLRX5	51218	HP:0012465	Elevated hepatic iron concentration
OMIM:616860	GLRX5	51218	HP:0000952	Jaundice
OMIM:616860	GLRX5	51218	HP:0005978	Type II diabetes mellitus
OMIM:616860	GLRX5	51218	HP:0002908	Conjugated hyperbilirubinemia
OMIM:616860	GLRX5	51218	HP:0002240	Hepatomegaly
OMIM:616860	GLRX5	51218	HP:0012132	Erythroid hyperplasia
OMIM:616860	GLRX5	51218	HP:0002910	Elevated hepatic transaminases
OMIM:616860	GLRX5	51218	HP:0011273	Anisocytosis
OMIM:616860	GLRX5	51218	HP:0001903	Anemia
OMIM:118100	GDF6	392255	HP:0000466	Limited neck range of motion
OMIM:118100	GDF6	392255	HP:0030325	Cervicomedullary schisis
OMIM:118100	GDF6	392255	HP:0002162	Low posterior hairline
OMIM:118100	GDF6	392255	HP:0001425	Heterogeneous
OMIM:118100	GDF6	392255	HP:0005640	Abnormal vertebral segmentation and fusion
OMIM:118100	GDF6	392255	HP:0003828	Variable expressivity
OMIM:118100	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:118100	GDF6	392255	HP:0004602	Cervical C2/C3 vertebral fusion
OMIM:118100	GDF6	392255	HP:0000470	Short neck
OMIM:617184	SLC25A4	291	HP:0001290	Generalized hypotonia
OMIM:617184	SLC25A4	291	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:617184	SLC25A4	291	HP:0001265	Hyporeflexia
OMIM:617184	SLC25A4	291	HP:0003577	Congenital onset
OMIM:617184	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:617184	SLC25A4	291	HP:0003128	Lactic acidosis
OMIM:605285	HK1	3098	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:605285	HK1	3098	HP:0001265	Hyporeflexia
OMIM:605285	HK1	3098	HP:0000007	Autosomal recessive inheritance
OMIM:605285	HK1	3098	HP:0001760	Abnormality of the foot
OMIM:605285	HK1	3098	HP:0003676	Progressive
OMIM:605285	HK1	3098	HP:0002355	Difficulty walking
OMIM:605285	HK1	3098	HP:0001155	Abnormality of the hand
OMIM:605285	HK1	3098	HP:0007182	Peripheral hypomyelination
OMIM:605285	HK1	3098	HP:0002460	Distal muscle weakness
OMIM:605285	HK1	3098	HP:0003450	Axonal regeneration
OMIM:605285	HK1	3098	HP:0009830	Peripheral neuropathy
OMIM:605285	HK1	3098	HP:0003431	Decreased motor nerve conduction velocity
ORPHA:909	CYP27A1	1593	HP:0001681	Angina pectoris
ORPHA:909	CYP27A1	1593	HP:0000504	Abnormality of vision
ORPHA:909	CYP27A1	1593	HP:0001336	Myoclonus
ORPHA:909	CYP27A1	1593	HP:0000518	Cataract
ORPHA:909	CYP27A1	1593	HP:0002167	Neurological speech impairment
ORPHA:909	CYP27A1	1593	HP:0007256	Abnormal pyramidal signs
ORPHA:909	CYP27A1	1593	HP:0001324	Muscle weakness
ORPHA:909	CYP27A1	1593	HP:0001332	Dystonia
ORPHA:909	CYP27A1	1593	HP:0002518	Abnormality of the periventricular white matter
ORPHA:909	CYP27A1	1593	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:909	CYP27A1	1593	HP:0009830	Peripheral neuropathy
ORPHA:909	CYP27A1	1593	HP:0001257	Spasticity
ORPHA:909	CYP27A1	1593	HP:0001658	Myocardial infarction
ORPHA:909	CYP27A1	1593	HP:0001249	Intellectual disability
ORPHA:909	CYP27A1	1593	HP:0001114	Xanthelasma
ORPHA:909	CYP27A1	1593	HP:0000738	Hallucinations
ORPHA:909	CYP27A1	1593	HP:0001347	Hyperreflexia
ORPHA:909	CYP27A1	1593	HP:0001337	Tremor
ORPHA:909	CYP27A1	1593	HP:0000716	Depressivity
ORPHA:909	CYP27A1	1593	HP:0003124	Hypercholesterolemia
ORPHA:909	CYP27A1	1593	HP:0002376	Developmental regression
OMIM:269150	SETBP1	26040	HP:0000348	High forehead
OMIM:269150	SETBP1	26040	HP:0009882	Short distal phalanx of finger
OMIM:269150	SETBP1	26040	HP:0001162	Postaxial hand polydactyly
OMIM:269150	SETBP1	26040	HP:0002884	Hepatoblastoma
OMIM:269150	SETBP1	26040	HP:0004492	Widely patent fontanelles and sutures
OMIM:269150	SETBP1	26040	HP:0000272	Malar flattening
OMIM:269150	SETBP1	26040	HP:0005495	Metopic suture patent to nasal root
OMIM:269150	SETBP1	26040	HP:0001762	Talipes equinovarus
OMIM:269150	SETBP1	26040	HP:0000452	Choanal stenosis
OMIM:269150	SETBP1	26040	HP:0000813	Bicornuate uterus
OMIM:269150	SETBP1	26040	HP:0000046	Scrotal hypoplasia
OMIM:269150	SETBP1	26040	HP:0000586	Shallow orbits
OMIM:269150	SETBP1	26040	HP:0011220	Prominent forehead
OMIM:269150	SETBP1	26040	HP:0000071	Ureteral stenosis
OMIM:269150	SETBP1	26040	HP:0000879	Short sternum
OMIM:269150	SETBP1	26040	HP:0000885	Broad ribs
OMIM:269150	SETBP1	26040	HP:0006387	Wide distal femoral metaphysis
OMIM:269150	SETBP1	26040	HP:0001795	Hyperconvex nail
OMIM:269150	SETBP1	26040	HP:0005280	Depressed nasal bridge
OMIM:269150	SETBP1	26040	HP:0000064	Hypoplastic labia minora
OMIM:269150	SETBP1	26040	HP:0000935	Thickened cortex of long bones
OMIM:269150	SETBP1	26040	HP:0001250	Seizures
OMIM:269150	SETBP1	26040	HP:0002521	Hypsarrhythmia
OMIM:269150	SETBP1	26040	HP:0000340	Sloping forehead
OMIM:269150	SETBP1	26040	HP:0001739	Abnormality of the nasopharynx
OMIM:269150	SETBP1	26040	HP:0000890	Long clavicles
OMIM:269150	SETBP1	26040	HP:0002059	Cerebral atrophy
OMIM:269150	SETBP1	26040	HP:0009104	Aplasia/Hypoplasia of the pubic bone
OMIM:269150	SETBP1	26040	HP:0002179	Opisthotonus
OMIM:269150	SETBP1	26040	HP:0002694	Sclerosis of skull base
OMIM:269150	SETBP1	26040	HP:0000463	Anteverted nares
OMIM:269150	SETBP1	26040	HP:0000954	Single transverse palmar crease
OMIM:269150	SETBP1	26040	HP:0000006	Autosomal dominant inheritance
OMIM:269150	SETBP1	26040	HP:0000072	Hydroureter
OMIM:269150	SETBP1	26040	HP:0002079	Hypoplasia of the corpus callosum
OMIM:269150	SETBP1	26040	HP:0000998	Hypertrichosis
OMIM:269150	SETBP1	26040	HP:0002557	Hypoplastic nipples
OMIM:269150	SETBP1	26040	HP:0003196	Short nose
OMIM:269150	SETBP1	26040	HP:0006657	Hypoplasia of first ribs
OMIM:269150	SETBP1	26040	HP:0011800	Midface retrusion
OMIM:269150	SETBP1	26040	HP:0030736	Sacrococcygeal teratoma
OMIM:269150	SETBP1	26040	HP:0001249	Intellectual disability
OMIM:269150	SETBP1	26040	HP:0001631	Atrial septal defect
OMIM:269150	SETBP1	26040	HP:0002119	Ventriculomegaly
OMIM:269150	SETBP1	26040	HP:0000047	Hypospadias
OMIM:269150	SETBP1	26040	HP:0000329	Facial hemangioma
OMIM:269150	SETBP1	26040	HP:0000054	Micropenis
OMIM:269150	SETBP1	26040	HP:0006392	Increased density of long bones
OMIM:269150	SETBP1	26040	HP:0010034	Short 1st metacarpal
OMIM:269150	SETBP1	26040	HP:0008897	Postnatal growth retardation
OMIM:269150	SETBP1	26040	HP:0000126	Hydronephrosis
OMIM:269150	SETBP1	26040	HP:0002982	Tibial bowing
OMIM:269150	SETBP1	26040	HP:0002645	Wormian bones
OMIM:269150	SETBP1	26040	HP:0000280	Coarse facial features
OMIM:269150	SETBP1	26040	HP:0000158	Macroglossia
OMIM:269150	SETBP1	26040	HP:0000316	Hypertelorism
OMIM:269150	SETBP1	26040	HP:0000369	Low-set ears
OMIM:269150	SETBP1	26040	HP:0000059	Hypoplastic labia majora
OMIM:269150	SETBP1	26040	HP:0000470	Short neck
OMIM:269150	SETBP1	26040	HP:0001508	Failure to thrive
OMIM:613495	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:613495	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:613495	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:613495	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:613495	MS4A1	931	HP:0002205	Recurrent respiratory infections
OMIM:615279	MAP2K1	5604	HP:0001250	Seizures
OMIM:615279	MAP2K1	5604	HP:0004349	Reduced bone mineral density
OMIM:615279	MAP2K1	5604	HP:0001508	Failure to thrive
OMIM:615279	MAP2K1	5604	HP:0000767	Pectus excavatum
OMIM:615279	MAP2K1	5604	HP:0001263	Global developmental delay
OMIM:615279	MAP2K1	5604	HP:0002212	Curly hair
OMIM:615279	MAP2K1	5604	HP:0008050	Abnormality of the palpebral fissures
OMIM:615279	MAP2K1	5604	HP:0000975	Hyperhidrosis
OMIM:615279	MAP2K1	5604	HP:0000154	Wide mouth
OMIM:615279	MAP2K1	5604	HP:0000639	Nystagmus
OMIM:615279	MAP2K1	5604	HP:0001252	Muscular hypotonia
OMIM:615279	MAP2K1	5604	HP:0002046	Heat intolerance
OMIM:615279	MAP2K1	5604	HP:0001642	Pulmonic stenosis
OMIM:615279	MAP2K1	5604	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615279	MAP2K1	5604	HP:0040180	Hyperkeratosis pilaris
OMIM:615279	MAP2K1	5604	HP:0002650	Scoliosis
ORPHA:199296	TBX19	9095	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:199296	TBX19	9095	HP:0001998	Neonatal hypoglycemia
ORPHA:199296	TBX19	9095	HP:0002902	Hyponatremia
ORPHA:199296	TBX19	9095	HP:0012378	Fatigue
ORPHA:199296	TBX19	9095	HP:0006579	Prolonged neonatal jaundice
ORPHA:199296	TBX19	9095	HP:0008163	Decreased circulating cortisol level
ORPHA:199296	TBX19	9095	HP:0000835	Adrenal hypoplasia
ORPHA:199296	TBX19	9095	HP:0002615	Hypotension
ORPHA:199296	TBX19	9095	HP:0002173	Hypoglycemic seizures
ORPHA:2315	UBR1	197131	HP:0000142	Abnormality of the vagina
ORPHA:2315	UBR1	197131	HP:0001511	Intrauterine growth retardation
ORPHA:2315	UBR1	197131	HP:0000677	Oligodontia
ORPHA:2315	UBR1	197131	HP:0001249	Intellectual disability
ORPHA:2315	UBR1	197131	HP:0001596	Alopecia
ORPHA:2315	UBR1	197131	HP:0001903	Anemia
ORPHA:2315	UBR1	197131	HP:0000632	Lacrimation abnormality
ORPHA:2315	UBR1	197131	HP:0000684	Delayed eruption of teeth
ORPHA:2315	UBR1	197131	HP:0004322	Short stature
ORPHA:2315	UBR1	197131	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:2315	UBR1	197131	HP:0003196	Short nose
ORPHA:2315	UBR1	197131	HP:0003075	Hypoproteinemia
ORPHA:2315	UBR1	197131	HP:0001508	Failure to thrive
ORPHA:2315	UBR1	197131	HP:0002024	Malabsorption
ORPHA:2315	UBR1	197131	HP:0001545	Anteriorly placed anus
ORPHA:2315	UBR1	197131	HP:0002750	Delayed skeletal maturation
ORPHA:2315	UBR1	197131	HP:0010720	Abnormal hair pattern
ORPHA:2315	UBR1	197131	HP:0001092	Absent lacrimal punctum
ORPHA:2315	UBR1	197131	HP:0002023	Anal atresia
ORPHA:2315	UBR1	197131	HP:0000691	Microdontia
ORPHA:2315	UBR1	197131	HP:0000430	Underdeveloped nasal alae
ORPHA:2315	UBR1	197131	HP:0000407	Sensorineural hearing impairment
OMIM:105210	TTR	7276	HP:0003581	Adult onset
OMIM:105210	TTR	7276	HP:0010550	Paraplegia
OMIM:105210	TTR	7276	HP:0002315	Headache
OMIM:105210	TTR	7276	HP:0002014	Diarrhea
OMIM:105210	TTR	7276	HP:0011034	Amyloidosis
OMIM:105210	TTR	7276	HP:0002459	Dysautonomia
OMIM:105210	TTR	7276	HP:0003812	Phenotypic variability
OMIM:105210	TTR	7276	HP:0003676	Progressive
OMIM:105210	TTR	7276	HP:0000505	Visual impairment
OMIM:105210	TTR	7276	HP:0001337	Tremor
OMIM:105210	TTR	7276	HP:0003477	Peripheral axonal neuropathy
OMIM:105210	TTR	7276	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
OMIM:105210	TTR	7276	HP:0001271	Polyneuropathy
OMIM:105210	TTR	7276	HP:0000020	Urinary incontinence
OMIM:105210	TTR	7276	HP:0000726	Dementia
OMIM:105210	TTR	7276	HP:0001250	Seizures
OMIM:105210	TTR	7276	HP:0001260	Dysarthria
OMIM:105210	TTR	7276	HP:0012185	Constrictive median neuropathy
OMIM:105210	TTR	7276	HP:0002922	Increased CSF protein
OMIM:105210	TTR	7276	HP:0000006	Autosomal dominant inheritance
OMIM:105210	TTR	7276	HP:0000365	Hearing impairment
OMIM:105210	TTR	7276	HP:0007841	Amyloid deposition in the vitreous humor
OMIM:105210	TTR	7276	HP:0001257	Spasticity
OMIM:105210	TTR	7276	HP:0000802	Impotence
OMIM:105210	TTR	7276	HP:0002401	Stroke-like episode
OMIM:105210	TTR	7276	HP:0001265	Hyporeflexia
OMIM:105210	TTR	7276	HP:0001251	Ataxia
OMIM:105210	TTR	7276	HP:0001324	Muscle weakness
OMIM:105210	TTR	7276	HP:0001640	Cardiomegaly
OMIM:105210	TTR	7276	HP:0000639	Nystagmus
OMIM:105210	TTR	7276	HP:0001269	Hemiparesis
OMIM:105210	TTR	7276	HP:0001638	Cardiomyopathy
OMIM:105210	TTR	7276	HP:0002019	Constipation
OMIM:300818	PIGA	5277	HP:0001428	Somatic mutation
OMIM:300818	PIGA	5277	HP:0004818	Paroxysmal nocturnal hemoglobinuria
OMIM:613411	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:613411	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:604393	AIPL1	23746	HP:0012043	Pendular nystagmus
OMIM:604393	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:604393	AIPL1	23746	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:604393	AIPL1	23746	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:604393	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:604393	AIPL1	23746	HP:0007401	Macular atrophy
OMIM:612287	SLC9A3R1	9368	HP:0002148	Hypophosphatemia
OMIM:612287	SLC9A3R1	9368	HP:0000787	Nephrolithiasis
OMIM:612287	SLC9A3R1	9368	HP:0002659	Increased susceptibility to fractures
OMIM:612287	SLC9A3R1	9368	HP:0000938	Osteopenia
OMIM:612287	SLC9A3R1	9368	HP:0003109	Hyperphosphaturia
OMIM:612287	SLC9A3R1	9368	HP:0000006	Autosomal dominant inheritance
OMIM:612287	SLC9A3R1	9368	HP:0000939	Osteoporosis
OMIM:612287	SLC9A3R1	9368	HP:0000117	Renal phosphate wasting
OMIM:103580	GNAS	2778	HP:0000470	Short neck
OMIM:103580	GNAS	2778	HP:0001831	Short toe
OMIM:103580	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:103580	GNAS	2778	HP:0000311	Round face
OMIM:103580	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:103580	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:103580	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:103580	GNAS	2778	HP:0001513	Obesity
OMIM:103580	GNAS	2778	HP:0001250	Seizures
OMIM:103580	GNAS	2778	HP:0000639	Nystagmus
OMIM:103580	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:103580	GNAS	2778	HP:0000939	Osteoporosis
OMIM:103580	GNAS	2778	HP:0010049	Short metacarpal
OMIM:103580	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:103580	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:103580	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:103580	GNAS	2778	HP:0001249	Intellectual disability
OMIM:103580	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:103580	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:103580	GNAS	2778	HP:0001156	Brachydactyly
OMIM:103580	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:103580	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:103580	GNAS	2778	HP:0010743	Short metatarsal
OMIM:103580	GNAS	2778	HP:0000135	Hypogonadism
OMIM:103580	GNAS	2778	HP:0002684	Thickened calvaria
OMIM:103580	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:103580	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:103580	GNAS	2778	HP:0009381	Short finger
OMIM:103580	GNAS	2778	HP:0000293	Full cheeks
OMIM:103580	GNAS	2778	HP:0000518	Cataract
OMIM:103580	GNAS	2778	HP:0004322	Short stature
ORPHA:67044	GATA1	2623	HP:0004447	Poikilocytosis
ORPHA:67044	GATA1	2623	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
ORPHA:67044	GATA1	2623	HP:0040185	Macrothrombocytopenia
ORPHA:67044	GATA1	2623	HP:0011273	Anisocytosis
ORPHA:67044	GATA1	2623	HP:0001931	Hypochromic anemia
ORPHA:67044	GATA1	2623	HP:0000028	Cryptorchidism
ORPHA:67044	GATA1	2623	HP:0012143	Abnormality of cells of the megakaryocyte lineage
ORPHA:67044	GATA1	2623	HP:0045040	Abnormal lactate dehydrogenase activity
OMIM:615349	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:615349	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:615349	B3GALT6	126792	HP:0008070	Sparse hair
OMIM:615349	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:615349	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:615349	B3GALT6	126792	HP:0000520	Proptosis
OMIM:615349	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:615349	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:615349	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:615349	B3GALT6	126792	HP:0001290	Generalized hypotonia
OMIM:615349	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:615349	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:615349	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:615349	B3GALT6	126792	HP:0012368	Flat face
OMIM:615349	B3GALT6	126792	HP:0000973	Cutis laxa
OMIM:615349	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:615349	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:120435	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:120435	PMS1	5378	HP:0003003	Colon cancer
OMIM:120435	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:120435	MSH2	4436	HP:0003003	Colon cancer
OMIM:615681	ERLIN1	10613	HP:0002061	Lower limb spasticity
OMIM:615681	ERLIN1	10613	HP:0000007	Autosomal recessive inheritance
OMIM:615681	ERLIN1	10613	HP:0002169	Clonus
OMIM:615681	ERLIN1	10613	HP:0003676	Progressive
OMIM:615681	ERLIN1	10613	HP:0030051	Tip-toe gait
OMIM:615681	ERLIN1	10613	HP:0002064	Spastic gait
OMIM:615681	ERLIN1	10613	HP:0002355	Difficulty walking
OMIM:617168	LOX	4015	HP:0000006	Autosomal dominant inheritance
OMIM:616276	COQ4	51117	HP:0000007	Autosomal recessive inheritance
OMIM:616276	COQ4	51117	HP:0001319	Neonatal hypotonia
OMIM:616276	COQ4	51117	HP:0002093	Respiratory insufficiency
OMIM:616276	COQ4	51117	HP:0002151	Increased serum lactate
OMIM:616276	COQ4	51117	HP:0002015	Dysphagia
OMIM:610187	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2143	LRP2	4036	HP:0000358	Posteriorly rotated ears
ORPHA:2143	LRP2	4036	HP:0000260	Wide anterior fontanel
ORPHA:2143	LRP2	4036	HP:0001263	Global developmental delay
ORPHA:2143	LRP2	4036	HP:0000545	Myopia
ORPHA:2143	LRP2	4036	HP:0005280	Depressed nasal bridge
ORPHA:2143	LRP2	4036	HP:0000093	Proteinuria
ORPHA:2143	LRP2	4036	HP:0000407	Sensorineural hearing impairment
ORPHA:2143	LRP2	4036	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2143	LRP2	4036	HP:0000316	Hypertelorism
ORPHA:2143	LRP2	4036	HP:0000541	Retinal detachment
ORPHA:2143	LRP2	4036	HP:0003196	Short nose
ORPHA:2143	LRP2	4036	HP:0001249	Intellectual disability
ORPHA:2143	LRP2	4036	HP:0000529	Progressive visual loss
ORPHA:2143	LRP2	4036	HP:0001537	Umbilical hernia
ORPHA:2143	LRP2	4036	HP:0001539	Omphalocele
ORPHA:2143	LRP2	4036	HP:0000256	Macrocephaly
ORPHA:2143	LRP2	4036	HP:0000337	Broad forehead
ORPHA:2143	LRP2	4036	HP:0000349	Widow's peak
ORPHA:2143	LRP2	4036	HP:0000520	Proptosis
ORPHA:2143	LRP2	4036	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2143	LRP2	4036	HP:0000494	Downslanted palpebral fissures
OMIM:610017	GDF5	8200	HP:0100264	Proximal symphalangism
OMIM:610017	GDF5	8200	HP:0003041	Humeroradial synostosis
OMIM:610017	GDF5	8200	HP:0009702	Carpal synostosis
OMIM:610017	GDF5	8200	HP:0001156	Brachydactyly
OMIM:610017	GDF5	8200	HP:0009700	Finger symphalangism
OMIM:610017	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:610017	GDF5	8200	HP:0000445	Wide nose
OMIM:610017	GDF5	8200	HP:0002948	Vertebral fusion
OMIM:610017	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GDF1	2657	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GDF1	2657	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GDF1	2657	HP:0004467	Preauricular pit
OMIM:187500	GDF1	2657	HP:0000520	Proptosis
OMIM:187500	GDF1	2657	HP:0000337	Broad forehead
OMIM:187500	GDF1	2657	HP:0001636	Tetralogy of Fallot
OMIM:187500	GATA4	2626	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GATA4	2626	HP:0004467	Preauricular pit
OMIM:187500	GATA4	2626	HP:0000520	Proptosis
OMIM:187500	GATA4	2626	HP:0000337	Broad forehead
OMIM:187500	GATA4	2626	HP:0001636	Tetralogy of Fallot
OMIM:187500	GATA6	2627	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GATA6	2627	HP:0004467	Preauricular pit
OMIM:187500	GATA6	2627	HP:0000520	Proptosis
OMIM:187500	GATA6	2627	HP:0000337	Broad forehead
OMIM:187500	GATA6	2627	HP:0001636	Tetralogy of Fallot
OMIM:187500	TBX1	6899	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:187500	TBX1	6899	HP:0004467	Preauricular pit
OMIM:187500	TBX1	6899	HP:0000520	Proptosis
OMIM:187500	TBX1	6899	HP:0000337	Broad forehead
OMIM:187500	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:187500	JAG1	182	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	JAG1	182	HP:0000006	Autosomal dominant inheritance
OMIM:187500	JAG1	182	HP:0004467	Preauricular pit
OMIM:187500	JAG1	182	HP:0000520	Proptosis
OMIM:187500	JAG1	182	HP:0000337	Broad forehead
OMIM:187500	JAG1	182	HP:0001636	Tetralogy of Fallot
OMIM:187500	ZFPM2	23414	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:187500	ZFPM2	23414	HP:0004467	Preauricular pit
OMIM:187500	ZFPM2	23414	HP:0000520	Proptosis
OMIM:187500	ZFPM2	23414	HP:0000337	Broad forehead
OMIM:187500	ZFPM2	23414	HP:0001636	Tetralogy of Fallot
OMIM:187500	NKX2-5	1482	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:187500	NKX2-5	1482	HP:0004467	Preauricular pit
OMIM:187500	NKX2-5	1482	HP:0000520	Proptosis
OMIM:187500	NKX2-5	1482	HP:0000337	Broad forehead
OMIM:187500	NKX2-5	1482	HP:0001636	Tetralogy of Fallot
OMIM:614674	HTR1A	3350	HP:0002076	Migraine
OMIM:614674	HTR1A	3350	HP:0000006	Autosomal dominant inheritance
OMIM:614674	HTR1A	3350	HP:0001945	Fever
ORPHA:740	LMNA	4000	HP:0000520	Proptosis
ORPHA:740	LMNA	4000	HP:0002905	Hyperphosphatemia
ORPHA:740	LMNA	4000	HP:0000540	Hypermetropia
ORPHA:740	LMNA	4000	HP:0000407	Sensorineural hearing impairment
ORPHA:740	LMNA	4000	HP:0001006	Hypotrichosis
ORPHA:740	LMNA	4000	HP:0000684	Delayed eruption of teeth
ORPHA:740	LMNA	4000	HP:0000939	Osteoporosis
ORPHA:740	LMNA	4000	HP:0008070	Sparse hair
ORPHA:740	LMNA	4000	HP:0011220	Prominent forehead
ORPHA:740	LMNA	4000	HP:0000894	Short clavicles
ORPHA:740	LMNA	4000	HP:0008197	Absence of pubertal development
ORPHA:740	LMNA	4000	HP:0011832	Narrow nasal tip
ORPHA:740	LMNA	4000	HP:0004322	Short stature
ORPHA:740	LMNA	4000	HP:0000233	Thin vermilion border
ORPHA:740	LMNA	4000	HP:0000400	Macrotia
ORPHA:740	LMNA	4000	HP:0000789	Infertility
ORPHA:740	LMNA	4000	HP:0002164	Nail dysplasia
ORPHA:740	LMNA	4000	HP:0001596	Alopecia
ORPHA:740	LMNA	4000	HP:0100671	Abnormal trabecular bone morphology
ORPHA:740	LMNA	4000	HP:0001043	Prominent scalp veins
ORPHA:740	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:740	LMNA	4000	HP:0100679	Lack of skin elasticity
ORPHA:740	LMNA	4000	HP:0000883	Thin ribs
ORPHA:740	LMNA	4000	HP:0000347	Micrognathia
ORPHA:740	LMNA	4000	HP:0000961	Cyanosis
ORPHA:740	LMNA	4000	HP:0003016	Metaphyseal widening
ORPHA:740	LMNA	4000	HP:0000842	Hyperinsulinemia
ORPHA:740	LMNA	4000	HP:0002828	Multiple joint contractures
ORPHA:740	LMNA	4000	HP:0005181	Premature coronary artery disease
ORPHA:740	LMNA	4000	HP:0008214	Decreased serum estradiol
ORPHA:740	LMNA	4000	HP:0004417	Intermittent claudication
ORPHA:740	LMNA	4000	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:740	LMNA	4000	HP:0002808	Kyphosis
ORPHA:740	LMNA	4000	HP:0001097	Keratoconjunctivitis sicca
ORPHA:740	LMNA	4000	HP:0001387	Joint stiffness
ORPHA:740	LMNA	4000	HP:0001620	High pitched voice
ORPHA:740	LMNA	4000	HP:0001397	Hepatic steatosis
ORPHA:740	LMNA	4000	HP:0002753	Thin bony cortex
ORPHA:740	LMNA	4000	HP:0000966	Hypohidrosis
ORPHA:740	LMNA	4000	HP:0000535	Sparse and thin eyebrow
ORPHA:740	LMNA	4000	HP:0006660	Aplastic clavicles
ORPHA:740	LMNA	4000	HP:0002136	Broad-based gait
ORPHA:740	LMNA	4000	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:740	LMNA	4000	HP:0004492	Widely patent fontanelles and sutures
ORPHA:740	LMNA	4000	HP:0001816	Thin nail
ORPHA:740	LMNA	4000	HP:0002216	Premature graying of hair
ORPHA:740	LMNA	4000	HP:0000963	Thin skin
ORPHA:740	LMNA	4000	HP:0001508	Failure to thrive
ORPHA:740	LMNA	4000	HP:0008230	Decreased testosterone in males
ORPHA:740	LMNA	4000	HP:0003355	Aminoaciduria
ORPHA:740	LMNA	4000	HP:0000160	Narrow mouth
ORPHA:740	LMNA	4000	HP:0000561	Absent eyelashes
ORPHA:740	LMNA	4000	HP:0002758	Osteoarthritis
ORPHA:740	LMNA	4000	HP:0005461	Craniofacial disproportion
ORPHA:740	LMNA	4000	HP:0000320	Bird-like facies
ORPHA:740	LMNA	4000	HP:0002692	Hypoplastic facial bones
ORPHA:740	LMNA	4000	HP:0001681	Angina pectoris
ORPHA:740	LMNA	4000	HP:0008151	Prolonged prothrombin time
ORPHA:740	LMNA	4000	HP:0001611	Nasal speech
ORPHA:740	LMNA	4000	HP:0000668	Hypodontia
ORPHA:740	LMNA	4000	HP:0001894	Thrombocytosis
ORPHA:740	LMNA	4000	HP:0004931	Arteriosclerosis of small cerebral arteries
ORPHA:740	LMNA	4000	HP:0003300	Ovoid vertebral bodies
ORPHA:740	LMNA	4000	HP:0007427	Reticulated skin pigmentation
ORPHA:740	LMNA	4000	HP:0006224	Tapering pointed ends of distal finger phalanges
ORPHA:740	LMNA	4000	HP:0002557	Hypoplastic nipples
ORPHA:740	LMNA	4000	HP:0000822	Hypertension
ORPHA:740	LMNA	4000	HP:0010665	Bilateral coxa valga
ORPHA:740	ZMPSTE24	10269	HP:0000520	Proptosis
ORPHA:740	ZMPSTE24	10269	HP:0002905	Hyperphosphatemia
ORPHA:740	ZMPSTE24	10269	HP:0000540	Hypermetropia
ORPHA:740	ZMPSTE24	10269	HP:0000407	Sensorineural hearing impairment
ORPHA:740	ZMPSTE24	10269	HP:0001006	Hypotrichosis
ORPHA:740	ZMPSTE24	10269	HP:0000684	Delayed eruption of teeth
ORPHA:740	ZMPSTE24	10269	HP:0000939	Osteoporosis
ORPHA:740	ZMPSTE24	10269	HP:0008070	Sparse hair
ORPHA:740	ZMPSTE24	10269	HP:0011220	Prominent forehead
ORPHA:740	ZMPSTE24	10269	HP:0000894	Short clavicles
ORPHA:740	ZMPSTE24	10269	HP:0008197	Absence of pubertal development
ORPHA:740	ZMPSTE24	10269	HP:0011832	Narrow nasal tip
ORPHA:740	ZMPSTE24	10269	HP:0004322	Short stature
ORPHA:740	ZMPSTE24	10269	HP:0000233	Thin vermilion border
ORPHA:740	ZMPSTE24	10269	HP:0000400	Macrotia
ORPHA:740	ZMPSTE24	10269	HP:0000789	Infertility
ORPHA:740	ZMPSTE24	10269	HP:0002164	Nail dysplasia
ORPHA:740	ZMPSTE24	10269	HP:0001596	Alopecia
ORPHA:740	ZMPSTE24	10269	HP:0100671	Abnormal trabecular bone morphology
ORPHA:740	ZMPSTE24	10269	HP:0001043	Prominent scalp veins
ORPHA:740	ZMPSTE24	10269	HP:0100578	Lipoatrophy
ORPHA:740	ZMPSTE24	10269	HP:0100679	Lack of skin elasticity
ORPHA:740	ZMPSTE24	10269	HP:0000883	Thin ribs
ORPHA:740	ZMPSTE24	10269	HP:0000347	Micrognathia
ORPHA:740	ZMPSTE24	10269	HP:0000961	Cyanosis
ORPHA:740	ZMPSTE24	10269	HP:0003016	Metaphyseal widening
ORPHA:740	ZMPSTE24	10269	HP:0000842	Hyperinsulinemia
ORPHA:740	ZMPSTE24	10269	HP:0002828	Multiple joint contractures
ORPHA:740	ZMPSTE24	10269	HP:0005181	Premature coronary artery disease
ORPHA:740	ZMPSTE24	10269	HP:0008214	Decreased serum estradiol
ORPHA:740	ZMPSTE24	10269	HP:0004417	Intermittent claudication
ORPHA:740	ZMPSTE24	10269	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:740	ZMPSTE24	10269	HP:0002808	Kyphosis
ORPHA:740	ZMPSTE24	10269	HP:0001097	Keratoconjunctivitis sicca
ORPHA:740	ZMPSTE24	10269	HP:0001387	Joint stiffness
ORPHA:740	ZMPSTE24	10269	HP:0001620	High pitched voice
ORPHA:740	ZMPSTE24	10269	HP:0001397	Hepatic steatosis
ORPHA:740	ZMPSTE24	10269	HP:0002753	Thin bony cortex
ORPHA:740	ZMPSTE24	10269	HP:0000966	Hypohidrosis
ORPHA:740	ZMPSTE24	10269	HP:0000535	Sparse and thin eyebrow
ORPHA:740	ZMPSTE24	10269	HP:0006660	Aplastic clavicles
ORPHA:740	ZMPSTE24	10269	HP:0002136	Broad-based gait
ORPHA:740	ZMPSTE24	10269	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:740	ZMPSTE24	10269	HP:0004492	Widely patent fontanelles and sutures
ORPHA:740	ZMPSTE24	10269	HP:0001816	Thin nail
ORPHA:740	ZMPSTE24	10269	HP:0002216	Premature graying of hair
ORPHA:740	ZMPSTE24	10269	HP:0000963	Thin skin
ORPHA:740	ZMPSTE24	10269	HP:0001508	Failure to thrive
ORPHA:740	ZMPSTE24	10269	HP:0008230	Decreased testosterone in males
ORPHA:740	ZMPSTE24	10269	HP:0003355	Aminoaciduria
ORPHA:740	ZMPSTE24	10269	HP:0000160	Narrow mouth
ORPHA:740	ZMPSTE24	10269	HP:0000561	Absent eyelashes
ORPHA:740	ZMPSTE24	10269	HP:0002758	Osteoarthritis
ORPHA:740	ZMPSTE24	10269	HP:0005461	Craniofacial disproportion
ORPHA:740	ZMPSTE24	10269	HP:0000320	Bird-like facies
ORPHA:740	ZMPSTE24	10269	HP:0002692	Hypoplastic facial bones
ORPHA:740	ZMPSTE24	10269	HP:0001681	Angina pectoris
ORPHA:740	ZMPSTE24	10269	HP:0008151	Prolonged prothrombin time
ORPHA:740	ZMPSTE24	10269	HP:0001611	Nasal speech
ORPHA:740	ZMPSTE24	10269	HP:0000668	Hypodontia
ORPHA:740	ZMPSTE24	10269	HP:0001894	Thrombocytosis
ORPHA:740	ZMPSTE24	10269	HP:0004931	Arteriosclerosis of small cerebral arteries
ORPHA:740	ZMPSTE24	10269	HP:0003300	Ovoid vertebral bodies
ORPHA:740	ZMPSTE24	10269	HP:0007427	Reticulated skin pigmentation
ORPHA:740	ZMPSTE24	10269	HP:0006224	Tapering pointed ends of distal finger phalanges
ORPHA:740	ZMPSTE24	10269	HP:0002557	Hypoplastic nipples
ORPHA:740	ZMPSTE24	10269	HP:0000822	Hypertension
ORPHA:740	ZMPSTE24	10269	HP:0010665	Bilateral coxa valga
OMIM:219800	CTNS	1497	HP:0003358	Elevated intracellular cystine
OMIM:219800	CTNS	1497	HP:0000083	Renal insufficiency
OMIM:219800	CTNS	1497	HP:0003198	Myopathy
OMIM:219800	CTNS	1497	HP:0005599	Hypopigmentation of hair
OMIM:219800	CTNS	1497	HP:0003234	Decreased plasma carnitine
OMIM:219800	CTNS	1497	HP:0002015	Dysphagia
OMIM:219800	CTNS	1497	HP:0000819	Diabetes mellitus
OMIM:219800	CTNS	1497	HP:0002750	Delayed skeletal maturation
OMIM:219800	CTNS	1497	HP:0000103	Polyuria
OMIM:219800	CTNS	1497	HP:0001738	Exocrine pancreatic insufficiency
OMIM:219800	CTNS	1497	HP:0000966	Hypohidrosis
OMIM:219800	CTNS	1497	HP:0000823	Delayed puberty
OMIM:219800	CTNS	1497	HP:0002240	Hepatomegaly
OMIM:219800	CTNS	1497	HP:0001959	Polydipsia
OMIM:219800	CTNS	1497	HP:0000505	Visual impairment
OMIM:219800	CTNS	1497	HP:0000613	Photophobia
OMIM:219800	CTNS	1497	HP:0000093	Proteinuria
OMIM:219800	CTNS	1497	HP:0002907	Microscopic hematuria
OMIM:219800	CTNS	1497	HP:0001744	Splenomegaly
OMIM:219800	CTNS	1497	HP:0001531	Failure to thrive in infancy
OMIM:219800	CTNS	1497	HP:0003076	Glycosuria
OMIM:219800	CTNS	1497	HP:0001010	Hypopigmentation of the skin
OMIM:219800	CTNS	1497	HP:0001944	Dehydration
OMIM:219800	CTNS	1497	HP:0002857	Genu valgum
OMIM:219800	CTNS	1497	HP:0000832	Primary hypothyroidism
OMIM:219800	CTNS	1497	HP:0002344	Progressive neurologic deterioration
OMIM:219800	CTNS	1497	HP:0000580	Pigmentary retinopathy
OMIM:219800	CTNS	1497	HP:0003016	Metaphyseal widening
OMIM:219800	CTNS	1497	HP:0004912	Hypophosphatemic rickets
OMIM:219800	CTNS	1497	HP:0007814	Retinal pigment epithelial mottling
OMIM:219800	CTNS	1497	HP:0002059	Cerebral atrophy
OMIM:219800	CTNS	1497	HP:0000897	Rachitic rosary
OMIM:219800	CTNS	1497	HP:0003251	Male infertility
OMIM:219800	CTNS	1497	HP:0000531	Corneal crystals
OMIM:219800	CTNS	1497	HP:0002902	Hyponatremia
OMIM:219800	CTNS	1497	HP:0002909	Generalized aminoaciduria
OMIM:219800	CTNS	1497	HP:0002007	Frontal bossing
OMIM:219800	CTNS	1497	HP:0000495	Recurrent corneal erosions
OMIM:219800	CTNS	1497	HP:0000787	Nephrolithiasis
OMIM:219800	CTNS	1497	HP:0003202	Skeletal muscle atrophy
OMIM:219800	CTNS	1497	HP:0004911	Episodic metabolic acidosis
OMIM:219800	CTNS	1497	HP:0001608	Abnormality of the voice
OMIM:219800	CTNS	1497	HP:0007663	Reduced visual acuity
OMIM:219800	CTNS	1497	HP:0004322	Short stature
OMIM:219800	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219800	CTNS	1497	HP:0001994	Renal Fanconi syndrome
OMIM:613179	PNP	4860	HP:0001904	Autoimmune neutropenia
OMIM:613179	PNP	4860	HP:0002090	Pneumonia
OMIM:613179	PNP	4860	HP:0000010	Recurrent urinary tract infections
OMIM:613179	PNP	4860	HP:0001249	Intellectual disability
OMIM:613179	PNP	4860	HP:0005372	Abnormality of B cell physiology
OMIM:613179	PNP	4860	HP:0001337	Tremor
OMIM:613179	PNP	4860	HP:0001270	Motor delay
OMIM:613179	PNP	4860	HP:0001290	Generalized hypotonia
OMIM:613179	PNP	4860	HP:0001890	Autoimmune hemolytic anemia
OMIM:613179	PNP	4860	HP:0005318	Cerebral vasculitis
OMIM:613179	PNP	4860	HP:0002718	Recurrent bacterial infections
OMIM:613179	PNP	4860	HP:0002732	Lymph node hypoplasia
OMIM:613179	PNP	4860	HP:0004429	Recurrent viral infections
OMIM:613179	PNP	4860	HP:0002273	Tetraparesis
OMIM:613179	PNP	4860	HP:0000007	Autosomal recessive inheritance
OMIM:613179	PNP	4860	HP:0002665	Lymphoma
OMIM:613179	PNP	4860	HP:0005390	Recurrent opportunistic infections
OMIM:613179	PNP	4860	HP:0005435	Impaired T cell function
OMIM:613179	PNP	4860	HP:0000388	Otitis media
OMIM:613179	PNP	4860	HP:0002783	Recurrent lower respiratory tract infections
OMIM:613179	PNP	4860	HP:0003537	Hypouricemia
OMIM:613179	PNP	4860	HP:0000708	Behavioral abnormality
OMIM:613179	PNP	4860	HP:0000246	Sinusitis
OMIM:613179	PNP	4860	HP:0001508	Failure to thrive
OMIM:613179	PNP	4860	HP:0001973	Autoimmune thrombocytopenia
OMIM:613179	PNP	4860	HP:0001251	Ataxia
OMIM:613179	PNP	4860	HP:0002788	Recurrent upper respiratory tract infections
OMIM:613179	PNP	4860	HP:0001744	Splenomegaly
OMIM:613179	PNP	4860	HP:0001264	Spastic diplegia
OMIM:613179	PNP	4860	HP:0001888	Lymphopenia
OMIM:300834	RPGR	6103	HP:0000608	Macular degeneration
OMIM:300834	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:300834	RPGR	6103	HP:0001419	X-linked recessive inheritance
ORPHA:30925	AVP	551	HP:0001945	Fever
ORPHA:30925	AVP	551	HP:0001824	Weight loss
ORPHA:30925	AVP	551	HP:0001959	Polydipsia
ORPHA:30925	AVP	551	HP:0002013	Vomiting
ORPHA:30925	AVP	551	HP:0000737	Irritability
ORPHA:30925	AVP	551	HP:0000873	Diabetes insipidus
ORPHA:30925	AVP	551	HP:0001254	Lethargy
ORPHA:30925	AVP	551	HP:0001510	Growth delay
ORPHA:30925	AVP	551	HP:0002014	Diarrhea
ORPHA:281122	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHA:281122	ALOXE3	59344	HP:0001376	Limitation of joint mobility
ORPHA:281122	ALOX12B	242	HP:0008064	Ichthyosis
ORPHA:281122	ALOX12B	242	HP:0001376	Limitation of joint mobility
ORPHA:281122	TGM1	7051	HP:0008064	Ichthyosis
ORPHA:281122	TGM1	7051	HP:0001376	Limitation of joint mobility
ORPHA:90797	AR	367	HP:0000048	Bifid scrotum
ORPHA:90797	AR	367	HP:0000151	Aplasia of the uterus
ORPHA:90797	AR	367	HP:0010785	Gonadal neoplasm
ORPHA:90797	AR	367	HP:0000028	Cryptorchidism
ORPHA:90797	AR	367	HP:0000047	Hypospadias
ORPHA:90797	AR	367	HP:0000789	Infertility
ORPHA:90797	AR	367	HP:0010458	Female pseudohermaphroditism
ORPHA:90797	AR	367	HP:0000054	Micropenis
ORPHA:912	PEX19	5824	HP:0001622	Premature birth
ORPHA:912	PEX19	5824	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX19	5824	HP:0000286	Epicanthus
ORPHA:912	PEX19	5824	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX19	5824	HP:0001508	Failure to thrive
ORPHA:912	PEX19	5824	HP:0001399	Hepatic failure
ORPHA:912	PEX19	5824	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX19	5824	HP:0004322	Short stature
ORPHA:912	PEX19	5824	HP:0008572	External ear malformation
ORPHA:912	PEX19	5824	HP:0000256	Macrocephaly
ORPHA:912	PEX19	5824	HP:0002353	EEG abnormality
ORPHA:912	PEX19	5824	HP:0007957	Corneal opacity
ORPHA:912	PEX19	5824	HP:0000431	Wide nasal bridge
ORPHA:912	PEX19	5824	HP:0000348	High forehead
ORPHA:912	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX19	5824	HP:0002021	Pyloric stenosis
ORPHA:912	PEX19	5824	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX19	5824	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX19	5824	HP:0012736	Profound global developmental delay
ORPHA:912	PEX19	5824	HP:0000047	Hypospadias
ORPHA:912	PEX19	5824	HP:0001522	Death in infancy
ORPHA:912	PEX19	5824	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX19	5824	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX19	5824	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX19	5824	HP:0001250	Seizures
ORPHA:912	PEX19	5824	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX19	5824	HP:0000639	Nystagmus
ORPHA:912	PEX19	5824	HP:0000648	Optic atrophy
ORPHA:912	PEX19	5824	HP:0002024	Malabsorption
ORPHA:912	PEX19	5824	HP:0000218	High palate
ORPHA:912	PEX19	5824	HP:0005469	Flat occiput
ORPHA:912	PEX19	5824	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX19	5824	HP:0012368	Flat face
ORPHA:912	PEX19	5824	HP:0000505	Visual impairment
ORPHA:912	PEX19	5824	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX19	5824	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX19	5824	HP:0000126	Hydronephrosis
ORPHA:912	PEX19	5824	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX19	5824	HP:0000028	Cryptorchidism
ORPHA:912	PEX19	5824	HP:0002126	Polymicrogyria
ORPHA:912	PEX19	5824	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX19	5824	HP:0100543	Cognitive impairment
ORPHA:912	PEX19	5824	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX19	5824	HP:0000952	Jaundice
ORPHA:912	PEX19	5824	HP:0000518	Cataract
ORPHA:912	PEX19	5824	HP:0002240	Hepatomegaly
ORPHA:912	PEX19	5824	HP:0000347	Micrognathia
ORPHA:912	PEX19	5824	HP:0000252	Microcephaly
ORPHA:912	PEX16	9409	HP:0001622	Premature birth
ORPHA:912	PEX16	9409	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX16	9409	HP:0000286	Epicanthus
ORPHA:912	PEX16	9409	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX16	9409	HP:0001508	Failure to thrive
ORPHA:912	PEX16	9409	HP:0001399	Hepatic failure
ORPHA:912	PEX16	9409	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX16	9409	HP:0004322	Short stature
ORPHA:912	PEX16	9409	HP:0008572	External ear malformation
ORPHA:912	PEX16	9409	HP:0000256	Macrocephaly
ORPHA:912	PEX16	9409	HP:0002353	EEG abnormality
ORPHA:912	PEX16	9409	HP:0007957	Corneal opacity
ORPHA:912	PEX16	9409	HP:0000431	Wide nasal bridge
ORPHA:912	PEX16	9409	HP:0000348	High forehead
ORPHA:912	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX16	9409	HP:0002021	Pyloric stenosis
ORPHA:912	PEX16	9409	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX16	9409	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX16	9409	HP:0012736	Profound global developmental delay
ORPHA:912	PEX16	9409	HP:0000047	Hypospadias
ORPHA:912	PEX16	9409	HP:0001522	Death in infancy
ORPHA:912	PEX16	9409	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX16	9409	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX16	9409	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX16	9409	HP:0001250	Seizures
ORPHA:912	PEX16	9409	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX16	9409	HP:0000639	Nystagmus
ORPHA:912	PEX16	9409	HP:0000648	Optic atrophy
ORPHA:912	PEX16	9409	HP:0002024	Malabsorption
ORPHA:912	PEX16	9409	HP:0000218	High palate
ORPHA:912	PEX16	9409	HP:0005469	Flat occiput
ORPHA:912	PEX16	9409	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX16	9409	HP:0012368	Flat face
ORPHA:912	PEX16	9409	HP:0000505	Visual impairment
ORPHA:912	PEX16	9409	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX16	9409	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX16	9409	HP:0000126	Hydronephrosis
ORPHA:912	PEX16	9409	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX16	9409	HP:0000028	Cryptorchidism
ORPHA:912	PEX16	9409	HP:0002126	Polymicrogyria
ORPHA:912	PEX16	9409	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX16	9409	HP:0100543	Cognitive impairment
ORPHA:912	PEX16	9409	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX16	9409	HP:0000952	Jaundice
ORPHA:912	PEX16	9409	HP:0000518	Cataract
ORPHA:912	PEX16	9409	HP:0002240	Hepatomegaly
ORPHA:912	PEX16	9409	HP:0000347	Micrognathia
ORPHA:912	PEX16	9409	HP:0000252	Microcephaly
ORPHA:912	PEX2	5828	HP:0001622	Premature birth
ORPHA:912	PEX2	5828	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX2	5828	HP:0000286	Epicanthus
ORPHA:912	PEX2	5828	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX2	5828	HP:0001508	Failure to thrive
ORPHA:912	PEX2	5828	HP:0001399	Hepatic failure
ORPHA:912	PEX2	5828	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX2	5828	HP:0004322	Short stature
ORPHA:912	PEX2	5828	HP:0008572	External ear malformation
ORPHA:912	PEX2	5828	HP:0000256	Macrocephaly
ORPHA:912	PEX2	5828	HP:0002353	EEG abnormality
ORPHA:912	PEX2	5828	HP:0007957	Corneal opacity
ORPHA:912	PEX2	5828	HP:0000431	Wide nasal bridge
ORPHA:912	PEX2	5828	HP:0000348	High forehead
ORPHA:912	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX2	5828	HP:0002021	Pyloric stenosis
ORPHA:912	PEX2	5828	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX2	5828	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX2	5828	HP:0012736	Profound global developmental delay
ORPHA:912	PEX2	5828	HP:0000047	Hypospadias
ORPHA:912	PEX2	5828	HP:0001522	Death in infancy
ORPHA:912	PEX2	5828	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX2	5828	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX2	5828	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX2	5828	HP:0001250	Seizures
ORPHA:912	PEX2	5828	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX2	5828	HP:0000639	Nystagmus
ORPHA:912	PEX2	5828	HP:0000648	Optic atrophy
ORPHA:912	PEX2	5828	HP:0002024	Malabsorption
ORPHA:912	PEX2	5828	HP:0000218	High palate
ORPHA:912	PEX2	5828	HP:0005469	Flat occiput
ORPHA:912	PEX2	5828	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX2	5828	HP:0012368	Flat face
ORPHA:912	PEX2	5828	HP:0000505	Visual impairment
ORPHA:912	PEX2	5828	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX2	5828	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX2	5828	HP:0000126	Hydronephrosis
ORPHA:912	PEX2	5828	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX2	5828	HP:0000028	Cryptorchidism
ORPHA:912	PEX2	5828	HP:0002126	Polymicrogyria
ORPHA:912	PEX2	5828	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX2	5828	HP:0100543	Cognitive impairment
ORPHA:912	PEX2	5828	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX2	5828	HP:0000952	Jaundice
ORPHA:912	PEX2	5828	HP:0000518	Cataract
ORPHA:912	PEX2	5828	HP:0002240	Hepatomegaly
ORPHA:912	PEX2	5828	HP:0000347	Micrognathia
ORPHA:912	PEX2	5828	HP:0000252	Microcephaly
ORPHA:912	PEX1	5189	HP:0001622	Premature birth
ORPHA:912	PEX1	5189	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX1	5189	HP:0000286	Epicanthus
ORPHA:912	PEX1	5189	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX1	5189	HP:0001508	Failure to thrive
ORPHA:912	PEX1	5189	HP:0001399	Hepatic failure
ORPHA:912	PEX1	5189	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX1	5189	HP:0004322	Short stature
ORPHA:912	PEX1	5189	HP:0008572	External ear malformation
ORPHA:912	PEX1	5189	HP:0000256	Macrocephaly
ORPHA:912	PEX1	5189	HP:0002353	EEG abnormality
ORPHA:912	PEX1	5189	HP:0007957	Corneal opacity
ORPHA:912	PEX1	5189	HP:0000431	Wide nasal bridge
ORPHA:912	PEX1	5189	HP:0000348	High forehead
ORPHA:912	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX1	5189	HP:0002021	Pyloric stenosis
ORPHA:912	PEX1	5189	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX1	5189	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX1	5189	HP:0012736	Profound global developmental delay
ORPHA:912	PEX1	5189	HP:0000047	Hypospadias
ORPHA:912	PEX1	5189	HP:0001522	Death in infancy
ORPHA:912	PEX1	5189	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX1	5189	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX1	5189	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX1	5189	HP:0001250	Seizures
ORPHA:912	PEX1	5189	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX1	5189	HP:0000639	Nystagmus
ORPHA:912	PEX1	5189	HP:0000648	Optic atrophy
ORPHA:912	PEX1	5189	HP:0002024	Malabsorption
ORPHA:912	PEX1	5189	HP:0000218	High palate
ORPHA:912	PEX1	5189	HP:0005469	Flat occiput
ORPHA:912	PEX1	5189	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX1	5189	HP:0012368	Flat face
ORPHA:912	PEX1	5189	HP:0000505	Visual impairment
ORPHA:912	PEX1	5189	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX1	5189	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX1	5189	HP:0000126	Hydronephrosis
ORPHA:912	PEX1	5189	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX1	5189	HP:0000028	Cryptorchidism
ORPHA:912	PEX1	5189	HP:0002126	Polymicrogyria
ORPHA:912	PEX1	5189	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX1	5189	HP:0100543	Cognitive impairment
ORPHA:912	PEX1	5189	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX1	5189	HP:0000952	Jaundice
ORPHA:912	PEX1	5189	HP:0000518	Cataract
ORPHA:912	PEX1	5189	HP:0002240	Hepatomegaly
ORPHA:912	PEX1	5189	HP:0000347	Micrognathia
ORPHA:912	PEX1	5189	HP:0000252	Microcephaly
ORPHA:912	PEX5	5830	HP:0001622	Premature birth
ORPHA:912	PEX5	5830	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX5	5830	HP:0000286	Epicanthus
ORPHA:912	PEX5	5830	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX5	5830	HP:0001508	Failure to thrive
ORPHA:912	PEX5	5830	HP:0001399	Hepatic failure
ORPHA:912	PEX5	5830	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX5	5830	HP:0004322	Short stature
ORPHA:912	PEX5	5830	HP:0008572	External ear malformation
ORPHA:912	PEX5	5830	HP:0000256	Macrocephaly
ORPHA:912	PEX5	5830	HP:0002353	EEG abnormality
ORPHA:912	PEX5	5830	HP:0007957	Corneal opacity
ORPHA:912	PEX5	5830	HP:0000431	Wide nasal bridge
ORPHA:912	PEX5	5830	HP:0000348	High forehead
ORPHA:912	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX5	5830	HP:0002021	Pyloric stenosis
ORPHA:912	PEX5	5830	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX5	5830	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX5	5830	HP:0012736	Profound global developmental delay
ORPHA:912	PEX5	5830	HP:0000047	Hypospadias
ORPHA:912	PEX5	5830	HP:0001522	Death in infancy
ORPHA:912	PEX5	5830	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX5	5830	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX5	5830	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX5	5830	HP:0001250	Seizures
ORPHA:912	PEX5	5830	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX5	5830	HP:0000639	Nystagmus
ORPHA:912	PEX5	5830	HP:0000648	Optic atrophy
ORPHA:912	PEX5	5830	HP:0002024	Malabsorption
ORPHA:912	PEX5	5830	HP:0000218	High palate
ORPHA:912	PEX5	5830	HP:0005469	Flat occiput
ORPHA:912	PEX5	5830	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX5	5830	HP:0012368	Flat face
ORPHA:912	PEX5	5830	HP:0000505	Visual impairment
ORPHA:912	PEX5	5830	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX5	5830	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX5	5830	HP:0000126	Hydronephrosis
ORPHA:912	PEX5	5830	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX5	5830	HP:0000028	Cryptorchidism
ORPHA:912	PEX5	5830	HP:0002126	Polymicrogyria
ORPHA:912	PEX5	5830	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX5	5830	HP:0100543	Cognitive impairment
ORPHA:912	PEX5	5830	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX5	5830	HP:0000952	Jaundice
ORPHA:912	PEX5	5830	HP:0000518	Cataract
ORPHA:912	PEX5	5830	HP:0002240	Hepatomegaly
ORPHA:912	PEX5	5830	HP:0000347	Micrognathia
ORPHA:912	PEX5	5830	HP:0000252	Microcephaly
ORPHA:912	PEX6	5190	HP:0001622	Premature birth
ORPHA:912	PEX6	5190	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX6	5190	HP:0000286	Epicanthus
ORPHA:912	PEX6	5190	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX6	5190	HP:0001508	Failure to thrive
ORPHA:912	PEX6	5190	HP:0001399	Hepatic failure
ORPHA:912	PEX6	5190	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX6	5190	HP:0004322	Short stature
ORPHA:912	PEX6	5190	HP:0008572	External ear malformation
ORPHA:912	PEX6	5190	HP:0000256	Macrocephaly
ORPHA:912	PEX6	5190	HP:0002353	EEG abnormality
ORPHA:912	PEX6	5190	HP:0007957	Corneal opacity
ORPHA:912	PEX6	5190	HP:0000431	Wide nasal bridge
ORPHA:912	PEX6	5190	HP:0000348	High forehead
ORPHA:912	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX6	5190	HP:0002021	Pyloric stenosis
ORPHA:912	PEX6	5190	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX6	5190	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX6	5190	HP:0012736	Profound global developmental delay
ORPHA:912	PEX6	5190	HP:0000047	Hypospadias
ORPHA:912	PEX6	5190	HP:0001522	Death in infancy
ORPHA:912	PEX6	5190	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX6	5190	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX6	5190	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX6	5190	HP:0001250	Seizures
ORPHA:912	PEX6	5190	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX6	5190	HP:0000639	Nystagmus
ORPHA:912	PEX6	5190	HP:0000648	Optic atrophy
ORPHA:912	PEX6	5190	HP:0002024	Malabsorption
ORPHA:912	PEX6	5190	HP:0000218	High palate
ORPHA:912	PEX6	5190	HP:0005469	Flat occiput
ORPHA:912	PEX6	5190	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX6	5190	HP:0012368	Flat face
ORPHA:912	PEX6	5190	HP:0000505	Visual impairment
ORPHA:912	PEX6	5190	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX6	5190	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX6	5190	HP:0000126	Hydronephrosis
ORPHA:912	PEX6	5190	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX6	5190	HP:0000028	Cryptorchidism
ORPHA:912	PEX6	5190	HP:0002126	Polymicrogyria
ORPHA:912	PEX6	5190	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX6	5190	HP:0100543	Cognitive impairment
ORPHA:912	PEX6	5190	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX6	5190	HP:0000952	Jaundice
ORPHA:912	PEX6	5190	HP:0000518	Cataract
ORPHA:912	PEX6	5190	HP:0002240	Hepatomegaly
ORPHA:912	PEX6	5190	HP:0000347	Micrognathia
ORPHA:912	PEX6	5190	HP:0000252	Microcephaly
ORPHA:912	PEX10	5192	HP:0001622	Premature birth
ORPHA:912	PEX10	5192	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX10	5192	HP:0000286	Epicanthus
ORPHA:912	PEX10	5192	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX10	5192	HP:0001508	Failure to thrive
ORPHA:912	PEX10	5192	HP:0001399	Hepatic failure
ORPHA:912	PEX10	5192	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX10	5192	HP:0004322	Short stature
ORPHA:912	PEX10	5192	HP:0008572	External ear malformation
ORPHA:912	PEX10	5192	HP:0000256	Macrocephaly
ORPHA:912	PEX10	5192	HP:0002353	EEG abnormality
ORPHA:912	PEX10	5192	HP:0007957	Corneal opacity
ORPHA:912	PEX10	5192	HP:0000431	Wide nasal bridge
ORPHA:912	PEX10	5192	HP:0000348	High forehead
ORPHA:912	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX10	5192	HP:0002021	Pyloric stenosis
ORPHA:912	PEX10	5192	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX10	5192	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX10	5192	HP:0012736	Profound global developmental delay
ORPHA:912	PEX10	5192	HP:0000047	Hypospadias
ORPHA:912	PEX10	5192	HP:0001522	Death in infancy
ORPHA:912	PEX10	5192	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX10	5192	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX10	5192	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX10	5192	HP:0001250	Seizures
ORPHA:912	PEX10	5192	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX10	5192	HP:0000639	Nystagmus
ORPHA:912	PEX10	5192	HP:0000648	Optic atrophy
ORPHA:912	PEX10	5192	HP:0002024	Malabsorption
ORPHA:912	PEX10	5192	HP:0000218	High palate
ORPHA:912	PEX10	5192	HP:0005469	Flat occiput
ORPHA:912	PEX10	5192	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX10	5192	HP:0012368	Flat face
ORPHA:912	PEX10	5192	HP:0000505	Visual impairment
ORPHA:912	PEX10	5192	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX10	5192	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX10	5192	HP:0000126	Hydronephrosis
ORPHA:912	PEX10	5192	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX10	5192	HP:0000028	Cryptorchidism
ORPHA:912	PEX10	5192	HP:0002126	Polymicrogyria
ORPHA:912	PEX10	5192	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX10	5192	HP:0100543	Cognitive impairment
ORPHA:912	PEX10	5192	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX10	5192	HP:0000952	Jaundice
ORPHA:912	PEX10	5192	HP:0000518	Cataract
ORPHA:912	PEX10	5192	HP:0002240	Hepatomegaly
ORPHA:912	PEX10	5192	HP:0000347	Micrognathia
ORPHA:912	PEX10	5192	HP:0000252	Microcephaly
ORPHA:912	PEX12	5193	HP:0001622	Premature birth
ORPHA:912	PEX12	5193	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX12	5193	HP:0000286	Epicanthus
ORPHA:912	PEX12	5193	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX12	5193	HP:0001508	Failure to thrive
ORPHA:912	PEX12	5193	HP:0001399	Hepatic failure
ORPHA:912	PEX12	5193	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX12	5193	HP:0004322	Short stature
ORPHA:912	PEX12	5193	HP:0008572	External ear malformation
ORPHA:912	PEX12	5193	HP:0000256	Macrocephaly
ORPHA:912	PEX12	5193	HP:0002353	EEG abnormality
ORPHA:912	PEX12	5193	HP:0007957	Corneal opacity
ORPHA:912	PEX12	5193	HP:0000431	Wide nasal bridge
ORPHA:912	PEX12	5193	HP:0000348	High forehead
ORPHA:912	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX12	5193	HP:0002021	Pyloric stenosis
ORPHA:912	PEX12	5193	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX12	5193	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX12	5193	HP:0012736	Profound global developmental delay
ORPHA:912	PEX12	5193	HP:0000047	Hypospadias
ORPHA:912	PEX12	5193	HP:0001522	Death in infancy
ORPHA:912	PEX12	5193	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX12	5193	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX12	5193	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX12	5193	HP:0001250	Seizures
ORPHA:912	PEX12	5193	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX12	5193	HP:0000639	Nystagmus
ORPHA:912	PEX12	5193	HP:0000648	Optic atrophy
ORPHA:912	PEX12	5193	HP:0002024	Malabsorption
ORPHA:912	PEX12	5193	HP:0000218	High palate
ORPHA:912	PEX12	5193	HP:0005469	Flat occiput
ORPHA:912	PEX12	5193	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX12	5193	HP:0012368	Flat face
ORPHA:912	PEX12	5193	HP:0000505	Visual impairment
ORPHA:912	PEX12	5193	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX12	5193	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX12	5193	HP:0000126	Hydronephrosis
ORPHA:912	PEX12	5193	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX12	5193	HP:0000028	Cryptorchidism
ORPHA:912	PEX12	5193	HP:0002126	Polymicrogyria
ORPHA:912	PEX12	5193	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX12	5193	HP:0100543	Cognitive impairment
ORPHA:912	PEX12	5193	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX12	5193	HP:0000952	Jaundice
ORPHA:912	PEX12	5193	HP:0000518	Cataract
ORPHA:912	PEX12	5193	HP:0002240	Hepatomegaly
ORPHA:912	PEX12	5193	HP:0000347	Micrognathia
ORPHA:912	PEX12	5193	HP:0000252	Microcephaly
ORPHA:912	PEX13	5194	HP:0001622	Premature birth
ORPHA:912	PEX13	5194	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX13	5194	HP:0000286	Epicanthus
ORPHA:912	PEX13	5194	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX13	5194	HP:0001508	Failure to thrive
ORPHA:912	PEX13	5194	HP:0001399	Hepatic failure
ORPHA:912	PEX13	5194	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX13	5194	HP:0004322	Short stature
ORPHA:912	PEX13	5194	HP:0008572	External ear malformation
ORPHA:912	PEX13	5194	HP:0000256	Macrocephaly
ORPHA:912	PEX13	5194	HP:0002353	EEG abnormality
ORPHA:912	PEX13	5194	HP:0007957	Corneal opacity
ORPHA:912	PEX13	5194	HP:0000431	Wide nasal bridge
ORPHA:912	PEX13	5194	HP:0000348	High forehead
ORPHA:912	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX13	5194	HP:0002021	Pyloric stenosis
ORPHA:912	PEX13	5194	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX13	5194	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX13	5194	HP:0012736	Profound global developmental delay
ORPHA:912	PEX13	5194	HP:0000047	Hypospadias
ORPHA:912	PEX13	5194	HP:0001522	Death in infancy
ORPHA:912	PEX13	5194	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX13	5194	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX13	5194	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX13	5194	HP:0001250	Seizures
ORPHA:912	PEX13	5194	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX13	5194	HP:0000639	Nystagmus
ORPHA:912	PEX13	5194	HP:0000648	Optic atrophy
ORPHA:912	PEX13	5194	HP:0002024	Malabsorption
ORPHA:912	PEX13	5194	HP:0000218	High palate
ORPHA:912	PEX13	5194	HP:0005469	Flat occiput
ORPHA:912	PEX13	5194	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX13	5194	HP:0012368	Flat face
ORPHA:912	PEX13	5194	HP:0000505	Visual impairment
ORPHA:912	PEX13	5194	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX13	5194	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX13	5194	HP:0000126	Hydronephrosis
ORPHA:912	PEX13	5194	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX13	5194	HP:0000028	Cryptorchidism
ORPHA:912	PEX13	5194	HP:0002126	Polymicrogyria
ORPHA:912	PEX13	5194	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX13	5194	HP:0100543	Cognitive impairment
ORPHA:912	PEX13	5194	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX13	5194	HP:0000952	Jaundice
ORPHA:912	PEX13	5194	HP:0000518	Cataract
ORPHA:912	PEX13	5194	HP:0002240	Hepatomegaly
ORPHA:912	PEX13	5194	HP:0000347	Micrognathia
ORPHA:912	PEX13	5194	HP:0000252	Microcephaly
ORPHA:912	PEX14	5195	HP:0001622	Premature birth
ORPHA:912	PEX14	5195	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX14	5195	HP:0000286	Epicanthus
ORPHA:912	PEX14	5195	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX14	5195	HP:0001508	Failure to thrive
ORPHA:912	PEX14	5195	HP:0001399	Hepatic failure
ORPHA:912	PEX14	5195	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX14	5195	HP:0004322	Short stature
ORPHA:912	PEX14	5195	HP:0008572	External ear malformation
ORPHA:912	PEX14	5195	HP:0000256	Macrocephaly
ORPHA:912	PEX14	5195	HP:0002353	EEG abnormality
ORPHA:912	PEX14	5195	HP:0007957	Corneal opacity
ORPHA:912	PEX14	5195	HP:0000431	Wide nasal bridge
ORPHA:912	PEX14	5195	HP:0000348	High forehead
ORPHA:912	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX14	5195	HP:0002021	Pyloric stenosis
ORPHA:912	PEX14	5195	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX14	5195	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX14	5195	HP:0012736	Profound global developmental delay
ORPHA:912	PEX14	5195	HP:0000047	Hypospadias
ORPHA:912	PEX14	5195	HP:0001522	Death in infancy
ORPHA:912	PEX14	5195	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX14	5195	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX14	5195	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX14	5195	HP:0001250	Seizures
ORPHA:912	PEX14	5195	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX14	5195	HP:0000639	Nystagmus
ORPHA:912	PEX14	5195	HP:0000648	Optic atrophy
ORPHA:912	PEX14	5195	HP:0002024	Malabsorption
ORPHA:912	PEX14	5195	HP:0000218	High palate
ORPHA:912	PEX14	5195	HP:0005469	Flat occiput
ORPHA:912	PEX14	5195	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX14	5195	HP:0012368	Flat face
ORPHA:912	PEX14	5195	HP:0000505	Visual impairment
ORPHA:912	PEX14	5195	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX14	5195	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX14	5195	HP:0000126	Hydronephrosis
ORPHA:912	PEX14	5195	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX14	5195	HP:0000028	Cryptorchidism
ORPHA:912	PEX14	5195	HP:0002126	Polymicrogyria
ORPHA:912	PEX14	5195	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX14	5195	HP:0100543	Cognitive impairment
ORPHA:912	PEX14	5195	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX14	5195	HP:0000952	Jaundice
ORPHA:912	PEX14	5195	HP:0000518	Cataract
ORPHA:912	PEX14	5195	HP:0002240	Hepatomegaly
ORPHA:912	PEX14	5195	HP:0000347	Micrognathia
ORPHA:912	PEX14	5195	HP:0000252	Microcephaly
ORPHA:912	PEX26	55670	HP:0001622	Premature birth
ORPHA:912	PEX26	55670	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX26	55670	HP:0000286	Epicanthus
ORPHA:912	PEX26	55670	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX26	55670	HP:0001508	Failure to thrive
ORPHA:912	PEX26	55670	HP:0001399	Hepatic failure
ORPHA:912	PEX26	55670	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX26	55670	HP:0004322	Short stature
ORPHA:912	PEX26	55670	HP:0008572	External ear malformation
ORPHA:912	PEX26	55670	HP:0000256	Macrocephaly
ORPHA:912	PEX26	55670	HP:0002353	EEG abnormality
ORPHA:912	PEX26	55670	HP:0007957	Corneal opacity
ORPHA:912	PEX26	55670	HP:0000431	Wide nasal bridge
ORPHA:912	PEX26	55670	HP:0000348	High forehead
ORPHA:912	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX26	55670	HP:0002021	Pyloric stenosis
ORPHA:912	PEX26	55670	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX26	55670	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX26	55670	HP:0012736	Profound global developmental delay
ORPHA:912	PEX26	55670	HP:0000047	Hypospadias
ORPHA:912	PEX26	55670	HP:0001522	Death in infancy
ORPHA:912	PEX26	55670	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX26	55670	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX26	55670	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX26	55670	HP:0001250	Seizures
ORPHA:912	PEX26	55670	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX26	55670	HP:0000639	Nystagmus
ORPHA:912	PEX26	55670	HP:0000648	Optic atrophy
ORPHA:912	PEX26	55670	HP:0002024	Malabsorption
ORPHA:912	PEX26	55670	HP:0000218	High palate
ORPHA:912	PEX26	55670	HP:0005469	Flat occiput
ORPHA:912	PEX26	55670	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX26	55670	HP:0012368	Flat face
ORPHA:912	PEX26	55670	HP:0000505	Visual impairment
ORPHA:912	PEX26	55670	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX26	55670	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX26	55670	HP:0000126	Hydronephrosis
ORPHA:912	PEX26	55670	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX26	55670	HP:0000028	Cryptorchidism
ORPHA:912	PEX26	55670	HP:0002126	Polymicrogyria
ORPHA:912	PEX26	55670	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX26	55670	HP:0100543	Cognitive impairment
ORPHA:912	PEX26	55670	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX26	55670	HP:0000952	Jaundice
ORPHA:912	PEX26	55670	HP:0000518	Cataract
ORPHA:912	PEX26	55670	HP:0002240	Hepatomegaly
ORPHA:912	PEX26	55670	HP:0000347	Micrognathia
ORPHA:912	PEX26	55670	HP:0000252	Microcephaly
ORPHA:912	PEX3	8504	HP:0001622	Premature birth
ORPHA:912	PEX3	8504	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX3	8504	HP:0000286	Epicanthus
ORPHA:912	PEX3	8504	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX3	8504	HP:0001508	Failure to thrive
ORPHA:912	PEX3	8504	HP:0001399	Hepatic failure
ORPHA:912	PEX3	8504	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX3	8504	HP:0004322	Short stature
ORPHA:912	PEX3	8504	HP:0008572	External ear malformation
ORPHA:912	PEX3	8504	HP:0000256	Macrocephaly
ORPHA:912	PEX3	8504	HP:0002353	EEG abnormality
ORPHA:912	PEX3	8504	HP:0007957	Corneal opacity
ORPHA:912	PEX3	8504	HP:0000431	Wide nasal bridge
ORPHA:912	PEX3	8504	HP:0000348	High forehead
ORPHA:912	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX3	8504	HP:0002021	Pyloric stenosis
ORPHA:912	PEX3	8504	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX3	8504	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX3	8504	HP:0012736	Profound global developmental delay
ORPHA:912	PEX3	8504	HP:0000047	Hypospadias
ORPHA:912	PEX3	8504	HP:0001522	Death in infancy
ORPHA:912	PEX3	8504	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX3	8504	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX3	8504	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX3	8504	HP:0001250	Seizures
ORPHA:912	PEX3	8504	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX3	8504	HP:0000639	Nystagmus
ORPHA:912	PEX3	8504	HP:0000648	Optic atrophy
ORPHA:912	PEX3	8504	HP:0002024	Malabsorption
ORPHA:912	PEX3	8504	HP:0000218	High palate
ORPHA:912	PEX3	8504	HP:0005469	Flat occiput
ORPHA:912	PEX3	8504	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX3	8504	HP:0012368	Flat face
ORPHA:912	PEX3	8504	HP:0000505	Visual impairment
ORPHA:912	PEX3	8504	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX3	8504	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX3	8504	HP:0000126	Hydronephrosis
ORPHA:912	PEX3	8504	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX3	8504	HP:0000028	Cryptorchidism
ORPHA:912	PEX3	8504	HP:0002126	Polymicrogyria
ORPHA:912	PEX3	8504	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX3	8504	HP:0100543	Cognitive impairment
ORPHA:912	PEX3	8504	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX3	8504	HP:0000952	Jaundice
ORPHA:912	PEX3	8504	HP:0000518	Cataract
ORPHA:912	PEX3	8504	HP:0002240	Hepatomegaly
ORPHA:912	PEX3	8504	HP:0000347	Micrognathia
ORPHA:912	PEX3	8504	HP:0000252	Microcephaly
ORPHA:912	PEX11B	8799	HP:0001622	Premature birth
ORPHA:912	PEX11B	8799	HP:0002093	Respiratory insufficiency
ORPHA:912	PEX11B	8799	HP:0000286	Epicanthus
ORPHA:912	PEX11B	8799	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:912	PEX11B	8799	HP:0001508	Failure to thrive
ORPHA:912	PEX11B	8799	HP:0001399	Hepatic failure
ORPHA:912	PEX11B	8799	HP:0005280	Depressed nasal bridge
ORPHA:912	PEX11B	8799	HP:0004322	Short stature
ORPHA:912	PEX11B	8799	HP:0008572	External ear malformation
ORPHA:912	PEX11B	8799	HP:0000256	Macrocephaly
ORPHA:912	PEX11B	8799	HP:0002353	EEG abnormality
ORPHA:912	PEX11B	8799	HP:0007957	Corneal opacity
ORPHA:912	PEX11B	8799	HP:0000431	Wide nasal bridge
ORPHA:912	PEX11B	8799	HP:0000348	High forehead
ORPHA:912	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHA:912	PEX11B	8799	HP:0002021	Pyloric stenosis
ORPHA:912	PEX11B	8799	HP:0002652	Skeletal dysplasia
ORPHA:912	PEX11B	8799	HP:0000532	Chorioretinal abnormality
ORPHA:912	PEX11B	8799	HP:0012736	Profound global developmental delay
ORPHA:912	PEX11B	8799	HP:0000047	Hypospadias
ORPHA:912	PEX11B	8799	HP:0001522	Death in infancy
ORPHA:912	PEX11B	8799	HP:0000260	Wide anterior fontanel
ORPHA:912	PEX11B	8799	HP:0000627	Posterior embryotoxon
ORPHA:912	PEX11B	8799	HP:0000582	Upslanted palpebral fissure
ORPHA:912	PEX11B	8799	HP:0001250	Seizures
ORPHA:912	PEX11B	8799	HP:0001315	Reduced tendon reflexes
ORPHA:912	PEX11B	8799	HP:0000639	Nystagmus
ORPHA:912	PEX11B	8799	HP:0000648	Optic atrophy
ORPHA:912	PEX11B	8799	HP:0002024	Malabsorption
ORPHA:912	PEX11B	8799	HP:0000218	High palate
ORPHA:912	PEX11B	8799	HP:0005469	Flat occiput
ORPHA:912	PEX11B	8799	HP:0008665	Clitoral hypertrophy
ORPHA:912	PEX11B	8799	HP:0012368	Flat face
ORPHA:912	PEX11B	8799	HP:0000505	Visual impairment
ORPHA:912	PEX11B	8799	HP:0010655	Epiphyseal stippling
ORPHA:912	PEX11B	8799	HP:0008167	Very long chain fatty acid accumulation
ORPHA:912	PEX11B	8799	HP:0000126	Hydronephrosis
ORPHA:912	PEX11B	8799	HP:0006829	Severe muscular hypotonia
ORPHA:912	PEX11B	8799	HP:0000028	Cryptorchidism
ORPHA:912	PEX11B	8799	HP:0002126	Polymicrogyria
ORPHA:912	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
ORPHA:912	PEX11B	8799	HP:0100543	Cognitive impairment
ORPHA:912	PEX11B	8799	HP:0000003	Multicystic kidney dysplasia
ORPHA:912	PEX11B	8799	HP:0000952	Jaundice
ORPHA:912	PEX11B	8799	HP:0000518	Cataract
ORPHA:912	PEX11B	8799	HP:0002240	Hepatomegaly
ORPHA:912	PEX11B	8799	HP:0000347	Micrognathia
ORPHA:912	PEX11B	8799	HP:0000252	Microcephaly
OMIM:600802	JAK3	3718	HP:0003139	Panhypogammaglobulinemia
OMIM:600802	JAK3	3718	HP:0000007	Autosomal recessive inheritance
OMIM:600802	JAK3	3718	HP:0001508	Failure to thrive
OMIM:600802	JAK3	3718	HP:0002090	Pneumonia
OMIM:600802	JAK3	3718	HP:0002965	Cutaneous anergy
OMIM:600802	JAK3	3718	HP:0004430	Severe combined immunodeficiency
OMIM:600802	JAK3	3718	HP:0002014	Diarrhea
OMIM:600802	JAK3	3718	HP:0002788	Recurrent upper respiratory tract infections
OMIM:600802	JAK3	3718	HP:0005214	Intestinal obstruction
OMIM:600802	JAK3	3718	HP:0001287	Meningitis
OMIM:600802	JAK3	3718	HP:0002733	Abnormality of the lymph nodes
ORPHA:125	BLM	641	HP:0003220	Abnormality of chromosome stability
ORPHA:125	BLM	641	HP:0000268	Dolichocephaly
ORPHA:125	BLM	641	HP:0005598	Facial telangiectasia in butterfly midface distribution
ORPHA:125	BLM	641	HP:0008897	Postnatal growth retardation
ORPHA:125	BLM	641	HP:0000246	Sinusitis
ORPHA:125	BLM	641	HP:0005585	Spotty hyperpigmentation
ORPHA:125	BLM	641	HP:0001620	High pitched voice
ORPHA:125	BLM	641	HP:0002205	Recurrent respiratory infections
ORPHA:125	BLM	641	HP:0002014	Diarrhea
ORPHA:125	BLM	641	HP:0000272	Malar flattening
ORPHA:125	BLM	641	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:125	BLM	641	HP:0010783	Erythema
ORPHA:125	BLM	641	HP:0003196	Short nose
ORPHA:125	BLM	641	HP:0000992	Cutaneous photosensitivity
ORPHA:125	BLM	641	HP:0001511	Intrauterine growth retardation
ORPHA:125	BLM	641	HP:0002750	Delayed skeletal maturation
ORPHA:125	BLM	641	HP:0000275	Narrow face
ORPHA:125	BLM	641	HP:0004322	Short stature
ORPHA:218	ATP2A2	488	HP:0000989	Pruritus
ORPHA:218	ATP2A2	488	HP:0005212	Anal mucosal leukoplakia
ORPHA:218	ATP2A2	488	HP:0010612	Plantar pits
ORPHA:218	ATP2A2	488	HP:0000982	Palmoplantar keratoderma
ORPHA:218	ATP2A2	488	HP:0200016	Acrokeratosis
ORPHA:218	ATP2A2	488	HP:0001034	Hypermelanotic macule
ORPHA:218	ATP2A2	488	HP:0008410	Subungual hyperkeratotic fragments
ORPHA:218	ATP2A2	488	HP:0001595	Abnormality of the hair
OMIM:614192	RNF135	84282	HP:0000006	Autosomal dominant inheritance
OMIM:614192	RNF135	84282	HP:0000219	Thin upper lip vermilion
OMIM:614192	RNF135	84282	HP:0000455	Broad nasal tip
OMIM:614192	RNF135	84282	HP:0000494	Downslanted palpebral fissures
OMIM:614192	RNF135	84282	HP:0000256	Macrocephaly
OMIM:614192	RNF135	84282	HP:0000337	Broad forehead
OMIM:614192	RNF135	84282	HP:0000343	Long philtrum
OMIM:614192	RNF135	84282	HP:0001999	Abnormal facial shape
ORPHA:1451	NLRC4	58484	HP:0002076	Migraine
ORPHA:1451	NLRC4	58484	HP:0002516	Increased intracranial pressure
ORPHA:1451	NLRC4	58484	HP:0002716	Lymphadenopathy
ORPHA:1451	NLRC4	58484	HP:0001874	Abnormality of neutrophils
ORPHA:1451	NLRC4	58484	HP:0002007	Frontal bossing
ORPHA:1451	NLRC4	58484	HP:0001903	Anemia
ORPHA:1451	NLRC4	58484	HP:0002652	Skeletal dysplasia
ORPHA:1451	NLRC4	58484	HP:0000538	Pseudopapilledema
ORPHA:1451	NLRC4	58484	HP:0001872	Abnormality of thrombocytes
ORPHA:1451	NLRC4	58484	HP:0001025	Urticaria
ORPHA:1451	NLRC4	58484	HP:0002017	Nausea and vomiting
ORPHA:1451	NLRC4	58484	HP:0001744	Splenomegaly
ORPHA:1451	NLRC4	58484	HP:0012378	Fatigue
ORPHA:1451	NLRC4	58484	HP:0001156	Brachydactyly
ORPHA:1451	NLRC4	58484	HP:0200034	Papule
ORPHA:1451	NLRC4	58484	HP:0002240	Hepatomegaly
ORPHA:1451	NLRC4	58484	HP:0011227	Elevated C-reactive protein level
ORPHA:1451	NLRC4	58484	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:1451	NLRC4	58484	HP:0000520	Proptosis
ORPHA:1451	NLRC4	58484	HP:0000969	Edema
ORPHA:1451	NLRC4	58484	HP:0003326	Myalgia
ORPHA:1451	NLRC4	58484	HP:0000256	Macrocephaly
ORPHA:1451	NLRC4	58484	HP:0001974	Leukocytosis
ORPHA:1451	NLRC4	58484	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:1451	NLRC4	58484	HP:0000407	Sensorineural hearing impairment
ORPHA:1451	NLRC4	58484	HP:0001945	Fever
ORPHA:1451	NLRC4	58484	HP:0001287	Meningitis
ORPHA:1451	NLRC4	58484	HP:0002829	Arthralgia
ORPHA:1451	NLRC4	58484	HP:0001373	Joint dislocation
ORPHA:1451	NLRC4	58484	HP:0000554	Uveitis
ORPHA:1451	NLRP3	114548	HP:0002076	Migraine
ORPHA:1451	NLRP3	114548	HP:0002516	Increased intracranial pressure
ORPHA:1451	NLRP3	114548	HP:0002716	Lymphadenopathy
ORPHA:1451	NLRP3	114548	HP:0001874	Abnormality of neutrophils
ORPHA:1451	NLRP3	114548	HP:0002007	Frontal bossing
ORPHA:1451	NLRP3	114548	HP:0001903	Anemia
ORPHA:1451	NLRP3	114548	HP:0002652	Skeletal dysplasia
ORPHA:1451	NLRP3	114548	HP:0000538	Pseudopapilledema
ORPHA:1451	NLRP3	114548	HP:0001872	Abnormality of thrombocytes
ORPHA:1451	NLRP3	114548	HP:0001025	Urticaria
ORPHA:1451	NLRP3	114548	HP:0002017	Nausea and vomiting
ORPHA:1451	NLRP3	114548	HP:0001744	Splenomegaly
ORPHA:1451	NLRP3	114548	HP:0012378	Fatigue
ORPHA:1451	NLRP3	114548	HP:0001156	Brachydactyly
ORPHA:1451	NLRP3	114548	HP:0200034	Papule
ORPHA:1451	NLRP3	114548	HP:0002240	Hepatomegaly
ORPHA:1451	NLRP3	114548	HP:0011227	Elevated C-reactive protein level
ORPHA:1451	NLRP3	114548	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:1451	NLRP3	114548	HP:0000520	Proptosis
ORPHA:1451	NLRP3	114548	HP:0000969	Edema
ORPHA:1451	NLRP3	114548	HP:0003326	Myalgia
ORPHA:1451	NLRP3	114548	HP:0000256	Macrocephaly
ORPHA:1451	NLRP3	114548	HP:0001974	Leukocytosis
ORPHA:1451	NLRP3	114548	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:1451	NLRP3	114548	HP:0000407	Sensorineural hearing impairment
ORPHA:1451	NLRP3	114548	HP:0001945	Fever
ORPHA:1451	NLRP3	114548	HP:0001287	Meningitis
ORPHA:1451	NLRP3	114548	HP:0002829	Arthralgia
ORPHA:1451	NLRP3	114548	HP:0001373	Joint dislocation
ORPHA:1451	NLRP3	114548	HP:0000554	Uveitis
OMIM:617014	CSF3R	1441	HP:0000007	Autosomal recessive inheritance
OMIM:617014	CSF3R	1441	HP:0002719	Recurrent infections
OMIM:617014	CSF3R	1441	HP:0001875	Neutropenia
OMIM:143200	VCAN	1462	HP:0000572	Visual loss
OMIM:143200	VCAN	1462	HP:0007722	Retinal pigment epithelial atrophy
OMIM:143200	VCAN	1462	HP:0000006	Autosomal dominant inheritance
OMIM:143200	VCAN	1462	HP:0000545	Myopia
OMIM:143200	VCAN	1462	HP:0000501	Glaucoma
OMIM:143200	VCAN	1462	HP:0000655	Vitreoretinal degeneration
OMIM:143200	VCAN	1462	HP:0000518	Cataract
OMIM:143200	VCAN	1462	HP:0007643	Peripheral traction retinal detachment
OMIM:143200	VCAN	1462	HP:0030663	Optically empty vitreous
OMIM:143200	VCAN	1462	HP:0000648	Optic atrophy
OMIM:143200	VCAN	1462	HP:0001123	Visual field defect
OMIM:143200	VCAN	1462	HP:0000533	Chorioretinal atrophy
OMIM:615109	AKT1	207	HP:0000854	Thyroid adenoma
OMIM:615109	AKT1	207	HP:0000365	Hearing impairment
OMIM:615109	AKT1	207	HP:0000347	Micrognathia
OMIM:615109	AKT1	207	HP:0001031	Subcutaneous lipoma
OMIM:615109	AKT1	207	HP:0000218	High palate
OMIM:615109	AKT1	207	HP:0002253	Colonic diverticula
OMIM:615109	AKT1	207	HP:0003002	Breast carcinoma
OMIM:615109	AKT1	207	HP:0002858	Meningioma
OMIM:615109	AKT1	207	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:615109	AKT1	207	HP:0100646	Thyroiditis
OMIM:615109	AKT1	207	HP:0000518	Cataract
OMIM:615109	AKT1	207	HP:0000972	Palmoplantar hyperkeratosis
OMIM:615109	AKT1	207	HP:0004390	Hamartomatous polyposis
OMIM:615109	AKT1	207	HP:0003581	Adult onset
OMIM:615109	AKT1	207	HP:0004481	Progressive macrocephaly
OMIM:615109	AKT1	207	HP:0000767	Pectus excavatum
OMIM:615109	AKT1	207	HP:0002080	Intention tremor
OMIM:615109	AKT1	207	HP:0000836	Hyperthyroidism
OMIM:615109	AKT1	207	HP:0000821	Hypothyroidism
OMIM:615109	AKT1	207	HP:0010619	Fibroadenoma of the breast
OMIM:615109	AKT1	207	HP:0000221	Furrowed tongue
OMIM:615109	AKT1	207	HP:0001250	Seizures
OMIM:615109	AKT1	207	HP:0012871	Varicocele
OMIM:615109	AKT1	207	HP:0000138	Ovarian cyst
OMIM:615109	AKT1	207	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	AKT1	207	HP:0001102	Angioid streaks of the retina
OMIM:615109	AKT1	207	HP:0002650	Scoliosis
OMIM:615109	AKT1	207	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	AKT1	207	HP:0000034	Hydrocele testis
OMIM:615109	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:615109	AKT1	207	HP:0000771	Gynecomastia
OMIM:615109	AKT1	207	HP:0010609	Skin tags
OMIM:615109	AKT1	207	HP:0000160	Narrow mouth
OMIM:615109	AKT1	207	HP:0000545	Myopia
OMIM:615109	AKT1	207	HP:0002808	Kyphosis
OMIM:615109	AKT1	207	HP:0000853	Goiter
OMIM:614022	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:614022	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:180800	PMP22	5376	HP:0003621	Juvenile onset
OMIM:180800	PMP22	5376	HP:0001270	Motor delay
OMIM:180800	PMP22	5376	HP:0002066	Gait ataxia
OMIM:180800	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:180800	PMP22	5376	HP:0007351	Upper limb postural tremor
OMIM:180800	PMP22	5376	HP:0003677	Slow progression
OMIM:180800	PMP22	5376	HP:0002715	Abnormality of the immune system
OMIM:180800	PMP22	5376	HP:0001765	Hammertoe
OMIM:180800	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:180800	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:180800	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:180800	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:180800	PMP22	5376	HP:0001761	Pes cavus
OMIM:180800	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:180800	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:180800	PMP22	5376	HP:0003382	Hypertrophic nerve changes
OMIM:180800	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:180800	PMP22	5376	HP:0001284	Areflexia
OMIM:180800	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:180800	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:180800	MPZ	4359	HP:0003621	Juvenile onset
OMIM:180800	MPZ	4359	HP:0001270	Motor delay
OMIM:180800	MPZ	4359	HP:0002066	Gait ataxia
OMIM:180800	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:180800	MPZ	4359	HP:0007351	Upper limb postural tremor
OMIM:180800	MPZ	4359	HP:0003677	Slow progression
OMIM:180800	MPZ	4359	HP:0002715	Abnormality of the immune system
OMIM:180800	MPZ	4359	HP:0001765	Hammertoe
OMIM:180800	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:180800	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:180800	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:180800	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:180800	MPZ	4359	HP:0001761	Pes cavus
OMIM:180800	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:180800	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:180800	MPZ	4359	HP:0003382	Hypertrophic nerve changes
OMIM:180800	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:180800	MPZ	4359	HP:0001284	Areflexia
OMIM:180800	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:180800	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:616286	CNTNAP1	8506	HP:0001290	Generalized hypotonia
OMIM:616286	CNTNAP1	8506	HP:0001284	Areflexia
OMIM:616286	CNTNAP1	8506	HP:0001561	Polyhydramnios
OMIM:616286	CNTNAP1	8506	HP:0200136	Oral-pharyngeal dysphagia
OMIM:616286	CNTNAP1	8506	HP:0000007	Autosomal recessive inheritance
OMIM:616286	CNTNAP1	8506	HP:0001349	Facial diplegia
OMIM:616286	CNTNAP1	8506	HP:0006380	Knee flexion contracture
OMIM:616286	CNTNAP1	8506	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616286	CNTNAP1	8506	HP:0001989	Fetal akinesia sequence
ORPHA:1572	CD19	930	HP:0002110	Bronchiectasis
ORPHA:1572	CD19	930	HP:0001744	Splenomegaly
ORPHA:1572	CD19	930	HP:0002721	Immunodeficiency
ORPHA:1572	CD19	930	HP:0001888	Lymphopenia
ORPHA:1572	CD19	930	HP:0002090	Pneumonia
ORPHA:1572	CD19	930	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	CD19	930	HP:0002837	Recurrent bronchitis
ORPHA:1572	CD19	930	HP:0000389	Chronic otitis media
ORPHA:1572	CD19	930	HP:0002023	Anal atresia
ORPHA:1572	CD19	930	HP:0000248	Brachycephaly
ORPHA:1572	CD19	930	HP:0001878	Hemolytic anemia
ORPHA:1572	CD19	930	HP:0004313	Decreased antibody level in blood
ORPHA:1572	CD19	930	HP:0002716	Lymphadenopathy
ORPHA:1572	CD19	930	HP:0000979	Purpura
ORPHA:1572	CD19	930	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	TNFRSF13C	115650	HP:0002110	Bronchiectasis
ORPHA:1572	TNFRSF13C	115650	HP:0001744	Splenomegaly
ORPHA:1572	TNFRSF13C	115650	HP:0002721	Immunodeficiency
ORPHA:1572	TNFRSF13C	115650	HP:0001888	Lymphopenia
ORPHA:1572	TNFRSF13C	115650	HP:0002090	Pneumonia
ORPHA:1572	TNFRSF13C	115650	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	TNFRSF13C	115650	HP:0002837	Recurrent bronchitis
ORPHA:1572	TNFRSF13C	115650	HP:0000389	Chronic otitis media
ORPHA:1572	TNFRSF13C	115650	HP:0002023	Anal atresia
ORPHA:1572	TNFRSF13C	115650	HP:0000248	Brachycephaly
ORPHA:1572	TNFRSF13C	115650	HP:0001878	Hemolytic anemia
ORPHA:1572	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
ORPHA:1572	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
ORPHA:1572	TNFRSF13C	115650	HP:0000979	Purpura
ORPHA:1572	TNFRSF13C	115650	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	MS4A1	931	HP:0002110	Bronchiectasis
ORPHA:1572	MS4A1	931	HP:0001744	Splenomegaly
ORPHA:1572	MS4A1	931	HP:0002721	Immunodeficiency
ORPHA:1572	MS4A1	931	HP:0001888	Lymphopenia
ORPHA:1572	MS4A1	931	HP:0002090	Pneumonia
ORPHA:1572	MS4A1	931	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	MS4A1	931	HP:0002837	Recurrent bronchitis
ORPHA:1572	MS4A1	931	HP:0000389	Chronic otitis media
ORPHA:1572	MS4A1	931	HP:0002023	Anal atresia
ORPHA:1572	MS4A1	931	HP:0000248	Brachycephaly
ORPHA:1572	MS4A1	931	HP:0001878	Hemolytic anemia
ORPHA:1572	MS4A1	931	HP:0004313	Decreased antibody level in blood
ORPHA:1572	MS4A1	931	HP:0002716	Lymphadenopathy
ORPHA:1572	MS4A1	931	HP:0000979	Purpura
ORPHA:1572	MS4A1	931	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	CR2	1380	HP:0002110	Bronchiectasis
ORPHA:1572	CR2	1380	HP:0001744	Splenomegaly
ORPHA:1572	CR2	1380	HP:0002721	Immunodeficiency
ORPHA:1572	CR2	1380	HP:0001888	Lymphopenia
ORPHA:1572	CR2	1380	HP:0002090	Pneumonia
ORPHA:1572	CR2	1380	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	CR2	1380	HP:0002837	Recurrent bronchitis
ORPHA:1572	CR2	1380	HP:0000389	Chronic otitis media
ORPHA:1572	CR2	1380	HP:0002023	Anal atresia
ORPHA:1572	CR2	1380	HP:0000248	Brachycephaly
ORPHA:1572	CR2	1380	HP:0001878	Hemolytic anemia
ORPHA:1572	CR2	1380	HP:0004313	Decreased antibody level in blood
ORPHA:1572	CR2	1380	HP:0002716	Lymphadenopathy
ORPHA:1572	CR2	1380	HP:0000979	Purpura
ORPHA:1572	CR2	1380	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	TNFSF12	8742	HP:0002110	Bronchiectasis
ORPHA:1572	TNFSF12	8742	HP:0001744	Splenomegaly
ORPHA:1572	TNFSF12	8742	HP:0002721	Immunodeficiency
ORPHA:1572	TNFSF12	8742	HP:0001888	Lymphopenia
ORPHA:1572	TNFSF12	8742	HP:0002090	Pneumonia
ORPHA:1572	TNFSF12	8742	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	TNFSF12	8742	HP:0002837	Recurrent bronchitis
ORPHA:1572	TNFSF12	8742	HP:0000389	Chronic otitis media
ORPHA:1572	TNFSF12	8742	HP:0002023	Anal atresia
ORPHA:1572	TNFSF12	8742	HP:0000248	Brachycephaly
ORPHA:1572	TNFSF12	8742	HP:0001878	Hemolytic anemia
ORPHA:1572	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
ORPHA:1572	TNFSF12	8742	HP:0002716	Lymphadenopathy
ORPHA:1572	TNFSF12	8742	HP:0000979	Purpura
ORPHA:1572	TNFSF12	8742	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	NFKB1	4790	HP:0002110	Bronchiectasis
ORPHA:1572	NFKB1	4790	HP:0001744	Splenomegaly
ORPHA:1572	NFKB1	4790	HP:0002721	Immunodeficiency
ORPHA:1572	NFKB1	4790	HP:0001888	Lymphopenia
ORPHA:1572	NFKB1	4790	HP:0002090	Pneumonia
ORPHA:1572	NFKB1	4790	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	NFKB1	4790	HP:0002837	Recurrent bronchitis
ORPHA:1572	NFKB1	4790	HP:0000389	Chronic otitis media
ORPHA:1572	NFKB1	4790	HP:0002023	Anal atresia
ORPHA:1572	NFKB1	4790	HP:0000248	Brachycephaly
ORPHA:1572	NFKB1	4790	HP:0001878	Hemolytic anemia
ORPHA:1572	NFKB1	4790	HP:0004313	Decreased antibody level in blood
ORPHA:1572	NFKB1	4790	HP:0002716	Lymphadenopathy
ORPHA:1572	NFKB1	4790	HP:0000979	Purpura
ORPHA:1572	NFKB1	4790	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	TNFRSF13B	23495	HP:0002110	Bronchiectasis
ORPHA:1572	TNFRSF13B	23495	HP:0001744	Splenomegaly
ORPHA:1572	TNFRSF13B	23495	HP:0002721	Immunodeficiency
ORPHA:1572	TNFRSF13B	23495	HP:0001888	Lymphopenia
ORPHA:1572	TNFRSF13B	23495	HP:0002090	Pneumonia
ORPHA:1572	TNFRSF13B	23495	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	TNFRSF13B	23495	HP:0002837	Recurrent bronchitis
ORPHA:1572	TNFRSF13B	23495	HP:0000389	Chronic otitis media
ORPHA:1572	TNFRSF13B	23495	HP:0002023	Anal atresia
ORPHA:1572	TNFRSF13B	23495	HP:0000248	Brachycephaly
ORPHA:1572	TNFRSF13B	23495	HP:0001878	Hemolytic anemia
ORPHA:1572	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
ORPHA:1572	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
ORPHA:1572	TNFRSF13B	23495	HP:0000979	Purpura
ORPHA:1572	TNFRSF13B	23495	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	NFKB2	4791	HP:0002110	Bronchiectasis
ORPHA:1572	NFKB2	4791	HP:0001744	Splenomegaly
ORPHA:1572	NFKB2	4791	HP:0002721	Immunodeficiency
ORPHA:1572	NFKB2	4791	HP:0001888	Lymphopenia
ORPHA:1572	NFKB2	4791	HP:0002090	Pneumonia
ORPHA:1572	NFKB2	4791	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	NFKB2	4791	HP:0002837	Recurrent bronchitis
ORPHA:1572	NFKB2	4791	HP:0000389	Chronic otitis media
ORPHA:1572	NFKB2	4791	HP:0002023	Anal atresia
ORPHA:1572	NFKB2	4791	HP:0000248	Brachycephaly
ORPHA:1572	NFKB2	4791	HP:0001878	Hemolytic anemia
ORPHA:1572	NFKB2	4791	HP:0004313	Decreased antibody level in blood
ORPHA:1572	NFKB2	4791	HP:0002716	Lymphadenopathy
ORPHA:1572	NFKB2	4791	HP:0000979	Purpura
ORPHA:1572	NFKB2	4791	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	ICOS	29851	HP:0002110	Bronchiectasis
ORPHA:1572	ICOS	29851	HP:0001744	Splenomegaly
ORPHA:1572	ICOS	29851	HP:0002721	Immunodeficiency
ORPHA:1572	ICOS	29851	HP:0001888	Lymphopenia
ORPHA:1572	ICOS	29851	HP:0002090	Pneumonia
ORPHA:1572	ICOS	29851	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	ICOS	29851	HP:0002837	Recurrent bronchitis
ORPHA:1572	ICOS	29851	HP:0000389	Chronic otitis media
ORPHA:1572	ICOS	29851	HP:0002023	Anal atresia
ORPHA:1572	ICOS	29851	HP:0000248	Brachycephaly
ORPHA:1572	ICOS	29851	HP:0001878	Hemolytic anemia
ORPHA:1572	ICOS	29851	HP:0004313	Decreased antibody level in blood
ORPHA:1572	ICOS	29851	HP:0002716	Lymphadenopathy
ORPHA:1572	ICOS	29851	HP:0000979	Purpura
ORPHA:1572	ICOS	29851	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	PRKCD	5580	HP:0002110	Bronchiectasis
ORPHA:1572	PRKCD	5580	HP:0001744	Splenomegaly
ORPHA:1572	PRKCD	5580	HP:0002721	Immunodeficiency
ORPHA:1572	PRKCD	5580	HP:0001888	Lymphopenia
ORPHA:1572	PRKCD	5580	HP:0002090	Pneumonia
ORPHA:1572	PRKCD	5580	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	PRKCD	5580	HP:0002837	Recurrent bronchitis
ORPHA:1572	PRKCD	5580	HP:0000389	Chronic otitis media
ORPHA:1572	PRKCD	5580	HP:0002023	Anal atresia
ORPHA:1572	PRKCD	5580	HP:0000248	Brachycephaly
ORPHA:1572	PRKCD	5580	HP:0001878	Hemolytic anemia
ORPHA:1572	PRKCD	5580	HP:0004313	Decreased antibody level in blood
ORPHA:1572	PRKCD	5580	HP:0002716	Lymphadenopathy
ORPHA:1572	PRKCD	5580	HP:0000979	Purpura
ORPHA:1572	PRKCD	5580	HP:0002910	Elevated hepatic transaminases
ORPHA:1572	CD81	975	HP:0002110	Bronchiectasis
ORPHA:1572	CD81	975	HP:0001744	Splenomegaly
ORPHA:1572	CD81	975	HP:0002721	Immunodeficiency
ORPHA:1572	CD81	975	HP:0001888	Lymphopenia
ORPHA:1572	CD81	975	HP:0002090	Pneumonia
ORPHA:1572	CD81	975	HP:0001973	Autoimmune thrombocytopenia
ORPHA:1572	CD81	975	HP:0002837	Recurrent bronchitis
ORPHA:1572	CD81	975	HP:0000389	Chronic otitis media
ORPHA:1572	CD81	975	HP:0002023	Anal atresia
ORPHA:1572	CD81	975	HP:0000248	Brachycephaly
ORPHA:1572	CD81	975	HP:0001878	Hemolytic anemia
ORPHA:1572	CD81	975	HP:0004313	Decreased antibody level in blood
ORPHA:1572	CD81	975	HP:0002716	Lymphadenopathy
ORPHA:1572	CD81	975	HP:0000979	Purpura
ORPHA:1572	CD81	975	HP:0002910	Elevated hepatic transaminases
OMIM:613265	EDN3	1908	HP:0002216	Premature graying of hair
OMIM:613265	EDN3	1908	HP:0001100	Heterochromia iridis
OMIM:613265	EDN3	1908	HP:0002226	White eyebrow
OMIM:613265	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:613265	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:613265	EDN3	1908	HP:0000007	Autosomal recessive inheritance
OMIM:613265	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:613265	EDN3	1908	HP:0000635	Blue irides
OMIM:613265	EDN3	1908	HP:0001425	Heterogeneous
OMIM:613265	EDN3	1908	HP:0002211	White forelock
OMIM:613265	EDN3	1908	HP:0001053	Hypopigmented skin patches
OMIM:613265	EDN3	1908	HP:0002227	White eyelashes
ORPHA:98896	LTBP4	8425	HP:0001638	Cardiomyopathy
ORPHA:98896	LTBP4	8425	HP:0001263	Global developmental delay
ORPHA:98896	LTBP4	8425	HP:0000750	Delayed speech and language development
ORPHA:98896	LTBP4	8425	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:98896	LTBP4	8425	HP:0003701	Proximal muscle weakness
ORPHA:98896	LTBP4	8425	HP:0003323	Progressive muscle weakness
ORPHA:98896	LTBP4	8425	HP:0001270	Motor delay
ORPHA:98896	LTBP4	8425	HP:0002093	Respiratory insufficiency
ORPHA:98896	LTBP4	8425	HP:0003202	Skeletal muscle atrophy
ORPHA:98896	LTBP4	8425	HP:0100543	Cognitive impairment
ORPHA:98896	LTBP4	8425	HP:0001371	Flexion contracture
ORPHA:98896	LTBP4	8425	HP:0001328	Specific learning disability
ORPHA:98896	LTBP4	8425	HP:0002515	Waddling gait
ORPHA:98896	LTBP4	8425	HP:0002650	Scoliosis
ORPHA:98896	LTBP4	8425	HP:0008981	Calf muscle hypertrophy
ORPHA:98896	DMD	1756	HP:0001638	Cardiomyopathy
ORPHA:98896	DMD	1756	HP:0001263	Global developmental delay
ORPHA:98896	DMD	1756	HP:0000750	Delayed speech and language development
ORPHA:98896	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:98896	DMD	1756	HP:0003701	Proximal muscle weakness
ORPHA:98896	DMD	1756	HP:0003323	Progressive muscle weakness
ORPHA:98896	DMD	1756	HP:0001270	Motor delay
ORPHA:98896	DMD	1756	HP:0002093	Respiratory insufficiency
ORPHA:98896	DMD	1756	HP:0003202	Skeletal muscle atrophy
ORPHA:98896	DMD	1756	HP:0100543	Cognitive impairment
ORPHA:98896	DMD	1756	HP:0001371	Flexion contracture
ORPHA:98896	DMD	1756	HP:0001328	Specific learning disability
ORPHA:98896	DMD	1756	HP:0002515	Waddling gait
ORPHA:98896	DMD	1756	HP:0002650	Scoliosis
ORPHA:98896	DMD	1756	HP:0008981	Calf muscle hypertrophy
OMIM:300106	BGN	633	HP:0002673	Coxa valga
OMIM:300106	BGN	633	HP:0005066	Cone-shaped epiphyses fused within their metaphyses
OMIM:300106	BGN	633	HP:0001773	Short foot
OMIM:300106	BGN	633	HP:0002938	Lumbar hyperlordosis
OMIM:300106	BGN	633	HP:0003025	Metaphyseal irregularity
OMIM:300106	BGN	633	HP:0004981	Prominent styloid process of ulna
OMIM:300106	BGN	633	HP:0006371	Broad long bone diaphyses
OMIM:300106	BGN	633	HP:0002869	Flared iliac wings
OMIM:300106	BGN	633	HP:0006059	Cone-shaped metacarpal epiphyses
OMIM:300106	BGN	633	HP:0000922	Posterior rib cupping
OMIM:300106	BGN	633	HP:0003180	Flat acetabular roof
OMIM:300106	BGN	633	HP:0003988	Long ulna
OMIM:300106	BGN	633	HP:0010049	Short metacarpal
OMIM:300106	BGN	633	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:300106	BGN	633	HP:0004573	Anterior wedging of T11
OMIM:300106	BGN	633	HP:0011940	Anterior wedging of T12
OMIM:300106	BGN	633	HP:0003026	Short long bone
OMIM:300106	BGN	633	HP:0009486	Radial deviation of the hand
OMIM:300106	BGN	633	HP:0003311	Hypoplasia of the odontoid process
OMIM:300106	BGN	633	HP:0003521	Disproportionate short-trunk short stature
OMIM:300106	BGN	633	HP:0004279	Short palm
OMIM:300106	BGN	633	HP:0000894	Short clavicles
OMIM:300106	BGN	633	HP:0006009	Broad phalanx
OMIM:300106	BGN	633	HP:0009803	Short phalanx of finger
OMIM:300106	BGN	633	HP:0001419	X-linked recessive inheritance
OMIM:300106	BGN	633	HP:0002808	Kyphosis
OMIM:300106	BGN	633	HP:0003275	Narrow pelvis bone
OMIM:300106	BGN	633	HP:0000327	Hypoplasia of the maxilla
OMIM:300106	BGN	633	HP:0001377	Limited elbow extension
OMIM:300106	BGN	633	HP:0001216	Delayed ossification of carpal bones
OMIM:300106	BGN	633	HP:0003085	Long fibula
OMIM:300106	BGN	633	HP:0000926	Platyspondyly
OMIM:300106	BGN	633	HP:0001156	Brachydactyly
OMIM:300106	BGN	633	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:300106	BGN	633	HP:0001230	Broad metacarpals
OMIM:300106	BGN	633	HP:0000768	Pectus carinatum
OMIM:610333	RNASEH2A	10535	HP:0002240	Hepatomegaly
OMIM:610333	RNASEH2A	10535	HP:0000238	Hydrocephalus
OMIM:610333	RNASEH2A	10535	HP:0001511	Intrauterine growth retardation
OMIM:610333	RNASEH2A	10535	HP:0011344	Severe global developmental delay
OMIM:610333	RNASEH2A	10535	HP:0001876	Pancytopenia
OMIM:610333	RNASEH2A	10535	HP:0002059	Cerebral atrophy
OMIM:610333	RNASEH2A	10535	HP:0001873	Thrombocytopenia
OMIM:610333	RNASEH2A	10535	HP:0002910	Elevated hepatic transaminases
OMIM:610333	RNASEH2A	10535	HP:0001433	Hepatosplenomegaly
OMIM:610333	RNASEH2A	10535	HP:0003819	Death in childhood
OMIM:610333	RNASEH2A	10535	HP:0000253	Progressive microcephaly
OMIM:610333	RNASEH2A	10535	HP:0002119	Ventriculomegaly
OMIM:610333	RNASEH2A	10535	HP:0003593	Infantile onset
OMIM:610333	RNASEH2A	10535	HP:0011968	Feeding difficulties
OMIM:610333	RNASEH2A	10535	HP:0001744	Splenomegaly
OMIM:610333	RNASEH2A	10535	HP:0000444	Convex nasal ridge
OMIM:610333	RNASEH2A	10535	HP:0001272	Cerebellar atrophy
OMIM:610333	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:610333	RNASEH2A	10535	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	RNASEH2A	10535	HP:0001257	Spasticity
OMIM:610333	RNASEH2A	10535	HP:0002415	Leukodystrophy
OMIM:610333	RNASEH2A	10535	HP:0002514	Cerebral calcification
OMIM:610333	RNASEH2A	10535	HP:0000369	Low-set ears
OMIM:610333	RNASEH2A	10535	HP:0001332	Dystonia
ORPHA:357074	ATP6V1E1	529	HP:0001305	Dandy-Walker malformation
ORPHA:357074	ATP6V1E1	529	HP:0000486	Strabismus
ORPHA:357074	ATP6V1E1	529	HP:0003160	Abnormal isoelectric focusing of serum transferrin
ORPHA:357074	ATP6V1E1	529	HP:0001270	Motor delay
ORPHA:357074	ATP6V1E1	529	HP:0025167	Fragmented elastic fibers in the dermis
ORPHA:357074	ATP6V1E1	529	HP:0000023	Inguinal hernia
ORPHA:357074	ATP6V1E1	529	HP:0009125	Lipodystrophy
ORPHA:357074	ATP6V1E1	529	HP:0001321	Cerebellar hypoplasia
ORPHA:357074	ATP6V1E1	529	HP:0007392	Excessive wrinkled skin
ORPHA:357074	ATP6V1E1	529	HP:0100874	Thick hair
ORPHA:357074	ATP6V1E1	529	HP:0002126	Polymicrogyria
ORPHA:357074	ATP6V1E1	529	HP:0000369	Low-set ears
ORPHA:357074	ATP6V1E1	529	HP:0001508	Failure to thrive
ORPHA:357074	ATP6V1E1	529	HP:0003196	Short nose
ORPHA:357074	ATP6V1E1	529	HP:0008947	Infantile muscular hypotonia
ORPHA:357074	ATP6V1E1	529	HP:0001374	Congenital hip dislocation
ORPHA:357074	ATP6V1E1	529	HP:0000750	Delayed speech and language development
ORPHA:357074	ATP6V1E1	529	HP:0007552	Abnormal subcutaneous fat tissue distribution
ORPHA:357074	ATP6V1E1	529	HP:0001257	Spasticity
ORPHA:357074	ATP6V1E1	529	HP:0011003	Severe Myopia
ORPHA:357074	ATP6V1E1	529	HP:0000670	Carious teeth
ORPHA:357074	ATP6V1E1	529	HP:0011968	Feeding difficulties
ORPHA:357074	ATP6V1E1	529	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:357074	ATP6V1E1	529	HP:0000316	Hypertelorism
ORPHA:357074	ATP6V1E1	529	HP:0004322	Short stature
ORPHA:357074	ATP6V1E1	529	HP:0006891	Thick cerebral cortex
ORPHA:357074	ATP6V1E1	529	HP:0000218	High palate
ORPHA:357074	ATP6V1E1	529	HP:0000494	Downslanted palpebral fissures
ORPHA:357074	ATP6V1E1	529	HP:0005272	Prominent nasolabial fold
ORPHA:357074	ATP6V1E1	529	HP:0001250	Seizures
ORPHA:357074	ATP6V1E1	529	HP:0025201	Abnormal apolipoprotein level
ORPHA:357074	ATP6V1E1	529	HP:0008070	Sparse hair
ORPHA:357074	ATP6V1E1	529	HP:0008897	Postnatal growth retardation
ORPHA:357074	ATP6V1E1	529	HP:0003199	Decreased muscle mass
ORPHA:357074	ATP6V1E1	529	HP:0002465	Poor speech
ORPHA:357074	ATP6V1E1	529	HP:0000455	Broad nasal tip
ORPHA:357074	ATP6V1E1	529	HP:0025244	Subretinal pigment epithelium hemorrhage
ORPHA:357074	ATP6V1E1	529	HP:0002208	Coarse hair
ORPHA:357074	ATP6V1E1	529	HP:0000253	Progressive microcephaly
ORPHA:357074	ATP6V1E1	529	HP:0000726	Dementia
ORPHA:357074	ATP6V1E1	529	HP:0000343	Long philtrum
ORPHA:357074	ATP6V1E1	529	HP:0002187	Intellectual disability, profound
ORPHA:357074	ATP6V1E1	529	HP:0001263	Global developmental delay
ORPHA:357074	ATP6V1E1	529	HP:0002761	Generalized joint laxity
ORPHA:357074	ATP6V1E1	529	HP:0000272	Malar flattening
ORPHA:357074	ATP6V1E1	529	HP:0001511	Intrauterine growth retardation
ORPHA:357074	ATP6V1E1	529	HP:0000319	Smooth philtrum
ORPHA:357074	ATP6V1E1	529	HP:0007457	Prominent veins on trunk
ORPHA:357074	ATP6V1E1	529	HP:0001302	Pachygyria
ORPHA:357074	ATP6V1E1	529	HP:0005989	Redundant neck skin
ORPHA:357074	ATP6V1E1	529	HP:0001339	Lissencephaly
ORPHA:357074	ATP6V1E1	529	HP:0002361	Psychomotor deterioration
ORPHA:357074	ATP6V0A2	23545	HP:0001305	Dandy-Walker malformation
ORPHA:357074	ATP6V0A2	23545	HP:0000486	Strabismus
ORPHA:357074	ATP6V0A2	23545	HP:0003160	Abnormal isoelectric focusing of serum transferrin
ORPHA:357074	ATP6V0A2	23545	HP:0001270	Motor delay
ORPHA:357074	ATP6V0A2	23545	HP:0025167	Fragmented elastic fibers in the dermis
ORPHA:357074	ATP6V0A2	23545	HP:0000023	Inguinal hernia
ORPHA:357074	ATP6V0A2	23545	HP:0009125	Lipodystrophy
ORPHA:357074	ATP6V0A2	23545	HP:0001321	Cerebellar hypoplasia
ORPHA:357074	ATP6V0A2	23545	HP:0007392	Excessive wrinkled skin
ORPHA:357074	ATP6V0A2	23545	HP:0100874	Thick hair
ORPHA:357074	ATP6V0A2	23545	HP:0002126	Polymicrogyria
ORPHA:357074	ATP6V0A2	23545	HP:0000369	Low-set ears
ORPHA:357074	ATP6V0A2	23545	HP:0001508	Failure to thrive
ORPHA:357074	ATP6V0A2	23545	HP:0003196	Short nose
ORPHA:357074	ATP6V0A2	23545	HP:0008947	Infantile muscular hypotonia
ORPHA:357074	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
ORPHA:357074	ATP6V0A2	23545	HP:0000750	Delayed speech and language development
ORPHA:357074	ATP6V0A2	23545	HP:0007552	Abnormal subcutaneous fat tissue distribution
ORPHA:357074	ATP6V0A2	23545	HP:0001257	Spasticity
ORPHA:357074	ATP6V0A2	23545	HP:0011003	Severe Myopia
ORPHA:357074	ATP6V0A2	23545	HP:0000670	Carious teeth
ORPHA:357074	ATP6V0A2	23545	HP:0011968	Feeding difficulties
ORPHA:357074	ATP6V0A2	23545	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:357074	ATP6V0A2	23545	HP:0000316	Hypertelorism
ORPHA:357074	ATP6V0A2	23545	HP:0004322	Short stature
ORPHA:357074	ATP6V0A2	23545	HP:0006891	Thick cerebral cortex
ORPHA:357074	ATP6V0A2	23545	HP:0000218	High palate
ORPHA:357074	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
ORPHA:357074	ATP6V0A2	23545	HP:0005272	Prominent nasolabial fold
ORPHA:357074	ATP6V0A2	23545	HP:0001250	Seizures
ORPHA:357074	ATP6V0A2	23545	HP:0025201	Abnormal apolipoprotein level
ORPHA:357074	ATP6V0A2	23545	HP:0008070	Sparse hair
ORPHA:357074	ATP6V0A2	23545	HP:0008897	Postnatal growth retardation
ORPHA:357074	ATP6V0A2	23545	HP:0003199	Decreased muscle mass
ORPHA:357074	ATP6V0A2	23545	HP:0002465	Poor speech
ORPHA:357074	ATP6V0A2	23545	HP:0000455	Broad nasal tip
ORPHA:357074	ATP6V0A2	23545	HP:0025244	Subretinal pigment epithelium hemorrhage
ORPHA:357074	ATP6V0A2	23545	HP:0002208	Coarse hair
ORPHA:357074	ATP6V0A2	23545	HP:0000253	Progressive microcephaly
ORPHA:357074	ATP6V0A2	23545	HP:0000726	Dementia
ORPHA:357074	ATP6V0A2	23545	HP:0000343	Long philtrum
ORPHA:357074	ATP6V0A2	23545	HP:0002187	Intellectual disability, profound
ORPHA:357074	ATP6V0A2	23545	HP:0001263	Global developmental delay
ORPHA:357074	ATP6V0A2	23545	HP:0002761	Generalized joint laxity
ORPHA:357074	ATP6V0A2	23545	HP:0000272	Malar flattening
ORPHA:357074	ATP6V0A2	23545	HP:0001511	Intrauterine growth retardation
ORPHA:357074	ATP6V0A2	23545	HP:0000319	Smooth philtrum
ORPHA:357074	ATP6V0A2	23545	HP:0007457	Prominent veins on trunk
ORPHA:357074	ATP6V0A2	23545	HP:0001302	Pachygyria
ORPHA:357074	ATP6V0A2	23545	HP:0005989	Redundant neck skin
ORPHA:357074	ATP6V0A2	23545	HP:0001339	Lissencephaly
ORPHA:357074	ATP6V0A2	23545	HP:0002361	Psychomotor deterioration
ORPHA:357074	ATP6V1A	523	HP:0001305	Dandy-Walker malformation
ORPHA:357074	ATP6V1A	523	HP:0000486	Strabismus
ORPHA:357074	ATP6V1A	523	HP:0003160	Abnormal isoelectric focusing of serum transferrin
ORPHA:357074	ATP6V1A	523	HP:0001270	Motor delay
ORPHA:357074	ATP6V1A	523	HP:0025167	Fragmented elastic fibers in the dermis
ORPHA:357074	ATP6V1A	523	HP:0000023	Inguinal hernia
ORPHA:357074	ATP6V1A	523	HP:0009125	Lipodystrophy
ORPHA:357074	ATP6V1A	523	HP:0001321	Cerebellar hypoplasia
ORPHA:357074	ATP6V1A	523	HP:0007392	Excessive wrinkled skin
ORPHA:357074	ATP6V1A	523	HP:0100874	Thick hair
ORPHA:357074	ATP6V1A	523	HP:0002126	Polymicrogyria
ORPHA:357074	ATP6V1A	523	HP:0000369	Low-set ears
ORPHA:357074	ATP6V1A	523	HP:0001508	Failure to thrive
ORPHA:357074	ATP6V1A	523	HP:0003196	Short nose
ORPHA:357074	ATP6V1A	523	HP:0008947	Infantile muscular hypotonia
ORPHA:357074	ATP6V1A	523	HP:0001374	Congenital hip dislocation
ORPHA:357074	ATP6V1A	523	HP:0000750	Delayed speech and language development
ORPHA:357074	ATP6V1A	523	HP:0007552	Abnormal subcutaneous fat tissue distribution
ORPHA:357074	ATP6V1A	523	HP:0001257	Spasticity
ORPHA:357074	ATP6V1A	523	HP:0011003	Severe Myopia
ORPHA:357074	ATP6V1A	523	HP:0000670	Carious teeth
ORPHA:357074	ATP6V1A	523	HP:0011968	Feeding difficulties
ORPHA:357074	ATP6V1A	523	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:357074	ATP6V1A	523	HP:0000316	Hypertelorism
ORPHA:357074	ATP6V1A	523	HP:0004322	Short stature
ORPHA:357074	ATP6V1A	523	HP:0006891	Thick cerebral cortex
ORPHA:357074	ATP6V1A	523	HP:0000218	High palate
ORPHA:357074	ATP6V1A	523	HP:0000494	Downslanted palpebral fissures
ORPHA:357074	ATP6V1A	523	HP:0005272	Prominent nasolabial fold
ORPHA:357074	ATP6V1A	523	HP:0001250	Seizures
ORPHA:357074	ATP6V1A	523	HP:0025201	Abnormal apolipoprotein level
ORPHA:357074	ATP6V1A	523	HP:0008070	Sparse hair
ORPHA:357074	ATP6V1A	523	HP:0008897	Postnatal growth retardation
ORPHA:357074	ATP6V1A	523	HP:0003199	Decreased muscle mass
ORPHA:357074	ATP6V1A	523	HP:0002465	Poor speech
ORPHA:357074	ATP6V1A	523	HP:0000455	Broad nasal tip
ORPHA:357074	ATP6V1A	523	HP:0025244	Subretinal pigment epithelium hemorrhage
ORPHA:357074	ATP6V1A	523	HP:0002208	Coarse hair
ORPHA:357074	ATP6V1A	523	HP:0000253	Progressive microcephaly
ORPHA:357074	ATP6V1A	523	HP:0000726	Dementia
ORPHA:357074	ATP6V1A	523	HP:0000343	Long philtrum
ORPHA:357074	ATP6V1A	523	HP:0002187	Intellectual disability, profound
ORPHA:357074	ATP6V1A	523	HP:0001263	Global developmental delay
ORPHA:357074	ATP6V1A	523	HP:0002761	Generalized joint laxity
ORPHA:357074	ATP6V1A	523	HP:0000272	Malar flattening
ORPHA:357074	ATP6V1A	523	HP:0001511	Intrauterine growth retardation
ORPHA:357074	ATP6V1A	523	HP:0000319	Smooth philtrum
ORPHA:357074	ATP6V1A	523	HP:0007457	Prominent veins on trunk
ORPHA:357074	ATP6V1A	523	HP:0001302	Pachygyria
ORPHA:357074	ATP6V1A	523	HP:0005989	Redundant neck skin
ORPHA:357074	ATP6V1A	523	HP:0001339	Lissencephaly
ORPHA:357074	ATP6V1A	523	HP:0002361	Psychomotor deterioration
OMIM:156250	PTPN11	5781	HP:0006487	Bowing of the long bones
OMIM:156250	PTPN11	5781	HP:0005701	Multiple enchondromatosis
OMIM:156250	PTPN11	5781	HP:0001367	Abnormal joint morphology
OMIM:156250	PTPN11	5781	HP:0005655	Multiple digital exostoses
OMIM:156250	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:614473	ABCC6	368	HP:0001717	Coronary artery calcification
OMIM:614473	ABCC6	368	HP:0000007	Autosomal recessive inheritance
OMIM:614473	ABCC6	368	HP:0001635	Congestive heart failure
OMIM:616538	DAG1	1605	HP:0000545	Myopia
OMIM:616538	DAG1	1605	HP:0002514	Cerebral calcification
OMIM:616538	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:616538	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:616538	DAG1	1605	HP:0000256	Macrocephaly
OMIM:616538	DAG1	1605	HP:0003593	Infantile onset
OMIM:616538	DAG1	1605	HP:0000557	Buphthalmos
OMIM:616538	DAG1	1605	HP:0000518	Cataract
OMIM:616538	DAG1	1605	HP:0003828	Variable expressivity
OMIM:616538	DAG1	1605	HP:0001263	Global developmental delay
OMIM:616538	DAG1	1605	HP:0002415	Leukodystrophy
OMIM:616538	DAG1	1605	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:616538	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:616538	DAG1	1605	HP:0000568	Microphthalmia
OMIM:616538	DAG1	1605	HP:0001344	Absent speech
OMIM:616538	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:616538	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	DAG1	1605	HP:0002878	Respiratory failure
OMIM:616538	DAG1	1605	HP:0001290	Generalized hypotonia
OMIM:616538	DAG1	1605	HP:0000556	Retinal dystrophy
OMIM:616538	DAG1	1605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	DAG1	1605	HP:0002421	Poor head control
OMIM:616538	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:300863	HDAC6	10013	HP:0000256	Macrocephaly
OMIM:300863	HDAC6	10013	HP:0012789	Hypoplasia of the calcaneus
OMIM:300863	HDAC6	10013	HP:0000568	Microphthalmia
OMIM:300863	HDAC6	10013	HP:0002866	Hypoplastic iliac wing
OMIM:300863	HDAC6	10013	HP:0002007	Frontal bossing
OMIM:300863	HDAC6	10013	HP:0006208	Metaphyseal cupping of proximal phalanges
OMIM:300863	HDAC6	10013	HP:0000457	Depressed nasal ridge
OMIM:300863	HDAC6	10013	HP:0001256	Intellectual disability, mild
OMIM:300863	HDAC6	10013	HP:0006402	Distal shortening of limbs
OMIM:300863	HDAC6	10013	HP:0000238	Hydrocephalus
OMIM:300863	HDAC6	10013	HP:0001511	Intrauterine growth retardation
OMIM:300863	HDAC6	10013	HP:0008905	Rhizomelia
OMIM:300863	HDAC6	10013	HP:0004331	Decreased skull ossification
OMIM:300863	HDAC6	10013	HP:0006028	Metaphyseal cupping of metacarpals
OMIM:300863	HDAC6	10013	HP:0001423	X-linked dominant inheritance
OMIM:300863	HDAC6	10013	HP:0003196	Short nose
OMIM:300863	HDAC6	10013	HP:0004322	Short stature
OMIM:300863	HDAC6	10013	HP:0000883	Thin ribs
OMIM:300863	HDAC6	10013	HP:0000926	Platyspondyly
OMIM:300863	HDAC6	10013	HP:0000369	Low-set ears
ORPHA:1276	PDE3A	5139	HP:0004322	Short stature
ORPHA:1276	PDE3A	5139	HP:0009803	Short phalanx of finger
ORPHA:1276	PDE3A	5139	HP:0001156	Brachydactyly
ORPHA:1276	PDE3A	5139	HP:0000822	Hypertension
ORPHA:1276	PDE3A	5139	HP:0010049	Short metacarpal
OMIM:251950	PNPLA8	50640	HP:0008504	Moderate sensorineural hearing impairment
OMIM:251950	PNPLA8	50640	HP:0008897	Postnatal growth retardation
OMIM:251950	PNPLA8	50640	HP:0001257	Spasticity
OMIM:251950	PNPLA8	50640	HP:0001290	Generalized hypotonia
OMIM:251950	PNPLA8	50640	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:251950	PNPLA8	50640	HP:0003676	Progressive
OMIM:251950	PNPLA8	50640	HP:0001310	Dysmetria
OMIM:251950	PNPLA8	50640	HP:0003128	Lactic acidosis
OMIM:251950	PNPLA8	50640	HP:0003737	Mitochondrial myopathy
OMIM:251950	PNPLA8	50640	HP:0002572	Episodic vomiting
OMIM:251950	PNPLA8	50640	HP:0003348	Hyperalaninemia
OMIM:251950	PNPLA8	50640	HP:0003542	Increased serum pyruvate
OMIM:251950	PNPLA8	50640	HP:0000007	Autosomal recessive inheritance
OMIM:251950	PNPLA8	50640	HP:0002151	Increased serum lactate
OMIM:251950	PNPLA8	50640	HP:0001332	Dystonia
OMIM:251950	PNPLA8	50640	HP:0003593	Infantile onset
OMIM:251950	PNPLA8	50640	HP:0040083	Toe walking
OMIM:251950	PNPLA8	50640	HP:0001260	Dysarthria
OMIM:251950	PNPLA8	50640	HP:0001269	Hemiparesis
OMIM:251950	PNPLA8	50640	HP:0003391	Gowers sign
OMIM:600962	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:600962	KRT1	3848	HP:0007404	Nonepidermolytic palmoplantar keratoderma
OMIM:300988	MSN	4478	HP:0004313	Decreased antibody level in blood
OMIM:300988	MSN	4478	HP:0002205	Recurrent respiratory infections
OMIM:300988	MSN	4478	HP:0001888	Lymphopenia
OMIM:300988	MSN	4478	HP:0000010	Recurrent urinary tract infections
OMIM:300988	MSN	4478	HP:0000964	Eczema
OMIM:300988	MSN	4478	HP:0001419	X-linked recessive inheritance
OMIM:613546	CYP19A1	1588	HP:0000138	Ovarian cyst
OMIM:613546	CYP19A1	1588	HP:0002750	Delayed skeletal maturation
OMIM:613546	CYP19A1	1588	HP:0000815	Hypergonadotropic hypogonadism
OMIM:613546	CYP19A1	1588	HP:0010458	Female pseudohermaphroditism
OMIM:613546	CYP19A1	1588	HP:0000007	Autosomal recessive inheritance
OMIM:613546	CYP19A1	1588	HP:0000786	Primary amenorrhea
OMIM:615298	GDF5	8200	HP:0009177	Proximal/middle symphalangism of 5th finger
OMIM:615298	GDF5	8200	HP:0006143	Abnormal finger flexion creases
OMIM:615298	GDF5	8200	HP:0001763	Pes planus
OMIM:161800	ACTA1	58	HP:0001283	Bulbar palsy
OMIM:161800	ACTA1	58	HP:0000007	Autosomal recessive inheritance
OMIM:161800	ACTA1	58	HP:0002515	Waddling gait
OMIM:161800	ACTA1	58	HP:0003324	Generalized muscle weakness
OMIM:161800	ACTA1	58	HP:0001270	Motor delay
OMIM:161800	ACTA1	58	HP:0003798	Nemaline bodies
OMIM:161800	ACTA1	58	HP:0003690	Limb muscle weakness
OMIM:161800	ACTA1	58	HP:0001761	Pes cavus
OMIM:161800	ACTA1	58	HP:0001558	Decreased fetal movement
OMIM:161800	ACTA1	58	HP:0003810	Late-onset distal muscle weakness
OMIM:161800	ACTA1	58	HP:0001533	Slender build
OMIM:161800	ACTA1	58	HP:0001319	Neonatal hypotonia
OMIM:161800	ACTA1	58	HP:0008872	Feeding difficulties in infancy
OMIM:161800	ACTA1	58	HP:0002359	Frequent falls
OMIM:161800	ACTA1	58	HP:0003458	EMG: myopathic abnormalities
OMIM:161800	ACTA1	58	HP:0010628	Facial palsy
OMIM:161800	ACTA1	58	HP:0000278	Retrognathia
OMIM:161800	ACTA1	58	HP:0003722	Neck flexor weakness
OMIM:161800	ACTA1	58	HP:0003445	EMG: neuropathic changes
OMIM:161800	ACTA1	58	HP:0001425	Heterogeneous
OMIM:161800	ACTA1	58	HP:0002058	Myopathic facies
OMIM:161800	ACTA1	58	HP:0002650	Scoliosis
OMIM:161800	ACTA1	58	HP:0000006	Autosomal dominant inheritance
OMIM:161800	ACTA1	58	HP:0000298	Mask-like facies
OMIM:161800	ACTA1	58	HP:0003306	Spinal rigidity
OMIM:161800	ACTA1	58	HP:0003812	Phenotypic variability
OMIM:161800	ACTA1	58	HP:0003803	Type 1 muscle fiber predominance
OMIM:161800	ACTA1	58	HP:0003701	Proximal muscle weakness
OMIM:161800	ACTA1	58	HP:0002015	Dysphagia
OMIM:161800	ACTA1	58	HP:0003307	Hyperlordosis
OMIM:161800	ACTA1	58	HP:0001284	Areflexia
OMIM:161800	ACTA1	58	HP:0001561	Polyhydramnios
OMIM:161800	ACTA1	58	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:161800	ACTA1	58	HP:0002804	Arthrogryposis multiplex congenita
OMIM:161800	ACTA1	58	HP:0000218	High palate
OMIM:161800	ACTA1	58	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:161800	ACTA1	58	HP:0001265	Hyporeflexia
OMIM:271245	TWNK	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:271245	TWNK	56652	HP:0001324	Muscle weakness
OMIM:271245	TWNK	56652	HP:0002076	Migraine
OMIM:271245	TWNK	56652	HP:0000648	Optic atrophy
OMIM:271245	TWNK	56652	HP:0001249	Intellectual disability
OMIM:271245	TWNK	56652	HP:0000709	Psychosis
OMIM:271245	TWNK	56652	HP:0001251	Ataxia
OMIM:271245	TWNK	56652	HP:0200134	Epileptic encephalopathy
OMIM:271245	TWNK	56652	HP:0001284	Areflexia
OMIM:271245	TWNK	56652	HP:0002120	Cerebral cortical atrophy
OMIM:271245	TWNK	56652	HP:0000817	Poor eye contact
OMIM:271245	TWNK	56652	HP:0001328	Specific learning disability
OMIM:271245	TWNK	56652	HP:0003676	Progressive
OMIM:271245	TWNK	56652	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:271245	TWNK	56652	HP:0001262	Excessive daytime somnolence
OMIM:271245	TWNK	56652	HP:0001272	Cerebellar atrophy
OMIM:271245	TWNK	56652	HP:0002312	Clumsiness
OMIM:271245	TWNK	56652	HP:0000639	Nystagmus
OMIM:271245	TWNK	56652	HP:0001290	Generalized hypotonia
OMIM:271245	TWNK	56652	HP:0000007	Autosomal recessive inheritance
OMIM:271245	TWNK	56652	HP:0000602	Ophthalmoplegia
OMIM:271245	TWNK	56652	HP:0000365	Hearing impairment
OMIM:271245	TWNK	56652	HP:0002305	Athetosis
OMIM:271245	TWNK	56652	HP:0012847	Epilepsia partialis continua
OMIM:271245	TWNK	56652	HP:0003390	Sensory axonal neuropathy
OMIM:271245	TWNK	56652	HP:0006957	Loss of ability to walk
ORPHA:140941	IGFALS	3483	HP:0000855	Insulin resistance
ORPHA:140941	IGFALS	3483	HP:0002750	Delayed skeletal maturation
ORPHA:140941	IGFALS	3483	HP:0000823	Delayed puberty
ORPHA:140941	IGFALS	3483	HP:0000347	Micrognathia
ORPHA:140941	IGFALS	3483	HP:0030353	Decreased serum insulin-like growth factor 1
ORPHA:140941	IGFALS	3483	HP:0001956	Truncal obesity
OMIM:113650	EYA1	2138	HP:0000275	Narrow face
OMIM:113650	EYA1	2138	HP:0011094	Overbite
OMIM:113650	EYA1	2138	HP:0000410	Mixed hearing impairment
OMIM:113650	EYA1	2138	HP:0001425	Heterogeneous
OMIM:113650	EYA1	2138	HP:0004742	Abnormality of the renal collecting system
OMIM:113650	EYA1	2138	HP:0004712	Renal malrotation
OMIM:113650	EYA1	2138	HP:0000076	Vesicoureteral reflux
OMIM:113650	EYA1	2138	HP:0000799	Renal steatosis
OMIM:113650	EYA1	2138	HP:0000113	Polycystic kidney dysplasia
OMIM:113650	EYA1	2138	HP:0000193	Bifid uvula
OMIM:113650	EYA1	2138	HP:0002060	Abnormality of the cerebrum
OMIM:113650	EYA1	2138	HP:0001374	Congenital hip dislocation
OMIM:113650	EYA1	2138	HP:0000104	Renal agenesis
OMIM:113650	EYA1	2138	HP:0009795	Branchial fistula
OMIM:113650	EYA1	2138	HP:0000110	Renal dysplasia
OMIM:113650	EYA1	2138	HP:0000276	Long face
OMIM:113650	EYA1	2138	HP:0000691	Microdontia
OMIM:113650	EYA1	2138	HP:0003829	Incomplete penetrance
OMIM:113650	EYA1	2138	HP:0004458	Dilatated internal auditory canal
OMIM:113650	EYA1	2138	HP:0000376	Incomplete partition of the cochlea type II
OMIM:113650	EYA1	2138	HP:0003828	Variable expressivity
OMIM:113650	EYA1	2138	HP:0009798	Euthyroid goiter
OMIM:113650	EYA1	2138	HP:0100274	Gustatory lacrimation
OMIM:113650	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:113650	EYA1	2138	HP:0009797	Cholesteatoma
OMIM:113650	EYA1	2138	HP:0000218	High palate
OMIM:113650	EYA1	2138	HP:0002566	Intestinal malrotation
OMIM:113650	EYA1	2138	HP:0008586	Hypoplasia of the cochlea
OMIM:113650	EYA1	2138	HP:0000384	Preauricular skin tag
OMIM:113650	EYA1	2138	HP:0000175	Cleft palate
OMIM:113650	EYA1	2138	HP:0009796	Branchial cyst
OMIM:113650	SIX1	6495	HP:0000275	Narrow face
OMIM:113650	SIX1	6495	HP:0011094	Overbite
OMIM:113650	SIX1	6495	HP:0000410	Mixed hearing impairment
OMIM:113650	SIX1	6495	HP:0001425	Heterogeneous
OMIM:113650	SIX1	6495	HP:0004742	Abnormality of the renal collecting system
OMIM:113650	SIX1	6495	HP:0004712	Renal malrotation
OMIM:113650	SIX1	6495	HP:0000076	Vesicoureteral reflux
OMIM:113650	SIX1	6495	HP:0000799	Renal steatosis
OMIM:113650	SIX1	6495	HP:0000113	Polycystic kidney dysplasia
OMIM:113650	SIX1	6495	HP:0000193	Bifid uvula
OMIM:113650	SIX1	6495	HP:0002060	Abnormality of the cerebrum
OMIM:113650	SIX1	6495	HP:0001374	Congenital hip dislocation
OMIM:113650	SIX1	6495	HP:0000104	Renal agenesis
OMIM:113650	SIX1	6495	HP:0009795	Branchial fistula
OMIM:113650	SIX1	6495	HP:0000110	Renal dysplasia
OMIM:113650	SIX1	6495	HP:0000276	Long face
OMIM:113650	SIX1	6495	HP:0000691	Microdontia
OMIM:113650	SIX1	6495	HP:0003829	Incomplete penetrance
OMIM:113650	SIX1	6495	HP:0004458	Dilatated internal auditory canal
OMIM:113650	SIX1	6495	HP:0000376	Incomplete partition of the cochlea type II
OMIM:113650	SIX1	6495	HP:0003828	Variable expressivity
OMIM:113650	SIX1	6495	HP:0009798	Euthyroid goiter
OMIM:113650	SIX1	6495	HP:0100274	Gustatory lacrimation
OMIM:113650	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:113650	SIX1	6495	HP:0009797	Cholesteatoma
OMIM:113650	SIX1	6495	HP:0000218	High palate
OMIM:113650	SIX1	6495	HP:0002566	Intestinal malrotation
OMIM:113650	SIX1	6495	HP:0008586	Hypoplasia of the cochlea
OMIM:113650	SIX1	6495	HP:0000384	Preauricular skin tag
OMIM:113650	SIX1	6495	HP:0000175	Cleft palate
OMIM:113650	SIX1	6495	HP:0009796	Branchial cyst
ORPHA:1900	PLOD1	5351	HP:0000501	Glaucoma
ORPHA:1900	PLOD1	5351	HP:0000541	Retinal detachment
ORPHA:1900	PLOD1	5351	HP:0002808	Kyphosis
ORPHA:1900	PLOD1	5351	HP:0005692	Joint hyperflexibility
ORPHA:1900	PLOD1	5351	HP:0000505	Visual impairment
ORPHA:1900	PLOD1	5351	HP:0005294	Arterial dissection
ORPHA:1900	PLOD1	5351	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:1900	PLOD1	5351	HP:0002761	Generalized joint laxity
ORPHA:1900	PLOD1	5351	HP:0000563	Keratoconus
ORPHA:1900	PLOD1	5351	HP:0000974	Hyperextensible skin
ORPHA:1900	PLOD1	5351	HP:0000987	Atypical scarring of skin
ORPHA:1900	PLOD1	5351	HP:0001933	Subcutaneous hemorrhage
ORPHA:1900	PLOD1	5351	HP:0000482	Microcornea
ORPHA:1900	PLOD1	5351	HP:0002647	Aortic dissection
ORPHA:1900	PLOD1	5351	HP:0002650	Scoliosis
ORPHA:1900	PLOD1	5351	HP:0010727	Spontaneous rupture of the globe
ORPHA:1900	PLOD1	5351	HP:0000545	Myopia
ORPHA:1900	PLOD1	5351	HP:0000023	Inguinal hernia
ORPHA:1900	PLOD1	5351	HP:0000488	Retinopathy
ORPHA:1900	PLOD1	5351	HP:0001634	Mitral valve prolapse
ORPHA:1900	PLOD1	5351	HP:0001319	Neonatal hypotonia
ORPHA:1900	PLOD1	5351	HP:0003272	Abnormality of the hip bone
ORPHA:1900	PLOD1	5351	HP:0001288	Gait disturbance
OMIM:615010	ADAR	103	HP:0001263	Global developmental delay
OMIM:615010	ADAR	103	HP:0002371	Loss of speech
OMIM:615010	ADAR	103	HP:0002063	Rigidity
OMIM:615010	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:615010	ADAR	103	HP:0001337	Tremor
OMIM:615010	ADAR	103	HP:0001332	Dystonia
OMIM:615010	ADAR	103	HP:0006957	Loss of ability to walk
OMIM:276710	HPD	3242	HP:0001250	Seizures
OMIM:276710	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:276710	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:276710	HPD	3242	HP:0000007	Autosomal recessive inheritance
OMIM:276710	HPD	3242	HP:0001256	Intellectual disability, mild
OMIM:276710	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:276710	HPD	3242	HP:0001392	Abnormality of the liver
OMIM:615636	CSPP1	79848	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	CSPP1	79848	HP:0000486	Strabismus
OMIM:615636	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:615636	CSPP1	79848	HP:0001251	Ataxia
OMIM:615636	CSPP1	79848	HP:0003577	Congenital onset
OMIM:615636	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:615636	CSPP1	79848	HP:0002094	Dyspnea
OMIM:615636	CSPP1	79848	HP:0003828	Variable expressivity
OMIM:615636	CSPP1	79848	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	CSPP1	79848	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	CSPP1	79848	HP:0001249	Intellectual disability
OMIM:615636	CSPP1	79848	HP:0000508	Ptosis
OMIM:615636	CSPP1	79848	HP:0002104	Apnea
OMIM:615636	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:615636	CSPP1	79848	HP:0007291	Posterior fossa cyst
OMIM:615636	CSPP1	79848	HP:0001290	Generalized hypotonia
OMIM:603041	TYMP	1890	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:603041	TYMP	1890	HP:0000007	Autosomal recessive inheritance
OMIM:603041	TYMP	1890	HP:0003128	Lactic acidosis
OMIM:603041	TYMP	1890	HP:0003737	Mitochondrial myopathy
OMIM:603041	TYMP	1890	HP:0002027	Abdominal pain
OMIM:603041	TYMP	1890	HP:0003676	Progressive
OMIM:603041	TYMP	1890	HP:0002019	Constipation
OMIM:603041	TYMP	1890	HP:0002352	Leukoencephalopathy
OMIM:603041	TYMP	1890	HP:0000508	Ptosis
OMIM:603041	TYMP	1890	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:603041	TYMP	1890	HP:0002254	Intermittent diarrhea
OMIM:603041	TYMP	1890	HP:0000590	Progressive external ophthalmoplegia
OMIM:603041	TYMP	1890	HP:0003200	Ragged-red muscle fibers
OMIM:603041	TYMP	1890	HP:0001284	Areflexia
OMIM:603041	TYMP	1890	HP:0002460	Distal muscle weakness
OMIM:603041	TYMP	1890	HP:0002578	Gastroparesis
OMIM:603041	TYMP	1890	HP:0002936	Distal sensory impairment
OMIM:603041	TYMP	1890	HP:0002024	Malabsorption
OMIM:603041	TYMP	1890	HP:0004395	Malnutrition
OMIM:603041	TYMP	1890	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:603041	TYMP	1890	HP:0003693	Distal amyotrophy
OMIM:603041	TYMP	1890	HP:0002579	Gastrointestinal dysmotility
OMIM:603041	TYMP	1890	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:603041	TYMP	1890	HP:0100613	Death in early adulthood
OMIM:603041	TYMP	1890	HP:0000407	Sensorineural hearing impairment
OMIM:603041	TYMP	1890	HP:0004326	Cachexia
OMIM:603041	TYMP	1890	HP:0002013	Vomiting
OMIM:603041	POLG	5428	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:603041	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:603041	POLG	5428	HP:0003128	Lactic acidosis
OMIM:603041	POLG	5428	HP:0003737	Mitochondrial myopathy
OMIM:603041	POLG	5428	HP:0002027	Abdominal pain
OMIM:603041	POLG	5428	HP:0003676	Progressive
OMIM:603041	POLG	5428	HP:0002019	Constipation
OMIM:603041	POLG	5428	HP:0002352	Leukoencephalopathy
OMIM:603041	POLG	5428	HP:0000508	Ptosis
OMIM:603041	POLG	5428	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:603041	POLG	5428	HP:0002254	Intermittent diarrhea
OMIM:603041	POLG	5428	HP:0000590	Progressive external ophthalmoplegia
OMIM:603041	POLG	5428	HP:0003200	Ragged-red muscle fibers
OMIM:603041	POLG	5428	HP:0001284	Areflexia
OMIM:603041	POLG	5428	HP:0002460	Distal muscle weakness
OMIM:603041	POLG	5428	HP:0002578	Gastroparesis
OMIM:603041	POLG	5428	HP:0002936	Distal sensory impairment
OMIM:603041	POLG	5428	HP:0002024	Malabsorption
OMIM:603041	POLG	5428	HP:0004395	Malnutrition
OMIM:603041	POLG	5428	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:603041	POLG	5428	HP:0003693	Distal amyotrophy
OMIM:603041	POLG	5428	HP:0002579	Gastrointestinal dysmotility
OMIM:603041	POLG	5428	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:603041	POLG	5428	HP:0100613	Death in early adulthood
OMIM:603041	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:603041	POLG	5428	HP:0004326	Cachexia
OMIM:603041	POLG	5428	HP:0002013	Vomiting
ORPHA:85167	PCYT1A	5130	HP:0000545	Myopia
ORPHA:85167	PCYT1A	5130	HP:0000772	Abnormality of the ribs
ORPHA:85167	PCYT1A	5130	HP:0003184	Decreased hip abduction
ORPHA:85167	PCYT1A	5130	HP:0000639	Nystagmus
ORPHA:85167	PCYT1A	5130	HP:0001129	Large central visual field defect
ORPHA:85167	PCYT1A	5130	HP:0003307	Hyperlordosis
ORPHA:85167	PCYT1A	5130	HP:0000572	Visual loss
ORPHA:85167	PCYT1A	5130	HP:0000926	Platyspondyly
ORPHA:85167	PCYT1A	5130	HP:0007994	Peripheral visual field loss
ORPHA:85167	PCYT1A	5130	HP:0000613	Photophobia
ORPHA:85167	PCYT1A	5130	HP:0002650	Scoliosis
ORPHA:85167	PCYT1A	5130	HP:0007730	Iris hypopigmentation
ORPHA:85167	PCYT1A	5130	HP:0000483	Astigmatism
ORPHA:85167	PCYT1A	5130	HP:0003021	Metaphyseal cupping
ORPHA:85167	PCYT1A	5130	HP:0006487	Bowing of the long bones
ORPHA:85167	PCYT1A	5130	HP:0000551	Abnormality of color vision
ORPHA:85167	PCYT1A	5130	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:85167	PCYT1A	5130	HP:0003510	Severe short stature
ORPHA:85167	PCYT1A	5130	HP:0008905	Rhizomelia
ORPHA:85167	PCYT1A	5130	HP:0000548	Cone/cone-rod dystrophy
ORPHA:85167	PCYT1A	5130	HP:0000662	Nyctalopia
ORPHA:85167	PCYT1A	5130	HP:0008499	High-grade hypermetropia
ORPHA:170	LPAR6	10161	HP:0002224	Woolly hair
ORPHA:170	LPAR6	10161	HP:0002213	Fine hair
ORPHA:170	LPAR6	10161	HP:0002217	Slow-growing hair
ORPHA:170	LPAR6	10161	HP:0002299	Brittle hair
ORPHA:170	LPAR6	10161	HP:0005599	Hypopigmentation of hair
ORPHA:170	KRT71	112802	HP:0002224	Woolly hair
ORPHA:170	KRT71	112802	HP:0002213	Fine hair
ORPHA:170	KRT71	112802	HP:0002217	Slow-growing hair
ORPHA:170	KRT71	112802	HP:0002299	Brittle hair
ORPHA:170	KRT71	112802	HP:0005599	Hypopigmentation of hair
ORPHA:170	LIPH	200879	HP:0002224	Woolly hair
ORPHA:170	LIPH	200879	HP:0002213	Fine hair
ORPHA:170	LIPH	200879	HP:0002217	Slow-growing hair
ORPHA:170	LIPH	200879	HP:0002299	Brittle hair
ORPHA:170	LIPH	200879	HP:0005599	Hypopigmentation of hair
ORPHA:170	KRT25	147183	HP:0002224	Woolly hair
ORPHA:170	KRT25	147183	HP:0002213	Fine hair
ORPHA:170	KRT25	147183	HP:0002217	Slow-growing hair
ORPHA:170	KRT25	147183	HP:0002299	Brittle hair
ORPHA:170	KRT25	147183	HP:0005599	Hypopigmentation of hair
ORPHA:170	KRT74	121391	HP:0002224	Woolly hair
ORPHA:170	KRT74	121391	HP:0002213	Fine hair
ORPHA:170	KRT74	121391	HP:0002217	Slow-growing hair
ORPHA:170	KRT74	121391	HP:0002299	Brittle hair
ORPHA:170	KRT74	121391	HP:0005599	Hypopigmentation of hair
OMIM:608931	GFPT1	2673	HP:0000218	High palate
OMIM:608931	GFPT1	2673	HP:0003391	Gowers sign
OMIM:608931	GFPT1	2673	HP:0003473	Fatigable weakness
OMIM:608931	GFPT1	2673	HP:0000276	Long face
OMIM:608931	GFPT1	2673	HP:0000508	Ptosis
OMIM:608931	GFPT1	2673	HP:0000597	Ophthalmoparesis
OMIM:608931	GFPT1	2673	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:608931	GFPT1	2673	HP:0003828	Variable expressivity
OMIM:608931	GFPT1	2673	HP:0000486	Strabismus
OMIM:608931	GFPT1	2673	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	GFPT1	2673	HP:0001612	Weak cry
OMIM:608931	GFPT1	2673	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	GFPT1	2673	HP:0003443	Decreased size of nerve terminals
OMIM:608931	GFPT1	2673	HP:0003199	Decreased muscle mass
OMIM:608931	GFPT1	2673	HP:0001260	Dysarthria
OMIM:608931	GFPT1	2673	HP:0010628	Facial palsy
OMIM:608931	GFPT1	2673	HP:0003202	Skeletal muscle atrophy
OMIM:608931	GFPT1	2673	HP:0000689	Dental malocclusion
OMIM:608931	GFPT1	2673	HP:0000303	Mandibular prognathia
OMIM:608931	GFPT1	2673	HP:0000007	Autosomal recessive inheritance
OMIM:608931	GFPT1	2673	HP:0002715	Abnormality of the immune system
OMIM:608931	GFPT1	2673	HP:0001290	Generalized hypotonia
OMIM:608931	GFPT1	2673	HP:0001270	Motor delay
OMIM:608931	GFPT1	2673	HP:0001558	Decreased fetal movement
OMIM:608931	GFPT1	2673	HP:0011968	Feeding difficulties
OMIM:608931	GFPT1	2673	HP:0003593	Infantile onset
OMIM:608931	GFPT1	2673	HP:0002015	Dysphagia
OMIM:608931	GFPT1	2673	HP:0003394	Muscle cramps
OMIM:608931	GFPT1	2673	HP:0003554	Type 2 muscle fiber atrophy
OMIM:608931	GFPT1	2673	HP:0001252	Muscular hypotonia
OMIM:608931	GFPT1	2673	HP:0003388	Easy fatigability
OMIM:608931	GFPT1	2673	HP:0003680	Nonprogressive
OMIM:608931	CHRNE	1145	HP:0000218	High palate
OMIM:608931	CHRNE	1145	HP:0003391	Gowers sign
OMIM:608931	CHRNE	1145	HP:0003473	Fatigable weakness
OMIM:608931	CHRNE	1145	HP:0000276	Long face
OMIM:608931	CHRNE	1145	HP:0000508	Ptosis
OMIM:608931	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:608931	CHRNE	1145	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:608931	CHRNE	1145	HP:0003828	Variable expressivity
OMIM:608931	CHRNE	1145	HP:0000486	Strabismus
OMIM:608931	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	CHRNE	1145	HP:0001612	Weak cry
OMIM:608931	CHRNE	1145	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	CHRNE	1145	HP:0003443	Decreased size of nerve terminals
OMIM:608931	CHRNE	1145	HP:0003199	Decreased muscle mass
OMIM:608931	CHRNE	1145	HP:0001260	Dysarthria
OMIM:608931	CHRNE	1145	HP:0010628	Facial palsy
OMIM:608931	CHRNE	1145	HP:0003202	Skeletal muscle atrophy
OMIM:608931	CHRNE	1145	HP:0000689	Dental malocclusion
OMIM:608931	CHRNE	1145	HP:0000303	Mandibular prognathia
OMIM:608931	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:608931	CHRNE	1145	HP:0002715	Abnormality of the immune system
OMIM:608931	CHRNE	1145	HP:0001290	Generalized hypotonia
OMIM:608931	CHRNE	1145	HP:0001270	Motor delay
OMIM:608931	CHRNE	1145	HP:0001558	Decreased fetal movement
OMIM:608931	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:608931	CHRNE	1145	HP:0003593	Infantile onset
OMIM:608931	CHRNE	1145	HP:0002015	Dysphagia
OMIM:608931	CHRNE	1145	HP:0003394	Muscle cramps
OMIM:608931	CHRNE	1145	HP:0003554	Type 2 muscle fiber atrophy
OMIM:608931	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:608931	CHRNE	1145	HP:0003388	Easy fatigability
OMIM:608931	CHRNE	1145	HP:0003680	Nonprogressive
ORPHA:2199	KRT9	3857	HP:0000964	Eczema
ORPHA:2199	KRT9	3857	HP:0001231	Abnormality of the fingernails
ORPHA:2199	KRT9	3857	HP:0000975	Hyperhidrosis
ORPHA:2199	KRT9	3857	HP:0000982	Palmoplantar keratoderma
ORPHA:2199	KRT9	3857	HP:0200043	Verrucae
ORPHA:2199	KRT9	3857	HP:0007559	Localized epidermolytic hyperkeratosis
ORPHA:2199	KRT9	3857	HP:0010783	Erythema
ORPHA:2199	KRT1	3848	HP:0000964	Eczema
ORPHA:2199	KRT1	3848	HP:0001231	Abnormality of the fingernails
ORPHA:2199	KRT1	3848	HP:0000975	Hyperhidrosis
ORPHA:2199	KRT1	3848	HP:0000982	Palmoplantar keratoderma
ORPHA:2199	KRT1	3848	HP:0200043	Verrucae
ORPHA:2199	KRT1	3848	HP:0007559	Localized epidermolytic hyperkeratosis
ORPHA:2199	KRT1	3848	HP:0010783	Erythema
ORPHA:2199	KRT16	3868	HP:0000964	Eczema
ORPHA:2199	KRT16	3868	HP:0001231	Abnormality of the fingernails
ORPHA:2199	KRT16	3868	HP:0000975	Hyperhidrosis
ORPHA:2199	KRT16	3868	HP:0000982	Palmoplantar keratoderma
ORPHA:2199	KRT16	3868	HP:0200043	Verrucae
ORPHA:2199	KRT16	3868	HP:0007559	Localized epidermolytic hyperkeratosis
ORPHA:2199	KRT16	3868	HP:0010783	Erythema
OMIM:614303	MIR184	406960	HP:0007663	Reduced visual acuity
OMIM:614303	MIR184	406960	HP:0007676	Hypoplasia of the iris
OMIM:614303	MIR184	406960	HP:0000519	Congenital cataract
OMIM:614303	MIR184	406960	HP:0000505	Visual impairment
OMIM:614303	MIR184	406960	HP:0000482	Microcornea
OMIM:614303	MIR184	406960	HP:0000006	Autosomal dominant inheritance
OMIM:614303	MIR184	406960	HP:0000483	Astigmatism
OMIM:602459	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:602459	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:610755	CDKN1B	1027	HP:0002893	Pituitary adenoma
OMIM:610755	CDKN1B	1027	HP:0100570	Carcinoid tumor
OMIM:610755	CDKN1B	1027	HP:0000006	Autosomal dominant inheritance
OMIM:610755	CDKN1B	1027	HP:0000845	Growth hormone excess
OMIM:610755	CDKN1B	1027	HP:0002897	Parathyroid adenoma
OMIM:610755	CDKN1B	1027	HP:0006772	Renal angiomyolipoma
OMIM:611762	NLRP12	91662	HP:0002315	Headache
OMIM:611762	NLRP12	91662	HP:0002027	Abdominal pain
OMIM:611762	NLRP12	91662	HP:0000006	Autosomal dominant inheritance
OMIM:611762	NLRP12	91662	HP:0003326	Myalgia
OMIM:611762	NLRP12	91662	HP:0011227	Elevated C-reactive protein level
OMIM:611762	NLRP12	91662	HP:0003812	Phenotypic variability
OMIM:611762	NLRP12	91662	HP:0000407	Sensorineural hearing impairment
OMIM:611762	NLRP12	91662	HP:0000988	Skin rash
OMIM:611762	NLRP12	91662	HP:0003593	Infantile onset
OMIM:611762	NLRP12	91662	HP:0011107	Recurrent aphthous stomatitis
OMIM:611762	NLRP12	91662	HP:0001025	Urticaria
OMIM:611762	NLRP12	91662	HP:0001954	Episodic fever
OMIM:611762	NLRP12	91662	HP:0002829	Arthralgia
ORPHA:167	LYST	1130	HP:0001263	Global developmental delay
ORPHA:167	LYST	1130	HP:0000225	Gingival bleeding
ORPHA:167	LYST	1130	HP:0001744	Splenomegaly
ORPHA:167	LYST	1130	HP:0000969	Edema
ORPHA:167	LYST	1130	HP:0011364	White hair
ORPHA:167	LYST	1130	HP:0001875	Neutropenia
ORPHA:167	LYST	1130	HP:0100838	Recurrent cutaneous abscess formation
ORPHA:167	LYST	1130	HP:0200042	Skin ulcer
ORPHA:167	LYST	1130	HP:0001903	Anemia
ORPHA:167	LYST	1130	HP:0000978	Bruising susceptibility
ORPHA:167	LYST	1130	HP:0001250	Seizures
ORPHA:167	LYST	1130	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
ORPHA:167	LYST	1130	HP:0001873	Thrombocytopenia
ORPHA:167	LYST	1130	HP:0000704	Periodontitis
ORPHA:167	LYST	1130	HP:0000639	Nystagmus
ORPHA:167	LYST	1130	HP:0000613	Photophobia
ORPHA:167	LYST	1130	HP:0002721	Immunodeficiency
ORPHA:167	LYST	1130	HP:0007730	Iris hypopigmentation
ORPHA:167	LYST	1130	HP:0000421	Epistaxis
ORPHA:167	LYST	1130	HP:0002665	Lymphoma
ORPHA:167	LYST	1130	HP:0002716	Lymphadenopathy
ORPHA:167	LYST	1130	HP:0001337	Tremor
ORPHA:167	LYST	1130	HP:0002240	Hepatomegaly
ORPHA:167	LYST	1130	HP:0003401	Paresthesia
ORPHA:167	LYST	1130	HP:0002205	Recurrent respiratory infections
ORPHA:167	LYST	1130	HP:0007513	Generalized hypopigmentation
ORPHA:167	LYST	1130	HP:0001284	Areflexia
ORPHA:167	LYST	1130	HP:0000646	Amblyopia
ORPHA:167	LYST	1130	HP:0001945	Fever
OMIM:617301	SLC6A9	6536	HP:0003577	Congenital onset
OMIM:617301	SLC6A9	6536	HP:0001263	Global developmental delay
OMIM:617301	SLC6A9	6536	HP:0002119	Ventriculomegaly
OMIM:617301	SLC6A9	6536	HP:0001388	Joint laxity
OMIM:617301	SLC6A9	6536	HP:0000463	Anteverted nares
OMIM:617301	SLC6A9	6536	HP:0000369	Low-set ears
OMIM:617301	SLC6A9	6536	HP:0000278	Retrognathia
OMIM:617301	SLC6A9	6536	HP:0002987	Elbow flexion contracture
OMIM:617301	SLC6A9	6536	HP:0000007	Autosomal recessive inheritance
OMIM:617301	SLC6A9	6536	HP:0002058	Myopathic facies
OMIM:617301	SLC6A9	6536	HP:0000243	Trigonocephaly
OMIM:617301	SLC6A9	6536	HP:0001762	Talipes equinovarus
OMIM:617301	SLC6A9	6536	HP:0002015	Dysphagia
OMIM:617301	SLC6A9	6536	HP:0001298	Encephalopathy
OMIM:617301	SLC6A9	6536	HP:0002104	Apnea
OMIM:617301	SLC6A9	6536	HP:0002827	Hip dislocation
OMIM:617301	SLC6A9	6536	HP:0001276	Hypertonia
OMIM:617301	SLC6A9	6536	HP:0002267	Exaggerated startle response
OMIM:617301	SLC6A9	6536	HP:0005280	Depressed nasal bridge
OMIM:617301	SLC6A9	6536	HP:0002804	Arthrogryposis multiplex congenita
OMIM:617301	SLC6A9	6536	HP:0003273	Hip contracture
OMIM:181430	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:181430	MYH7	4625	HP:0003677	Slow progression
OMIM:181430	MYH7	4625	HP:0009054	Scapuloperoneal myopathy
OMIM:181430	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:181430	MYH7	4625	HP:0030319	Weakness of facial musculature
ORPHA:166024	KIF7	374654	HP:0001513	Obesity
ORPHA:166024	KIF7	374654	HP:0005930	Abnormality of epiphysis morphology
ORPHA:166024	KIF7	374654	HP:0001373	Joint dislocation
ORPHA:166024	KIF7	374654	HP:0002758	Osteoarthritis
ORPHA:166024	KIF7	374654	HP:0006101	Finger syndactyly
ORPHA:166024	KIF7	374654	HP:0000272	Malar flattening
ORPHA:166024	KIF7	374654	HP:0000767	Pectus excavatum
ORPHA:166024	KIF7	374654	HP:0012444	Brain atrophy
ORPHA:166024	KIF7	374654	HP:0001274	Agenesis of corpus callosum
ORPHA:166024	KIF7	374654	HP:0002007	Frontal bossing
ORPHA:166024	KIF7	374654	HP:0000369	Low-set ears
ORPHA:166024	KIF7	374654	HP:0030084	Clinodactyly
ORPHA:166024	KIF7	374654	HP:0000470	Short neck
ORPHA:166024	KIF7	374654	HP:0002857	Genu valgum
ORPHA:166024	KIF7	374654	HP:0000256	Macrocephaly
ORPHA:166024	KIF7	374654	HP:0000316	Hypertelorism
ORPHA:247604	ERLIN2	11160	HP:0002064	Spastic gait
ORPHA:247604	ERLIN2	11160	HP:0001347	Hyperreflexia
ORPHA:247604	ERLIN2	11160	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:247604	ERLIN2	11160	HP:0002464	Spastic dysarthria
ORPHA:247604	ERLIN2	11160	HP:0007256	Abnormal pyramidal signs
ORPHA:247604	ERLIN2	11160	HP:0001285	Spastic tetraparesis
ORPHA:247604	ERLIN2	11160	HP:0002371	Loss of speech
ORPHA:247604	ERLIN2	11160	HP:0001324	Muscle weakness
ORPHA:247604	ERLIN2	11160	HP:0002141	Gait imbalance
ORPHA:247604	ERLIN2	11160	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:247604	ERLIN2	11160	HP:0002015	Dysphagia
ORPHA:247604	ALS2	57679	HP:0002064	Spastic gait
ORPHA:247604	ALS2	57679	HP:0001347	Hyperreflexia
ORPHA:247604	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:247604	ALS2	57679	HP:0002464	Spastic dysarthria
ORPHA:247604	ALS2	57679	HP:0007256	Abnormal pyramidal signs
ORPHA:247604	ALS2	57679	HP:0001285	Spastic tetraparesis
ORPHA:247604	ALS2	57679	HP:0002371	Loss of speech
ORPHA:247604	ALS2	57679	HP:0001324	Muscle weakness
ORPHA:247604	ALS2	57679	HP:0002141	Gait imbalance
ORPHA:247604	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:247604	ALS2	57679	HP:0002015	Dysphagia
ORPHA:33226	MYD88	4615	HP:0000980	Pallor
ORPHA:33226	MYD88	4615	HP:0001909	Leukemia
ORPHA:33226	MYD88	4615	HP:0000225	Gingival bleeding
ORPHA:33226	MYD88	4615	HP:0001874	Abnormality of neutrophils
ORPHA:33226	MYD88	4615	HP:0002093	Respiratory insufficiency
ORPHA:33226	MYD88	4615	HP:0002321	Vertigo
ORPHA:33226	MYD88	4615	HP:0002665	Lymphoma
ORPHA:33226	MYD88	4615	HP:0005508	Monoclonal immunoglobulin M proteinemia
ORPHA:33226	MYD88	4615	HP:0001897	Normocytic anemia
ORPHA:33226	MYD88	4615	HP:0100724	Hypercoagulability
OMIM:615962	NR3C1	2908	HP:0200114	Metabolic alkalosis
OMIM:615962	NR3C1	2908	HP:0000006	Autosomal dominant inheritance
OMIM:615962	NR3C1	2908	HP:0001943	Hypoglycemia
OMIM:615962	NR3C1	2908	HP:0000822	Hypertension
OMIM:615962	NR3C1	2908	HP:0001007	Hirsutism
OMIM:615962	NR3C1	2908	HP:0012378	Fatigue
OMIM:615837	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:615837	GRXCR2	643226	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:301310	ABCB7	22	HP:0001260	Dysarthria
OMIM:301310	ABCB7	22	HP:0002470	Nonprogressive cerebellar ataxia
OMIM:301310	ABCB7	22	HP:0001419	X-linked recessive inheritance
OMIM:301310	ABCB7	22	HP:0003487	Babinski sign
OMIM:301310	ABCB7	22	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301310	ABCB7	22	HP:0002075	Dysdiadochokinesis
OMIM:301310	ABCB7	22	HP:0002169	Clonus
OMIM:301310	ABCB7	22	HP:0003621	Juvenile onset
OMIM:301310	ABCB7	22	HP:0001924	Sideroblastic anemia
OMIM:301310	ABCB7	22	HP:0001310	Dysmetria
OMIM:301310	ABCB7	22	HP:0004840	Hypochromic microcytic anemia
OMIM:301310	ABCB7	22	HP:0002080	Intention tremor
ORPHA:2078	PYCR1	5831	HP:0002650	Scoliosis
ORPHA:2078	PYCR1	5831	HP:0002953	Vertebral compression fractures
ORPHA:2078	PYCR1	5831	HP:0000974	Hyperextensible skin
ORPHA:2078	PYCR1	5831	HP:0000963	Thin skin
ORPHA:2078	PYCR1	5831	HP:0002757	Recurrent fractures
ORPHA:2078	PYCR1	5831	HP:0003510	Severe short stature
ORPHA:2078	PYCR1	5831	HP:0000939	Osteoporosis
ORPHA:2078	PYCR1	5831	HP:0001582	Redundant skin
ORPHA:2078	PYCR1	5831	HP:0002827	Hip dislocation
ORPHA:2078	PYCR1	5831	HP:0001252	Muscular hypotonia
ORPHA:2078	PYCR1	5831	HP:0004586	Biconcave vertebral bodies
ORPHA:2078	PYCR1	5831	HP:0004568	Beaking of vertebral bodies
ORPHA:2078	PYCR1	5831	HP:0005692	Joint hyperflexibility
ORPHA:2078	GORAB	92344	HP:0002650	Scoliosis
ORPHA:2078	GORAB	92344	HP:0002953	Vertebral compression fractures
ORPHA:2078	GORAB	92344	HP:0000974	Hyperextensible skin
ORPHA:2078	GORAB	92344	HP:0000963	Thin skin
ORPHA:2078	GORAB	92344	HP:0002757	Recurrent fractures
ORPHA:2078	GORAB	92344	HP:0003510	Severe short stature
ORPHA:2078	GORAB	92344	HP:0000939	Osteoporosis
ORPHA:2078	GORAB	92344	HP:0001582	Redundant skin
ORPHA:2078	GORAB	92344	HP:0002827	Hip dislocation
ORPHA:2078	GORAB	92344	HP:0001252	Muscular hypotonia
ORPHA:2078	GORAB	92344	HP:0004586	Biconcave vertebral bodies
ORPHA:2078	GORAB	92344	HP:0004568	Beaking of vertebral bodies
ORPHA:2078	GORAB	92344	HP:0005692	Joint hyperflexibility
OMIM:300486	OPHN1	4983	HP:0000046	Scrotal hypoplasia
OMIM:300486	OPHN1	4983	HP:0000028	Cryptorchidism
OMIM:300486	OPHN1	4983	HP:0000752	Hyperactivity
OMIM:300486	OPHN1	4983	HP:0000639	Nystagmus
OMIM:300486	OPHN1	4983	HP:0007065	Disorganization of the anterior cerebellar vermis
OMIM:300486	OPHN1	4983	HP:0002007	Frontal bossing
OMIM:300486	OPHN1	4983	HP:0000219	Thin upper lip vermilion
OMIM:300486	OPHN1	4983	HP:0001290	Generalized hypotonia
OMIM:300486	OPHN1	4983	HP:0000490	Deeply set eye
OMIM:300486	OPHN1	4983	HP:0001249	Intellectual disability
OMIM:300486	OPHN1	4983	HP:0000054	Micropenis
OMIM:300486	OPHN1	4983	HP:0002280	Enlarged cisterna magna
OMIM:300486	OPHN1	4983	HP:0001419	X-linked recessive inheritance
OMIM:300486	OPHN1	4983	HP:0000256	Macrocephaly
OMIM:300486	OPHN1	4983	HP:0001250	Seizures
OMIM:300486	OPHN1	4983	HP:0000303	Mandibular prognathia
OMIM:300486	OPHN1	4983	HP:0000336	Prominent supraorbital ridges
OMIM:300486	OPHN1	4983	HP:0000601	Hypotelorism
OMIM:300486	OPHN1	4983	HP:0001257	Spasticity
OMIM:300486	OPHN1	4983	HP:0003593	Infantile onset
OMIM:300486	OPHN1	4983	HP:0011220	Prominent forehead
OMIM:300486	OPHN1	4983	HP:0000322	Short philtrum
OMIM:300486	OPHN1	4983	HP:0001263	Global developmental delay
OMIM:300486	OPHN1	4983	HP:0006951	Retrocerebellar cyst
OMIM:300486	OPHN1	4983	HP:0000750	Delayed speech and language development
OMIM:300486	OPHN1	4983	HP:0001321	Cerebellar hypoplasia
OMIM:300486	OPHN1	4983	HP:0000486	Strabismus
OMIM:300486	OPHN1	4983	HP:0000276	Long face
OMIM:300486	OPHN1	4983	HP:0000400	Macrotia
OMIM:300486	OPHN1	4983	HP:0003189	Long nose
OMIM:300486	OPHN1	4983	HP:0002066	Gait ataxia
OMIM:300486	OPHN1	4983	HP:0030260	Microphallus
OMIM:277440	VDR	7421	HP:0000737	Irritability
OMIM:277440	VDR	7421	HP:0005469	Flat occiput
OMIM:277440	VDR	7421	HP:0002653	Bone pain
OMIM:277440	VDR	7421	HP:0002753	Thin bony cortex
OMIM:277440	VDR	7421	HP:0003025	Metaphyseal irregularity
OMIM:277440	VDR	7421	HP:0001508	Failure to thrive
OMIM:277440	VDR	7421	HP:0002752	Sparse bone trabeculae
OMIM:277440	VDR	7421	HP:0003593	Infantile onset
OMIM:277440	VDR	7421	HP:0002980	Femoral bowing
OMIM:277440	VDR	7421	HP:0006297	Hypoplasia of dental enamel
OMIM:277440	VDR	7421	HP:0002007	Frontal bossing
OMIM:277440	VDR	7421	HP:0003152	Increased serum 1,25-dihydroxyvitamin D3
OMIM:277440	VDR	7421	HP:0000670	Carious teeth
OMIM:277440	VDR	7421	HP:0002663	Delayed epiphyseal ossification
OMIM:277440	VDR	7421	HP:0000867	Secondary hyperparathyroidism
OMIM:277440	VDR	7421	HP:0001270	Motor delay
OMIM:277440	VDR	7421	HP:0002355	Difficulty walking
OMIM:277440	VDR	7421	HP:0003155	Elevated alkaline phosphatase
OMIM:277440	VDR	7421	HP:0002199	Hypocalcemic seizures
OMIM:277440	VDR	7421	HP:0000951	Abnormality of the skin
OMIM:277440	VDR	7421	HP:0002748	Rickets
OMIM:277440	VDR	7421	HP:0003020	Enlargement of the wrists
OMIM:277440	VDR	7421	HP:0010502	Fibular bowing
OMIM:277440	VDR	7421	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:277440	VDR	7421	HP:0004492	Widely patent fontanelles and sutures
OMIM:277440	VDR	7421	HP:0000893	Bulging of the costochondral junction
OMIM:277440	VDR	7421	HP:0009023	Abdominal wall muscle weakness
OMIM:277440	VDR	7421	HP:0003029	Enlargement of the ankles
OMIM:277440	VDR	7421	HP:0000684	Delayed eruption of teeth
OMIM:277440	VDR	7421	HP:0002982	Tibial bowing
OMIM:277440	VDR	7421	HP:0000886	Deformed rib cage
OMIM:277440	VDR	7421	HP:0001538	Protuberant abdomen
OMIM:277440	VDR	7421	HP:0002148	Hypophosphatemia
OMIM:277440	VDR	7421	HP:0003106	Subperiosteal bone resorption
OMIM:277440	VDR	7421	HP:0003698	Difficulty standing
OMIM:277440	VDR	7421	HP:0001290	Generalized hypotonia
OMIM:277440	VDR	7421	HP:0002757	Recurrent fractures
OMIM:277440	VDR	7421	HP:0002979	Bowing of the legs
OMIM:277440	VDR	7421	HP:0003013	Bulging epiphyses
OMIM:277440	VDR	7421	HP:0000007	Autosomal recessive inheritance
OMIM:277440	VDR	7421	HP:0001510	Growth delay
OMIM:277440	VDR	7421	HP:0002289	Alopecia universalis
ORPHA:342	MEFV	4210	HP:0100749	Chest pain
ORPHA:342	MEFV	4210	HP:0001250	Seizures
ORPHA:342	MEFV	4210	HP:0002829	Arthralgia
ORPHA:342	MEFV	4210	HP:0002019	Constipation
ORPHA:342	MEFV	4210	HP:0002017	Nausea and vomiting
ORPHA:342	MEFV	4210	HP:0010783	Erythema
ORPHA:342	MEFV	4210	HP:0000093	Proteinuria
ORPHA:342	MEFV	4210	HP:0002014	Diarrhea
ORPHA:342	MEFV	4210	HP:0002102	Pleuritis
ORPHA:342	MEFV	4210	HP:0001055	Erysipelas
ORPHA:342	MEFV	4210	HP:0001945	Fever
ORPHA:342	MEFV	4210	HP:0002027	Abdominal pain
ORPHA:342	MEFV	4210	HP:0002745	Oral leukoplakia
ORPHA:342	MEFV	4210	HP:0003326	Myalgia
ORPHA:342	MEFV	4210	HP:0001369	Arthritis
OMIM:614840	TACR3	6870	HP:0000054	Micropenis
OMIM:614840	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614840	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614840	TACR3	6870	HP:0008197	Absence of pubertal development
OMIM:614840	TACR3	6870	HP:0030260	Microphallus
OMIM:614840	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:614840	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:217085	WDPCP	51057	HP:0001674	Complete atrioventricular canal defect
OMIM:217085	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:217085	WDPCP	51057	HP:0011802	Hamartoma of tongue
OMIM:217085	WDPCP	51057	HP:0001680	Coarctation of aorta
OMIM:217085	WDPCP	51057	HP:0001233	2-3 finger syndactyly
OMIM:217085	WDPCP	51057	HP:0001682	Subvalvular aortic stenosis
OMIM:217085	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:217085	WDPCP	51057	HP:0010055	Broad hallux
OMIM:226300	CD55	1604	HP:0002639	Budd-Chiari syndrome
OMIM:226300	CD55	1604	HP:0000007	Autosomal recessive inheritance
OMIM:226300	CD55	1604	HP:0001891	Iron deficiency anemia
OMIM:226300	CD55	1604	HP:0002027	Abdominal pain
OMIM:226300	CD55	1604	HP:0000969	Edema
OMIM:226300	CD55	1604	HP:0001217	Clubbing
OMIM:226300	CD55	1604	HP:0003075	Hypoproteinemia
OMIM:226300	CD55	1604	HP:0001510	Growth delay
OMIM:226300	CD55	1604	HP:0001541	Ascites
OMIM:226300	CD55	1604	HP:0002242	Abnormality of the intestine
OMIM:226300	CD55	1604	HP:0002014	Diarrhea
ORPHA:230839	TNXB	7148	HP:0012378	Fatigue
ORPHA:230839	TNXB	7148	HP:0003701	Proximal muscle weakness
ORPHA:230839	TNXB	7148	HP:0001252	Muscular hypotonia
ORPHA:230839	TNXB	7148	HP:0005692	Joint hyperflexibility
ORPHA:230839	TNXB	7148	HP:0000763	Sensory neuropathy
ORPHA:230839	TNXB	7148	HP:0000974	Hyperextensible skin
ORPHA:230839	TNXB	7148	HP:0000978	Bruising susceptibility
ORPHA:230839	TNXB	7148	HP:0000963	Thin skin
ORPHA:230839	TNXB	7148	HP:0003202	Skeletal muscle atrophy
ORPHA:230839	TNXB	7148	HP:0003326	Myalgia
ORPHA:230839	TNXB	7148	HP:0002829	Arthralgia
OMIM:253600	CAPN3	825	HP:0002312	Clumsiness
OMIM:253600	CAPN3	825	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253600	CAPN3	825	HP:0000007	Autosomal recessive inheritance
OMIM:253600	CAPN3	825	HP:0001880	Eosinophilia
OMIM:253600	CAPN3	825	HP:0001371	Flexion contracture
OMIM:253600	CAPN3	825	HP:0007126	Proximal amyotrophy
OMIM:253600	CAPN3	825	HP:0002355	Difficulty walking
OMIM:253600	CAPN3	825	HP:0003691	Scapular winging
OMIM:253600	CAPN3	825	HP:0003560	Muscular dystrophy
OMIM:600224	SPTBN2	6712	HP:0001272	Cerebellar atrophy
OMIM:600224	SPTBN2	6712	HP:0007772	Impaired smooth pursuit
OMIM:600224	SPTBN2	6712	HP:0100543	Cognitive impairment
OMIM:600224	SPTBN2	6712	HP:0000640	Gaze-evoked nystagmus
OMIM:600224	SPTBN2	6712	HP:0002070	Limb ataxia
OMIM:600224	SPTBN2	6712	HP:0002495	Impaired vibratory sensation
OMIM:600224	SPTBN2	6712	HP:0000006	Autosomal dominant inheritance
OMIM:600224	SPTBN2	6712	HP:0002075	Dysdiadochokinesis
OMIM:600224	SPTBN2	6712	HP:0001260	Dysarthria
OMIM:600224	SPTBN2	6712	HP:0002080	Intention tremor
OMIM:600224	SPTBN2	6712	HP:0000317	Facial myokymia
OMIM:600224	SPTBN2	6712	HP:0001310	Dysmetria
OMIM:600224	SPTBN2	6712	HP:0002066	Gait ataxia
OMIM:600224	SPTBN2	6712	HP:0003677	Slow progression
OMIM:600224	SPTBN2	6712	HP:0001347	Hyperreflexia
OMIM:600224	SPTBN2	6712	HP:0002311	Incoordination
OMIM:610253	EHMT1	79813	HP:0000582	Upslanted palpebral fissure
OMIM:610253	EHMT1	79813	HP:0001249	Intellectual disability
OMIM:610253	EHMT1	79813	HP:0000718	Aggressive behavior
OMIM:610253	EHMT1	79813	HP:0000248	Brachycephaly
OMIM:610253	EHMT1	79813	HP:0000303	Mandibular prognathia
OMIM:610253	EHMT1	79813	HP:0010864	Intellectual disability, severe
OMIM:610253	EHMT1	79813	HP:0000047	Hypospadias
OMIM:610253	EHMT1	79813	HP:0002360	Sleep disturbance
OMIM:610253	EHMT1	79813	HP:0003745	Sporadic
OMIM:610253	EHMT1	79813	HP:0010806	U-Shaped upper lip vermilion
OMIM:610253	EHMT1	79813	HP:0011800	Midface retrusion
OMIM:610253	EHMT1	79813	HP:0000028	Cryptorchidism
OMIM:610253	EHMT1	79813	HP:0001513	Obesity
OMIM:610253	EHMT1	79813	HP:0000733	Stereotypy
OMIM:610253	EHMT1	79813	HP:0000280	Coarse facial features
OMIM:610253	EHMT1	79813	HP:0002205	Recurrent respiratory infections
OMIM:610253	EHMT1	79813	HP:0001252	Muscular hypotonia
OMIM:610253	EHMT1	79813	HP:0012368	Flat face
OMIM:610253	EHMT1	79813	HP:0000717	Autism
OMIM:610253	EHMT1	79813	HP:0000232	Everted lower lip vermilion
OMIM:610253	EHMT1	79813	HP:0001290	Generalized hypotonia
OMIM:610253	EHMT1	79813	HP:0000722	Obsessive-compulsive behavior
OMIM:610253	EHMT1	79813	HP:0000272	Malar flattening
OMIM:610253	EHMT1	79813	HP:0001156	Brachydactyly
OMIM:610253	EHMT1	79813	HP:0000463	Anteverted nares
OMIM:610253	EHMT1	79813	HP:0000054	Micropenis
OMIM:610253	EHMT1	79813	HP:0000158	Macroglossia
OMIM:610253	EHMT1	79813	HP:0000954	Single transverse palmar crease
OMIM:610253	EHMT1	79813	HP:0010808	Protruding tongue
OMIM:610253	EHMT1	79813	HP:0000006	Autosomal dominant inheritance
OMIM:610253	EHMT1	79813	HP:0000664	Synophrys
OMIM:610253	EHMT1	79813	HP:0000750	Delayed speech and language development
OMIM:610253	EHMT1	79813	HP:0000316	Hypertelorism
OMIM:610253	EHMT1	79813	HP:0000377	Abnormality of the pinna
ORPHA:66628	LEP	3952	HP:0000771	Gynecomastia
ORPHA:66628	LEP	3952	HP:0001513	Obesity
ORPHA:66628	LEP	3952	HP:0005407	Decreased number of CD4+ T cells
ORPHA:66628	LEP	3952	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:66628	LEP	3952	HP:0003292	Decreased serum leptin
ORPHA:66628	LEP	3952	HP:0005616	Accelerated skeletal maturation
ORPHA:66628	LEP	3952	HP:0008724	Hypoplasia of the ovary
ORPHA:66628	LEP	3952	HP:0008187	Absence of secondary sex characteristics
ORPHA:66628	LEP	3952	HP:0000842	Hyperinsulinemia
ORPHA:66628	LEP	3952	HP:0002788	Recurrent upper respiratory tract infections
ORPHA:66628	LEP	3952	HP:0008230	Decreased testosterone in males
ORPHA:66628	LEP	3952	HP:0008734	Decreased testicular size
ORPHA:66628	LEP	3952	HP:0000786	Primary amenorrhea
ORPHA:66628	LEP	3952	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:66628	LEP	3952	HP:0002591	Polyphagia
ORPHA:66628	LEP	3952	HP:0002155	Hypertriglyceridemia
ORPHA:66628	LEP	3952	HP:0008245	Pituitary hypothyroidism
ORPHA:66628	LEP	3952	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
ORPHA:66628	LEP	3952	HP:0005419	Decreased T cell activation
ORPHA:66628	LEP	3952	HP:0008214	Decreased serum estradiol
OMIM:612951	RNASET2	8635	HP:0000007	Autosomal recessive inheritance
OMIM:612951	RNASET2	8635	HP:0007042	Focal white matter lesions
OMIM:612951	RNASET2	8635	HP:0003677	Slow progression
OMIM:612951	RNASET2	8635	HP:0002465	Poor speech
OMIM:613612	COG5	10466	HP:0001272	Cerebellar atrophy
OMIM:613612	COG5	10466	HP:0003642	Type I transferrin isoform profile
OMIM:613612	COG5	10466	HP:0000007	Autosomal recessive inheritance
OMIM:613612	COG5	10466	HP:0001249	Intellectual disability
OMIM:613612	COG5	10466	HP:0002078	Truncal ataxia
OMIM:613612	COG5	10466	HP:0001252	Muscular hypotonia
OMIM:613612	COG5	10466	HP:0007366	Atrophy/Degeneration affecting the brainstem
ORPHA:85165	FGFR3	2261	HP:0000252	Microcephaly
ORPHA:85165	FGFR3	2261	HP:0000889	Abnormality of the clavicle
ORPHA:85165	FGFR3	2261	HP:0012081	Enlarged cerebellum
ORPHA:85165	FGFR3	2261	HP:0010502	Fibular bowing
ORPHA:85165	FGFR3	2261	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:85165	FGFR3	2261	HP:0002982	Tibial bowing
ORPHA:85165	FGFR3	2261	HP:0000956	Acanthosis nigricans
ORPHA:85165	FGFR3	2261	HP:0005871	Metaphyseal chondrodysplasia
ORPHA:85165	FGFR3	2261	HP:0011344	Severe global developmental delay
ORPHA:85165	FGFR3	2261	HP:0009118	Aplasia/Hypoplasia of the mandible
ORPHA:85165	FGFR3	2261	HP:0012444	Brain atrophy
ORPHA:85165	FGFR3	2261	HP:0002197	Generalized seizures
ORPHA:85165	FGFR3	2261	HP:0002980	Femoral bowing
ORPHA:85165	FGFR3	2261	HP:0010864	Intellectual disability, severe
OMIM:601382	MTMR2	8898	HP:0002460	Distal muscle weakness
OMIM:601382	MTMR2	8898	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601382	MTMR2	8898	HP:0002936	Distal sensory impairment
OMIM:601382	MTMR2	8898	HP:0000007	Autosomal recessive inheritance
OMIM:601382	MTMR2	8898	HP:0010628	Facial palsy
OMIM:601382	MTMR2	8898	HP:0001425	Heterogeneous
OMIM:601382	MTMR2	8898	HP:0002650	Scoliosis
OMIM:601382	MTMR2	8898	HP:0003693	Distal amyotrophy
OMIM:601382	MTMR2	8898	HP:0006958	Abnormal auditory evoked potentials
OMIM:601382	MTMR2	8898	HP:0001270	Motor delay
OMIM:601382	MTMR2	8898	HP:0003701	Proximal muscle weakness
OMIM:601382	MTMR2	8898	HP:0007208	Irregular myelin loops
OMIM:601382	MTMR2	8898	HP:0001762	Talipes equinovarus
OMIM:615269	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:121850	PIKFYVE	200576	HP:0000613	Photophobia
OMIM:121850	PIKFYVE	200576	HP:0007962	Speckled corneal dystrophy
OMIM:121850	PIKFYVE	200576	HP:0000006	Autosomal dominant inheritance
OMIM:300633	AR	367	HP:0000051	Perineal hypospadias
OMIM:300633	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:203200	OCA2	4948	HP:0000486	Strabismus
OMIM:203200	OCA2	4948	HP:0000007	Autosomal recessive inheritance
OMIM:203200	OCA2	4948	HP:0000639	Nystagmus
OMIM:203200	OCA2	4948	HP:0002297	Red hair
OMIM:203200	OCA2	4948	HP:0007663	Reduced visual acuity
OMIM:203200	OCA2	4948	HP:0000635	Blue irides
OMIM:203200	OCA2	4948	HP:0007894	Hypopigmentation of the fundus
OMIM:203200	OCA2	4948	HP:0000505	Visual impairment
OMIM:203200	OCA2	4948	HP:0007603	Freckles in sun-exposed areas
OMIM:203200	OCA2	4948	HP:0001022	Albinism
OMIM:203200	OCA2	4948	HP:0007750	Hypoplasia of the fovea
OMIM:270970	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:270970	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:270970	SPTA1	6708	HP:0004444	Spherocytosis
ORPHA:269	FRG1	2483	HP:0000499	Abnormality of the eyelashes
ORPHA:269	FRG1	2483	HP:0003202	Skeletal muscle atrophy
ORPHA:269	FRG1	2483	HP:0100540	Palpebral edema
ORPHA:269	FRG1	2483	HP:0000407	Sensorineural hearing impairment
ORPHA:269	FRG1	2483	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:269	FRG1	2483	HP:0000298	Mask-like facies
ORPHA:269	FRG1	2483	HP:0003457	EMG abnormality
ORPHA:269	FRG1	2483	HP:0008046	Abnormality of the retinal vasculature
ORPHA:269	FRG1	2483	HP:0003307	Hyperlordosis
ORPHA:269	SMCHD1	23347	HP:0000499	Abnormality of the eyelashes
ORPHA:269	SMCHD1	23347	HP:0003202	Skeletal muscle atrophy
ORPHA:269	SMCHD1	23347	HP:0100540	Palpebral edema
ORPHA:269	SMCHD1	23347	HP:0000407	Sensorineural hearing impairment
ORPHA:269	SMCHD1	23347	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:269	SMCHD1	23347	HP:0000298	Mask-like facies
ORPHA:269	SMCHD1	23347	HP:0003457	EMG abnormality
ORPHA:269	SMCHD1	23347	HP:0008046	Abnormality of the retinal vasculature
ORPHA:269	SMCHD1	23347	HP:0003307	Hyperlordosis
ORPHA:269	DUX4	100288687	HP:0000499	Abnormality of the eyelashes
ORPHA:269	DUX4	100288687	HP:0003202	Skeletal muscle atrophy
ORPHA:269	DUX4	100288687	HP:0100540	Palpebral edema
ORPHA:269	DUX4	100288687	HP:0000407	Sensorineural hearing impairment
ORPHA:269	DUX4	100288687	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:269	DUX4	100288687	HP:0000298	Mask-like facies
ORPHA:269	DUX4	100288687	HP:0003457	EMG abnormality
ORPHA:269	DUX4	100288687	HP:0008046	Abnormality of the retinal vasculature
ORPHA:269	DUX4	100288687	HP:0003307	Hyperlordosis
ORPHA:79319	MPI	4351	HP:0001004	Lymphedema
ORPHA:79319	MPI	4351	HP:0002612	Congenital hepatic fibrosis
ORPHA:79319	MPI	4351	HP:0002024	Malabsorption
ORPHA:79319	MPI	4351	HP:0001399	Hepatic failure
ORPHA:79319	MPI	4351	HP:0001943	Hypoglycemia
OMIM:608027	PCLO	27445	HP:0000365	Hearing impairment
OMIM:608027	PCLO	27445	HP:0000343	Long philtrum
OMIM:608027	PCLO	27445	HP:0000007	Autosomal recessive inheritance
OMIM:608027	PCLO	27445	HP:0002705	High, narrow palate
OMIM:608027	PCLO	27445	HP:0000253	Progressive microcephaly
OMIM:608027	PCLO	27445	HP:0002059	Cerebral atrophy
OMIM:608027	PCLO	27445	HP:0000648	Optic atrophy
OMIM:608027	PCLO	27445	HP:0000400	Macrotia
OMIM:608027	PCLO	27445	HP:0001250	Seizures
OMIM:608027	PCLO	27445	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608027	PCLO	27445	HP:0005280	Depressed nasal bridge
OMIM:608027	PCLO	27445	HP:0012110	Hypoplasia of the pons
OMIM:608027	PCLO	27445	HP:0001321	Cerebellar hypoplasia
OMIM:608027	PCLO	27445	HP:0000369	Low-set ears
OMIM:608027	PCLO	27445	HP:0001319	Neonatal hypotonia
OMIM:608027	PCLO	27445	HP:0004322	Short stature
OMIM:608027	PCLO	27445	HP:0001272	Cerebellar atrophy
OMIM:608027	PCLO	27445	HP:0000637	Long palpebral fissure
OMIM:608027	PCLO	27445	HP:0003676	Progressive
OMIM:608027	PCLO	27445	HP:0000293	Full cheeks
OMIM:608027	PCLO	27445	HP:0001257	Spasticity
OMIM:608027	PCLO	27445	HP:0001347	Hyperreflexia
OMIM:608027	PCLO	27445	HP:0000248	Brachycephaly
OMIM:608027	PCLO	27445	HP:0000218	High palate
OMIM:608027	PCLO	27445	HP:0002714	Downturned corners of mouth
OMIM:608027	PCLO	27445	HP:0004325	Decreased body weight
OMIM:608027	PCLO	27445	HP:0001263	Global developmental delay
OMIM:608027	PCLO	27445	HP:0002421	Poor head control
OMIM:608027	PCLO	27445	HP:0008936	Muscular hypotonia of the trunk
OMIM:608027	PCLO	27445	HP:0003577	Congenital onset
OMIM:608027	PCLO	27445	HP:0000520	Proptosis
OMIM:608027	PCLO	27445	HP:0002365	Hypoplasia of the brainstem
OMIM:181405	TRPV4	59341	HP:0003555	Muscle fiber splitting
OMIM:181405	TRPV4	59341	HP:0001385	Hip dysplasia
OMIM:181405	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:181405	TRPV4	59341	HP:0001270	Motor delay
OMIM:181405	TRPV4	59341	HP:0003391	Gowers sign
OMIM:181405	TRPV4	59341	HP:0010628	Facial palsy
OMIM:181405	TRPV4	59341	HP:0008955	Progressive distal muscular atrophy
OMIM:181405	TRPV4	59341	HP:0002136	Broad-based gait
OMIM:181405	TRPV4	59341	HP:0003697	Scapuloperoneal amyotrophy
OMIM:181405	TRPV4	59341	HP:0001284	Areflexia
OMIM:181405	TRPV4	59341	HP:0009113	Diaphragmatic weakness
OMIM:181405	TRPV4	59341	HP:0002650	Scoliosis
OMIM:181405	TRPV4	59341	HP:0200055	Small hand
OMIM:181405	TRPV4	59341	HP:0002808	Kyphosis
OMIM:181405	TRPV4	59341	HP:0009063	Progressive distal muscle weakness
OMIM:181405	TRPV4	59341	HP:0001762	Talipes equinovarus
OMIM:181405	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:181405	TRPV4	59341	HP:0011727	Peroneal muscle weakness
OMIM:181405	TRPV4	59341	HP:0030084	Clinodactyly
OMIM:181405	TRPV4	59341	HP:0003634	Amyoplasia
OMIM:181405	TRPV4	59341	HP:0007178	Motor polyneuropathy
OMIM:181405	TRPV4	59341	HP:0003691	Scapular winging
OMIM:181405	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:181405	TRPV4	59341	HP:0000473	Torticollis
OMIM:181405	TRPV4	59341	HP:0001840	Metatarsus adductus
OMIM:181405	TRPV4	59341	HP:0003307	Hyperlordosis
OMIM:181405	TRPV4	59341	HP:0009060	Scapular muscle atrophy
OMIM:181405	TRPV4	59341	HP:0011349	Abducens palsy
OMIM:181405	TRPV4	59341	HP:0009049	Peroneal muscle atrophy
OMIM:201100	SLC39A4	55630	HP:0000224	Decreased taste sensation
OMIM:201100	SLC39A4	55630	HP:0001251	Ataxia
OMIM:201100	SLC39A4	55630	HP:0001508	Failure to thrive
OMIM:201100	SLC39A4	55630	HP:0001254	Lethargy
OMIM:201100	SLC39A4	55630	HP:0005401	Recurrent candida infections
OMIM:201100	SLC39A4	55630	HP:0002014	Diarrhea
OMIM:201100	SLC39A4	55630	HP:0008230	Decreased testosterone in males
OMIM:201100	SLC39A4	55630	HP:0003593	Infantile onset
OMIM:201100	SLC39A4	55630	HP:0002293	Alopecia of scalp
OMIM:201100	SLC39A4	55630	HP:0001337	Tremor
OMIM:201100	SLC39A4	55630	HP:0005435	Impaired T cell function
OMIM:201100	SLC39A4	55630	HP:0002240	Hepatomegaly
OMIM:201100	SLC39A4	55630	HP:0004322	Short stature
OMIM:201100	SLC39A4	55630	HP:0008734	Decreased testicular size
OMIM:201100	SLC39A4	55630	HP:0003282	Low alkaline phosphatase
OMIM:201100	SLC39A4	55630	HP:0000737	Irritability
OMIM:201100	SLC39A4	55630	HP:0004396	Poor appetite
OMIM:201100	SLC39A4	55630	HP:0001744	Splenomegaly
OMIM:201100	SLC39A4	55630	HP:0000712	Emotional lability
OMIM:201100	SLC39A4	55630	HP:0000135	Hypogonadism
OMIM:201100	SLC39A4	55630	HP:0000007	Autosomal recessive inheritance
OMIM:201100	SLC39A4	55630	HP:0001818	Paronychia
OMIM:616819	FRMD4A	55691	HP:0001251	Ataxia
OMIM:616819	FRMD4A	55691	HP:0012724	Upper eyelid edema
OMIM:616819	FRMD4A	55691	HP:0000463	Anteverted nares
OMIM:616819	FRMD4A	55691	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:616819	FRMD4A	55691	HP:0000341	Narrow forehead
OMIM:616819	FRMD4A	55691	HP:0008070	Sparse hair
OMIM:616819	FRMD4A	55691	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616819	FRMD4A	55691	HP:0000007	Autosomal recessive inheritance
OMIM:616819	FRMD4A	55691	HP:0000369	Low-set ears
OMIM:616819	FRMD4A	55691	HP:0001249	Intellectual disability
OMIM:616819	FRMD4A	55691	HP:0001321	Cerebellar hypoplasia
OMIM:616819	FRMD4A	55691	HP:0001007	Hirsutism
OMIM:616819	FRMD4A	55691	HP:0001263	Global developmental delay
OMIM:616819	FRMD4A	55691	HP:0000411	Protruding ear
OMIM:616819	FRMD4A	55691	HP:0000574	Thick eyebrow
OMIM:616819	FRMD4A	55691	HP:0011451	Congenital microcephaly
OMIM:616819	FRMD4A	55691	HP:0000486	Strabismus
OMIM:616819	FRMD4A	55691	HP:0000358	Posteriorly rotated ears
OMIM:616819	FRMD4A	55691	HP:0000527	Long eyelashes
OMIM:616819	FRMD4A	55691	HP:0000232	Everted lower lip vermilion
OMIM:616819	FRMD4A	55691	HP:0000294	Low anterior hairline
OMIM:614879	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:614879	PEX7	5191	HP:0001249	Intellectual disability
OMIM:614879	PEX7	5191	HP:0000407	Sensorineural hearing impairment
OMIM:614879	PEX7	5191	HP:0010571	Elevated levels of phytanic acid
OMIM:614879	PEX7	5191	HP:0000510	Rod-cone dystrophy
OMIM:614879	PEX7	5191	HP:0000518	Cataract
ORPHA:276399	KEAP1	9817	HP:0200063	Colorectal polyposis
ORPHA:276399	KEAP1	9817	HP:0100528	Pleuropulmonary blastoma
ORPHA:276399	KEAP1	9817	HP:0005987	Multinodular goiter
ORPHA:276399	KEAP1	9817	HP:0100617	Testicular seminoma
ORPHA:276399	KEAP1	9817	HP:0005584	Renal cell carcinoma
ORPHA:276399	KEAP1	9817	HP:0100615	Ovarian neoplasm
ORPHA:276399	KEAP1	9817	HP:0100619	Sertoli cell neoplasm
ORPHA:276399	KEAP1	9817	HP:0002671	Basal cell carcinoma
ORPHA:276399	DICER1	23405	HP:0200063	Colorectal polyposis
ORPHA:276399	DICER1	23405	HP:0100528	Pleuropulmonary blastoma
ORPHA:276399	DICER1	23405	HP:0005987	Multinodular goiter
ORPHA:276399	DICER1	23405	HP:0100617	Testicular seminoma
ORPHA:276399	DICER1	23405	HP:0005584	Renal cell carcinoma
ORPHA:276399	DICER1	23405	HP:0100615	Ovarian neoplasm
ORPHA:276399	DICER1	23405	HP:0100619	Sertoli cell neoplasm
ORPHA:276399	DICER1	23405	HP:0002671	Basal cell carcinoma
OMIM:109400	PTCH2	8643	HP:0001144	Orbital cyst
OMIM:109400	PTCH2	8643	HP:0000242	Parietal bossing
OMIM:109400	PTCH2	8643	HP:0002007	Frontal bossing
OMIM:109400	PTCH2	8643	HP:0004795	Hamartomatous stomach polyps
OMIM:109400	PTCH2	8643	HP:0000612	Iris coloboma
OMIM:109400	PTCH2	8643	HP:0002751	Kyphoscoliosis
OMIM:109400	PTCH2	8643	HP:0002948	Vertebral fusion
OMIM:109400	PTCH2	8643	HP:0010044	Short 4th metacarpal
OMIM:109400	PTCH2	8643	HP:0002937	Hemivertebrae
OMIM:109400	PTCH2	8643	HP:0004280	Irregular ossification of hand bones
OMIM:109400	PTCH2	8643	HP:0008422	Vertebral wedging
OMIM:109400	PTCH2	8643	HP:0001156	Brachydactyly
OMIM:109400	PTCH2	8643	HP:0003828	Variable expressivity
OMIM:109400	PTCH2	8643	HP:0010603	Odontogenic keratocysts of the jaw
OMIM:109400	PTCH2	8643	HP:0005462	Calcification of falx cerebri
OMIM:109400	PTCH2	8643	HP:0000238	Hydrocephalus
OMIM:109400	PTCH2	8643	HP:0001056	Milia
OMIM:109400	PTCH2	8643	HP:0000912	Sprengel anomaly
OMIM:109400	PTCH2	8643	HP:0000766	Abnormality of the sternum
OMIM:109400	PTCH2	8643	HP:0000204	Cleft upper lip
OMIM:109400	PTCH2	8643	HP:0010610	Palmar pits
OMIM:109400	PTCH2	8643	HP:0000518	Cataract
OMIM:109400	PTCH2	8643	HP:0000303	Mandibular prognathia
OMIM:109400	PTCH2	8643	HP:0009650	Short distal phalanx of the thumb
OMIM:109400	PTCH2	8643	HP:0002414	Spina bifida
OMIM:109400	PTCH2	8643	HP:0000006	Autosomal dominant inheritance
OMIM:109400	PTCH2	8643	HP:0000280	Coarse facial features
OMIM:109400	PTCH2	8643	HP:0000431	Wide nasal bridge
OMIM:109400	PTCH2	8643	HP:0000256	Macrocephaly
OMIM:109400	PTCH2	8643	HP:0000486	Strabismus
OMIM:109400	PTCH2	8643	HP:0002671	Basal cell carcinoma
OMIM:109400	PTCH2	8643	HP:0025318	Ovarian carcinoma
OMIM:109400	PTCH2	8643	HP:0002650	Scoliosis
OMIM:109400	PTCH2	8643	HP:0001270	Motor delay
OMIM:109400	PTCH2	8643	HP:0002885	Medulloblastoma
OMIM:109400	PTCH2	8643	HP:0000501	Glaucoma
OMIM:109400	PTCH2	8643	HP:0010618	Ovarian fibroma
OMIM:109400	PTCH2	8643	HP:0000568	Microphthalmia
OMIM:109400	PTCH2	8643	HP:0010609	Skin tags
OMIM:109400	PTCH2	8643	HP:0000175	Cleft palate
OMIM:109400	PTCH2	8643	HP:0005815	Supernumerary ribs
OMIM:109400	PTCH2	8643	HP:0000316	Hypertelorism
OMIM:109400	PTCH2	8643	HP:0005449	Bridged sella turcica
OMIM:109400	PTCH2	8643	HP:0010612	Plantar pits
OMIM:109400	PTCH2	8643	HP:0000892	Bifid ribs
OMIM:109400	PTCH2	8643	HP:0000773	Short ribs
OMIM:109400	PTCH2	8643	HP:0200021	Down-sloping shoulders
OMIM:109400	PTCH2	8643	HP:0010442	Polydactyly
OMIM:109400	PTCH2	8643	HP:0000283	Broad face
OMIM:109400	PTCH2	8643	HP:0009729	Cardiac rhabdomyoma
OMIM:109400	PTCH2	8643	HP:0010617	Cardiac fibroma
OMIM:109400	PTCH2	8643	HP:0001425	Heterogeneous
OMIM:109400	SUFU	51684	HP:0001144	Orbital cyst
OMIM:109400	SUFU	51684	HP:0000242	Parietal bossing
OMIM:109400	SUFU	51684	HP:0002007	Frontal bossing
OMIM:109400	SUFU	51684	HP:0004795	Hamartomatous stomach polyps
OMIM:109400	SUFU	51684	HP:0000612	Iris coloboma
OMIM:109400	SUFU	51684	HP:0002751	Kyphoscoliosis
OMIM:109400	SUFU	51684	HP:0002948	Vertebral fusion
OMIM:109400	SUFU	51684	HP:0010044	Short 4th metacarpal
OMIM:109400	SUFU	51684	HP:0002937	Hemivertebrae
OMIM:109400	SUFU	51684	HP:0004280	Irregular ossification of hand bones
OMIM:109400	SUFU	51684	HP:0008422	Vertebral wedging
OMIM:109400	SUFU	51684	HP:0001156	Brachydactyly
OMIM:109400	SUFU	51684	HP:0003828	Variable expressivity
OMIM:109400	SUFU	51684	HP:0010603	Odontogenic keratocysts of the jaw
OMIM:109400	SUFU	51684	HP:0005462	Calcification of falx cerebri
OMIM:109400	SUFU	51684	HP:0000238	Hydrocephalus
OMIM:109400	SUFU	51684	HP:0001056	Milia
OMIM:109400	SUFU	51684	HP:0000912	Sprengel anomaly
OMIM:109400	SUFU	51684	HP:0000766	Abnormality of the sternum
OMIM:109400	SUFU	51684	HP:0000204	Cleft upper lip
OMIM:109400	SUFU	51684	HP:0010610	Palmar pits
OMIM:109400	SUFU	51684	HP:0000518	Cataract
OMIM:109400	SUFU	51684	HP:0000303	Mandibular prognathia
OMIM:109400	SUFU	51684	HP:0009650	Short distal phalanx of the thumb
OMIM:109400	SUFU	51684	HP:0002414	Spina bifida
OMIM:109400	SUFU	51684	HP:0000006	Autosomal dominant inheritance
OMIM:109400	SUFU	51684	HP:0000280	Coarse facial features
OMIM:109400	SUFU	51684	HP:0000431	Wide nasal bridge
OMIM:109400	SUFU	51684	HP:0000256	Macrocephaly
OMIM:109400	SUFU	51684	HP:0000486	Strabismus
OMIM:109400	SUFU	51684	HP:0002671	Basal cell carcinoma
OMIM:109400	SUFU	51684	HP:0025318	Ovarian carcinoma
OMIM:109400	SUFU	51684	HP:0002650	Scoliosis
OMIM:109400	SUFU	51684	HP:0001270	Motor delay
OMIM:109400	SUFU	51684	HP:0002885	Medulloblastoma
OMIM:109400	SUFU	51684	HP:0000501	Glaucoma
OMIM:109400	SUFU	51684	HP:0010618	Ovarian fibroma
OMIM:109400	SUFU	51684	HP:0000568	Microphthalmia
OMIM:109400	SUFU	51684	HP:0010609	Skin tags
OMIM:109400	SUFU	51684	HP:0000175	Cleft palate
OMIM:109400	SUFU	51684	HP:0005815	Supernumerary ribs
OMIM:109400	SUFU	51684	HP:0000316	Hypertelorism
OMIM:109400	SUFU	51684	HP:0005449	Bridged sella turcica
OMIM:109400	SUFU	51684	HP:0010612	Plantar pits
OMIM:109400	SUFU	51684	HP:0000892	Bifid ribs
OMIM:109400	SUFU	51684	HP:0000773	Short ribs
OMIM:109400	SUFU	51684	HP:0200021	Down-sloping shoulders
OMIM:109400	SUFU	51684	HP:0010442	Polydactyly
OMIM:109400	SUFU	51684	HP:0000283	Broad face
OMIM:109400	SUFU	51684	HP:0009729	Cardiac rhabdomyoma
OMIM:109400	SUFU	51684	HP:0010617	Cardiac fibroma
OMIM:109400	SUFU	51684	HP:0001425	Heterogeneous
OMIM:109400	PTCH1	5727	HP:0001144	Orbital cyst
OMIM:109400	PTCH1	5727	HP:0000242	Parietal bossing
OMIM:109400	PTCH1	5727	HP:0002007	Frontal bossing
OMIM:109400	PTCH1	5727	HP:0004795	Hamartomatous stomach polyps
OMIM:109400	PTCH1	5727	HP:0000612	Iris coloboma
OMIM:109400	PTCH1	5727	HP:0002751	Kyphoscoliosis
OMIM:109400	PTCH1	5727	HP:0002948	Vertebral fusion
OMIM:109400	PTCH1	5727	HP:0010044	Short 4th metacarpal
OMIM:109400	PTCH1	5727	HP:0002937	Hemivertebrae
OMIM:109400	PTCH1	5727	HP:0004280	Irregular ossification of hand bones
OMIM:109400	PTCH1	5727	HP:0008422	Vertebral wedging
OMIM:109400	PTCH1	5727	HP:0001156	Brachydactyly
OMIM:109400	PTCH1	5727	HP:0003828	Variable expressivity
OMIM:109400	PTCH1	5727	HP:0010603	Odontogenic keratocysts of the jaw
OMIM:109400	PTCH1	5727	HP:0005462	Calcification of falx cerebri
OMIM:109400	PTCH1	5727	HP:0000238	Hydrocephalus
OMIM:109400	PTCH1	5727	HP:0001056	Milia
OMIM:109400	PTCH1	5727	HP:0000912	Sprengel anomaly
OMIM:109400	PTCH1	5727	HP:0000766	Abnormality of the sternum
OMIM:109400	PTCH1	5727	HP:0000204	Cleft upper lip
OMIM:109400	PTCH1	5727	HP:0010610	Palmar pits
OMIM:109400	PTCH1	5727	HP:0000518	Cataract
OMIM:109400	PTCH1	5727	HP:0000303	Mandibular prognathia
OMIM:109400	PTCH1	5727	HP:0009650	Short distal phalanx of the thumb
OMIM:109400	PTCH1	5727	HP:0002414	Spina bifida
OMIM:109400	PTCH1	5727	HP:0000006	Autosomal dominant inheritance
OMIM:109400	PTCH1	5727	HP:0000280	Coarse facial features
OMIM:109400	PTCH1	5727	HP:0000431	Wide nasal bridge
OMIM:109400	PTCH1	5727	HP:0000256	Macrocephaly
OMIM:109400	PTCH1	5727	HP:0000486	Strabismus
OMIM:109400	PTCH1	5727	HP:0002671	Basal cell carcinoma
OMIM:109400	PTCH1	5727	HP:0025318	Ovarian carcinoma
OMIM:109400	PTCH1	5727	HP:0002650	Scoliosis
OMIM:109400	PTCH1	5727	HP:0001270	Motor delay
OMIM:109400	PTCH1	5727	HP:0002885	Medulloblastoma
OMIM:109400	PTCH1	5727	HP:0000501	Glaucoma
OMIM:109400	PTCH1	5727	HP:0010618	Ovarian fibroma
OMIM:109400	PTCH1	5727	HP:0000568	Microphthalmia
OMIM:109400	PTCH1	5727	HP:0010609	Skin tags
OMIM:109400	PTCH1	5727	HP:0000175	Cleft palate
OMIM:109400	PTCH1	5727	HP:0005815	Supernumerary ribs
OMIM:109400	PTCH1	5727	HP:0000316	Hypertelorism
OMIM:109400	PTCH1	5727	HP:0005449	Bridged sella turcica
OMIM:109400	PTCH1	5727	HP:0010612	Plantar pits
OMIM:109400	PTCH1	5727	HP:0000892	Bifid ribs
OMIM:109400	PTCH1	5727	HP:0000773	Short ribs
OMIM:109400	PTCH1	5727	HP:0200021	Down-sloping shoulders
OMIM:109400	PTCH1	5727	HP:0010442	Polydactyly
OMIM:109400	PTCH1	5727	HP:0000283	Broad face
OMIM:109400	PTCH1	5727	HP:0009729	Cardiac rhabdomyoma
OMIM:109400	PTCH1	5727	HP:0010617	Cardiac fibroma
OMIM:109400	PTCH1	5727	HP:0001425	Heterogeneous
OMIM:613827	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613827	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613827	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:153600	MYD88	4615	HP:0000006	Autosomal dominant inheritance
OMIM:153600	MYD88	4615	HP:0003459	Polyclonal elevation of IgM
OMIM:153600	MYD88	4615	HP:0001271	Polyneuropathy
OMIM:153600	MYD88	4615	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
OMIM:153600	MYD88	4615	HP:0005508	Monoclonal immunoglobulin M proteinemia
OMIM:181350	LMNA	4000	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:181350	LMNA	4000	HP:0006785	Limb-girdle muscular dystrophy
OMIM:181350	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:181350	LMNA	4000	HP:0001417	X-linked inheritance
OMIM:181350	LMNA	4000	HP:0009049	Peroneal muscle atrophy
OMIM:181350	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:181350	LMNA	4000	HP:0011675	Arrhythmia
OMIM:181350	LMNA	4000	HP:0011727	Peroneal muscle weakness
OMIM:181350	LMNA	4000	HP:0003325	Limb-girdle muscle weakness
OMIM:181350	LMNA	4000	HP:0003306	Spinal rigidity
OMIM:181350	LMNA	4000	HP:0003828	Variable expressivity
OMIM:181350	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:181350	LMNA	4000	HP:0003690	Limb muscle weakness
OMIM:181350	LMNA	4000	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:181350	LMNA	4000	HP:0003691	Scapular winging
OMIM:181350	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:181350	LMNA	4000	HP:0003677	Slow progression
OMIM:181350	LMNA	4000	HP:0008944	Distal lower limb amyotrophy
OMIM:181350	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:181350	LMNA	4000	HP:0001771	Achilles tendon contracture
OMIM:181350	LMNA	4000	HP:0002987	Elbow flexion contracture
OMIM:181350	LMNA	4000	HP:0005997	Restricted neck movement due to contractures
OMIM:607417	CRBN	51185	HP:0001263	Global developmental delay
OMIM:607417	CRBN	51185	HP:0001256	Intellectual disability, mild
OMIM:607417	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:182900	ANK1	286	HP:0000952	Jaundice
OMIM:182900	ANK1	286	HP:0002904	Hyperbilirubinemia
OMIM:182900	ANK1	286	HP:0000006	Autosomal dominant inheritance
OMIM:182900	ANK1	286	HP:0004444	Spherocytosis
OMIM:182900	ANK1	286	HP:0001923	Reticulocytosis
OMIM:182900	ANK1	286	HP:0001081	Cholelithiasis
OMIM:182900	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:182900	ANK1	286	HP:0001744	Splenomegaly
OMIM:170500	SCN4A	6329	HP:0003812	Phenotypic variability
OMIM:170500	SCN4A	6329	HP:0003752	Episodic flaccid weakness
OMIM:170500	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:170500	SCN4A	6329	HP:0007215	Periodic hyperkalemic paralysis
OMIM:170500	SCN4A	6329	HP:0003593	Infantile onset
OMIM:170500	SCN4A	6329	HP:0002486	Myotonia
OMIM:300853	MAGT1	84061	HP:0004429	Recurrent viral infections
OMIM:300853	MAGT1	84061	HP:0002665	Lymphoma
OMIM:300853	MAGT1	84061	HP:0005407	Decreased number of CD4+ T cells
OMIM:300853	MAGT1	84061	HP:0005419	Decreased T cell activation
OMIM:300853	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300853	MAGT1	84061	HP:0002721	Immunodeficiency
OMIM:616854	HSPA9	3313	HP:0000248	Brachycephaly
OMIM:616854	HSPA9	3313	HP:0001047	Atopic dermatitis
OMIM:616854	HSPA9	3313	HP:0000470	Short neck
OMIM:616854	HSPA9	3313	HP:0011800	Midface retrusion
OMIM:616854	HSPA9	3313	HP:0000007	Autosomal recessive inheritance
OMIM:616854	HSPA9	3313	HP:0000089	Renal hypoplasia
OMIM:616854	HSPA9	3313	HP:0001655	Patent foramen ovale
OMIM:616854	HSPA9	3313	HP:0010575	Dysplasia of the femoral head
OMIM:616854	HSPA9	3313	HP:0000668	Hypodontia
OMIM:616854	HSPA9	3313	HP:0002656	Epiphyseal dysplasia
OMIM:616854	HSPA9	3313	HP:0000218	High palate
OMIM:616854	HSPA9	3313	HP:0002553	Highly arched eyebrow
OMIM:616854	HSPA9	3313	HP:0001562	Oligohydramnios
OMIM:616854	HSPA9	3313	HP:0003417	Coronal cleft vertebrae
OMIM:616854	HSPA9	3313	HP:0003196	Short nose
OMIM:616854	HSPA9	3313	HP:0003510	Severe short stature
OMIM:616854	HSPA9	3313	HP:0008070	Sparse hair
OMIM:616854	HSPA9	3313	HP:0000010	Recurrent urinary tract infections
OMIM:616854	HSPA9	3313	HP:0001274	Agenesis of corpus callosum
OMIM:604454	TIA1	7072	HP:0003376	Steppage gait
OMIM:604454	TIA1	7072	HP:0003581	Adult onset
OMIM:604454	TIA1	7072	HP:0000007	Autosomal recessive inheritance
OMIM:604454	TIA1	7072	HP:0003805	Rimmed vacuoles
OMIM:604454	TIA1	7072	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:604454	TIA1	7072	HP:0002460	Distal muscle weakness
OMIM:604454	TIA1	7072	HP:0003693	Distal amyotrophy
OMIM:604454	TIA1	7072	HP:0003677	Slow progression
OMIM:604454	TIA1	7072	HP:0000006	Autosomal dominant inheritance
OMIM:600972	SLC26A2	1836	HP:0003270	Abdominal distention
OMIM:600972	SLC26A2	1836	HP:0002983	Micromelia
OMIM:600972	SLC26A2	1836	HP:0000774	Narrow chest
OMIM:600972	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:600972	SLC26A2	1836	HP:0000773	Short ribs
OMIM:600972	SLC26A2	1836	HP:0000946	Hypoplastic ilia
OMIM:600972	SLC26A2	1836	HP:0001623	Breech presentation
OMIM:600972	SLC26A2	1836	HP:0008921	Neonatal short-limb short stature
OMIM:600972	SLC26A2	1836	HP:0004599	Absent or minimally ossified vertebral bodies
OMIM:600972	SLC26A2	1836	HP:0000272	Malar flattening
OMIM:600972	SLC26A2	1836	HP:0001789	Hydrops fetalis
OMIM:600972	SLC26A2	1836	HP:0003826	Stillbirth
OMIM:600972	SLC26A2	1836	HP:0001561	Polyhydramnios
OMIM:600972	SLC26A2	1836	HP:0001537	Umbilical hernia
OMIM:600972	SLC26A2	1836	HP:0002093	Respiratory insufficiency
OMIM:600972	SLC26A2	1836	HP:0000969	Edema
OMIM:600972	SLC26A2	1836	HP:0000023	Inguinal hernia
OMIM:600972	SLC26A2	1836	HP:0012368	Flat face
OMIM:276700	FAH	2184	HP:0001892	Abnormal bleeding
OMIM:276700	FAH	2184	HP:0006554	Acute hepatic failure
OMIM:276700	FAH	2184	HP:0003231	Hypertyrosinemia
OMIM:276700	FAH	2184	HP:0002240	Hepatomegaly
OMIM:276700	FAH	2184	HP:0000096	Glomerulosclerosis
OMIM:276700	FAH	2184	HP:0000121	Nephrocalcinosis
OMIM:276700	FAH	2184	HP:0001394	Cirrhosis
OMIM:276700	FAH	2184	HP:0003163	Elevated urinary delta-aminolevulinic acid
OMIM:276700	FAH	2184	HP:0001541	Ascites
OMIM:276700	FAH	2184	HP:0006949	Episodic peripheral neuropathy
OMIM:276700	FAH	2184	HP:0001928	Abnormality of coagulation
OMIM:276700	FAH	2184	HP:0001994	Renal Fanconi syndrome
OMIM:276700	FAH	2184	HP:0001508	Failure to thrive
OMIM:276700	FAH	2184	HP:0001943	Hypoglycemia
OMIM:276700	FAH	2184	HP:0001639	Hypertrophic cardiomyopathy
OMIM:276700	FAH	2184	HP:0002910	Elevated hepatic transaminases
OMIM:276700	FAH	2184	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:276700	FAH	2184	HP:0003768	Periodic paralysis
OMIM:276700	FAH	2184	HP:0003235	Hypermethioninemia
OMIM:276700	FAH	2184	HP:0000083	Renal insufficiency
OMIM:276700	FAH	2184	HP:0004912	Hypophosphatemic rickets
OMIM:276700	FAH	2184	HP:0001402	Hepatocellular carcinoma
OMIM:276700	FAH	2184	HP:0001744	Splenomegaly
OMIM:276700	FAH	2184	HP:0006254	Elevated alpha-fetoprotein
OMIM:276700	FAH	2184	HP:0004298	Abnormality of the abdominal wall
OMIM:276700	FAH	2184	HP:0000105	Enlarged kidney
OMIM:276700	FAH	2184	HP:0000007	Autosomal recessive inheritance
OMIM:276700	FAH	2184	HP:0002239	Gastrointestinal hemorrhage
OMIM:276700	FAH	2184	HP:0002590	Paralytic ileus
OMIM:609040	PKP2	5318	HP:0006698	Dilatation of the ventricular cavity
OMIM:609040	PKP2	5318	HP:0001645	Sudden cardiac death
OMIM:609040	PKP2	5318	HP:0001279	Syncope
OMIM:609040	PKP2	5318	HP:0000006	Autosomal dominant inheritance
OMIM:609040	PKP2	5318	HP:0001962	Palpitations
OMIM:609040	PKP2	5318	HP:0002617	Dilatation
OMIM:609040	PKP2	5318	HP:0011663	Right ventricular cardiomyopathy
OMIM:609040	PKP2	5318	HP:0004308	Ventricular arrhythmia
OMIM:300643	SRPX2	27286	HP:0007095	Frontoparietal polymicrogyria
OMIM:300643	SRPX2	27286	HP:0000006	Autosomal dominant inheritance
OMIM:300643	SRPX2	27286	HP:0001256	Intellectual disability, mild
OMIM:300643	SRPX2	27286	HP:0007359	Focal seizures
OMIM:300643	SRPX2	27286	HP:0011098	Speech apraxia
OMIM:613987	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:613987	NHP2	55651	HP:0007427	Reticulated skin pigmentation
OMIM:613987	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:613987	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:613987	NHP2	55651	HP:0001876	Pancytopenia
OMIM:613987	NHP2	55651	HP:0001510	Growth delay
OMIM:613987	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:613987	NHP2	55651	HP:0000029	Testicular atrophy
OMIM:613987	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:613987	NHP2	55651	HP:0001394	Cirrhosis
ORPHA:2255	GATA6	2627	HP:0002594	Pancreatic hypoplasia
ORPHA:2255	GATA6	2627	HP:0001508	Failure to thrive
ORPHA:2255	GATA6	2627	HP:0001511	Intrauterine growth retardation
ORPHA:2255	GATA6	2627	HP:0001518	Small for gestational age
ORPHA:2255	GATA6	2627	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:2255	GATA6	2627	HP:0001629	Ventricular septal defect
ORPHA:2255	GATA6	2627	HP:0001655	Patent foramen ovale
ORPHA:2255	GATA6	2627	HP:0011968	Feeding difficulties
ORPHA:2255	GATA6	2627	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:2255	GATA6	2627	HP:0001249	Intellectual disability
ORPHA:2255	GATA6	2627	HP:0100801	Pancreatic aplasia
ORPHA:2255	GATA6	2627	HP:0002254	Intermittent diarrhea
OMIM:611225	ERLIN2	11160	HP:0002808	Kyphosis
OMIM:611225	ERLIN2	11160	HP:0000218	High palate
OMIM:611225	ERLIN2	11160	HP:0000486	Strabismus
OMIM:611225	ERLIN2	11160	HP:0001347	Hyperreflexia
OMIM:611225	ERLIN2	11160	HP:0002650	Scoliosis
OMIM:611225	ERLIN2	11160	HP:0007340	Lower limb muscle weakness
OMIM:611225	ERLIN2	11160	HP:0003487	Babinski sign
OMIM:611225	ERLIN2	11160	HP:0001344	Absent speech
OMIM:611225	ERLIN2	11160	HP:0003676	Progressive
OMIM:611225	ERLIN2	11160	HP:0001288	Gait disturbance
OMIM:611225	ERLIN2	11160	HP:0000007	Autosomal recessive inheritance
OMIM:611225	ERLIN2	11160	HP:0003202	Skeletal muscle atrophy
OMIM:611225	ERLIN2	11160	HP:0001761	Pes cavus
OMIM:611225	ERLIN2	11160	HP:0006986	Upper limb spasticity
OMIM:611225	ERLIN2	11160	HP:0003677	Slow progression
OMIM:611225	ERLIN2	11160	HP:0001258	Spastic paraplegia
OMIM:259900	AGXT	189	HP:0000007	Autosomal recessive inheritance
OMIM:259900	AGXT	189	HP:0002756	Pathologic fracture
OMIM:259900	AGXT	189	HP:0000790	Hematuria
OMIM:259900	AGXT	189	HP:0000965	Cutis marmorata
OMIM:259900	AGXT	189	HP:0001138	Optic neuropathy
OMIM:259900	AGXT	189	HP:0000083	Renal insufficiency
OMIM:259900	AGXT	189	HP:0000648	Optic atrophy
OMIM:259900	AGXT	189	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:259900	AGXT	189	HP:0011001	Increased bone mineral density
OMIM:259900	AGXT	189	HP:0004417	Intermittent claudication
OMIM:259900	AGXT	189	HP:0030880	Raynaud phenomenon
OMIM:259900	AGXT	189	HP:0100758	Gangrene
OMIM:259900	AGXT	189	HP:0000488	Retinopathy
OMIM:259900	AGXT	189	HP:0003159	Hyperoxaluria
OMIM:259900	AGXT	189	HP:0009830	Peripheral neuropathy
OMIM:259900	AGXT	189	HP:0001678	Atrioventricular block
OMIM:259900	AGXT	189	HP:0025324	Arterial occlusion
OMIM:259900	AGXT	189	HP:0030507	Retinal crystals
OMIM:259900	AGXT	189	HP:0004950	Peripheral arterial stenosis
OMIM:259900	AGXT	189	HP:0000121	Nephrocalcinosis
OMIM:259900	AGXT	189	HP:0002653	Bone pain
OMIM:259900	AGXT	189	HP:0001063	Acrocyanosis
OMIM:259900	AGXT	189	HP:0001942	Metabolic acidosis
OMIM:616911	HELLS	3070	HP:0005280	Depressed nasal bridge
OMIM:616911	HELLS	3070	HP:0000316	Hypertelorism
OMIM:616911	HELLS	3070	HP:0000286	Epicanthus
OMIM:616911	HELLS	3070	HP:0000007	Autosomal recessive inheritance
OMIM:616911	HELLS	3070	HP:0002719	Recurrent infections
OMIM:616911	HELLS	3070	HP:0003577	Congenital onset
OMIM:616911	HELLS	3070	HP:0004313	Decreased antibody level in blood
OMIM:604278	SLC4A4	8671	HP:0001510	Growth delay
OMIM:604278	SLC4A4	8671	HP:0001995	Hyperchloremic acidosis
OMIM:604278	SLC4A4	8671	HP:0002049	Proximal renal tubular acidosis
OMIM:604278	SLC4A4	8671	HP:0000501	Glaucoma
OMIM:604278	SLC4A4	8671	HP:0001249	Intellectual disability
OMIM:604278	SLC4A4	8671	HP:0005546	Increased red cell osmotic resistance
OMIM:604278	SLC4A4	8671	HP:0000007	Autosomal recessive inheritance
OMIM:604278	SLC4A4	8671	HP:0004910	Bicarbonate-wasting renal tubular acidosis
OMIM:604278	SLC4A4	8671	HP:0000518	Cataract
OMIM:604278	SLC4A4	8671	HP:0000585	Band keratopathy
OMIM:614438	PYCR1	5831	HP:0000418	Narrow nasal ridge
OMIM:614438	PYCR1	5831	HP:0000750	Delayed speech and language development
OMIM:614438	PYCR1	5831	HP:0010648	Dermal translucency
OMIM:614438	PYCR1	5831	HP:0000028	Cryptorchidism
OMIM:614438	PYCR1	5831	HP:0000358	Posteriorly rotated ears
OMIM:614438	PYCR1	5831	HP:0000581	Blepharophimosis
OMIM:614438	PYCR1	5831	HP:0000023	Inguinal hernia
OMIM:614438	PYCR1	5831	HP:0002213	Fine hair
OMIM:614438	PYCR1	5831	HP:0000963	Thin skin
OMIM:614438	PYCR1	5831	HP:0002987	Elbow flexion contracture
OMIM:614438	PYCR1	5831	HP:0000007	Autosomal recessive inheritance
OMIM:614438	PYCR1	5831	HP:0000973	Cutis laxa
OMIM:614438	PYCR1	5831	HP:0001249	Intellectual disability
OMIM:614438	PYCR1	5831	HP:0007392	Excessive wrinkled skin
OMIM:614438	PYCR1	5831	HP:0000316	Hypertelorism
OMIM:614438	PYCR1	5831	HP:0000592	Blue sclerae
OMIM:614438	PYCR1	5831	HP:0008070	Sparse hair
OMIM:614438	PYCR1	5831	HP:0000239	Large fontanelles
OMIM:614438	PYCR1	5831	HP:0011220	Prominent forehead
OMIM:614438	PYCR1	5831	HP:0001087	Congenital glaucoma
OMIM:614438	PYCR1	5831	HP:0000233	Thin vermilion border
OMIM:613737	PSEN1	5663	HP:0011132	Chronic furunculosis
OMIM:613737	PSEN1	5663	HP:0040154	Acne inversa
OMIM:613737	PSEN1	5663	HP:0012322	Perifolliculitis
OMIM:613737	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613737	PSEN1	5663	HP:0100838	Recurrent cutaneous abscess formation
OMIM:614744	HOXB1	3211	HP:0010628	Facial palsy
OMIM:614744	HOXB1	3211	HP:0000407	Sensorineural hearing impairment
OMIM:614744	HOXB1	3211	HP:0003680	Nonprogressive
OMIM:614744	HOXB1	3211	HP:0000007	Autosomal recessive inheritance
ORPHA:93259	FGFR2	2263	HP:0002779	Tracheomalacia
ORPHA:93259	FGFR2	2263	HP:0000453	Choanal atresia
ORPHA:93259	FGFR2	2263	HP:0000238	Hydrocephalus
ORPHA:93259	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHA:93259	FGFR2	2263	HP:0001250	Seizures
ORPHA:93259	FGFR2	2263	HP:0001376	Limitation of joint mobility
ORPHA:93259	FGFR2	2263	HP:0000272	Malar flattening
ORPHA:93259	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHA:93259	FGFR2	2263	HP:0010059	Broad hallux phalanx
ORPHA:93259	FGFR2	2263	HP:0008080	Hallux varus
ORPHA:93259	FGFR2	2263	HP:0010109	Short hallux
ORPHA:93259	FGFR2	2263	HP:0000348	High forehead
ORPHA:93259	FGFR2	2263	HP:0001773	Short foot
ORPHA:93259	FGFR2	2263	HP:0002410	Aqueductal stenosis
ORPHA:93259	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:93259	FGFR2	2263	HP:0200055	Small hand
ORPHA:93259	FGFR2	2263	HP:0002098	Respiratory distress
ORPHA:93259	FGFR2	2263	HP:0001263	Global developmental delay
ORPHA:93259	FGFR2	2263	HP:0000520	Proptosis
ORPHA:93259	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:93259	FGFR2	2263	HP:0001601	Laryngomalacia
ORPHA:93259	FGFR2	2263	HP:0011304	Broad thumb
ORPHA:93259	FGFR2	2263	HP:0009603	Deviation of the thumb
ORPHA:93259	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
ORPHA:93259	FGFR2	2263	HP:0002676	Cloverleaf skull
ORPHA:93259	FGFR2	2263	HP:0003196	Short nose
ORPHA:93259	FGFR2	2263	HP:0000218	High palate
ORPHA:93259	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
ORPHA:93259	FGFR2	2263	HP:0000369	Low-set ears
ORPHA:93259	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:252150	MOCS1	4337	HP:0003570	Molybdenum cofactor deficiency
OMIM:252150	MOCS1	4337	HP:0003606	Absent urinary urothione
OMIM:252150	MOCS1	4337	HP:0002079	Hypoplasia of the corpus callosum
OMIM:252150	MOCS1	4337	HP:0003537	Hypouricemia
OMIM:252150	MOCS1	4337	HP:0001250	Seizures
OMIM:252150	MOCS1	4337	HP:0001249	Intellectual disability
OMIM:252150	MOCS1	4337	HP:0001510	Growth delay
OMIM:252150	MOCS1	4337	HP:0000316	Hypertelorism
OMIM:252150	MOCS1	4337	HP:0003739	Myoclonic spasms
OMIM:252150	MOCS1	4337	HP:0011814	Increased urinary hypoxanthine
OMIM:252150	MOCS1	4337	HP:0011935	Decreased urinary urate
OMIM:252150	MOCS1	4337	HP:0001285	Spastic tetraparesis
OMIM:252150	MOCS1	4337	HP:0000256	Macrocephaly
OMIM:252150	MOCS1	4337	HP:0000804	Xanthine nephrolithiasis
OMIM:252150	MOCS1	4337	HP:0003359	Decreased urinary sulfate
OMIM:252150	MOCS1	4337	HP:0002171	Gliosis
OMIM:252150	MOCS1	4337	HP:0003447	Axonal loss
OMIM:252150	MOCS1	4337	HP:0002510	Spastic tetraplegia
OMIM:252150	MOCS1	4337	HP:0012471	Thick vermilion border
OMIM:252150	MOCS1	4337	HP:0000252	Microcephaly
OMIM:252150	MOCS1	4337	HP:0002007	Frontal bossing
OMIM:252150	MOCS1	4337	HP:0000276	Long face
OMIM:252150	MOCS1	4337	HP:0002179	Opisthotonus
OMIM:252150	MOCS1	4337	HP:0003643	Sulfite oxidase deficiency
OMIM:252150	MOCS1	4337	HP:0003676	Progressive
OMIM:252150	MOCS1	4337	HP:0000639	Nystagmus
OMIM:252150	MOCS1	4337	HP:0001083	Ectopia lentis
OMIM:252150	MOCS1	4337	HP:0003534	Reduced xanthine dehydrogenase activity
OMIM:252150	MOCS1	4337	HP:0002119	Ventriculomegaly
OMIM:252150	MOCS1	4337	HP:0010934	Xanthinuria
OMIM:252150	MOCS1	4337	HP:0003166	Increased urinary taurine
OMIM:252150	MOCS1	4337	HP:0000293	Full cheeks
OMIM:252150	MOCS1	4337	HP:0011096	Peripheral demyelination
OMIM:252150	MOCS1	4337	HP:0003196	Short nose
OMIM:252150	MOCS1	4337	HP:0011942	Increased urinary sulfite
OMIM:252150	MOCS1	4337	HP:0000007	Autosomal recessive inheritance
OMIM:252150	MOCS1	4337	HP:0011943	Increased urinary thiosulfate
OMIM:252150	MOCS1	4337	HP:0002932	Aldehyde oxidase deficiency
OMIM:252150	MOCS1	4337	HP:0000343	Long philtrum
OMIM:252150	MOCS1	4337	HP:0002059	Cerebral atrophy
OMIM:252150	MOCS1	4337	HP:0008872	Feeding difficulties in infancy
OMIM:300672	CDKL5	6792	HP:0001182	Tapered finger
OMIM:300672	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:300672	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:300672	CDKL5	6792	HP:0011220	Prominent forehead
OMIM:300672	CDKL5	6792	HP:0200055	Small hand
OMIM:300672	CDKL5	6792	HP:0031165	Multifocal seizures
OMIM:300672	CDKL5	6792	HP:0002540	Inability to walk
OMIM:300672	CDKL5	6792	HP:0000179	Thick lower lip vermilion
OMIM:300672	CDKL5	6792	HP:0012469	Infantile spasms
OMIM:300672	CDKL5	6792	HP:0002019	Constipation
OMIM:300672	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:300672	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:300672	CDKL5	6792	HP:0000733	Stereotypy
OMIM:300672	CDKL5	6792	HP:0004279	Short palm
OMIM:300672	CDKL5	6792	HP:0000337	Broad forehead
OMIM:300672	CDKL5	6792	HP:0003593	Infantile onset
OMIM:300672	CDKL5	6792	HP:0002187	Intellectual disability, profound
OMIM:300672	CDKL5	6792	HP:0000817	Poor eye contact
OMIM:300672	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:300672	CDKL5	6792	HP:0002883	Hyperventilation
OMIM:300672	CDKL5	6792	HP:0001423	X-linked dominant inheritance
OMIM:300672	CDKL5	6792	HP:0001773	Short foot
OMIM:300672	CDKL5	6792	HP:0002020	Gastroesophageal reflux
OMIM:300672	CDKL5	6792	HP:0001290	Generalized hypotonia
OMIM:300672	CDKL5	6792	HP:0000463	Anteverted nares
OMIM:300672	CDKL5	6792	HP:0002376	Developmental regression
OMIM:300672	CDKL5	6792	HP:0001336	Myoclonus
OMIM:300672	CDKL5	6792	HP:0002650	Scoliosis
OMIM:300672	CDKL5	6792	HP:0000490	Deeply set eye
OMIM:617526	KDSR	2531	HP:0025092	Epidermal acanthosis
OMIM:617526	KDSR	2531	HP:0000007	Autosomal recessive inheritance
ORPHA:50943	CTSB	1508	HP:0010783	Erythema
OMIM:609823	TRIOBP	11078	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:609823	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
ORPHA:77301	PTCH1	5727	HP:0005462	Calcification of falx cerebri
ORPHA:77301	PTCH1	5727	HP:0002119	Ventriculomegaly
ORPHA:77301	PTCH1	5727	HP:0000494	Downslanted palpebral fissures
ORPHA:77301	PTCH1	5727	HP:0001249	Intellectual disability
ORPHA:77301	PTCH1	5727	HP:0010603	Odontogenic keratocysts of the jaw
ORPHA:77301	PTCH1	5727	HP:0000343	Long philtrum
ORPHA:77301	PTCH1	5727	HP:0003196	Short nose
ORPHA:77301	PTCH1	5727	HP:0005692	Joint hyperflexibility
ORPHA:77301	PTCH1	5727	HP:0000752	Hyperactivity
ORPHA:77301	PTCH1	5727	HP:0000160	Narrow mouth
ORPHA:77301	PTCH1	5727	HP:0000488	Retinopathy
ORPHA:77301	PTCH1	5727	HP:0000684	Delayed eruption of teeth
ORPHA:77301	PTCH1	5727	HP:0000470	Short neck
ORPHA:77301	PTCH1	5727	HP:0000518	Cataract
ORPHA:77301	PTCH1	5727	HP:0001250	Seizures
ORPHA:77301	PTCH1	5727	HP:0002671	Basal cell carcinoma
ORPHA:77301	PTCH1	5727	HP:0010442	Polydactyly
ORPHA:77301	PTCH1	5727	HP:0001537	Umbilical hernia
ORPHA:77301	PTCH1	5727	HP:0000256	Macrocephaly
ORPHA:77301	PTCH1	5727	HP:0001520	Large for gestational age
ORPHA:77301	PTCH1	5727	HP:0001252	Muscular hypotonia
ORPHA:77301	PTCH1	5727	HP:0000098	Tall stature
ORPHA:77301	PTCH1	5727	HP:0010612	Plantar pits
ORPHA:77301	PTCH1	5727	HP:0000238	Hydrocephalus
ORPHA:77301	PTCH1	5727	HP:0009894	Thickened ears
ORPHA:77301	PTCH1	5727	HP:0000486	Strabismus
ORPHA:77301	PTCH1	5727	HP:0000369	Low-set ears
ORPHA:77301	PTCH1	5727	HP:0001263	Global developmental delay
ORPHA:77301	PTCH1	5727	HP:0002885	Medulloblastoma
ORPHA:77301	PTCH1	5727	HP:0000243	Trigonocephaly
ORPHA:77301	PTCH1	5727	HP:0000286	Epicanthus
ORPHA:77301	PTCH1	5727	HP:0000772	Abnormality of the ribs
ORPHA:77301	PTCH1	5727	HP:0010610	Palmar pits
ORPHA:77301	PTCH1	5727	HP:0000568	Microphthalmia
ORPHA:77301	PTCH1	5727	HP:0011968	Feeding difficulties
ORPHA:77301	PTCH1	5727	HP:0000767	Pectus excavatum
ORPHA:77301	PTCH1	5727	HP:0002308	Arnold-Chiari malformation
ORPHA:77301	PTCH1	5727	HP:0002808	Kyphosis
ORPHA:77301	PTCH1	5727	HP:0005616	Accelerated skeletal maturation
ORPHA:77301	PTCH1	5727	HP:0010618	Ovarian fibroma
ORPHA:77301	PTCH1	5727	HP:0000202	Oral cleft
ORPHA:77301	PTCH1	5727	HP:0010617	Cardiac fibroma
ORPHA:77301	PTCH1	5727	HP:0011330	Metopic synostosis
OMIM:615575	FBXO38	81545	HP:0003828	Variable expressivity
OMIM:615575	FBXO38	81545	HP:0031108	Triceps weakness
OMIM:615575	FBXO38	81545	HP:0003394	Muscle cramps
OMIM:615575	FBXO38	81545	HP:0007210	Lower limb amyotrophy
OMIM:615575	FBXO38	81545	HP:0009005	Weakness of the intrinsic hand muscles
OMIM:615575	FBXO38	81545	HP:0007269	Spinal muscular atrophy
OMIM:615575	FBXO38	81545	HP:0000006	Autosomal dominant inheritance
OMIM:615575	FBXO38	81545	HP:0002380	Fasciculations
OMIM:615575	FBXO38	81545	HP:0003444	EMG: chronic denervation signs
OMIM:615575	FBXO38	81545	HP:0003677	Slow progression
OMIM:615575	FBXO38	81545	HP:0007340	Lower limb muscle weakness
OMIM:615575	FBXO38	81545	HP:0002355	Difficulty walking
OMIM:615575	FBXO38	81545	HP:0009046	Difficulty running
OMIM:610688	TMEM67	91147	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:610688	TMEM67	91147	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	TMEM67	91147	HP:0000618	Blindness
OMIM:610688	TMEM67	91147	HP:0001425	Heterogeneous
OMIM:610688	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	TMEM67	91147	HP:0000567	Chorioretinal coloboma
OMIM:610688	TMEM67	91147	HP:0001290	Generalized hypotonia
OMIM:610688	TMEM67	91147	HP:0000546	Retinal degeneration
OMIM:610688	TMEM67	91147	HP:0005957	Breathing dysregulation
OMIM:610688	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:610688	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:610688	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:610688	TMEM67	91147	HP:0001251	Ataxia
OMIM:610688	TMEM67	91147	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:610688	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:610688	TMEM67	91147	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:610688	TMEM67	91147	HP:0001249	Intellectual disability
ORPHA:163937	CASK	8573	HP:0000347	Micrognathia
ORPHA:163937	CASK	8573	HP:0000545	Myopia
ORPHA:163937	CASK	8573	HP:0000639	Nystagmus
ORPHA:163937	CASK	8573	HP:0000486	Strabismus
ORPHA:163937	CASK	8573	HP:0002120	Cerebral cortical atrophy
ORPHA:163937	CASK	8573	HP:0001250	Seizures
ORPHA:163937	CASK	8573	HP:0002342	Intellectual disability, moderate
ORPHA:163937	CASK	8573	HP:0011344	Severe global developmental delay
ORPHA:163937	CASK	8573	HP:0000505	Visual impairment
ORPHA:163937	CASK	8573	HP:0001321	Cerebellar hypoplasia
ORPHA:163937	CASK	8573	HP:0000518	Cataract
ORPHA:163937	CASK	8573	HP:0000400	Macrotia
ORPHA:163937	CASK	8573	HP:0000316	Hypertelorism
ORPHA:163937	CASK	8573	HP:0000343	Long philtrum
ORPHA:163937	CASK	8573	HP:0000407	Sensorineural hearing impairment
ORPHA:163937	CASK	8573	HP:0000252	Microcephaly
ORPHA:163937	CASK	8573	HP:0000431	Wide nasal bridge
ORPHA:163937	CASK	8573	HP:0001288	Gait disturbance
ORPHA:163937	CASK	8573	HP:0000337	Broad forehead
OMIM:600138	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF31	26121	HP:0000618	Blindness
OMIM:600138	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:600138	PRPF31	26121	HP:0003829	Incomplete penetrance
ORPHA:189439	PRKAR1A	5573	HP:0004322	Short stature
ORPHA:189439	PRKAR1A	5573	HP:0000135	Hypogonadism
ORPHA:189439	PRKAR1A	5573	HP:0003202	Skeletal muscle atrophy
ORPHA:189439	PRKAR1A	5573	HP:0000819	Diabetes mellitus
ORPHA:189439	PRKAR1A	5573	HP:0001324	Muscle weakness
ORPHA:189439	PRKAR1A	5573	HP:0000963	Thin skin
ORPHA:189439	PRKAR1A	5573	HP:0001580	Pigmented micronodular adrenocortical disease
ORPHA:189439	PRKAR1A	5573	HP:0012378	Fatigue
ORPHA:189439	PRKAR1A	5573	HP:0001065	Striae distensae
ORPHA:189439	PRKAR1A	5573	HP:0008221	Adrenal hyperplasia
ORPHA:189439	PRKAR1A	5573	HP:0000822	Hypertension
ORPHA:189439	PRKAR1A	5573	HP:0000939	Osteoporosis
ORPHA:189439	PRKAR1A	5573	HP:0001533	Slender build
ORPHA:189439	PRKAR1A	5573	HP:0002659	Increased susceptibility to fractures
ORPHA:189439	PDE11A	50940	HP:0004322	Short stature
ORPHA:189439	PDE11A	50940	HP:0000135	Hypogonadism
ORPHA:189439	PDE11A	50940	HP:0003202	Skeletal muscle atrophy
ORPHA:189439	PDE11A	50940	HP:0000819	Diabetes mellitus
ORPHA:189439	PDE11A	50940	HP:0001324	Muscle weakness
ORPHA:189439	PDE11A	50940	HP:0000963	Thin skin
ORPHA:189439	PDE11A	50940	HP:0001580	Pigmented micronodular adrenocortical disease
ORPHA:189439	PDE11A	50940	HP:0012378	Fatigue
ORPHA:189439	PDE11A	50940	HP:0001065	Striae distensae
ORPHA:189439	PDE11A	50940	HP:0008221	Adrenal hyperplasia
ORPHA:189439	PDE11A	50940	HP:0000822	Hypertension
ORPHA:189439	PDE11A	50940	HP:0000939	Osteoporosis
ORPHA:189439	PDE11A	50940	HP:0001533	Slender build
ORPHA:189439	PDE11A	50940	HP:0002659	Increased susceptibility to fractures
ORPHA:189439	PDE8B	8622	HP:0004322	Short stature
ORPHA:189439	PDE8B	8622	HP:0000135	Hypogonadism
ORPHA:189439	PDE8B	8622	HP:0003202	Skeletal muscle atrophy
ORPHA:189439	PDE8B	8622	HP:0000819	Diabetes mellitus
ORPHA:189439	PDE8B	8622	HP:0001324	Muscle weakness
ORPHA:189439	PDE8B	8622	HP:0000963	Thin skin
ORPHA:189439	PDE8B	8622	HP:0001580	Pigmented micronodular adrenocortical disease
ORPHA:189439	PDE8B	8622	HP:0012378	Fatigue
ORPHA:189439	PDE8B	8622	HP:0001065	Striae distensae
ORPHA:189439	PDE8B	8622	HP:0008221	Adrenal hyperplasia
ORPHA:189439	PDE8B	8622	HP:0000822	Hypertension
ORPHA:189439	PDE8B	8622	HP:0000939	Osteoporosis
ORPHA:189439	PDE8B	8622	HP:0001533	Slender build
ORPHA:189439	PDE8B	8622	HP:0002659	Increased susceptibility to fractures
ORPHA:189439	PRKACA	5566	HP:0004322	Short stature
ORPHA:189439	PRKACA	5566	HP:0000135	Hypogonadism
ORPHA:189439	PRKACA	5566	HP:0003202	Skeletal muscle atrophy
ORPHA:189439	PRKACA	5566	HP:0000819	Diabetes mellitus
ORPHA:189439	PRKACA	5566	HP:0001324	Muscle weakness
ORPHA:189439	PRKACA	5566	HP:0000963	Thin skin
ORPHA:189439	PRKACA	5566	HP:0001580	Pigmented micronodular adrenocortical disease
ORPHA:189439	PRKACA	5566	HP:0012378	Fatigue
ORPHA:189439	PRKACA	5566	HP:0001065	Striae distensae
ORPHA:189439	PRKACA	5566	HP:0008221	Adrenal hyperplasia
ORPHA:189439	PRKACA	5566	HP:0000822	Hypertension
ORPHA:189439	PRKACA	5566	HP:0000939	Osteoporosis
ORPHA:189439	PRKACA	5566	HP:0001533	Slender build
ORPHA:189439	PRKACA	5566	HP:0002659	Increased susceptibility to fractures
OMIM:614483	COL4A2	1284	HP:0001263	Global developmental delay
OMIM:614483	COL4A2	1284	HP:0003829	Incomplete penetrance
OMIM:614483	COL4A2	1284	HP:0001250	Seizures
OMIM:614483	COL4A2	1284	HP:0002132	Porencephalic cyst
OMIM:614483	COL4A2	1284	HP:0001257	Spasticity
OMIM:614483	COL4A2	1284	HP:0002301	Hemiplegia
OMIM:614483	COL4A2	1284	HP:0002170	Intracranial hemorrhage
OMIM:614483	COL4A2	1284	HP:0000006	Autosomal dominant inheritance
OMIM:614483	COL4A2	1284	HP:0003828	Variable expressivity
OMIM:614483	COL4A2	1284	HP:0002119	Ventriculomegaly
ORPHA:721	NBEAL2	23218	HP:0001873	Thrombocytopenia
ORPHA:721	NBEAL2	23218	HP:0000978	Bruising susceptibility
ORPHA:721	NBEAL2	23218	HP:0001744	Splenomegaly
ORPHA:721	NBEAL2	23218	HP:0000421	Epistaxis
ORPHA:721	NBEAL2	23218	HP:0000140	Abnormality of the menstrual cycle
ORPHA:721	NBEAL2	23218	HP:0002863	Myelodysplasia
ORPHA:721	GFI1B	8328	HP:0001873	Thrombocytopenia
ORPHA:721	GFI1B	8328	HP:0000978	Bruising susceptibility
ORPHA:721	GFI1B	8328	HP:0001744	Splenomegaly
ORPHA:721	GFI1B	8328	HP:0000421	Epistaxis
ORPHA:721	GFI1B	8328	HP:0000140	Abnormality of the menstrual cycle
ORPHA:721	GFI1B	8328	HP:0002863	Myelodysplasia
OMIM:158350	PTEN	5728	HP:0001031	Subcutaneous lipoma
OMIM:158350	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:158350	PTEN	5728	HP:0000854	Thyroid adenoma
OMIM:158350	PTEN	5728	HP:0000771	Gynecomastia
OMIM:158350	PTEN	5728	HP:0000160	Narrow mouth
OMIM:158350	PTEN	5728	HP:0010609	Skin tags
OMIM:158350	PTEN	5728	HP:0000853	Goiter
OMIM:158350	PTEN	5728	HP:0002253	Colonic diverticula
OMIM:158350	PTEN	5728	HP:0001250	Seizures
OMIM:158350	PTEN	5728	HP:0000347	Micrognathia
OMIM:158350	PTEN	5728	HP:0000365	Hearing impairment
OMIM:158350	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:158350	PTEN	5728	HP:0000821	Hypothyroidism
OMIM:158350	PTEN	5728	HP:0001256	Intellectual disability, mild
OMIM:158350	PTEN	5728	HP:0002597	Abnormality of the vasculature
OMIM:158350	PTEN	5728	HP:0002858	Meningioma
OMIM:158350	PTEN	5728	HP:0100646	Thyroiditis
OMIM:158350	PTEN	5728	HP:0000138	Ovarian cyst
OMIM:158350	PTEN	5728	HP:0003581	Adult onset
OMIM:158350	PTEN	5728	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	PTEN	5728	HP:0000836	Hyperthyroidism
OMIM:158350	PTEN	5728	HP:0000545	Myopia
OMIM:158350	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:158350	PTEN	5728	HP:0002808	Kyphosis
OMIM:158350	PTEN	5728	HP:0000034	Hydrocele testis
OMIM:158350	PTEN	5728	HP:0000972	Palmoplantar hyperkeratosis
OMIM:158350	PTEN	5728	HP:0000221	Furrowed tongue
OMIM:158350	PTEN	5728	HP:0004481	Progressive macrocephaly
OMIM:158350	PTEN	5728	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:158350	PTEN	5728	HP:0000518	Cataract
OMIM:158350	PTEN	5728	HP:0010619	Fibroadenoma of the breast
OMIM:158350	PTEN	5728	HP:0012871	Varicocele
OMIM:158350	PTEN	5728	HP:0000218	High palate
OMIM:158350	PTEN	5728	HP:0200016	Acrokeratosis
OMIM:158350	PTEN	5728	HP:0004390	Hamartomatous polyposis
OMIM:158350	PTEN	5728	HP:0002650	Scoliosis
OMIM:158350	PTEN	5728	HP:0001102	Angioid streaks of the retina
OMIM:158350	PTEN	5728	HP:0002080	Intention tremor
ORPHA:779	LBR	3930	HP:0000217	Xerostomia
ORPHA:779	LBR	3930	HP:0000988	Skin rash
ORPHA:779	LBR	3930	HP:0003326	Myalgia
ORPHA:779	LBR	3930	HP:0200042	Skin ulcer
ORPHA:779	LBR	3930	HP:0001369	Arthritis
ORPHA:779	LBR	3930	HP:0001945	Fever
ORPHA:779	LBR	3930	HP:0012378	Fatigue
ORPHA:779	LBR	3930	HP:0100579	Mucosal telangiectasiae
ORPHA:779	LBR	3930	HP:0002015	Dysphagia
ORPHA:779	LBR	3930	HP:0001097	Keratoconjunctivitis sicca
ORPHA:779	LBR	3930	HP:0000989	Pruritus
ORPHA:779	LBR	3930	HP:0002240	Hepatomegaly
ORPHA:779	LBR	3930	HP:0004295	Abnormality of the gastric mucosa
ORPHA:779	LBR	3930	HP:0007400	Irregular hyperpigmentation
ORPHA:779	LBR	3930	HP:0002020	Gastroesophageal reflux
ORPHA:779	LBR	3930	HP:0011838	Sclerodactyly
ORPHA:779	LBR	3930	HP:0100585	Telangiectasia of the skin
OMIM:258315	GPC6	10082	HP:0012368	Flat face
OMIM:258315	GPC6	10082	HP:0001631	Atrial septal defect
OMIM:258315	GPC6	10082	HP:0006389	Limited knee flexion
OMIM:258315	GPC6	10082	HP:0000581	Blepharophimosis
OMIM:258315	GPC6	10082	HP:0003066	Limited knee extension
OMIM:258315	GPC6	10082	HP:0000343	Long philtrum
OMIM:258315	GPC6	10082	HP:0003196	Short nose
OMIM:258315	GPC6	10082	HP:0000470	Short neck
OMIM:258315	GPC6	10082	HP:0005736	Short tibia
OMIM:258315	GPC6	10082	HP:0001629	Ventricular septal defect
OMIM:258315	GPC6	10082	HP:0001060	Axillary pterygia
OMIM:258315	GPC6	10082	HP:0008800	Limited hip movement
OMIM:258315	GPC6	10082	HP:0000007	Autosomal recessive inheritance
OMIM:258315	GPC6	10082	HP:0005085	Limited knee flexion/extension
OMIM:258315	GPC6	10082	HP:0006376	Limited elbow flexion
OMIM:258315	GPC6	10082	HP:0005280	Depressed nasal bridge
OMIM:258315	GPC6	10082	HP:0001537	Umbilical hernia
OMIM:258315	GPC6	10082	HP:0004415	Pulmonary artery stenosis
OMIM:258315	GPC6	10082	HP:0000347	Micrognathia
OMIM:258315	GPC6	10082	HP:0002007	Frontal bossing
OMIM:258315	GPC6	10082	HP:0001028	Hemangioma
OMIM:258315	GPC6	10082	HP:0005050	Anterolateral radial head dislocation
OMIM:258315	GPC6	10082	HP:0000272	Malar flattening
OMIM:258315	GPC6	10082	HP:0009756	Popliteal pterygium
OMIM:258315	GPC6	10082	HP:0001377	Limited elbow extension
OMIM:258315	GPC6	10082	HP:0005792	Short humerus
OMIM:258315	GPC6	10082	HP:0012107	Increased fibular diameter
OMIM:258315	GPC6	10082	HP:0000028	Cryptorchidism
OMIM:258315	GPC6	10082	HP:0008905	Rhizomelia
OMIM:258315	GPC6	10082	HP:0000431	Wide nasal bridge
OMIM:258315	GPC6	10082	HP:0000286	Epicanthus
OMIM:258315	GPC6	10082	HP:0008873	Disproportionate short-limb short stature
OMIM:258315	GPC6	10082	HP:0005060	Limited elbow flexion/extension
OMIM:258315	GPC6	10082	HP:0003038	Fibular hypoplasia
OMIM:258315	GPC6	10082	HP:0005025	Hypoplastic distal humeri
ORPHA:1234	RIPK4	54101	HP:0000175	Cleft palate
ORPHA:1234	RIPK4	54101	HP:0001770	Toe syndactyly
ORPHA:1234	RIPK4	54101	HP:0007957	Corneal opacity
ORPHA:1234	RIPK4	54101	HP:0000625	Cleft eyelid
ORPHA:1234	RIPK4	54101	HP:0001800	Hypoplastic toenails
ORPHA:1234	RIPK4	54101	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1234	RIPK4	54101	HP:0009777	Absent thumb
ORPHA:1234	RIPK4	54101	HP:0000160	Narrow mouth
ORPHA:1234	RIPK4	54101	HP:0000161	Median cleft lip
ORPHA:1234	RIPK4	54101	HP:0000430	Underdeveloped nasal alae
ORPHA:1234	RIPK4	54101	HP:0007418	Alopecia totalis
ORPHA:1234	RIPK4	54101	HP:0000252	Microcephaly
ORPHA:1234	RIPK4	54101	HP:0009756	Popliteal pterygium
ORPHA:1234	RIPK4	54101	HP:0003196	Short nose
ORPHA:1234	RIPK4	54101	HP:0001883	Talipes
ORPHA:1234	RIPK4	54101	HP:0200102	Sparse or absent eyelashes
ORPHA:1234	RIPK4	54101	HP:0001249	Intellectual disability
ORPHA:1234	RIPK4	54101	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
ORPHA:1234	RIPK4	54101	HP:0100240	Synostosis of joints
ORPHA:1234	RIPK4	54101	HP:0000050	Hypoplastic male external genitalia
ORPHA:1234	RIPK4	54101	HP:0000347	Micrognathia
ORPHA:1234	RIPK4	54101	HP:0000062	Ambiguous genitalia
ORPHA:1234	RIPK4	54101	HP:0006101	Finger syndactyly
ORPHA:1234	RIPK4	54101	HP:0009755	Ankyloblepharon
OMIM:615490	TRIM2	23321	HP:0002093	Respiratory insufficiency
OMIM:615490	TRIM2	23321	HP:0000007	Autosomal recessive inheritance
OMIM:615490	TRIM2	23321	HP:0001284	Areflexia
OMIM:615490	TRIM2	23321	HP:0001324	Muscle weakness
OMIM:615490	TRIM2	23321	HP:0001761	Pes cavus
OMIM:615490	TRIM2	23321	HP:0003199	Decreased muscle mass
OMIM:615490	TRIM2	23321	HP:0002779	Tracheomalacia
OMIM:615490	TRIM2	23321	HP:0001762	Talipes equinovarus
OMIM:615490	TRIM2	23321	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:615490	TRIM2	23321	HP:0001290	Generalized hypotonia
OMIM:615490	TRIM2	23321	HP:0001605	Vocal cord paralysis
OMIM:615490	TRIM2	23321	HP:0002136	Broad-based gait
OMIM:615490	TRIM2	23321	HP:0003477	Peripheral axonal neuropathy
OMIM:615490	TRIM2	23321	HP:0006380	Knee flexion contracture
OMIM:613074	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MIR96	407053	HP:0000408	Progressive sensorineural hearing impairment
OMIM:613074	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:616026	HNF4A	3172	HP:0004322	Short stature
OMIM:616026	HNF4A	3172	HP:0000121	Nephrocalcinosis
OMIM:616026	HNF4A	3172	HP:0001943	Hypoglycemia
OMIM:616026	HNF4A	3172	HP:0002748	Rickets
OMIM:616026	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:616026	HNF4A	3172	HP:0003076	Glycosuria
OMIM:616026	HNF4A	3172	HP:0003537	Hypouricemia
OMIM:616026	HNF4A	3172	HP:0003355	Aminoaciduria
OMIM:616026	HNF4A	3172	HP:0003109	Hyperphosphaturia
OMIM:616026	HNF4A	3172	HP:0001520	Large for gestational age
OMIM:613686	HES7	84667	HP:0000921	Missing ribs
OMIM:613686	HES7	84667	HP:0003298	Spina bifida occulta
OMIM:613686	HES7	84667	HP:0004322	Short stature
OMIM:613686	HES7	84667	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:613686	HES7	84667	HP:0000902	Rib fusion
OMIM:613686	HES7	84667	HP:0010306	Short thorax
OMIM:613686	HES7	84667	HP:0001696	Situs inversus totalis
OMIM:613686	HES7	84667	HP:0002475	Myelomeningocele
OMIM:613686	HES7	84667	HP:0030323	Unilateral vertebral artery hypoplasia
OMIM:613686	HES7	84667	HP:0003310	Abnormality of the odontoid process
OMIM:613686	HES7	84667	HP:0002937	Hemivertebrae
OMIM:613686	HES7	84667	HP:0003305	Block vertebrae
OMIM:613686	HES7	84667	HP:0000007	Autosomal recessive inheritance
OMIM:136630	DIP2B	57609	HP:0001249	Intellectual disability
OMIM:136630	DIP2B	57609	HP:0003812	Phenotypic variability
OMIM:136630	DIP2B	57609	HP:0000006	Autosomal dominant inheritance
OMIM:136630	DIP2B	57609	HP:0000962	Hyperkeratosis
ORPHA:157973	LMNA	4000	HP:0003307	Hyperlordosis
ORPHA:157973	LMNA	4000	HP:0001252	Muscular hypotonia
ORPHA:157973	LMNA	4000	HP:0003306	Spinal rigidity
ORPHA:157973	LMNA	4000	HP:0001263	Global developmental delay
ORPHA:157973	LMNA	4000	HP:0003327	Axial muscle weakness
ORPHA:157973	LMNA	4000	HP:0001288	Gait disturbance
ORPHA:157973	LMNA	4000	HP:0003198	Myopathy
ORPHA:157973	LMNA	4000	HP:0003457	EMG abnormality
ORPHA:157973	LMNA	4000	HP:0002093	Respiratory insufficiency
ORPHA:157973	LMNA	4000	HP:0001371	Flexion contracture
ORPHA:157973	LMNA	4000	HP:0011968	Feeding difficulties
ORPHA:157973	LMNA	4000	HP:0002421	Poor head control
ORPHA:157973	LMNA	4000	HP:0001376	Limitation of joint mobility
ORPHA:157973	LMNA	4000	HP:0003202	Skeletal muscle atrophy
OMIM:271150	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:271150	SMN1	6606	HP:0002522	Areflexia of lower limbs
OMIM:271150	SMN1	6606	HP:0003677	Slow progression
OMIM:271150	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:271150	SMN1	6606	HP:0003581	Adult onset
OMIM:271150	SMN1	6606	HP:0003701	Proximal muscle weakness
OMIM:271150	SMN1	6606	HP:0003445	EMG: neuropathic changes
OMIM:271150	SMN1	6606	HP:0002378	Hand tremor
OMIM:271150	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:271150	SMN1	6606	HP:0007126	Proximal amyotrophy
OMIM:271150	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:613862	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613862	MERTK	10461	HP:0007401	Macular atrophy
OMIM:613862	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613862	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613862	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613862	MERTK	10461	HP:0200070	Peripheral retinal atrophy
OMIM:613862	MERTK	10461	HP:0000529	Progressive visual loss
OMIM:609241	NAGA	4668	HP:0000007	Autosomal recessive inheritance
OMIM:609241	NAGA	4668	HP:0010864	Intellectual disability, severe
OMIM:609241	NAGA	4668	HP:0000486	Strabismus
OMIM:609241	NAGA	4668	HP:0000938	Osteopenia
OMIM:609241	NAGA	4668	HP:0001263	Global developmental delay
OMIM:609241	NAGA	4668	HP:0001290	Generalized hypotonia
OMIM:609241	NAGA	4668	HP:0001347	Hyperreflexia
OMIM:609241	NAGA	4668	HP:0001336	Myoclonus
OMIM:609241	NAGA	4668	HP:0002376	Developmental regression
OMIM:609241	NAGA	4668	HP:0001257	Spasticity
OMIM:609241	NAGA	4668	HP:0003461	Increased urinary O-linked sialopeptides
OMIM:609241	NAGA	4668	HP:0003593	Infantile onset
OMIM:609241	NAGA	4668	HP:0000639	Nystagmus
OMIM:609241	NAGA	4668	HP:0003700	Generalized amyotrophy
OMIM:609241	NAGA	4668	HP:0000648	Optic atrophy
OMIM:609241	NAGA	4668	HP:0100704	Cortical visual impairment
OMIM:609241	NAGA	4668	HP:0001250	Seizures
OMIM:614970	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TMEM231	79583	HP:0000742	Self-mutilation
OMIM:614970	TMEM231	79583	HP:0001344	Absent speech
OMIM:614970	TMEM231	79583	HP:0100259	Postaxial polydactyly
OMIM:614970	TMEM231	79583	HP:0000107	Renal cyst
OMIM:614970	TMEM231	79583	HP:0001263	Global developmental delay
OMIM:614970	TMEM231	79583	HP:0002093	Respiratory insufficiency
OMIM:614970	TMEM231	79583	HP:0003577	Congenital onset
OMIM:614970	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TMEM231	79583	HP:0000657	Oculomotor apraxia
OMIM:614970	TMEM231	79583	HP:0000718	Aggressive behavior
OMIM:615862	CEP83	51134	HP:0000090	Nephronophthisis
OMIM:615862	CEP83	51134	HP:0000092	Tubular atrophy
OMIM:615862	CEP83	51134	HP:0001970	Tubulointerstitial nephritis
OMIM:615862	CEP83	51134	HP:0000007	Autosomal recessive inheritance
OMIM:615862	CEP83	51134	HP:0003774	Stage 5 chronic kidney disease
OMIM:615862	CEP83	51134	HP:0004722	Thickening of the glomerular basement membrane
OMIM:606690	TSC1	7248	HP:0012798	Pulmonary lymphangiomyomatosis
OMIM:606690	TSC2	7249	HP:0012798	Pulmonary lymphangiomyomatosis
OMIM:617360	CDK13	8621	HP:0000286	Epicanthus
OMIM:617360	CDK13	8621	HP:0000431	Wide nasal bridge
OMIM:617360	CDK13	8621	HP:0000219	Thin upper lip vermilion
OMIM:617360	CDK13	8621	HP:0001263	Global developmental delay
OMIM:617360	CDK13	8621	HP:0001249	Intellectual disability
OMIM:617360	CDK13	8621	HP:0030084	Clinodactyly
OMIM:617360	CDK13	8621	HP:0000322	Short philtrum
OMIM:617360	CDK13	8621	HP:0001631	Atrial septal defect
OMIM:617360	CDK13	8621	HP:0000582	Upslanted palpebral fissure
OMIM:617360	CDK13	8621	HP:0001290	Generalized hypotonia
OMIM:617360	CDK13	8621	HP:0001629	Ventricular septal defect
OMIM:617360	CDK13	8621	HP:0011968	Feeding difficulties
OMIM:617360	CDK13	8621	HP:0000486	Strabismus
OMIM:617360	CDK13	8621	HP:0000508	Ptosis
OMIM:617360	CDK13	8621	HP:0000358	Posteriorly rotated ears
OMIM:617360	CDK13	8621	HP:0001382	Joint hypermobility
OMIM:617360	CDK13	8621	HP:0000750	Delayed speech and language development
OMIM:617360	CDK13	8621	HP:0000160	Narrow mouth
OMIM:617360	CDK13	8621	HP:0000006	Autosomal dominant inheritance
OMIM:617360	CDK13	8621	HP:0000316	Hypertelorism
OMIM:617360	CDK13	8621	HP:0012385	Camptodactyly
ORPHA:570	PLXND1	23129	HP:0000602	Ophthalmoplegia
ORPHA:570	PLXND1	23129	HP:0001608	Abnormality of the voice
ORPHA:570	PLXND1	23129	HP:0000486	Strabismus
ORPHA:570	PLXND1	23129	HP:0001270	Motor delay
ORPHA:570	PLXND1	23129	HP:0000232	Everted lower lip vermilion
ORPHA:570	PLXND1	23129	HP:0000508	Ptosis
ORPHA:570	PLXND1	23129	HP:0001156	Brachydactyly
ORPHA:570	PLXND1	23129	HP:0010628	Facial palsy
ORPHA:570	PLXND1	23129	HP:0007957	Corneal opacity
ORPHA:570	PLXND1	23129	HP:0001252	Muscular hypotonia
ORPHA:570	PLXND1	23129	HP:0000194	Open mouth
ORPHA:570	PLXND1	23129	HP:0008872	Feeding difficulties in infancy
ORPHA:570	PLXND1	23129	HP:0009751	Aplasia of the pectoralis major muscle
ORPHA:570	PLXND1	23129	HP:0000298	Mask-like facies
ORPHA:570	PLXND1	23129	HP:0001762	Talipes equinovarus
ORPHA:570	PLXND1	23129	HP:0002015	Dysphagia
ORPHA:570	REV3L	5980	HP:0000602	Ophthalmoplegia
ORPHA:570	REV3L	5980	HP:0001608	Abnormality of the voice
ORPHA:570	REV3L	5980	HP:0000486	Strabismus
ORPHA:570	REV3L	5980	HP:0001270	Motor delay
ORPHA:570	REV3L	5980	HP:0000232	Everted lower lip vermilion
ORPHA:570	REV3L	5980	HP:0000508	Ptosis
ORPHA:570	REV3L	5980	HP:0001156	Brachydactyly
ORPHA:570	REV3L	5980	HP:0010628	Facial palsy
ORPHA:570	REV3L	5980	HP:0007957	Corneal opacity
ORPHA:570	REV3L	5980	HP:0001252	Muscular hypotonia
ORPHA:570	REV3L	5980	HP:0000194	Open mouth
ORPHA:570	REV3L	5980	HP:0008872	Feeding difficulties in infancy
ORPHA:570	REV3L	5980	HP:0009751	Aplasia of the pectoralis major muscle
ORPHA:570	REV3L	5980	HP:0000298	Mask-like facies
ORPHA:570	REV3L	5980	HP:0001762	Talipes equinovarus
ORPHA:570	REV3L	5980	HP:0002015	Dysphagia
OMIM:615896	KRT71	112802	HP:0001006	Hypotrichosis
OMIM:615896	KRT71	112802	HP:0000006	Autosomal dominant inheritance
OMIM:615896	KRT71	112802	HP:0002224	Woolly hair
OMIM:616949	TDP2	51567	HP:0001251	Ataxia
OMIM:616949	TDP2	51567	HP:0001250	Seizures
OMIM:616949	TDP2	51567	HP:0001249	Intellectual disability
OMIM:616949	TDP2	51567	HP:0000007	Autosomal recessive inheritance
OMIM:617239	SLC18A3	6572	HP:0000602	Ophthalmoplegia
OMIM:617239	SLC18A3	6572	HP:0002104	Apnea
OMIM:617239	SLC18A3	6572	HP:0002355	Difficulty walking
OMIM:617239	SLC18A3	6572	HP:0010628	Facial palsy
OMIM:617239	SLC18A3	6572	HP:0002093	Respiratory insufficiency
OMIM:617239	SLC18A3	6572	HP:0011968	Feeding difficulties
OMIM:617239	SLC18A3	6572	HP:0001290	Generalized hypotonia
OMIM:617239	SLC18A3	6572	HP:0000639	Nystagmus
OMIM:617239	SLC18A3	6572	HP:0006380	Knee flexion contracture
OMIM:617239	SLC18A3	6572	HP:0000508	Ptosis
OMIM:617239	SLC18A3	6572	HP:0000007	Autosomal recessive inheritance
OMIM:617239	SLC18A3	6572	HP:0003546	Exercise intolerance
OMIM:617239	SLC18A3	6572	HP:0012378	Fatigue
OMIM:613796	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:613796	STAT1	6772	HP:0012302	Herpes simplex encephalitis
OMIM:613796	STAT1	6772	HP:0011274	Recurrent mycobacterial infections
OMIM:616313	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616313	CHRNB1	1140	HP:0003577	Congenital onset
OMIM:616313	CHRNB1	1140	HP:0003202	Skeletal muscle atrophy
OMIM:616313	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616313	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:616313	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616313	CHRNB1	1140	HP:0000275	Narrow face
OMIM:616313	CHRNB1	1140	HP:0000218	High palate
OMIM:616313	CHRNB1	1140	HP:0000006	Autosomal dominant inheritance
OMIM:616313	CHRNB1	1140	HP:0000276	Long face
OMIM:616313	CHRNB1	1140	HP:0001319	Neonatal hypotonia
OMIM:616313	CHRNB1	1140	HP:0003388	Easy fatigability
ORPHA:90695	SOX3	6658	HP:0040086	Abnormal prolactin level
ORPHA:90695	SOX3	6658	HP:0010627	Anterior pituitary hypoplasia
ORPHA:90695	SOX3	6658	HP:0012378	Fatigue
ORPHA:90695	SOX3	6658	HP:0008245	Pituitary hypothyroidism
ORPHA:90695	SOX3	6658	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:90695	SOX3	6658	HP:0000141	Amenorrhea
ORPHA:90695	SOX3	6658	HP:0001943	Hypoglycemia
ORPHA:90695	SOX3	6658	HP:0009888	Abnormality of secondary sexual hair
ORPHA:90695	SOX3	6658	HP:0002920	Decreased circulating ACTH level
ORPHA:90695	SOX3	6658	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:90695	SOX3	6658	HP:0002615	Hypotension
ORPHA:90695	SOX3	6658	HP:0008734	Decreased testicular size
ORPHA:90695	SOX3	6658	HP:0000789	Infertility
ORPHA:90695	SOX3	6658	HP:0000457	Depressed nasal ridge
ORPHA:90695	PROP1	5626	HP:0040086	Abnormal prolactin level
ORPHA:90695	PROP1	5626	HP:0010627	Anterior pituitary hypoplasia
ORPHA:90695	PROP1	5626	HP:0012378	Fatigue
ORPHA:90695	PROP1	5626	HP:0008245	Pituitary hypothyroidism
ORPHA:90695	PROP1	5626	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:90695	PROP1	5626	HP:0000141	Amenorrhea
ORPHA:90695	PROP1	5626	HP:0001943	Hypoglycemia
ORPHA:90695	PROP1	5626	HP:0009888	Abnormality of secondary sexual hair
ORPHA:90695	PROP1	5626	HP:0002920	Decreased circulating ACTH level
ORPHA:90695	PROP1	5626	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:90695	PROP1	5626	HP:0002615	Hypotension
ORPHA:90695	PROP1	5626	HP:0008734	Decreased testicular size
ORPHA:90695	PROP1	5626	HP:0000789	Infertility
ORPHA:90695	PROP1	5626	HP:0000457	Depressed nasal ridge
OMIM:616720	COL13A1	1305	HP:0000218	High palate
OMIM:616720	COL13A1	1305	HP:0003577	Congenital onset
OMIM:616720	COL13A1	1305	HP:0000278	Retrognathia
OMIM:616720	COL13A1	1305	HP:0002093	Respiratory insufficiency
OMIM:616720	COL13A1	1305	HP:0000768	Pectus carinatum
OMIM:616720	COL13A1	1305	HP:0001283	Bulbar palsy
OMIM:616720	COL13A1	1305	HP:0011968	Feeding difficulties
OMIM:616720	COL13A1	1305	HP:0002421	Poor head control
OMIM:616720	COL13A1	1305	HP:0000369	Low-set ears
OMIM:616720	COL13A1	1305	HP:0000007	Autosomal recessive inheritance
OMIM:616720	COL13A1	1305	HP:0003546	Exercise intolerance
OMIM:616720	COL13A1	1305	HP:0000347	Micrognathia
OMIM:616720	COL13A1	1305	HP:0001290	Generalized hypotonia
OMIM:616720	COL13A1	1305	HP:0000508	Ptosis
OMIM:616720	COL13A1	1305	HP:0002020	Gastroesophageal reflux
OMIM:616720	COL13A1	1305	HP:0002783	Recurrent lower respiratory tract infections
OMIM:616788	DLX4	1748	HP:0011800	Midface retrusion
OMIM:616788	DLX4	1748	HP:0000411	Protruding ear
OMIM:616788	DLX4	1748	HP:0010294	Palate fistula
OMIM:616788	DLX4	1748	HP:0100271	Hyponasal speech
OMIM:616788	DLX4	1748	HP:0000653	Sparse eyelashes
OMIM:616788	DLX4	1748	HP:0000028	Cryptorchidism
OMIM:616788	DLX4	1748	HP:0100337	Bilateral cleft palate
OMIM:616788	DLX4	1748	HP:0012905	Euryblepharon
OMIM:616788	DLX4	1748	HP:0000286	Epicanthus
OMIM:616788	DLX4	1748	HP:0000369	Low-set ears
OMIM:616788	DLX4	1748	HP:0000316	Hypertelorism
OMIM:616788	DLX4	1748	HP:0000954	Single transverse palmar crease
OMIM:616788	DLX4	1748	HP:0007651	Ectropion of lower eyelids
OMIM:616788	DLX4	1748	HP:0000582	Upslanted palpebral fissure
OMIM:616788	DLX4	1748	HP:0009890	High anterior hairline
OMIM:616788	DLX4	1748	HP:0045075	Sparse eyebrow
OMIM:616788	DLX4	1748	HP:0100336	Bilateral cleft lip
OMIM:616788	DLX4	1748	HP:0000006	Autosomal dominant inheritance
OMIM:616788	DLX4	1748	HP:0200153	Agenesis of lateral incisor
OMIM:616788	DLX4	1748	HP:0000414	Bulbous nose
OMIM:300476	CACNA1F	778	HP:0000545	Myopia
OMIM:300476	CACNA1F	778	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CACNA1F	778	HP:0000505	Visual impairment
OMIM:300476	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:300476	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:300476	CACNA1F	778	HP:0000603	Central scotoma
OMIM:300476	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CACNA1F	778	HP:0001419	X-linked recessive inheritance
OMIM:300476	CACNA1F	778	HP:0008002	Abnormality of macular pigmentation
ORPHA:3071	HRAS	3265	HP:0000486	Strabismus
ORPHA:3071	HRAS	3265	HP:0001561	Polyhydramnios
ORPHA:3071	HRAS	3265	HP:0002750	Delayed skeletal maturation
ORPHA:3071	HRAS	3265	HP:0000179	Thick lower lip vermilion
ORPHA:3071	HRAS	3265	HP:0002224	Woolly hair
ORPHA:3071	HRAS	3265	HP:0000293	Full cheeks
ORPHA:3071	HRAS	3265	HP:0001800	Hypoplastic toenails
ORPHA:3071	HRAS	3265	HP:0004322	Short stature
ORPHA:3071	HRAS	3265	HP:0002120	Cerebral cortical atrophy
ORPHA:3071	HRAS	3265	HP:0000682	Abnormality of dental enamel
ORPHA:3071	HRAS	3265	HP:0000956	Acanthosis nigricans
ORPHA:3071	HRAS	3265	HP:0005692	Joint hyperflexibility
ORPHA:3071	HRAS	3265	HP:0000028	Cryptorchidism
ORPHA:3071	HRAS	3265	HP:0000189	Narrow palate
ORPHA:3071	HRAS	3265	HP:0001231	Abnormality of the fingernails
ORPHA:3071	HRAS	3265	HP:0001634	Mitral valve prolapse
ORPHA:3071	HRAS	3265	HP:0001582	Redundant skin
ORPHA:3071	HRAS	3265	HP:0001642	Pulmonic stenosis
ORPHA:3071	HRAS	3265	HP:0000470	Short neck
ORPHA:3071	HRAS	3265	HP:0001249	Intellectual disability
ORPHA:3071	HRAS	3265	HP:0007477	Abnormal dermatoglyphics
ORPHA:3071	HRAS	3265	HP:0012740	Papilloma
ORPHA:3071	HRAS	3265	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:3071	HRAS	3265	HP:0001629	Ventricular septal defect
ORPHA:3071	HRAS	3265	HP:0009465	Ulnar deviation of finger
ORPHA:3071	HRAS	3265	HP:0000563	Keratoconus
ORPHA:3071	HRAS	3265	HP:0004690	Thickened Achilles tendon
ORPHA:3071	HRAS	3265	HP:0000286	Epicanthus
ORPHA:3071	HRAS	3265	HP:0000474	Thickened nuchal skin fold
ORPHA:3071	HRAS	3265	HP:0002020	Gastroesophageal reflux
ORPHA:3071	HRAS	3265	HP:0001598	Concave nail
ORPHA:3071	HRAS	3265	HP:0001814	Deep-set nails
ORPHA:3071	HRAS	3265	HP:0000158	Macroglossia
ORPHA:3071	HRAS	3265	HP:0001531	Failure to thrive in infancy
ORPHA:3071	HRAS	3265	HP:0100679	Lack of skin elasticity
ORPHA:3071	HRAS	3265	HP:0000256	Macrocephaly
ORPHA:3071	HRAS	3265	HP:0000962	Hyperkeratosis
ORPHA:3071	HRAS	3265	HP:0005280	Depressed nasal bridge
OMIM:610965	ERCC4	2072	HP:0000252	Microcephaly
OMIM:610965	ERCC4	2072	HP:0007495	Prematurely aged appearance
OMIM:610965	ERCC4	2072	HP:0003510	Severe short stature
OMIM:610965	ERCC4	2072	HP:0000490	Deeply set eye
OMIM:610965	ERCC4	2072	HP:0001256	Intellectual disability, mild
OMIM:610965	ERCC4	2072	HP:0001620	High pitched voice
OMIM:610965	ERCC4	2072	HP:0002910	Elevated hepatic transaminases
OMIM:610965	ERCC4	2072	HP:0000958	Dry skin
OMIM:610965	ERCC4	2072	HP:0007519	Lack of subcutaneous fatty tissue
OMIM:610965	ERCC4	2072	HP:0000648	Optic atrophy
OMIM:610965	ERCC4	2072	HP:0000822	Hypertension
OMIM:610965	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:610965	ERCC4	2072	HP:0004326	Cachexia
OMIM:610965	ERCC4	2072	HP:0006297	Hypoplasia of dental enamel
OMIM:610965	ERCC4	2072	HP:0002370	Poor coordination
OMIM:610965	ERCC4	2072	HP:0001541	Ascites
OMIM:610965	ERCC4	2072	HP:0000505	Visual impairment
OMIM:184900	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:184900	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:184900	FBN1	2200	HP:0030053	Stiff skin
OMIM:184900	FBN1	2200	HP:0001371	Flexion contracture
OMIM:614408	MYF6	4618	HP:0001324	Muscle weakness
OMIM:614408	MYF6	4618	HP:0003394	Muscle cramps
OMIM:614408	MYF6	4618	HP:0000006	Autosomal dominant inheritance
OMIM:614408	MYF6	4618	HP:0100305	Ring fibers
OMIM:614408	MYF6	4618	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614815	TCTN3	26123	HP:0000085	Horseshoe kidney
OMIM:614815	TCTN3	26123	HP:0002419	Molar tooth sign on MRI
OMIM:614815	TCTN3	26123	HP:0012385	Camptodactyly
OMIM:614815	TCTN3	26123	HP:0000496	Abnormality of eye movement
OMIM:614815	TCTN3	26123	HP:0010442	Polydactyly
OMIM:614815	TCTN3	26123	HP:0001511	Intrauterine growth retardation
OMIM:614815	TCTN3	26123	HP:0001629	Ventricular septal defect
OMIM:614815	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:614815	TCTN3	26123	HP:0001249	Intellectual disability
OMIM:614815	TCTN3	26123	HP:0002751	Kyphoscoliosis
OMIM:614815	TCTN3	26123	HP:0003812	Phenotypic variability
OMIM:614815	TCTN3	26123	HP:0001388	Joint laxity
OMIM:612463	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612463	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612463	GNAS	2778	HP:0004322	Short stature
OMIM:612463	GNAS	2778	HP:0000293	Full cheeks
OMIM:612463	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612463	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612463	GNAS	2778	HP:0000639	Nystagmus
OMIM:612463	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:612463	GNAS	2778	HP:0000311	Round face
OMIM:612463	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612463	GNAS	2778	HP:0000470	Short neck
OMIM:612463	GNAS	2778	HP:0001513	Obesity
OMIM:612463	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:612463	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:612463	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612463	GNAS	2778	HP:0000518	Cataract
OMIM:612463	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612463	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:231178	PDZD7	79955	HP:0000518	Cataract
ORPHA:231178	PDZD7	79955	HP:0000575	Scotoma
ORPHA:231178	PDZD7	79955	HP:0012377	Hemianopia
ORPHA:231178	PDZD7	79955	HP:0000572	Visual loss
ORPHA:231178	PDZD7	79955	HP:0007730	Iris hypopigmentation
ORPHA:231178	PDZD7	79955	HP:0000512	Abnormal electroretinogram
ORPHA:231178	PDZD7	79955	HP:0000407	Sensorineural hearing impairment
ORPHA:231178	PDZD7	79955	HP:0000662	Nyctalopia
ORPHA:231178	PDZD7	79955	HP:0000545	Myopia
ORPHA:231178	WHRN	25861	HP:0000518	Cataract
ORPHA:231178	WHRN	25861	HP:0000575	Scotoma
ORPHA:231178	WHRN	25861	HP:0012377	Hemianopia
ORPHA:231178	WHRN	25861	HP:0000572	Visual loss
ORPHA:231178	WHRN	25861	HP:0007730	Iris hypopigmentation
ORPHA:231178	WHRN	25861	HP:0000512	Abnormal electroretinogram
ORPHA:231178	WHRN	25861	HP:0000407	Sensorineural hearing impairment
ORPHA:231178	WHRN	25861	HP:0000662	Nyctalopia
ORPHA:231178	WHRN	25861	HP:0000545	Myopia
ORPHA:231178	USH2A	7399	HP:0000518	Cataract
ORPHA:231178	USH2A	7399	HP:0000575	Scotoma
ORPHA:231178	USH2A	7399	HP:0012377	Hemianopia
ORPHA:231178	USH2A	7399	HP:0000572	Visual loss
ORPHA:231178	USH2A	7399	HP:0007730	Iris hypopigmentation
ORPHA:231178	USH2A	7399	HP:0000512	Abnormal electroretinogram
ORPHA:231178	USH2A	7399	HP:0000407	Sensorineural hearing impairment
ORPHA:231178	USH2A	7399	HP:0000662	Nyctalopia
ORPHA:231178	USH2A	7399	HP:0000545	Myopia
ORPHA:231178	MYO7A	4647	HP:0000518	Cataract
ORPHA:231178	MYO7A	4647	HP:0000575	Scotoma
ORPHA:231178	MYO7A	4647	HP:0012377	Hemianopia
ORPHA:231178	MYO7A	4647	HP:0000572	Visual loss
ORPHA:231178	MYO7A	4647	HP:0007730	Iris hypopigmentation
ORPHA:231178	MYO7A	4647	HP:0000512	Abnormal electroretinogram
ORPHA:231178	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
ORPHA:231178	MYO7A	4647	HP:0000662	Nyctalopia
ORPHA:231178	MYO7A	4647	HP:0000545	Myopia
ORPHA:231178	ADGRV1	84059	HP:0000518	Cataract
ORPHA:231178	ADGRV1	84059	HP:0000575	Scotoma
ORPHA:231178	ADGRV1	84059	HP:0012377	Hemianopia
ORPHA:231178	ADGRV1	84059	HP:0000572	Visual loss
ORPHA:231178	ADGRV1	84059	HP:0007730	Iris hypopigmentation
ORPHA:231178	ADGRV1	84059	HP:0000512	Abnormal electroretinogram
ORPHA:231178	ADGRV1	84059	HP:0000407	Sensorineural hearing impairment
ORPHA:231178	ADGRV1	84059	HP:0000662	Nyctalopia
ORPHA:231178	ADGRV1	84059	HP:0000545	Myopia
OMIM:613957	NR5A1	2516	HP:0030974	Cryptozoospermia
OMIM:613957	NR5A1	2516	HP:0000007	Autosomal recessive inheritance
OMIM:613957	NR5A1	2516	HP:0000027	Azoospermia
OMIM:613642	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:613642	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615707	FCGR3A	2214	HP:0002721	Immunodeficiency
OMIM:615707	FCGR3A	2214	HP:0000007	Autosomal recessive inheritance
OMIM:615707	FCGR3A	2214	HP:0002205	Recurrent respiratory infections
OMIM:615707	FCGR3A	2214	HP:0011108	Recurrent sinusitis
OMIM:615707	FCGR3A	2214	HP:0000403	Recurrent otitis media
OMIM:615707	FCGR3A	2214	HP:0000246	Sinusitis
OMIM:120100	NLRP3	114548	HP:0001954	Episodic fever
OMIM:120100	NLRP3	114548	HP:0002315	Headache
OMIM:120100	NLRP3	114548	HP:0000006	Autosomal dominant inheritance
OMIM:120100	NLRP3	114548	HP:0001974	Leukocytosis
OMIM:120100	NLRP3	114548	HP:0002829	Arthralgia
OMIM:120100	NLRP3	114548	HP:0003593	Infantile onset
OMIM:120100	NLRP3	114548	HP:0000509	Conjunctivitis
OMIM:120100	NLRP3	114548	HP:0003326	Myalgia
OMIM:303400	TBX22	50945	HP:0000175	Cleft palate
OMIM:303400	TBX22	50945	HP:0000193	Bifid uvula
OMIM:303400	TBX22	50945	HP:0010296	Ankyloglossia
OMIM:303400	TBX22	50945	HP:0001417	X-linked inheritance
OMIM:617394	DCDC2	51473	HP:0000952	Jaundice
OMIM:617394	DCDC2	51473	HP:0002910	Elevated hepatic transaminases
OMIM:617394	DCDC2	51473	HP:0002240	Hepatomegaly
OMIM:617394	DCDC2	51473	HP:0002613	Biliary cirrhosis
OMIM:617394	DCDC2	51473	HP:0001409	Portal hypertension
OMIM:617394	DCDC2	51473	HP:0003593	Infantile onset
OMIM:617394	DCDC2	51473	HP:0000989	Pruritus
OMIM:617394	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:617394	DCDC2	51473	HP:0003676	Progressive
OMIM:617394	DCDC2	51473	HP:0001394	Cirrhosis
OMIM:617394	DCDC2	51473	HP:0001744	Splenomegaly
OMIM:617394	DCDC2	51473	HP:0030991	Sclerosing cholangitis
OMIM:601386	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CDH23	64072	HP:0000478	Abnormality of the eye
OMIM:613235	F13B	2165	HP:0008357	Reduced factor XIII activity
OMIM:613235	F13B	2165	HP:0000978	Bruising susceptibility
OMIM:613235	F13B	2165	HP:0004846	Prolonged bleeding after surgery
OMIM:613235	F13B	2165	HP:0011884	Abnormal umbilical stump bleeding
OMIM:613235	F13B	2165	HP:0000007	Autosomal recessive inheritance
OMIM:613235	F13B	2165	HP:0003577	Congenital onset
OMIM:134610	MEFV	4210	HP:0002829	Arthralgia
OMIM:134610	MEFV	4210	HP:0000006	Autosomal dominant inheritance
OMIM:134610	MEFV	4210	HP:0100749	Chest pain
OMIM:134610	MEFV	4210	HP:0002102	Pleuritis
OMIM:134610	MEFV	4210	HP:0003621	Juvenile onset
OMIM:134610	MEFV	4210	HP:0001954	Episodic fever
OMIM:134610	MEFV	4210	HP:0000083	Renal insufficiency
OMIM:134610	MEFV	4210	HP:0002027	Abdominal pain
OMIM:134610	MEFV	4210	HP:0005764	Polyarticular arthritis
OMIM:134610	MEFV	4210	HP:0002586	Peritonitis
OMIM:134610	MEFV	4210	HP:0001369	Arthritis
OMIM:134610	MEFV	4210	HP:0001917	Renal amyloidosis
OMIM:134610	MEFV	4210	HP:0000093	Proteinuria
OMIM:305620	FLNA	2316	HP:0002949	Fused cervical vertebrae
OMIM:305620	FLNA	2316	HP:0009768	Broad phalanges of the hand
OMIM:305620	FLNA	2316	HP:0003202	Skeletal muscle atrophy
OMIM:305620	FLNA	2316	HP:0006380	Knee flexion contracture
OMIM:305620	FLNA	2316	HP:0000072	Hydroureter
OMIM:305620	FLNA	2316	HP:0006335	Persistence of primary teeth
OMIM:305620	FLNA	2316	HP:0100490	Camptodactyly of finger
OMIM:305620	FLNA	2316	HP:0000407	Sensorineural hearing impairment
OMIM:305620	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:305620	FLNA	2316	HP:0003779	Antegonial notching of mandible
OMIM:305620	FLNA	2316	HP:0000280	Coarse facial features
OMIM:305620	FLNA	2316	HP:0001166	Arachnodactyly
OMIM:305620	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:305620	FLNA	2316	HP:0001648	Cor pulmonale
OMIM:305620	FLNA	2316	HP:0002700	Large foramen magnum
OMIM:305620	FLNA	2316	HP:0001239	Wrist flexion contracture
OMIM:305620	FLNA	2316	HP:0000689	Dental malocclusion
OMIM:305620	FLNA	2316	HP:0006207	Partial fusion of carpals
OMIM:305620	FLNA	2316	HP:0003691	Scapular winging
OMIM:305620	FLNA	2316	HP:0001833	Long foot
OMIM:305620	FLNA	2316	HP:0000316	Hypertelorism
OMIM:305620	FLNA	2316	HP:0006665	Coat hanger sign of ribs
OMIM:305620	FLNA	2316	HP:0001249	Intellectual disability
OMIM:305620	FLNA	2316	HP:0000431	Wide nasal bridge
OMIM:305620	FLNA	2316	HP:0000218	High palate
OMIM:305620	FLNA	2316	HP:0001007	Hirsutism
OMIM:305620	FLNA	2316	HP:0002650	Scoliosis
OMIM:305620	FLNA	2316	HP:0010307	Stridor
OMIM:305620	FLNA	2316	HP:0002857	Genu valgum
OMIM:305620	FLNA	2316	HP:0006466	Ankle contracture
OMIM:305620	FLNA	2316	HP:0000331	Short chin
OMIM:305620	FLNA	2316	HP:0001592	Selective tooth agenesis
OMIM:305620	FLNA	2316	HP:0008097	Partial fusion of tarsals
OMIM:305620	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:305620	FLNA	2316	HP:0000307	Pointed chin
OMIM:305620	FLNA	2316	HP:0006155	Long phalanx of finger
OMIM:305620	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:305620	FLNA	2316	HP:0006440	Increased density of long bone diaphyses
OMIM:305620	FLNA	2316	HP:0004608	Anteriorly placed odontoid process
OMIM:305620	FLNA	2316	HP:0000684	Delayed eruption of teeth
OMIM:305620	FLNA	2316	HP:0002987	Elbow flexion contracture
OMIM:305620	FLNA	2316	HP:0002673	Coxa valga
OMIM:305620	FLNA	2316	HP:0000336	Prominent supraorbital ridges
ORPHA:35701	HMGCS2	3158	HP:0001250	Seizures
ORPHA:35701	HMGCS2	3158	HP:0001943	Hypoglycemia
OMIM:242900	SMARCAL1	50485	HP:0001888	Lymphopenia
OMIM:242900	SMARCAL1	50485	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:242900	SMARCAL1	50485	HP:0000100	Nephrotic syndrome
OMIM:242900	SMARCAL1	50485	HP:0000007	Autosomal recessive inheritance
OMIM:242900	SMARCAL1	50485	HP:0003300	Ovoid vertebral bodies
OMIM:242900	SMARCAL1	50485	HP:0002326	Transient ischemic attack
OMIM:242900	SMARCAL1	50485	HP:0002942	Thoracic kyphosis
OMIM:242900	SMARCAL1	50485	HP:0000938	Osteopenia
OMIM:242900	SMARCAL1	50485	HP:0002213	Fine hair
OMIM:242900	SMARCAL1	50485	HP:0000097	Focal segmental glomerulosclerosis
OMIM:242900	SMARCAL1	50485	HP:0000926	Platyspondyly
OMIM:242900	SMARCAL1	50485	HP:0001620	High pitched voice
OMIM:242900	SMARCAL1	50485	HP:0002843	Abnormal T cell morphology
OMIM:242900	SMARCAL1	50485	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:242900	SMARCAL1	50485	HP:0001873	Thrombocytopenia
OMIM:242900	SMARCAL1	50485	HP:0000483	Astigmatism
OMIM:242900	SMARCAL1	50485	HP:0000822	Hypertension
OMIM:242900	SMARCAL1	50485	HP:0003182	Shallow acetabular fossae
OMIM:242900	SMARCAL1	50485	HP:0002719	Recurrent infections
OMIM:242900	SMARCAL1	50485	HP:0001903	Anemia
OMIM:242900	SMARCAL1	50485	HP:0005280	Depressed nasal bridge
OMIM:242900	SMARCAL1	50485	HP:0006453	Lateral displacement of the femoral head
OMIM:242900	SMARCAL1	50485	HP:0010701	Abnormal immunoglobulin level
OMIM:242900	SMARCAL1	50485	HP:0000545	Myopia
OMIM:242900	SMARCAL1	50485	HP:0001034	Hypermelanotic macule
OMIM:242900	SMARCAL1	50485	HP:0002634	Arteriosclerosis
OMIM:242900	SMARCAL1	50485	HP:0000414	Bulbous nose
OMIM:242900	SMARCAL1	50485	HP:0001538	Protuberant abdomen
OMIM:242900	SMARCAL1	50485	HP:0003521	Disproportionate short-trunk short stature
OMIM:242900	SMARCAL1	50485	HP:0000470	Short neck
OMIM:242900	SMARCAL1	50485	HP:0002515	Waddling gait
OMIM:242900	SMARCAL1	50485	HP:0001875	Neutropenia
OMIM:242900	SMARCAL1	50485	HP:0007759	Opacification of the corneal stroma
OMIM:242900	SMARCAL1	50485	HP:0002938	Lumbar hyperlordosis
OMIM:242900	SMARCAL1	50485	HP:0000083	Renal insufficiency
OMIM:242900	SMARCAL1	50485	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:242900	SMARCAL1	50485	HP:0001270	Motor delay
OMIM:242900	SMARCAL1	50485	HP:0002208	Coarse hair
OMIM:242900	SMARCAL1	50485	HP:0000093	Proteinuria
OMIM:242900	SMARCAL1	50485	HP:0000691	Microdontia
ORPHA:2190	TBX18	9096	HP:0008676	Congenital megaureter
ORPHA:2190	TBX18	9096	HP:0000126	Hydronephrosis
OMIM:616950	SYCE1	93426	HP:0011961	Non-obstructive azoospermia
OMIM:616950	SYCE1	93426	HP:0000007	Autosomal recessive inheritance
OMIM:136880	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:136880	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:136880	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RLBP1	6017	HP:0012045	Retinal flecks
OMIM:136880	RLBP1	6017	HP:0030642	Fundus albipunctatus
OMIM:136880	RDH5	5959	HP:0000007	Autosomal recessive inheritance
OMIM:136880	RDH5	5959	HP:0000662	Nyctalopia
OMIM:136880	RDH5	5959	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RDH5	5959	HP:0012045	Retinal flecks
OMIM:136880	RDH5	5959	HP:0030642	Fundus albipunctatus
OMIM:136880	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:136880	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:136880	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:136880	PRPH2	5961	HP:0012045	Retinal flecks
OMIM:136880	PRPH2	5961	HP:0030642	Fundus albipunctatus
OMIM:136880	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:136880	RHO	6010	HP:0000662	Nyctalopia
OMIM:136880	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RHO	6010	HP:0012045	Retinal flecks
OMIM:136880	RHO	6010	HP:0030642	Fundus albipunctatus
OMIM:148190	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:148190	PAX6	5080	HP:0000491	Keratitis
OMIM:148190	PAX6	5080	HP:0007759	Opacification of the corneal stroma
OMIM:614213	KIF1A	547	HP:0003676	Progressive
OMIM:614213	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:614213	KIF1A	547	HP:0009830	Peripheral neuropathy
OMIM:614213	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:614213	KIF1A	547	HP:0001284	Areflexia
ORPHA:588	POMT2	29954	HP:0000501	Glaucoma
ORPHA:588	POMT2	29954	HP:0000505	Visual impairment
ORPHA:588	POMT2	29954	HP:0001276	Hypertonia
ORPHA:588	POMT2	29954	HP:0003198	Myopathy
ORPHA:588	POMT2	29954	HP:0100543	Cognitive impairment
ORPHA:588	POMT2	29954	HP:0001252	Muscular hypotonia
ORPHA:588	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	POMT2	29954	HP:0001288	Gait disturbance
ORPHA:588	POMT2	29954	HP:0000545	Myopia
ORPHA:588	POMT2	29954	HP:0001250	Seizures
ORPHA:588	POMT2	29954	HP:0000648	Optic atrophy
ORPHA:588	POMT2	29954	HP:0002353	EEG abnormality
ORPHA:588	POMT2	29954	HP:0000518	Cataract
ORPHA:588	POMT2	29954	HP:0000238	Hydrocephalus
ORPHA:588	POMT2	29954	HP:0001608	Abnormality of the voice
ORPHA:588	POMT2	29954	HP:0000486	Strabismus
ORPHA:588	POMT2	29954	HP:0002167	Neurological speech impairment
ORPHA:588	POMT2	29954	HP:0003457	EMG abnormality
ORPHA:588	GMPPB	29925	HP:0000501	Glaucoma
ORPHA:588	GMPPB	29925	HP:0000505	Visual impairment
ORPHA:588	GMPPB	29925	HP:0001276	Hypertonia
ORPHA:588	GMPPB	29925	HP:0003198	Myopathy
ORPHA:588	GMPPB	29925	HP:0100543	Cognitive impairment
ORPHA:588	GMPPB	29925	HP:0001252	Muscular hypotonia
ORPHA:588	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	GMPPB	29925	HP:0001288	Gait disturbance
ORPHA:588	GMPPB	29925	HP:0000545	Myopia
ORPHA:588	GMPPB	29925	HP:0001250	Seizures
ORPHA:588	GMPPB	29925	HP:0000648	Optic atrophy
ORPHA:588	GMPPB	29925	HP:0002353	EEG abnormality
ORPHA:588	GMPPB	29925	HP:0000518	Cataract
ORPHA:588	GMPPB	29925	HP:0000238	Hydrocephalus
ORPHA:588	GMPPB	29925	HP:0001608	Abnormality of the voice
ORPHA:588	GMPPB	29925	HP:0000486	Strabismus
ORPHA:588	GMPPB	29925	HP:0002167	Neurological speech impairment
ORPHA:588	GMPPB	29925	HP:0003457	EMG abnormality
ORPHA:588	B3GALNT2	148789	HP:0000501	Glaucoma
ORPHA:588	B3GALNT2	148789	HP:0000505	Visual impairment
ORPHA:588	B3GALNT2	148789	HP:0001276	Hypertonia
ORPHA:588	B3GALNT2	148789	HP:0003198	Myopathy
ORPHA:588	B3GALNT2	148789	HP:0100543	Cognitive impairment
ORPHA:588	B3GALNT2	148789	HP:0001252	Muscular hypotonia
ORPHA:588	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	B3GALNT2	148789	HP:0001288	Gait disturbance
ORPHA:588	B3GALNT2	148789	HP:0000545	Myopia
ORPHA:588	B3GALNT2	148789	HP:0001250	Seizures
ORPHA:588	B3GALNT2	148789	HP:0000648	Optic atrophy
ORPHA:588	B3GALNT2	148789	HP:0002353	EEG abnormality
ORPHA:588	B3GALNT2	148789	HP:0000518	Cataract
ORPHA:588	B3GALNT2	148789	HP:0000238	Hydrocephalus
ORPHA:588	B3GALNT2	148789	HP:0001608	Abnormality of the voice
ORPHA:588	B3GALNT2	148789	HP:0000486	Strabismus
ORPHA:588	B3GALNT2	148789	HP:0002167	Neurological speech impairment
ORPHA:588	B3GALNT2	148789	HP:0003457	EMG abnormality
ORPHA:588	POMGNT1	55624	HP:0000501	Glaucoma
ORPHA:588	POMGNT1	55624	HP:0000505	Visual impairment
ORPHA:588	POMGNT1	55624	HP:0001276	Hypertonia
ORPHA:588	POMGNT1	55624	HP:0003198	Myopathy
ORPHA:588	POMGNT1	55624	HP:0100543	Cognitive impairment
ORPHA:588	POMGNT1	55624	HP:0001252	Muscular hypotonia
ORPHA:588	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	POMGNT1	55624	HP:0001288	Gait disturbance
ORPHA:588	POMGNT1	55624	HP:0000545	Myopia
ORPHA:588	POMGNT1	55624	HP:0001250	Seizures
ORPHA:588	POMGNT1	55624	HP:0000648	Optic atrophy
ORPHA:588	POMGNT1	55624	HP:0002353	EEG abnormality
ORPHA:588	POMGNT1	55624	HP:0000518	Cataract
ORPHA:588	POMGNT1	55624	HP:0000238	Hydrocephalus
ORPHA:588	POMGNT1	55624	HP:0001608	Abnormality of the voice
ORPHA:588	POMGNT1	55624	HP:0000486	Strabismus
ORPHA:588	POMGNT1	55624	HP:0002167	Neurological speech impairment
ORPHA:588	POMGNT1	55624	HP:0003457	EMG abnormality
ORPHA:588	POMT1	10585	HP:0000501	Glaucoma
ORPHA:588	POMT1	10585	HP:0000505	Visual impairment
ORPHA:588	POMT1	10585	HP:0001276	Hypertonia
ORPHA:588	POMT1	10585	HP:0003198	Myopathy
ORPHA:588	POMT1	10585	HP:0100543	Cognitive impairment
ORPHA:588	POMT1	10585	HP:0001252	Muscular hypotonia
ORPHA:588	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	POMT1	10585	HP:0001288	Gait disturbance
ORPHA:588	POMT1	10585	HP:0000545	Myopia
ORPHA:588	POMT1	10585	HP:0001250	Seizures
ORPHA:588	POMT1	10585	HP:0000648	Optic atrophy
ORPHA:588	POMT1	10585	HP:0002353	EEG abnormality
ORPHA:588	POMT1	10585	HP:0000518	Cataract
ORPHA:588	POMT1	10585	HP:0000238	Hydrocephalus
ORPHA:588	POMT1	10585	HP:0001608	Abnormality of the voice
ORPHA:588	POMT1	10585	HP:0000486	Strabismus
ORPHA:588	POMT1	10585	HP:0002167	Neurological speech impairment
ORPHA:588	POMT1	10585	HP:0003457	EMG abnormality
ORPHA:588	FKTN	2218	HP:0000501	Glaucoma
ORPHA:588	FKTN	2218	HP:0000505	Visual impairment
ORPHA:588	FKTN	2218	HP:0001276	Hypertonia
ORPHA:588	FKTN	2218	HP:0003198	Myopathy
ORPHA:588	FKTN	2218	HP:0100543	Cognitive impairment
ORPHA:588	FKTN	2218	HP:0001252	Muscular hypotonia
ORPHA:588	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	FKTN	2218	HP:0001288	Gait disturbance
ORPHA:588	FKTN	2218	HP:0000545	Myopia
ORPHA:588	FKTN	2218	HP:0001250	Seizures
ORPHA:588	FKTN	2218	HP:0000648	Optic atrophy
ORPHA:588	FKTN	2218	HP:0002353	EEG abnormality
ORPHA:588	FKTN	2218	HP:0000518	Cataract
ORPHA:588	FKTN	2218	HP:0000238	Hydrocephalus
ORPHA:588	FKTN	2218	HP:0001608	Abnormality of the voice
ORPHA:588	FKTN	2218	HP:0000486	Strabismus
ORPHA:588	FKTN	2218	HP:0002167	Neurological speech impairment
ORPHA:588	FKTN	2218	HP:0003457	EMG abnormality
ORPHA:588	FKRP	79147	HP:0000501	Glaucoma
ORPHA:588	FKRP	79147	HP:0000505	Visual impairment
ORPHA:588	FKRP	79147	HP:0001276	Hypertonia
ORPHA:588	FKRP	79147	HP:0003198	Myopathy
ORPHA:588	FKRP	79147	HP:0100543	Cognitive impairment
ORPHA:588	FKRP	79147	HP:0001252	Muscular hypotonia
ORPHA:588	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	FKRP	79147	HP:0001288	Gait disturbance
ORPHA:588	FKRP	79147	HP:0000545	Myopia
ORPHA:588	FKRP	79147	HP:0001250	Seizures
ORPHA:588	FKRP	79147	HP:0000648	Optic atrophy
ORPHA:588	FKRP	79147	HP:0002353	EEG abnormality
ORPHA:588	FKRP	79147	HP:0000518	Cataract
ORPHA:588	FKRP	79147	HP:0000238	Hydrocephalus
ORPHA:588	FKRP	79147	HP:0001608	Abnormality of the voice
ORPHA:588	FKRP	79147	HP:0000486	Strabismus
ORPHA:588	FKRP	79147	HP:0002167	Neurological speech impairment
ORPHA:588	FKRP	79147	HP:0003457	EMG abnormality
ORPHA:588	LARGE1	9215	HP:0000501	Glaucoma
ORPHA:588	LARGE1	9215	HP:0000505	Visual impairment
ORPHA:588	LARGE1	9215	HP:0001276	Hypertonia
ORPHA:588	LARGE1	9215	HP:0003198	Myopathy
ORPHA:588	LARGE1	9215	HP:0100543	Cognitive impairment
ORPHA:588	LARGE1	9215	HP:0001252	Muscular hypotonia
ORPHA:588	LARGE1	9215	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:588	LARGE1	9215	HP:0001288	Gait disturbance
ORPHA:588	LARGE1	9215	HP:0000545	Myopia
ORPHA:588	LARGE1	9215	HP:0001250	Seizures
ORPHA:588	LARGE1	9215	HP:0000648	Optic atrophy
ORPHA:588	LARGE1	9215	HP:0002353	EEG abnormality
ORPHA:588	LARGE1	9215	HP:0000518	Cataract
ORPHA:588	LARGE1	9215	HP:0000238	Hydrocephalus
ORPHA:588	LARGE1	9215	HP:0001608	Abnormality of the voice
ORPHA:588	LARGE1	9215	HP:0000486	Strabismus
ORPHA:588	LARGE1	9215	HP:0002167	Neurological speech impairment
ORPHA:588	LARGE1	9215	HP:0003457	EMG abnormality
OMIM:615139	POLE	5426	HP:0001999	Abnormal facial shape
OMIM:615139	POLE	5426	HP:0004482	Relative macrocephaly
OMIM:615139	POLE	5426	HP:0003577	Congenital onset
OMIM:615139	POLE	5426	HP:0000007	Autosomal recessive inheritance
OMIM:615139	POLE	5426	HP:0002721	Immunodeficiency
OMIM:615139	POLE	5426	HP:0007421	Telangiectases of the cheeks
OMIM:615139	POLE	5426	HP:0000272	Malar flattening
OMIM:615139	POLE	5426	HP:0000337	Broad forehead
OMIM:615139	POLE	5426	HP:0004322	Short stature
OMIM:615139	POLE	5426	HP:0002205	Recurrent respiratory infections
OMIM:266500	PHYH	5264	HP:0000546	Retinal degeneration
OMIM:266500	PHYH	5264	HP:0000616	Miosis
OMIM:266500	PHYH	5264	HP:0003690	Limb muscle weakness
OMIM:266500	PHYH	5264	HP:0000458	Anosmia
OMIM:266500	PHYH	5264	HP:0001265	Hyporeflexia
OMIM:266500	PHYH	5264	HP:0011675	Arrhythmia
OMIM:266500	PHYH	5264	HP:0000662	Nyctalopia
OMIM:266500	PHYH	5264	HP:0001635	Congestive heart failure
OMIM:266500	PHYH	5264	HP:0000508	Ptosis
OMIM:266500	PHYH	5264	HP:0000518	Cataract
OMIM:266500	PHYH	5264	HP:0001640	Cardiomegaly
OMIM:266500	PHYH	5264	HP:0000007	Autosomal recessive inheritance
OMIM:266500	PHYH	5264	HP:0007141	Sensorimotor neuropathy
OMIM:266500	PHYH	5264	HP:0004689	Short fourth metatarsal
OMIM:266500	PHYH	5264	HP:0002922	Increased CSF protein
OMIM:266500	PHYH	5264	HP:0001251	Ataxia
OMIM:266500	PHYH	5264	HP:0010571	Elevated levels of phytanic acid
OMIM:266500	PHYH	5264	HP:0000407	Sensorineural hearing impairment
OMIM:266500	PHYH	5264	HP:0002654	Multiple epiphyseal dysplasia
OMIM:266500	PHYH	5264	HP:0008064	Ichthyosis
OMIM:266500	PHYH	5264	HP:0000510	Rod-cone dystrophy
OMIM:266500	PHYH	5264	HP:0001638	Cardiomyopathy
OMIM:266500	PHYH	5264	HP:0000639	Nystagmus
OMIM:266500	PHYH	5264	HP:0001761	Pes cavus
OMIM:266500	PHYH	5264	HP:0003474	Sensory impairment
OMIM:266500	PEX7	5191	HP:0000546	Retinal degeneration
OMIM:266500	PEX7	5191	HP:0000616	Miosis
OMIM:266500	PEX7	5191	HP:0003690	Limb muscle weakness
OMIM:266500	PEX7	5191	HP:0000458	Anosmia
OMIM:266500	PEX7	5191	HP:0001265	Hyporeflexia
OMIM:266500	PEX7	5191	HP:0011675	Arrhythmia
OMIM:266500	PEX7	5191	HP:0000662	Nyctalopia
OMIM:266500	PEX7	5191	HP:0001635	Congestive heart failure
OMIM:266500	PEX7	5191	HP:0000508	Ptosis
OMIM:266500	PEX7	5191	HP:0000518	Cataract
OMIM:266500	PEX7	5191	HP:0001640	Cardiomegaly
OMIM:266500	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:266500	PEX7	5191	HP:0007141	Sensorimotor neuropathy
OMIM:266500	PEX7	5191	HP:0004689	Short fourth metatarsal
OMIM:266500	PEX7	5191	HP:0002922	Increased CSF protein
OMIM:266500	PEX7	5191	HP:0001251	Ataxia
OMIM:266500	PEX7	5191	HP:0010571	Elevated levels of phytanic acid
OMIM:266500	PEX7	5191	HP:0000407	Sensorineural hearing impairment
OMIM:266500	PEX7	5191	HP:0002654	Multiple epiphyseal dysplasia
OMIM:266500	PEX7	5191	HP:0008064	Ichthyosis
OMIM:266500	PEX7	5191	HP:0000510	Rod-cone dystrophy
OMIM:266500	PEX7	5191	HP:0001638	Cardiomyopathy
OMIM:266500	PEX7	5191	HP:0000639	Nystagmus
OMIM:266500	PEX7	5191	HP:0001761	Pes cavus
OMIM:266500	PEX7	5191	HP:0003474	Sensory impairment
OMIM:613803	ORC6	23594	HP:0000160	Narrow mouth
OMIM:613803	ORC6	23594	HP:0006532	Recurrent pneumonia
OMIM:613803	ORC6	23594	HP:0002970	Genu varum
OMIM:613803	ORC6	23594	HP:0001601	Laryngomalacia
OMIM:613803	ORC6	23594	HP:0003561	Birth length less than 3rd percentile
OMIM:613803	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:613803	ORC6	23594	HP:0000046	Scrotal hypoplasia
OMIM:613803	ORC6	23594	HP:0000773	Short ribs
OMIM:613803	ORC6	23594	HP:0003100	Slender long bone
OMIM:613803	ORC6	23594	HP:0002812	Coxa vara
OMIM:613803	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	ORC6	23594	HP:0000369	Low-set ears
OMIM:613803	ORC6	23594	HP:0000358	Posteriorly rotated ears
OMIM:613803	ORC6	23594	HP:0001508	Failure to thrive
OMIM:613803	ORC6	23594	HP:0002779	Tracheomalacia
OMIM:613803	ORC6	23594	HP:0000054	Micropenis
OMIM:613803	ORC6	23594	HP:0000774	Narrow chest
OMIM:613803	ORC6	23594	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	ORC6	23594	HP:0000308	Microretrognathia
OMIM:613803	ORC6	23594	HP:0011968	Feeding difficulties
OMIM:613803	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:613803	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:613803	ORC6	23594	HP:0008551	Microtia
OMIM:613803	ORC6	23594	HP:0000252	Microcephaly
OMIM:613803	ORC6	23594	HP:0002094	Dyspnea
OMIM:613803	ORC6	23594	HP:0001762	Talipes equinovarus
OMIM:613803	ORC6	23594	HP:0002020	Gastroesophageal reflux
OMIM:613803	ORC6	23594	HP:0010306	Short thorax
OMIM:613803	ORC6	23594	HP:0000325	Triangular face
OMIM:613803	ORC6	23594	HP:0000028	Cryptorchidism
OMIM:613803	ORC6	23594	HP:0006628	Absent sternal ossification
OMIM:613803	ORC6	23594	HP:0000179	Thick lower lip vermilion
OMIM:613803	ORC6	23594	HP:0000426	Prominent nasal bridge
OMIM:613803	ORC6	23594	HP:0008665	Clitoral hypertrophy
OMIM:613803	ORC6	23594	HP:0000047	Hypospadias
OMIM:613803	ORC6	23594	HP:0000494	Downslanted palpebral fissures
OMIM:613803	ORC6	23594	HP:0002780	Bronchomalacia
OMIM:613803	ORC6	23594	HP:0003187	Breast hypoplasia
OMIM:240800	ABCC8	6833	HP:0001259	Coma
OMIM:240800	ABCC8	6833	HP:0000486	Strabismus
OMIM:240800	ABCC8	6833	HP:0001943	Hypoglycemia
OMIM:240800	ABCC8	6833	HP:0001249	Intellectual disability
OMIM:240800	ABCC8	6833	HP:0001251	Ataxia
OMIM:240800	ABCC8	6833	HP:0002329	Drowsiness
OMIM:240800	ABCC8	6833	HP:0000737	Irritability
OMIM:240800	ABCC8	6833	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:240800	ABCC8	6833	HP:0000007	Autosomal recessive inheritance
OMIM:240800	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:240800	ABCC8	6833	HP:0001257	Spasticity
OMIM:240800	ABCC8	6833	HP:0001347	Hyperreflexia
OMIM:611451	LRTOMT	220074	HP:0003577	Congenital onset
OMIM:611451	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:611451	LRTOMT	220074	HP:0008527	Congenital sensorineural hearing impairment
ORPHA:79396	KRT14	3861	HP:0000982	Palmoplantar keratoderma
ORPHA:79396	KRT14	3861	HP:0001581	Recurrent skin infections
ORPHA:79396	KRT14	3861	HP:0001056	Milia
ORPHA:79396	KRT14	3861	HP:0001075	Atrophic scars
ORPHA:79396	KRT14	3861	HP:0008404	Nail dystrophy
ORPHA:79396	KRT14	3861	HP:0200037	Skin vesicle
ORPHA:79396	KRT5	3852	HP:0000982	Palmoplantar keratoderma
ORPHA:79396	KRT5	3852	HP:0001581	Recurrent skin infections
ORPHA:79396	KRT5	3852	HP:0001056	Milia
ORPHA:79396	KRT5	3852	HP:0001075	Atrophic scars
ORPHA:79396	KRT5	3852	HP:0008404	Nail dystrophy
ORPHA:79396	KRT5	3852	HP:0200037	Skin vesicle
OMIM:617205	PKD1L1	168507	HP:0011579	Unbalanced atrioventricular canal defect
OMIM:617205	PKD1L1	168507	HP:0004935	Pulmonary artery atresia
OMIM:617205	PKD1L1	168507	HP:0001629	Ventricular septal defect
OMIM:617205	PKD1L1	168507	HP:0011539	Atrial situs ambiguous
OMIM:617205	PKD1L1	168507	HP:0003363	Abdominal situs inversus
OMIM:617205	PKD1L1	168507	HP:0000007	Autosomal recessive inheritance
OMIM:617205	PKD1L1	168507	HP:0001719	Double outlet right ventricle
OMIM:223900	ELP1	8518	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:223900	ELP1	8518	HP:0002014	Diarrhea
OMIM:223900	ELP1	8518	HP:0000712	Emotional lability
OMIM:223900	ELP1	8518	HP:0012211	Abnormal renal physiology
OMIM:223900	ELP1	8518	HP:0000522	Alacrima
OMIM:223900	ELP1	8518	HP:0002650	Scoliosis
OMIM:223900	ELP1	8518	HP:0001063	Acrocyanosis
OMIM:223900	ELP1	8518	HP:0003577	Congenital onset
OMIM:223900	ELP1	8518	HP:0012804	Corneal ulceration
OMIM:223900	ELP1	8518	HP:0000224	Decreased taste sensation
OMIM:223900	ELP1	8518	HP:0001265	Hyporeflexia
OMIM:223900	ELP1	8518	HP:0002019	Constipation
OMIM:223900	ELP1	8518	HP:0001290	Generalized hypotonia
OMIM:223900	ELP1	8518	HP:0004891	Recurrent infections due to aspiration
OMIM:223900	ELP1	8518	HP:0001069	Episodic hyperhidrosis
OMIM:223900	ELP1	8518	HP:0003259	Elevated serum creatinine
OMIM:223900	ELP1	8518	HP:0008872	Feeding difficulties in infancy
OMIM:223900	ELP1	8518	HP:0001649	Tachycardia
OMIM:223900	ELP1	8518	HP:0000007	Autosomal recessive inheritance
OMIM:223900	ELP1	8518	HP:0002311	Incoordination
OMIM:223900	ELP1	8518	HP:0008000	Decreased corneal reflex
OMIM:223900	ELP1	8518	HP:0002821	Neuropathic arthropathy
OMIM:223900	ELP1	8518	HP:0000822	Hypertension
OMIM:223900	ELP1	8518	HP:0002013	Vomiting
OMIM:223900	ELP1	8518	HP:0001954	Episodic fever
OMIM:223900	ELP1	8518	HP:0003138	Increased blood urea nitrogen
OMIM:223900	ELP1	8518	HP:0005947	Decreased sensitivity to hypoxemia
OMIM:223900	ELP1	8518	HP:0000096	Glomerulosclerosis
OMIM:223900	ELP1	8518	HP:0000495	Recurrent corneal erosions
OMIM:223900	ELP1	8518	HP:0003676	Progressive
OMIM:223900	ELP1	8518	HP:0001278	Orthostatic hypotension
OMIM:223900	ELP1	8518	HP:0001510	Growth delay
OMIM:223900	ELP1	8518	HP:0002020	Gastroesophageal reflux
OMIM:168300	SCN4A	6329	HP:0003812	Phenotypic variability
OMIM:168300	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:168300	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:168300	SCN4A	6329	HP:0003593	Infantile onset
OMIM:168300	SCN4A	6329	HP:0011809	Paradoxical myotonia
OMIM:168300	SCN4A	6329	HP:0010548	Percussion myotonia
OMIM:168300	SCN4A	6329	HP:0003552	Muscle stiffness
OMIM:168300	SCN4A	6329	HP:0003712	Skeletal muscle hypertrophy
OMIM:168300	SCN4A	6329	HP:0001324	Muscle weakness
OMIM:168300	SCN4A	6329	HP:0003326	Myalgia
OMIM:168300	SCN4A	6329	HP:0005348	Inspiratory stridor
OMIM:168300	SCN4A	6329	HP:0012899	Handgrip myotonia
ORPHA:79501	AAGAB	79719	HP:0002894	Neoplasm of the pancreas
ORPHA:79501	AAGAB	79719	HP:0000982	Palmoplantar keratoderma
ORPHA:79501	AAGAB	79719	HP:0003002	Breast carcinoma
ORPHA:79501	AAGAB	79719	HP:0012189	Hodgkin lymphoma
ORPHA:79501	AAGAB	79719	HP:0003003	Colon cancer
ORPHA:79501	AAGAB	79719	HP:0006740	Transitional cell carcinoma of the bladder
ORPHA:79501	AAGAB	79719	HP:0005584	Renal cell carcinoma
ORPHA:79501	COL14A1	7373	HP:0002894	Neoplasm of the pancreas
ORPHA:79501	COL14A1	7373	HP:0000982	Palmoplantar keratoderma
ORPHA:79501	COL14A1	7373	HP:0003002	Breast carcinoma
ORPHA:79501	COL14A1	7373	HP:0012189	Hodgkin lymphoma
ORPHA:79501	COL14A1	7373	HP:0003003	Colon cancer
ORPHA:79501	COL14A1	7373	HP:0006740	Transitional cell carcinoma of the bladder
ORPHA:79501	COL14A1	7373	HP:0005584	Renal cell carcinoma
ORPHA:99879	CDC73	79577	HP:0000121	Nephrocalcinosis
ORPHA:99879	CDC73	79577	HP:0008200	Primary hyperparathyroidism
ORPHA:99879	CDC73	79577	HP:0003109	Hyperphosphaturia
ORPHA:99879	CDC73	79577	HP:0008250	Infantile hypercalcemia
ORPHA:99879	CDC73	79577	HP:0000938	Osteopenia
ORPHA:99879	CDC73	79577	HP:0002148	Hypophosphatemia
ORPHA:99879	CDC73	79577	HP:0040160	Generalized osteoporosis
ORPHA:99879	CDC73	79577	HP:0002897	Parathyroid adenoma
ORPHA:99879	CDC73	79577	HP:0002150	Hypercalciuria
ORPHA:99879	CDC73	79577	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:99879	CDC73	79577	HP:0000934	Chondrocalcinosis
ORPHA:99879	MEN1	4221	HP:0000121	Nephrocalcinosis
ORPHA:99879	MEN1	4221	HP:0008200	Primary hyperparathyroidism
ORPHA:99879	MEN1	4221	HP:0003109	Hyperphosphaturia
ORPHA:99879	MEN1	4221	HP:0008250	Infantile hypercalcemia
ORPHA:99879	MEN1	4221	HP:0000938	Osteopenia
ORPHA:99879	MEN1	4221	HP:0002148	Hypophosphatemia
ORPHA:99879	MEN1	4221	HP:0040160	Generalized osteoporosis
ORPHA:99879	MEN1	4221	HP:0002897	Parathyroid adenoma
ORPHA:99879	MEN1	4221	HP:0002150	Hypercalciuria
ORPHA:99879	MEN1	4221	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:99879	MEN1	4221	HP:0000934	Chondrocalcinosis
ORPHA:99879	GCM2	9247	HP:0000121	Nephrocalcinosis
ORPHA:99879	GCM2	9247	HP:0008200	Primary hyperparathyroidism
ORPHA:99879	GCM2	9247	HP:0003109	Hyperphosphaturia
ORPHA:99879	GCM2	9247	HP:0008250	Infantile hypercalcemia
ORPHA:99879	GCM2	9247	HP:0000938	Osteopenia
ORPHA:99879	GCM2	9247	HP:0002148	Hypophosphatemia
ORPHA:99879	GCM2	9247	HP:0040160	Generalized osteoporosis
ORPHA:99879	GCM2	9247	HP:0002897	Parathyroid adenoma
ORPHA:99879	GCM2	9247	HP:0002150	Hypercalciuria
ORPHA:99879	GCM2	9247	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:99879	GCM2	9247	HP:0000934	Chondrocalcinosis
ORPHA:75234	LIPA	3988	HP:0001399	Hepatic failure
ORPHA:75234	LIPA	3988	HP:0002014	Diarrhea
ORPHA:75234	LIPA	3988	HP:0002240	Hepatomegaly
ORPHA:75234	LIPA	3988	HP:0002155	Hypertriglyceridemia
ORPHA:75234	LIPA	3988	HP:0002017	Nausea and vomiting
ORPHA:75234	LIPA	3988	HP:0003124	Hypercholesterolemia
ORPHA:75234	LIPA	3988	HP:0001744	Splenomegaly
ORPHA:75234	LIPA	3988	HP:0002634	Arteriosclerosis
OMIM:614196	PTPRO	5800	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614196	PTPRO	5800	HP:0000007	Autosomal recessive inheritance
OMIM:614196	PTPRO	5800	HP:0000093	Proteinuria
OMIM:614196	PTPRO	5800	HP:0005576	Tubulointerstitial fibrosis
OMIM:614196	PTPRO	5800	HP:0003828	Variable expressivity
OMIM:614196	PTPRO	5800	HP:0000100	Nephrotic syndrome
OMIM:614196	PTPRO	5800	HP:0003073	Hypoalbuminemia
OMIM:614196	PTPRO	5800	HP:0000969	Edema
OMIM:617120	B9D1	27077	HP:0001249	Intellectual disability
OMIM:617120	B9D1	27077	HP:0001251	Ataxia
OMIM:617120	B9D1	27077	HP:0001290	Generalized hypotonia
OMIM:617120	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:617120	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:617120	B9D1	27077	HP:0001263	Global developmental delay
OMIM:617120	B9D1	27077	HP:0000639	Nystagmus
OMIM:617120	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614162	STAT1	6772	HP:0003812	Phenotypic variability
OMIM:614162	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:614162	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	STAT1	6772	HP:0002205	Recurrent respiratory infections
OMIM:614162	STAT1	6772	HP:0001888	Lymphopenia
OMIM:614162	STAT1	6772	HP:0002721	Immunodeficiency
OMIM:614162	STAT1	6772	HP:0002958	Immune dysregulation
OMIM:132400	COMP	1311	HP:0002857	Genu valgum
OMIM:132400	COMP	1311	HP:0003502	Mild short stature
OMIM:132400	COMP	1311	HP:0000006	Autosomal dominant inheritance
OMIM:132400	COMP	1311	HP:0003301	Irregular vertebral endplates
OMIM:132400	COMP	1311	HP:0008843	Hip osteoarthritis
OMIM:132400	COMP	1311	HP:0002761	Generalized joint laxity
OMIM:132400	COMP	1311	HP:0003300	Ovoid vertebral bodies
OMIM:132400	COMP	1311	HP:0100864	Short femoral neck
OMIM:132400	COMP	1311	HP:0008800	Limited hip movement
OMIM:132400	COMP	1311	HP:0006429	Broad femoral neck
OMIM:132400	COMP	1311	HP:0001387	Joint stiffness
OMIM:132400	COMP	1311	HP:0003510	Severe short stature
OMIM:132400	COMP	1311	HP:0001425	Heterogeneous
OMIM:132400	COMP	1311	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:132400	COMP	1311	HP:0008873	Disproportionate short-limb short stature
OMIM:132400	COMP	1311	HP:0010049	Short metacarpal
OMIM:132400	COMP	1311	HP:0002656	Epiphyseal dysplasia
OMIM:132400	COMP	1311	HP:0002663	Delayed epiphyseal ossification
OMIM:132400	COMP	1311	HP:0010585	Small epiphyses
OMIM:132400	COMP	1311	HP:0009803	Short phalanx of finger
OMIM:132400	COMP	1311	HP:0002515	Waddling gait
OMIM:132400	COMP	1311	HP:0010582	Irregular epiphyses
ORPHA:171866	ACAN	176	HP:0002938	Lumbar hyperlordosis
ORPHA:171866	ACAN	176	HP:0001552	Barrel-shaped chest
ORPHA:171866	ACAN	176	HP:0000303	Mandibular prognathia
ORPHA:171866	ACAN	176	HP:0004482	Relative macrocephaly
ORPHA:171866	ACAN	176	HP:0008905	Rhizomelia
ORPHA:171866	ACAN	176	HP:0011800	Midface retrusion
ORPHA:171866	ACAN	176	HP:0001597	Abnormality of the nail
ORPHA:171866	ACAN	176	HP:0001609	Hoarse voice
ORPHA:171866	ACAN	176	HP:0002795	Functional respiratory abnormality
ORPHA:171866	ACAN	176	HP:0011304	Broad thumb
ORPHA:171866	ACAN	176	HP:0000470	Short neck
ORPHA:171866	ACAN	176	HP:0003027	Mesomelia
ORPHA:171866	ACAN	176	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:171866	ACAN	176	HP:0001388	Joint laxity
ORPHA:171866	ACAN	176	HP:0005285	Absent nasal bridge
ORPHA:171866	ACAN	176	HP:0001156	Brachydactyly
ORPHA:66631	SNAP29	9342	HP:0001302	Pachygyria
ORPHA:66631	SNAP29	9342	HP:0002421	Poor head control
ORPHA:66631	SNAP29	9342	HP:0000496	Abnormality of eye movement
ORPHA:66631	SNAP29	9342	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:66631	SNAP29	9342	HP:0007435	Diffuse palmoplantar keratoderma
ORPHA:66631	SNAP29	9342	HP:0001263	Global developmental delay
ORPHA:66631	SNAP29	9342	HP:0002126	Polymicrogyria
ORPHA:66631	SNAP29	9342	HP:0001273	Abnormality of the corpus callosum
ORPHA:66631	SNAP29	9342	HP:0000426	Prominent nasal bridge
ORPHA:66631	SNAP29	9342	HP:0000648	Optic atrophy
ORPHA:66631	SNAP29	9342	HP:0000494	Downslanted palpebral fissures
ORPHA:66631	SNAP29	9342	HP:0001284	Areflexia
ORPHA:66631	SNAP29	9342	HP:0008064	Ichthyosis
ORPHA:66631	SNAP29	9342	HP:0000316	Hypertelorism
ORPHA:66631	SNAP29	9342	HP:0009830	Peripheral neuropathy
ORPHA:66631	SNAP29	9342	HP:0000276	Long face
ORPHA:66631	SNAP29	9342	HP:0001249	Intellectual disability
ORPHA:66631	SNAP29	9342	HP:0000252	Microcephaly
ORPHA:66631	SNAP29	9342	HP:0001251	Ataxia
OMIM:601472	GARS	2617	HP:0003674	Onset
OMIM:601472	GARS	2617	HP:0003426	First dorsal interossei muscle atrophy
OMIM:601472	GARS	2617	HP:0003392	First dorsal interossei muscle weakness
OMIM:601472	GARS	2617	HP:0003435	Cold-induced hand cramps
OMIM:601472	GARS	2617	HP:0001265	Hyporeflexia
OMIM:601472	GARS	2617	HP:0003677	Slow progression
OMIM:601472	GARS	2617	HP:0009129	Upper limb amyotrophy
OMIM:601472	GARS	2617	HP:0002936	Distal sensory impairment
OMIM:601472	GARS	2617	HP:0003393	Thenar muscle atrophy
OMIM:601472	GARS	2617	HP:0003427	Thenar muscle weakness
OMIM:601472	GARS	2617	HP:0001765	Hammertoe
OMIM:601472	GARS	2617	HP:0000006	Autosomal dominant inheritance
OMIM:601472	GARS	2617	HP:0001761	Pes cavus
OMIM:601472	GARS	2617	HP:0002650	Scoliosis
OMIM:601472	GARS	2617	HP:0003693	Distal amyotrophy
OMIM:601472	GARS	2617	HP:0003484	Upper limb muscle weakness
ORPHA:3115	PMP22	5376	HP:0003382	Hypertrophic nerve changes
ORPHA:3115	PMP22	5376	HP:0001284	Areflexia
ORPHA:3115	PMP22	5376	HP:0001288	Gait disturbance
ORPHA:3115	PMP22	5376	HP:0001265	Hyporeflexia
ORPHA:3115	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
ORPHA:3115	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
ORPHA:3115	PMP22	5376	HP:0003693	Distal amyotrophy
ORPHA:3115	MPZ	4359	HP:0003382	Hypertrophic nerve changes
ORPHA:3115	MPZ	4359	HP:0001284	Areflexia
ORPHA:3115	MPZ	4359	HP:0001288	Gait disturbance
ORPHA:3115	MPZ	4359	HP:0001265	Hyporeflexia
ORPHA:3115	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
ORPHA:3115	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
ORPHA:3115	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:203450	GFAP	2670	HP:0001250	Seizures
OMIM:203450	GFAP	2670	HP:0002483	Bulbar signs
OMIM:203450	GFAP	2670	HP:0001251	Ataxia
OMIM:203450	GFAP	2670	HP:0007162	Diffuse demyelination of the cerebral white matter
OMIM:203450	GFAP	2670	HP:0002376	Developmental regression
OMIM:203450	GFAP	2670	HP:0004481	Progressive macrocephaly
OMIM:203450	GFAP	2670	HP:0000238	Hydrocephalus
OMIM:203450	GFAP	2670	HP:0000006	Autosomal dominant inheritance
OMIM:203450	GFAP	2670	HP:0002922	Increased CSF protein
OMIM:203450	GFAP	2670	HP:0003593	Infantile onset
OMIM:203450	GFAP	2670	HP:0001257	Spasticity
OMIM:225060	NECTIN1	5818	HP:0000272	Malar flattening
OMIM:225060	NECTIN1	5818	HP:0010621	Cutaneous syndactyly of toes
OMIM:225060	NECTIN1	5818	HP:0002296	Progressive hypotrichosis
OMIM:225060	NECTIN1	5818	HP:0000653	Sparse eyelashes
OMIM:225060	NECTIN1	5818	HP:0000972	Palmoplantar hyperkeratosis
OMIM:225060	NECTIN1	5818	HP:0000204	Cleft upper lip
OMIM:225060	NECTIN1	5818	HP:0000674	Anodontia
OMIM:225060	NECTIN1	5818	HP:0000598	Abnormality of the ear
OMIM:225060	NECTIN1	5818	HP:0000007	Autosomal recessive inheritance
OMIM:225060	NECTIN1	5818	HP:0000325	Triangular face
OMIM:225060	NECTIN1	5818	HP:0000175	Cleft palate
OMIM:225060	NECTIN1	5818	HP:0002164	Nail dysplasia
OMIM:225060	NECTIN1	5818	HP:0000535	Sparse and thin eyebrow
OMIM:225060	NECTIN1	5818	HP:0000668	Hypodontia
OMIM:225060	NECTIN1	5818	HP:0010554	Cutaneous finger syndactyly
OMIM:225060	NECTIN1	5818	HP:0010719	Abnormality of hair texture
OMIM:225060	NECTIN1	5818	HP:0000968	Ectodermal dysplasia
OMIM:225060	NECTIN1	5818	HP:0000288	Abnormality of the philtrum
OMIM:225060	NECTIN1	5818	HP:0000691	Microdontia
OMIM:617119	IFT74	80173	HP:0000135	Hypogonadism
OMIM:617119	IFT74	80173	HP:0010442	Polydactyly
OMIM:617119	IFT74	80173	HP:0000252	Microcephaly
OMIM:617119	IFT74	80173	HP:0000510	Rod-cone dystrophy
OMIM:617119	IFT74	80173	HP:0000007	Autosomal recessive inheritance
OMIM:617119	IFT74	80173	HP:0001513	Obesity
OMIM:617119	IFT74	80173	HP:0001249	Intellectual disability
ORPHA:1772	SRY	6736	HP:0000837	Increased circulating gonadotropin level
ORPHA:1772	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:1772	SRY	6736	HP:0000061	Ambiguous genitalia, female
ORPHA:1772	SRY	6736	HP:0008968	Muscle hypertrophy of the lower extremities
ORPHA:1772	SRY	6736	HP:0000027	Azoospermia
ORPHA:1772	SRY	6736	HP:0003251	Male infertility
ORPHA:1772	SRY	6736	HP:0012741	Unilateral cryptorchidism
ORPHA:1772	SRY	6736	HP:0004322	Short stature
ORPHA:1772	SRY	6736	HP:0008689	Bilateral cryptorchidism
ORPHA:1772	SRY	6736	HP:0000054	Micropenis
ORPHA:1772	SRY	6736	HP:0000033	Ambiguous genitalia, male
ORPHA:1772	SRY	6736	HP:0000808	Penoscrotal hypospadias
ORPHA:742	PEPD	5184	HP:0000992	Cutaneous photosensitivity
ORPHA:742	PEPD	5184	HP:0000316	Hypertelorism
ORPHA:742	PEPD	5184	HP:0007598	Bilateral single transverse palmar creases
ORPHA:742	PEPD	5184	HP:0000370	Abnormality of the middle ear
ORPHA:742	PEPD	5184	HP:0002857	Genu valgum
ORPHA:742	PEPD	5184	HP:0000989	Pruritus
ORPHA:742	PEPD	5184	HP:0010783	Erythema
ORPHA:742	PEPD	5184	HP:0002211	White forelock
ORPHA:742	PEPD	5184	HP:0003272	Abnormality of the hip bone
ORPHA:742	PEPD	5184	HP:0000670	Carious teeth
ORPHA:742	PEPD	5184	HP:0000982	Palmoplantar keratoderma
ORPHA:742	PEPD	5184	HP:0000958	Dry skin
ORPHA:742	PEPD	5184	HP:0000963	Thin skin
ORPHA:742	PEPD	5184	HP:0200042	Skin ulcer
ORPHA:742	PEPD	5184	HP:0000294	Low anterior hairline
ORPHA:742	PEPD	5184	HP:0000347	Micrognathia
ORPHA:742	PEPD	5184	HP:0007703	Abnormality of retinal pigmentation
ORPHA:742	PEPD	5184	HP:0200034	Papule
ORPHA:742	PEPD	5184	HP:0005280	Depressed nasal bridge
ORPHA:742	PEPD	5184	HP:0001999	Abnormal facial shape
ORPHA:742	PEPD	5184	HP:0001166	Arachnodactyly
ORPHA:742	PEPD	5184	HP:0002205	Recurrent respiratory infections
ORPHA:742	PEPD	5184	HP:0000365	Hearing impairment
ORPHA:742	PEPD	5184	HP:0000505	Visual impairment
ORPHA:742	PEPD	5184	HP:0002230	Generalized hirsutism
ORPHA:742	PEPD	5184	HP:0001231	Abnormality of the fingernails
ORPHA:742	PEPD	5184	HP:0007473	Crusting erythematous dermatitis
ORPHA:742	PEPD	5184	HP:0000457	Depressed nasal ridge
OMIM:613676	CENPJ	55835	HP:0000252	Microcephaly
OMIM:613676	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:613676	CENPJ	55835	HP:0000369	Low-set ears
OMIM:613676	CENPJ	55835	HP:0004325	Decreased body weight
OMIM:613676	CENPJ	55835	HP:0000348	High forehead
OMIM:613676	CENPJ	55835	HP:0000878	11 pairs of ribs
OMIM:613676	CENPJ	55835	HP:0000278	Retrognathia
OMIM:613676	CENPJ	55835	HP:0004322	Short stature
OMIM:613676	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:613676	CENPJ	55835	HP:0000430	Underdeveloped nasal alae
OMIM:613676	CENPJ	55835	HP:0010455	Steep acetabular roof
OMIM:614935	LRRC6	23639	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:614935	LRRC6	23639	HP:0012265	Ciliary dyskinesia
OMIM:614935	LRRC6	23639	HP:0012384	Rhinitis
OMIM:614935	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:614935	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:614935	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:614935	LRRC6	23639	HP:0004469	Chronic bronchitis
OMIM:614935	LRRC6	23639	HP:0012259	Absent inner and outer dynein arms
OMIM:614935	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:614935	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:614935	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:614935	LRRC6	23639	HP:0012207	Reduced sperm motility
OMIM:614935	LRRC6	23639	HP:0100582	Nasal polyposis
ORPHA:99000	IMPG1	3617	HP:0001123	Visual field defect
ORPHA:99000	IMPG1	3617	HP:0007677	Vitelliform-like macular lesions
ORPHA:99000	IMPG1	3617	HP:0001139	Choroideremia
ORPHA:99000	IMPG1	3617	HP:0007730	Iris hypopigmentation
ORPHA:99000	IMPG1	3617	HP:0000505	Visual impairment
ORPHA:99000	IMPG1	3617	HP:0000551	Abnormality of color vision
ORPHA:99000	PRPH2	5961	HP:0001123	Visual field defect
ORPHA:99000	PRPH2	5961	HP:0007677	Vitelliform-like macular lesions
ORPHA:99000	PRPH2	5961	HP:0001139	Choroideremia
ORPHA:99000	PRPH2	5961	HP:0007730	Iris hypopigmentation
ORPHA:99000	PRPH2	5961	HP:0000505	Visual impairment
ORPHA:99000	PRPH2	5961	HP:0000551	Abnormality of color vision
ORPHA:99000	IMPG2	50939	HP:0001123	Visual field defect
ORPHA:99000	IMPG2	50939	HP:0007677	Vitelliform-like macular lesions
ORPHA:99000	IMPG2	50939	HP:0001139	Choroideremia
ORPHA:99000	IMPG2	50939	HP:0007730	Iris hypopigmentation
ORPHA:99000	IMPG2	50939	HP:0000505	Visual impairment
ORPHA:99000	IMPG2	50939	HP:0000551	Abnormality of color vision
ORPHA:99000	BEST1	7439	HP:0001123	Visual field defect
ORPHA:99000	BEST1	7439	HP:0007677	Vitelliform-like macular lesions
ORPHA:99000	BEST1	7439	HP:0001139	Choroideremia
ORPHA:99000	BEST1	7439	HP:0007730	Iris hypopigmentation
ORPHA:99000	BEST1	7439	HP:0000505	Visual impairment
ORPHA:99000	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:164200	GJA1	2697	HP:0001592	Selective tooth agenesis
OMIM:164200	GJA1	2697	HP:0009183	Joint contracture of the 5th finger
OMIM:164200	GJA1	2697	HP:0000568	Microphthalmia
OMIM:164200	GJA1	2697	HP:0008442	Vertebral hyperostosis
OMIM:164200	GJA1	2697	HP:0002213	Fine hair
OMIM:164200	GJA1	2697	HP:0001257	Spasticity
OMIM:164200	GJA1	2697	HP:0002273	Tetraparesis
OMIM:164200	GJA1	2697	HP:0000405	Conductive hearing impairment
OMIM:164200	GJA1	2697	HP:0001251	Ataxia
OMIM:164200	GJA1	2697	HP:0000670	Carious teeth
OMIM:164200	GJA1	2697	HP:0004495	Thin anteverted nares
OMIM:164200	GJA1	2697	HP:0001260	Dysarthria
OMIM:164200	GJA1	2697	HP:0001808	Fragile nails
OMIM:164200	GJA1	2697	HP:0000482	Microcornea
OMIM:164200	GJA1	2697	HP:0000691	Microdontia
OMIM:164200	GJA1	2697	HP:0002217	Slow-growing hair
OMIM:164200	GJA1	2697	HP:0009779	3-4 toe syndactyly
OMIM:164200	GJA1	2697	HP:0006480	Premature loss of teeth
OMIM:164200	GJA1	2697	HP:0006801	Hyperactive deep tendon reflexes
OMIM:164200	GJA1	2697	HP:0000011	Neurogenic bladder
OMIM:164200	GJA1	2697	HP:0004220	Short middle phalanx of the 5th finger
OMIM:164200	GJA1	2697	HP:0000518	Cataract
OMIM:164200	GJA1	2697	HP:0012745	Short palpebral fissure
OMIM:164200	GJA1	2697	HP:0000430	Underdeveloped nasal alae
OMIM:164200	GJA1	2697	HP:0002385	Paraparesis
OMIM:164200	GJA1	2697	HP:0002500	Abnormality of the cerebral white matter
OMIM:164200	GJA1	2697	HP:0000187	Broad alveolar ridges
OMIM:164200	GJA1	2697	HP:0003812	Phenotypic variability
OMIM:164200	GJA1	2697	HP:0030084	Clinodactyly
OMIM:164200	GJA1	2697	HP:0000252	Microcephaly
OMIM:164200	GJA1	2697	HP:0000446	Narrow nasal bridge
OMIM:164200	GJA1	2697	HP:0010705	4-5 finger syndactyly
OMIM:164200	GJA1	2697	HP:0002967	Cubitus valgus
OMIM:164200	GJA1	2697	HP:0011359	Dry hair
OMIM:164200	GJA1	2697	HP:0000581	Blepharophimosis
OMIM:164200	GJA1	2697	HP:0006297	Hypoplasia of dental enamel
OMIM:164200	GJA1	2697	HP:0001249	Intellectual disability
OMIM:164200	GJA1	2697	HP:0000286	Epicanthus
OMIM:164200	GJA1	2697	HP:0002827	Hip dislocation
OMIM:164200	GJA1	2697	HP:0000175	Cleft palate
OMIM:164200	GJA1	2697	HP:0008070	Sparse hair
OMIM:164200	GJA1	2697	HP:0000204	Cleft upper lip
OMIM:164200	GJA1	2697	HP:0001250	Seizures
OMIM:164200	GJA1	2697	HP:0002135	Basal ganglia calcification
OMIM:164200	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:164200	GJA1	2697	HP:0000501	Glaucoma
OMIM:613390	RAD51C	5889	HP:0000107	Renal cyst
OMIM:613390	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:613390	RAD51C	5889	HP:0009778	Short thumb
OMIM:613390	RAD51C	5889	HP:0009777	Absent thumb
OMIM:613390	RAD51C	5889	HP:0002023	Anal atresia
OMIM:613390	RAD51C	5889	HP:0004322	Short stature
OMIM:613390	RAD51C	5889	HP:0000126	Hydronephrosis
OMIM:613390	RAD51C	5889	HP:0025023	Rectal atresia
OMIM:613390	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:613390	RAD51C	5889	HP:0002984	Hypoplasia of the radius
OMIM:613390	RAD51C	5889	HP:0001627	Abnormal heart morphology
OMIM:613390	RAD51C	5889	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	RAD51C	5889	HP:0003241	External genital hypoplasia
OMIM:278800	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:278800	ERCC6	2074	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278800	ERCC6	2074	HP:0000252	Microcephaly
OMIM:278800	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:278800	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:278800	ERCC6	2074	HP:0001266	Choreoathetosis
OMIM:278800	ERCC6	2074	HP:0008639	Gonadal hypoplasia
OMIM:278800	ERCC6	2074	HP:0001009	Telangiectasia
OMIM:278800	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:278800	ERCC6	2074	HP:0004334	Dermal atrophy
OMIM:278800	ERCC6	2074	HP:0000656	Ectropion
OMIM:278800	ERCC6	2074	HP:0001029	Poikiloderma
OMIM:278800	ERCC6	2074	HP:0000509	Conjunctivitis
OMIM:278800	ERCC6	2074	HP:0000613	Photophobia
OMIM:278800	ERCC6	2074	HP:0001257	Spasticity
OMIM:278800	ERCC6	2074	HP:0000491	Keratitis
OMIM:278800	ERCC6	2074	HP:0000621	Entropion
OMIM:278800	ERCC6	2074	HP:0001284	Areflexia
OMIM:278800	ERCC6	2074	HP:0002542	Olivopontocerebellar atrophy
OMIM:278800	ERCC6	2074	HP:0001268	Mental deterioration
OMIM:278800	ERCC6	2074	HP:0001265	Hyporeflexia
OMIM:278800	ERCC6	2074	HP:0003510	Severe short stature
OMIM:278800	ERCC6	2074	HP:0001251	Ataxia
OMIM:278800	ERCC6	2074	HP:0001272	Cerebellar atrophy
ORPHA:79254	PAH	5053	HP:0004923	Hyperphenylalaninemia
ORPHA:79254	PAH	5053	HP:0000964	Eczema
ORPHA:79254	PAH	5053	HP:0000252	Microcephaly
ORPHA:79254	PAH	5053	HP:0002354	Memory impairment
ORPHA:79254	PAH	5053	HP:0000717	Autism
ORPHA:79254	PAH	5053	HP:0005599	Hypopigmentation of hair
ORPHA:79254	PAH	5053	HP:0001337	Tremor
ORPHA:79254	PAH	5053	HP:0001263	Global developmental delay
ORPHA:79254	PAH	5053	HP:0000716	Depressivity
ORPHA:79254	PAH	5053	HP:0001250	Seizures
ORPHA:79254	PAH	5053	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:79254	PAH	5053	HP:0001510	Growth delay
ORPHA:79254	PAH	5053	HP:0001010	Hypopigmentation of the skin
ORPHA:79254	PAH	5053	HP:0002017	Nausea and vomiting
ORPHA:79254	PAH	5053	HP:0001276	Hypertonia
ORPHA:79254	PAH	5053	HP:0010864	Intellectual disability, severe
OMIM:612794	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:612794	ACTC1	70	HP:0001631	Atrial septal defect
OMIM:300322	HPRT1	3251	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:300322	HPRT1	3251	HP:0001854	Podagra
OMIM:300322	HPRT1	3251	HP:0000029	Testicular atrophy
OMIM:300322	HPRT1	3251	HP:0001332	Dystonia
OMIM:300322	HPRT1	3251	HP:0002013	Vomiting
OMIM:300322	HPRT1	3251	HP:0001257	Spasticity
OMIM:300322	HPRT1	3251	HP:0004322	Short stature
OMIM:300322	HPRT1	3251	HP:0003149	Hyperuricosuria
OMIM:300322	HPRT1	3251	HP:0001249	Intellectual disability
OMIM:300322	HPRT1	3251	HP:0001260	Dysarthria
OMIM:300322	HPRT1	3251	HP:0001889	Megaloblastic anemia
OMIM:300322	HPRT1	3251	HP:0001290	Generalized hypotonia
OMIM:300322	HPRT1	3251	HP:0001419	X-linked recessive inheritance
OMIM:300322	HPRT1	3251	HP:0000787	Nephrolithiasis
OMIM:300322	HPRT1	3251	HP:0001270	Motor delay
OMIM:300322	HPRT1	3251	HP:0001347	Hyperreflexia
OMIM:300322	HPRT1	3251	HP:0002179	Opisthotonus
OMIM:300322	HPRT1	3251	HP:0001266	Choreoathetosis
OMIM:300322	HPRT1	3251	HP:0002015	Dysphagia
OMIM:135290	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:135290	APC	324	HP:0100245	Desmoid tumors
OMIM:135290	APC	324	HP:0200040	Epidermoid cyst
OMIM:614292	P3H2	55214	HP:0011003	Severe Myopia
OMIM:614292	P3H2	55214	HP:0200071	Peripheral vitreoretinal degeneration
OMIM:614292	P3H2	55214	HP:0000007	Autosomal recessive inheritance
OMIM:614292	P3H2	55214	HP:0000518	Cataract
OMIM:258501	OPA3	80207	HP:0000648	Optic atrophy
OMIM:258501	OPA3	80207	HP:0002072	Chorea
OMIM:258501	OPA3	80207	HP:0003487	Babinski sign
OMIM:258501	OPA3	80207	HP:0003535	3-Methylglutaconic aciduria
OMIM:258501	OPA3	80207	HP:0000505	Visual impairment
OMIM:258501	OPA3	80207	HP:0001257	Spasticity
OMIM:258501	OPA3	80207	HP:0001251	Ataxia
OMIM:258501	OPA3	80207	HP:0000007	Autosomal recessive inheritance
OMIM:258501	OPA3	80207	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:258501	OPA3	80207	HP:0001260	Dysarthria
OMIM:258501	OPA3	80207	HP:0007663	Reduced visual acuity
OMIM:258501	OPA3	80207	HP:0100543	Cognitive impairment
OMIM:258501	OPA3	80207	HP:0001347	Hyperreflexia
ORPHA:1553	SMO	6608	HP:0006101	Finger syndactyly
ORPHA:1553	SMO	6608	HP:0001363	Craniosynostosis
ORPHA:1553	SMO	6608	HP:0001829	Foot polydactyly
ORPHA:1553	SMO	6608	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1553	SMO	6608	HP:0002119	Ventriculomegaly
ORPHA:1553	SMO	6608	HP:0000568	Microphthalmia
ORPHA:1553	SMO	6608	HP:0001274	Agenesis of corpus callosum
ORPHA:1553	SMO	6608	HP:0001249	Intellectual disability
ORPHA:1553	SMO	6608	HP:0000324	Facial asymmetry
ORPHA:1553	SMO	6608	HP:0011304	Broad thumb
ORPHA:1553	SMO	6608	HP:0001770	Toe syndactyly
ORPHA:1553	SMO	6608	HP:0000316	Hypertelorism
ORPHA:1553	SMO	6608	HP:0001053	Hypopigmented skin patches
ORPHA:1553	SMO	6608	HP:0002230	Generalized hirsutism
OMIM:616719	SCYL1	57410	HP:0007141	Sensorimotor neuropathy
OMIM:616719	SCYL1	57410	HP:0002359	Frequent falls
OMIM:616719	SCYL1	57410	HP:0000007	Autosomal recessive inheritance
OMIM:616719	SCYL1	57410	HP:0001744	Splenomegaly
OMIM:616719	SCYL1	57410	HP:0001270	Motor delay
OMIM:616719	SCYL1	57410	HP:0001265	Hyporeflexia
OMIM:616719	SCYL1	57410	HP:0002066	Gait ataxia
OMIM:616719	SCYL1	57410	HP:0001399	Hepatic failure
OMIM:616719	SCYL1	57410	HP:0001395	Hepatic fibrosis
OMIM:616719	SCYL1	57410	HP:0001272	Cerebellar atrophy
OMIM:616719	SCYL1	57410	HP:0002936	Distal sensory impairment
OMIM:616719	SCYL1	57410	HP:0001337	Tremor
OMIM:616719	SCYL1	57410	HP:0002240	Hepatomegaly
OMIM:616433	DOCK2	1794	HP:0002721	Immunodeficiency
OMIM:616433	DOCK2	1794	HP:0000007	Autosomal recessive inheritance
OMIM:616433	DOCK2	1794	HP:0003577	Congenital onset
OMIM:614969	TOE1	114034	HP:0000054	Micropenis
OMIM:614969	TOE1	114034	HP:0000431	Wide nasal bridge
OMIM:614969	TOE1	114034	HP:0000639	Nystagmus
OMIM:614969	TOE1	114034	HP:0000657	Oculomotor apraxia
OMIM:614969	TOE1	114034	HP:0000007	Autosomal recessive inheritance
OMIM:614969	TOE1	114034	HP:0003577	Congenital onset
OMIM:614969	TOE1	114034	HP:0000400	Macrotia
OMIM:614969	TOE1	114034	HP:0001336	Myoclonus
OMIM:614969	TOE1	114034	HP:0000253	Progressive microcephaly
OMIM:614969	TOE1	114034	HP:0001290	Generalized hypotonia
OMIM:614969	TOE1	114034	HP:0002059	Cerebral atrophy
OMIM:614969	TOE1	114034	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614969	TOE1	114034	HP:0001258	Spastic paraplegia
OMIM:614969	TOE1	114034	HP:0000286	Epicanthus
OMIM:614969	TOE1	114034	HP:0001347	Hyperreflexia
OMIM:614969	TOE1	114034	HP:0001321	Cerebellar hypoplasia
OMIM:614969	TOE1	114034	HP:0001250	Seizures
OMIM:614969	TOE1	114034	HP:0005280	Depressed nasal bridge
OMIM:614969	TOE1	114034	HP:0001263	Global developmental delay
OMIM:614969	TOE1	114034	HP:0002104	Apnea
OMIM:614969	TOE1	114034	HP:0003745	Sporadic
OMIM:614969	TOE1	114034	HP:0000215	Thick upper lip vermilion
OMIM:614969	TOE1	114034	HP:0000648	Optic atrophy
OMIM:614969	TOE1	114034	HP:0012110	Hypoplasia of the pons
OMIM:614969	TOE1	114034	HP:0000062	Ambiguous genitalia
OMIM:614969	TOE1	114034	HP:0000347	Micrognathia
OMIM:616668	SPG11	80208	HP:0002936	Distal sensory impairment
OMIM:616668	SPG11	80208	HP:0003677	Slow progression
OMIM:616668	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:616668	SPG11	80208	HP:0100543	Cognitive impairment
OMIM:616668	SPG11	80208	HP:0003812	Phenotypic variability
OMIM:616668	SPG11	80208	HP:0003477	Peripheral axonal neuropathy
OMIM:616668	SPG11	80208	HP:0009027	Foot dorsiflexor weakness
ORPHA:123	BCS1L	617	HP:0002299	Brittle hair
ORPHA:123	BCS1L	617	HP:0000407	Sensorineural hearing impairment
ORPHA:123	BCS1L	617	HP:0001596	Alopecia
OMIM:604498	MPL	4352	HP:0001873	Thrombocytopenia
OMIM:604498	MPL	4352	HP:0001876	Pancytopenia
OMIM:604498	MPL	4352	HP:0001320	Cerebellar vermis hypoplasia
OMIM:604498	MPL	4352	HP:0005548	Megakaryocytopenia
OMIM:604498	MPL	4352	HP:0000007	Autosomal recessive inheritance
OMIM:604498	MPL	4352	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:309548	AFF2	2334	HP:0000718	Aggressive behavior
OMIM:309548	AFF2	2334	HP:0000752	Hyperactivity
OMIM:309548	AFF2	2334	HP:0001419	X-linked recessive inheritance
OMIM:309548	AFF2	2334	HP:0001249	Intellectual disability
OMIM:309548	AFF2	2334	HP:0000286	Epicanthus
OMIM:309548	AFF2	2334	HP:0000713	Agitation
OMIM:309548	AFF2	2334	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309548	AFF2	2334	HP:0000750	Delayed speech and language development
OMIM:309548	AFF2	2334	HP:0000722	Obsessive-compulsive behavior
OMIM:309548	AFF2	2334	HP:0000426	Prominent nasal bridge
OMIM:309548	AFF2	2334	HP:0100710	Impulsivity
ORPHA:261197	SH2B1	25970	HP:0002463	Language impairment
ORPHA:261197	SH2B1	25970	HP:0001250	Seizures
ORPHA:261197	SH2B1	25970	HP:0000717	Autism
ORPHA:261197	SH2B1	25970	HP:0002353	EEG abnormality
ORPHA:261197	SH2B1	25970	HP:0001249	Intellectual disability
ORPHA:261197	SH2B1	25970	HP:0001263	Global developmental delay
ORPHA:261197	SH2B1	25970	HP:0000337	Broad forehead
ORPHA:261197	SH2B1	25970	HP:0000272	Malar flattening
ORPHA:261197	SH2B1	25970	HP:0000256	Macrocephaly
OMIM:613225	F13A1	2162	HP:0000978	Bruising susceptibility
OMIM:613225	F13A1	2162	HP:0002170	Intracranial hemorrhage
OMIM:613225	F13A1	2162	HP:0007420	Spontaneous hematomas
OMIM:613225	F13A1	2162	HP:0003577	Congenital onset
OMIM:613225	F13A1	2162	HP:0005261	Joint hemorrhage
OMIM:613225	F13A1	2162	HP:0000007	Autosomal recessive inheritance
OMIM:613225	F13A1	2162	HP:0000421	Epistaxis
OMIM:613225	F13A1	2162	HP:0008357	Reduced factor XIII activity
OMIM:105200	FGA	2243	HP:0000006	Autosomal dominant inheritance
OMIM:105200	FGA	2243	HP:0003216	Generalized amyloid deposition
OMIM:105200	FGA	2243	HP:0000969	Edema
OMIM:105200	FGA	2243	HP:0000822	Hypertension
OMIM:105200	FGA	2243	HP:0002240	Hepatomegaly
OMIM:105200	FGA	2243	HP:0000100	Nephrotic syndrome
OMIM:105200	FGA	2243	HP:0000112	Nephropathy
OMIM:105200	FGA	2243	HP:0001744	Splenomegaly
OMIM:105200	FGA	2243	HP:0000093	Proteinuria
OMIM:105200	FGA	2243	HP:0001396	Cholestasis
OMIM:105200	FGA	2243	HP:0000790	Hematuria
OMIM:105200	FGA	2243	HP:0000988	Skin rash
OMIM:105200	LYZ	4069	HP:0000006	Autosomal dominant inheritance
OMIM:105200	LYZ	4069	HP:0003216	Generalized amyloid deposition
OMIM:105200	LYZ	4069	HP:0000969	Edema
OMIM:105200	LYZ	4069	HP:0000822	Hypertension
OMIM:105200	LYZ	4069	HP:0002240	Hepatomegaly
OMIM:105200	LYZ	4069	HP:0000100	Nephrotic syndrome
OMIM:105200	LYZ	4069	HP:0000112	Nephropathy
OMIM:105200	LYZ	4069	HP:0001744	Splenomegaly
OMIM:105200	LYZ	4069	HP:0000093	Proteinuria
OMIM:105200	LYZ	4069	HP:0001396	Cholestasis
OMIM:105200	LYZ	4069	HP:0000790	Hematuria
OMIM:105200	LYZ	4069	HP:0000988	Skin rash
OMIM:105200	B2M	567	HP:0000006	Autosomal dominant inheritance
OMIM:105200	B2M	567	HP:0003216	Generalized amyloid deposition
OMIM:105200	B2M	567	HP:0000969	Edema
OMIM:105200	B2M	567	HP:0000822	Hypertension
OMIM:105200	B2M	567	HP:0002240	Hepatomegaly
OMIM:105200	B2M	567	HP:0000100	Nephrotic syndrome
OMIM:105200	B2M	567	HP:0000112	Nephropathy
OMIM:105200	B2M	567	HP:0001744	Splenomegaly
OMIM:105200	B2M	567	HP:0000093	Proteinuria
OMIM:105200	B2M	567	HP:0001396	Cholestasis
OMIM:105200	B2M	567	HP:0000790	Hematuria
OMIM:105200	B2M	567	HP:0000988	Skin rash
OMIM:105200	APOA1	335	HP:0000006	Autosomal dominant inheritance
OMIM:105200	APOA1	335	HP:0003216	Generalized amyloid deposition
OMIM:105200	APOA1	335	HP:0000969	Edema
OMIM:105200	APOA1	335	HP:0000822	Hypertension
OMIM:105200	APOA1	335	HP:0002240	Hepatomegaly
OMIM:105200	APOA1	335	HP:0000100	Nephrotic syndrome
OMIM:105200	APOA1	335	HP:0000112	Nephropathy
OMIM:105200	APOA1	335	HP:0001744	Splenomegaly
OMIM:105200	APOA1	335	HP:0000093	Proteinuria
OMIM:105200	APOA1	335	HP:0001396	Cholestasis
OMIM:105200	APOA1	335	HP:0000790	Hematuria
OMIM:105200	APOA1	335	HP:0000988	Skin rash
OMIM:274700	TG	7038	HP:0002890	Thyroid carcinoma
OMIM:274700	TG	7038	HP:0008223	Compensated hypothyroidism
OMIM:274700	TG	7038	HP:0000853	Goiter
OMIM:274700	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274700	TG	7038	HP:0012559	Increased T3/T4 ratio
OMIM:274700	TG	7038	HP:0001249	Intellectual disability
OMIM:603909	CASP10	843	HP:0003453	Antineutrophil antibody positivity
OMIM:603909	CASP10	843	HP:0002633	Vasculitis
OMIM:603909	CASP10	843	HP:0005404	Increase in B cell number
OMIM:603909	CASP10	843	HP:0000100	Nephrotic syndrome
OMIM:603909	CASP10	843	HP:0000123	Nephritis
OMIM:603909	CASP10	843	HP:0002240	Hepatomegaly
OMIM:603909	CASP10	843	HP:0002730	Chronic noninfectious lymphadenopathy
OMIM:603909	CASP10	843	HP:0002853	Increased proportion of HLA DR+ and CD57+ T cells
OMIM:603909	CASP10	843	HP:0003262	Smooth muscle antibody positivity
OMIM:603909	CASP10	843	HP:0004844	Coombs-positive hemolytic anemia
OMIM:603909	CASP10	843	HP:0003237	Increased IgG level
OMIM:603909	CASP10	843	HP:0003454	Platelet antibody positive
OMIM:603909	CASP10	843	HP:0025300	Malar rash
OMIM:603909	CASP10	843	HP:0001890	Autoimmune hemolytic anemia
OMIM:603909	CASP10	843	HP:0001973	Autoimmune thrombocytopenia
OMIM:603909	CASP10	843	HP:0001904	Autoimmune neutropenia
OMIM:603909	CASP10	843	HP:0003613	Antiphospholipid antibody positivity
OMIM:603909	CASP10	843	HP:0003621	Juvenile onset
OMIM:603909	CASP10	843	HP:0002923	Rheumatoid factor positive
OMIM:603909	CASP10	843	HP:0001744	Splenomegaly
OMIM:603909	CASP10	843	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
OMIM:603909	CASP10	843	HP:0003261	Increased IgA level
OMIM:603909	CASP10	843	HP:0001025	Urticaria
OMIM:603909	CASP10	843	HP:0002729	Follicular hyperplasia
OMIM:603909	CASP10	843	HP:0000006	Autosomal dominant inheritance
OMIM:603909	CASP10	843	HP:0001880	Eosinophilia
OMIM:603909	CASP10	843	HP:0002972	Reduced delayed hypersensitivity
OMIM:603909	CASP10	843	HP:0001891	Iron deficiency anemia
OMIM:603909	CASP10	843	HP:0002731	Decreased lymphocyte apoptosis
OMIM:603909	CASP10	843	HP:0003496	Increased IgM level
OMIM:603909	CASP10	843	HP:0003493	Antinuclear antibody positivity
ORPHA:388	SEMA3C	10512	HP:0002251	Aganglionic megacolon
ORPHA:388	SEMA3C	10512	HP:0002017	Nausea and vomiting
ORPHA:388	SEMA3C	10512	HP:0002019	Constipation
ORPHA:388	SEMA3C	10512	HP:0001824	Weight loss
ORPHA:388	SEMA3C	10512	HP:0005214	Intestinal obstruction
ORPHA:388	SEMA3C	10512	HP:0002027	Abdominal pain
ORPHA:388	ECE1	1889	HP:0002251	Aganglionic megacolon
ORPHA:388	ECE1	1889	HP:0002017	Nausea and vomiting
ORPHA:388	ECE1	1889	HP:0002019	Constipation
ORPHA:388	ECE1	1889	HP:0001824	Weight loss
ORPHA:388	ECE1	1889	HP:0005214	Intestinal obstruction
ORPHA:388	ECE1	1889	HP:0002027	Abdominal pain
ORPHA:388	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHA:388	EDN3	1908	HP:0002017	Nausea and vomiting
ORPHA:388	EDN3	1908	HP:0002019	Constipation
ORPHA:388	EDN3	1908	HP:0001824	Weight loss
ORPHA:388	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHA:388	EDN3	1908	HP:0002027	Abdominal pain
ORPHA:388	EDNRB	1910	HP:0002251	Aganglionic megacolon
ORPHA:388	EDNRB	1910	HP:0002017	Nausea and vomiting
ORPHA:388	EDNRB	1910	HP:0002019	Constipation
ORPHA:388	EDNRB	1910	HP:0001824	Weight loss
ORPHA:388	EDNRB	1910	HP:0005214	Intestinal obstruction
ORPHA:388	EDNRB	1910	HP:0002027	Abdominal pain
ORPHA:388	NRTN	4902	HP:0002251	Aganglionic megacolon
ORPHA:388	NRTN	4902	HP:0002017	Nausea and vomiting
ORPHA:388	NRTN	4902	HP:0002019	Constipation
ORPHA:388	NRTN	4902	HP:0001824	Weight loss
ORPHA:388	NRTN	4902	HP:0005214	Intestinal obstruction
ORPHA:388	NRTN	4902	HP:0002027	Abdominal pain
ORPHA:388	RET	5979	HP:0002251	Aganglionic megacolon
ORPHA:388	RET	5979	HP:0002017	Nausea and vomiting
ORPHA:388	RET	5979	HP:0002019	Constipation
ORPHA:388	RET	5979	HP:0001824	Weight loss
ORPHA:388	RET	5979	HP:0005214	Intestinal obstruction
ORPHA:388	RET	5979	HP:0002027	Abdominal pain
ORPHA:388	GDNF	2668	HP:0002251	Aganglionic megacolon
ORPHA:388	GDNF	2668	HP:0002017	Nausea and vomiting
ORPHA:388	GDNF	2668	HP:0002019	Constipation
ORPHA:388	GDNF	2668	HP:0001824	Weight loss
ORPHA:388	GDNF	2668	HP:0005214	Intestinal obstruction
ORPHA:388	GDNF	2668	HP:0002027	Abdominal pain
ORPHA:388	SEMA3D	223117	HP:0002251	Aganglionic megacolon
ORPHA:388	SEMA3D	223117	HP:0002017	Nausea and vomiting
ORPHA:388	SEMA3D	223117	HP:0002019	Constipation
ORPHA:388	SEMA3D	223117	HP:0001824	Weight loss
ORPHA:388	SEMA3D	223117	HP:0005214	Intestinal obstruction
ORPHA:388	SEMA3D	223117	HP:0002027	Abdominal pain
OMIM:194380	PIEZO1	9780	HP:0000006	Autosomal dominant inheritance
OMIM:194380	PIEZO1	9780	HP:0005535	Exercise-induced hemolysis
OMIM:194380	PIEZO1	9780	HP:0001923	Reticulocytosis
OMIM:194380	PIEZO1	9780	HP:0008269	Increased red cell hemolysis by shear stress
ORPHA:1802	TBXAS1	6916	HP:0001903	Anemia
ORPHA:1802	TBXAS1	6916	HP:0004493	Craniofacial hyperostosis
ORPHA:1802	TBXAS1	6916	HP:0002823	Abnormality of femur morphology
ORPHA:1802	TBXAS1	6916	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:1802	TBXAS1	6916	HP:0010978	Abnormality of immune system physiology
ORPHA:1802	TBXAS1	6916	HP:0002992	Abnormality of tibia morphology
ORPHA:1802	TBXAS1	6916	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:1802	TBXAS1	6916	HP:0000944	Abnormality of the metaphysis
ORPHA:1802	TBXAS1	6916	HP:0003103	Abnormal cortical bone morphology
ORPHA:1802	TBXAS1	6916	HP:0005019	Diaphyseal thickening
ORPHA:1802	TBXAS1	6916	HP:0006487	Bowing of the long bones
ORPHA:272	FKTN	2218	HP:0001612	Weak cry
ORPHA:272	FKTN	2218	HP:0000298	Mask-like facies
ORPHA:272	FKTN	2218	HP:0002353	EEG abnormality
ORPHA:272	FKTN	2218	HP:0030046	Hypoglycosylation of alpha-dystroglycan
ORPHA:272	FKTN	2218	HP:0000767	Pectus excavatum
ORPHA:272	FKTN	2218	HP:0001252	Muscular hypotonia
ORPHA:272	FKTN	2218	HP:0001288	Gait disturbance
ORPHA:272	FKTN	2218	HP:0000750	Delayed speech and language development
ORPHA:272	FKTN	2218	HP:0003560	Muscular dystrophy
ORPHA:272	FKTN	2218	HP:0007260	Type II lissencephaly
ORPHA:272	FKTN	2218	HP:0001250	Seizures
ORPHA:272	FKTN	2218	HP:0003198	Myopathy
ORPHA:272	FKTN	2218	HP:0001357	Plagiocephaly
ORPHA:272	FKTN	2218	HP:0000545	Myopia
ORPHA:272	FKTN	2218	HP:0002119	Ventriculomegaly
ORPHA:272	FKTN	2218	HP:0100490	Camptodactyly of finger
ORPHA:272	FKTN	2218	HP:0003457	EMG abnormality
ORPHA:272	FKTN	2218	HP:0010864	Intellectual disability, severe
ORPHA:272	FKTN	2218	HP:0001263	Global developmental delay
ORPHA:272	FKTN	2218	HP:0000238	Hydrocephalus
ORPHA:272	FKTN	2218	HP:0000248	Brachycephaly
OMIM:616323	CHRND	1144	HP:0010628	Facial palsy
OMIM:616323	CHRND	1144	HP:0002015	Dysphagia
OMIM:616323	CHRND	1144	HP:0003577	Congenital onset
OMIM:616323	CHRND	1144	HP:0000218	High palate
OMIM:616323	CHRND	1144	HP:0000508	Ptosis
OMIM:616323	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:616323	CHRND	1144	HP:0001290	Generalized hypotonia
OMIM:616323	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616323	CHRND	1144	HP:0002093	Respiratory insufficiency
ORPHA:93315	COL2A1	1280	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:93315	COL2A1	1280	HP:0003502	Mild short stature
ORPHA:93315	COL2A1	1280	HP:0003300	Ovoid vertebral bodies
ORPHA:93315	COL2A1	1280	HP:0003019	Abnormality of the wrist
ORPHA:93315	COL2A1	1280	HP:0003307	Hyperlordosis
ORPHA:93315	COL2A1	1280	HP:0002812	Coxa vara
ORPHA:93315	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
ORPHA:93315	COL2A1	1280	HP:0002757	Recurrent fractures
ORPHA:93315	COL2A1	1280	HP:0002983	Micromelia
ORPHA:93315	COL2A1	1280	HP:0003025	Metaphyseal irregularity
ORPHA:98849	KIT	3815	HP:0001880	Eosinophilia
ORPHA:98849	KIT	3815	HP:0100495	Mastocytosis
ORPHA:98849	KIT	3815	HP:0005506	Chronic myelogenous leukemia
ORPHA:98849	KIT	3815	HP:0002863	Myelodysplasia
ORPHA:98849	KIT	3815	HP:0004808	Acute myeloid leukemia
ORPHA:98849	KIT	3815	HP:0012325	Chronic myelomonocytic leukemia
OMIM:166300	MAFB	9935	HP:0000112	Nephropathy
OMIM:166300	MAFB	9935	HP:0001785	Ankle swelling
OMIM:166300	MAFB	9935	HP:0000347	Micrognathia
OMIM:166300	MAFB	9935	HP:0000006	Autosomal dominant inheritance
OMIM:166300	MAFB	9935	HP:0002829	Arthralgia
OMIM:166300	MAFB	9935	HP:0009487	Ulnar deviation of the hand
OMIM:166300	MAFB	9935	HP:0000083	Renal insufficiency
OMIM:166300	MAFB	9935	HP:0000327	Hypoplasia of the maxilla
OMIM:166300	MAFB	9935	HP:0001504	Metacarpal osteolysis
OMIM:166300	MAFB	9935	HP:0000938	Osteopenia
OMIM:166300	MAFB	9935	HP:0006234	Osteolysis involving tarsal bones
OMIM:166300	MAFB	9935	HP:0000822	Hypertension
OMIM:166300	MAFB	9935	HP:0000093	Proteinuria
OMIM:166300	MAFB	9935	HP:0000520	Proptosis
OMIM:166300	MAFB	9935	HP:0001473	Metatarsal osteolysis
OMIM:166300	MAFB	9935	HP:0001225	Wrist swelling
OMIM:166300	MAFB	9935	HP:0001495	Carpal osteolysis
OMIM:166300	MAFB	9935	HP:0001761	Pes cavus
OMIM:255960	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:255960	PRKAR1A	5573	HP:0006689	Bacterial endocarditis
OMIM:255960	PRKAR1A	5573	HP:0000007	Autosomal recessive inheritance
OMIM:255960	PRKAR1A	5573	HP:0006691	Pulmonic valve myxoma
OMIM:269160	SIX3	6496	HP:0010636	Schizencephaly
OMIM:269160	COL4A1	1282	HP:0010636	Schizencephaly
OMIM:269160	EMX2	2018	HP:0010636	Schizencephaly
OMIM:269160	SHH	6469	HP:0010636	Schizencephaly
ORPHA:93359	B3GALT6	126792	HP:0000175	Cleft palate
ORPHA:93359	B3GALT6	126792	HP:0002827	Hip dislocation
ORPHA:93359	B3GALT6	126792	HP:0000520	Proptosis
ORPHA:93359	B3GALT6	126792	HP:0000944	Abnormality of the metaphysis
ORPHA:93359	B3GALT6	126792	HP:0002651	Spondyloepimetaphyseal dysplasia
ORPHA:93359	B3GALT6	126792	HP:0002650	Scoliosis
ORPHA:93359	B3GALT6	126792	HP:0005692	Joint hyperflexibility
ORPHA:93359	B3GALT6	126792	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93359	B3GALT6	126792	HP:0011849	Abnormal bone ossification
ORPHA:93359	B3GALT6	126792	HP:0000974	Hyperextensible skin
ORPHA:93359	B3GALT6	126792	HP:0000926	Platyspondyly
ORPHA:93359	B3GALT6	126792	HP:0003042	Elbow dislocation
ORPHA:93359	B3GALT6	126792	HP:0000218	High palate
ORPHA:93359	B3GALT6	126792	HP:0001773	Short foot
ORPHA:93359	B3GALT6	126792	HP:0001762	Talipes equinovarus
ORPHA:93359	B3GALT6	126792	HP:0004279	Short palm
ORPHA:93359	B3GALT6	126792	HP:0000343	Long philtrum
ORPHA:93359	B3GALT6	126792	HP:0003307	Hyperlordosis
ORPHA:93359	B3GALT6	126792	HP:0000592	Blue sclerae
ORPHA:93359	B3GALT6	126792	HP:0002808	Kyphosis
ORPHA:93359	B3GALT6	126792	HP:0004322	Short stature
ORPHA:93359	B3GALT6	126792	HP:0100866	Short iliac bones
ORPHA:93359	B3GALT6	126792	HP:0002983	Micromelia
OMIM:300914	COL4A6	1288	HP:0008554	Cochlear malformation
OMIM:300914	COL4A6	1288	HP:0001419	X-linked recessive inheritance
OMIM:300914	COL4A6	1288	HP:0000365	Hearing impairment
ORPHA:2869	STK11	6794	HP:0002672	Gastrointestinal carcinoma
ORPHA:2869	STK11	6794	HP:0002239	Gastrointestinal hemorrhage
ORPHA:2869	STK11	6794	HP:0100669	Abnormal pigmentation of the oral mucosa
ORPHA:2869	STK11	6794	HP:0001003	Multiple lentigines
OMIM:615431	LRPAP1	4043	HP:0000007	Autosomal recessive inheritance
OMIM:615431	LRPAP1	4043	HP:0007800	Increased axial globe length
OMIM:615431	LRPAP1	4043	HP:0007663	Reduced visual acuity
OMIM:615431	LRPAP1	4043	HP:0000505	Visual impairment
OMIM:615431	LRPAP1	4043	HP:0011003	Severe Myopia
OMIM:213600	PDGFB	5155	HP:0000716	Depressivity
OMIM:213600	PDGFB	5155	HP:0000298	Mask-like facies
OMIM:213600	PDGFB	5155	HP:0001260	Dysarthria
OMIM:213600	PDGFB	5155	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	PDGFB	5155	HP:0002504	Calcification of the small brain vessels
OMIM:213600	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:213600	PDGFB	5155	HP:0002305	Athetosis
OMIM:213600	PDGFB	5155	HP:0003581	Adult onset
OMIM:213600	PDGFB	5155	HP:0002406	Limb dysmetria
OMIM:213600	PDGFB	5155	HP:0002354	Memory impairment
OMIM:213600	PDGFB	5155	HP:0002072	Chorea
OMIM:213600	PDGFB	5155	HP:0002172	Postural instability
OMIM:213600	PDGFB	5155	HP:0003676	Progressive
OMIM:213600	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:213600	PDGFB	5155	HP:0001268	Mental deterioration
OMIM:213600	PDGFB	5155	HP:0000020	Urinary incontinence
OMIM:213600	PDGFB	5155	HP:0002135	Basal ganglia calcification
OMIM:213600	PDGFB	5155	HP:0001347	Hyperreflexia
OMIM:213600	PDGFB	5155	HP:0002067	Bradykinesia
OMIM:213600	PDGFB	5155	HP:0001288	Gait disturbance
OMIM:213600	PDGFB	5155	HP:0000709	Psychosis
OMIM:213600	PDGFB	5155	HP:0001337	Tremor
OMIM:213600	PDGFB	5155	HP:0002075	Dysdiadochokinesis
OMIM:213600	PDGFB	5155	HP:0002063	Rigidity
OMIM:213600	PDGFB	5155	HP:0001332	Dystonia
OMIM:213600	PDGFRB	5159	HP:0000716	Depressivity
OMIM:213600	PDGFRB	5159	HP:0000298	Mask-like facies
OMIM:213600	PDGFRB	5159	HP:0001260	Dysarthria
OMIM:213600	PDGFRB	5159	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	PDGFRB	5159	HP:0002504	Calcification of the small brain vessels
OMIM:213600	PDGFRB	5159	HP:0001300	Parkinsonism
OMIM:213600	PDGFRB	5159	HP:0002305	Athetosis
OMIM:213600	PDGFRB	5159	HP:0003581	Adult onset
OMIM:213600	PDGFRB	5159	HP:0002406	Limb dysmetria
OMIM:213600	PDGFRB	5159	HP:0002354	Memory impairment
OMIM:213600	PDGFRB	5159	HP:0002072	Chorea
OMIM:213600	PDGFRB	5159	HP:0002172	Postural instability
OMIM:213600	PDGFRB	5159	HP:0003676	Progressive
OMIM:213600	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:213600	PDGFRB	5159	HP:0001268	Mental deterioration
OMIM:213600	PDGFRB	5159	HP:0000020	Urinary incontinence
OMIM:213600	PDGFRB	5159	HP:0002135	Basal ganglia calcification
OMIM:213600	PDGFRB	5159	HP:0001347	Hyperreflexia
OMIM:213600	PDGFRB	5159	HP:0002067	Bradykinesia
OMIM:213600	PDGFRB	5159	HP:0001288	Gait disturbance
OMIM:213600	PDGFRB	5159	HP:0000709	Psychosis
OMIM:213600	PDGFRB	5159	HP:0001337	Tremor
OMIM:213600	PDGFRB	5159	HP:0002075	Dysdiadochokinesis
OMIM:213600	PDGFRB	5159	HP:0002063	Rigidity
OMIM:213600	PDGFRB	5159	HP:0001332	Dystonia
OMIM:213600	SLC20A2	6575	HP:0000716	Depressivity
OMIM:213600	SLC20A2	6575	HP:0000298	Mask-like facies
OMIM:213600	SLC20A2	6575	HP:0001260	Dysarthria
OMIM:213600	SLC20A2	6575	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	SLC20A2	6575	HP:0002504	Calcification of the small brain vessels
OMIM:213600	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:213600	SLC20A2	6575	HP:0002305	Athetosis
OMIM:213600	SLC20A2	6575	HP:0003581	Adult onset
OMIM:213600	SLC20A2	6575	HP:0002406	Limb dysmetria
OMIM:213600	SLC20A2	6575	HP:0002354	Memory impairment
OMIM:213600	SLC20A2	6575	HP:0002072	Chorea
OMIM:213600	SLC20A2	6575	HP:0002172	Postural instability
OMIM:213600	SLC20A2	6575	HP:0003676	Progressive
OMIM:213600	SLC20A2	6575	HP:0000006	Autosomal dominant inheritance
OMIM:213600	SLC20A2	6575	HP:0001268	Mental deterioration
OMIM:213600	SLC20A2	6575	HP:0000020	Urinary incontinence
OMIM:213600	SLC20A2	6575	HP:0002135	Basal ganglia calcification
OMIM:213600	SLC20A2	6575	HP:0001347	Hyperreflexia
OMIM:213600	SLC20A2	6575	HP:0002067	Bradykinesia
OMIM:213600	SLC20A2	6575	HP:0001288	Gait disturbance
OMIM:213600	SLC20A2	6575	HP:0000709	Psychosis
OMIM:213600	SLC20A2	6575	HP:0001337	Tremor
OMIM:213600	SLC20A2	6575	HP:0002075	Dysdiadochokinesis
OMIM:213600	SLC20A2	6575	HP:0002063	Rigidity
OMIM:213600	SLC20A2	6575	HP:0001332	Dystonia
OMIM:616217	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:616217	DCDC2	51473	HP:0001395	Hepatic fibrosis
OMIM:616217	DCDC2	51473	HP:0001744	Splenomegaly
OMIM:616217	DCDC2	51473	HP:0001396	Cholestasis
OMIM:616217	DCDC2	51473	HP:0000090	Nephronophthisis
OMIM:616217	DCDC2	51473	HP:0002240	Hepatomegaly
OMIM:616217	DCDC2	51473	HP:0001408	Bile duct proliferation
OMIM:616217	DCDC2	51473	HP:0003774	Stage 5 chronic kidney disease
OMIM:232600	PYGM	5837	HP:0003201	Rhabdomyolysis
OMIM:232600	PYGM	5837	HP:0000007	Autosomal recessive inheritance
OMIM:232600	PYGM	5837	HP:0003710	Exercise-induced muscle cramps
OMIM:232600	PYGM	5837	HP:0002913	Myoglobinuria
OMIM:232600	PYGM	5837	HP:0001324	Muscle weakness
OMIM:232600	PYGM	5837	HP:0003738	Exercise-induced myalgia
OMIM:232600	PYGM	5837	HP:0003581	Adult onset
OMIM:232600	PYGM	5837	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:2036	KCTD1	284252	HP:0000951	Abnormality of the skin
ORPHA:2036	KCTD1	284252	HP:0008070	Sparse hair
ORPHA:2036	KCTD1	284252	HP:0001965	Abnormality of the scalp
ORPHA:2036	KCTD1	284252	HP:0000506	Telecanthus
ORPHA:2036	KCTD1	284252	HP:0000684	Delayed eruption of teeth
ORPHA:2036	KCTD1	284252	HP:0000822	Hypertension
ORPHA:2036	KCTD1	284252	HP:0000010	Recurrent urinary tract infections
ORPHA:2036	KCTD1	284252	HP:0011251	Underdeveloped antitragus
ORPHA:2036	KCTD1	284252	HP:0000385	Small earlobe
ORPHA:2036	KCTD1	284252	HP:0100540	Palpebral edema
ORPHA:2036	KCTD1	284252	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHA:2036	KCTD1	284252	HP:0000518	Cataract
ORPHA:2036	KCTD1	284252	HP:0100651	Type I diabetes mellitus
ORPHA:2036	KCTD1	284252	HP:0001231	Abnormality of the fingernails
ORPHA:2036	KCTD1	284252	HP:0100783	Breast aplasia
ORPHA:2036	KCTD1	284252	HP:0008551	Microtia
ORPHA:2036	KCTD1	284252	HP:0011272	Underdeveloped tragus
ORPHA:2036	KCTD1	284252	HP:0009738	Abnormality of the antihelix
OMIM:265050	COLEC11	78989	HP:0000316	Hypertelorism
OMIM:265050	COLEC11	78989	HP:0010759	Prominence of the premaxilla
OMIM:265050	COLEC11	78989	HP:0001363	Craniosynostosis
OMIM:265050	COLEC11	78989	HP:0000289	Broad philtrum
OMIM:265050	COLEC11	78989	HP:0002827	Hip dislocation
OMIM:265050	COLEC11	78989	HP:0000537	Epicanthus inversus
OMIM:265050	COLEC11	78989	HP:0001382	Joint hypermobility
OMIM:265050	COLEC11	78989	HP:0000007	Autosomal recessive inheritance
OMIM:265050	COLEC11	78989	HP:0000028	Cryptorchidism
OMIM:265050	COLEC11	78989	HP:0005243	Partial abdominal muscle agenesis
OMIM:265050	COLEC11	78989	HP:0009004	Hypoplasia of the musculature
OMIM:265050	COLEC11	78989	HP:0000337	Broad forehead
OMIM:265050	COLEC11	78989	HP:0002714	Downturned corners of mouth
OMIM:265050	COLEC11	78989	HP:0000175	Cleft palate
OMIM:265050	COLEC11	78989	HP:0001263	Global developmental delay
OMIM:265050	COLEC11	78989	HP:0000494	Downslanted palpebral fissures
OMIM:265050	COLEC11	78989	HP:0002553	Highly arched eyebrow
OMIM:265050	COLEC11	78989	HP:0002825	Caudal appendage
OMIM:265050	COLEC11	78989	HP:0000486	Strabismus
OMIM:265050	COLEC11	78989	HP:0002996	Limited elbow movement
OMIM:265050	COLEC11	78989	HP:0008897	Postnatal growth retardation
OMIM:265050	COLEC11	78989	HP:0001540	Diastasis recti
OMIM:265050	COLEC11	78989	HP:0000437	Depressed nasal tip
OMIM:265050	COLEC11	78989	HP:0000508	Ptosis
OMIM:265050	COLEC11	78989	HP:0000581	Blepharophimosis
OMIM:265050	COLEC11	78989	HP:0000473	Torticollis
OMIM:265050	COLEC11	78989	HP:0000431	Wide nasal bridge
OMIM:265050	COLEC11	78989	HP:0000204	Cleft upper lip
OMIM:265050	COLEC11	78989	HP:0003468	Abnormal vertebral morphology
OMIM:265050	COLEC11	78989	HP:0000426	Prominent nasal bridge
ORPHA:444	EPS8L3	79574	HP:0001596	Alopecia
ORPHA:444	EPS8L3	79574	HP:0002209	Sparse scalp hair
ORPHA:444	EPS8L3	79574	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:444	EPS8L3	79574	HP:0002208	Coarse hair
ORPHA:444	EPS8L3	79574	HP:0200102	Sparse or absent eyelashes
ORPHA:444	HR	55806	HP:0001596	Alopecia
ORPHA:444	HR	55806	HP:0002209	Sparse scalp hair
ORPHA:444	HR	55806	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:444	HR	55806	HP:0002208	Coarse hair
ORPHA:444	HR	55806	HP:0200102	Sparse or absent eyelashes
OMIM:614504	HARS	3035	HP:0000666	Horizontal nystagmus
OMIM:614504	HARS	3035	HP:0002078	Truncal ataxia
OMIM:614504	HARS	3035	HP:0000613	Photophobia
OMIM:614504	HARS	3035	HP:0000505	Visual impairment
OMIM:614504	HARS	3035	HP:0000007	Autosomal recessive inheritance
OMIM:614504	HARS	3035	HP:0000365	Hearing impairment
OMIM:614504	HARS	3035	HP:0000543	Optic disc pallor
OMIM:614504	HARS	3035	HP:0002194	Delayed gross motor development
ORPHA:2704	LRIG2	9860	HP:0000028	Cryptorchidism
ORPHA:2704	LRIG2	9860	HP:0000126	Hydronephrosis
ORPHA:2704	LRIG2	9860	HP:0000796	Urethral obstruction
ORPHA:2704	LRIG2	9860	HP:0000020	Urinary incontinence
ORPHA:2704	LRIG2	9860	HP:0002019	Constipation
ORPHA:2704	LRIG2	9860	HP:0000010	Recurrent urinary tract infections
ORPHA:2704	LRIG2	9860	HP:0000076	Vesicoureteral reflux
ORPHA:2704	HPSE2	60495	HP:0000028	Cryptorchidism
ORPHA:2704	HPSE2	60495	HP:0000126	Hydronephrosis
ORPHA:2704	HPSE2	60495	HP:0000796	Urethral obstruction
ORPHA:2704	HPSE2	60495	HP:0000020	Urinary incontinence
ORPHA:2704	HPSE2	60495	HP:0002019	Constipation
ORPHA:2704	HPSE2	60495	HP:0000010	Recurrent urinary tract infections
ORPHA:2704	HPSE2	60495	HP:0000076	Vesicoureteral reflux
OMIM:230500	GLB1	2720	HP:0001249	Intellectual disability
OMIM:230500	GLB1	2720	HP:0008166	Decreased beta-galactosidase activity
OMIM:230500	GLB1	2720	HP:0001522	Death in infancy
OMIM:230500	GLB1	2720	HP:0000023	Inguinal hernia
OMIM:230500	GLB1	2720	HP:0002650	Scoliosis
OMIM:230500	GLB1	2720	HP:0000079	Abnormality of the urinary system
OMIM:230500	GLB1	2720	HP:0001071	Angiokeratoma corporis diffusum
OMIM:230500	GLB1	2720	HP:0002240	Hepatomegaly
OMIM:230500	GLB1	2720	HP:0000900	Thickened ribs
OMIM:230500	GLB1	2720	HP:0000280	Coarse facial features
OMIM:230500	GLB1	2720	HP:0003510	Severe short stature
OMIM:230500	GLB1	2720	HP:0001387	Joint stiffness
OMIM:230500	GLB1	2720	HP:0001635	Congestive heart failure
OMIM:230500	GLB1	2720	HP:0001922	Vacuolated lymphocytes
OMIM:230500	GLB1	2720	HP:0001744	Splenomegaly
OMIM:230500	GLB1	2720	HP:0008479	Hypoplastic vertebral bodies
OMIM:230500	GLB1	2720	HP:0001639	Hypertrophic cardiomyopathy
OMIM:230500	GLB1	2720	HP:0000457	Depressed nasal ridge
OMIM:230500	GLB1	2720	HP:0000470	Short neck
OMIM:230500	GLB1	2720	HP:0001654	Abnormality of the heart valves
OMIM:230500	GLB1	2720	HP:0000316	Hypertelorism
OMIM:230500	GLB1	2720	HP:0000998	Hypertrichosis
OMIM:230500	GLB1	2720	HP:0000212	Gingival overgrowth
OMIM:230500	GLB1	2720	HP:0007313	Cerebral degeneration
OMIM:230500	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230500	GLB1	2720	HP:0002808	Kyphosis
OMIM:230500	GLB1	2720	HP:0002007	Frontal bossing
OMIM:230500	GLB1	2720	HP:0001644	Dilated cardiomyopathy
OMIM:230500	GLB1	2720	HP:0004568	Beaking of vertebral bodies
OMIM:230500	GLB1	2720	HP:0010729	Cherry red spot of the macula
OMIM:201450	ACADM	34	HP:0001397	Hepatic steatosis
OMIM:201450	ACADM	34	HP:0001942	Metabolic acidosis
OMIM:201450	ACADM	34	HP:0001254	Lethargy
OMIM:201450	ACADM	34	HP:0002240	Hepatomegaly
OMIM:201450	ACADM	34	HP:0001943	Hypoglycemia
OMIM:201450	ACADM	34	HP:0003234	Decreased plasma carnitine
OMIM:201450	ACADM	34	HP:0001290	Generalized hypotonia
OMIM:201450	ACADM	34	HP:0002910	Elevated hepatic transaminases
OMIM:201450	ACADM	34	HP:0000007	Autosomal recessive inheritance
OMIM:201450	ACADM	34	HP:0003108	Hyperglycinuria
OMIM:201450	ACADM	34	HP:0001263	Global developmental delay
OMIM:201450	ACADM	34	HP:0002181	Cerebral edema
OMIM:201450	ACADM	34	HP:0001250	Seizures
OMIM:201450	ACADM	34	HP:0002013	Vomiting
OMIM:201450	ACADM	34	HP:0001259	Coma
OMIM:201450	ACADM	34	HP:0008309	Medium chain dicarboxylic aciduria
OMIM:255700	CLCN1	1180	HP:0003730	EMG: myotonic runs
OMIM:255700	CLCN1	1180	HP:0000007	Autosomal recessive inheritance
OMIM:255700	CLCN1	1180	HP:0003812	Phenotypic variability
OMIM:255700	CLCN1	1180	HP:0008968	Muscle hypertrophy of the lower extremities
OMIM:255700	CLCN1	1180	HP:0011463	Childhood onset
OMIM:255700	CLCN1	1180	HP:0002015	Dysphagia
OMIM:251850	MYO5B	4645	HP:0001522	Death in infancy
OMIM:251850	MYO5B	4645	HP:0001510	Growth delay
OMIM:251850	MYO5B	4645	HP:0004395	Malnutrition
OMIM:251850	MYO5B	4645	HP:0004385	Protracted diarrhea
OMIM:251850	MYO5B	4645	HP:0000007	Autosomal recessive inheritance
OMIM:251850	MYO5B	4645	HP:0011473	Villous atrophy
OMIM:251850	MYO5B	4645	HP:0001944	Dehydration
OMIM:617370	PEX3	8504	HP:0000348	High forehead
OMIM:617370	PEX3	8504	HP:0001290	Generalized hypotonia
OMIM:617370	PEX3	8504	HP:0006579	Prolonged neonatal jaundice
OMIM:617370	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:617370	PEX3	8504	HP:0001263	Global developmental delay
OMIM:617370	PEX3	8504	HP:0001258	Spastic paraplegia
OMIM:617370	PEX3	8504	HP:0000518	Cataract
OMIM:617370	PEX3	8504	HP:0000011	Neurogenic bladder
OMIM:617370	PEX3	8504	HP:0000358	Posteriorly rotated ears
OMIM:617370	PEX3	8504	HP:0000369	Low-set ears
OMIM:617370	PEX3	8504	HP:0000639	Nystagmus
OMIM:617370	PEX3	8504	HP:0000121	Nephrocalcinosis
OMIM:617370	PEX3	8504	HP:0001347	Hyperreflexia
OMIM:617370	PEX3	8504	HP:0003186	Inverted nipples
OMIM:122100	KRT12	3859	HP:0007856	Punctate opacification of the cornea
OMIM:122100	KRT12	3859	HP:0007663	Reduced visual acuity
OMIM:122100	KRT12	3859	HP:0001131	Corneal dystrophy
OMIM:122100	KRT12	3859	HP:0009926	Increased lacrimation
OMIM:122100	KRT12	3859	HP:0000006	Autosomal dominant inheritance
OMIM:122100	KRT12	3859	HP:0000613	Photophobia
OMIM:122100	KRT12	3859	HP:0003680	Nonprogressive
OMIM:122100	KRT3	3850	HP:0007856	Punctate opacification of the cornea
OMIM:122100	KRT3	3850	HP:0007663	Reduced visual acuity
OMIM:122100	KRT3	3850	HP:0001131	Corneal dystrophy
OMIM:122100	KRT3	3850	HP:0009926	Increased lacrimation
OMIM:122100	KRT3	3850	HP:0000006	Autosomal dominant inheritance
OMIM:122100	KRT3	3850	HP:0000613	Photophobia
OMIM:122100	KRT3	3850	HP:0003680	Nonprogressive
OMIM:614980	TAB2	23118	HP:0004764	Myxomatous mitral valve degeneration
OMIM:614980	TAB2	23118	HP:0000006	Autosomal dominant inheritance
OMIM:614980	TAB2	23118	HP:0001682	Subvalvular aortic stenosis
OMIM:614980	TAB2	23118	HP:0001636	Tetralogy of Fallot
OMIM:614980	TAB2	23118	HP:0001629	Ventricular septal defect
OMIM:614980	TAB2	23118	HP:0005110	Atrial fibrillation
OMIM:614980	TAB2	23118	HP:0001724	Aortic dilatation
OMIM:614980	TAB2	23118	HP:0001659	Aortic regurgitation
OMIM:614980	TAB2	23118	HP:0001647	Bicuspid aortic valve
OMIM:614980	TAB2	23118	HP:0001650	Aortic valve stenosis
OMIM:124200	ATP2A2	488	HP:0001807	Ridged nail
OMIM:124200	ATP2A2	488	HP:0000006	Autosomal dominant inheritance
OMIM:124200	ATP2A2	488	HP:0007302	Bipolar affective disorder
OMIM:124200	ATP2A2	488	HP:0100753	Schizophrenia
OMIM:124200	ATP2A2	488	HP:0008410	Subungual hyperkeratotic fragments
OMIM:124200	ATP2A2	488	HP:0200016	Acrokeratosis
OMIM:124200	ATP2A2	488	HP:0001256	Intellectual disability, mild
OMIM:124200	ATP2A2	488	HP:0010612	Plantar pits
OMIM:124200	ATP2A2	488	HP:0000989	Pruritus
OMIM:124200	ATP2A2	488	HP:0001250	Seizures
OMIM:124200	ATP2A2	488	HP:0010610	Palmar pits
OMIM:124200	ATP2A2	488	HP:0011801	Enlargement of parotid gland
OMIM:607080	DHH	50846	HP:0001271	Polyneuropathy
OMIM:607080	DHH	50846	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607080	DHH	50846	HP:0000133	Gonadal dysgenesis
OMIM:607080	DHH	50846	HP:0008668	Gonadal dysgenesis, male
OMIM:614186	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:614186	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:614186	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:614186	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:614186	KCNJ13	3769	HP:0000518	Cataract
OMIM:614186	KCNJ13	3769	HP:0000613	Photophobia
OMIM:614186	KCNJ13	3769	HP:0000543	Optic disc pallor
OMIM:614186	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:609265	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:609265	CHEK2	11200	HP:0003002	Breast carcinoma
OMIM:609265	CHEK2	11200	HP:0012126	Stomach cancer
OMIM:609265	CHEK2	11200	HP:0100242	Sarcoma
OMIM:609265	CHEK2	11200	HP:0002858	Meningioma
OMIM:609265	CHEK2	11200	HP:0009733	Glioma
ORPHA:2576	TRIM37	4591	HP:0000431	Wide nasal bridge
ORPHA:2576	TRIM37	4591	HP:0001620	High pitched voice
ORPHA:2576	TRIM37	4591	HP:0002680	J-shaped sella turcica
ORPHA:2576	TRIM37	4591	HP:0000256	Macrocephaly
ORPHA:2576	TRIM37	4591	HP:0001511	Intrauterine growth retardation
ORPHA:2576	TRIM37	4591	HP:0004322	Short stature
ORPHA:2576	TRIM37	4591	HP:0004326	Cachexia
ORPHA:2576	TRIM37	4591	HP:0002240	Hepatomegaly
ORPHA:2576	TRIM37	4591	HP:0001315	Reduced tendon reflexes
ORPHA:228402	MBD5	55777	HP:0004209	Clinodactyly of the 5th finger
ORPHA:228402	MBD5	55777	HP:0010804	Tented upper lip vermilion
ORPHA:228402	MBD5	55777	HP:0000252	Microcephaly
ORPHA:228402	MBD5	55777	HP:0000280	Coarse facial features
ORPHA:228402	MBD5	55777	HP:0001250	Seizures
ORPHA:228402	MBD5	55777	HP:0100716	Self-injurious behavior
ORPHA:228402	MBD5	55777	HP:0010864	Intellectual disability, severe
ORPHA:228402	MBD5	55777	HP:0002360	Sleep disturbance
ORPHA:228402	MBD5	55777	HP:0004279	Short palm
ORPHA:228402	MBD5	55777	HP:0001852	Sandal gap
ORPHA:228402	MBD5	55777	HP:0000194	Open mouth
ORPHA:228402	MBD5	55777	HP:0001252	Muscular hypotonia
ORPHA:228402	MBD5	55777	HP:0000248	Brachycephaly
ORPHA:228402	MBD5	55777	HP:0000232	Everted lower lip vermilion
ORPHA:228402	MBD5	55777	HP:0000733	Stereotypy
ORPHA:228402	MBD5	55777	HP:0002019	Constipation
ORPHA:228402	MBD5	55777	HP:0002230	Generalized hirsutism
ORPHA:228402	MBD5	55777	HP:0000664	Synophrys
ORPHA:228402	MBD5	55777	HP:0004322	Short stature
ORPHA:228402	MBD5	55777	HP:0002553	Highly arched eyebrow
ORPHA:228402	MBD5	55777	HP:0001251	Ataxia
ORPHA:228402	MBD5	55777	HP:0000750	Delayed speech and language development
ORPHA:228402	MBD5	55777	HP:0000337	Broad forehead
ORPHA:228402	MBD5	55777	HP:0000272	Malar flattening
ORPHA:228402	MBD5	55777	HP:0000752	Hyperactivity
ORPHA:228402	MBD5	55777	HP:0000749	Paroxysmal bursts of laughter
ORPHA:228402	MBD5	55777	HP:0002591	Polyphagia
OMIM:228520	COL11A1	1301	HP:0000773	Short ribs
OMIM:228520	COL11A1	1301	HP:0003826	Stillbirth
OMIM:228520	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:228520	COL11A1	1301	HP:0000882	Hypoplastic scapulae
OMIM:228520	COL11A1	1301	HP:0009473	Joint contracture of the hand
OMIM:228520	COL11A1	1301	HP:0005476	Widely patent sagittal suture
OMIM:228520	COL11A1	1301	HP:0008451	Posterior vertebral hypoplasia
OMIM:228520	COL11A1	1301	HP:0001800	Hypoplastic toenails
OMIM:228520	COL11A1	1301	HP:0000926	Platyspondyly
OMIM:228520	COL11A1	1301	HP:0001773	Short foot
OMIM:228520	COL11A1	1301	HP:0008905	Rhizomelia
OMIM:228520	COL11A1	1301	HP:0000520	Proptosis
OMIM:228520	COL11A1	1301	HP:0003175	Hypoplastic ischia
OMIM:228520	COL11A1	1301	HP:0001655	Patent foramen ovale
OMIM:228520	COL11A1	1301	HP:0003026	Short long bone
OMIM:228520	COL11A1	1301	HP:0000470	Short neck
OMIM:228520	COL11A1	1301	HP:0005257	Thoracic hypoplasia
OMIM:228520	COL11A1	1301	HP:0000260	Wide anterior fontanel
OMIM:228520	COL11A1	1301	HP:0003038	Fibular hypoplasia
OMIM:228520	COL11A1	1301	HP:0100865	Broad ischia
OMIM:228520	COL11A1	1301	HP:0003196	Short nose
OMIM:228520	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:228520	COL11A1	1301	HP:0000485	Megalocornea
OMIM:228520	COL11A1	1301	HP:0001804	Hypoplastic fingernail
OMIM:228520	COL11A1	1301	HP:0000369	Low-set ears
OMIM:228520	COL11A1	1301	HP:0000377	Abnormality of the pinna
OMIM:228520	COL11A1	1301	HP:0006645	Thin clavicles
OMIM:228520	COL11A1	1301	HP:0005622	Broad long bones
OMIM:228520	COL11A1	1301	HP:0001539	Omphalocele
OMIM:228520	COL11A1	1301	HP:0000160	Narrow mouth
OMIM:228520	COL11A1	1301	HP:0000272	Malar flattening
OMIM:228520	COL11A1	1301	HP:0000907	Anterior rib cupping
OMIM:228520	COL11A1	1301	HP:0000343	Long philtrum
OMIM:228520	COL11A1	1301	HP:0000007	Autosomal recessive inheritance
OMIM:228520	COL11A1	1301	HP:0004209	Clinodactyly of the 5th finger
OMIM:228520	COL11A1	1301	HP:0000883	Thin ribs
OMIM:228520	COL11A1	1301	HP:0000922	Posterior rib cupping
OMIM:228520	COL11A1	1301	HP:0003375	Narrow greater sacrosciatic notches
OMIM:228520	COL11A1	1301	HP:0012385	Camptodactyly
OMIM:228520	COL11A1	1301	HP:0001538	Protuberant abdomen
OMIM:228520	COL11A1	1301	HP:0002007	Frontal bossing
OMIM:228520	COL11A1	1301	HP:0005442	Widely patent coronal suture
OMIM:228520	COL11A1	1301	HP:0000947	Dumbbell-shaped long bone
OMIM:228520	COL11A1	1301	HP:0000890	Long clavicles
OMIM:228520	COL11A1	1301	HP:0001789	Hydrops fetalis
OMIM:228520	COL11A1	1301	HP:0200055	Small hand
OMIM:228520	COL11A1	1301	HP:0004279	Short palm
OMIM:228520	COL11A1	1301	HP:0000175	Cleft palate
OMIM:266510	PEX12	5193	HP:0001249	Intellectual disability
OMIM:266510	PEX12	5193	HP:0000272	Malar flattening
OMIM:266510	PEX12	5193	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX12	5193	HP:0000939	Osteoporosis
OMIM:266510	PEX12	5193	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX12	5193	HP:0001290	Generalized hypotonia
OMIM:266510	PEX12	5193	HP:0001265	Hyporeflexia
OMIM:266510	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:266510	PEX12	5193	HP:0001263	Global developmental delay
OMIM:266510	PEX12	5193	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX12	5193	HP:0001999	Abnormal facial shape
OMIM:266510	PEX12	5193	HP:0001892	Abnormal bleeding
OMIM:266510	PEX12	5193	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX12	5193	HP:0012368	Flat face
OMIM:266510	PEX12	5193	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX12	5193	HP:0008167	Very long chain fatty acid accumulation
OMIM:266510	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX12	5193	HP:0001271	Polyneuropathy
OMIM:266510	PEX12	5193	HP:0001508	Failure to thrive
OMIM:266510	PEX12	5193	HP:0003577	Congenital onset
OMIM:266510	PEX12	5193	HP:0002570	Steatorrhea
OMIM:615923	NPR2	4882	HP:0000938	Osteopenia
OMIM:615923	NPR2	4882	HP:0001166	Arachnodactyly
OMIM:615923	NPR2	4882	HP:0000098	Tall stature
OMIM:615923	NPR2	4882	HP:0000006	Autosomal dominant inheritance
OMIM:615923	NPR2	4882	HP:0010055	Broad hallux
OMIM:615923	NPR2	4882	HP:0001847	Long hallux
OMIM:615923	NPR2	4882	HP:0002650	Scoliosis
OMIM:606721	CAV1	857	HP:0000639	Nystagmus
OMIM:606721	CAV1	857	HP:0000833	Glucose intolerance
OMIM:606721	CAV1	857	HP:0000519	Congenital cataract
OMIM:606721	CAV1	857	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:606721	CAV1	857	HP:0001278	Orthostatic hypotension
OMIM:606721	CAV1	857	HP:0005995	Decreased adipose tissue around neck
OMIM:606721	CAV1	857	HP:0003828	Variable expressivity
OMIM:606721	CAV1	857	HP:0007340	Lower limb muscle weakness
OMIM:606721	CAV1	857	HP:0007485	Absence of subcutaneous fat
OMIM:606721	CAV1	857	HP:0000006	Autosomal dominant inheritance
OMIM:606721	CAV1	857	HP:0003487	Babinski sign
OMIM:606721	CAV1	857	HP:0005320	Lack of facial subcutaneous fat
OMIM:606721	CAV1	857	HP:0000855	Insulin resistance
OMIM:606721	CAV1	857	HP:0000271	Abnormality of the face
OMIM:606721	CAV1	857	HP:0009125	Lipodystrophy
OMIM:606721	CAV1	857	HP:0001733	Pancreatitis
OMIM:606721	CAV1	857	HP:0000580	Pigmentary retinopathy
OMIM:606721	CAV1	857	HP:0001310	Dysmetria
OMIM:606721	CAV1	857	HP:0002169	Clonus
OMIM:606721	CAV1	857	HP:0002936	Distal sensory impairment
OMIM:606721	CAV1	857	HP:0002066	Gait ataxia
OMIM:606721	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:606721	CAV1	857	HP:0003124	Hypercholesterolemia
OMIM:615872	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615872	CCNO	10309	HP:0012265	Ciliary dyskinesia
OMIM:615872	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615872	CCNO	10309	HP:0100750	Atelectasis
OMIM:615872	CCNO	10309	HP:0003676	Progressive
OMIM:615872	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:114290	SOX9	6662	HP:0002104	Apnea
OMIM:114290	SOX9	6662	HP:0005035	Shortening of all phalanges of the toes
OMIM:114290	SOX9	6662	HP:0000274	Small face
OMIM:114290	SOX9	6662	HP:0008434	Hypoplastic cervical vertebrae
OMIM:114290	SOX9	6662	HP:0008873	Disproportionate short-limb short stature
OMIM:114290	SOX9	6662	HP:0006390	Anterior tibial bowing
OMIM:114290	SOX9	6662	HP:0000369	Low-set ears
OMIM:114290	SOX9	6662	HP:0003038	Fibular hypoplasia
OMIM:114290	SOX9	6662	HP:0001290	Generalized hypotonia
OMIM:114290	SOX9	6662	HP:0002786	Tracheobronchomalacia
OMIM:114290	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:114290	SOX9	6662	HP:0002098	Respiratory distress
OMIM:114290	SOX9	6662	HP:0000457	Depressed nasal ridge
OMIM:114290	SOX9	6662	HP:0000175	Cleft palate
OMIM:114290	SOX9	6662	HP:0000883	Thin ribs
OMIM:114290	SOX9	6662	HP:0008477	Poorly ossified cervical vertebrae
OMIM:114290	SOX9	6662	HP:0002866	Hypoplastic iliac wing
OMIM:114290	SOX9	6662	HP:0000238	Hydrocephalus
OMIM:114290	SOX9	6662	HP:0011910	Shortening of all phalanges of fingers
OMIM:114290	SOX9	6662	HP:0000581	Blepharophimosis
OMIM:114290	SOX9	6662	HP:0000365	Hearing impairment
OMIM:114290	SOX9	6662	HP:0002980	Femoral bowing
OMIM:114290	SOX9	6662	HP:0005257	Thoracic hypoplasia
OMIM:114290	SOX9	6662	HP:0000878	11 pairs of ribs
OMIM:114290	SOX9	6662	HP:0000126	Hydronephrosis
OMIM:114290	SOX9	6662	HP:0001627	Abnormal heart morphology
OMIM:114290	SOX9	6662	HP:0012245	Sex reversal
OMIM:114290	SOX9	6662	HP:0000882	Hypoplastic scapulae
OMIM:114290	SOX9	6662	HP:0005280	Depressed nasal bridge
OMIM:114290	SOX9	6662	HP:0002827	Hip dislocation
OMIM:114290	SOX9	6662	HP:0000260	Wide anterior fontanel
OMIM:114290	SOX9	6662	HP:0002751	Kyphoscoliosis
OMIM:114290	SOX9	6662	HP:0012745	Short palpebral fissure
OMIM:114290	SOX9	6662	HP:0001762	Talipes equinovarus
OMIM:114290	SOX9	6662	HP:0001508	Failure to thrive
OMIM:114290	SOX9	6662	HP:0001561	Polyhydramnios
OMIM:114290	SOX9	6662	HP:0006628	Absent sternal ossification
OMIM:114290	SOX9	6662	HP:0000347	Micrognathia
OMIM:114290	SOX9	6662	HP:0000348	High forehead
OMIM:114290	SOX9	6662	HP:0000256	Macrocephaly
OMIM:114290	SOX9	6662	HP:0000316	Hypertelorism
OMIM:114290	SOX9	6662	HP:0008921	Neonatal short-limb short stature
OMIM:615516	HERC2	8924	HP:0000718	Aggressive behavior
OMIM:615516	HERC2	8924	HP:0001249	Intellectual disability
OMIM:615516	HERC2	8924	HP:0003593	Infantile onset
OMIM:615516	HERC2	8924	HP:0001290	Generalized hypotonia
OMIM:615516	HERC2	8924	HP:0000007	Autosomal recessive inheritance
OMIM:615516	HERC2	8924	HP:0000752	Hyperactivity
OMIM:615516	HERC2	8924	HP:0000303	Mandibular prognathia
OMIM:615516	HERC2	8924	HP:0000189	Narrow palate
OMIM:615516	HERC2	8924	HP:0000486	Strabismus
OMIM:615516	HERC2	8924	HP:0001263	Global developmental delay
OMIM:615516	HERC2	8924	HP:0001852	Sandal gap
OMIM:615516	HERC2	8924	HP:0001357	Plagiocephaly
OMIM:615516	HERC2	8924	HP:0000742	Self-mutilation
OMIM:615516	HERC2	8924	HP:0000635	Blue irides
OMIM:615516	HERC2	8924	HP:0002317	Unsteady gait
OMIM:612965	NR5A1	2516	HP:0000808	Penoscrotal hypospadias
OMIM:612965	NR5A1	2516	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	NR5A1	2516	HP:0000133	Gonadal dysgenesis
OMIM:612965	NR5A1	2516	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	NR5A1	2516	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:612965	NR5A1	2516	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:612965	NR5A1	2516	HP:0012245	Sex reversal
OMIM:236700	MKKS	8195	HP:0001162	Postaxial hand polydactyly
OMIM:236700	MKKS	8195	HP:0000148	Vaginal atresia
OMIM:236700	MKKS	8195	HP:0000028	Cryptorchidism
OMIM:236700	MKKS	8195	HP:0001586	Vesicovaginal fistula
OMIM:236700	MKKS	8195	HP:0001159	Syndactyly
OMIM:236700	MKKS	8195	HP:0002089	Pulmonary hypoplasia
OMIM:236700	MKKS	8195	HP:0000007	Autosomal recessive inheritance
OMIM:236700	MKKS	8195	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:236700	MKKS	8195	HP:0000143	Rectovaginal fistula
OMIM:236700	MKKS	8195	HP:0000113	Polycystic kidney dysplasia
OMIM:236700	MKKS	8195	HP:0000126	Hydronephrosis
OMIM:236700	MKKS	8195	HP:0001374	Congenital hip dislocation
OMIM:236700	MKKS	8195	HP:0030010	Hydrometrocolpos
OMIM:236700	MKKS	8195	HP:0000072	Hydroureter
OMIM:236700	MKKS	8195	HP:0010741	Edema of the lower limbs
OMIM:236700	MKKS	8195	HP:0006159	Mesoaxial hand polydactyly
OMIM:236700	MKKS	8195	HP:0000145	Transverse vaginal septum
OMIM:236700	MKKS	8195	HP:0000969	Edema
OMIM:236700	MKKS	8195	HP:0002251	Aganglionic megacolon
OMIM:236700	MKKS	8195	HP:0002023	Anal atresia
OMIM:611040	MFRP	83552	HP:0000510	Rod-cone dystrophy
OMIM:611040	MFRP	83552	HP:0000662	Nyctalopia
OMIM:611040	MFRP	83552	HP:0000505	Visual impairment
OMIM:611040	MFRP	83552	HP:0000007	Autosomal recessive inheritance
OMIM:611040	MFRP	83552	HP:0000493	Abnormality of the fovea
OMIM:611040	MFRP	83552	HP:0000540	Hypermetropia
OMIM:611040	MFRP	83552	HP:0007722	Retinal pigment epithelial atrophy
OMIM:611040	MFRP	83552	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:611040	MFRP	83552	HP:0011510	Drusen
OMIM:611040	MFRP	83552	HP:0000568	Microphthalmia
OMIM:611040	MFRP	83552	HP:0012426	Optic disc drusen
OMIM:611040	MFRP	83552	HP:0007737	Bone spicule pigmentation of the retina
OMIM:611040	MFRP	83552	HP:0007663	Reduced visual acuity
OMIM:611040	MFRP	83552	HP:0012152	Foveoschisis
OMIM:611040	MFRP	83552	HP:0001000	Abnormality of skin pigmentation
OMIM:611040	MFRP	83552	HP:0030823	Scleral thickening
OMIM:611040	MFRP	83552	HP:0000591	Abnormality of the sclera
OMIM:612999	SYNE2	23224	HP:0001638	Cardiomyopathy
OMIM:612999	SYNE2	23224	HP:0003812	Phenotypic variability
OMIM:612999	SYNE2	23224	HP:0011463	Childhood onset
OMIM:612999	SYNE2	23224	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612999	SYNE2	23224	HP:0003701	Proximal muscle weakness
OMIM:612999	SYNE2	23224	HP:0007126	Proximal amyotrophy
OMIM:612999	SYNE2	23224	HP:0002093	Respiratory insufficiency
OMIM:612999	SYNE2	23224	HP:0011675	Arrhythmia
OMIM:612999	SYNE2	23224	HP:0000006	Autosomal dominant inheritance
OMIM:612999	SYNE2	23224	HP:0003560	Muscular dystrophy
OMIM:615957	ELOVL5	60481	HP:0000006	Autosomal dominant inheritance
OMIM:615957	ELOVL5	60481	HP:0001260	Dysarthria
OMIM:615957	ELOVL5	60481	HP:0003677	Slow progression
OMIM:615957	ELOVL5	60481	HP:0001272	Cerebellar atrophy
OMIM:615957	ELOVL5	60481	HP:0002066	Gait ataxia
OMIM:615957	ELOVL5	60481	HP:0000639	Nystagmus
OMIM:615957	ELOVL5	60481	HP:0000514	Slow saccadic eye movements
OMIM:615957	ELOVL5	60481	HP:0002070	Limb ataxia
OMIM:614497	ABCB6	10058	HP:0000589	Coloboma
OMIM:614497	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO7A	4647	HP:0002321	Vertigo
OMIM:601317	MYO7A	4647	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:609180	MPDU1	9526	HP:0000252	Microcephaly
OMIM:609180	MPDU1	9526	HP:0001371	Flexion contracture
OMIM:609180	MPDU1	9526	HP:0001508	Failure to thrive
OMIM:609180	MPDU1	9526	HP:0040189	Scaling skin
OMIM:609180	MPDU1	9526	HP:0000962	Hyperkeratosis
OMIM:609180	MPDU1	9526	HP:0001019	Erythroderma
OMIM:609180	MPDU1	9526	HP:0001250	Seizures
OMIM:609180	MPDU1	9526	HP:0001344	Absent speech
OMIM:609180	MPDU1	9526	HP:0002059	Cerebral atrophy
OMIM:609180	MPDU1	9526	HP:0003577	Congenital onset
OMIM:609180	MPDU1	9526	HP:0001251	Ataxia
OMIM:609180	MPDU1	9526	HP:0000648	Optic atrophy
OMIM:609180	MPDU1	9526	HP:0000639	Nystagmus
OMIM:609180	MPDU1	9526	HP:0001290	Generalized hypotonia
OMIM:609180	MPDU1	9526	HP:0000486	Strabismus
OMIM:609180	MPDU1	9526	HP:0000958	Dry skin
OMIM:609180	MPDU1	9526	HP:0001263	Global developmental delay
OMIM:609180	MPDU1	9526	HP:0000007	Autosomal recessive inheritance
OMIM:603513	GAD1	2571	HP:0002650	Scoliosis
OMIM:603513	GAD1	2571	HP:0001250	Seizures
OMIM:603513	GAD1	2571	HP:0000252	Microcephaly
OMIM:603513	GAD1	2571	HP:0003487	Babinski sign
OMIM:603513	GAD1	2571	HP:0000007	Autosomal recessive inheritance
OMIM:603513	GAD1	2571	HP:0001249	Intellectual disability
OMIM:603513	GAD1	2571	HP:0003593	Infantile onset
OMIM:603513	GAD1	2571	HP:0001347	Hyperreflexia
OMIM:603513	GAD1	2571	HP:0001263	Global developmental delay
OMIM:603513	GAD1	2571	HP:0001371	Flexion contracture
OMIM:603513	GAD1	2571	HP:0002510	Spastic tetraplegia
OMIM:603513	GAD1	2571	HP:0001425	Heterogeneous
OMIM:603513	GAD1	2571	HP:0100021	Cerebral palsy
OMIM:603513	GAD1	2571	HP:0001264	Spastic diplegia
OMIM:617024	GNB3	2784	HP:0000662	Nyctalopia
OMIM:617024	GNB3	2784	HP:0000007	Autosomal recessive inheritance
OMIM:617024	GNB3	2784	HP:0000613	Photophobia
OMIM:613581	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:613581	IMPG2	50939	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613581	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613581	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:309583	SMS	6611	HP:0001419	X-linked recessive inheritance
OMIM:309583	SMS	6611	HP:0000768	Pectus carinatum
OMIM:309583	SMS	6611	HP:0001249	Intellectual disability
OMIM:309583	SMS	6611	HP:0001762	Talipes equinovarus
OMIM:309583	SMS	6611	HP:0000098	Tall stature
OMIM:309583	SMS	6611	HP:0011003	Severe Myopia
OMIM:309583	SMS	6611	HP:0004283	Narrow palm
OMIM:309583	SMS	6611	HP:0004322	Short stature
OMIM:309583	SMS	6611	HP:0006610	Wide intermamillary distance
OMIM:309583	SMS	6611	HP:0000028	Cryptorchidism
OMIM:309583	SMS	6611	HP:0002751	Kyphoscoliosis
OMIM:309583	SMS	6611	HP:0000465	Webbed neck
OMIM:309583	SMS	6611	HP:0001187	Hyperextensibility of the finger joints
OMIM:309583	SMS	6611	HP:0011302	Long palm
OMIM:309583	SMS	6611	HP:0001250	Seizures
OMIM:309583	SMS	6611	HP:0001611	Nasal speech
OMIM:309583	SMS	6611	HP:0000377	Abnormality of the pinna
OMIM:309583	SMS	6611	HP:0002705	High, narrow palate
OMIM:309583	SMS	6611	HP:0003199	Decreased muscle mass
OMIM:309583	SMS	6611	HP:0001260	Dysarthria
OMIM:309583	SMS	6611	HP:0003812	Phenotypic variability
OMIM:309583	SMS	6611	HP:0100807	Long fingers
OMIM:309583	SMS	6611	HP:0001290	Generalized hypotonia
OMIM:309583	SMS	6611	HP:0001847	Long hallux
OMIM:309583	SMS	6611	HP:0000316	Hypertelorism
OMIM:309583	SMS	6611	HP:0000303	Mandibular prognathia
OMIM:309583	SMS	6611	HP:0000193	Bifid uvula
OMIM:309583	SMS	6611	HP:0002757	Recurrent fractures
OMIM:309583	SMS	6611	HP:0000767	Pectus excavatum
OMIM:309583	SMS	6611	HP:0000322	Short philtrum
OMIM:309583	SMS	6611	HP:0000324	Facial asymmetry
OMIM:309583	SMS	6611	HP:0002136	Broad-based gait
OMIM:309583	SMS	6611	HP:0000175	Cleft palate
OMIM:309583	SMS	6611	HP:0000939	Osteoporosis
OMIM:309583	SMS	6611	HP:0000678	Dental crowding
OMIM:309583	SMS	6611	HP:0000179	Thick lower lip vermilion
OMIM:254110	TRIM32	22954	HP:0003560	Muscular dystrophy
OMIM:254110	TRIM32	22954	HP:0003547	Shoulder girdle muscle weakness
OMIM:254110	TRIM32	22954	HP:0003391	Gowers sign
OMIM:254110	TRIM32	22954	HP:0003557	Increased variability in muscle fiber diameter
OMIM:254110	TRIM32	22954	HP:0003731	Quadriceps muscle weakness
OMIM:254110	TRIM32	22954	HP:0003812	Phenotypic variability
OMIM:254110	TRIM32	22954	HP:0010628	Facial palsy
OMIM:254110	TRIM32	22954	HP:0003458	EMG: myopathic abnormalities
OMIM:254110	TRIM32	22954	HP:0003707	Calf muscle pseudohypertrophy
OMIM:254110	TRIM32	22954	HP:0000007	Autosomal recessive inheritance
OMIM:254110	TRIM32	22954	HP:0001284	Areflexia
OMIM:254110	TRIM32	22954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:254110	TRIM32	22954	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:254110	TRIM32	22954	HP:0003722	Neck flexor weakness
OMIM:254110	TRIM32	22954	HP:0003738	Exercise-induced myalgia
OMIM:254110	TRIM32	22954	HP:0003724	Shoulder girdle muscle atrophy
OMIM:254110	TRIM32	22954	HP:0008988	Pelvic girdle muscle atrophy
OMIM:254110	TRIM32	22954	HP:0001265	Hyporeflexia
OMIM:254110	TRIM32	22954	HP:0002515	Waddling gait
OMIM:254110	TRIM32	22954	HP:0003749	Pelvic girdle muscle weakness
OMIM:254110	TRIM32	22954	HP:0003677	Slow progression
ORPHA:565	ATP7A	538	HP:0000174	Abnormality of the palate
ORPHA:565	ATP7A	538	HP:0002024	Malabsorption
ORPHA:565	ATP7A	538	HP:0001250	Seizures
ORPHA:565	ATP7A	538	HP:0001072	Thickened skin
ORPHA:565	ATP7A	538	HP:0000708	Behavioral abnormality
ORPHA:565	ATP7A	538	HP:0000252	Microcephaly
ORPHA:565	ATP7A	538	HP:0000774	Narrow chest
ORPHA:565	ATP7A	538	HP:0000298	Mask-like facies
ORPHA:565	ATP7A	538	HP:0008070	Sparse hair
ORPHA:565	ATP7A	538	HP:0005344	Abnormal carotid artery morphology
ORPHA:565	ATP7A	538	HP:0001249	Intellectual disability
ORPHA:565	ATP7A	538	HP:0002017	Nausea and vomiting
ORPHA:565	ATP7A	538	HP:0012378	Fatigue
ORPHA:565	ATP7A	538	HP:0002376	Developmental regression
ORPHA:565	ATP7A	538	HP:0001537	Umbilical hernia
ORPHA:565	ATP7A	538	HP:0100777	Exostoses
ORPHA:565	ATP7A	538	HP:0008872	Feeding difficulties in infancy
ORPHA:565	ATP7A	538	HP:0000987	Atypical scarring of skin
ORPHA:565	ATP7A	538	HP:0005599	Hypopigmentation of hair
ORPHA:565	ATP7A	538	HP:0001324	Muscle weakness
ORPHA:565	ATP7A	538	HP:0000023	Inguinal hernia
ORPHA:565	ATP7A	538	HP:0000269	Prominent occiput
ORPHA:565	ATP7A	538	HP:0000767	Pectus excavatum
ORPHA:565	ATP7A	538	HP:0001252	Muscular hypotonia
ORPHA:565	ATP7A	538	HP:0100545	Arterial stenosis
ORPHA:565	ATP7A	538	HP:0000347	Micrognathia
ORPHA:565	ATP7A	538	HP:0001257	Spasticity
ORPHA:565	ATP7A	538	HP:0000974	Hyperextensible skin
ORPHA:565	ATP7A	538	HP:0002170	Intracranial hemorrhage
ORPHA:565	ATP7A	538	HP:0000293	Full cheeks
ORPHA:565	ATP7A	538	HP:0006579	Prolonged neonatal jaundice
ORPHA:565	ATP7A	538	HP:0002645	Wormian bones
ORPHA:565	ATP7A	538	HP:0000944	Abnormality of the metaphysis
ORPHA:565	ATP7A	538	HP:0002224	Woolly hair
ORPHA:565	ATP7A	538	HP:0002617	Dilatation
ORPHA:565	ATP7A	538	HP:0005692	Joint hyperflexibility
ORPHA:565	ATP7A	538	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:565	ATP7A	538	HP:0000958	Dry skin
ORPHA:565	ATP7A	538	HP:0005293	Venous insufficiency
OMIM:614152	DIABLO	56616	HP:0003676	Progressive
OMIM:614152	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:614152	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
ORPHA:261330	BCR	613	HP:0001802	Absent toenail
ORPHA:261330	BCR	613	HP:0004322	Short stature
ORPHA:261330	BCR	613	HP:0001263	Global developmental delay
ORPHA:261330	BCR	613	HP:0001622	Premature birth
ORPHA:261330	BCR	613	HP:0000363	Abnormality of earlobe
ORPHA:261330	BCR	613	HP:0000319	Smooth philtrum
ORPHA:261330	BCR	613	HP:0001817	Absent fingernail
ORPHA:261330	BCR	613	HP:0000307	Pointed chin
ORPHA:261330	BCR	613	HP:0001511	Intrauterine growth retardation
ORPHA:261330	BCR	613	HP:0002664	Neoplasm
ORPHA:261330	BCR	613	HP:0002553	Highly arched eyebrow
ORPHA:261330	BCR	613	HP:0000430	Underdeveloped nasal alae
ORPHA:261330	BCR	613	HP:0000252	Microcephaly
ORPHA:261330	BCR	613	HP:0002463	Language impairment
ORPHA:261330	BCR	613	HP:0001763	Pes planus
ORPHA:261330	BCR	613	HP:0000490	Deeply set eye
ORPHA:261330	BCR	613	HP:0001660	Truncus arteriosus
ORPHA:261330	BCR	613	HP:0000219	Thin upper lip vermilion
ORPHA:261330	BCR	613	HP:0004209	Clinodactyly of the 5th finger
ORPHA:261330	BCR	613	HP:0001249	Intellectual disability
ORPHA:261330	CRKL	1399	HP:0001802	Absent toenail
ORPHA:261330	CRKL	1399	HP:0004322	Short stature
ORPHA:261330	CRKL	1399	HP:0001263	Global developmental delay
ORPHA:261330	CRKL	1399	HP:0001622	Premature birth
ORPHA:261330	CRKL	1399	HP:0000363	Abnormality of earlobe
ORPHA:261330	CRKL	1399	HP:0000319	Smooth philtrum
ORPHA:261330	CRKL	1399	HP:0001817	Absent fingernail
ORPHA:261330	CRKL	1399	HP:0000307	Pointed chin
ORPHA:261330	CRKL	1399	HP:0001511	Intrauterine growth retardation
ORPHA:261330	CRKL	1399	HP:0002664	Neoplasm
ORPHA:261330	CRKL	1399	HP:0002553	Highly arched eyebrow
ORPHA:261330	CRKL	1399	HP:0000430	Underdeveloped nasal alae
ORPHA:261330	CRKL	1399	HP:0000252	Microcephaly
ORPHA:261330	CRKL	1399	HP:0002463	Language impairment
ORPHA:261330	CRKL	1399	HP:0001763	Pes planus
ORPHA:261330	CRKL	1399	HP:0000490	Deeply set eye
ORPHA:261330	CRKL	1399	HP:0001660	Truncus arteriosus
ORPHA:261330	CRKL	1399	HP:0000219	Thin upper lip vermilion
ORPHA:261330	CRKL	1399	HP:0004209	Clinodactyly of the 5th finger
ORPHA:261330	CRKL	1399	HP:0001249	Intellectual disability
ORPHA:261330	MAPK1	5594	HP:0001802	Absent toenail
ORPHA:261330	MAPK1	5594	HP:0004322	Short stature
ORPHA:261330	MAPK1	5594	HP:0001263	Global developmental delay
ORPHA:261330	MAPK1	5594	HP:0001622	Premature birth
ORPHA:261330	MAPK1	5594	HP:0000363	Abnormality of earlobe
ORPHA:261330	MAPK1	5594	HP:0000319	Smooth philtrum
ORPHA:261330	MAPK1	5594	HP:0001817	Absent fingernail
ORPHA:261330	MAPK1	5594	HP:0000307	Pointed chin
ORPHA:261330	MAPK1	5594	HP:0001511	Intrauterine growth retardation
ORPHA:261330	MAPK1	5594	HP:0002664	Neoplasm
ORPHA:261330	MAPK1	5594	HP:0002553	Highly arched eyebrow
ORPHA:261330	MAPK1	5594	HP:0000430	Underdeveloped nasal alae
ORPHA:261330	MAPK1	5594	HP:0000252	Microcephaly
ORPHA:261330	MAPK1	5594	HP:0002463	Language impairment
ORPHA:261330	MAPK1	5594	HP:0001763	Pes planus
ORPHA:261330	MAPK1	5594	HP:0000490	Deeply set eye
ORPHA:261330	MAPK1	5594	HP:0001660	Truncus arteriosus
ORPHA:261330	MAPK1	5594	HP:0000219	Thin upper lip vermilion
ORPHA:261330	MAPK1	5594	HP:0004209	Clinodactyly of the 5th finger
ORPHA:261330	MAPK1	5594	HP:0001249	Intellectual disability
ORPHA:2969	PTEN	5728	HP:0005293	Venous insufficiency
ORPHA:2969	PTEN	5728	HP:0100777	Exostoses
ORPHA:2969	PTEN	5728	HP:0009721	Shagreen patch
ORPHA:2969	PTEN	5728	HP:0000615	Abnormality of the pupil
ORPHA:2969	PTEN	5728	HP:0010807	Open bite
ORPHA:2969	PTEN	5728	HP:0000303	Mandibular prognathia
ORPHA:2969	PTEN	5728	HP:0001140	Epibulbar dermoid
ORPHA:2969	PTEN	5728	HP:0000518	Cataract
ORPHA:2969	PTEN	5728	HP:0100559	Lower limb asymmetry
ORPHA:2969	PTEN	5728	HP:0000545	Myopia
ORPHA:2969	PTEN	5728	HP:0001031	Subcutaneous lipoma
ORPHA:2969	PTEN	5728	HP:0010816	Epidermal nevus
ORPHA:2969	PTEN	5728	HP:0100774	Hyperostosis
ORPHA:2969	PTEN	5728	HP:0002816	Genu recurvatum
ORPHA:2969	PTEN	5728	HP:0001100	Heterochromia iridis
ORPHA:2969	PTEN	5728	HP:0001334	Communicating hydrocephalus
ORPHA:2969	PTEN	5728	HP:0000256	Macrocephaly
ORPHA:2969	PTEN	5728	HP:0000828	Abnormality of the parathyroid gland
ORPHA:2969	PTEN	5728	HP:0001249	Intellectual disability
ORPHA:2969	PTEN	5728	HP:0001028	Hemangioma
ORPHA:2969	PTEN	5728	HP:0000541	Retinal detachment
ORPHA:2969	PTEN	5728	HP:0007400	Irregular hyperpigmentation
OMIM:613270	ZEB1	6935	HP:0001131	Corneal dystrophy
ORPHA:521	BCR	613	HP:0001945	Fever
ORPHA:521	BCR	613	HP:0001744	Splenomegaly
ORPHA:521	BCR	613	HP:0001873	Thrombocytopenia
ORPHA:521	BCR	613	HP:0001974	Leukocytosis
ORPHA:521	BCR	613	HP:0012378	Fatigue
ORPHA:521	BCR	613	HP:0005547	Myeloproliferative disorder
ORPHA:521	BCR	613	HP:0001912	Abnormality of basophils
ORPHA:521	BCR	613	HP:0001894	Thrombocytosis
ORPHA:521	BCR	613	HP:0004396	Poor appetite
ORPHA:521	ABL1	25	HP:0001945	Fever
ORPHA:521	ABL1	25	HP:0001744	Splenomegaly
ORPHA:521	ABL1	25	HP:0001873	Thrombocytopenia
ORPHA:521	ABL1	25	HP:0001974	Leukocytosis
ORPHA:521	ABL1	25	HP:0012378	Fatigue
ORPHA:521	ABL1	25	HP:0005547	Myeloproliferative disorder
ORPHA:521	ABL1	25	HP:0001912	Abnormality of basophils
ORPHA:521	ABL1	25	HP:0001894	Thrombocytosis
ORPHA:521	ABL1	25	HP:0004396	Poor appetite
ORPHA:521	RUNX1	861	HP:0001945	Fever
ORPHA:521	RUNX1	861	HP:0001744	Splenomegaly
ORPHA:521	RUNX1	861	HP:0001873	Thrombocytopenia
ORPHA:521	RUNX1	861	HP:0001974	Leukocytosis
ORPHA:521	RUNX1	861	HP:0012378	Fatigue
ORPHA:521	RUNX1	861	HP:0005547	Myeloproliferative disorder
ORPHA:521	RUNX1	861	HP:0001912	Abnormality of basophils
ORPHA:521	RUNX1	861	HP:0001894	Thrombocytosis
ORPHA:521	RUNX1	861	HP:0004396	Poor appetite
OMIM:614066	AP4B1	10717	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614066	AP4B1	10717	HP:0003487	Babinski sign
OMIM:614066	AP4B1	10717	HP:0003577	Congenital onset
OMIM:614066	AP4B1	10717	HP:0001332	Dystonia
OMIM:614066	AP4B1	10717	HP:0002119	Ventriculomegaly
OMIM:614066	AP4B1	10717	HP:0001260	Dysarthria
OMIM:614066	AP4B1	10717	HP:0002518	Abnormality of the periventricular white matter
OMIM:614066	AP4B1	10717	HP:0008807	Acetabular dysplasia
OMIM:614066	AP4B1	10717	HP:0000341	Narrow forehead
OMIM:614066	AP4B1	10717	HP:0001258	Spastic paraplegia
OMIM:614066	AP4B1	10717	HP:0000280	Coarse facial features
OMIM:614066	AP4B1	10717	HP:0000252	Microcephaly
OMIM:614066	AP4B1	10717	HP:0000322	Short philtrum
OMIM:614066	AP4B1	10717	HP:0003677	Slow progression
OMIM:614066	AP4B1	10717	HP:0001371	Flexion contracture
OMIM:614066	AP4B1	10717	HP:0000154	Wide mouth
OMIM:614066	AP4B1	10717	HP:0002515	Waddling gait
OMIM:614066	AP4B1	10717	HP:0001250	Seizures
OMIM:614066	AP4B1	10717	HP:0001319	Neonatal hypotonia
OMIM:614066	AP4B1	10717	HP:0001347	Hyperreflexia
OMIM:614066	AP4B1	10717	HP:0010864	Intellectual disability, severe
OMIM:614066	AP4B1	10717	HP:0000750	Delayed speech and language development
OMIM:614066	AP4B1	10717	HP:0000414	Bulbous nose
OMIM:614066	AP4B1	10717	HP:0001263	Global developmental delay
OMIM:614066	AP4B1	10717	HP:0000007	Autosomal recessive inheritance
OMIM:613451	ALX4	60529	HP:0000316	Hypertelorism
OMIM:613451	ALX4	60529	HP:0000457	Depressed nasal ridge
OMIM:613451	ALX4	60529	HP:0000431	Wide nasal bridge
OMIM:613451	ALX4	60529	HP:0002084	Encephalocele
OMIM:613451	ALX4	60529	HP:0012745	Short palpebral fissure
OMIM:613451	ALX4	60529	HP:0000653	Sparse eyelashes
OMIM:613451	ALX4	60529	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613451	ALX4	60529	HP:0000007	Autosomal recessive inheritance
OMIM:613451	ALX4	60529	HP:0000582	Upslanted palpebral fissure
OMIM:613451	ALX4	60529	HP:0000252	Microcephaly
OMIM:613451	ALX4	60529	HP:0001320	Cerebellar vermis hypoplasia
OMIM:613451	ALX4	60529	HP:0001363	Craniosynostosis
OMIM:613451	ALX4	60529	HP:0002697	Parietal foramina
OMIM:613451	ALX4	60529	HP:0005280	Depressed nasal bridge
OMIM:613451	ALX4	60529	HP:0003828	Variable expressivity
OMIM:613451	ALX4	60529	HP:0000456	Bifid nasal tip
OMIM:613451	ALX4	60529	HP:0000535	Sparse and thin eyebrow
OMIM:609015	HADHA	3030	HP:0001985	Hypoketotic hypoglycemia
OMIM:609015	HADHA	3030	HP:0003326	Myalgia
OMIM:609015	HADHA	3030	HP:0001263	Global developmental delay
OMIM:609015	HADHA	3030	HP:0001508	Failure to thrive
OMIM:609015	HADHA	3030	HP:0003128	Lactic acidosis
OMIM:609015	HADHA	3030	HP:0002686	Prenatal maternal abnormality
OMIM:609015	HADHA	3030	HP:0001560	Abnormality of the amniotic fluid
OMIM:609015	HADHA	3030	HP:0001518	Small for gestational age
OMIM:609015	HADHA	3030	HP:0003324	Generalized muscle weakness
OMIM:609015	HADHA	3030	HP:0002910	Elevated hepatic transaminases
OMIM:609015	HADHA	3030	HP:0001789	Hydrops fetalis
OMIM:609015	HADHA	3030	HP:0002878	Respiratory failure
OMIM:609015	HADHA	3030	HP:0009830	Peripheral neuropathy
OMIM:609015	HADHA	3030	HP:0000007	Autosomal recessive inheritance
OMIM:609015	HADHA	3030	HP:0001644	Dilated cardiomyopathy
OMIM:609015	HADHA	3030	HP:0002913	Myoglobinuria
OMIM:609015	HADHA	3030	HP:0001635	Congestive heart failure
OMIM:609015	HADHA	3030	HP:0001987	Hyperammonemia
OMIM:609015	HADHA	3030	HP:0003201	Rhabdomyolysis
OMIM:609015	HADHA	3030	HP:0001290	Generalized hypotonia
OMIM:609015	HADHB	3032	HP:0001985	Hypoketotic hypoglycemia
OMIM:609015	HADHB	3032	HP:0003326	Myalgia
OMIM:609015	HADHB	3032	HP:0001263	Global developmental delay
OMIM:609015	HADHB	3032	HP:0001508	Failure to thrive
OMIM:609015	HADHB	3032	HP:0003128	Lactic acidosis
OMIM:609015	HADHB	3032	HP:0002686	Prenatal maternal abnormality
OMIM:609015	HADHB	3032	HP:0001560	Abnormality of the amniotic fluid
OMIM:609015	HADHB	3032	HP:0001518	Small for gestational age
OMIM:609015	HADHB	3032	HP:0003324	Generalized muscle weakness
OMIM:609015	HADHB	3032	HP:0002910	Elevated hepatic transaminases
OMIM:609015	HADHB	3032	HP:0001789	Hydrops fetalis
OMIM:609015	HADHB	3032	HP:0002878	Respiratory failure
OMIM:609015	HADHB	3032	HP:0009830	Peripheral neuropathy
OMIM:609015	HADHB	3032	HP:0000007	Autosomal recessive inheritance
OMIM:609015	HADHB	3032	HP:0001644	Dilated cardiomyopathy
OMIM:609015	HADHB	3032	HP:0002913	Myoglobinuria
OMIM:609015	HADHB	3032	HP:0001635	Congestive heart failure
OMIM:609015	HADHB	3032	HP:0001987	Hyperammonemia
OMIM:609015	HADHB	3032	HP:0003201	Rhabdomyolysis
OMIM:609015	HADHB	3032	HP:0001290	Generalized hypotonia
OMIM:613105	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:613105	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613105	PRPH2	5961	HP:0000613	Photophobia
ORPHA:226316	DUOX2	50506	HP:0012560	Decreased T3/T4 ratio
ORPHA:226316	DUOX2	50506	HP:0000851	Congenital hypothyroidism
ORPHA:226316	DUOX2	50506	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:300958	DDX3X	1654	HP:0001290	Generalized hypotonia
OMIM:300958	DDX3X	1654	HP:0003593	Infantile onset
OMIM:300958	DDX3X	1654	HP:0001249	Intellectual disability
OMIM:300958	DDX3X	1654	HP:0001419	X-linked recessive inheritance
OMIM:300958	DDX3X	1654	HP:0001423	X-linked dominant inheritance
OMIM:616227	ALG14	199857	HP:0000007	Autosomal recessive inheritance
OMIM:616227	ALG14	199857	HP:0002359	Frequent falls
OMIM:604559	TRPM4	54795	HP:0005165	Shortened PR interval
OMIM:604559	TRPM4	54795	HP:0011711	Left anterior fascicular block
OMIM:604559	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:604559	TRPM4	54795	HP:0001662	Bradycardia
OMIM:604559	TRPM4	54795	HP:0001657	Prolonged QT interval
OMIM:604559	TRPM4	54795	HP:0001279	Syncope
OMIM:614945	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614945	OTOG	340990	HP:0000365	Hearing impairment
ORPHA:2753	TCTN3	26123	HP:0000252	Microcephaly
ORPHA:2753	TCTN3	26123	HP:0002983	Micromelia
ORPHA:2753	TCTN3	26123	HP:0000157	Abnormality of the tongue
ORPHA:2753	TCTN3	26123	HP:0000176	Submucous cleft hard palate
ORPHA:2753	TCTN3	26123	HP:0001373	Joint dislocation
ORPHA:2753	TCTN3	26123	HP:0003510	Severe short stature
ORPHA:2753	TCTN3	26123	HP:0001177	Preaxial hand polydactyly
ORPHA:2753	TCTN3	26123	HP:0100490	Camptodactyly of finger
ORPHA:2753	TCTN3	26123	HP:0000358	Posteriorly rotated ears
ORPHA:2753	TCTN3	26123	HP:0000316	Hypertelorism
ORPHA:2753	TCTN3	26123	HP:0002705	High, narrow palate
ORPHA:2753	TCTN3	26123	HP:0000457	Depressed nasal ridge
ORPHA:2753	TCTN3	26123	HP:0001328	Specific learning disability
ORPHA:2753	TCTN3	26123	HP:0005772	Aplasia/Hypoplasia of the tibia
ORPHA:2753	TCTN3	26123	HP:0010566	Hamartoma
ORPHA:2753	TCTN3	26123	HP:0001562	Oligohydramnios
ORPHA:2753	TCTN3	26123	HP:0001171	Split hand
ORPHA:2753	TCTN3	26123	HP:0000168	Abnormality of the gingiva
ORPHA:2753	TCTN3	26123	HP:0000190	Abnormality of oral frenula
ORPHA:2753	TCTN3	26123	HP:0030868	Monorchism
ORPHA:2753	TCTN3	26123	HP:0000496	Abnormality of eye movement
ORPHA:2753	TCTN3	26123	HP:0000369	Low-set ears
ORPHA:2753	TCTN3	26123	HP:0002970	Genu varum
ORPHA:2753	TCTN3	26123	HP:0011968	Feeding difficulties
ORPHA:2753	TCTN3	26123	HP:0000405	Conductive hearing impairment
ORPHA:2753	TCTN3	26123	HP:0001508	Failure to thrive
ORPHA:2753	TCTN3	26123	HP:0000161	Median cleft lip
ORPHA:2753	TCTN3	26123	HP:0001601	Laryngomalacia
ORPHA:2753	TCTN3	26123	HP:0001263	Global developmental delay
ORPHA:2753	TCTN3	26123	HP:0100308	Cerebral cortical hemiatrophy
ORPHA:2753	TCTN3	26123	HP:0010285	Oral synechia
ORPHA:2753	TCTN3	26123	HP:0010469	Absent testis
ORPHA:2753	TCTN3	26123	HP:0001511	Intrauterine growth retardation
ORPHA:2753	TCTN3	26123	HP:0006101	Finger syndactyly
ORPHA:2753	TCTN3	26123	HP:0008734	Decreased testicular size
ORPHA:2753	TCTN3	26123	HP:0003196	Short nose
ORPHA:2753	TCTN3	26123	HP:0000278	Retrognathia
ORPHA:2753	TCTN3	26123	HP:0012157	Subcortical cerebral atrophy
ORPHA:2753	TCTN3	26123	HP:0000193	Bifid uvula
ORPHA:2753	TCTN3	26123	HP:0000347	Micrognathia
ORPHA:2753	TCTN3	26123	HP:0000520	Proptosis
ORPHA:2753	TCTN3	26123	HP:0001162	Postaxial hand polydactyly
ORPHA:2753	TCTN3	26123	HP:0000453	Choanal atresia
ORPHA:2753	TCTN3	26123	HP:0001249	Intellectual disability
ORPHA:2753	TCTN3	26123	HP:0000445	Wide nose
ORPHA:2753	TCTN3	26123	HP:0002205	Recurrent respiratory infections
ORPHA:2753	TCTN3	26123	HP:0011267	Microtia, third degree
OMIM:613485	KCNJ5	3762	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:613485	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNJ5	3762	HP:0001635	Congestive heart failure
OMIM:613485	KCNJ5	3762	HP:0001695	Cardiac arrest
OMIM:613485	KCNJ5	3762	HP:0002204	Pulmonary embolism
OMIM:613485	KCNJ5	3762	HP:0000822	Hypertension
OMIM:613485	KCNJ5	3762	HP:0001279	Syncope
OMIM:613485	KCNJ5	3762	HP:0001678	Atrioventricular block
OMIM:613485	KCNJ5	3762	HP:0001677	Coronary artery disease
ORPHA:223	AQP2	359	HP:0004906	Hypernatremic dehydration
ORPHA:223	AQP2	359	HP:0001508	Failure to thrive
ORPHA:223	AQP2	359	HP:0002019	Constipation
ORPHA:223	AQP2	359	HP:0002039	Anorexia
ORPHA:223	AQP2	359	HP:0001945	Fever
ORPHA:223	AQP2	359	HP:0003158	Hyposthenuria
ORPHA:223	AQP2	359	HP:0001959	Polydipsia
ORPHA:223	AQP2	359	HP:0002017	Nausea and vomiting
ORPHA:223	AQP2	359	HP:0003228	Hypernatremia
ORPHA:223	AQP2	359	HP:0009806	Nephrogenic diabetes insipidus
ORPHA:223	AVPR2	554	HP:0004906	Hypernatremic dehydration
ORPHA:223	AVPR2	554	HP:0001508	Failure to thrive
ORPHA:223	AVPR2	554	HP:0002019	Constipation
ORPHA:223	AVPR2	554	HP:0002039	Anorexia
ORPHA:223	AVPR2	554	HP:0001945	Fever
ORPHA:223	AVPR2	554	HP:0003158	Hyposthenuria
ORPHA:223	AVPR2	554	HP:0001959	Polydipsia
ORPHA:223	AVPR2	554	HP:0002017	Nausea and vomiting
ORPHA:223	AVPR2	554	HP:0003228	Hypernatremia
ORPHA:223	AVPR2	554	HP:0009806	Nephrogenic diabetes insipidus
OMIM:160565	STIM1	6786	HP:0003738	Exercise-induced myalgia
OMIM:160565	STIM1	6786	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160565	STIM1	6786	HP:0003557	Increased variability in muscle fiber diameter
OMIM:160565	STIM1	6786	HP:0000006	Autosomal dominant inheritance
OMIM:160565	STIM1	6786	HP:0003581	Adult onset
OMIM:160565	STIM1	6786	HP:0003677	Slow progression
OMIM:160565	STIM1	6786	HP:0003701	Proximal muscle weakness
OMIM:160565	STIM1	6786	HP:0002600	Hyporeflexia of lower limbs
OMIM:160565	STIM1	6786	HP:0003388	Easy fatigability
OMIM:160565	STIM1	6786	HP:0003554	Type 2 muscle fiber atrophy
OMIM:160565	STIM1	6786	HP:0003198	Myopathy
OMIM:160565	STIM1	6786	HP:0009005	Weakness of the intrinsic hand muscles
OMIM:160565	STIM1	6786	HP:0002359	Frequent falls
OMIM:160565	STIM1	6786	HP:0003394	Muscle cramps
OMIM:160565	STIM1	6786	HP:0007126	Proximal amyotrophy
OMIM:160565	STIM1	6786	HP:0002522	Areflexia of lower limbs
OMIM:160565	STIM1	6786	HP:0009046	Difficulty running
OMIM:160565	STIM1	6786	HP:0003552	Muscle stiffness
ORPHA:393	SRY	6736	HP:0008734	Decreased testicular size
ORPHA:393	SRY	6736	HP:0000026	Male hypogonadism
ORPHA:393	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:393	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHA:393	SOX3	6658	HP:0008734	Decreased testicular size
ORPHA:393	SOX3	6658	HP:0000026	Male hypogonadism
ORPHA:393	SOX3	6658	HP:0000147	Polycystic ovaries
ORPHA:393	SOX3	6658	HP:0000062	Ambiguous genitalia
ORPHA:393	NR5A1	2516	HP:0008734	Decreased testicular size
ORPHA:393	NR5A1	2516	HP:0000026	Male hypogonadism
ORPHA:393	NR5A1	2516	HP:0000147	Polycystic ovaries
ORPHA:393	NR5A1	2516	HP:0000062	Ambiguous genitalia
ORPHA:393	SOX9	6662	HP:0008734	Decreased testicular size
ORPHA:393	SOX9	6662	HP:0000026	Male hypogonadism
ORPHA:393	SOX9	6662	HP:0000147	Polycystic ovaries
ORPHA:393	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHA:1497	L1CAM	3897	HP:0001257	Spasticity
ORPHA:1497	L1CAM	3897	HP:0001321	Cerebellar hypoplasia
ORPHA:1497	L1CAM	3897	HP:0001250	Seizures
ORPHA:1497	L1CAM	3897	HP:0001249	Intellectual disability
ORPHA:1497	L1CAM	3897	HP:0001324	Muscle weakness
ORPHA:1497	L1CAM	3897	HP:0000252	Microcephaly
OMIM:615561	CFB	629	HP:0002586	Peritonitis
OMIM:615561	CFB	629	HP:0002090	Pneumonia
OMIM:615561	CFB	629	HP:0005416	Decreased serum complement factor B
OMIM:615561	CFB	629	HP:0005381	Recurrent meningococcal disease
OMIM:605407	TH	7054	HP:0001270	Motor delay
OMIM:605407	TH	7054	HP:0001300	Parkinsonism
OMIM:605407	TH	7054	HP:0008936	Muscular hypotonia of the trunk
OMIM:605407	TH	7054	HP:0000298	Mask-like facies
OMIM:605407	TH	7054	HP:0000750	Delayed speech and language development
OMIM:605407	TH	7054	HP:0000508	Ptosis
OMIM:605407	TH	7054	HP:0002375	Hypokinesia
OMIM:605407	TH	7054	HP:0002066	Gait ataxia
OMIM:605407	TH	7054	HP:0003828	Variable expressivity
OMIM:605407	TH	7054	HP:0001337	Tremor
OMIM:605407	TH	7054	HP:0000007	Autosomal recessive inheritance
OMIM:605407	TH	7054	HP:0003785	Decreased CSF homovanillic acid
OMIM:605407	TH	7054	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
OMIM:605407	TH	7054	HP:0002451	Limb dystonia
OMIM:605407	TH	7054	HP:0003593	Infantile onset
OMIM:605407	TH	7054	HP:0002063	Rigidity
ORPHA:99735	SCN4A	6329	HP:0002486	Myotonia
ORPHA:99735	SCN4A	6329	HP:0003457	EMG abnormality
ORPHA:99735	SCN4A	6329	HP:0001276	Hypertonia
ORPHA:99735	SCN4A	6329	HP:0003394	Muscle cramps
OMIM:245348	DLAT	1737	HP:0000639	Nystagmus
OMIM:245348	DLAT	1737	HP:0002465	Poor speech
OMIM:245348	DLAT	1737	HP:0001266	Choreoathetosis
OMIM:245348	DLAT	1737	HP:0002268	Paroxysmal dystonia
OMIM:245348	DLAT	1737	HP:0002194	Delayed gross motor development
OMIM:245348	DLAT	1737	HP:0006961	Jerky head movements
OMIM:245348	DLAT	1737	HP:0001319	Neonatal hypotonia
OMIM:245348	DLAT	1737	HP:0000657	Oculomotor apraxia
OMIM:245348	DLAT	1737	HP:0003593	Infantile onset
OMIM:245348	DLAT	1737	HP:0000252	Microcephaly
OMIM:245348	DLAT	1737	HP:0002307	Drooling
OMIM:245348	DLAT	1737	HP:0000508	Ptosis
OMIM:245348	DLAT	1737	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
OMIM:245348	DLAT	1737	HP:0000007	Autosomal recessive inheritance
OMIM:245348	DLAT	1737	HP:0003128	Lactic acidosis
OMIM:245348	DLAT	1737	HP:0001251	Ataxia
OMIM:245348	DLAT	1737	HP:0001256	Intellectual disability, mild
OMIM:245348	DLAT	1737	HP:0001347	Hyperreflexia
OMIM:245348	DLAT	1737	HP:0040284	Very rare
OMIM:245348	DLAT	1737	HP:0001263	Global developmental delay
OMIM:602398	DHCR24	1718	HP:0000486	Strabismus
OMIM:602398	DHCR24	1718	HP:0000238	Hydrocephalus
OMIM:602398	DHCR24	1718	HP:0000463	Anteverted nares
OMIM:602398	DHCR24	1718	HP:0001250	Seizures
OMIM:602398	DHCR24	1718	HP:0002804	Arthrogryposis multiplex congenita
OMIM:602398	DHCR24	1718	HP:0003812	Phenotypic variability
OMIM:602398	DHCR24	1718	HP:0000639	Nystagmus
OMIM:602398	DHCR24	1718	HP:0003196	Short nose
OMIM:602398	DHCR24	1718	HP:0001508	Failure to thrive
OMIM:602398	DHCR24	1718	HP:0002119	Ventriculomegaly
OMIM:602398	DHCR24	1718	HP:0001257	Spasticity
OMIM:602398	DHCR24	1718	HP:0001338	Partial agenesis of the corpus callosum
OMIM:602398	DHCR24	1718	HP:0004482	Relative macrocephaly
OMIM:602398	DHCR24	1718	HP:0000007	Autosomal recessive inheritance
OMIM:266900	NPHP1	4867	HP:0001425	Heterogeneous
OMIM:266900	NPHP1	4867	HP:0001903	Anemia
OMIM:266900	NPHP1	4867	HP:0001959	Polydipsia
OMIM:266900	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:266900	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:266900	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	NPHP1	4867	HP:0000103	Polyuria
OMIM:266900	NPHP1	4867	HP:0000547	Tapetoretinal degeneration
OMIM:241600	B2M	567	HP:0000007	Autosomal recessive inheritance
OMIM:241600	B2M	567	HP:0002986	Radial bowing
OMIM:241600	B2M	567	HP:0003075	Hypoproteinemia
OMIM:241600	B2M	567	HP:0003022	Hypoplasia of the ulna
OMIM:241600	B2M	567	HP:0004315	IgG deficiency
OMIM:241600	B2M	567	HP:0003828	Variable expressivity
OMIM:241600	B2M	567	HP:0003073	Hypoalbuminemia
OMIM:241600	B2M	567	HP:0002110	Bronchiectasis
OMIM:241600	B2M	567	HP:0002205	Recurrent respiratory infections
ORPHA:31	OGDH	4967	HP:0001276	Hypertonia
ORPHA:31	OGDH	4967	HP:0010286	Abnormal salivary gland morphology
ORPHA:31	OGDH	4967	HP:0012401	Abnormal urine alpha-ketoglutarate concentration
ORPHA:31	OGDH	4967	HP:0000238	Hydrocephalus
ORPHA:31	OGDH	4967	HP:0000816	Abnormality of Krebs cycle metabolism
ORPHA:31	OGDH	4967	HP:0100022	Abnormality of movement
ORPHA:31	OGDH	4967	HP:0001263	Global developmental delay
ORPHA:31	OGDH	4967	HP:0003202	Skeletal muscle atrophy
ORPHA:31	OGDH	4967	HP:0001251	Ataxia
ORPHA:31	OGDH	4967	HP:0004322	Short stature
OMIM:606408	TNXB	7148	HP:0000007	Autosomal recessive inheritance
OMIM:606408	TNXB	7148	HP:0001382	Joint hypermobility
OMIM:606408	TNXB	7148	HP:0000061	Ambiguous genitalia, female
OMIM:606408	TNXB	7148	HP:0000978	Bruising susceptibility
OMIM:606408	TNXB	7148	HP:0000977	Soft skin
OMIM:606408	TNXB	7148	HP:0000974	Hyperextensible skin
OMIM:606408	TNXB	7148	HP:0002036	Hiatus hernia
OMIM:606408	TNXB	7148	HP:0001634	Mitral valve prolapse
OMIM:606408	TNXB	7148	HP:0002829	Arthralgia
OMIM:606408	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:606408	TNXB	7148	HP:0000813	Bicornuate uterus
ORPHA:871	SCN1B	6324	HP:0011675	Arrhythmia
ORPHA:871	NKX2-5	1482	HP:0011675	Arrhythmia
ORPHA:871	SCN5A	6331	HP:0011675	Arrhythmia
ORPHA:871	TRPM4	54795	HP:0011675	Arrhythmia
OMIM:602342	TBL1XR1	79718	HP:0003196	Short nose
OMIM:602342	TBL1XR1	79718	HP:0000470	Short neck
OMIM:602342	TBL1XR1	79718	HP:0000759	Abnormal peripheral nervous system morphology
OMIM:602342	TBL1XR1	79718	HP:0011341	Long upper lip
OMIM:602342	TBL1XR1	79718	HP:0000006	Autosomal dominant inheritance
OMIM:602342	TBL1XR1	79718	HP:0009890	High anterior hairline
OMIM:602342	TBL1XR1	79718	HP:0000293	Full cheeks
OMIM:602342	TBL1XR1	79718	HP:0001169	Broad palm
OMIM:602342	TBL1XR1	79718	HP:0002265	Large fleshy ears
OMIM:602342	TBL1XR1	79718	HP:0000272	Malar flattening
OMIM:602342	TBL1XR1	79718	HP:0001773	Short foot
OMIM:602342	TBL1XR1	79718	HP:0006610	Wide intermamillary distance
OMIM:602342	TBL1XR1	79718	HP:0000687	Widely spaced teeth
OMIM:602342	TBL1XR1	79718	HP:0000283	Broad face
OMIM:602342	TBL1XR1	79718	HP:0000252	Microcephaly
OMIM:602342	TBL1XR1	79718	HP:0004322	Short stature
OMIM:602342	TBL1XR1	79718	HP:0000348	High forehead
OMIM:602342	TBL1XR1	79718	HP:0000506	Telecanthus
OMIM:602342	TBL1XR1	79718	HP:0001769	Broad foot
OMIM:602342	TBL1XR1	79718	HP:0000445	Wide nose
OMIM:602342	TBL1XR1	79718	HP:0011800	Midface retrusion
OMIM:602342	TBL1XR1	79718	HP:0006191	Deep palmar crease
OMIM:602342	TBL1XR1	79718	HP:0000319	Smooth philtrum
OMIM:602342	TBL1XR1	79718	HP:0000248	Brachycephaly
OMIM:602342	TBL1XR1	79718	HP:0007946	Unilateral narrow palpebral fissure
OMIM:602342	TBL1XR1	79718	HP:0000490	Deeply set eye
OMIM:602342	TBL1XR1	79718	HP:0100853	Hypoplastic areola
OMIM:602342	TBL1XR1	79718	HP:0000750	Delayed speech and language development
OMIM:602342	TBL1XR1	79718	HP:0000358	Posteriorly rotated ears
OMIM:602342	TBL1XR1	79718	HP:0000232	Everted lower lip vermilion
OMIM:602342	TBL1XR1	79718	HP:0001263	Global developmental delay
OMIM:602342	TBL1XR1	79718	HP:0004279	Short palm
OMIM:602342	TBL1XR1	79718	HP:0000316	Hypertelorism
OMIM:602342	TBL1XR1	79718	HP:0001869	Deep plantar creases
OMIM:602342	TBL1XR1	79718	HP:0000289	Broad philtrum
ORPHA:1359	PRKAR1A	5573	HP:0100814	Blue nevus
ORPHA:1359	PRKAR1A	5573	HP:0001003	Multiple lentigines
ORPHA:1359	PRKAR1A	5573	HP:0001007	Hirsutism
ORPHA:1359	PRKAR1A	5573	HP:0009588	Vestibular Schwannoma
ORPHA:1359	PRKAR1A	5573	HP:0011672	Cardiac myxoma
ORPHA:1359	PRKAR1A	5573	HP:0005587	Profuse pigmented skin lesions
ORPHA:1359	PRKAR1A	5573	HP:0008225	Thyroid follicular hyperplasia
ORPHA:1359	PRKAR1A	5573	HP:0001580	Pigmented micronodular adrenocortical disease
ORPHA:1359	PRKAR1A	5573	HP:0012030	Increased urinary cortisol level
ORPHA:1359	PRKAR1A	5573	HP:0000845	Growth hormone excess
ORPHA:1359	PRKAR1A	5573	HP:0009593	Peripheral Schwannoma
ORPHA:1359	PRKAR1A	5573	HP:0040086	Abnormal prolactin level
ORPHA:1359	PRKAR1A	5573	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:1359	PRKAR1A	5573	HP:0000854	Thyroid adenoma
ORPHA:1359	PRKAR1A	5573	HP:0003118	Increased circulating cortisol level
ORPHA:1359	PRKAR1A	5573	HP:0008675	Enlarged polycystic ovaries
ORPHA:1359	PRKAR1A	5573	HP:0011043	Abnormality of circulating adrenocorticotropin level
ORPHA:1540	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:1540	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:1540	FGFR2	2263	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:1540	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
ORPHA:1540	FGFR2	2263	HP:0000262	Turricephaly
ORPHA:1540	FGFR2	2263	HP:0000508	Ptosis
ORPHA:1540	FGFR2	2263	HP:0002007	Frontal bossing
ORPHA:1540	FGFR2	2263	HP:0000174	Abnormality of the palate
ORPHA:1540	FGFR2	2263	HP:0000486	Strabismus
ORPHA:1540	FGFR2	2263	HP:0000520	Proptosis
ORPHA:1540	FGFR2	2263	HP:0000303	Mandibular prognathia
ORPHA:1540	FGFR2	2263	HP:0010743	Short metatarsal
ORPHA:1540	FGFR2	2263	HP:0010059	Broad hallux phalanx
ORPHA:1540	FGFR2	2263	HP:0000444	Convex nasal ridge
ORPHA:1540	FGFR2	2263	HP:0001783	Broad metatarsal
OMIM:600060	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MYO7A	4647	HP:0003577	Congenital onset
OMIM:600060	MYO7A	4647	HP:0002321	Vertigo
OMIM:300699	GRIA3	2892	HP:0001249	Intellectual disability
OMIM:300699	GRIA3	2892	HP:0000718	Aggressive behavior
OMIM:300699	GRIA3	2892	HP:0000248	Brachycephaly
OMIM:300699	GRIA3	2892	HP:0000336	Prominent supraorbital ridges
OMIM:300699	GRIA3	2892	HP:0001419	X-linked recessive inheritance
OMIM:300699	GRIA3	2892	HP:0010864	Intellectual disability, severe
OMIM:300699	GRIA3	2892	HP:0000490	Deeply set eye
OMIM:300699	GRIA3	2892	HP:0004322	Short stature
OMIM:613790	C8A	731	HP:0001287	Meningitis
OMIM:613790	C8A	731	HP:0004434	C8 deficiency
OMIM:613790	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C8A	731	HP:0002725	Systemic lupus erythematosus
OMIM:172700	MAPT	4137	HP:0000751	Personality changes
OMIM:172700	MAPT	4137	HP:0002463	Language impairment
OMIM:172700	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:172700	MAPT	4137	HP:0000748	Inappropriate laughter
OMIM:172700	MAPT	4137	HP:0000733	Stereotypy
OMIM:172700	MAPT	4137	HP:0002145	Frontotemporal dementia
OMIM:172700	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:172700	MAPT	4137	HP:0003745	Sporadic
OMIM:172700	MAPT	4137	HP:0030213	Emotional blunting
OMIM:172700	MAPT	4137	HP:0000737	Irritability
OMIM:172700	MAPT	4137	HP:0030223	Perseveration
OMIM:172700	MAPT	4137	HP:0010529	Echolalia
OMIM:172700	MAPT	4137	HP:0002476	Primitive reflex
OMIM:172700	MAPT	4137	HP:0000741	Apathy
OMIM:172700	MAPT	4137	HP:0000710	Hyperorality
OMIM:172700	MAPT	4137	HP:0000734	Disinhibition
OMIM:172700	MAPT	4137	HP:0002171	Gliosis
OMIM:172700	MAPT	4137	HP:0002591	Polyphagia
OMIM:172700	PSEN1	5663	HP:0000751	Personality changes
OMIM:172700	PSEN1	5663	HP:0002463	Language impairment
OMIM:172700	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:172700	PSEN1	5663	HP:0000748	Inappropriate laughter
OMIM:172700	PSEN1	5663	HP:0000733	Stereotypy
OMIM:172700	PSEN1	5663	HP:0002145	Frontotemporal dementia
OMIM:172700	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:172700	PSEN1	5663	HP:0003745	Sporadic
OMIM:172700	PSEN1	5663	HP:0030213	Emotional blunting
OMIM:172700	PSEN1	5663	HP:0000737	Irritability
OMIM:172700	PSEN1	5663	HP:0030223	Perseveration
OMIM:172700	PSEN1	5663	HP:0010529	Echolalia
OMIM:172700	PSEN1	5663	HP:0002476	Primitive reflex
OMIM:172700	PSEN1	5663	HP:0000741	Apathy
OMIM:172700	PSEN1	5663	HP:0000710	Hyperorality
OMIM:172700	PSEN1	5663	HP:0000734	Disinhibition
OMIM:172700	PSEN1	5663	HP:0002171	Gliosis
OMIM:172700	PSEN1	5663	HP:0002591	Polyphagia
ORPHA:90	ARG1	383	HP:0008339	Diaminoaciduria
ORPHA:90	ARG1	383	HP:0000708	Behavioral abnormality
ORPHA:90	ARG1	383	HP:0001987	Hyperammonemia
ORPHA:90	ARG1	383	HP:0001250	Seizures
ORPHA:90	ARG1	383	HP:0002167	Neurological speech impairment
ORPHA:90	ARG1	383	HP:0010864	Intellectual disability, severe
ORPHA:90	ARG1	383	HP:0004374	Hemiplegia/hemiparesis
ORPHA:90	ARG1	383	HP:0002353	EEG abnormality
ORPHA:90	ARG1	383	HP:0001263	Global developmental delay
ORPHA:90	ARG1	383	HP:0002478	Progressive spastic quadriplegia
ORPHA:69735	SOX18	54345	HP:0002223	Absent eyebrow
ORPHA:69735	SOX18	54345	HP:0003550	Predominantly lower limb lymphedema
ORPHA:69735	SOX18	54345	HP:0001596	Alopecia
ORPHA:69735	SOX18	54345	HP:0100869	Palmar telangiectasia
ORPHA:69735	SOX18	54345	HP:0000034	Hydrocele testis
ORPHA:69735	SOX18	54345	HP:0000965	Cutis marmorata
ORPHA:69735	SOX18	54345	HP:0100540	Palpebral edema
ORPHA:69735	SOX18	54345	HP:0100763	Abnormality of the lymphatic system
ORPHA:69735	SOX18	54345	HP:0002209	Sparse scalp hair
ORPHA:69735	SOX18	54345	HP:0000561	Absent eyelashes
ORPHA:69735	SOX18	54345	HP:0002231	Sparse body hair
ORPHA:69735	SOX18	54345	HP:0100870	Plantar telangiectasia
OMIM:613809	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613809	USH2A	7399	HP:0000505	Visual impairment
OMIM:613809	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	USH2A	7399	HP:0001123	Visual field defect
OMIM:613809	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613809	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:169100	TFAP2B	7021	HP:0001263	Global developmental delay
OMIM:169100	TFAP2B	7021	HP:0000411	Protruding ear
OMIM:169100	TFAP2B	7021	HP:0025234	Parasomnia
OMIM:169100	TFAP2B	7021	HP:0002553	Highly arched eyebrow
OMIM:169100	TFAP2B	7021	HP:0004209	Clinodactyly of the 5th finger
OMIM:169100	TFAP2B	7021	HP:0000486	Strabismus
OMIM:169100	TFAP2B	7021	HP:0001256	Intellectual disability, mild
OMIM:169100	TFAP2B	7021	HP:0009244	Distal/middle symphalangism of 5th finger
OMIM:169100	TFAP2B	7021	HP:0000337	Broad forehead
OMIM:169100	TFAP2B	7021	HP:0000006	Autosomal dominant inheritance
OMIM:169100	TFAP2B	7021	HP:0000207	Triangular mouth
OMIM:169100	TFAP2B	7021	HP:0000455	Broad nasal tip
OMIM:169100	TFAP2B	7021	HP:0000316	Hypertelorism
OMIM:169100	TFAP2B	7021	HP:0000369	Low-set ears
OMIM:169100	TFAP2B	7021	HP:0000574	Thick eyebrow
OMIM:169100	TFAP2B	7021	HP:0000322	Short philtrum
OMIM:169100	TFAP2B	7021	HP:0001643	Patent ductus arteriosus
OMIM:169100	TFAP2B	7021	HP:0000508	Ptosis
OMIM:614171	BLOC1S6	26258	HP:0001107	Ocular albinism
OMIM:614171	BLOC1S6	26258	HP:0001882	Leukopenia
OMIM:614171	BLOC1S6	26258	HP:0007894	Hypopigmentation of the fundus
OMIM:614171	BLOC1S6	26258	HP:0001010	Hypopigmentation of the skin
OMIM:614171	BLOC1S6	26258	HP:0006934	Congenital nystagmus
OMIM:614171	BLOC1S6	26258	HP:0000639	Nystagmus
OMIM:614171	BLOC1S6	26258	HP:0000007	Autosomal recessive inheritance
OMIM:614171	BLOC1S6	26258	HP:0001873	Thrombocytopenia
ORPHA:2311	MESP2	145873	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2311	MESP2	145873	HP:0002808	Kyphosis
ORPHA:2311	MESP2	145873	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2311	MESP2	145873	HP:0000902	Rib fusion
ORPHA:2311	MESP2	145873	HP:0000470	Short neck
ORPHA:2311	MESP2	145873	HP:0004322	Short stature
ORPHA:2311	MESP2	145873	HP:0010306	Short thorax
ORPHA:2311	MESP2	145873	HP:0002093	Respiratory insufficiency
ORPHA:2311	MESP2	145873	HP:0003422	Vertebral segmentation defect
ORPHA:2311	MESP2	145873	HP:0006655	Rib segmentation abnormalities
ORPHA:2311	MESP2	145873	HP:0010978	Abnormality of immune system physiology
ORPHA:2311	MESP2	145873	HP:0002650	Scoliosis
ORPHA:2311	MESP2	145873	HP:0001511	Intrauterine growth retardation
ORPHA:2311	LFNG	3955	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2311	LFNG	3955	HP:0002808	Kyphosis
ORPHA:2311	LFNG	3955	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2311	LFNG	3955	HP:0000902	Rib fusion
ORPHA:2311	LFNG	3955	HP:0000470	Short neck
ORPHA:2311	LFNG	3955	HP:0004322	Short stature
ORPHA:2311	LFNG	3955	HP:0010306	Short thorax
ORPHA:2311	LFNG	3955	HP:0002093	Respiratory insufficiency
ORPHA:2311	LFNG	3955	HP:0003422	Vertebral segmentation defect
ORPHA:2311	LFNG	3955	HP:0006655	Rib segmentation abnormalities
ORPHA:2311	LFNG	3955	HP:0010978	Abnormality of immune system physiology
ORPHA:2311	LFNG	3955	HP:0002650	Scoliosis
ORPHA:2311	LFNG	3955	HP:0001511	Intrauterine growth retardation
ORPHA:2311	HES7	84667	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2311	HES7	84667	HP:0002808	Kyphosis
ORPHA:2311	HES7	84667	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2311	HES7	84667	HP:0000902	Rib fusion
ORPHA:2311	HES7	84667	HP:0000470	Short neck
ORPHA:2311	HES7	84667	HP:0004322	Short stature
ORPHA:2311	HES7	84667	HP:0010306	Short thorax
ORPHA:2311	HES7	84667	HP:0002093	Respiratory insufficiency
ORPHA:2311	HES7	84667	HP:0003422	Vertebral segmentation defect
ORPHA:2311	HES7	84667	HP:0006655	Rib segmentation abnormalities
ORPHA:2311	HES7	84667	HP:0010978	Abnormality of immune system physiology
ORPHA:2311	HES7	84667	HP:0002650	Scoliosis
ORPHA:2311	HES7	84667	HP:0001511	Intrauterine growth retardation
ORPHA:2311	DLL3	10683	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2311	DLL3	10683	HP:0002808	Kyphosis
ORPHA:2311	DLL3	10683	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2311	DLL3	10683	HP:0000902	Rib fusion
ORPHA:2311	DLL3	10683	HP:0000470	Short neck
ORPHA:2311	DLL3	10683	HP:0004322	Short stature
ORPHA:2311	DLL3	10683	HP:0010306	Short thorax
ORPHA:2311	DLL3	10683	HP:0002093	Respiratory insufficiency
ORPHA:2311	DLL3	10683	HP:0003422	Vertebral segmentation defect
ORPHA:2311	DLL3	10683	HP:0006655	Rib segmentation abnormalities
ORPHA:2311	DLL3	10683	HP:0010978	Abnormality of immune system physiology
ORPHA:2311	DLL3	10683	HP:0002650	Scoliosis
ORPHA:2311	DLL3	10683	HP:0001511	Intrauterine growth retardation
ORPHA:2311	RIPPLY2	134701	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2311	RIPPLY2	134701	HP:0002808	Kyphosis
ORPHA:2311	RIPPLY2	134701	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2311	RIPPLY2	134701	HP:0000902	Rib fusion
ORPHA:2311	RIPPLY2	134701	HP:0000470	Short neck
ORPHA:2311	RIPPLY2	134701	HP:0004322	Short stature
ORPHA:2311	RIPPLY2	134701	HP:0010306	Short thorax
ORPHA:2311	RIPPLY2	134701	HP:0002093	Respiratory insufficiency
ORPHA:2311	RIPPLY2	134701	HP:0003422	Vertebral segmentation defect
ORPHA:2311	RIPPLY2	134701	HP:0006655	Rib segmentation abnormalities
ORPHA:2311	RIPPLY2	134701	HP:0010978	Abnormality of immune system physiology
ORPHA:2311	RIPPLY2	134701	HP:0002650	Scoliosis
ORPHA:2311	RIPPLY2	134701	HP:0001511	Intrauterine growth retardation
OMIM:170390	KCNJ2	3759	HP:0000219	Thin upper lip vermilion
OMIM:170390	KCNJ2	3759	HP:0001657	Prolonged QT interval
OMIM:170390	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:170390	KCNJ2	3759	HP:0010049	Short metacarpal
OMIM:170390	KCNJ2	3759	HP:0000175	Cleft palate
OMIM:170390	KCNJ2	3759	HP:0002650	Scoliosis
OMIM:170390	KCNJ2	3759	HP:0000414	Bulbous nose
OMIM:170390	KCNJ2	3759	HP:0001279	Syncope
OMIM:170390	KCNJ2	3759	HP:0000327	Hypoplasia of the maxilla
OMIM:170390	KCNJ2	3759	HP:0000218	High palate
OMIM:170390	KCNJ2	3759	HP:0000369	Low-set ears
OMIM:170390	KCNJ2	3759	HP:0001770	Toe syndactyly
OMIM:170390	KCNJ2	3759	HP:0000252	Microcephaly
OMIM:170390	KCNJ2	3759	HP:0005478	Prominent frontal sinuses
OMIM:170390	KCNJ2	3759	HP:0003778	Short mandibular rami
OMIM:170390	KCNJ2	3759	HP:0001388	Joint laxity
OMIM:170390	KCNJ2	3759	HP:0000677	Oligodontia
OMIM:170390	KCNJ2	3759	HP:0010743	Short metatarsal
OMIM:170390	KCNJ2	3759	HP:0000696	Delayed eruption of permanent teeth
OMIM:170390	KCNJ2	3759	HP:0001773	Short foot
OMIM:170390	KCNJ2	3759	HP:0004467	Preauricular pit
OMIM:170390	KCNJ2	3759	HP:0012745	Short palpebral fissure
OMIM:170390	KCNJ2	3759	HP:0002750	Delayed skeletal maturation
OMIM:170390	KCNJ2	3759	HP:0004279	Short palm
OMIM:170390	KCNJ2	3759	HP:0003691	Scapular winging
OMIM:170390	KCNJ2	3759	HP:0025072	Prominent U wave
OMIM:170390	KCNJ2	3759	HP:0003779	Antegonial notching of mandible
OMIM:170390	KCNJ2	3759	HP:0000324	Facial asymmetry
OMIM:170390	KCNJ2	3759	HP:0008153	Periodic hypokalemic paresis
OMIM:170390	KCNJ2	3759	HP:0006335	Persistence of primary teeth
OMIM:170390	KCNJ2	3759	HP:0001962	Palpitations
OMIM:170390	KCNJ2	3759	HP:0001156	Brachydactyly
OMIM:170390	KCNJ2	3759	HP:0004209	Clinodactyly of the 5th finger
OMIM:170390	KCNJ2	3759	HP:0005147	Bidirectional ventricular ectopy
OMIM:170390	KCNJ2	3759	HP:0200055	Small hand
OMIM:170390	KCNJ2	3759	HP:0000272	Malar flattening
OMIM:170390	KCNJ2	3759	HP:0001507	Growth abnormality
OMIM:170390	KCNJ2	3759	HP:0000316	Hypertelorism
OMIM:170390	KCNJ2	3759	HP:0006297	Hypoplasia of dental enamel
OMIM:170390	KCNJ2	3759	HP:0000325	Triangular face
OMIM:170390	KCNJ2	3759	HP:0000716	Depressivity
OMIM:170390	KCNJ2	3759	HP:0000581	Blepharophimosis
OMIM:170390	KCNJ2	3759	HP:0003100	Slender long bone
OMIM:170390	KCNJ2	3759	HP:0001864	Clinodactyly of the 5th toe
OMIM:170390	KCNJ2	3759	HP:0000337	Broad forehead
OMIM:170390	KCNJ2	3759	HP:0009803	Short phalanx of finger
ORPHA:228169	PDE8B	8622	HP:0002075	Dysdiadochokinesis
ORPHA:228169	PDE8B	8622	HP:0002015	Dysphagia
ORPHA:228169	PDE8B	8622	HP:0001260	Dysarthria
ORPHA:228169	PDE8B	8622	HP:0002063	Rigidity
ORPHA:228169	PDE8B	8622	HP:0001288	Gait disturbance
ORPHA:228169	PDE8B	8622	HP:0002067	Bradykinesia
ORPHA:44890	PDGFRA	5156	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	PDGFRA	5156	HP:0012378	Fatigue
ORPHA:44890	PDGFRA	5156	HP:0002015	Dysphagia
ORPHA:44890	PDGFRA	5156	HP:0006753	Neoplasm of the stomach
ORPHA:44890	PDGFRA	5156	HP:0005214	Intestinal obstruction
ORPHA:44890	PDGFRA	5156	HP:0002017	Nausea and vomiting
ORPHA:44890	PDGFRA	5156	HP:0002019	Constipation
ORPHA:44890	PDGFRA	5156	HP:0100242	Sarcoma
ORPHA:44890	PDGFRA	5156	HP:0100723	Gastrointestinal stroma tumor
ORPHA:44890	SDHA	6389	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	SDHA	6389	HP:0012378	Fatigue
ORPHA:44890	SDHA	6389	HP:0002015	Dysphagia
ORPHA:44890	SDHA	6389	HP:0006753	Neoplasm of the stomach
ORPHA:44890	SDHA	6389	HP:0005214	Intestinal obstruction
ORPHA:44890	SDHA	6389	HP:0002017	Nausea and vomiting
ORPHA:44890	SDHA	6389	HP:0002019	Constipation
ORPHA:44890	SDHA	6389	HP:0100242	Sarcoma
ORPHA:44890	SDHA	6389	HP:0100723	Gastrointestinal stroma tumor
ORPHA:44890	SDHB	6390	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	SDHB	6390	HP:0012378	Fatigue
ORPHA:44890	SDHB	6390	HP:0002015	Dysphagia
ORPHA:44890	SDHB	6390	HP:0006753	Neoplasm of the stomach
ORPHA:44890	SDHB	6390	HP:0005214	Intestinal obstruction
ORPHA:44890	SDHB	6390	HP:0002017	Nausea and vomiting
ORPHA:44890	SDHB	6390	HP:0002019	Constipation
ORPHA:44890	SDHB	6390	HP:0100242	Sarcoma
ORPHA:44890	SDHB	6390	HP:0100723	Gastrointestinal stroma tumor
ORPHA:44890	SDHC	6391	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	SDHC	6391	HP:0012378	Fatigue
ORPHA:44890	SDHC	6391	HP:0002015	Dysphagia
ORPHA:44890	SDHC	6391	HP:0006753	Neoplasm of the stomach
ORPHA:44890	SDHC	6391	HP:0005214	Intestinal obstruction
ORPHA:44890	SDHC	6391	HP:0002017	Nausea and vomiting
ORPHA:44890	SDHC	6391	HP:0002019	Constipation
ORPHA:44890	SDHC	6391	HP:0100242	Sarcoma
ORPHA:44890	SDHC	6391	HP:0100723	Gastrointestinal stroma tumor
ORPHA:44890	KIT	3815	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	KIT	3815	HP:0012378	Fatigue
ORPHA:44890	KIT	3815	HP:0002015	Dysphagia
ORPHA:44890	KIT	3815	HP:0006753	Neoplasm of the stomach
ORPHA:44890	KIT	3815	HP:0005214	Intestinal obstruction
ORPHA:44890	KIT	3815	HP:0002017	Nausea and vomiting
ORPHA:44890	KIT	3815	HP:0002019	Constipation
ORPHA:44890	KIT	3815	HP:0100242	Sarcoma
ORPHA:44890	KIT	3815	HP:0100723	Gastrointestinal stroma tumor
OMIM:616479	RNASEH1	246243	HP:0003676	Progressive
OMIM:616479	RNASEH1	246243	HP:0002151	Increased serum lactate
OMIM:616479	RNASEH1	246243	HP:0001260	Dysarthria
OMIM:616479	RNASEH1	246243	HP:0002015	Dysphagia
OMIM:616479	RNASEH1	246243	HP:0000007	Autosomal recessive inheritance
OMIM:616479	RNASEH1	246243	HP:0000590	Progressive external ophthalmoplegia
OMIM:616479	RNASEH1	246243	HP:0001272	Cerebellar atrophy
OMIM:616479	RNASEH1	246243	HP:0003546	Exercise intolerance
OMIM:616479	RNASEH1	246243	HP:0002172	Postural instability
OMIM:616479	RNASEH1	246243	HP:0002317	Unsteady gait
OMIM:616479	RNASEH1	246243	HP:0003202	Skeletal muscle atrophy
OMIM:616479	RNASEH1	246243	HP:0000508	Ptosis
OMIM:615574	ASNS	440	HP:0008936	Muscular hypotonia of the trunk
OMIM:615574	ASNS	440	HP:0009879	Cortical gyral simplification
OMIM:615574	ASNS	440	HP:0001833	Long foot
OMIM:615574	ASNS	440	HP:0012110	Hypoplasia of the pons
OMIM:615574	ASNS	440	HP:0002267	Exaggerated startle response
OMIM:615574	ASNS	440	HP:0011968	Feeding difficulties
OMIM:615574	ASNS	440	HP:0001176	Large hands
OMIM:615574	ASNS	440	HP:0003676	Progressive
OMIM:615574	ASNS	440	HP:0002521	Hypsarrhythmia
OMIM:615574	ASNS	440	HP:0012736	Profound global developmental delay
OMIM:615574	ASNS	440	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615574	ASNS	440	HP:0002119	Ventriculomegaly
OMIM:615574	ASNS	440	HP:0000400	Macrotia
OMIM:615574	ASNS	440	HP:0012448	Delayed myelination
OMIM:615574	ASNS	440	HP:0000340	Sloping forehead
OMIM:615574	ASNS	440	HP:0001508	Failure to thrive
OMIM:615574	ASNS	440	HP:0002093	Respiratory insufficiency
OMIM:615574	ASNS	440	HP:0100704	Cortical visual impairment
OMIM:615574	ASNS	440	HP:0000253	Progressive microcephaly
OMIM:615574	ASNS	440	HP:0002510	Spastic tetraplegia
OMIM:615574	ASNS	440	HP:0001347	Hyperreflexia
OMIM:615574	ASNS	440	HP:0000252	Microcephaly
OMIM:615574	ASNS	440	HP:0001250	Seizures
OMIM:615574	ASNS	440	HP:0001321	Cerebellar hypoplasia
OMIM:615574	ASNS	440	HP:0002539	Cortical dysplasia
OMIM:615574	ASNS	440	HP:0000007	Autosomal recessive inheritance
OMIM:615574	ASNS	440	HP:0000347	Micrognathia
OMIM:615574	ASNS	440	HP:0001298	Encephalopathy
OMIM:615574	ASNS	440	HP:0001263	Global developmental delay
ORPHA:99736	SCN4A	6329	HP:0001276	Hypertonia
ORPHA:99736	SCN4A	6329	HP:0100749	Chest pain
ORPHA:99736	SCN4A	6329	HP:0002486	Myotonia
ORPHA:99736	SCN4A	6329	HP:0003326	Myalgia
ORPHA:99736	SCN4A	6329	HP:0003457	EMG abnormality
ORPHA:99736	SCN4A	6329	HP:0003394	Muscle cramps
ORPHA:85194	XYLT2	64132	HP:0000926	Platyspondyly
ORPHA:85194	XYLT2	64132	HP:0000316	Hypertelorism
ORPHA:85194	XYLT2	64132	HP:0000534	Abnormality of the eyebrow
ORPHA:85194	XYLT2	64132	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHA:85194	XYLT2	64132	HP:0000939	Osteoporosis
ORPHA:85194	XYLT2	64132	HP:0005108	Abnormality of the intervertebral disk
ORPHA:85194	XYLT2	64132	HP:0007730	Iris hypopigmentation
ORPHA:85194	XYLT2	64132	HP:0000572	Visual loss
ORPHA:85194	XYLT2	64132	HP:0000470	Short neck
ORPHA:85194	XYLT2	64132	HP:0003521	Disproportionate short-trunk short stature
ORPHA:85194	XYLT2	64132	HP:0001629	Ventricular septal defect
ORPHA:85194	XYLT2	64132	HP:0002942	Thoracic kyphosis
ORPHA:85194	XYLT2	64132	HP:0000518	Cataract
ORPHA:85194	XYLT2	64132	HP:0000541	Retinal detachment
ORPHA:85194	XYLT2	64132	HP:0000297	Facial hypotonia
ORPHA:85194	XYLT2	64132	HP:0001763	Pes planus
ORPHA:85194	XYLT2	64132	HP:0000568	Microphthalmia
OMIM:310500	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:310500	NYX	60506	HP:0001419	X-linked recessive inheritance
OMIM:310500	NYX	60506	HP:0011003	Severe Myopia
OMIM:310500	NYX	60506	HP:0012047	Hemeralopia
OMIM:300912	NEXMIF	340533	HP:0001249	Intellectual disability
OMIM:300912	NEXMIF	340533	HP:0003577	Congenital onset
OMIM:300912	NEXMIF	340533	HP:0005484	Postnatal microcephaly
OMIM:300912	NEXMIF	340533	HP:0001419	X-linked recessive inheritance
OMIM:300912	NEXMIF	340533	HP:0000311	Round face
OMIM:300912	NEXMIF	340533	HP:0003196	Short nose
OMIM:300912	NEXMIF	340533	HP:0000565	Esotropia
OMIM:300912	NEXMIF	340533	HP:0000752	Hyperactivity
OMIM:300912	NEXMIF	340533	HP:0001250	Seizures
OMIM:300912	NEXMIF	340533	HP:0000733	Stereotypy
OMIM:300912	NEXMIF	340533	HP:0001508	Failure to thrive
OMIM:300912	NEXMIF	340533	HP:0002020	Gastroesophageal reflux
OMIM:300912	NEXMIF	340533	HP:0000817	Poor eye contact
OMIM:300912	NEXMIF	340533	HP:0000322	Short philtrum
OMIM:300912	NEXMIF	340533	HP:0001263	Global developmental delay
OMIM:300912	NEXMIF	340533	HP:0001257	Spasticity
OMIM:300912	NEXMIF	340533	HP:0000252	Microcephaly
OMIM:300912	NEXMIF	340533	HP:0008936	Muscular hypotonia of the trunk
OMIM:300912	NEXMIF	340533	HP:0001510	Growth delay
OMIM:182212	SKI	6497	HP:0008440	C1-C2 vertebral abnormality
OMIM:182212	SKI	6497	HP:0000006	Autosomal dominant inheritance
OMIM:182212	SKI	6497	HP:0001763	Pes planus
OMIM:182212	SKI	6497	HP:0000260	Wide anterior fontanel
OMIM:182212	SKI	6497	HP:0000689	Dental malocclusion
OMIM:182212	SKI	6497	HP:0009023	Abdominal wall muscle weakness
OMIM:182212	SKI	6497	HP:0000189	Narrow palate
OMIM:182212	SKI	6497	HP:0000768	Pectus carinatum
OMIM:182212	SKI	6497	HP:0002816	Genu recurvatum
OMIM:182212	SKI	6497	HP:0001724	Aortic dilatation
OMIM:182212	SKI	6497	HP:0000508	Ptosis
OMIM:182212	SKI	6497	HP:0000486	Strabismus
OMIM:182212	SKI	6497	HP:0003016	Metaphyseal widening
OMIM:182212	SKI	6497	HP:0000974	Hyperextensible skin
OMIM:182212	SKI	6497	HP:0003083	Dislocated radial head
OMIM:182212	SKI	6497	HP:0001263	Global developmental delay
OMIM:182212	SKI	6497	HP:0002020	Gastroesophageal reflux
OMIM:182212	SKI	6497	HP:0007099	Arnold-Chiari type I malformation
OMIM:182212	SKI	6497	HP:0000586	Shallow orbits
OMIM:182212	SKI	6497	HP:0009473	Joint contracture of the hand
OMIM:182212	SKI	6497	HP:0001634	Mitral valve prolapse
OMIM:182212	SKI	6497	HP:0005815	Supernumerary ribs
OMIM:182212	SKI	6497	HP:0000347	Micrognathia
OMIM:182212	SKI	6497	HP:0001840	Metatarsus adductus
OMIM:182212	SKI	6497	HP:0000327	Hypoplasia of the maxilla
OMIM:182212	SKI	6497	HP:0001166	Arachnodactyly
OMIM:182212	SKI	6497	HP:0008872	Feeding difficulties in infancy
OMIM:182212	SKI	6497	HP:0003745	Sporadic
OMIM:182212	SKI	6497	HP:0003717	Minimal subcutaneous fat
OMIM:182212	SKI	6497	HP:0000368	Low-set, posteriorly rotated ears
OMIM:182212	SKI	6497	HP:0002870	Obstructive sleep apnea
OMIM:182212	SKI	6497	HP:0000895	Lateral clavicle hook
OMIM:182212	SKI	6497	HP:0000938	Osteopenia
OMIM:182212	SKI	6497	HP:0001290	Generalized hypotonia
OMIM:182212	SKI	6497	HP:0001249	Intellectual disability
OMIM:182212	SKI	6497	HP:0000494	Downslanted palpebral fissures
OMIM:182212	SKI	6497	HP:0000883	Thin ribs
OMIM:182212	SKI	6497	HP:0000767	Pectus excavatum
OMIM:182212	SKI	6497	HP:0000545	Myopia
OMIM:182212	SKI	6497	HP:0000238	Hydrocephalus
OMIM:182212	SKI	6497	HP:0001363	Craniosynostosis
OMIM:182212	SKI	6497	HP:0002650	Scoliosis
OMIM:182212	SKI	6497	HP:0000506	Telecanthus
OMIM:182212	SKI	6497	HP:0000268	Dolichocephaly
OMIM:182212	SKI	6497	HP:0000377	Abnormality of the pinna
OMIM:182212	SKI	6497	HP:0002007	Frontal bossing
OMIM:182212	SKI	6497	HP:0012385	Camptodactyly
OMIM:182212	SKI	6497	HP:0000316	Hypertelorism
OMIM:182212	SKI	6497	HP:0000463	Anteverted nares
OMIM:182212	SKI	6497	HP:0000252	Microcephaly
OMIM:182212	SKI	6497	HP:0001762	Talipes equinovarus
OMIM:182212	SKI	6497	HP:0000405	Conductive hearing impairment
OMIM:182212	SKI	6497	HP:0001388	Joint laxity
OMIM:182212	SKI	6497	HP:0001537	Umbilical hernia
OMIM:616507	SPARC	6678	HP:0001324	Muscle weakness
OMIM:616507	SPARC	6678	HP:0000750	Delayed speech and language development
OMIM:616507	SPARC	6678	HP:0004322	Short stature
OMIM:616507	SPARC	6678	HP:0000939	Osteoporosis
OMIM:616507	SPARC	6678	HP:0002953	Vertebral compression fractures
OMIM:616507	SPARC	6678	HP:0006086	Thin metacarpal cortices
OMIM:616507	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:616507	SPARC	6678	HP:0001270	Motor delay
OMIM:616507	SPARC	6678	HP:0000977	Soft skin
OMIM:616507	SPARC	6678	HP:0001252	Muscular hypotonia
OMIM:616507	SPARC	6678	HP:0002650	Scoliosis
OMIM:616507	SPARC	6678	HP:0003199	Decreased muscle mass
OMIM:166900	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:166900	SLC4A1	6521	HP:0004445	Elliptocytosis
OMIM:166900	SLC4A1	6521	HP:0001878	Hemolytic anemia
ORPHA:1187	PRPS1	5631	HP:0000505	Visual impairment
ORPHA:1187	PRPS1	5631	HP:0001249	Intellectual disability
ORPHA:1187	PRPS1	5631	HP:0009830	Peripheral neuropathy
ORPHA:1187	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
ORPHA:1187	PRPS1	5631	HP:0002093	Respiratory insufficiency
ORPHA:1187	PRPS1	5631	HP:0000762	Decreased nerve conduction velocity
ORPHA:1187	PRPS1	5631	HP:0001284	Areflexia
ORPHA:1187	PRPS1	5631	HP:0003719	Muscle mounding
ORPHA:1187	PRPS1	5631	HP:0001522	Death in infancy
ORPHA:1187	PRPS1	5631	HP:0001252	Muscular hypotonia
ORPHA:1187	PRPS1	5631	HP:0001263	Global developmental delay
ORPHA:1187	PRPS1	5631	HP:0003323	Progressive muscle weakness
ORPHA:1187	PRPS1	5631	HP:0002445	Tetraplegia
ORPHA:1187	PRPS1	5631	HP:0000648	Optic atrophy
ORPHA:1187	PRPS1	5631	HP:0001251	Ataxia
OMIM:230200	GALK1	2584	HP:0012023	Galactosuria
OMIM:230200	GALK1	2584	HP:0000518	Cataract
OMIM:230200	GALK1	2584	HP:0000007	Autosomal recessive inheritance
OMIM:230200	GALK1	2584	HP:0012024	Hypergalactosemia
OMIM:230200	GALK1	2584	HP:0006579	Prolonged neonatal jaundice
ORPHA:99880	CDC73	79577	HP:0008250	Infantile hypercalcemia
ORPHA:99880	CDC73	79577	HP:0001959	Polydipsia
ORPHA:99880	CDC73	79577	HP:0000939	Osteoporosis
ORPHA:99880	CDC73	79577	HP:0002150	Hypercalciuria
ORPHA:99880	CDC73	79577	HP:0012232	Shortened QT interval
ORPHA:99880	CDC73	79577	HP:0012378	Fatigue
ORPHA:99880	CDC73	79577	HP:0002148	Hypophosphatemia
ORPHA:99880	CDC73	79577	HP:0008200	Primary hyperparathyroidism
ORPHA:99880	CDC73	79577	HP:0000787	Nephrolithiasis
ORPHA:99880	CDC73	79577	HP:0000131	Uterine leiomyoma
ORPHA:99880	CDC73	79577	HP:0002897	Parathyroid adenoma
ORPHA:99880	CDC73	79577	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:99880	CDC73	79577	HP:0010614	Fibroma
ORPHA:99880	CDC73	79577	HP:0002015	Dysphagia
ORPHA:99880	CDC73	79577	HP:0000121	Nephrocalcinosis
OMIM:212093	PLD1	5337	HP:0000023	Inguinal hernia
OMIM:212093	PLD1	5337	HP:0001789	Hydrops fetalis
OMIM:212093	PLD1	5337	HP:0005180	Tricuspid regurgitation
OMIM:212093	PLD1	5337	HP:0031014	Arteria lusoria
OMIM:212093	PLD1	5337	HP:0000969	Edema
OMIM:212093	PLD1	5337	HP:0000126	Hydronephrosis
OMIM:212093	PLD1	5337	HP:0001655	Patent foramen ovale
OMIM:212093	PLD1	5337	HP:0001704	Tricuspid valve prolapse
OMIM:212093	PLD1	5337	HP:0001718	Mitral stenosis
OMIM:212093	PLD1	5337	HP:0001634	Mitral valve prolapse
OMIM:212093	PLD1	5337	HP:0000007	Autosomal recessive inheritance
OMIM:212093	PLD1	5337	HP:0008722	Urethral diverticulum
OMIM:212093	PLD1	5337	HP:0000072	Hydroureter
OMIM:259710	TNFSF11	8600	HP:0001433	Hepatosplenomegaly
OMIM:259710	TNFSF11	8600	HP:0007209	Facial paralysis
OMIM:259710	TNFSF11	8600	HP:0006335	Persistence of primary teeth
OMIM:259710	TNFSF11	8600	HP:0002857	Genu valgum
OMIM:259710	TNFSF11	8600	HP:0003034	Diaphyseal sclerosis
OMIM:259710	TNFSF11	8600	HP:0011002	Osteopetrosis
OMIM:259710	TNFSF11	8600	HP:0000303	Mandibular prognathia
OMIM:259710	TNFSF11	8600	HP:0000670	Carious teeth
OMIM:259710	TNFSF11	8600	HP:0001873	Thrombocytopenia
OMIM:259710	TNFSF11	8600	HP:0001903	Anemia
OMIM:259710	TNFSF11	8600	HP:0002757	Recurrent fractures
OMIM:259710	TNFSF11	8600	HP:0000648	Optic atrophy
OMIM:259710	TNFSF11	8600	HP:0000007	Autosomal recessive inheritance
OMIM:259710	TNFSF11	8600	HP:0000618	Blindness
OMIM:259710	TNFSF11	8600	HP:0004437	Cranial hyperostosis
OMIM:259710	TNFSF11	8600	HP:0001876	Pancytopenia
OMIM:259710	TNFSF11	8600	HP:0007626	Mandibular osteomyelitis
OMIM:259710	TNFSF11	8600	HP:0001978	Extramedullary hematopoiesis
OMIM:259710	TNFSF11	8600	HP:0004499	Chronic rhinitis due to narrow nasal airway
OMIM:304700	TIMM8A	1678	HP:0001257	Spasticity
OMIM:304700	TIMM8A	1678	HP:0001268	Mental deterioration
OMIM:304700	TIMM8A	1678	HP:0001332	Dystonia
OMIM:304700	TIMM8A	1678	HP:0000613	Photophobia
OMIM:304700	TIMM8A	1678	HP:0100704	Cortical visual impairment
OMIM:304700	TIMM8A	1678	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:304700	TIMM8A	1678	HP:0001347	Hyperreflexia
OMIM:304700	TIMM8A	1678	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304700	TIMM8A	1678	HP:0001133	Constriction of peripheral visual field
OMIM:304700	TIMM8A	1678	HP:0002659	Increased susceptibility to fractures
OMIM:304700	TIMM8A	1678	HP:0011463	Childhood onset
OMIM:304700	TIMM8A	1678	HP:0000512	Abnormal electroretinogram
OMIM:304700	TIMM8A	1678	HP:0007663	Reduced visual acuity
OMIM:304700	TIMM8A	1678	HP:0001260	Dysarthria
OMIM:304700	TIMM8A	1678	HP:0002533	Abnormal posturing
OMIM:304700	TIMM8A	1678	HP:0000545	Myopia
OMIM:304700	TIMM8A	1678	HP:0000505	Visual impairment
OMIM:304700	TIMM8A	1678	HP:0001337	Tremor
OMIM:304700	TIMM8A	1678	HP:0002015	Dysphagia
OMIM:304700	TIMM8A	1678	HP:0001419	X-linked recessive inheritance
OMIM:600795	CHMP2B	25978	HP:0002145	Frontotemporal dementia
OMIM:600795	CHMP2B	25978	HP:0002442	Dyscalculia
OMIM:600795	CHMP2B	25978	HP:0002371	Loss of speech
OMIM:600795	CHMP2B	25978	HP:0000734	Disinhibition
OMIM:600795	CHMP2B	25978	HP:0000718	Aggressive behavior
OMIM:600795	CHMP2B	25978	HP:0000710	Hyperorality
OMIM:600795	CHMP2B	25978	HP:0002300	Mutism
OMIM:600795	CHMP2B	25978	HP:0000711	Restlessness
OMIM:600795	CHMP2B	25978	HP:0000733	Stereotypy
OMIM:600795	CHMP2B	25978	HP:0000743	Frontal release signs
OMIM:600795	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:600795	CHMP2B	25978	HP:0001336	Myoclonus
OMIM:600795	CHMP2B	25978	HP:0003487	Babinski sign
OMIM:600795	CHMP2B	25978	HP:0000741	Apathy
OMIM:600795	CHMP2B	25978	HP:0002354	Memory impairment
OMIM:600795	CHMP2B	25978	HP:0001347	Hyperreflexia
OMIM:600795	CHMP2B	25978	HP:0002446	Astrocytosis
OMIM:600795	CHMP2B	25978	HP:0000751	Personality changes
OMIM:600795	CHMP2B	25978	HP:0000757	Lack of insight
OMIM:600795	CHMP2B	25978	HP:0000020	Urinary incontinence
OMIM:600795	CHMP2B	25978	HP:0002063	Rigidity
OMIM:600795	CHMP2B	25978	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	CHMP2B	25978	HP:0001288	Gait disturbance
OMIM:600795	CHMP2B	25978	HP:0001332	Dystonia
OMIM:600795	CHMP2B	25978	HP:0002310	Orofacial dyskinesia
OMIM:600795	CHMP2B	25978	HP:0002120	Cerebral cortical atrophy
OMIM:613320	PAM16	51025	HP:0003175	Hypoplastic ischia
OMIM:613320	PAM16	51025	HP:0000369	Low-set ears
OMIM:613320	PAM16	51025	HP:0001518	Small for gestational age
OMIM:613320	PAM16	51025	HP:0003021	Metaphyseal cupping
OMIM:613320	PAM16	51025	HP:0002645	Wormian bones
OMIM:613320	PAM16	51025	HP:0003026	Short long bone
OMIM:613320	PAM16	51025	HP:0000470	Short neck
OMIM:613320	PAM16	51025	HP:0000463	Anteverted nares
OMIM:613320	PAM16	51025	HP:0004322	Short stature
OMIM:613320	PAM16	51025	HP:0001263	Global developmental delay
OMIM:613320	PAM16	51025	HP:0000445	Wide nose
OMIM:613320	PAM16	51025	HP:0001591	Bell-shaped thorax
OMIM:613320	PAM16	51025	HP:0005280	Depressed nasal bridge
OMIM:613320	PAM16	51025	HP:0001640	Cardiomegaly
OMIM:613320	PAM16	51025	HP:0002789	Tachypnea
OMIM:613320	PAM16	51025	HP:0000239	Large fontanelles
OMIM:613320	PAM16	51025	HP:0008936	Muscular hypotonia of the trunk
OMIM:613320	PAM16	51025	HP:0000311	Round face
OMIM:613320	PAM16	51025	HP:0002657	Spondylometaphyseal dysplasia
OMIM:613320	PAM16	51025	HP:0008551	Microtia
OMIM:613320	PAM16	51025	HP:0002002	Deep philtrum
OMIM:613320	PAM16	51025	HP:0004565	Severe platyspondyly
OMIM:613320	PAM16	51025	HP:0000773	Short ribs
OMIM:613320	PAM16	51025	HP:0002983	Micromelia
OMIM:613320	PAM16	51025	HP:0002007	Frontal bossing
OMIM:613320	PAM16	51025	HP:0008786	Iliac crest serration
OMIM:613320	PAM16	51025	HP:0002092	Pulmonary arterial hypertension
OMIM:613320	PAM16	51025	HP:0003196	Short nose
OMIM:613320	PAM16	51025	HP:0011220	Prominent forehead
OMIM:613320	PAM16	51025	HP:0002750	Delayed skeletal maturation
OMIM:613320	PAM16	51025	HP:0003177	Squared iliac bones
OMIM:613320	PAM16	51025	HP:0000774	Narrow chest
OMIM:613320	PAM16	51025	HP:0000007	Autosomal recessive inheritance
OMIM:605714	APP	351	HP:0001297	Stroke
OMIM:605714	APP	351	HP:0004968	Recurrent cerebral hemorrhage
OMIM:605714	APP	351	HP:0004938	Tortuous cerebral arteries
OMIM:605714	APP	351	HP:0011695	Cerebellar hemorrhage
OMIM:605714	APP	351	HP:0000726	Dementia
OMIM:605714	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:605714	APP	351	HP:0011970	Cerebral amyloid angiopathy
OMIM:605714	APP	351	HP:0002637	Cerebral ischemia
OMIM:614736	NNT	23530	HP:0001943	Hypoglycemia
OMIM:614736	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:614736	NNT	23530	HP:0001508	Failure to thrive
ORPHA:276280	PIK3CA	5290	HP:0004099	Macrodactyly
ORPHA:276280	PIK3CA	5290	HP:0001548	Overgrowth
ORPHA:276280	PIK3CA	5290	HP:0100659	Abnormality of the cerebral vasculature
OMIM:616740	TFRC	7037	HP:0000007	Autosomal recessive inheritance
OMIM:616740	TFRC	7037	HP:0004313	Decreased antibody level in blood
OMIM:616740	TFRC	7037	HP:0001875	Neutropenia
OMIM:300373	AMER1	139285	HP:0001256	Intellectual disability, mild
OMIM:300373	AMER1	139285	HP:0010740	Osteopathia striata
OMIM:300373	AMER1	139285	HP:0012385	Camptodactyly
OMIM:300373	AMER1	139285	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:300373	AMER1	139285	HP:0000193	Bifid uvula
OMIM:300373	AMER1	139285	HP:0002007	Frontal bossing
OMIM:300373	AMER1	139285	HP:0005830	Flexion contracture of toe
OMIM:300373	AMER1	139285	HP:0000238	Hydrocephalus
OMIM:300373	AMER1	139285	HP:0006610	Wide intermamillary distance
OMIM:300373	AMER1	139285	HP:0002694	Sclerosis of skull base
OMIM:300373	AMER1	139285	HP:0002779	Tracheomalacia
OMIM:300373	AMER1	139285	HP:0000201	Pierre-Robin sequence
OMIM:300373	AMER1	139285	HP:0000431	Wide nasal bridge
OMIM:300373	AMER1	139285	HP:0001290	Generalized hypotonia
OMIM:300373	AMER1	139285	HP:0000175	Cleft palate
OMIM:300373	AMER1	139285	HP:0000316	Hypertelorism
OMIM:300373	AMER1	139285	HP:0000689	Dental malocclusion
OMIM:300373	AMER1	139285	HP:0002104	Apnea
OMIM:300373	AMER1	139285	HP:0001508	Failure to thrive
OMIM:300373	AMER1	139285	HP:0001629	Ventricular septal defect
OMIM:300373	AMER1	139285	HP:0000358	Posteriorly rotated ears
OMIM:300373	AMER1	139285	HP:0000369	Low-set ears
OMIM:300373	AMER1	139285	HP:0000405	Conductive hearing impairment
OMIM:300373	AMER1	139285	HP:0001250	Seizures
OMIM:300373	AMER1	139285	HP:0001762	Talipes equinovarus
OMIM:300373	AMER1	139285	HP:0000695	Natal tooth
OMIM:300373	AMER1	139285	HP:0002566	Intestinal malrotation
OMIM:300373	AMER1	139285	HP:0000341	Narrow forehead
OMIM:300373	AMER1	139285	HP:0006587	Straight clavicles
OMIM:300373	AMER1	139285	HP:0004209	Clinodactyly of the 5th finger
OMIM:300373	AMER1	139285	HP:0000767	Pectus excavatum
OMIM:300373	AMER1	139285	HP:0009473	Joint contracture of the hand
OMIM:300373	AMER1	139285	HP:0000286	Epicanthus
OMIM:300373	AMER1	139285	HP:0000396	Overfolded helix
OMIM:300373	AMER1	139285	HP:0010628	Facial palsy
OMIM:300373	AMER1	139285	HP:0001611	Nasal speech
OMIM:300373	AMER1	139285	HP:0000678	Dental crowding
OMIM:300373	AMER1	139285	HP:0006784	Paranasal sinus hypoplasia
OMIM:300373	AMER1	139285	HP:0001338	Partial agenesis of the corpus callosum
OMIM:300373	AMER1	139285	HP:0001631	Atrial septal defect
OMIM:300373	AMER1	139285	HP:0000239	Large fontanelles
OMIM:300373	AMER1	139285	HP:0000465	Webbed neck
OMIM:300373	AMER1	139285	HP:0002990	Fibular aplasia
OMIM:300373	AMER1	139285	HP:0004322	Short stature
OMIM:300373	AMER1	139285	HP:0008551	Microtia
OMIM:300373	AMER1	139285	HP:0002020	Gastroesophageal reflux
OMIM:300373	AMER1	139285	HP:0005619	Thoracolumbar kyphosis
OMIM:300373	AMER1	139285	HP:0001166	Arachnodactyly
OMIM:300373	AMER1	139285	HP:0000179	Thick lower lip vermilion
OMIM:300373	AMER1	139285	HP:0003298	Spina bifida occulta
OMIM:300373	AMER1	139285	HP:0000885	Broad ribs
OMIM:300373	AMER1	139285	HP:0001643	Patent ductus arteriosus
OMIM:300373	AMER1	139285	HP:0001561	Polyhydramnios
OMIM:300373	AMER1	139285	HP:0005950	Laryngeal web
OMIM:300373	AMER1	139285	HP:0000347	Micrognathia
OMIM:300373	AMER1	139285	HP:0001423	X-linked dominant inheritance
OMIM:300373	AMER1	139285	HP:0001562	Oligohydramnios
OMIM:300373	AMER1	139285	HP:0000204	Cleft upper lip
OMIM:300373	AMER1	139285	HP:0002684	Thickened calvaria
OMIM:300373	AMER1	139285	HP:0000256	Macrocephaly
OMIM:300373	AMER1	139285	HP:0003038	Fibular hypoplasia
OMIM:300373	AMER1	139285	HP:0005464	Craniofacial osteosclerosis
OMIM:615996	IFT27	11020	HP:0000083	Renal insufficiency
OMIM:615996	IFT27	11020	HP:0001513	Obesity
OMIM:615996	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615996	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615996	IFT27	11020	HP:0004409	Hyposmia
OMIM:615996	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615996	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615996	IFT27	11020	HP:0010442	Polydactyly
OMIM:615996	IFT27	11020	HP:0000007	Autosomal recessive inheritance
ORPHA:179494	LEPR	3953	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:179494	LEPR	3953	HP:0000771	Gynecomastia
ORPHA:179494	LEPR	3953	HP:0000842	Hyperinsulinemia
ORPHA:179494	LEPR	3953	HP:0003292	Decreased serum leptin
ORPHA:179494	LEPR	3953	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
ORPHA:179494	LEPR	3953	HP:0000786	Primary amenorrhea
ORPHA:179494	LEPR	3953	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:179494	LEPR	3953	HP:0008245	Pituitary hypothyroidism
ORPHA:179494	LEPR	3953	HP:0005407	Decreased number of CD4+ T cells
ORPHA:179494	LEPR	3953	HP:0008187	Absence of secondary sex characteristics
ORPHA:179494	LEPR	3953	HP:0008734	Decreased testicular size
ORPHA:179494	LEPR	3953	HP:0001513	Obesity
ORPHA:179494	LEPR	3953	HP:0008724	Hypoplasia of the ovary
ORPHA:179494	LEPR	3953	HP:0002155	Hypertriglyceridemia
ORPHA:179494	LEPR	3953	HP:0005419	Decreased T cell activation
ORPHA:179494	LEPR	3953	HP:0000712	Emotional lability
ORPHA:179494	LEPR	3953	HP:0002591	Polyphagia
ORPHA:179494	LEPR	3953	HP:0005616	Accelerated skeletal maturation
ORPHA:179494	LEPR	3953	HP:0008214	Decreased serum estradiol
ORPHA:179494	LEPR	3953	HP:0008230	Decreased testosterone in males
ORPHA:179494	LEPR	3953	HP:0002788	Recurrent upper respiratory tract infections
OMIM:601776	CHST14	113189	HP:0000270	Delayed cranial suture closure
OMIM:601776	CHST14	113189	HP:0001373	Joint dislocation
OMIM:601776	CHST14	113189	HP:0002761	Generalized joint laxity
OMIM:601776	CHST14	113189	HP:0001030	Fragile skin
OMIM:601776	CHST14	113189	HP:0000239	Large fontanelles
OMIM:601776	CHST14	113189	HP:0000337	Broad forehead
OMIM:601776	CHST14	113189	HP:0000506	Telecanthus
OMIM:601776	CHST14	113189	HP:0000365	Hearing impairment
OMIM:601776	CHST14	113189	HP:0001631	Atrial septal defect
OMIM:601776	CHST14	113189	HP:0002036	Hiatus hernia
OMIM:601776	CHST14	113189	HP:0002246	Abnormality of the duodenum
OMIM:601776	CHST14	113189	HP:0000219	Thin upper lip vermilion
OMIM:601776	CHST14	113189	HP:0000541	Retinal detachment
OMIM:601776	CHST14	113189	HP:0001581	Recurrent skin infections
OMIM:601776	CHST14	113189	HP:0001388	Joint laxity
OMIM:601776	CHST14	113189	HP:0000126	Hydronephrosis
OMIM:601776	CHST14	113189	HP:0000494	Downslanted palpebral fissures
OMIM:601776	CHST14	113189	HP:0004425	Flat forehead
OMIM:601776	CHST14	113189	HP:0001181	Adducted thumb
OMIM:601776	CHST14	113189	HP:0000358	Posteriorly rotated ears
OMIM:601776	CHST14	113189	HP:0000316	Hypertelorism
OMIM:601776	CHST14	113189	HP:0000486	Strabismus
OMIM:601776	CHST14	113189	HP:0002119	Ventriculomegaly
OMIM:601776	CHST14	113189	HP:0001762	Talipes equinovarus
OMIM:601776	CHST14	113189	HP:0002107	Pneumothorax
OMIM:601776	CHST14	113189	HP:0001263	Global developmental delay
OMIM:601776	CHST14	113189	HP:0001166	Arachnodactyly
OMIM:601776	CHST14	113189	HP:0100699	Scarring
OMIM:601776	CHST14	113189	HP:0000218	High palate
OMIM:601776	CHST14	113189	HP:0000545	Myopia
OMIM:601776	CHST14	113189	HP:0000482	Microcornea
OMIM:601776	CHST14	113189	HP:0001290	Generalized hypotonia
OMIM:601776	CHST14	113189	HP:0000501	Glaucoma
OMIM:601776	CHST14	113189	HP:0000028	Cryptorchidism
OMIM:601776	CHST14	113189	HP:0000767	Pectus excavatum
OMIM:601776	CHST14	113189	HP:0000978	Bruising susceptibility
OMIM:601776	CHST14	113189	HP:0001537	Umbilical hernia
OMIM:601776	CHST14	113189	HP:0002566	Intestinal malrotation
OMIM:601776	CHST14	113189	HP:0000248	Brachycephaly
OMIM:601776	CHST14	113189	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601776	CHST14	113189	HP:0000160	Narrow mouth
OMIM:601776	CHST14	113189	HP:0000324	Facial asymmetry
OMIM:601776	CHST14	113189	HP:0000308	Microretrognathia
OMIM:601776	CHST14	113189	HP:0000411	Protruding ear
OMIM:601776	CHST14	113189	HP:0001270	Motor delay
OMIM:601776	CHST14	113189	HP:0002019	Constipation
OMIM:601776	CHST14	113189	HP:0000343	Long philtrum
OMIM:601776	CHST14	113189	HP:0000100	Nephrotic syndrome
OMIM:601776	CHST14	113189	HP:0000974	Hyperextensible skin
OMIM:601776	CHST14	113189	HP:0000007	Autosomal recessive inheritance
OMIM:601776	CHST14	113189	HP:0000175	Cleft palate
OMIM:601776	CHST14	113189	HP:0002650	Scoliosis
OMIM:601776	CHST14	113189	HP:0000592	Blue sclerae
OMIM:601776	CHST14	113189	HP:0000593	Abnormality of the anterior chamber
OMIM:601776	CHST14	113189	HP:0005684	Distal arthrogryposis
OMIM:601776	CHST14	113189	HP:0001540	Diastasis recti
ORPHA:93360	KIF22	3835	HP:0003196	Short nose
ORPHA:93360	KIF22	3835	HP:0002007	Frontal bossing
ORPHA:93360	KIF22	3835	HP:0003045	Abnormality of the patella
ORPHA:93360	KIF22	3835	HP:0006236	Slender metacarpals
ORPHA:93360	KIF22	3835	HP:0009164	Abnormal calcification of the carpal bones
ORPHA:93360	KIF22	3835	HP:0005107	Abnormality of the sacrum
ORPHA:93360	KIF22	3835	HP:0002164	Nail dysplasia
ORPHA:93360	KIF22	3835	HP:0002857	Genu valgum
ORPHA:93360	KIF22	3835	HP:0003025	Metaphyseal irregularity
ORPHA:93360	KIF22	3835	HP:0008755	Laryngotracheomalacia
ORPHA:93360	KIF22	3835	HP:0002808	Kyphosis
ORPHA:93360	KIF22	3835	HP:0001602	Laryngeal stenosis
ORPHA:93360	KIF22	3835	HP:0000272	Malar flattening
ORPHA:93360	KIF22	3835	HP:0001263	Global developmental delay
ORPHA:93360	KIF22	3835	HP:0005280	Depressed nasal bridge
ORPHA:93360	KIF22	3835	HP:0002983	Micromelia
ORPHA:93360	KIF22	3835	HP:0005692	Joint hyperflexibility
ORPHA:93360	KIF22	3835	HP:0000256	Macrocephaly
ORPHA:93360	KIF22	3835	HP:0003370	Flat capital femoral epiphysis
ORPHA:93360	KIF22	3835	HP:0000463	Anteverted nares
ORPHA:93360	KIF22	3835	HP:0100625	Enlarged thorax
ORPHA:93360	KIF22	3835	HP:0002758	Osteoarthritis
ORPHA:93360	KIF22	3835	HP:0000445	Wide nose
ORPHA:93360	KIF22	3835	HP:0000926	Platyspondyly
ORPHA:93360	KIF22	3835	HP:0004322	Short stature
ORPHA:93360	KIF22	3835	HP:0002650	Scoliosis
ORPHA:93360	KIF22	3835	HP:0002827	Hip dislocation
ORPHA:93360	KIF22	3835	HP:0002652	Skeletal dysplasia
ORPHA:2322	RAP1A	5906	HP:0000508	Ptosis
ORPHA:2322	RAP1A	5906	HP:0002120	Cerebral cortical atrophy
ORPHA:2322	RAP1A	5906	HP:0000238	Hydrocephalus
ORPHA:2322	RAP1A	5906	HP:0000486	Strabismus
ORPHA:2322	RAP1A	5906	HP:0002119	Ventriculomegaly
ORPHA:2322	RAP1A	5906	HP:0000175	Cleft palate
ORPHA:2322	RAP1A	5906	HP:0009237	Short 5th finger
ORPHA:2322	RAP1A	5906	HP:0000252	Microcephaly
ORPHA:2322	RAP1A	5906	HP:0007655	Eversion of lateral third of lower eyelids
ORPHA:2322	RAP1A	5906	HP:0000400	Macrotia
ORPHA:2322	RAP1A	5906	HP:0001252	Muscular hypotonia
ORPHA:2322	RAP1A	5906	HP:0002719	Recurrent infections
ORPHA:2322	RAP1A	5906	HP:0004322	Short stature
ORPHA:2322	RAP1A	5906	HP:0003316	Butterfly vertebrae
ORPHA:2322	RAP1A	5906	HP:0005819	Short middle phalanx of finger
ORPHA:2322	RAP1A	5906	HP:0000687	Widely spaced teeth
ORPHA:2322	RAP1A	5906	HP:0000411	Protruding ear
ORPHA:2322	RAP1A	5906	HP:0001508	Failure to thrive
ORPHA:2322	RAP1A	5906	HP:0001671	Abnormality of the cardiac septa
ORPHA:2322	RAP1A	5906	HP:0000218	High palate
ORPHA:2322	RAP1A	5906	HP:0002650	Scoliosis
ORPHA:2322	RAP1A	5906	HP:0002937	Hemivertebrae
ORPHA:2322	RAP1A	5906	HP:0005338	Sparse lateral eyebrow
ORPHA:2322	RAP1A	5906	HP:0001680	Coarctation of aorta
ORPHA:2322	RAP1A	5906	HP:0000527	Long eyelashes
ORPHA:2322	RAP1A	5906	HP:0002000	Short columella
ORPHA:2322	RAP1A	5906	HP:0002553	Highly arched eyebrow
ORPHA:2322	RAP1A	5906	HP:0005692	Joint hyperflexibility
ORPHA:2322	RAP1A	5906	HP:0000668	Hypodontia
ORPHA:2322	RAP1A	5906	HP:0000691	Microdontia
ORPHA:2322	RAP1A	5906	HP:0007477	Abnormal dermatoglyphics
ORPHA:2322	RAP1A	5906	HP:0000405	Conductive hearing impairment
ORPHA:2322	RAP1A	5906	HP:0000407	Sensorineural hearing impairment
ORPHA:2322	RAP1A	5906	HP:0011968	Feeding difficulties
ORPHA:2322	RAP1B	5908	HP:0000508	Ptosis
ORPHA:2322	RAP1B	5908	HP:0002120	Cerebral cortical atrophy
ORPHA:2322	RAP1B	5908	HP:0000238	Hydrocephalus
ORPHA:2322	RAP1B	5908	HP:0000486	Strabismus
ORPHA:2322	RAP1B	5908	HP:0002119	Ventriculomegaly
ORPHA:2322	RAP1B	5908	HP:0000175	Cleft palate
ORPHA:2322	RAP1B	5908	HP:0009237	Short 5th finger
ORPHA:2322	RAP1B	5908	HP:0000252	Microcephaly
ORPHA:2322	RAP1B	5908	HP:0007655	Eversion of lateral third of lower eyelids
ORPHA:2322	RAP1B	5908	HP:0000400	Macrotia
ORPHA:2322	RAP1B	5908	HP:0001252	Muscular hypotonia
ORPHA:2322	RAP1B	5908	HP:0002719	Recurrent infections
ORPHA:2322	RAP1B	5908	HP:0004322	Short stature
ORPHA:2322	RAP1B	5908	HP:0003316	Butterfly vertebrae
ORPHA:2322	RAP1B	5908	HP:0005819	Short middle phalanx of finger
ORPHA:2322	RAP1B	5908	HP:0000687	Widely spaced teeth
ORPHA:2322	RAP1B	5908	HP:0000411	Protruding ear
ORPHA:2322	RAP1B	5908	HP:0001508	Failure to thrive
ORPHA:2322	RAP1B	5908	HP:0001671	Abnormality of the cardiac septa
ORPHA:2322	RAP1B	5908	HP:0000218	High palate
ORPHA:2322	RAP1B	5908	HP:0002650	Scoliosis
ORPHA:2322	RAP1B	5908	HP:0002937	Hemivertebrae
ORPHA:2322	RAP1B	5908	HP:0005338	Sparse lateral eyebrow
ORPHA:2322	RAP1B	5908	HP:0001680	Coarctation of aorta
ORPHA:2322	RAP1B	5908	HP:0000527	Long eyelashes
ORPHA:2322	RAP1B	5908	HP:0002000	Short columella
ORPHA:2322	RAP1B	5908	HP:0002553	Highly arched eyebrow
ORPHA:2322	RAP1B	5908	HP:0005692	Joint hyperflexibility
ORPHA:2322	RAP1B	5908	HP:0000668	Hypodontia
ORPHA:2322	RAP1B	5908	HP:0000691	Microdontia
ORPHA:2322	RAP1B	5908	HP:0007477	Abnormal dermatoglyphics
ORPHA:2322	RAP1B	5908	HP:0000405	Conductive hearing impairment
ORPHA:2322	RAP1B	5908	HP:0000407	Sensorineural hearing impairment
ORPHA:2322	RAP1B	5908	HP:0011968	Feeding difficulties
ORPHA:2322	KMT2D	8085	HP:0000508	Ptosis
ORPHA:2322	KMT2D	8085	HP:0002120	Cerebral cortical atrophy
ORPHA:2322	KMT2D	8085	HP:0000238	Hydrocephalus
ORPHA:2322	KMT2D	8085	HP:0000486	Strabismus
ORPHA:2322	KMT2D	8085	HP:0002119	Ventriculomegaly
ORPHA:2322	KMT2D	8085	HP:0000175	Cleft palate
ORPHA:2322	KMT2D	8085	HP:0009237	Short 5th finger
ORPHA:2322	KMT2D	8085	HP:0000252	Microcephaly
ORPHA:2322	KMT2D	8085	HP:0007655	Eversion of lateral third of lower eyelids
ORPHA:2322	KMT2D	8085	HP:0000400	Macrotia
ORPHA:2322	KMT2D	8085	HP:0001252	Muscular hypotonia
ORPHA:2322	KMT2D	8085	HP:0002719	Recurrent infections
ORPHA:2322	KMT2D	8085	HP:0004322	Short stature
ORPHA:2322	KMT2D	8085	HP:0003316	Butterfly vertebrae
ORPHA:2322	KMT2D	8085	HP:0005819	Short middle phalanx of finger
ORPHA:2322	KMT2D	8085	HP:0000687	Widely spaced teeth
ORPHA:2322	KMT2D	8085	HP:0000411	Protruding ear
ORPHA:2322	KMT2D	8085	HP:0001508	Failure to thrive
ORPHA:2322	KMT2D	8085	HP:0001671	Abnormality of the cardiac septa
ORPHA:2322	KMT2D	8085	HP:0000218	High palate
ORPHA:2322	KMT2D	8085	HP:0002650	Scoliosis
ORPHA:2322	KMT2D	8085	HP:0002937	Hemivertebrae
ORPHA:2322	KMT2D	8085	HP:0005338	Sparse lateral eyebrow
ORPHA:2322	KMT2D	8085	HP:0001680	Coarctation of aorta
ORPHA:2322	KMT2D	8085	HP:0000527	Long eyelashes
ORPHA:2322	KMT2D	8085	HP:0002000	Short columella
ORPHA:2322	KMT2D	8085	HP:0002553	Highly arched eyebrow
ORPHA:2322	KMT2D	8085	HP:0005692	Joint hyperflexibility
ORPHA:2322	KMT2D	8085	HP:0000668	Hypodontia
ORPHA:2322	KMT2D	8085	HP:0000691	Microdontia
ORPHA:2322	KMT2D	8085	HP:0007477	Abnormal dermatoglyphics
ORPHA:2322	KMT2D	8085	HP:0000405	Conductive hearing impairment
ORPHA:2322	KMT2D	8085	HP:0000407	Sensorineural hearing impairment
ORPHA:2322	KMT2D	8085	HP:0011968	Feeding difficulties
ORPHA:2322	KDM6A	7403	HP:0000508	Ptosis
ORPHA:2322	KDM6A	7403	HP:0002120	Cerebral cortical atrophy
ORPHA:2322	KDM6A	7403	HP:0000238	Hydrocephalus
ORPHA:2322	KDM6A	7403	HP:0000486	Strabismus
ORPHA:2322	KDM6A	7403	HP:0002119	Ventriculomegaly
ORPHA:2322	KDM6A	7403	HP:0000175	Cleft palate
ORPHA:2322	KDM6A	7403	HP:0009237	Short 5th finger
ORPHA:2322	KDM6A	7403	HP:0000252	Microcephaly
ORPHA:2322	KDM6A	7403	HP:0007655	Eversion of lateral third of lower eyelids
ORPHA:2322	KDM6A	7403	HP:0000400	Macrotia
ORPHA:2322	KDM6A	7403	HP:0001252	Muscular hypotonia
ORPHA:2322	KDM6A	7403	HP:0002719	Recurrent infections
ORPHA:2322	KDM6A	7403	HP:0004322	Short stature
ORPHA:2322	KDM6A	7403	HP:0003316	Butterfly vertebrae
ORPHA:2322	KDM6A	7403	HP:0005819	Short middle phalanx of finger
ORPHA:2322	KDM6A	7403	HP:0000687	Widely spaced teeth
ORPHA:2322	KDM6A	7403	HP:0000411	Protruding ear
ORPHA:2322	KDM6A	7403	HP:0001508	Failure to thrive
ORPHA:2322	KDM6A	7403	HP:0001671	Abnormality of the cardiac septa
ORPHA:2322	KDM6A	7403	HP:0000218	High palate
ORPHA:2322	KDM6A	7403	HP:0002650	Scoliosis
ORPHA:2322	KDM6A	7403	HP:0002937	Hemivertebrae
ORPHA:2322	KDM6A	7403	HP:0005338	Sparse lateral eyebrow
ORPHA:2322	KDM6A	7403	HP:0001680	Coarctation of aorta
ORPHA:2322	KDM6A	7403	HP:0000527	Long eyelashes
ORPHA:2322	KDM6A	7403	HP:0002000	Short columella
ORPHA:2322	KDM6A	7403	HP:0002553	Highly arched eyebrow
ORPHA:2322	KDM6A	7403	HP:0005692	Joint hyperflexibility
ORPHA:2322	KDM6A	7403	HP:0000668	Hypodontia
ORPHA:2322	KDM6A	7403	HP:0000691	Microdontia
ORPHA:2322	KDM6A	7403	HP:0007477	Abnormal dermatoglyphics
ORPHA:2322	KDM6A	7403	HP:0000405	Conductive hearing impairment
ORPHA:2322	KDM6A	7403	HP:0000407	Sensorineural hearing impairment
ORPHA:2322	KDM6A	7403	HP:0011968	Feeding difficulties
ORPHA:33445	MYO5A	4644	HP:0000545	Myopia
ORPHA:33445	MYO5A	4644	HP:0001252	Muscular hypotonia
ORPHA:33445	MYO5A	4644	HP:0001337	Tremor
ORPHA:33445	MYO5A	4644	HP:0001263	Global developmental delay
ORPHA:33445	MYO5A	4644	HP:0001010	Hypopigmentation of the skin
ORPHA:33445	MYO5A	4644	HP:0001249	Intellectual disability
ORPHA:33445	MYO5A	4644	HP:0001328	Specific learning disability
ORPHA:33445	MYO5A	4644	HP:0005599	Hypopigmentation of hair
ORPHA:33445	MYO5A	4644	HP:0002216	Premature graying of hair
ORPHA:33445	MYO5A	4644	HP:0001250	Seizures
ORPHA:261483	FMR1	2332	HP:0000414	Bulbous nose
ORPHA:261483	FMR1	2332	HP:0008734	Decreased testicular size
ORPHA:261483	FMR1	2332	HP:0002750	Delayed skeletal maturation
ORPHA:261483	FMR1	2332	HP:0000028	Cryptorchidism
ORPHA:261483	FMR1	2332	HP:0000490	Deeply set eye
ORPHA:261483	FMR1	2332	HP:0000233	Thin vermilion border
ORPHA:261483	FMR1	2332	HP:0002231	Sparse body hair
ORPHA:261483	FMR1	2332	HP:0200055	Small hand
ORPHA:261483	FMR1	2332	HP:0001252	Muscular hypotonia
ORPHA:261483	FMR1	2332	HP:0001773	Short foot
ORPHA:261483	FMR1	2332	HP:0000771	Gynecomastia
ORPHA:261483	FMR1	2332	HP:0001620	High pitched voice
ORPHA:261483	FMR1	2332	HP:0001956	Truncal obesity
ORPHA:261483	FMR1	2332	HP:0001508	Failure to thrive
ORPHA:261483	FMR1	2332	HP:0000135	Hypogonadism
ORPHA:261483	FMR1	2332	HP:0001256	Intellectual disability, mild
ORPHA:261483	FMR1	2332	HP:0001263	Global developmental delay
ORPHA:261483	FMR1	2332	HP:0001511	Intrauterine growth retardation
ORPHA:261483	FMR1	2332	HP:0004322	Short stature
ORPHA:250977	ATIC	471	HP:0011220	Prominent forehead
ORPHA:250977	ATIC	471	HP:0000219	Thin upper lip vermilion
ORPHA:250977	ATIC	471	HP:0007875	Congenital blindness
ORPHA:250977	ATIC	471	HP:0000248	Brachycephaly
ORPHA:250977	ATIC	471	HP:0008665	Clitoral hypertrophy
ORPHA:250977	ATIC	471	HP:0001250	Seizures
ORPHA:250977	ATIC	471	HP:0000063	Fused labia minora
ORPHA:250977	ATIC	471	HP:0000154	Wide mouth
ORPHA:250977	ATIC	471	HP:0000369	Low-set ears
ORPHA:250977	ATIC	471	HP:0010864	Intellectual disability, severe
ORPHA:91347	CDH23	64072	HP:0000868	Decreased fertility in females
ORPHA:91347	CDH23	64072	HP:0002920	Decreased circulating ACTH level
ORPHA:91347	CDH23	64072	HP:0001337	Tremor
ORPHA:91347	CDH23	64072	HP:0000140	Abnormality of the menstrual cycle
ORPHA:91347	CDH23	64072	HP:0002615	Hypotension
ORPHA:91347	CDH23	64072	HP:0000134	Female hypogonadism
ORPHA:91347	CDH23	64072	HP:0000939	Osteoporosis
ORPHA:91347	CDH23	64072	HP:0002013	Vomiting
ORPHA:91347	CDH23	64072	HP:0002315	Headache
ORPHA:91347	CDH23	64072	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:91347	CDH23	64072	HP:0001962	Palpitations
ORPHA:91347	CDH23	64072	HP:0012041	Decreased fertility in males
ORPHA:91347	CDH23	64072	HP:0000529	Progressive visual loss
ORPHA:91347	CDH23	64072	HP:0000975	Hyperhidrosis
ORPHA:91347	CDH23	64072	HP:0012378	Fatigue
ORPHA:91347	CDH23	64072	HP:0012505	Enlarged pituitary gland
ORPHA:91347	CDH23	64072	HP:0000980	Pallor
ORPHA:91347	CDH23	64072	HP:0003388	Easy fatigability
ORPHA:91347	CDH23	64072	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:91347	CDH23	64072	HP:0000853	Goiter
ORPHA:91347	CDH23	64072	HP:0000938	Osteopenia
ORPHA:91347	CDH23	64072	HP:0011357	Abnormality of hair density
ORPHA:91347	CDH23	64072	HP:0011748	Adrenocorticotropic hormone deficiency
ORPHA:91347	CDH23	64072	HP:0008240	Secondary growth hormone deficiency
ORPHA:91347	CDH23	64072	HP:0000802	Impotence
ORPHA:91347	CDH23	64072	HP:0030018	Decreased female libido
ORPHA:91347	CDH23	64072	HP:0001824	Weight loss
ORPHA:91347	CDH23	64072	HP:0000771	Gynecomastia
ORPHA:91347	CDH23	64072	HP:0000026	Male hypogonadism
ORPHA:91347	CDH23	64072	HP:0011782	Thyroid crisis
ORPHA:91347	CDH23	64072	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:614845	CEP164	22897	HP:0000546	Retinal degeneration
OMIM:614845	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:614845	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:614845	CEP164	22897	HP:0003812	Phenotypic variability
OMIM:153640	MYH9	4627	HP:0001902	Giant platelets
OMIM:153640	MYH9	4627	HP:0001757	High-frequency sensorineural hearing impairment
OMIM:153640	MYH9	4627	HP:0000132	Menorrhagia
OMIM:153640	MYH9	4627	HP:0000093	Proteinuria
OMIM:153640	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:153640	MYH9	4627	HP:0000123	Nephritis
OMIM:153640	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:153640	MYH9	4627	HP:0000519	Congenital cataract
OMIM:153640	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:153640	MYH9	4627	HP:0040235	Leukocyte inclusion bodies
OMIM:153640	MYH9	4627	HP:0000790	Hematuria
OMIM:153640	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:153640	MYH9	4627	HP:0003774	Stage 5 chronic kidney disease
OMIM:159001	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:159001	LMNA	4000	HP:0002355	Difficulty walking
OMIM:159001	LMNA	4000	HP:0003458	EMG: myopathic abnormalities
OMIM:159001	LMNA	4000	HP:0001662	Bradycardia
OMIM:159001	LMNA	4000	HP:0003551	Difficulty climbing stairs
OMIM:159001	LMNA	4000	HP:0001371	Flexion contracture
OMIM:159001	LMNA	4000	HP:0008946	Pelvic girdle amyotrophy
OMIM:159001	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:159001	LMNA	4000	HP:0003547	Shoulder girdle muscle weakness
OMIM:159001	LMNA	4000	HP:0001425	Heterogeneous
OMIM:159001	LMNA	4000	HP:0003677	Slow progression
OMIM:159001	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:159001	LMNA	4000	HP:0001692	Primary atrial arrhythmia
OMIM:159001	LMNA	4000	HP:0005150	Abnormal atrioventricular conduction
OMIM:159001	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:159001	LMNA	4000	HP:0003749	Pelvic girdle muscle weakness
OMIM:159001	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608971	IL7R	3575	HP:0000388	Otitis media
OMIM:608971	IL7R	3575	HP:0005390	Recurrent opportunistic infections
OMIM:608971	IL7R	3575	HP:0000007	Autosomal recessive inheritance
OMIM:608971	IL7R	3575	HP:0002716	Lymphadenopathy
OMIM:608971	IL7R	3575	HP:0008866	Failure to thrive secondary to recurrent infections
OMIM:608971	IL7R	3575	HP:0002240	Hepatomegaly
OMIM:608971	IL7R	3575	HP:0000964	Eczema
OMIM:608971	IL7R	3575	HP:0005403	Decrease in T cell count
OMIM:608971	IL7R	3575	HP:0001744	Splenomegaly
OMIM:608971	IL7R	3575	HP:0002014	Diarrhea
OMIM:608971	IL7R	3575	HP:0000155	Oral ulcer
OMIM:608971	IL7R	3575	HP:0004430	Severe combined immunodeficiency
OMIM:608971	PTPRC	5788	HP:0000388	Otitis media
OMIM:608971	PTPRC	5788	HP:0005390	Recurrent opportunistic infections
OMIM:608971	PTPRC	5788	HP:0000007	Autosomal recessive inheritance
OMIM:608971	PTPRC	5788	HP:0002716	Lymphadenopathy
OMIM:608971	PTPRC	5788	HP:0008866	Failure to thrive secondary to recurrent infections
OMIM:608971	PTPRC	5788	HP:0002240	Hepatomegaly
OMIM:608971	PTPRC	5788	HP:0000964	Eczema
OMIM:608971	PTPRC	5788	HP:0005403	Decrease in T cell count
OMIM:608971	PTPRC	5788	HP:0001744	Splenomegaly
OMIM:608971	PTPRC	5788	HP:0002014	Diarrhea
OMIM:608971	PTPRC	5788	HP:0000155	Oral ulcer
OMIM:608971	PTPRC	5788	HP:0004430	Severe combined immunodeficiency
OMIM:614723	APRT	353	HP:0000083	Renal insufficiency
OMIM:614723	APRT	353	HP:0000787	Nephrolithiasis
OMIM:614723	APRT	353	HP:0000007	Autosomal recessive inheritance
ORPHA:104	COX1	4512	HP:0000576	Centrocecal scotoma
ORPHA:104	COX1	4512	HP:0007924	Slow decrease in visual acuity
ORPHA:104	COX1	4512	HP:0000622	Blurred vision
ORPHA:104	COX1	4512	HP:0000603	Central scotoma
ORPHA:104	COX1	4512	HP:0012841	Retinal vascular tortuosity
ORPHA:104	COX1	4512	HP:0007763	Retinal telangiectasia
ORPHA:104	COX1	4512	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	COX1	4512	HP:0000648	Optic atrophy
ORPHA:104	NDUFS2	4720	HP:0000576	Centrocecal scotoma
ORPHA:104	NDUFS2	4720	HP:0007924	Slow decrease in visual acuity
ORPHA:104	NDUFS2	4720	HP:0000622	Blurred vision
ORPHA:104	NDUFS2	4720	HP:0000603	Central scotoma
ORPHA:104	NDUFS2	4720	HP:0012841	Retinal vascular tortuosity
ORPHA:104	NDUFS2	4720	HP:0007763	Retinal telangiectasia
ORPHA:104	NDUFS2	4720	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	NDUFS2	4720	HP:0000648	Optic atrophy
ORPHA:104	COX3	4514	HP:0000576	Centrocecal scotoma
ORPHA:104	COX3	4514	HP:0007924	Slow decrease in visual acuity
ORPHA:104	COX3	4514	HP:0000622	Blurred vision
ORPHA:104	COX3	4514	HP:0000603	Central scotoma
ORPHA:104	COX3	4514	HP:0012841	Retinal vascular tortuosity
ORPHA:104	COX3	4514	HP:0007763	Retinal telangiectasia
ORPHA:104	COX3	4514	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	COX3	4514	HP:0000648	Optic atrophy
ORPHA:104	CYTB	4519	HP:0000576	Centrocecal scotoma
ORPHA:104	CYTB	4519	HP:0007924	Slow decrease in visual acuity
ORPHA:104	CYTB	4519	HP:0000622	Blurred vision
ORPHA:104	CYTB	4519	HP:0000603	Central scotoma
ORPHA:104	CYTB	4519	HP:0012841	Retinal vascular tortuosity
ORPHA:104	CYTB	4519	HP:0007763	Retinal telangiectasia
ORPHA:104	CYTB	4519	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	CYTB	4519	HP:0000648	Optic atrophy
ORPHA:104	ND1	4535	HP:0000576	Centrocecal scotoma
ORPHA:104	ND1	4535	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND1	4535	HP:0000622	Blurred vision
ORPHA:104	ND1	4535	HP:0000603	Central scotoma
ORPHA:104	ND1	4535	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND1	4535	HP:0007763	Retinal telangiectasia
ORPHA:104	ND1	4535	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND1	4535	HP:0000648	Optic atrophy
ORPHA:104	ND2	4536	HP:0000576	Centrocecal scotoma
ORPHA:104	ND2	4536	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND2	4536	HP:0000622	Blurred vision
ORPHA:104	ND2	4536	HP:0000603	Central scotoma
ORPHA:104	ND2	4536	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND2	4536	HP:0007763	Retinal telangiectasia
ORPHA:104	ND2	4536	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND2	4536	HP:0000648	Optic atrophy
ORPHA:104	ND4	4538	HP:0000576	Centrocecal scotoma
ORPHA:104	ND4	4538	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND4	4538	HP:0000622	Blurred vision
ORPHA:104	ND4	4538	HP:0000603	Central scotoma
ORPHA:104	ND4	4538	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND4	4538	HP:0007763	Retinal telangiectasia
ORPHA:104	ND4	4538	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND4	4538	HP:0000648	Optic atrophy
ORPHA:104	ND4L	4539	HP:0000576	Centrocecal scotoma
ORPHA:104	ND4L	4539	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND4L	4539	HP:0000622	Blurred vision
ORPHA:104	ND4L	4539	HP:0000603	Central scotoma
ORPHA:104	ND4L	4539	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND4L	4539	HP:0007763	Retinal telangiectasia
ORPHA:104	ND4L	4539	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND4L	4539	HP:0000648	Optic atrophy
ORPHA:104	ATP6	4508	HP:0000576	Centrocecal scotoma
ORPHA:104	ATP6	4508	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ATP6	4508	HP:0000622	Blurred vision
ORPHA:104	ATP6	4508	HP:0000603	Central scotoma
ORPHA:104	ATP6	4508	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ATP6	4508	HP:0007763	Retinal telangiectasia
ORPHA:104	ATP6	4508	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ATP6	4508	HP:0000648	Optic atrophy
ORPHA:104	ND5	4540	HP:0000576	Centrocecal scotoma
ORPHA:104	ND5	4540	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND5	4540	HP:0000622	Blurred vision
ORPHA:104	ND5	4540	HP:0000603	Central scotoma
ORPHA:104	ND5	4540	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND5	4540	HP:0007763	Retinal telangiectasia
ORPHA:104	ND5	4540	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND5	4540	HP:0000648	Optic atrophy
ORPHA:104	ND6	4541	HP:0000576	Centrocecal scotoma
ORPHA:104	ND6	4541	HP:0007924	Slow decrease in visual acuity
ORPHA:104	ND6	4541	HP:0000622	Blurred vision
ORPHA:104	ND6	4541	HP:0000603	Central scotoma
ORPHA:104	ND6	4541	HP:0012841	Retinal vascular tortuosity
ORPHA:104	ND6	4541	HP:0007763	Retinal telangiectasia
ORPHA:104	ND6	4541	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:104	ND6	4541	HP:0000648	Optic atrophy
ORPHA:100924	ALAD	210	HP:0000709	Psychosis
ORPHA:100924	ALAD	210	HP:0002027	Abdominal pain
ORPHA:100924	ALAD	210	HP:0002014	Diarrhea
ORPHA:100924	ALAD	210	HP:0002019	Constipation
ORPHA:100924	ALAD	210	HP:0001271	Polyneuropathy
ORPHA:2065	WDR73	84942	HP:0001250	Seizures
ORPHA:2065	WDR73	84942	HP:0001622	Premature birth
ORPHA:2065	WDR73	84942	HP:0002353	EEG abnormality
ORPHA:2065	WDR73	84942	HP:0002036	Hiatus hernia
ORPHA:2065	WDR73	84942	HP:0100543	Cognitive impairment
ORPHA:2065	WDR73	84942	HP:0000400	Macrotia
ORPHA:2065	WDR73	84942	HP:0000100	Nephrotic syndrome
ORPHA:2065	WDR73	84942	HP:0001511	Intrauterine growth retardation
ORPHA:2065	WDR73	84942	HP:0000093	Proteinuria
ORPHA:2065	WDR73	84942	HP:0001263	Global developmental delay
ORPHA:2065	WDR73	84942	HP:0000252	Microcephaly
ORPHA:2065	WDR73	84942	HP:0001302	Pachygyria
ORPHA:2065	WDR73	84942	HP:0004322	Short stature
ORPHA:2065	WDR73	84942	HP:0000112	Nephropathy
ORPHA:2065	WDR73	84942	HP:0100720	Hypoplasia of the ear cartilage
OMIM:616651	RNU4ATAC	100151683	HP:0004322	Short stature
OMIM:616651	RNU4ATAC	100151683	HP:0000007	Autosomal recessive inheritance
OMIM:616651	RNU4ATAC	100151683	HP:0001156	Brachydactyly
OMIM:616651	RNU4ATAC	100151683	HP:0000494	Downslanted palpebral fissures
OMIM:616651	RNU4ATAC	100151683	HP:0000637	Long palpebral fissure
OMIM:616651	RNU4ATAC	100151683	HP:0001256	Intellectual disability, mild
OMIM:616651	RNU4ATAC	100151683	HP:0001622	Premature birth
OMIM:616651	RNU4ATAC	100151683	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:616651	RNU4ATAC	100151683	HP:0003273	Hip contracture
OMIM:616651	RNU4ATAC	100151683	HP:0000430	Underdeveloped nasal alae
OMIM:616651	RNU4ATAC	100151683	HP:0001290	Generalized hypotonia
OMIM:616651	RNU4ATAC	100151683	HP:0002714	Downturned corners of mouth
OMIM:616651	RNU4ATAC	100151683	HP:0001880	Eosinophilia
OMIM:616651	RNU4ATAC	100151683	HP:0006361	Irregular femoral epiphysis
OMIM:616651	RNU4ATAC	100151683	HP:0000403	Recurrent otitis media
OMIM:616651	RNU4ATAC	100151683	HP:0001744	Splenomegaly
OMIM:616651	RNU4ATAC	100151683	HP:0002240	Hepatomegaly
OMIM:616651	RNU4ATAC	100151683	HP:0001831	Short toe
OMIM:616651	RNU4ATAC	100151683	HP:0002716	Lymphadenopathy
OMIM:616651	RNU4ATAC	100151683	HP:0004625	Biconvex vertebral bodies
OMIM:616651	RNU4ATAC	100151683	HP:0006532	Recurrent pneumonia
OMIM:616651	RNU4ATAC	100151683	HP:0003301	Irregular vertebral endplates
OMIM:149400	GPHN	10243	HP:0001250	Seizures
OMIM:149400	GPHN	10243	HP:0002359	Frequent falls
OMIM:149400	GPHN	10243	HP:0000007	Autosomal recessive inheritance
OMIM:149400	GPHN	10243	HP:0002835	Aspiration
OMIM:149400	GPHN	10243	HP:0001276	Hypertonia
OMIM:149400	GPHN	10243	HP:0001537	Umbilical hernia
OMIM:149400	GPHN	10243	HP:0003593	Infantile onset
OMIM:149400	GPHN	10243	HP:0002104	Apnea
OMIM:149400	GPHN	10243	HP:0000006	Autosomal dominant inheritance
OMIM:149400	GPHN	10243	HP:0002827	Hip dislocation
OMIM:149400	GPHN	10243	HP:0002267	Exaggerated startle response
OMIM:149400	GPHN	10243	HP:0000023	Inguinal hernia
OMIM:149400	GPHN	10243	HP:0001336	Myoclonus
OMIM:149400	GPHN	10243	HP:0002375	Hypokinesia
OMIM:149400	GLRA1	2741	HP:0001250	Seizures
OMIM:149400	GLRA1	2741	HP:0002359	Frequent falls
OMIM:149400	GLRA1	2741	HP:0000007	Autosomal recessive inheritance
OMIM:149400	GLRA1	2741	HP:0002835	Aspiration
OMIM:149400	GLRA1	2741	HP:0001276	Hypertonia
OMIM:149400	GLRA1	2741	HP:0001537	Umbilical hernia
OMIM:149400	GLRA1	2741	HP:0003593	Infantile onset
OMIM:149400	GLRA1	2741	HP:0002104	Apnea
OMIM:149400	GLRA1	2741	HP:0000006	Autosomal dominant inheritance
OMIM:149400	GLRA1	2741	HP:0002827	Hip dislocation
OMIM:149400	GLRA1	2741	HP:0002267	Exaggerated startle response
OMIM:149400	GLRA1	2741	HP:0000023	Inguinal hernia
OMIM:149400	GLRA1	2741	HP:0001336	Myoclonus
OMIM:149400	GLRA1	2741	HP:0002375	Hypokinesia
OMIM:615724	HFM1	164045	HP:0000837	Increased circulating gonadotropin level
OMIM:615724	HFM1	164045	HP:0000007	Autosomal recessive inheritance
OMIM:615724	HFM1	164045	HP:0000141	Amenorrhea
OMIM:615724	HFM1	164045	HP:0008209	Premature ovarian insufficiency
ORPHA:797	HLA-DRB1	3123	HP:0100749	Chest pain
ORPHA:797	HLA-DRB1	3123	HP:0001824	Weight loss
ORPHA:797	HLA-DRB1	3123	HP:0001386	Joint swelling
ORPHA:797	HLA-DRB1	3123	HP:0001873	Thrombocytopenia
ORPHA:797	HLA-DRB1	3123	HP:0012219	Erythema nodosum
ORPHA:797	HLA-DRB1	3123	HP:0100828	Increase in T cell count
ORPHA:797	HLA-DRB1	3123	HP:0001882	Leukopenia
ORPHA:797	HLA-DRB1	3123	HP:0002094	Dyspnea
ORPHA:797	HLA-DRB1	3123	HP:0012735	Cough
ORPHA:797	HLA-DRB1	3123	HP:0001945	Fever
ORPHA:797	HLA-DRB1	3123	HP:0000554	Uveitis
ORPHA:797	HLA-DRB1	3123	HP:0012378	Fatigue
ORPHA:797	BTNL2	56244	HP:0100749	Chest pain
ORPHA:797	BTNL2	56244	HP:0001824	Weight loss
ORPHA:797	BTNL2	56244	HP:0001386	Joint swelling
ORPHA:797	BTNL2	56244	HP:0001873	Thrombocytopenia
ORPHA:797	BTNL2	56244	HP:0012219	Erythema nodosum
ORPHA:797	BTNL2	56244	HP:0100828	Increase in T cell count
ORPHA:797	BTNL2	56244	HP:0001882	Leukopenia
ORPHA:797	BTNL2	56244	HP:0002094	Dyspnea
ORPHA:797	BTNL2	56244	HP:0012735	Cough
ORPHA:797	BTNL2	56244	HP:0001945	Fever
ORPHA:797	BTNL2	56244	HP:0000554	Uveitis
ORPHA:797	BTNL2	56244	HP:0012378	Fatigue
OMIM:606367	IL2RA	3559	HP:0000007	Autosomal recessive inheritance
OMIM:606367	IL2RA	3559	HP:0001744	Splenomegaly
OMIM:606367	IL2RA	3559	HP:0002240	Hepatomegaly
OMIM:606367	IL2RA	3559	HP:0002205	Recurrent respiratory infections
OMIM:606367	IL2RA	3559	HP:0002841	Recurrent fungal infections
OMIM:606367	IL2RA	3559	HP:0001890	Autoimmune hemolytic anemia
OMIM:606367	IL2RA	3559	HP:0011473	Villous atrophy
OMIM:606367	IL2RA	3559	HP:0001596	Alopecia
OMIM:606367	IL2RA	3559	HP:0001433	Hepatosplenomegaly
OMIM:606367	IL2RA	3559	HP:0002721	Immunodeficiency
OMIM:606367	IL2RA	3559	HP:0000964	Eczema
OMIM:606367	IL2RA	3559	HP:0002716	Lymphadenopathy
OMIM:606367	IL2RA	3559	HP:0005403	Decrease in T cell count
OMIM:606367	IL2RA	3559	HP:0002718	Recurrent bacterial infections
OMIM:606367	IL2RA	3559	HP:0002028	Chronic diarrhea
OMIM:606367	IL2RA	3559	HP:0004429	Recurrent viral infections
OMIM:606367	IL2RA	3559	HP:0002720	IgA deficiency
OMIM:616118	FBN2	2201	HP:0007663	Reduced visual acuity
OMIM:616118	FBN2	2201	HP:0000006	Autosomal dominant inheritance
OMIM:616118	FBN2	2201	HP:0000505	Visual impairment
OMIM:616118	FBN2	2201	HP:0000608	Macular degeneration
OMIM:177850	ABCC6	368	HP:0000006	Autosomal dominant inheritance
OMIM:177850	ABCC6	368	HP:0000505	Visual impairment
OMIM:177850	ABCC6	368	HP:0002808	Kyphosis
OMIM:177850	ABCC6	368	HP:0004966	Medial calcification of large arteries
OMIM:177850	ABCC6	368	HP:0002650	Scoliosis
OMIM:177850	ABCC6	368	HP:0025533	Peau d'orange
OMIM:177850	ABCC6	368	HP:0001681	Angina pectoris
OMIM:177850	ABCC6	368	HP:0012457	Medial calcification of medium-sized arteries
OMIM:177850	ABCC6	368	HP:0002239	Gastrointestinal hemorrhage
OMIM:177850	ABCC6	368	HP:0001342	Cerebral hemorrhage
OMIM:177850	ABCC6	368	HP:0025507	Yellow papule
OMIM:177850	ABCC6	368	HP:0000573	Retinal hemorrhage
OMIM:177850	ABCC6	368	HP:0000608	Macular degeneration
OMIM:177850	ABCC6	368	HP:0000766	Abnormality of the sternum
OMIM:177850	ABCC6	368	HP:0000218	High palate
OMIM:177850	ABCC6	368	HP:0001102	Angioid streaks of the retina
OMIM:177850	ABCC6	368	HP:0000545	Myopia
OMIM:177850	ABCC6	368	HP:0007663	Reduced visual acuity
OMIM:177850	ABCC6	368	HP:0005297	Premature occlusive vascular stenosis
OMIM:177850	ABCC6	368	HP:0000592	Blue sclerae
OMIM:177850	ABCC6	368	HP:0001634	Mitral valve prolapse
OMIM:177850	ABCC6	368	HP:0002705	High, narrow palate
OMIM:177850	ABCC6	368	HP:0005462	Calcification of falx cerebri
OMIM:615539	DSE	29940	HP:0000023	Inguinal hernia
OMIM:615539	DSE	29940	HP:0001655	Patent foramen ovale
OMIM:615539	DSE	29940	HP:0001181	Adducted thumb
OMIM:615539	DSE	29940	HP:0001762	Talipes equinovarus
OMIM:615539	DSE	29940	HP:0000411	Protruding ear
OMIM:615539	DSE	29940	HP:0000592	Blue sclerae
OMIM:615539	DSE	29940	HP:0000007	Autosomal recessive inheritance
OMIM:615539	DSE	29940	HP:0002007	Frontal bossing
OMIM:615539	DSE	29940	HP:0002194	Delayed gross motor development
OMIM:615539	DSE	29940	HP:0000506	Telecanthus
OMIM:615539	DSE	29940	HP:0001166	Arachnodactyly
OMIM:615539	DSE	29940	HP:0003324	Generalized muscle weakness
OMIM:615539	DSE	29940	HP:0000248	Brachycephaly
OMIM:615539	DSE	29940	HP:0000218	High palate
OMIM:615539	DSE	29940	HP:0000494	Downslanted palpebral fissures
OMIM:615539	DSE	29940	HP:0000678	Dental crowding
OMIM:300849	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300849	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300849	GDI1	2664	HP:0001423	X-linked dominant inheritance
OMIM:300849	GDI1	2664	HP:0001290	Generalized hypotonia
OMIM:300849	GDI1	2664	HP:0001263	Global developmental delay
OMIM:613707	BRAF	673	HP:0001250	Seizures
OMIM:613707	BRAF	673	HP:0001249	Intellectual disability
OMIM:613707	BRAF	673	HP:0001510	Growth delay
OMIM:613707	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:613707	BRAF	673	HP:0000470	Short neck
OMIM:613707	BRAF	673	HP:0001319	Neonatal hypotonia
OMIM:613707	BRAF	673	HP:0007565	Multiple cafe-au-lait spots
OMIM:613707	BRAF	673	HP:0000407	Sensorineural hearing impairment
OMIM:613707	BRAF	673	HP:0004322	Short stature
OMIM:613707	BRAF	673	HP:0000914	Shield chest
OMIM:613707	BRAF	673	HP:0001054	Numerous nevi
OMIM:613707	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:613707	BRAF	673	HP:0000369	Low-set ears
OMIM:613707	BRAF	673	HP:0000316	Hypertelorism
OMIM:613707	BRAF	673	HP:0000465	Webbed neck
OMIM:613707	BRAF	673	HP:0001646	Abnormality of the aortic valve
OMIM:613707	BRAF	673	HP:0001636	Tetralogy of Fallot
OMIM:613707	BRAF	673	HP:0001003	Multiple lentigines
OMIM:613707	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:613707	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:613707	BRAF	673	HP:0001633	Abnormality of the mitral valve
OMIM:613707	BRAF	673	HP:0002750	Delayed skeletal maturation
OMIM:300960	EBP	10682	HP:0000218	High palate
OMIM:300960	EBP	10682	HP:0001845	Overlapping toe
OMIM:300960	EBP	10682	HP:0001650	Aortic valve stenosis
OMIM:300960	EBP	10682	HP:0008064	Ichthyosis
OMIM:300960	EBP	10682	HP:0011800	Midface retrusion
OMIM:300960	EBP	10682	HP:0100807	Long fingers
OMIM:300960	EBP	10682	HP:0000426	Prominent nasal bridge
OMIM:300960	EBP	10682	HP:0000752	Hyperactivity
OMIM:300960	EBP	10682	HP:0004691	2-3 toe syndactyly
OMIM:300960	EBP	10682	HP:0001290	Generalized hypotonia
OMIM:300960	EBP	10682	HP:0004322	Short stature
OMIM:300960	EBP	10682	HP:0001250	Seizures
OMIM:300960	EBP	10682	HP:0000518	Cataract
OMIM:300960	EBP	10682	HP:0000369	Low-set ears
OMIM:300960	EBP	10682	HP:0010442	Polydactyly
OMIM:300960	EBP	10682	HP:0010557	Overlapping fingers
OMIM:300960	EBP	10682	HP:0000308	Microretrognathia
OMIM:300960	EBP	10682	HP:0003812	Phenotypic variability
OMIM:300960	EBP	10682	HP:0000238	Hydrocephalus
OMIM:300960	EBP	10682	HP:0001249	Intellectual disability
OMIM:300960	EBP	10682	HP:0001305	Dandy-Walker malformation
OMIM:300960	EBP	10682	HP:0000028	Cryptorchidism
OMIM:300960	EBP	10682	HP:0001263	Global developmental delay
OMIM:300960	EBP	10682	HP:0001419	X-linked recessive inheritance
OMIM:613679	F2	2147	HP:0000225	Gingival bleeding
OMIM:613679	F2	2147	HP:0003577	Congenital onset
OMIM:613679	F2	2147	HP:0003828	Variable expressivity
OMIM:613679	F2	2147	HP:0002239	Gastrointestinal hemorrhage
OMIM:613679	F2	2147	HP:0000421	Epistaxis
OMIM:613679	F2	2147	HP:0003645	Prolonged partial thromboplastin time
OMIM:613679	F2	2147	HP:0005261	Joint hemorrhage
OMIM:613679	F2	2147	HP:0012201	Reduced prothrombin activity
OMIM:613679	F2	2147	HP:0008151	Prolonged prothrombin time
OMIM:613679	F2	2147	HP:0000007	Autosomal recessive inheritance
OMIM:613679	F2	2147	HP:0000978	Bruising susceptibility
OMIM:613679	F2	2147	HP:0003010	Prolonged bleeding time
OMIM:613679	F2	2147	HP:0000132	Menorrhagia
ORPHA:2237	GATA3	2625	HP:0000126	Hydronephrosis
ORPHA:2237	GATA3	2625	HP:0002199	Hypocalcemic seizures
ORPHA:2237	GATA3	2625	HP:0000122	Unilateral renal agenesis
ORPHA:2237	GATA3	2625	HP:0000829	Hypoparathyroidism
ORPHA:2237	GATA3	2625	HP:0000076	Vesicoureteral reflux
ORPHA:2237	GATA3	2625	HP:0000083	Renal insufficiency
ORPHA:2237	GATA3	2625	HP:0000110	Renal dysplasia
ORPHA:2237	GATA3	2625	HP:0000113	Polycystic kidney dysplasia
ORPHA:2237	GATA3	2625	HP:0000408	Progressive sensorineural hearing impairment
ORPHA:2237	GATA3	2625	HP:0000860	Parathyroid hypoplasia
OMIM:613659	ERBB2	2064	HP:0001428	Somatic mutation
OMIM:613659	ERBB2	2064	HP:0012126	Stomach cancer
OMIM:613659	MUTYH	4595	HP:0001428	Somatic mutation
OMIM:613659	MUTYH	4595	HP:0012126	Stomach cancer
OMIM:613659	KLF6	1316	HP:0001428	Somatic mutation
OMIM:613659	KLF6	1316	HP:0012126	Stomach cancer
OMIM:613659	APC	324	HP:0001428	Somatic mutation
OMIM:613659	APC	324	HP:0012126	Stomach cancer
OMIM:613659	FGFR2	2263	HP:0001428	Somatic mutation
OMIM:613659	FGFR2	2263	HP:0012126	Stomach cancer
OMIM:613659	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:613659	PIK3CA	5290	HP:0012126	Stomach cancer
OMIM:613659	IRF1	3659	HP:0001428	Somatic mutation
OMIM:613659	IRF1	3659	HP:0012126	Stomach cancer
OMIM:613659	CASP10	843	HP:0001428	Somatic mutation
OMIM:613659	CASP10	843	HP:0012126	Stomach cancer
OMIM:611603	TUBA1A	7846	HP:0001339	Lissencephaly
OMIM:611603	TUBA1A	7846	HP:0001250	Seizures
OMIM:611603	TUBA1A	7846	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611603	TUBA1A	7846	HP:0002119	Ventriculomegaly
OMIM:611603	TUBA1A	7846	HP:0001274	Agenesis of corpus callosum
OMIM:611603	TUBA1A	7846	HP:0001302	Pachygyria
OMIM:611603	TUBA1A	7846	HP:0001320	Cerebellar vermis hypoplasia
OMIM:611603	TUBA1A	7846	HP:0010864	Intellectual disability, severe
OMIM:611603	TUBA1A	7846	HP:0001290	Generalized hypotonia
OMIM:611603	TUBA1A	7846	HP:0002365	Hypoplasia of the brainstem
OMIM:611603	TUBA1A	7846	HP:0001251	Ataxia
OMIM:611603	TUBA1A	7846	HP:0002510	Spastic tetraplegia
OMIM:611603	TUBA1A	7846	HP:0000006	Autosomal dominant inheritance
OMIM:611603	TUBA1A	7846	HP:0000252	Microcephaly
OMIM:611603	TUBA1A	7846	HP:0001270	Motor delay
OMIM:611603	TUBA1A	7846	HP:0002126	Polymicrogyria
OMIM:611603	TUBA1A	7846	HP:0002282	Heterotopia
OMIM:611895	ANG	283	HP:0002460	Distal muscle weakness
OMIM:611895	ANG	283	HP:0001257	Spasticity
OMIM:611895	ANG	283	HP:0003693	Distal amyotrophy
OMIM:611895	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:611895	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:52901	FSHB	2488	HP:0000134	Female hypogonadism
ORPHA:52901	FSHB	2488	HP:0008213	Gonadotropin deficiency
ORPHA:52901	FSHB	2488	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:52901	FSHB	2488	HP:0002215	Sparse axillary hair
ORPHA:52901	FSHB	2488	HP:0008214	Decreased serum estradiol
ORPHA:52901	FSHB	2488	HP:0000786	Primary amenorrhea
ORPHA:52901	FSHB	2488	HP:0000798	Oligospermia
ORPHA:52901	FSHB	2488	HP:0002750	Delayed skeletal maturation
ORPHA:52901	FSHB	2488	HP:0030018	Decreased female libido
ORPHA:52901	FSHB	2488	HP:0012569	Delayed menarche
ORPHA:52901	FSHB	2488	HP:0008230	Decreased testosterone in males
ORPHA:52901	FSHB	2488	HP:0000026	Male hypogonadism
ORPHA:52901	FSHB	2488	HP:0012814	Bilateral breast hypoplasia
ORPHA:52901	FSHB	2488	HP:0000027	Azoospermia
ORPHA:52901	FSHB	2488	HP:0000029	Testicular atrophy
ORPHA:52901	FSHB	2488	HP:0008734	Decreased testicular size
ORPHA:52901	FSHB	2488	HP:0012864	Abnormal sperm morphology
ORPHA:52901	FSHB	2488	HP:0000876	Oligomenorrhea
ORPHA:52901	FSHB	2488	HP:0002225	Sparse pubic hair
ORPHA:52901	FSHB	2488	HP:0010791	Hyperplasia of the Leydig cells
OMIM:187601	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:187601	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:187601	FGFR3	2261	HP:0008909	Lethal short-limbed short stature
OMIM:187601	FGFR3	2261	HP:0000274	Small face
OMIM:187601	FGFR3	2261	HP:0000946	Hypoplastic ilia
OMIM:187601	FGFR3	2261	HP:0002093	Respiratory insufficiency
OMIM:187601	FGFR3	2261	HP:0003185	Short sacroiliac notch
OMIM:187601	FGFR3	2261	HP:0000774	Narrow chest
OMIM:187601	FGFR3	2261	HP:0003811	Neonatal death
OMIM:187601	FGFR3	2261	HP:0000910	Wide-cupped costochondral junctions
OMIM:187601	FGFR3	2261	HP:0001156	Brachydactyly
OMIM:187601	FGFR3	2261	HP:0006584	Small abnormally formed scapulae
OMIM:187601	FGFR3	2261	HP:0000926	Platyspondyly
OMIM:187601	FGFR3	2261	HP:0001561	Polyhydramnios
OMIM:187601	FGFR3	2261	HP:0001558	Decreased fetal movement
OMIM:187601	FGFR3	2261	HP:0000773	Short ribs
OMIM:187601	FGFR3	2261	HP:0003025	Metaphyseal irregularity
OMIM:187601	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:187601	FGFR3	2261	HP:0002676	Cloverleaf skull
OMIM:250220	GPX4	2879	HP:0000774	Narrow chest
OMIM:250220	GPX4	2879	HP:0001252	Muscular hypotonia
OMIM:250220	GPX4	2879	HP:0003025	Metaphyseal irregularity
OMIM:250220	GPX4	2879	HP:0001290	Generalized hypotonia
OMIM:250220	GPX4	2879	HP:0000926	Platyspondyly
OMIM:250220	GPX4	2879	HP:0002869	Flared iliac wings
OMIM:250220	GPX4	2879	HP:0001762	Talipes equinovarus
OMIM:250220	GPX4	2879	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:250220	GPX4	2879	HP:0003375	Narrow greater sacrosciatic notches
OMIM:250220	GPX4	2879	HP:0004491	Large posterior fontanelle
OMIM:250220	GPX4	2879	HP:0005280	Depressed nasal bridge
OMIM:250220	GPX4	2879	HP:0007187	Focal lissencephaly
OMIM:250220	GPX4	2879	HP:0000007	Autosomal recessive inheritance
OMIM:250220	GPX4	2879	HP:0000262	Turricephaly
OMIM:250220	GPX4	2879	HP:0003026	Short long bone
OMIM:250220	GPX4	2879	HP:0001831	Short toe
OMIM:250220	GPX4	2879	HP:0008798	Widened sacrosciatic notch
OMIM:250220	GPX4	2879	HP:0001631	Atrial septal defect
OMIM:250220	GPX4	2879	HP:0003021	Metaphyseal cupping
OMIM:250220	GPX4	2879	HP:0010049	Short metacarpal
OMIM:250220	GPX4	2879	HP:0004688	Irregular tarsal bones
OMIM:250220	GPX4	2879	HP:0002657	Spondylometaphyseal dysplasia
OMIM:250220	GPX4	2879	HP:0009381	Short finger
OMIM:250220	GPX4	2879	HP:0002663	Delayed epiphyseal ossification
OMIM:250220	GPX4	2879	HP:0008786	Iliac crest serration
OMIM:250220	GPX4	2879	HP:0000878	11 pairs of ribs
OMIM:250220	GPX4	2879	HP:0003180	Flat acetabular roof
OMIM:250220	GPX4	2879	HP:0009803	Short phalanx of finger
OMIM:250220	GPX4	2879	HP:0000773	Short ribs
OMIM:250220	GPX4	2879	HP:0011675	Arrhythmia
OMIM:250220	GPX4	2879	HP:0000358	Posteriorly rotated ears
OMIM:250220	GPX4	2879	HP:0001582	Redundant skin
OMIM:250220	GPX4	2879	HP:0006059	Cone-shaped metacarpal epiphyses
OMIM:250220	GPX4	2879	HP:0000887	Cupped ribs
OMIM:250220	GPX4	2879	HP:0001156	Brachydactyly
OMIM:250220	GPX4	2879	HP:0002132	Porencephalic cyst
OMIM:250220	GPX4	2879	HP:0008905	Rhizomelia
OMIM:250220	GPX4	2879	HP:0000470	Short neck
OMIM:250220	GPX4	2879	HP:0003085	Long fibula
OMIM:616705	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:616603	ALDH18A1	5832	HP:0000519	Congenital cataract
OMIM:616603	ALDH18A1	5832	HP:0100790	Hernia
OMIM:616603	ALDH18A1	5832	HP:0002827	Hip dislocation
OMIM:616603	ALDH18A1	5832	HP:0001348	Brisk reflexes
OMIM:616603	ALDH18A1	5832	HP:0011220	Prominent forehead
OMIM:616603	ALDH18A1	5832	HP:0000369	Low-set ears
OMIM:616603	ALDH18A1	5832	HP:0000973	Cutis laxa
OMIM:616603	ALDH18A1	5832	HP:0011968	Feeding difficulties
OMIM:616603	ALDH18A1	5832	HP:0000337	Broad forehead
OMIM:616603	ALDH18A1	5832	HP:0001511	Intrauterine growth retardation
OMIM:616603	ALDH18A1	5832	HP:0000270	Delayed cranial suture closure
OMIM:616603	ALDH18A1	5832	HP:0000252	Microcephaly
OMIM:616603	ALDH18A1	5832	HP:0000411	Protruding ear
OMIM:616603	ALDH18A1	5832	HP:0000325	Triangular face
OMIM:616603	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:616603	ALDH18A1	5832	HP:0000006	Autosomal dominant inheritance
OMIM:616603	ALDH18A1	5832	HP:0001181	Adducted thumb
OMIM:616603	ALDH18A1	5832	HP:0001290	Generalized hypotonia
OMIM:616603	ALDH18A1	5832	HP:0007957	Corneal opacity
OMIM:616603	ALDH18A1	5832	HP:0100678	Premature skin wrinkling
ORPHA:36412	DNASE1L3	1776	HP:0000988	Skin rash
ORPHA:36412	DNASE1L3	1776	HP:0000509	Conjunctivitis
ORPHA:36412	DNASE1L3	1776	HP:0100534	Episcleritis
ORPHA:36412	DNASE1L3	1776	HP:0100820	Glomerulopathy
ORPHA:36412	DNASE1L3	1776	HP:0002960	Autoimmunity
ORPHA:36412	DNASE1L3	1776	HP:0000989	Pruritus
ORPHA:36412	DNASE1L3	1776	HP:0002105	Hemoptysis
ORPHA:36412	DNASE1L3	1776	HP:0002094	Dyspnea
ORPHA:36412	DNASE1L3	1776	HP:0002017	Nausea and vomiting
ORPHA:36412	DNASE1L3	1776	HP:0011944	Small vessel vasculitis
ORPHA:36412	DNASE1L3	1776	HP:0000554	Uveitis
ORPHA:36412	DNASE1L3	1776	HP:0000083	Renal insufficiency
ORPHA:36412	DNASE1L3	1776	HP:0100665	Angioedema
ORPHA:36412	DNASE1L3	1776	HP:0004431	Complement deficiency
ORPHA:36412	DNASE1L3	1776	HP:0001369	Arthritis
ORPHA:36412	DNASE1L3	1776	HP:0007400	Irregular hyperpigmentation
ORPHA:36412	DNASE1L3	1776	HP:0000093	Proteinuria
ORPHA:36412	DNASE1L3	1776	HP:0012735	Cough
ORPHA:36412	DNASE1L3	1776	HP:0000790	Hematuria
ORPHA:36412	DNASE1L3	1776	HP:0002027	Abdominal pain
OMIM:617080	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:617080	SCN8A	6334	HP:0002069	Generalized tonic-clonic seizures
OMIM:616977	HIVEP2	3097	HP:0001290	Generalized hypotonia
OMIM:616977	HIVEP2	3097	HP:0000739	Anxiety
OMIM:616977	HIVEP2	3097	HP:0001249	Intellectual disability
OMIM:616977	HIVEP2	3097	HP:0001999	Abnormal facial shape
OMIM:616977	HIVEP2	3097	HP:0000752	Hyperactivity
OMIM:616977	HIVEP2	3097	HP:0000729	Autistic behavior
OMIM:616977	HIVEP2	3097	HP:0001263	Global developmental delay
OMIM:616977	HIVEP2	3097	HP:0000006	Autosomal dominant inheritance
OMIM:616977	HIVEP2	3097	HP:0000160	Narrow mouth
OMIM:616977	HIVEP2	3097	HP:0002019	Constipation
OMIM:616977	HIVEP2	3097	HP:0100710	Impulsivity
OMIM:616977	HIVEP2	3097	HP:0002020	Gastroesophageal reflux
OMIM:616977	HIVEP2	3097	HP:0003593	Infantile onset
OMIM:616977	HIVEP2	3097	HP:0000431	Wide nasal bridge
OMIM:616977	HIVEP2	3097	HP:0001182	Tapered finger
OMIM:616977	HIVEP2	3097	HP:0011968	Feeding difficulties
OMIM:616977	HIVEP2	3097	HP:0000426	Prominent nasal bridge
ORPHA:1052	BUB3	9184	HP:0000325	Triangular face
ORPHA:1052	BUB3	9184	HP:0000504	Abnormality of vision
ORPHA:1052	BUB3	9184	HP:0000252	Microcephaly
ORPHA:1052	BUB3	9184	HP:0003560	Muscular dystrophy
ORPHA:1052	BUB3	9184	HP:0000568	Microphthalmia
ORPHA:1052	BUB3	9184	HP:0000518	Cataract
ORPHA:1052	BUB3	9184	HP:0004322	Short stature
ORPHA:1052	BUB3	9184	HP:0001263	Global developmental delay
ORPHA:1052	BUB3	9184	HP:0001249	Intellectual disability
ORPHA:1052	BUB3	9184	HP:0001541	Ascites
ORPHA:1052	BUB3	9184	HP:0000501	Glaucoma
ORPHA:1052	BUB3	9184	HP:0001305	Dandy-Walker malformation
ORPHA:1052	BUB3	9184	HP:0001561	Polyhydramnios
ORPHA:1052	BUB3	9184	HP:0000347	Micrognathia
ORPHA:1052	BUB3	9184	HP:0010880	Increased nuchal translucency
ORPHA:1052	BUB3	9184	HP:0000286	Epicanthus
ORPHA:1052	BUB3	9184	HP:0007957	Corneal opacity
ORPHA:1052	CEP57	9702	HP:0000325	Triangular face
ORPHA:1052	CEP57	9702	HP:0000504	Abnormality of vision
ORPHA:1052	CEP57	9702	HP:0000252	Microcephaly
ORPHA:1052	CEP57	9702	HP:0003560	Muscular dystrophy
ORPHA:1052	CEP57	9702	HP:0000568	Microphthalmia
ORPHA:1052	CEP57	9702	HP:0000518	Cataract
ORPHA:1052	CEP57	9702	HP:0004322	Short stature
ORPHA:1052	CEP57	9702	HP:0001263	Global developmental delay
ORPHA:1052	CEP57	9702	HP:0001249	Intellectual disability
ORPHA:1052	CEP57	9702	HP:0001541	Ascites
ORPHA:1052	CEP57	9702	HP:0000501	Glaucoma
ORPHA:1052	CEP57	9702	HP:0001305	Dandy-Walker malformation
ORPHA:1052	CEP57	9702	HP:0001561	Polyhydramnios
ORPHA:1052	CEP57	9702	HP:0000347	Micrognathia
ORPHA:1052	CEP57	9702	HP:0010880	Increased nuchal translucency
ORPHA:1052	CEP57	9702	HP:0000286	Epicanthus
ORPHA:1052	CEP57	9702	HP:0007957	Corneal opacity
ORPHA:1052	TRIP13	9319	HP:0000325	Triangular face
ORPHA:1052	TRIP13	9319	HP:0000504	Abnormality of vision
ORPHA:1052	TRIP13	9319	HP:0000252	Microcephaly
ORPHA:1052	TRIP13	9319	HP:0003560	Muscular dystrophy
ORPHA:1052	TRIP13	9319	HP:0000568	Microphthalmia
ORPHA:1052	TRIP13	9319	HP:0000518	Cataract
ORPHA:1052	TRIP13	9319	HP:0004322	Short stature
ORPHA:1052	TRIP13	9319	HP:0001263	Global developmental delay
ORPHA:1052	TRIP13	9319	HP:0001249	Intellectual disability
ORPHA:1052	TRIP13	9319	HP:0001541	Ascites
ORPHA:1052	TRIP13	9319	HP:0000501	Glaucoma
ORPHA:1052	TRIP13	9319	HP:0001305	Dandy-Walker malformation
ORPHA:1052	TRIP13	9319	HP:0001561	Polyhydramnios
ORPHA:1052	TRIP13	9319	HP:0000347	Micrognathia
ORPHA:1052	TRIP13	9319	HP:0010880	Increased nuchal translucency
ORPHA:1052	TRIP13	9319	HP:0000286	Epicanthus
ORPHA:1052	TRIP13	9319	HP:0007957	Corneal opacity
ORPHA:1052	BUB1	699	HP:0000325	Triangular face
ORPHA:1052	BUB1	699	HP:0000504	Abnormality of vision
ORPHA:1052	BUB1	699	HP:0000252	Microcephaly
ORPHA:1052	BUB1	699	HP:0003560	Muscular dystrophy
ORPHA:1052	BUB1	699	HP:0000568	Microphthalmia
ORPHA:1052	BUB1	699	HP:0000518	Cataract
ORPHA:1052	BUB1	699	HP:0004322	Short stature
ORPHA:1052	BUB1	699	HP:0001263	Global developmental delay
ORPHA:1052	BUB1	699	HP:0001249	Intellectual disability
ORPHA:1052	BUB1	699	HP:0001541	Ascites
ORPHA:1052	BUB1	699	HP:0000501	Glaucoma
ORPHA:1052	BUB1	699	HP:0001305	Dandy-Walker malformation
ORPHA:1052	BUB1	699	HP:0001561	Polyhydramnios
ORPHA:1052	BUB1	699	HP:0000347	Micrognathia
ORPHA:1052	BUB1	699	HP:0010880	Increased nuchal translucency
ORPHA:1052	BUB1	699	HP:0000286	Epicanthus
ORPHA:1052	BUB1	699	HP:0007957	Corneal opacity
ORPHA:1052	BUB1B	701	HP:0000325	Triangular face
ORPHA:1052	BUB1B	701	HP:0000504	Abnormality of vision
ORPHA:1052	BUB1B	701	HP:0000252	Microcephaly
ORPHA:1052	BUB1B	701	HP:0003560	Muscular dystrophy
ORPHA:1052	BUB1B	701	HP:0000568	Microphthalmia
ORPHA:1052	BUB1B	701	HP:0000518	Cataract
ORPHA:1052	BUB1B	701	HP:0004322	Short stature
ORPHA:1052	BUB1B	701	HP:0001263	Global developmental delay
ORPHA:1052	BUB1B	701	HP:0001249	Intellectual disability
ORPHA:1052	BUB1B	701	HP:0001541	Ascites
ORPHA:1052	BUB1B	701	HP:0000501	Glaucoma
ORPHA:1052	BUB1B	701	HP:0001305	Dandy-Walker malformation
ORPHA:1052	BUB1B	701	HP:0001561	Polyhydramnios
ORPHA:1052	BUB1B	701	HP:0000347	Micrognathia
ORPHA:1052	BUB1B	701	HP:0010880	Increased nuchal translucency
ORPHA:1052	BUB1B	701	HP:0000286	Epicanthus
ORPHA:1052	BUB1B	701	HP:0007957	Corneal opacity
ORPHA:969	LTBP3	4054	HP:0000179	Thick lower lip vermilion
ORPHA:969	LTBP3	4054	HP:0000311	Round face
ORPHA:969	LTBP3	4054	HP:0000527	Long eyelashes
ORPHA:969	LTBP3	4054	HP:0000160	Narrow mouth
ORPHA:969	LTBP3	4054	HP:0000534	Abnormality of the eyebrow
ORPHA:969	LTBP3	4054	HP:0001156	Brachydactyly
ORPHA:969	LTBP3	4054	HP:0200055	Small hand
ORPHA:969	LTBP3	4054	HP:0003510	Severe short stature
ORPHA:969	LTBP3	4054	HP:0004279	Short palm
ORPHA:969	LTBP3	4054	HP:0003196	Short nose
ORPHA:969	LTBP3	4054	HP:0000463	Anteverted nares
ORPHA:969	LTBP3	4054	HP:0000762	Decreased nerve conduction velocity
ORPHA:969	LTBP3	4054	HP:0000343	Long philtrum
ORPHA:969	LTBP3	4054	HP:0000414	Bulbous nose
ORPHA:969	FBN1	2200	HP:0000179	Thick lower lip vermilion
ORPHA:969	FBN1	2200	HP:0000311	Round face
ORPHA:969	FBN1	2200	HP:0000527	Long eyelashes
ORPHA:969	FBN1	2200	HP:0000160	Narrow mouth
ORPHA:969	FBN1	2200	HP:0000534	Abnormality of the eyebrow
ORPHA:969	FBN1	2200	HP:0001156	Brachydactyly
ORPHA:969	FBN1	2200	HP:0200055	Small hand
ORPHA:969	FBN1	2200	HP:0003510	Severe short stature
ORPHA:969	FBN1	2200	HP:0004279	Short palm
ORPHA:969	FBN1	2200	HP:0003196	Short nose
ORPHA:969	FBN1	2200	HP:0000463	Anteverted nares
ORPHA:969	FBN1	2200	HP:0000762	Decreased nerve conduction velocity
ORPHA:969	FBN1	2200	HP:0000343	Long philtrum
ORPHA:969	FBN1	2200	HP:0000414	Bulbous nose
OMIM:610015	GLUL	2752	HP:0001290	Generalized hypotonia
OMIM:610015	GLUL	2752	HP:0003429	CNS hypomyelination
OMIM:610015	GLUL	2752	HP:0011344	Severe global developmental delay
OMIM:610015	GLUL	2752	HP:0000369	Low-set ears
OMIM:610015	GLUL	2752	HP:0000988	Skin rash
OMIM:610015	GLUL	2752	HP:0000007	Autosomal recessive inheritance
OMIM:610015	GLUL	2752	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610015	GLUL	2752	HP:0002104	Apnea
OMIM:610015	GLUL	2752	HP:0007109	Periventricular cysts
OMIM:610015	GLUL	2752	HP:0001298	Encephalopathy
OMIM:610015	GLUL	2752	HP:0001662	Bradycardia
OMIM:610015	GLUL	2752	HP:0002093	Respiratory insufficiency
OMIM:610015	GLUL	2752	HP:0002119	Ventriculomegaly
OMIM:610015	GLUL	2752	HP:0000431	Wide nasal bridge
OMIM:610015	GLUL	2752	HP:0012444	Brain atrophy
OMIM:610015	GLUL	2752	HP:0001987	Hyperammonemia
OMIM:610015	GLUL	2752	HP:0005280	Depressed nasal bridge
OMIM:610015	GLUL	2752	HP:0001347	Hyperreflexia
OMIM:610015	GLUL	2752	HP:0002416	Subependymal cysts
OMIM:610015	GLUL	2752	HP:0001250	Seizures
ORPHA:90650	FLNA	2316	HP:0009778	Short thumb
ORPHA:90650	FLNA	2316	HP:0010109	Short hallux
ORPHA:90650	FLNA	2316	HP:0002652	Skeletal dysplasia
ORPHA:90650	FLNA	2316	HP:0000365	Hearing impairment
ORPHA:90650	FLNA	2316	HP:0000677	Oligodontia
ORPHA:90650	FLNA	2316	HP:0009623	Proximal placement of thumb
ORPHA:90650	FLNA	2316	HP:0000431	Wide nasal bridge
ORPHA:90650	FLNA	2316	HP:0001376	Limitation of joint mobility
ORPHA:90650	FLNA	2316	HP:0005280	Depressed nasal bridge
ORPHA:90650	FLNA	2316	HP:0011001	Increased bone mineral density
ORPHA:90650	FLNA	2316	HP:0002684	Thickened calvaria
ORPHA:90650	FLNA	2316	HP:0000316	Hypertelorism
ORPHA:90650	FLNA	2316	HP:0009882	Short distal phalanx of finger
ORPHA:90650	FLNA	2316	HP:0001256	Intellectual disability, mild
ORPHA:90650	FLNA	2316	HP:0002738	Hypoplastic frontal sinuses
ORPHA:90650	FLNA	2316	HP:0004279	Short palm
ORPHA:90650	FLNA	2316	HP:0000674	Anodontia
ORPHA:90650	FLNA	2316	HP:0000494	Downslanted palpebral fissures
ORPHA:90650	FLNA	2316	HP:0000175	Cleft palate
ORPHA:90650	FLNA	2316	HP:0001163	Abnormality of the metacarpal bones
ORPHA:90650	FLNA	2316	HP:0006487	Bowing of the long bones
ORPHA:90650	FLNA	2316	HP:0000336	Prominent supraorbital ridges
ORPHA:90650	FLNA	2316	HP:0001852	Sandal gap
ORPHA:90650	FLNA	2316	HP:0003042	Elbow dislocation
OMIM:307800	PHEX	5251	HP:0002749	Osteomalacia
OMIM:307800	PHEX	5251	HP:0000124	Renal tubular dysfunction
OMIM:307800	PHEX	5251	HP:0002982	Tibial bowing
OMIM:307800	PHEX	5251	HP:0003155	Elevated alkaline phosphatase
OMIM:307800	PHEX	5251	HP:0002176	Spinal cord compression
OMIM:307800	PHEX	5251	HP:0000117	Renal phosphate wasting
OMIM:307800	PHEX	5251	HP:0002979	Bowing of the legs
OMIM:307800	PHEX	5251	HP:0008117	Shortening of the talar neck
OMIM:307800	PHEX	5251	HP:0002829	Arthralgia
OMIM:307800	PHEX	5251	HP:0003416	Spinal canal stenosis
OMIM:307800	PHEX	5251	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:307800	PHEX	5251	HP:0002653	Bone pain
OMIM:307800	PHEX	5251	HP:0006285	Hypomineralization of enamel
OMIM:307800	PHEX	5251	HP:0004322	Short stature
OMIM:307800	PHEX	5251	HP:0002007	Frontal bossing
OMIM:307800	PHEX	5251	HP:0004912	Hypophosphatemic rickets
OMIM:307800	PHEX	5251	HP:0002758	Osteoarthritis
OMIM:307800	PHEX	5251	HP:0003025	Metaphyseal irregularity
OMIM:307800	PHEX	5251	HP:0008144	Flattening of the talar dome
OMIM:307800	PHEX	5251	HP:0003812	Phenotypic variability
OMIM:307800	PHEX	5251	HP:0010502	Fibular bowing
OMIM:307800	PHEX	5251	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:307800	PHEX	5251	HP:0006432	Trapezoidal distal femoral condyles
OMIM:307800	PHEX	5251	HP:0001423	X-linked dominant inheritance
OMIM:307800	PHEX	5251	HP:0002980	Femoral bowing
OMIM:307800	PHEX	5251	HP:0002148	Hypophosphatemia
OMIM:268310	ROR2	4920	HP:0000270	Delayed cranial suture closure
OMIM:268310	ROR2	4920	HP:0000316	Hypertelorism
OMIM:268310	ROR2	4920	HP:0030084	Clinodactyly
OMIM:268310	ROR2	4920	HP:0011800	Midface retrusion
OMIM:268310	ROR2	4920	HP:0004279	Short palm
OMIM:268310	ROR2	4920	HP:0011304	Broad thumb
OMIM:268310	ROR2	4920	HP:0000207	Triangular mouth
OMIM:268310	ROR2	4920	HP:0002948	Vertebral fusion
OMIM:268310	ROR2	4920	HP:0009466	Radial deviation of finger
OMIM:268310	ROR2	4920	HP:0000343	Long philtrum
OMIM:268310	ROR2	4920	HP:0002750	Delayed skeletal maturation
OMIM:268310	ROR2	4920	HP:0000256	Macrocephaly
OMIM:268310	ROR2	4920	HP:0008467	Thoracic hemivertebrae
OMIM:268310	ROR2	4920	HP:0000358	Posteriorly rotated ears
OMIM:268310	ROR2	4920	HP:0000637	Long palpebral fissure
OMIM:268310	ROR2	4920	HP:0000054	Micropenis
OMIM:268310	ROR2	4920	HP:0000075	Renal duplication
OMIM:268310	ROR2	4920	HP:0000212	Gingival overgrowth
OMIM:268310	ROR2	4920	HP:0001249	Intellectual disability
OMIM:268310	ROR2	4920	HP:0004220	Short middle phalanx of the 5th finger
OMIM:268310	ROR2	4920	HP:0004590	Hypoplastic sacrum
OMIM:268310	ROR2	4920	HP:0000060	Clitoral hypoplasia
OMIM:268310	ROR2	4920	HP:0000696	Delayed eruption of permanent teeth
OMIM:268310	ROR2	4920	HP:0001853	Bifid distal phalanx of toe
OMIM:268310	ROR2	4920	HP:0000463	Anteverted nares
OMIM:268310	ROR2	4920	HP:0010292	Absent uvula
OMIM:268310	ROR2	4920	HP:0001537	Umbilical hernia
OMIM:268310	ROR2	4920	HP:0000023	Inguinal hernia
OMIM:268310	ROR2	4920	HP:0000347	Micrognathia
OMIM:268310	ROR2	4920	HP:0000219	Thin upper lip vermilion
OMIM:268310	ROR2	4920	HP:0000767	Pectus excavatum
OMIM:268310	ROR2	4920	HP:0000158	Macroglossia
OMIM:268310	ROR2	4920	HP:0000059	Hypoplastic labia majora
OMIM:268310	ROR2	4920	HP:0001263	Global developmental delay
OMIM:268310	ROR2	4920	HP:0000007	Autosomal recessive inheritance
OMIM:268310	ROR2	4920	HP:0002944	Thoracolumbar scoliosis
OMIM:268310	ROR2	4920	HP:0002007	Frontal bossing
OMIM:268310	ROR2	4920	HP:0003027	Mesomelia
OMIM:268310	ROR2	4920	HP:0000431	Wide nasal bridge
OMIM:268310	ROR2	4920	HP:0001705	Right ventricular outlet obstruction
OMIM:268310	ROR2	4920	HP:0001052	Nevus flammeus
OMIM:268310	ROR2	4920	HP:0000494	Downslanted palpebral fissures
OMIM:268310	ROR2	4920	HP:0000678	Dental crowding
OMIM:268310	ROR2	4920	HP:0001837	Broad toe
OMIM:268310	ROR2	4920	HP:0000126	Hydronephrosis
OMIM:268310	ROR2	4920	HP:0000520	Proptosis
OMIM:268310	ROR2	4920	HP:0012368	Flat face
OMIM:268310	ROR2	4920	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:268310	ROR2	4920	HP:0000260	Wide anterior fontanel
OMIM:268310	ROR2	4920	HP:0000272	Malar flattening
OMIM:268310	ROR2	4920	HP:0000921	Missing ribs
OMIM:268310	ROR2	4920	HP:0000028	Cryptorchidism
OMIM:268310	ROR2	4920	HP:0009883	Duplication of the distal phalanx of hand
OMIM:268310	ROR2	4920	HP:0000902	Rib fusion
OMIM:615683	ENTPD1	953	HP:0001260	Dysarthria
OMIM:615683	ENTPD1	953	HP:0000718	Aggressive behavior
OMIM:615683	ENTPD1	953	HP:0003202	Skeletal muscle atrophy
OMIM:615683	ENTPD1	953	HP:0000823	Delayed puberty
OMIM:615683	ENTPD1	953	HP:0001288	Gait disturbance
OMIM:615683	ENTPD1	953	HP:0001249	Intellectual disability
OMIM:615683	ENTPD1	953	HP:0000007	Autosomal recessive inheritance
OMIM:615683	ENTPD1	953	HP:0002342	Intellectual disability, moderate
OMIM:244400	DNAI1	27019	HP:0100582	Nasal polyposis
OMIM:244400	DNAI1	27019	HP:0002090	Pneumonia
OMIM:244400	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:244400	DNAI1	27019	HP:0012265	Ciliary dyskinesia
OMIM:244400	DNAI1	27019	HP:0000246	Sinusitis
OMIM:244400	DNAI1	27019	HP:0000389	Chronic otitis media
OMIM:244400	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:244400	DNAI1	27019	HP:0005938	Abnormal respiratory motile cilium morphology
OMIM:244400	DNAI1	27019	HP:0003251	Male infertility
OMIM:244400	DNAI1	27019	HP:0001334	Communicating hydrocephalus
OMIM:244400	DNAI1	27019	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:244400	DNAI1	27019	HP:0001425	Heterogeneous
OMIM:244400	DNAI1	27019	HP:0001746	Asplenia
OMIM:244400	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAI1	27019	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAI1	27019	HP:0002688	Absent frontal sinuses
OMIM:244400	DNAI1	27019	HP:0002257	Chronic rhinitis
OMIM:244400	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:244400	DNAI1	27019	HP:0000458	Anosmia
OMIM:244400	DNAI1	27019	HP:0002315	Headache
OMIM:615704	FAM111B	374393	HP:0001029	Poikiloderma
OMIM:615704	FAM111B	374393	HP:0002240	Hepatomegaly
OMIM:615704	FAM111B	374393	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615704	FAM111B	374393	HP:0000006	Autosomal dominant inheritance
OMIM:615704	FAM111B	374393	HP:0001596	Alopecia
OMIM:615704	FAM111B	374393	HP:0000966	Hypohidrosis
OMIM:615704	FAM111B	374393	HP:0003202	Skeletal muscle atrophy
OMIM:113620	TFAP2A	7020	HP:0000954	Single transverse palmar crease
OMIM:113620	TFAP2A	7020	HP:0001177	Preaxial hand polydactyly
OMIM:113620	TFAP2A	7020	HP:0000987	Atypical scarring of skin
OMIM:113620	TFAP2A	7020	HP:0002020	Gastroesophageal reflux
OMIM:113620	TFAP2A	7020	HP:0002216	Premature graying of hair
OMIM:113620	TFAP2A	7020	HP:0002558	Supernumerary nipple
OMIM:113620	TFAP2A	7020	HP:0000006	Autosomal dominant inheritance
OMIM:113620	TFAP2A	7020	HP:0000612	Iris coloboma
OMIM:113620	TFAP2A	7020	HP:0000579	Nasolacrimal duct obstruction
OMIM:113620	TFAP2A	7020	HP:0001511	Intrauterine growth retardation
OMIM:113620	TFAP2A	7020	HP:0000204	Cleft upper lip
OMIM:113620	TFAP2A	7020	HP:0001256	Intellectual disability, mild
OMIM:113620	TFAP2A	7020	HP:0000272	Malar flattening
OMIM:113620	TFAP2A	7020	HP:0009794	Branchial anomaly
OMIM:113620	TFAP2A	7020	HP:0005473	Fusion of middle ear ossicles
OMIM:113620	TFAP2A	7020	HP:0000350	Small forehead
OMIM:113620	TFAP2A	7020	HP:0002211	White forelock
OMIM:113620	TFAP2A	7020	HP:0005280	Depressed nasal bridge
OMIM:113620	TFAP2A	7020	HP:0002021	Pyloric stenosis
OMIM:113620	TFAP2A	7020	HP:0000252	Microcephaly
OMIM:113620	TFAP2A	7020	HP:0000486	Strabismus
OMIM:113620	TFAP2A	7020	HP:0000528	Anophthalmia
OMIM:113620	TFAP2A	7020	HP:0000506	Telecanthus
OMIM:113620	TFAP2A	7020	HP:0001250	Seizures
OMIM:113620	TFAP2A	7020	HP:0009778	Short thumb
OMIM:113620	TFAP2A	7020	HP:0000316	Hypertelorism
OMIM:113620	TFAP2A	7020	HP:0004785	Malrotation of colon
OMIM:113620	TFAP2A	7020	HP:0000508	Ptosis
OMIM:113620	TFAP2A	7020	HP:0001611	Nasal speech
OMIM:113620	TFAP2A	7020	HP:0004467	Preauricular pit
OMIM:113620	TFAP2A	7020	HP:0002162	Low posterior hairline
OMIM:113620	TFAP2A	7020	HP:0000396	Overfolded helix
OMIM:113620	TFAP2A	7020	HP:0000420	Short nasal septum
OMIM:113620	TFAP2A	7020	HP:0000455	Broad nasal tip
OMIM:113620	TFAP2A	7020	HP:0000175	Cleft palate
OMIM:113620	TFAP2A	7020	HP:0000369	Low-set ears
OMIM:113620	TFAP2A	7020	HP:0008559	Hypoplastic superior helix
OMIM:113620	TFAP2A	7020	HP:0000164	Abnormality of the dentition
OMIM:113620	TFAP2A	7020	HP:0000028	Cryptorchidism
OMIM:113620	TFAP2A	7020	HP:0008551	Microtia
OMIM:113620	TFAP2A	7020	HP:0000107	Renal cyst
OMIM:113620	TFAP2A	7020	HP:0009623	Proximal placement of thumb
OMIM:113620	TFAP2A	7020	HP:0000518	Cataract
OMIM:113620	TFAP2A	7020	HP:0004209	Clinodactyly of the 5th finger
OMIM:113620	TFAP2A	7020	HP:0000047	Hypospadias
OMIM:113620	TFAP2A	7020	HP:0001057	Aplasia cutis congenita
OMIM:113620	TFAP2A	7020	HP:0005217	Duplication of internal organs
OMIM:113620	TFAP2A	7020	HP:0000407	Sensorineural hearing impairment
OMIM:113620	TFAP2A	7020	HP:0004334	Dermal atrophy
OMIM:113620	TFAP2A	7020	HP:0010517	Ectopic thymus tissue
OMIM:113620	TFAP2A	7020	HP:0002808	Kyphosis
OMIM:113620	TFAP2A	7020	HP:0000582	Upslanted palpebral fissure
OMIM:113620	TFAP2A	7020	HP:0000405	Conductive hearing impairment
OMIM:113620	TFAP2A	7020	HP:0000347	Micrognathia
OMIM:113620	TFAP2A	7020	HP:0003307	Hyperlordosis
OMIM:113620	TFAP2A	7020	HP:0000104	Renal agenesis
OMIM:113620	TFAP2A	7020	HP:0000196	Lower lip pit
OMIM:113620	TFAP2A	7020	HP:0000470	Short neck
OMIM:113620	TFAP2A	7020	HP:0002335	Agenesis of cerebellar vermis
OMIM:113620	TFAP2A	7020	HP:0000639	Nystagmus
OMIM:113620	TFAP2A	7020	HP:0008606	Supraauricular pit
OMIM:113620	TFAP2A	7020	HP:0000480	Retinal coloboma
OMIM:113620	TFAP2A	7020	HP:0004464	Postauricular pit
OMIM:113620	TFAP2A	7020	HP:0000358	Posteriorly rotated ears
OMIM:113620	TFAP2A	7020	HP:0000568	Microphthalmia
OMIM:113620	TFAP2A	7020	HP:0006610	Wide intermamillary distance
OMIM:113620	TFAP2A	7020	HP:0010566	Hamartoma
OMIM:113620	TFAP2A	7020	HP:0002987	Elbow flexion contracture
OMIM:113620	TFAP2A	7020	HP:0000268	Dolichocephaly
OMIM:113620	TFAP2A	7020	HP:0000545	Myopia
OMIM:113620	TFAP2A	7020	HP:0001804	Hypoplastic fingernail
ORPHA:270	PABPN1	8106	HP:0000600	Abnormality of the pharynx
ORPHA:270	PABPN1	8106	HP:0003200	Ragged-red muscle fibers
ORPHA:270	PABPN1	8106	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:270	PABPN1	8106	HP:0000508	Ptosis
ORPHA:270	PABPN1	8106	HP:0003805	Rimmed vacuoles
ORPHA:270	PABPN1	8106	HP:0003198	Myopathy
ORPHA:270	PABPN1	8106	HP:0003302	Spondylolisthesis
ORPHA:270	PABPN1	8106	HP:0000602	Ophthalmoplegia
OMIM:615185	GNB4	59345	HP:0001265	Hyporeflexia
OMIM:615185	GNB4	59345	HP:0003383	Onion bulb formation
OMIM:615185	GNB4	59345	HP:0000006	Autosomal dominant inheritance
OMIM:615185	GNB4	59345	HP:0001761	Pes cavus
OMIM:615185	GNB4	59345	HP:0003677	Slow progression
OMIM:615185	GNB4	59345	HP:0003450	Axonal regeneration
OMIM:615185	GNB4	59345	HP:0003376	Steppage gait
OMIM:615185	GNB4	59345	HP:0002936	Distal sensory impairment
OMIM:615185	GNB4	59345	HP:0001765	Hammertoe
OMIM:609698	SECISBP2	79048	HP:0002750	Delayed skeletal maturation
OMIM:609698	SECISBP2	79048	HP:0000007	Autosomal recessive inheritance
OMIM:609698	SECISBP2	79048	HP:0002925	Increased thyroid-stimulating hormone level
ORPHA:211	CYLD	1540	HP:0001482	Subcutaneous nodule
ORPHA:211	CYLD	1540	HP:0100585	Telangiectasia of the skin
OMIM:604250	TFR2	7036	HP:0002910	Elevated hepatic transaminases
OMIM:604250	TFR2	7036	HP:0001888	Lymphopenia
OMIM:604250	TFR2	7036	HP:0000953	Hyperpigmentation of the skin
OMIM:604250	TFR2	7036	HP:0000141	Amenorrhea
OMIM:604250	TFR2	7036	HP:0001638	Cardiomyopathy
OMIM:604250	TFR2	7036	HP:0001369	Arthritis
OMIM:604250	TFR2	7036	HP:0001875	Neutropenia
OMIM:604250	TFR2	7036	HP:0003452	Increased serum iron
OMIM:604250	TFR2	7036	HP:0000007	Autosomal recessive inheritance
OMIM:604250	TFR2	7036	HP:0012378	Fatigue
OMIM:604250	TFR2	7036	HP:0000802	Impotence
OMIM:604250	TFR2	7036	HP:0001394	Cirrhosis
OMIM:604250	TFR2	7036	HP:0003281	Increased serum ferritin
OMIM:604250	TFR2	7036	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604250	TFR2	7036	HP:0001903	Anemia
OMIM:608323	YARS	8565	HP:0000006	Autosomal dominant inheritance
OMIM:608323	YARS	8565	HP:0003450	Axonal regeneration
OMIM:608323	YARS	8565	HP:0001425	Heterogeneous
OMIM:608323	YARS	8565	HP:0003484	Upper limb muscle weakness
OMIM:608323	YARS	8565	HP:0003693	Distal amyotrophy
OMIM:608323	YARS	8565	HP:0002460	Distal muscle weakness
OMIM:608323	YARS	8565	HP:0001760	Abnormality of the foot
OMIM:608323	YARS	8565	HP:0002936	Distal sensory impairment
OMIM:615206	CARD11	84433	HP:0002090	Pneumonia
OMIM:615206	CARD11	84433	HP:0002721	Immunodeficiency
OMIM:615206	CARD11	84433	HP:0000007	Autosomal recessive inheritance
OMIM:615206	CARD11	84433	HP:0002205	Recurrent respiratory infections
OMIM:615206	CARD11	84433	HP:0004313	Decreased antibody level in blood
OMIM:615206	CARD11	84433	HP:0003593	Infantile onset
OMIM:613646	CD320	51293	HP:0012120	Methylmalonic aciduria
OMIM:613646	CD320	51293	HP:0000007	Autosomal recessive inheritance
OMIM:608799	DPM1	8813	HP:0005469	Flat occiput
OMIM:608799	DPM1	8813	HP:0009824	Upper limb undergrowth
OMIM:608799	DPM1	8813	HP:0001508	Failure to thrive
OMIM:608799	DPM1	8813	HP:0006879	Pontocerebellar atrophy
OMIM:608799	DPM1	8813	HP:0004855	Reduced protein S activity
OMIM:608799	DPM1	8813	HP:0003676	Progressive
OMIM:608799	DPM1	8813	HP:0000007	Autosomal recessive inheritance
OMIM:608799	DPM1	8813	HP:0000494	Downslanted palpebral fissures
OMIM:608799	DPM1	8813	HP:0000639	Nystagmus
OMIM:608799	DPM1	8813	HP:0000347	Micrognathia
OMIM:608799	DPM1	8813	HP:0000488	Retinopathy
OMIM:608799	DPM1	8813	HP:0005280	Depressed nasal bridge
OMIM:608799	DPM1	8813	HP:0000486	Strabismus
OMIM:608799	DPM1	8813	HP:0002395	Lower limb hyperreflexia
OMIM:608799	DPM1	8813	HP:0001744	Splenomegaly
OMIM:608799	DPM1	8813	HP:0002910	Elevated hepatic transaminases
OMIM:608799	DPM1	8813	HP:0002353	EEG abnormality
OMIM:608799	DPM1	8813	HP:0002705	High, narrow palate
OMIM:608799	DPM1	8813	HP:0001643	Patent ductus arteriosus
OMIM:608799	DPM1	8813	HP:0000316	Hypertelorism
OMIM:608799	DPM1	8813	HP:0000648	Optic atrophy
OMIM:608799	DPM1	8813	HP:0001251	Ataxia
OMIM:608799	DPM1	8813	HP:0006380	Knee flexion contracture
OMIM:608799	DPM1	8813	HP:0100704	Cortical visual impairment
OMIM:608799	DPM1	8813	HP:0002164	Nail dysplasia
OMIM:608799	DPM1	8813	HP:0003593	Infantile onset
OMIM:608799	DPM1	8813	HP:0003642	Type I transferrin isoform profile
OMIM:608799	DPM1	8813	HP:0012385	Camptodactyly
OMIM:608799	DPM1	8813	HP:0001290	Generalized hypotonia
OMIM:608799	DPM1	8813	HP:0003645	Prolonged partial thromboplastin time
OMIM:608799	DPM1	8813	HP:0004279	Short palm
OMIM:608799	DPM1	8813	HP:0001103	Abnormal macular morphology
OMIM:608799	DPM1	8813	HP:0001337	Tremor
OMIM:608799	DPM1	8813	HP:0002240	Hepatomegaly
OMIM:608799	DPM1	8813	HP:0000319	Smooth philtrum
OMIM:608799	DPM1	8813	HP:0001976	Reduced antithrombin III activity
OMIM:608799	DPM1	8813	HP:0005543	Reduced protein C activity
OMIM:608799	DPM1	8813	HP:0011344	Severe global developmental delay
OMIM:608799	DPM1	8813	HP:0003828	Variable expressivity
OMIM:608799	DPM1	8813	HP:0003560	Muscular dystrophy
OMIM:608799	DPM1	8813	HP:0001009	Telangiectasia
OMIM:608799	DPM1	8813	HP:0001028	Hemangioma
OMIM:608799	DPM1	8813	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608799	DPM1	8813	HP:0005484	Postnatal microcephaly
OMIM:608799	DPM1	8813	HP:0001250	Seizures
OMIM:608799	DPM1	8813	HP:0002098	Respiratory distress
OMIM:608799	DPM1	8813	HP:0200055	Small hand
OMIM:608799	DPM1	8813	HP:0006466	Ankle contracture
OMIM:613148	IL10RA	3587	HP:0009789	Perianal abscess
OMIM:613148	IL10RA	3587	HP:0002573	Hematochezia
OMIM:613148	IL10RA	3587	HP:0000007	Autosomal recessive inheritance
OMIM:613148	IL10RA	3587	HP:0004387	Enterocolitis
OMIM:613148	IL10RA	3587	HP:0000999	Pyoderma
ORPHA:3163	PIK3R1	5295	HP:0000023	Inguinal hernia
ORPHA:3163	PIK3R1	5295	HP:0004396	Poor appetite
ORPHA:3163	PIK3R1	5295	HP:0011800	Midface retrusion
ORPHA:3163	PIK3R1	5295	HP:0001596	Alopecia
ORPHA:3163	PIK3R1	5295	HP:0009125	Lipodystrophy
ORPHA:3163	PIK3R1	5295	HP:0000490	Deeply set eye
ORPHA:3163	PIK3R1	5295	HP:0007392	Excessive wrinkled skin
ORPHA:3163	PIK3R1	5295	HP:0005692	Joint hyperflexibility
ORPHA:3163	PIK3R1	5295	HP:0000615	Abnormality of the pupil
ORPHA:3163	PIK3R1	5295	HP:0001824	Weight loss
ORPHA:3163	PIK3R1	5295	HP:0000501	Glaucoma
ORPHA:3163	PIK3R1	5295	HP:0007676	Hypoplasia of the iris
ORPHA:3163	PIK3R1	5295	HP:0000855	Insulin resistance
ORPHA:3163	PIK3R1	5295	HP:0000485	Megalocornea
ORPHA:3163	PIK3R1	5295	HP:0000819	Diabetes mellitus
ORPHA:3163	PIK3R1	5295	HP:0002167	Neurological speech impairment
ORPHA:3163	PIK3R1	5295	HP:0000682	Abnormality of dental enamel
ORPHA:3163	PIK3R1	5295	HP:0000407	Sensorineural hearing impairment
ORPHA:3163	PIK3R1	5295	HP:0000691	Microdontia
ORPHA:3163	PIK3R1	5295	HP:0001006	Hypotrichosis
ORPHA:3163	PIK3R1	5295	HP:0003510	Severe short stature
OMIM:614756	CAMTA1	23261	HP:0000307	Pointed chin
OMIM:614756	CAMTA1	23261	HP:0000414	Bulbous nose
OMIM:614756	CAMTA1	23261	HP:0001256	Intellectual disability, mild
OMIM:614756	CAMTA1	23261	HP:0000343	Long philtrum
OMIM:614756	CAMTA1	23261	HP:0001260	Dysarthria
OMIM:614756	CAMTA1	23261	HP:0002317	Unsteady gait
OMIM:614756	CAMTA1	23261	HP:0000006	Autosomal dominant inheritance
OMIM:614756	CAMTA1	23261	HP:0001319	Neonatal hypotonia
OMIM:614756	CAMTA1	23261	HP:0000463	Anteverted nares
OMIM:614756	CAMTA1	23261	HP:0000276	Long face
OMIM:614756	CAMTA1	23261	HP:0001263	Global developmental delay
OMIM:614756	CAMTA1	23261	HP:0002120	Cerebral cortical atrophy
OMIM:614756	CAMTA1	23261	HP:0000750	Delayed speech and language development
OMIM:614756	CAMTA1	23261	HP:0000179	Thick lower lip vermilion
OMIM:614756	CAMTA1	23261	HP:0001310	Dysmetria
OMIM:207800	ARG1	383	HP:0002039	Anorexia
OMIM:207800	ARG1	383	HP:0002478	Progressive spastic quadriplegia
OMIM:207800	ARG1	383	HP:0003218	Oroticaciduria
OMIM:207800	ARG1	383	HP:0008897	Postnatal growth retardation
OMIM:207800	ARG1	383	HP:0001249	Intellectual disability
OMIM:207800	ARG1	383	HP:0002013	Vomiting
OMIM:207800	ARG1	383	HP:0000752	Hyperactivity
OMIM:207800	ARG1	383	HP:0001250	Seizures
OMIM:207800	ARG1	383	HP:0001987	Hyperammonemia
OMIM:207800	ARG1	383	HP:0008339	Diaminoaciduria
OMIM:207800	ARG1	383	HP:0001263	Global developmental delay
OMIM:207800	ARG1	383	HP:0000007	Autosomal recessive inheritance
OMIM:207800	ARG1	383	HP:0000737	Irritability
OMIM:249100	MEFV	4210	HP:0001369	Arthritis
OMIM:249100	MEFV	4210	HP:0001701	Pericarditis
OMIM:249100	MEFV	4210	HP:0000007	Autosomal recessive inheritance
OMIM:249100	MEFV	4210	HP:0002829	Arthralgia
OMIM:249100	MEFV	4210	HP:0001917	Renal amyloidosis
OMIM:249100	MEFV	4210	HP:0002027	Abdominal pain
OMIM:249100	MEFV	4210	HP:0002102	Pleuritis
OMIM:249100	MEFV	4210	HP:0001744	Splenomegaly
OMIM:249100	MEFV	4210	HP:0001954	Episodic fever
OMIM:249100	MEFV	4210	HP:0001287	Meningitis
OMIM:249100	MEFV	4210	HP:0002586	Peritonitis
OMIM:249100	MEFV	4210	HP:0000083	Renal insufficiency
OMIM:249100	MEFV	4210	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:249100	MEFV	4210	HP:0001974	Leukocytosis
OMIM:249100	MEFV	4210	HP:0000100	Nephrotic syndrome
OMIM:249100	MEFV	4210	HP:0002240	Hepatomegaly
OMIM:204700	KLK4	9622	HP:0000705	Amelogenesis imperfecta
OMIM:204700	KLK4	9622	HP:0000670	Carious teeth
OMIM:204700	KLK4	9622	HP:0000007	Autosomal recessive inheritance
OMIM:616044	TBC1D24	57465	HP:0003677	Slow progression
OMIM:616044	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:193510	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:193510	MITF	4286	HP:0002216	Premature graying of hair
OMIM:193510	MITF	4286	HP:0000430	Underdeveloped nasal alae
OMIM:193510	MITF	4286	HP:0001425	Heterogeneous
OMIM:193510	MITF	4286	HP:0001022	Albinism
OMIM:193510	MITF	4286	HP:0007990	Hypoplastic iris stroma
OMIM:193510	MITF	4286	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193510	MITF	4286	HP:0001100	Heterochromia iridis
OMIM:193510	MITF	4286	HP:0000431	Wide nasal bridge
OMIM:193510	MITF	4286	HP:0002227	White eyelashes
OMIM:193510	MITF	4286	HP:0007443	Partial albinism
OMIM:193510	MITF	4286	HP:0002226	White eyebrow
OMIM:193510	MITF	4286	HP:0000664	Synophrys
OMIM:193510	MITF	4286	HP:0003828	Variable expressivity
OMIM:193510	MITF	4286	HP:0002211	White forelock
OMIM:263650	RIPK4	54101	HP:0000175	Cleft palate
OMIM:263650	RIPK4	54101	HP:0009777	Absent thumb
OMIM:263650	RIPK4	54101	HP:0000369	Low-set ears
OMIM:263650	RIPK4	54101	HP:0000062	Ambiguous genitalia
OMIM:263650	RIPK4	54101	HP:0009803	Short phalanx of finger
OMIM:263650	RIPK4	54101	HP:0002223	Absent eyebrow
OMIM:263650	RIPK4	54101	HP:0000059	Hypoplastic labia majora
OMIM:263650	RIPK4	54101	HP:0009756	Popliteal pterygium
OMIM:263650	RIPK4	54101	HP:0001159	Syndactyly
OMIM:263650	RIPK4	54101	HP:0001798	Anonychia
OMIM:263650	RIPK4	54101	HP:0003196	Short nose
OMIM:263650	RIPK4	54101	HP:0000007	Autosomal recessive inheritance
OMIM:263650	RIPK4	54101	HP:0009755	Ankyloblepharon
OMIM:263650	RIPK4	54101	HP:0000561	Absent eyelashes
OMIM:263650	RIPK4	54101	HP:0002006	Facial cleft
OMIM:263650	RIPK4	54101	HP:0002025	Anal stenosis
OMIM:263650	RIPK4	54101	HP:0001511	Intrauterine growth retardation
OMIM:263650	RIPK4	54101	HP:0001792	Small nail
OMIM:263650	RIPK4	54101	HP:0000204	Cleft upper lip
OMIM:611377	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:611377	NOG	9241	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:611377	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:611377	NOG	9241	HP:0006109	Absent phalangeal crease
OMIM:611377	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:611377	NOG	9241	HP:0009882	Short distal phalanx of finger
OMIM:611377	NOG	9241	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:611377	NOG	9241	HP:0009623	Proximal placement of thumb
OMIM:611377	NOG	9241	HP:0010554	Cutaneous finger syndactyly
OMIM:611377	NOG	9241	HP:0008386	Aplasia/Hypoplasia of the nails
OMIM:611377	NOG	9241	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:611377	NOG	9241	HP:0010621	Cutaneous syndactyly of toes
OMIM:158600	DYNC1H1	1778	HP:0003445	EMG: neuropathic changes
OMIM:158600	DYNC1H1	1778	HP:0002515	Waddling gait
OMIM:158600	DYNC1H1	1778	HP:0003677	Slow progression
OMIM:158600	DYNC1H1	1778	HP:0011808	Decreased patellar reflex
OMIM:158600	DYNC1H1	1778	HP:0003474	Sensory impairment
OMIM:158600	DYNC1H1	1778	HP:0009046	Difficulty running
OMIM:158600	DYNC1H1	1778	HP:0011463	Childhood onset
OMIM:158600	DYNC1H1	1778	HP:0001760	Abnormality of the foot
OMIM:158600	DYNC1H1	1778	HP:0007269	Spinal muscular atrophy
OMIM:158600	DYNC1H1	1778	HP:0010602	Type 2 muscle fiber predominance
OMIM:158600	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:158600	DYNC1H1	1778	HP:0008956	Proximal lower limb amyotrophy
OMIM:158600	DYNC1H1	1778	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:615506	GDF2	2658	HP:0001009	Telangiectasia
OMIM:615506	GDF2	2658	HP:0004406	Spontaneous, recurrent epistaxis
OMIM:615506	GDF2	2658	HP:0000006	Autosomal dominant inheritance
ORPHA:1466	ERCC1	2067	HP:0000407	Sensorineural hearing impairment
ORPHA:1466	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
ORPHA:1466	ERCC1	2067	HP:0000252	Microcephaly
ORPHA:1466	ERCC1	2067	HP:0008872	Feeding difficulties in infancy
ORPHA:1466	ERCC1	2067	HP:0000232	Everted lower lip vermilion
ORPHA:1466	ERCC1	2067	HP:0000568	Microphthalmia
ORPHA:1466	ERCC1	2067	HP:0100490	Camptodactyly of finger
ORPHA:1466	ERCC1	2067	HP:0001387	Joint stiffness
ORPHA:1466	ERCC1	2067	HP:0001522	Death in infancy
ORPHA:1466	ERCC1	2067	HP:0002514	Cerebral calcification
ORPHA:1466	ERCC1	2067	HP:0002120	Cerebral cortical atrophy
ORPHA:1466	ERCC1	2067	HP:0001276	Hypertonia
ORPHA:1466	ERCC1	2067	HP:0000347	Micrognathia
ORPHA:1466	ERCC1	2067	HP:0005105	Abnormal nasal morphology
ORPHA:1466	ERCC1	2067	HP:0000470	Short neck
ORPHA:1466	ERCC1	2067	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1466	ERCC1	2067	HP:0000431	Wide nasal bridge
ORPHA:1466	ERCC1	2067	HP:0001250	Seizures
ORPHA:1466	ERCC1	2067	HP:0005487	Prominent metopic ridge
ORPHA:1466	ERCC1	2067	HP:0010978	Abnormality of immune system physiology
ORPHA:1466	ERCC1	2067	HP:0000505	Visual impairment
ORPHA:1466	ERCC1	2067	HP:0001511	Intrauterine growth retardation
ORPHA:1466	ERCC1	2067	HP:0001252	Muscular hypotonia
ORPHA:1466	ERCC1	2067	HP:0004322	Short stature
ORPHA:1466	ERCC1	2067	HP:0011344	Severe global developmental delay
ORPHA:1466	ERCC1	2067	HP:0000135	Hypogonadism
ORPHA:1466	ERCC1	2067	HP:0000518	Cataract
ORPHA:1466	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1466	ERCC1	2067	HP:0001315	Reduced tendon reflexes
ORPHA:1466	ERCC2	2068	HP:0000407	Sensorineural hearing impairment
ORPHA:1466	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
ORPHA:1466	ERCC2	2068	HP:0000252	Microcephaly
ORPHA:1466	ERCC2	2068	HP:0008872	Feeding difficulties in infancy
ORPHA:1466	ERCC2	2068	HP:0000232	Everted lower lip vermilion
ORPHA:1466	ERCC2	2068	HP:0000568	Microphthalmia
ORPHA:1466	ERCC2	2068	HP:0100490	Camptodactyly of finger
ORPHA:1466	ERCC2	2068	HP:0001387	Joint stiffness
ORPHA:1466	ERCC2	2068	HP:0001522	Death in infancy
ORPHA:1466	ERCC2	2068	HP:0002514	Cerebral calcification
ORPHA:1466	ERCC2	2068	HP:0002120	Cerebral cortical atrophy
ORPHA:1466	ERCC2	2068	HP:0001276	Hypertonia
ORPHA:1466	ERCC2	2068	HP:0000347	Micrognathia
ORPHA:1466	ERCC2	2068	HP:0005105	Abnormal nasal morphology
ORPHA:1466	ERCC2	2068	HP:0000470	Short neck
ORPHA:1466	ERCC2	2068	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1466	ERCC2	2068	HP:0000431	Wide nasal bridge
ORPHA:1466	ERCC2	2068	HP:0001250	Seizures
ORPHA:1466	ERCC2	2068	HP:0005487	Prominent metopic ridge
ORPHA:1466	ERCC2	2068	HP:0010978	Abnormality of immune system physiology
ORPHA:1466	ERCC2	2068	HP:0000505	Visual impairment
ORPHA:1466	ERCC2	2068	HP:0001511	Intrauterine growth retardation
ORPHA:1466	ERCC2	2068	HP:0001252	Muscular hypotonia
ORPHA:1466	ERCC2	2068	HP:0004322	Short stature
ORPHA:1466	ERCC2	2068	HP:0011344	Severe global developmental delay
ORPHA:1466	ERCC2	2068	HP:0000135	Hypogonadism
ORPHA:1466	ERCC2	2068	HP:0000518	Cataract
ORPHA:1466	ERCC2	2068	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1466	ERCC2	2068	HP:0001315	Reduced tendon reflexes
ORPHA:1466	ERCC5	2073	HP:0000407	Sensorineural hearing impairment
ORPHA:1466	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
ORPHA:1466	ERCC5	2073	HP:0000252	Microcephaly
ORPHA:1466	ERCC5	2073	HP:0008872	Feeding difficulties in infancy
ORPHA:1466	ERCC5	2073	HP:0000232	Everted lower lip vermilion
ORPHA:1466	ERCC5	2073	HP:0000568	Microphthalmia
ORPHA:1466	ERCC5	2073	HP:0100490	Camptodactyly of finger
ORPHA:1466	ERCC5	2073	HP:0001387	Joint stiffness
ORPHA:1466	ERCC5	2073	HP:0001522	Death in infancy
ORPHA:1466	ERCC5	2073	HP:0002514	Cerebral calcification
ORPHA:1466	ERCC5	2073	HP:0002120	Cerebral cortical atrophy
ORPHA:1466	ERCC5	2073	HP:0001276	Hypertonia
ORPHA:1466	ERCC5	2073	HP:0000347	Micrognathia
ORPHA:1466	ERCC5	2073	HP:0005105	Abnormal nasal morphology
ORPHA:1466	ERCC5	2073	HP:0000470	Short neck
ORPHA:1466	ERCC5	2073	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1466	ERCC5	2073	HP:0000431	Wide nasal bridge
ORPHA:1466	ERCC5	2073	HP:0001250	Seizures
ORPHA:1466	ERCC5	2073	HP:0005487	Prominent metopic ridge
ORPHA:1466	ERCC5	2073	HP:0010978	Abnormality of immune system physiology
ORPHA:1466	ERCC5	2073	HP:0000505	Visual impairment
ORPHA:1466	ERCC5	2073	HP:0001511	Intrauterine growth retardation
ORPHA:1466	ERCC5	2073	HP:0001252	Muscular hypotonia
ORPHA:1466	ERCC5	2073	HP:0004322	Short stature
ORPHA:1466	ERCC5	2073	HP:0011344	Severe global developmental delay
ORPHA:1466	ERCC5	2073	HP:0000135	Hypogonadism
ORPHA:1466	ERCC5	2073	HP:0000518	Cataract
ORPHA:1466	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1466	ERCC5	2073	HP:0001315	Reduced tendon reflexes
ORPHA:1466	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
ORPHA:1466	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
ORPHA:1466	ERCC6	2074	HP:0000252	Microcephaly
ORPHA:1466	ERCC6	2074	HP:0008872	Feeding difficulties in infancy
ORPHA:1466	ERCC6	2074	HP:0000232	Everted lower lip vermilion
ORPHA:1466	ERCC6	2074	HP:0000568	Microphthalmia
ORPHA:1466	ERCC6	2074	HP:0100490	Camptodactyly of finger
ORPHA:1466	ERCC6	2074	HP:0001387	Joint stiffness
ORPHA:1466	ERCC6	2074	HP:0001522	Death in infancy
ORPHA:1466	ERCC6	2074	HP:0002514	Cerebral calcification
ORPHA:1466	ERCC6	2074	HP:0002120	Cerebral cortical atrophy
ORPHA:1466	ERCC6	2074	HP:0001276	Hypertonia
ORPHA:1466	ERCC6	2074	HP:0000347	Micrognathia
ORPHA:1466	ERCC6	2074	HP:0005105	Abnormal nasal morphology
ORPHA:1466	ERCC6	2074	HP:0000470	Short neck
ORPHA:1466	ERCC6	2074	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1466	ERCC6	2074	HP:0000431	Wide nasal bridge
ORPHA:1466	ERCC6	2074	HP:0001250	Seizures
ORPHA:1466	ERCC6	2074	HP:0005487	Prominent metopic ridge
ORPHA:1466	ERCC6	2074	HP:0010978	Abnormality of immune system physiology
ORPHA:1466	ERCC6	2074	HP:0000505	Visual impairment
ORPHA:1466	ERCC6	2074	HP:0001511	Intrauterine growth retardation
ORPHA:1466	ERCC6	2074	HP:0001252	Muscular hypotonia
ORPHA:1466	ERCC6	2074	HP:0004322	Short stature
ORPHA:1466	ERCC6	2074	HP:0011344	Severe global developmental delay
ORPHA:1466	ERCC6	2074	HP:0000135	Hypogonadism
ORPHA:1466	ERCC6	2074	HP:0000518	Cataract
ORPHA:1466	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:1466	ERCC6	2074	HP:0001315	Reduced tendon reflexes
ORPHA:96253	CDH23	64072	HP:0001956	Truncal obesity
ORPHA:96253	CDH23	64072	HP:0000787	Nephrolithiasis
ORPHA:96253	CDH23	64072	HP:0001508	Failure to thrive
ORPHA:96253	CDH23	64072	HP:0002721	Immunodeficiency
ORPHA:96253	CDH23	64072	HP:0000716	Depressivity
ORPHA:96253	CDH23	64072	HP:0012378	Fatigue
ORPHA:96253	CDH23	64072	HP:0000963	Thin skin
ORPHA:96253	CDH23	64072	HP:0000132	Menorrhagia
ORPHA:96253	CDH23	64072	HP:0000939	Osteoporosis
ORPHA:96253	CDH23	64072	HP:0002893	Pituitary adenoma
ORPHA:96253	CDH23	64072	HP:0000789	Infertility
ORPHA:96253	CDH23	64072	HP:0002230	Generalized hirsutism
ORPHA:96253	CDH23	64072	HP:0008221	Adrenal hyperplasia
ORPHA:96253	CDH23	64072	HP:0000819	Diabetes mellitus
ORPHA:96253	CDH23	64072	HP:0000978	Bruising susceptibility
ORPHA:96253	CDH23	64072	HP:0002900	Hypokalemia
ORPHA:96253	CDH23	64072	HP:0009125	Lipodystrophy
ORPHA:96253	CDH23	64072	HP:0001061	Acne
ORPHA:96253	CDH23	64072	HP:0002757	Recurrent fractures
ORPHA:96253	CDH23	64072	HP:0000311	Round face
ORPHA:96253	CDH23	64072	HP:0000739	Anxiety
ORPHA:96253	CDH23	64072	HP:0000822	Hypertension
ORPHA:96253	CDH23	64072	HP:0100608	Metrorrhagia
ORPHA:96253	USP8	9101	HP:0001956	Truncal obesity
ORPHA:96253	USP8	9101	HP:0000787	Nephrolithiasis
ORPHA:96253	USP8	9101	HP:0001508	Failure to thrive
ORPHA:96253	USP8	9101	HP:0002721	Immunodeficiency
ORPHA:96253	USP8	9101	HP:0000716	Depressivity
ORPHA:96253	USP8	9101	HP:0012378	Fatigue
ORPHA:96253	USP8	9101	HP:0000963	Thin skin
ORPHA:96253	USP8	9101	HP:0000132	Menorrhagia
ORPHA:96253	USP8	9101	HP:0000939	Osteoporosis
ORPHA:96253	USP8	9101	HP:0002893	Pituitary adenoma
ORPHA:96253	USP8	9101	HP:0000789	Infertility
ORPHA:96253	USP8	9101	HP:0002230	Generalized hirsutism
ORPHA:96253	USP8	9101	HP:0008221	Adrenal hyperplasia
ORPHA:96253	USP8	9101	HP:0000819	Diabetes mellitus
ORPHA:96253	USP8	9101	HP:0000978	Bruising susceptibility
ORPHA:96253	USP8	9101	HP:0002900	Hypokalemia
ORPHA:96253	USP8	9101	HP:0009125	Lipodystrophy
ORPHA:96253	USP8	9101	HP:0001061	Acne
ORPHA:96253	USP8	9101	HP:0002757	Recurrent fractures
ORPHA:96253	USP8	9101	HP:0000311	Round face
ORPHA:96253	USP8	9101	HP:0000739	Anxiety
ORPHA:96253	USP8	9101	HP:0000822	Hypertension
ORPHA:96253	USP8	9101	HP:0100608	Metrorrhagia
OMIM:612004	CYCS	54205	HP:0001873	Thrombocytopenia
OMIM:612004	CYCS	54205	HP:0000006	Autosomal dominant inheritance
OMIM:130050	COL3A1	1281	HP:0000023	Inguinal hernia
OMIM:130050	COL3A1	1281	HP:0000006	Autosomal dominant inheritance
OMIM:130050	COL3A1	1281	HP:0001634	Mitral valve prolapse
OMIM:130050	COL3A1	1281	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
OMIM:130050	COL3A1	1281	HP:0001762	Talipes equinovarus
OMIM:130050	COL3A1	1281	HP:0002105	Hemoptysis
OMIM:130050	COL3A1	1281	HP:0001073	Cigarette-paper scars
OMIM:130050	COL3A1	1281	HP:0000233	Thin vermilion border
OMIM:130050	COL3A1	1281	HP:0002293	Alopecia of scalp
OMIM:130050	COL3A1	1281	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:130050	COL3A1	1281	HP:0002108	Spontaneous pneumothorax
OMIM:130050	COL3A1	1281	HP:0000704	Periodontitis
OMIM:130050	COL3A1	1281	HP:0000978	Bruising susceptibility
OMIM:130050	COL3A1	1281	HP:0000139	Uterine prolapse
OMIM:130050	COL3A1	1281	HP:0004944	Dilatation of the cerebral artery
OMIM:130050	COL3A1	1281	HP:0000079	Abnormality of the urinary system
OMIM:130050	COL3A1	1281	HP:0000563	Keratoconus
OMIM:130050	COL3A1	1281	HP:0001842	Foot acroosteolysis
OMIM:130050	COL3A1	1281	HP:0004322	Short stature
OMIM:130050	COL3A1	1281	HP:0000387	Absent earlobe
OMIM:130050	COL3A1	1281	HP:0006201	Hypermobility of distal interphalangeal joints
OMIM:130050	COL3A1	1281	HP:0000993	Molluscoid pseudotumors
OMIM:130050	COL3A1	1281	HP:0006480	Premature loss of teeth
OMIM:130050	COL3A1	1281	HP:0001030	Fragile skin
OMIM:300803	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300803	ZNF711	7552	HP:0002342	Intellectual disability, moderate
OMIM:300803	ZNF711	7552	HP:0001417	X-linked inheritance
ORPHA:2908	FERMT1	55612	HP:0008066	Abnormal blistering of the skin
ORPHA:2908	FERMT1	55612	HP:0006323	Premature loss of primary teeth
ORPHA:2908	FERMT1	55612	HP:0002583	Colitis
ORPHA:2908	FERMT1	55612	HP:0000982	Palmoplantar keratoderma
ORPHA:2908	FERMT1	55612	HP:0000682	Abnormality of dental enamel
ORPHA:2908	FERMT1	55612	HP:0000704	Periodontitis
ORPHA:2908	FERMT1	55612	HP:0100490	Camptodactyly of finger
ORPHA:2908	FERMT1	55612	HP:0100633	Esophagitis
ORPHA:2908	FERMT1	55612	HP:0008388	Abnormal toenail morphology
ORPHA:2908	FERMT1	55612	HP:0001029	Poikiloderma
ORPHA:2908	FERMT1	55612	HP:0001581	Recurrent skin infections
ORPHA:2908	FERMT1	55612	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:2908	FERMT1	55612	HP:0002015	Dysphagia
ORPHA:2908	FERMT1	55612	HP:0006101	Finger syndactyly
ORPHA:2908	FERMT1	55612	HP:0001000	Abnormality of skin pigmentation
ORPHA:2908	FERMT1	55612	HP:0000992	Cutaneous photosensitivity
ORPHA:2908	FERMT1	55612	HP:0001741	Phimosis
ORPHA:2908	FERMT1	55612	HP:0000670	Carious teeth
ORPHA:2908	FERMT1	55612	HP:0100825	Cheilitis
ORPHA:2908	FERMT1	55612	HP:0000230	Gingivitis
ORPHA:2908	FERMT1	55612	HP:0010783	Erythema
ORPHA:2908	FERMT1	55612	HP:0002043	Esophageal stricture
OMIM:602668	CNBP	7555	HP:0001962	Palpitations
OMIM:602668	CNBP	7555	HP:0004315	IgG deficiency
OMIM:602668	CNBP	7555	HP:0003722	Neck flexor weakness
OMIM:602668	CNBP	7555	HP:0000006	Autosomal dominant inheritance
OMIM:602668	CNBP	7555	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:602668	CNBP	7555	HP:0000798	Oligospermia
OMIM:602668	CNBP	7555	HP:0000819	Diabetes mellitus
OMIM:602668	CNBP	7555	HP:0003554	Type 2 muscle fiber atrophy
OMIM:602668	CNBP	7555	HP:0001649	Tachycardia
OMIM:602668	CNBP	7555	HP:0002486	Myotonia
OMIM:602668	CNBP	7555	HP:0003701	Proximal muscle weakness
OMIM:602668	CNBP	7555	HP:0003326	Myalgia
OMIM:602668	CNBP	7555	HP:0003236	Elevated serum creatine phosphokinase
OMIM:602668	CNBP	7555	HP:0002292	Frontal balding
OMIM:602668	CNBP	7555	HP:0008189	Insulin insensitivity
OMIM:602668	CNBP	7555	HP:0007889	Iridescent posterior subcapsular cataract
OMIM:602668	CNBP	7555	HP:0000135	Hypogonadism
OMIM:602668	CNBP	7555	HP:0002850	IgM deficiency
OMIM:600462	PUS1	80324	HP:0001935	Microcytic anemia
OMIM:600462	PUS1	80324	HP:0002151	Increased serum lactate
OMIM:600462	PUS1	80324	HP:0000823	Delayed puberty
OMIM:600462	PUS1	80324	HP:0001924	Sideroblastic anemia
OMIM:600462	PUS1	80324	HP:0000218	High palate
OMIM:600462	PUS1	80324	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:600462	PUS1	80324	HP:0000347	Micrognathia
OMIM:600462	PUS1	80324	HP:0001249	Intellectual disability
OMIM:600462	PUS1	80324	HP:0001508	Failure to thrive
OMIM:600462	PUS1	80324	HP:0003546	Exercise intolerance
OMIM:600462	PUS1	80324	HP:0001931	Hypochromic anemia
OMIM:600462	PUS1	80324	HP:0003128	Lactic acidosis
OMIM:600462	PUS1	80324	HP:0003323	Progressive muscle weakness
OMIM:600462	PUS1	80324	HP:0003281	Increased serum ferritin
OMIM:600462	PUS1	80324	HP:0000007	Autosomal recessive inheritance
OMIM:600462	PUS1	80324	HP:0009055	Generalized limb muscle atrophy
OMIM:600462	PUS1	80324	HP:0012132	Erythroid hyperplasia
OMIM:600462	PUS1	80324	HP:0000252	Microcephaly
OMIM:600462	PUS1	80324	HP:0000980	Pallor
OMIM:609924	ACY1	95	HP:0002059	Cerebral atrophy
OMIM:609924	ACY1	95	HP:0001263	Global developmental delay
OMIM:609924	ACY1	95	HP:0000007	Autosomal recessive inheritance
OMIM:609924	ACY1	95	HP:0006846	Acute encephalopathy
OMIM:609924	ACY1	95	HP:0002188	Delayed CNS myelination
OMIM:609924	ACY1	95	HP:0001272	Cerebellar atrophy
OMIM:609924	ACY1	95	HP:0001290	Generalized hypotonia
OMIM:609924	ACY1	95	HP:0000407	Sensorineural hearing impairment
OMIM:609924	ACY1	95	HP:0001324	Muscle weakness
OMIM:609924	ACY1	95	HP:0000752	Hyperactivity
OMIM:609924	ACY1	95	HP:0000431	Wide nasal bridge
OMIM:609924	ACY1	95	HP:0001250	Seizures
OMIM:609924	ACY1	95	HP:0000316	Hypertelorism
OMIM:609924	ACY1	95	HP:0003812	Phenotypic variability
OMIM:265380	FOXF1	2294	HP:0000007	Autosomal recessive inheritance
OMIM:265380	FOXF1	2294	HP:0002247	Duodenal atresia
OMIM:265380	FOXF1	2294	HP:0001734	Annular pancreas
OMIM:265380	FOXF1	2294	HP:0000006	Autosomal dominant inheritance
OMIM:265380	FOXF1	2294	HP:0001561	Polyhydramnios
OMIM:265380	FOXF1	2294	HP:0002101	Abnormal lung lobation
OMIM:265380	FOXF1	2294	HP:0000072	Hydroureter
OMIM:265380	FOXF1	2294	HP:0010444	Pulmonary insufficiency
OMIM:265380	FOXF1	2294	HP:0011718	Abnormality of the pulmonary veins
OMIM:265380	FOXF1	2294	HP:0000822	Hypertension
OMIM:265380	FOXF1	2294	HP:0003811	Neonatal death
OMIM:265380	FOXF1	2294	HP:0002566	Intestinal malrotation
OMIM:265380	FOXF1	2294	HP:0001643	Patent ductus arteriosus
OMIM:265380	FOXF1	2294	HP:0002245	Meckel diverticulum
OMIM:265380	FOXF1	2294	HP:0001694	Right-to-left shunt
OMIM:265380	FOXF1	2294	HP:0002092	Pulmonary arterial hypertension
OMIM:265380	FOXF1	2294	HP:0000126	Hydronephrosis
OMIM:614749	PIGO	84720	HP:0001290	Generalized hypotonia
OMIM:614749	PIGO	84720	HP:0003155	Elevated alkaline phosphatase
OMIM:614749	PIGO	84720	HP:0010055	Broad hallux
OMIM:614749	PIGO	84720	HP:0003577	Congenital onset
OMIM:614749	PIGO	84720	HP:0010804	Tented upper lip vermilion
OMIM:614749	PIGO	84720	HP:0003196	Short nose
OMIM:614749	PIGO	84720	HP:0006118	Shortening of all distal phalanges of the fingers
OMIM:614749	PIGO	84720	HP:0000455	Broad nasal tip
OMIM:614749	PIGO	84720	HP:0002025	Anal stenosis
OMIM:614749	PIGO	84720	HP:0002023	Anal atresia
OMIM:614749	PIGO	84720	HP:0000750	Delayed speech and language development
OMIM:614749	PIGO	84720	HP:0001510	Growth delay
OMIM:614749	PIGO	84720	HP:0000431	Wide nasal bridge
OMIM:614749	PIGO	84720	HP:0000316	Hypertelorism
OMIM:614749	PIGO	84720	HP:0001249	Intellectual disability
OMIM:614749	PIGO	84720	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PIGO	84720	HP:0000637	Long palpebral fissure
OMIM:104530	LAMB3	3914	HP:0000006	Autosomal dominant inheritance
OMIM:104530	LAMB3	3914	HP:0000705	Amelogenesis imperfecta
OMIM:104530	LAMB3	3914	HP:0006311	Generalized microdontia
OMIM:616140	RARS	5917	HP:0001347	Hyperreflexia
OMIM:616140	RARS	5917	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:616140	RARS	5917	HP:0000007	Autosomal recessive inheritance
OMIM:616140	RARS	5917	HP:0001263	Global developmental delay
OMIM:616140	RARS	5917	HP:0000252	Microcephaly
OMIM:616140	RARS	5917	HP:0001260	Dysarthria
OMIM:616140	RARS	5917	HP:0002080	Intention tremor
OMIM:616140	RARS	5917	HP:0002415	Leukodystrophy
OMIM:616140	RARS	5917	HP:0000639	Nystagmus
OMIM:616140	RARS	5917	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616140	RARS	5917	HP:0003828	Variable expressivity
OMIM:616140	RARS	5917	HP:0001310	Dysmetria
OMIM:616140	RARS	5917	HP:0001249	Intellectual disability
OMIM:600121	AGPS	8540	HP:0001508	Failure to thrive
OMIM:600121	AGPS	8540	HP:0000007	Autosomal recessive inheritance
OMIM:600121	AGPS	8540	HP:0010655	Epiphyseal stippling
OMIM:600121	AGPS	8540	HP:0008905	Rhizomelia
OMIM:600121	AGPS	8540	HP:0003097	Short femur
OMIM:600121	AGPS	8540	HP:0005792	Short humerus
ORPHA:93946	PQBP1	10084	HP:0001522	Death in infancy
ORPHA:93946	PQBP1	10084	HP:0000252	Microcephaly
ORPHA:93946	PQBP1	10084	HP:0001263	Global developmental delay
ORPHA:93946	PQBP1	10084	HP:0001166	Arachnodactyly
ORPHA:93946	PQBP1	10084	HP:0000347	Micrognathia
ORPHA:93946	PQBP1	10084	HP:0000272	Malar flattening
ORPHA:93946	PQBP1	10084	HP:0001631	Atrial septal defect
ORPHA:93946	PQBP1	10084	HP:0000175	Cleft palate
ORPHA:93946	PQBP1	10084	HP:0000378	Cupped ear
ORPHA:93946	PQBP1	10084	HP:0000414	Bulbous nose
ORPHA:93946	PQBP1	10084	HP:0001249	Intellectual disability
ORPHA:93946	PQBP1	10084	HP:0000160	Narrow mouth
ORPHA:93946	PQBP1	10084	HP:0004322	Short stature
ORPHA:93946	PQBP1	10084	HP:0000431	Wide nasal bridge
OMIM:277400	MMACHC	25974	HP:0001508	Failure to thrive
OMIM:277400	MMACHC	25974	HP:0003153	Cystathioninuria
OMIM:277400	MMACHC	25974	HP:0000348	High forehead
OMIM:277400	MMACHC	25974	HP:0000580	Pigmentary retinopathy
OMIM:277400	MMACHC	25974	HP:0005575	Hemolytic-uremic syndrome
OMIM:277400	MMACHC	25974	HP:0000726	Dementia
OMIM:277400	MMACHC	25974	HP:0000007	Autosomal recessive inheritance
OMIM:277400	MMACHC	25974	HP:0000369	Low-set ears
OMIM:277400	MMACHC	25974	HP:0003223	Decreased methylcobalamin
OMIM:277400	MMACHC	25974	HP:0001889	Megaloblastic anemia
OMIM:277400	MMACHC	25974	HP:0000505	Visual impairment
OMIM:277400	MMACHC	25974	HP:0000639	Nystagmus
OMIM:277400	MMACHC	25974	HP:0000276	Long face
OMIM:277400	MMACHC	25974	HP:0001263	Global developmental delay
OMIM:277400	MMACHC	25974	HP:0003145	Decreased adenosylcobalamin
OMIM:277400	MMACHC	25974	HP:0001290	Generalized hypotonia
OMIM:277400	MMACHC	25974	HP:0001873	Thrombocytopenia
OMIM:277400	MMACHC	25974	HP:0000790	Hematuria
OMIM:277400	MMACHC	25974	HP:0008872	Feeding difficulties in infancy
OMIM:277400	MMACHC	25974	HP:0000400	Macrotia
OMIM:277400	MMACHC	25974	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:277400	MMACHC	25974	HP:0002912	Methylmalonic acidemia
OMIM:277400	MMACHC	25974	HP:0000093	Proteinuria
OMIM:277400	MMACHC	25974	HP:0001250	Seizures
OMIM:277400	MMACHC	25974	HP:0001254	Lethargy
OMIM:277400	MMACHC	25974	HP:0003593	Infantile onset
OMIM:277400	MMACHC	25974	HP:0000252	Microcephaly
OMIM:277400	MMACHC	25974	HP:0003286	Cystathioninemia
OMIM:277400	MMACHC	25974	HP:0001337	Tremor
OMIM:277400	MMACHC	25974	HP:0000319	Smooth philtrum
OMIM:277400	MMACHC	25974	HP:0002156	Homocystinuria
OMIM:277400	MMACHC	25974	HP:0000238	Hydrocephalus
OMIM:277400	MMACHC	25974	HP:0001249	Intellectual disability
OMIM:277400	MMACHC	25974	HP:0007663	Reduced visual acuity
OMIM:277400	MMACHC	25974	HP:0000083	Renal insufficiency
OMIM:277400	MMACHC	25974	HP:0000112	Nephropathy
OMIM:277400	MMACHC	25974	HP:0001289	Confusion
OMIM:277400	MMACHC	25974	HP:0002120	Cerebral cortical atrophy
OMIM:277400	MMACHC	25974	HP:0003524	Decreased methionine synthase activity
OMIM:277400	MMACHC	25974	HP:0001875	Neutropenia
OMIM:277400	MMACHC	25974	HP:0001942	Metabolic acidosis
OMIM:277400	MMACHC	25974	HP:0002160	Hyperhomocystinemia
OMIM:277400	MMACHC	25974	HP:0012120	Methylmalonic aciduria
OMIM:277400	MMACHC	25974	HP:0001907	Thromboembolism
OMIM:277400	MMACHC	25974	HP:0003658	Hypomethioninemia
OMIM:277400	MMACHC	25974	HP:0003210	Decreased methylmalonyl-CoA mutase activity
OMIM:191480	PADI3	51702	HP:0002235	Pili canaliculi
OMIM:191480	PADI3	51702	HP:0000007	Autosomal recessive inheritance
OMIM:191480	PADI3	51702	HP:0000006	Autosomal dominant inheritance
OMIM:191480	PADI3	51702	HP:0030056	Uncombable hair
OMIM:191480	PADI3	51702	HP:0011359	Dry hair
ORPHA:313	ALOXE3	59344	HP:0000962	Hyperkeratosis
ORPHA:313	ALOXE3	59344	HP:0000232	Everted lower lip vermilion
ORPHA:313	ALOXE3	59344	HP:0001019	Erythroderma
ORPHA:313	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHA:313	ALOXE3	59344	HP:0011039	Abnormality of the helix
ORPHA:313	ALOXE3	59344	HP:0001597	Abnormality of the nail
ORPHA:313	ALOXE3	59344	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	ALOXE3	59344	HP:0001006	Hypotrichosis
ORPHA:313	ALOXE3	59344	HP:0000656	Ectropion
ORPHA:313	ALOXE3	59344	HP:0008070	Sparse hair
ORPHA:313	ALOXE3	59344	HP:0000958	Dry skin
ORPHA:313	ALOXE3	59344	HP:0000989	Pruritus
ORPHA:313	ALOXE3	59344	HP:0100679	Lack of skin elasticity
ORPHA:313	ALOX12B	242	HP:0000962	Hyperkeratosis
ORPHA:313	ALOX12B	242	HP:0000232	Everted lower lip vermilion
ORPHA:313	ALOX12B	242	HP:0001019	Erythroderma
ORPHA:313	ALOX12B	242	HP:0008064	Ichthyosis
ORPHA:313	ALOX12B	242	HP:0011039	Abnormality of the helix
ORPHA:313	ALOX12B	242	HP:0001597	Abnormality of the nail
ORPHA:313	ALOX12B	242	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	ALOX12B	242	HP:0001006	Hypotrichosis
ORPHA:313	ALOX12B	242	HP:0000656	Ectropion
ORPHA:313	ALOX12B	242	HP:0008070	Sparse hair
ORPHA:313	ALOX12B	242	HP:0000958	Dry skin
ORPHA:313	ALOX12B	242	HP:0000989	Pruritus
ORPHA:313	ALOX12B	242	HP:0100679	Lack of skin elasticity
ORPHA:313	LIPN	643418	HP:0000962	Hyperkeratosis
ORPHA:313	LIPN	643418	HP:0000232	Everted lower lip vermilion
ORPHA:313	LIPN	643418	HP:0001019	Erythroderma
ORPHA:313	LIPN	643418	HP:0008064	Ichthyosis
ORPHA:313	LIPN	643418	HP:0011039	Abnormality of the helix
ORPHA:313	LIPN	643418	HP:0001597	Abnormality of the nail
ORPHA:313	LIPN	643418	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	LIPN	643418	HP:0001006	Hypotrichosis
ORPHA:313	LIPN	643418	HP:0000656	Ectropion
ORPHA:313	LIPN	643418	HP:0008070	Sparse hair
ORPHA:313	LIPN	643418	HP:0000958	Dry skin
ORPHA:313	LIPN	643418	HP:0000989	Pruritus
ORPHA:313	LIPN	643418	HP:0100679	Lack of skin elasticity
ORPHA:313	SULT2B1	6820	HP:0000962	Hyperkeratosis
ORPHA:313	SULT2B1	6820	HP:0000232	Everted lower lip vermilion
ORPHA:313	SULT2B1	6820	HP:0001019	Erythroderma
ORPHA:313	SULT2B1	6820	HP:0008064	Ichthyosis
ORPHA:313	SULT2B1	6820	HP:0011039	Abnormality of the helix
ORPHA:313	SULT2B1	6820	HP:0001597	Abnormality of the nail
ORPHA:313	SULT2B1	6820	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	SULT2B1	6820	HP:0001006	Hypotrichosis
ORPHA:313	SULT2B1	6820	HP:0000656	Ectropion
ORPHA:313	SULT2B1	6820	HP:0008070	Sparse hair
ORPHA:313	SULT2B1	6820	HP:0000958	Dry skin
ORPHA:313	SULT2B1	6820	HP:0000989	Pruritus
ORPHA:313	SULT2B1	6820	HP:0100679	Lack of skin elasticity
ORPHA:313	ABCA12	26154	HP:0000962	Hyperkeratosis
ORPHA:313	ABCA12	26154	HP:0000232	Everted lower lip vermilion
ORPHA:313	ABCA12	26154	HP:0001019	Erythroderma
ORPHA:313	ABCA12	26154	HP:0008064	Ichthyosis
ORPHA:313	ABCA12	26154	HP:0011039	Abnormality of the helix
ORPHA:313	ABCA12	26154	HP:0001597	Abnormality of the nail
ORPHA:313	ABCA12	26154	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	ABCA12	26154	HP:0001006	Hypotrichosis
ORPHA:313	ABCA12	26154	HP:0000656	Ectropion
ORPHA:313	ABCA12	26154	HP:0008070	Sparse hair
ORPHA:313	ABCA12	26154	HP:0000958	Dry skin
ORPHA:313	ABCA12	26154	HP:0000989	Pruritus
ORPHA:313	ABCA12	26154	HP:0100679	Lack of skin elasticity
ORPHA:313	TGM1	7051	HP:0000962	Hyperkeratosis
ORPHA:313	TGM1	7051	HP:0000232	Everted lower lip vermilion
ORPHA:313	TGM1	7051	HP:0001019	Erythroderma
ORPHA:313	TGM1	7051	HP:0008064	Ichthyosis
ORPHA:313	TGM1	7051	HP:0011039	Abnormality of the helix
ORPHA:313	TGM1	7051	HP:0001597	Abnormality of the nail
ORPHA:313	TGM1	7051	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	TGM1	7051	HP:0001006	Hypotrichosis
ORPHA:313	TGM1	7051	HP:0000656	Ectropion
ORPHA:313	TGM1	7051	HP:0008070	Sparse hair
ORPHA:313	TGM1	7051	HP:0000958	Dry skin
ORPHA:313	TGM1	7051	HP:0000989	Pruritus
ORPHA:313	TGM1	7051	HP:0100679	Lack of skin elasticity
ORPHA:313	CYP4F22	126410	HP:0000962	Hyperkeratosis
ORPHA:313	CYP4F22	126410	HP:0000232	Everted lower lip vermilion
ORPHA:313	CYP4F22	126410	HP:0001019	Erythroderma
ORPHA:313	CYP4F22	126410	HP:0008064	Ichthyosis
ORPHA:313	CYP4F22	126410	HP:0011039	Abnormality of the helix
ORPHA:313	CYP4F22	126410	HP:0001597	Abnormality of the nail
ORPHA:313	CYP4F22	126410	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	CYP4F22	126410	HP:0001006	Hypotrichosis
ORPHA:313	CYP4F22	126410	HP:0000656	Ectropion
ORPHA:313	CYP4F22	126410	HP:0008070	Sparse hair
ORPHA:313	CYP4F22	126410	HP:0000958	Dry skin
ORPHA:313	CYP4F22	126410	HP:0000989	Pruritus
ORPHA:313	CYP4F22	126410	HP:0100679	Lack of skin elasticity
ORPHA:313	NIPAL4	348938	HP:0000962	Hyperkeratosis
ORPHA:313	NIPAL4	348938	HP:0000232	Everted lower lip vermilion
ORPHA:313	NIPAL4	348938	HP:0001019	Erythroderma
ORPHA:313	NIPAL4	348938	HP:0008064	Ichthyosis
ORPHA:313	NIPAL4	348938	HP:0011039	Abnormality of the helix
ORPHA:313	NIPAL4	348938	HP:0001597	Abnormality of the nail
ORPHA:313	NIPAL4	348938	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:313	NIPAL4	348938	HP:0001006	Hypotrichosis
ORPHA:313	NIPAL4	348938	HP:0000656	Ectropion
ORPHA:313	NIPAL4	348938	HP:0008070	Sparse hair
ORPHA:313	NIPAL4	348938	HP:0000958	Dry skin
ORPHA:313	NIPAL4	348938	HP:0000989	Pruritus
ORPHA:313	NIPAL4	348938	HP:0100679	Lack of skin elasticity
ORPHA:93388	BMPR1B	658	HP:0005819	Short middle phalanx of finger
ORPHA:93388	BMPR1B	658	HP:0009778	Short thumb
ORPHA:93388	BMPR1B	658	HP:0010579	Cone-shaped epiphysis
ORPHA:93388	BMPR1B	658	HP:0010109	Short hallux
ORPHA:93388	BMPR1B	658	HP:0001773	Short foot
ORPHA:93388	BMPR1B	658	HP:0004322	Short stature
ORPHA:93388	GDF5	8200	HP:0005819	Short middle phalanx of finger
ORPHA:93388	GDF5	8200	HP:0009778	Short thumb
ORPHA:93388	GDF5	8200	HP:0010579	Cone-shaped epiphysis
ORPHA:93388	GDF5	8200	HP:0010109	Short hallux
ORPHA:93388	GDF5	8200	HP:0001773	Short foot
ORPHA:93388	GDF5	8200	HP:0004322	Short stature
ORPHA:93388	IHH	3549	HP:0005819	Short middle phalanx of finger
ORPHA:93388	IHH	3549	HP:0009778	Short thumb
ORPHA:93388	IHH	3549	HP:0010579	Cone-shaped epiphysis
ORPHA:93388	IHH	3549	HP:0010109	Short hallux
ORPHA:93388	IHH	3549	HP:0001773	Short foot
ORPHA:93388	IHH	3549	HP:0004322	Short stature
ORPHA:1573	CDH3	1001	HP:0002299	Brittle hair
ORPHA:1573	CDH3	1001	HP:0008002	Abnormality of macular pigmentation
ORPHA:1573	CDH3	1001	HP:0004322	Short stature
ORPHA:1573	CDH3	1001	HP:0000608	Macular degeneration
ORPHA:1573	CDH3	1001	HP:0000618	Blindness
ORPHA:1573	CDH3	1001	HP:0003777	Pili torti
ORPHA:1573	CDH3	1001	HP:0002209	Sparse scalp hair
ORPHA:1573	CDH3	1001	HP:0002213	Fine hair
OMIM:608629	AHI1	54806	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608629	AHI1	54806	HP:0000090	Nephronophthisis
OMIM:608629	AHI1	54806	HP:0000556	Retinal dystrophy
OMIM:608629	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:608629	AHI1	54806	HP:0000194	Open mouth
OMIM:608629	AHI1	54806	HP:0000512	Abnormal electroretinogram
OMIM:608629	AHI1	54806	HP:0001270	Motor delay
OMIM:608629	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:608629	AHI1	54806	HP:0000463	Anteverted nares
OMIM:608629	AHI1	54806	HP:0000369	Low-set ears
OMIM:608629	AHI1	54806	HP:0000639	Nystagmus
OMIM:608629	AHI1	54806	HP:0002876	Episodic tachypnea
OMIM:608629	AHI1	54806	HP:0000286	Epicanthus
OMIM:608629	AHI1	54806	HP:0000580	Pigmentary retinopathy
OMIM:608629	AHI1	54806	HP:0001249	Intellectual disability
OMIM:608629	AHI1	54806	HP:0000505	Visual impairment
OMIM:608629	AHI1	54806	HP:0001251	Ataxia
OMIM:608629	AHI1	54806	HP:0001425	Heterogeneous
OMIM:608629	AHI1	54806	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608629	AHI1	54806	HP:0002790	Neonatal breathing dysregulation
OMIM:608629	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:608629	AHI1	54806	HP:0003774	Stage 5 chronic kidney disease
OMIM:608629	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:608629	AHI1	54806	HP:0002553	Highly arched eyebrow
OMIM:608629	AHI1	54806	HP:0002871	Central apnea
OMIM:608629	AHI1	54806	HP:0000508	Ptosis
OMIM:608629	AHI1	54806	HP:0000431	Wide nasal bridge
OMIM:608629	AHI1	54806	HP:0001290	Generalized hypotonia
ORPHA:281	SEMA5A	9037	HP:0000494	Downslanted palpebral fissures
ORPHA:281	SEMA5A	9037	HP:0000316	Hypertelorism
ORPHA:281	SEMA5A	9037	HP:0000218	High palate
ORPHA:281	SEMA5A	9037	HP:0002650	Scoliosis
ORPHA:281	SEMA5A	9037	HP:0001620	High pitched voice
ORPHA:281	SEMA5A	9037	HP:0000308	Microretrognathia
ORPHA:281	SEMA5A	9037	HP:0001511	Intrauterine growth retardation
ORPHA:281	SEMA5A	9037	HP:0000286	Epicanthus
ORPHA:281	SEMA5A	9037	HP:0000252	Microcephaly
ORPHA:281	SEMA5A	9037	HP:0000311	Round face
ORPHA:281	SEMA5A	9037	HP:0001252	Muscular hypotonia
ORPHA:281	SEMA5A	9037	HP:0200046	Cat cry
ORPHA:281	SEMA5A	9037	HP:0000431	Wide nasal bridge
ORPHA:281	SEMA5A	9037	HP:0010864	Intellectual disability, severe
ORPHA:281	SEMA5A	9037	HP:0011344	Severe global developmental delay
ORPHA:281	SEMA5A	9037	HP:0200055	Small hand
ORPHA:281	SEMA5A	9037	HP:0000470	Short neck
ORPHA:281	SEMA5A	9037	HP:0004322	Short stature
ORPHA:281	SEMA5A	9037	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:281	CTNND2	1501	HP:0000494	Downslanted palpebral fissures
ORPHA:281	CTNND2	1501	HP:0000316	Hypertelorism
ORPHA:281	CTNND2	1501	HP:0000218	High palate
ORPHA:281	CTNND2	1501	HP:0002650	Scoliosis
ORPHA:281	CTNND2	1501	HP:0001620	High pitched voice
ORPHA:281	CTNND2	1501	HP:0000308	Microretrognathia
ORPHA:281	CTNND2	1501	HP:0001511	Intrauterine growth retardation
ORPHA:281	CTNND2	1501	HP:0000286	Epicanthus
ORPHA:281	CTNND2	1501	HP:0000252	Microcephaly
ORPHA:281	CTNND2	1501	HP:0000311	Round face
ORPHA:281	CTNND2	1501	HP:0001252	Muscular hypotonia
ORPHA:281	CTNND2	1501	HP:0200046	Cat cry
ORPHA:281	CTNND2	1501	HP:0000431	Wide nasal bridge
ORPHA:281	CTNND2	1501	HP:0010864	Intellectual disability, severe
ORPHA:281	CTNND2	1501	HP:0011344	Severe global developmental delay
ORPHA:281	CTNND2	1501	HP:0200055	Small hand
ORPHA:281	CTNND2	1501	HP:0000470	Short neck
ORPHA:281	CTNND2	1501	HP:0004322	Short stature
ORPHA:281	CTNND2	1501	HP:0000368	Low-set, posteriorly rotated ears
OMIM:617141	ELP4	26610	HP:0000006	Autosomal dominant inheritance
OMIM:227500	F7	2155	HP:0000007	Autosomal recessive inheritance
OMIM:227500	F7	2155	HP:0002170	Intracranial hemorrhage
OMIM:227500	F7	2155	HP:0003828	Variable expressivity
OMIM:227500	F7	2155	HP:0000132	Menorrhagia
OMIM:227500	F7	2155	HP:0000421	Epistaxis
OMIM:227500	F7	2155	HP:0008169	Reduced factor VII activity
OMIM:227500	F7	2155	HP:0005261	Joint hemorrhage
OMIM:227500	F7	2155	HP:0012233	Intramuscular hematoma
OMIM:610048	DCN	1634	HP:0000529	Progressive visual loss
OMIM:610048	DCN	1634	HP:0008005	Congenital corneal dystrophy
OMIM:610048	DCN	1634	HP:0000006	Autosomal dominant inheritance
OMIM:610048	DCN	1634	HP:0011487	Increased corneal thickness
OMIM:614614	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:614614	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:254130	DYSF	8291	HP:0003551	Difficulty climbing stairs
OMIM:254130	DYSF	8291	HP:0003693	Distal amyotrophy
OMIM:254130	DYSF	8291	HP:0009072	Decreased Achilles reflex
OMIM:254130	DYSF	8291	HP:0010546	Muscle fibrillation
OMIM:254130	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:254130	DYSF	8291	HP:0200101	Decreased/absent ankle reflexes
OMIM:254130	DYSF	8291	HP:0002460	Distal muscle weakness
OMIM:254130	DYSF	8291	HP:0007340	Lower limb muscle weakness
OMIM:254130	DYSF	8291	HP:0003581	Adult onset
OMIM:254130	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:254130	DYSF	8291	HP:0003560	Muscular dystrophy
OMIM:254130	DYSF	8291	HP:0001425	Heterogeneous
OMIM:612952	SAMHD1	25939	HP:0000958	Dry skin
OMIM:612952	SAMHD1	25939	HP:0003040	Arthropathy
OMIM:612952	SAMHD1	25939	HP:0008936	Muscular hypotonia of the trunk
OMIM:612952	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:612952	SAMHD1	25939	HP:0002415	Leukodystrophy
OMIM:612952	SAMHD1	25939	HP:0009710	Chilblain lesions
OMIM:612952	SAMHD1	25939	HP:0001257	Spasticity
OMIM:612952	SAMHD1	25939	HP:0003828	Variable expressivity
OMIM:612952	SAMHD1	25939	HP:0000737	Irritability
OMIM:612952	SAMHD1	25939	HP:0002352	Leukoencephalopathy
OMIM:612952	SAMHD1	25939	HP:0007321	Deep white matter hypodensities
OMIM:612952	SAMHD1	25939	HP:0040189	Scaling skin
OMIM:612952	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:612952	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:612952	SAMHD1	25939	HP:0008872	Feeding difficulties in infancy
OMIM:612952	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:612952	SAMHD1	25939	HP:0001371	Flexion contracture
ORPHA:1782	SLC29A3	55315	HP:0000944	Abnormality of the metaphysis
ORPHA:1782	SLC29A3	55315	HP:0002514	Cerebral calcification
ORPHA:1782	SLC29A3	55315	HP:0100670	Rough bone trabeculation
ORPHA:1782	SLC29A3	55315	HP:0004322	Short stature
ORPHA:1782	SLC29A3	55315	HP:0004493	Craniofacial hyperostosis
ORPHA:1782	SLC29A3	55315	HP:0000639	Nystagmus
ORPHA:1782	SLC29A3	55315	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1782	SLC29A3	55315	HP:0000684	Delayed eruption of teeth
ORPHA:1782	SLC29A3	55315	HP:0000365	Hearing impairment
ORPHA:1782	SLC29A3	55315	HP:0000682	Abnormality of dental enamel
ORPHA:1782	SLC29A3	55315	HP:0001249	Intellectual disability
ORPHA:1782	SLC29A3	55315	HP:0001629	Ventricular septal defect
ORPHA:1782	SLC29A3	55315	HP:0000256	Macrocephaly
ORPHA:1782	SLC29A3	55315	HP:0002757	Recurrent fractures
ORPHA:1782	SLC29A3	55315	HP:0008479	Hypoplastic vertebral bodies
ORPHA:1782	SLC29A3	55315	HP:0011001	Increased bone mineral density
ORPHA:1782	SLC29A3	55315	HP:0000648	Optic atrophy
ORPHA:1782	SLC29A3	55315	HP:0000926	Platyspondyly
ORPHA:1782	SLC29A3	55315	HP:0001291	Abnormality of the cranial nerves
ORPHA:1782	SLC29A3	55315	HP:0000316	Hypertelorism
ORPHA:1782	SLC29A3	55315	HP:0003301	Irregular vertebral endplates
ORPHA:1782	SLC29A3	55315	HP:0002376	Developmental regression
OMIM:615615	CD3E	916	HP:0003593	Infantile onset
OMIM:615615	CD3E	916	HP:0002721	Immunodeficiency
OMIM:615615	CD3E	916	HP:0000007	Autosomal recessive inheritance
OMIM:615615	CD3E	916	HP:0045080	Decreased number of CD3+ T cells
OMIM:615615	CD3E	916	HP:0002205	Recurrent respiratory infections
OMIM:615615	CD3E	916	HP:0000403	Recurrent otitis media
OMIM:615615	CD3E	916	HP:0003828	Variable expressivity
OMIM:615989	BBS12	166379	HP:0010442	Polydactyly
OMIM:615989	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615989	BBS12	166379	HP:0000007	Autosomal recessive inheritance
OMIM:615989	BBS12	166379	HP:0001513	Obesity
OMIM:615989	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:136120	LCAT	3931	HP:0002155	Hypertriglyceridemia
OMIM:136120	LCAT	3931	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:136120	LCAT	3931	HP:0003141	Increased circulating low-density lipoprotein levels
OMIM:136120	LCAT	3931	HP:0007759	Opacification of the corneal stroma
OMIM:136120	LCAT	3931	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:136120	LCAT	3931	HP:0000007	Autosomal recessive inheritance
ORPHA:614	CLCN1	1180	HP:0003457	EMG abnormality
ORPHA:614	CLCN1	1180	HP:0002486	Myotonia
OMIM:266920	IFT140	9742	HP:0000090	Nephronophthisis
OMIM:266920	IFT140	9742	HP:0001395	Hepatic fibrosis
OMIM:266920	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:266920	IFT140	9742	HP:0000107	Renal cyst
OMIM:266920	IFT140	9742	HP:0001396	Cholestasis
OMIM:266920	IFT140	9742	HP:0004322	Short stature
OMIM:266920	IFT140	9742	HP:0003774	Stage 5 chronic kidney disease
OMIM:266920	IFT140	9742	HP:0000112	Nephropathy
OMIM:266920	IFT140	9742	HP:0000110	Renal dysplasia
OMIM:266920	IFT140	9742	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:266920	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:266920	IFT140	9742	HP:0001251	Ataxia
OMIM:266920	IFT140	9742	HP:0000639	Nystagmus
OMIM:266920	IFT140	9742	HP:0002240	Hepatomegaly
OMIM:266920	IFT140	9742	HP:0100864	Short femoral neck
OMIM:266920	IFT140	9742	HP:0003593	Infantile onset
OMIM:266920	IFT140	9742	HP:0001903	Anemia
OMIM:266920	IFT140	9742	HP:0000572	Visual loss
OMIM:266920	IFT140	9742	HP:0009803	Short phalanx of finger
OMIM:266920	IFT140	9742	HP:0010579	Cone-shaped epiphysis
OMIM:613953	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:255800	HSPG2	3339	HP:0006499	Abnormality of femoral epiphysis
OMIM:255800	HSPG2	3339	HP:0003016	Metaphyseal widening
OMIM:255800	HSPG2	3339	HP:0000347	Micrognathia
OMIM:255800	HSPG2	3339	HP:0012368	Flat face
OMIM:255800	HSPG2	3339	HP:0000272	Malar flattening
OMIM:255800	HSPG2	3339	HP:0000023	Inguinal hernia
OMIM:255800	HSPG2	3339	HP:0000939	Osteoporosis
OMIM:255800	HSPG2	3339	HP:0002230	Generalized hirsutism
OMIM:255800	HSPG2	3339	HP:0001537	Umbilical hernia
OMIM:255800	HSPG2	3339	HP:0009473	Joint contracture of the hand
OMIM:255800	HSPG2	3339	HP:0002047	Malignant hyperthermia
OMIM:255800	HSPG2	3339	HP:0002486	Myotonia
OMIM:255800	HSPG2	3339	HP:0001265	Hyporeflexia
OMIM:255800	HSPG2	3339	HP:0000482	Microcornea
OMIM:255800	HSPG2	3339	HP:0006473	Anterior bowing of long bones
OMIM:255800	HSPG2	3339	HP:0004322	Short stature
OMIM:255800	HSPG2	3339	HP:0000205	Pursed lips
OMIM:255800	HSPG2	3339	HP:0000470	Short neck
OMIM:255800	HSPG2	3339	HP:0003712	Skeletal muscle hypertrophy
OMIM:255800	HSPG2	3339	HP:0000293	Full cheeks
OMIM:255800	HSPG2	3339	HP:0002673	Coxa valga
OMIM:255800	HSPG2	3339	HP:0000768	Pectus carinatum
OMIM:255800	HSPG2	3339	HP:0001239	Wrist flexion contracture
OMIM:255800	HSPG2	3339	HP:0000518	Cataract
OMIM:255800	HSPG2	3339	HP:0001374	Congenital hip dislocation
OMIM:255800	HSPG2	3339	HP:0002812	Coxa vara
OMIM:255800	HSPG2	3339	HP:0005830	Flexion contracture of toe
OMIM:255800	HSPG2	3339	HP:0003044	Shoulder flexion contracture
OMIM:255800	HSPG2	3339	HP:0000926	Platyspondyly
OMIM:255800	HSPG2	3339	HP:0001763	Pes planus
OMIM:255800	HSPG2	3339	HP:0001249	Intellectual disability
OMIM:255800	HSPG2	3339	HP:0001620	High pitched voice
OMIM:255800	HSPG2	3339	HP:0002751	Kyphoscoliosis
OMIM:255800	HSPG2	3339	HP:0000369	Low-set ears
OMIM:255800	HSPG2	3339	HP:0003273	Hip contracture
OMIM:255800	HSPG2	3339	HP:0003202	Skeletal muscle atrophy
OMIM:255800	HSPG2	3339	HP:0000396	Overfolded helix
OMIM:255800	HSPG2	3339	HP:0001762	Talipes equinovarus
OMIM:255800	HSPG2	3339	HP:0001324	Muscle weakness
OMIM:255800	HSPG2	3339	HP:0000160	Narrow mouth
OMIM:255800	HSPG2	3339	HP:0001621	Weak voice
OMIM:255800	HSPG2	3339	HP:0002750	Delayed skeletal maturation
OMIM:255800	HSPG2	3339	HP:0007740	Long eyelashes in irregular rows
OMIM:255800	HSPG2	3339	HP:0008734	Decreased testicular size
OMIM:255800	HSPG2	3339	HP:0003417	Coronal cleft vertebrae
OMIM:255800	HSPG2	3339	HP:0000007	Autosomal recessive inheritance
OMIM:255800	HSPG2	3339	HP:0000508	Ptosis
OMIM:255800	HSPG2	3339	HP:0002938	Lumbar hyperlordosis
OMIM:255800	HSPG2	3339	HP:0000545	Myopia
OMIM:255800	HSPG2	3339	HP:0000581	Blepharophimosis
OMIM:606054	PCCA	5095	HP:0002059	Cerebral atrophy
OMIM:606054	PCCA	5095	HP:0000939	Osteoporosis
OMIM:606054	PCCA	5095	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:606054	PCCA	5095	HP:0002509	Limb hypertonia
OMIM:606054	PCCA	5095	HP:0001250	Seizures
OMIM:606054	PCCA	5095	HP:0000007	Autosomal recessive inheritance
OMIM:606054	PCCA	5095	HP:0001332	Dystonia
OMIM:606054	PCCA	5095	HP:0001873	Thrombocytopenia
OMIM:606054	PCCA	5095	HP:0008936	Muscular hypotonia of the trunk
OMIM:606054	PCCA	5095	HP:0002019	Constipation
OMIM:606054	PCCA	5095	HP:0003128	Lactic acidosis
OMIM:606054	PCCA	5095	HP:0002154	Hyperglycinemia
OMIM:606054	PCCA	5095	HP:0004396	Poor appetite
OMIM:606054	PCCA	5095	HP:0004322	Short stature
OMIM:606054	PCCA	5095	HP:0001987	Hyperammonemia
OMIM:606054	PCCA	5095	HP:0001254	Lethargy
OMIM:606054	PCCA	5095	HP:0000964	Eczema
OMIM:606054	PCCA	5095	HP:0006846	Acute encephalopathy
OMIM:606054	PCCA	5095	HP:0001944	Dehydration
OMIM:606054	PCCA	5095	HP:0001943	Hypoglycemia
OMIM:606054	PCCA	5095	HP:0001508	Failure to thrive
OMIM:606054	PCCA	5095	HP:0001876	Pancytopenia
OMIM:606054	PCCA	5095	HP:0001259	Coma
OMIM:606054	PCCA	5095	HP:0002013	Vomiting
OMIM:606054	PCCA	5095	HP:0002789	Tachypnea
OMIM:606054	PCCA	5095	HP:0001875	Neutropenia
OMIM:606054	PCCA	5095	HP:0001733	Pancreatitis
OMIM:606054	PCCA	5095	HP:0001638	Cardiomyopathy
OMIM:606054	PCCA	5095	HP:0002104	Apnea
OMIM:606054	PCCA	5095	HP:0001942	Metabolic acidosis
OMIM:606054	PCCA	5095	HP:0002240	Hepatomegaly
OMIM:606054	PCCA	5095	HP:0003108	Hyperglycinuria
OMIM:606054	PCCA	5095	HP:0008872	Feeding difficulties in infancy
OMIM:606054	PCCA	5095	HP:0001903	Anemia
OMIM:606054	PCCA	5095	HP:0001263	Global developmental delay
OMIM:606054	PCCB	5096	HP:0002059	Cerebral atrophy
OMIM:606054	PCCB	5096	HP:0000939	Osteoporosis
OMIM:606054	PCCB	5096	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:606054	PCCB	5096	HP:0002509	Limb hypertonia
OMIM:606054	PCCB	5096	HP:0001250	Seizures
OMIM:606054	PCCB	5096	HP:0000007	Autosomal recessive inheritance
OMIM:606054	PCCB	5096	HP:0001332	Dystonia
OMIM:606054	PCCB	5096	HP:0001873	Thrombocytopenia
OMIM:606054	PCCB	5096	HP:0008936	Muscular hypotonia of the trunk
OMIM:606054	PCCB	5096	HP:0002019	Constipation
OMIM:606054	PCCB	5096	HP:0003128	Lactic acidosis
OMIM:606054	PCCB	5096	HP:0002154	Hyperglycinemia
OMIM:606054	PCCB	5096	HP:0004396	Poor appetite
OMIM:606054	PCCB	5096	HP:0004322	Short stature
OMIM:606054	PCCB	5096	HP:0001987	Hyperammonemia
OMIM:606054	PCCB	5096	HP:0001254	Lethargy
OMIM:606054	PCCB	5096	HP:0000964	Eczema
OMIM:606054	PCCB	5096	HP:0006846	Acute encephalopathy
OMIM:606054	PCCB	5096	HP:0001944	Dehydration
OMIM:606054	PCCB	5096	HP:0001943	Hypoglycemia
OMIM:606054	PCCB	5096	HP:0001508	Failure to thrive
OMIM:606054	PCCB	5096	HP:0001876	Pancytopenia
OMIM:606054	PCCB	5096	HP:0001259	Coma
OMIM:606054	PCCB	5096	HP:0002013	Vomiting
OMIM:606054	PCCB	5096	HP:0002789	Tachypnea
OMIM:606054	PCCB	5096	HP:0001875	Neutropenia
OMIM:606054	PCCB	5096	HP:0001733	Pancreatitis
OMIM:606054	PCCB	5096	HP:0001638	Cardiomyopathy
OMIM:606054	PCCB	5096	HP:0002104	Apnea
OMIM:606054	PCCB	5096	HP:0001942	Metabolic acidosis
OMIM:606054	PCCB	5096	HP:0002240	Hepatomegaly
OMIM:606054	PCCB	5096	HP:0003108	Hyperglycinuria
OMIM:606054	PCCB	5096	HP:0008872	Feeding difficulties in infancy
OMIM:606054	PCCB	5096	HP:0001903	Anemia
OMIM:606054	PCCB	5096	HP:0001263	Global developmental delay
ORPHA:163	FTL	2512	HP:0000518	Cataract
ORPHA:163	FTL	2512	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:108120	TPM2	7169	HP:0001425	Heterogeneous
OMIM:108120	TPM2	7169	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:108120	TPM2	7169	HP:0012385	Camptodactyly
OMIM:108120	TPM2	7169	HP:0002987	Elbow flexion contracture
OMIM:608895	FBLN5	10516	HP:0011510	Drusen
OMIM:608895	FBLN5	10516	HP:0001761	Pes cavus
OMIM:608895	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:608895	FBLN5	10516	HP:0011506	Choroidal neovascularization
OMIM:608895	FBLN5	10516	HP:0002936	Distal sensory impairment
ORPHA:3437	FAS	355	HP:0001053	Hypopigmented skin patches
ORPHA:3437	FAS	355	HP:0000518	Cataract
ORPHA:3437	FAS	355	HP:0002209	Sparse scalp hair
ORPHA:3437	FAS	355	HP:0002290	Poliosis
ORPHA:3437	FAS	355	HP:0100543	Cognitive impairment
ORPHA:3437	FAS	355	HP:0000407	Sensorineural hearing impairment
ORPHA:3437	FAS	355	HP:0001045	Vitiligo
ORPHA:3437	FAS	355	HP:0000501	Glaucoma
ORPHA:3437	FAS	355	HP:0000541	Retinal detachment
ORPHA:3437	FAS	355	HP:0000499	Abnormality of the eyelashes
ORPHA:3437	FAS	355	HP:0004322	Short stature
ORPHA:3437	FAS	355	HP:0000534	Abnormality of the eyebrow
ORPHA:3437	FAS	355	HP:0000505	Visual impairment
ORPHA:3437	FAS	355	HP:0002216	Premature graying of hair
ORPHA:3437	PTPN22	26191	HP:0001053	Hypopigmented skin patches
ORPHA:3437	PTPN22	26191	HP:0000518	Cataract
ORPHA:3437	PTPN22	26191	HP:0002209	Sparse scalp hair
ORPHA:3437	PTPN22	26191	HP:0002290	Poliosis
ORPHA:3437	PTPN22	26191	HP:0100543	Cognitive impairment
ORPHA:3437	PTPN22	26191	HP:0000407	Sensorineural hearing impairment
ORPHA:3437	PTPN22	26191	HP:0001045	Vitiligo
ORPHA:3437	PTPN22	26191	HP:0000501	Glaucoma
ORPHA:3437	PTPN22	26191	HP:0000541	Retinal detachment
ORPHA:3437	PTPN22	26191	HP:0000499	Abnormality of the eyelashes
ORPHA:3437	PTPN22	26191	HP:0004322	Short stature
ORPHA:3437	PTPN22	26191	HP:0000534	Abnormality of the eyebrow
ORPHA:3437	PTPN22	26191	HP:0000505	Visual impairment
ORPHA:3437	PTPN22	26191	HP:0002216	Premature graying of hair
ORPHA:174	COL10A1	1300	HP:0002007	Frontal bossing
ORPHA:174	COL10A1	1300	HP:0000365	Hearing impairment
ORPHA:174	COL10A1	1300	HP:0002970	Genu varum
ORPHA:174	COL10A1	1300	HP:0001363	Craniosynostosis
ORPHA:174	COL10A1	1300	HP:0000347	Micrognathia
ORPHA:174	COL10A1	1300	HP:0000944	Abnormality of the metaphysis
ORPHA:174	COL10A1	1300	HP:0002812	Coxa vara
ORPHA:174	COL10A1	1300	HP:0004348	Abnormality of bone mineral density
ORPHA:174	COL10A1	1300	HP:0008848	Moderately short stature
ORPHA:174	COL10A1	1300	HP:0003072	Hypercalcemia
ORPHA:174	COL10A1	1300	HP:0009826	Limb undergrowth
ORPHA:174	COL10A1	1300	HP:0001156	Brachydactyly
ORPHA:174	COL10A1	1300	HP:0005019	Diaphyseal thickening
OMIM:607259	SPG7	6687	HP:0000006	Autosomal dominant inheritance
OMIM:607259	SPG7	6687	HP:0000648	Optic atrophy
OMIM:607259	SPG7	6687	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:607259	SPG7	6687	HP:0000639	Nystagmus
OMIM:607259	SPG7	6687	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:607259	SPG7	6687	HP:0002120	Cerebral cortical atrophy
OMIM:607259	SPG7	6687	HP:0001272	Cerebellar atrophy
OMIM:607259	SPG7	6687	HP:0001761	Pes cavus
OMIM:607259	SPG7	6687	HP:0002354	Memory impairment
OMIM:607259	SPG7	6687	HP:0000007	Autosomal recessive inheritance
OMIM:607259	SPG7	6687	HP:0001260	Dysarthria
OMIM:607259	SPG7	6687	HP:0002650	Scoliosis
OMIM:607259	SPG7	6687	HP:0002064	Spastic gait
OMIM:607259	SPG7	6687	HP:0001258	Spastic paraplegia
OMIM:607259	SPG7	6687	HP:0007340	Lower limb muscle weakness
OMIM:607259	SPG7	6687	HP:0000012	Urinary urgency
OMIM:607259	SPG7	6687	HP:0002061	Lower limb spasticity
OMIM:607259	SPG7	6687	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:607259	SPG7	6687	HP:0002066	Gait ataxia
OMIM:607259	SPG7	6687	HP:0003487	Babinski sign
OMIM:607259	SPG7	6687	HP:0002015	Dysphagia
OMIM:607259	SPG7	6687	HP:0003581	Adult onset
OMIM:607259	SPG7	6687	HP:0000020	Urinary incontinence
OMIM:607259	SPG7	6687	HP:0001347	Hyperreflexia
OMIM:615541	TTI2	80185	HP:0000400	Macrotia
OMIM:615541	TTI2	80185	HP:0000448	Prominent nose
OMIM:615541	TTI2	80185	HP:0000340	Sloping forehead
OMIM:615541	TTI2	80185	HP:0000664	Synophrys
OMIM:615541	TTI2	80185	HP:0000007	Autosomal recessive inheritance
OMIM:615541	TTI2	80185	HP:0000733	Stereotypy
OMIM:615541	TTI2	80185	HP:0001249	Intellectual disability
OMIM:615541	TTI2	80185	HP:0040080	Anteverted ears
OMIM:615541	TTI2	80185	HP:0004322	Short stature
OMIM:615541	TTI2	80185	HP:0000718	Aggressive behavior
OMIM:615541	TTI2	80185	HP:0002751	Kyphoscoliosis
OMIM:615541	TTI2	80185	HP:0000490	Deeply set eye
OMIM:615541	TTI2	80185	HP:0000252	Microcephaly
OMIM:615541	TTI2	80185	HP:0000752	Hyperactivity
OMIM:615541	TTI2	80185	HP:0003593	Infantile onset
OMIM:615541	TTI2	80185	HP:0000486	Strabismus
OMIM:615541	TTI2	80185	HP:0000750	Delayed speech and language development
OMIM:615541	TTI2	80185	HP:0001263	Global developmental delay
OMIM:615008	DGKE	8526	HP:0000100	Nephrotic syndrome
OMIM:615008	DGKE	8526	HP:0000093	Proteinuria
OMIM:615008	DGKE	8526	HP:0000007	Autosomal recessive inheritance
OMIM:615008	DGKE	8526	HP:0003676	Progressive
OMIM:615008	DGKE	8526	HP:0001919	Acute kidney injury
OMIM:615008	DGKE	8526	HP:0004722	Thickening of the glomerular basement membrane
ORPHA:314652	B2M	567	HP:0002607	Bowel incontinence
ORPHA:314652	B2M	567	HP:0005341	Autonomic bladder dysfunction
ORPHA:314652	B2M	567	HP:0001097	Keratoconjunctivitis sicca
ORPHA:314652	B2M	567	HP:0002271	Autonomic dysregulation
ORPHA:314652	B2M	567	HP:0002254	Intermittent diarrhea
ORPHA:314652	B2M	567	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
ORPHA:314652	B2M	567	HP:0002028	Chronic diarrhea
ORPHA:314652	B2M	567	HP:0002239	Gastrointestinal hemorrhage
ORPHA:314652	B2M	567	HP:0000217	Xerostomia
ORPHA:314652	B2M	567	HP:0002579	Gastrointestinal dysmotility
ORPHA:314652	B2M	567	HP:0001824	Weight loss
ORPHA:314652	B2M	567	HP:0002024	Malabsorption
ORPHA:314652	B2M	567	HP:0012450	Chronic constipation
ORPHA:314652	B2M	567	HP:0002321	Vertigo
OMIM:106260	TP63	8626	HP:0000431	Wide nasal bridge
OMIM:106260	TP63	8626	HP:0000405	Conductive hearing impairment
OMIM:106260	TP63	8626	HP:0002231	Sparse body hair
OMIM:106260	TP63	8626	HP:0000698	Conical tooth
OMIM:106260	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:106260	TP63	8626	HP:0000413	Atresia of the external auditory canal
OMIM:106260	TP63	8626	HP:0000498	Blepharitis
OMIM:106260	TP63	8626	HP:0000970	Anhidrosis
OMIM:106260	TP63	8626	HP:0000175	Cleft palate
OMIM:106260	TP63	8626	HP:0000707	Abnormality of the nervous system
OMIM:106260	TP63	8626	HP:0000668	Hypodontia
OMIM:106260	TP63	8626	HP:0001798	Anonychia
OMIM:106260	TP63	8626	HP:0000054	Micropenis
OMIM:106260	TP63	8626	HP:0000509	Conjunctivitis
OMIM:106260	TP63	8626	HP:0000687	Widely spaced teeth
OMIM:106260	TP63	8626	HP:0000653	Sparse eyelashes
OMIM:106260	TP63	8626	HP:0009755	Ankyloblepharon
OMIM:106260	TP63	8626	HP:0000953	Hyperpigmentation of the skin
OMIM:106260	TP63	8626	HP:0000047	Hypospadias
OMIM:106260	TP63	8626	HP:0002232	Patchy alopecia
OMIM:106260	TP63	8626	HP:0000982	Palmoplantar keratoderma
OMIM:106260	TP63	8626	HP:0000564	Lacrimal duct atresia
OMIM:106260	TP63	8626	HP:0008404	Nail dystrophy
OMIM:106260	TP63	8626	HP:0000204	Cleft upper lip
OMIM:106260	TP63	8626	HP:0000300	Oval face
OMIM:106260	TP63	8626	HP:0002558	Supernumerary nipple
OMIM:106260	TP63	8626	HP:0000561	Absent eyelashes
OMIM:106260	TP63	8626	HP:0001629	Ventricular septal defect
OMIM:106260	TP63	8626	HP:0004691	2-3 toe syndactyly
OMIM:106260	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:106260	TP63	8626	HP:0031088	Vaginal dryness
OMIM:106260	TP63	8626	HP:0001795	Hyperconvex nail
OMIM:106260	TP63	8626	HP:0001643	Patent ductus arteriosus
OMIM:106260	TP63	8626	HP:0001592	Selective tooth agenesis
ORPHA:2671	PSAT1	29968	HP:0000520	Proptosis
ORPHA:2671	PSAT1	29968	HP:0002126	Polymicrogyria
ORPHA:2671	PSAT1	29968	HP:0012471	Thick vermilion border
ORPHA:2671	PSAT1	29968	HP:0002179	Opisthotonus
ORPHA:2671	PSAT1	29968	HP:0001321	Cerebellar hypoplasia
ORPHA:2671	PSAT1	29968	HP:0003202	Skeletal muscle atrophy
ORPHA:2671	PSAT1	29968	HP:0001511	Intrauterine growth retardation
ORPHA:2671	PSAT1	29968	HP:0001561	Polyhydramnios
ORPHA:2671	PSAT1	29968	HP:0001331	Absent septum pellucidum
ORPHA:2671	PSAT1	29968	HP:0000211	Trismus
ORPHA:2671	PSAT1	29968	HP:0003560	Muscular dystrophy
ORPHA:2671	PSAT1	29968	HP:0000062	Ambiguous genitalia
ORPHA:2671	PSAT1	29968	HP:0100679	Lack of skin elasticity
ORPHA:2671	PSAT1	29968	HP:0003241	External genital hypoplasia
ORPHA:2671	PSAT1	29968	HP:0000457	Depressed nasal ridge
ORPHA:2671	PSAT1	29968	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:2671	PSAT1	29968	HP:0001339	Lissencephaly
ORPHA:2671	PSAT1	29968	HP:0008064	Ichthyosis
ORPHA:2671	PSAT1	29968	HP:0001302	Pachygyria
ORPHA:2671	PSAT1	29968	HP:0000288	Abnormality of the philtrum
ORPHA:2671	PSAT1	29968	HP:0000232	Everted lower lip vermilion
ORPHA:2671	PSAT1	29968	HP:0000400	Macrotia
ORPHA:2671	PSAT1	29968	HP:0000316	Hypertelorism
ORPHA:2671	PSAT1	29968	HP:0001176	Large hands
ORPHA:2671	PSAT1	29968	HP:0000135	Hypogonadism
ORPHA:2671	PSAT1	29968	HP:0003394	Muscle cramps
ORPHA:2671	PSAT1	29968	HP:0000340	Sloping forehead
ORPHA:2671	PSAT1	29968	HP:0007227	Macrogyria
ORPHA:2671	PSAT1	29968	HP:0001305	Dandy-Walker malformation
ORPHA:2671	PSAT1	29968	HP:0001558	Decreased fetal movement
ORPHA:2671	PSAT1	29968	HP:0001769	Broad foot
ORPHA:2671	PSAT1	29968	HP:0000252	Microcephaly
ORPHA:2671	PHGDH	26227	HP:0000520	Proptosis
ORPHA:2671	PHGDH	26227	HP:0002126	Polymicrogyria
ORPHA:2671	PHGDH	26227	HP:0012471	Thick vermilion border
ORPHA:2671	PHGDH	26227	HP:0002179	Opisthotonus
ORPHA:2671	PHGDH	26227	HP:0001321	Cerebellar hypoplasia
ORPHA:2671	PHGDH	26227	HP:0003202	Skeletal muscle atrophy
ORPHA:2671	PHGDH	26227	HP:0001511	Intrauterine growth retardation
ORPHA:2671	PHGDH	26227	HP:0001561	Polyhydramnios
ORPHA:2671	PHGDH	26227	HP:0001331	Absent septum pellucidum
ORPHA:2671	PHGDH	26227	HP:0000211	Trismus
ORPHA:2671	PHGDH	26227	HP:0003560	Muscular dystrophy
ORPHA:2671	PHGDH	26227	HP:0000062	Ambiguous genitalia
ORPHA:2671	PHGDH	26227	HP:0100679	Lack of skin elasticity
ORPHA:2671	PHGDH	26227	HP:0003241	External genital hypoplasia
ORPHA:2671	PHGDH	26227	HP:0000457	Depressed nasal ridge
ORPHA:2671	PHGDH	26227	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:2671	PHGDH	26227	HP:0001339	Lissencephaly
ORPHA:2671	PHGDH	26227	HP:0008064	Ichthyosis
ORPHA:2671	PHGDH	26227	HP:0001302	Pachygyria
ORPHA:2671	PHGDH	26227	HP:0000288	Abnormality of the philtrum
ORPHA:2671	PHGDH	26227	HP:0000232	Everted lower lip vermilion
ORPHA:2671	PHGDH	26227	HP:0000400	Macrotia
ORPHA:2671	PHGDH	26227	HP:0000316	Hypertelorism
ORPHA:2671	PHGDH	26227	HP:0001176	Large hands
ORPHA:2671	PHGDH	26227	HP:0000135	Hypogonadism
ORPHA:2671	PHGDH	26227	HP:0003394	Muscle cramps
ORPHA:2671	PHGDH	26227	HP:0000340	Sloping forehead
ORPHA:2671	PHGDH	26227	HP:0007227	Macrogyria
ORPHA:2671	PHGDH	26227	HP:0001305	Dandy-Walker malformation
ORPHA:2671	PHGDH	26227	HP:0001558	Decreased fetal movement
ORPHA:2671	PHGDH	26227	HP:0001769	Broad foot
ORPHA:2671	PHGDH	26227	HP:0000252	Microcephaly
OMIM:602390	HFE2	148738	HP:0001644	Dilated cardiomyopathy
OMIM:602390	HFE2	148738	HP:0000789	Infertility
OMIM:602390	HFE2	148738	HP:0001254	Lethargy
OMIM:602390	HFE2	148738	HP:0000007	Autosomal recessive inheritance
OMIM:602390	HFE2	148738	HP:0001369	Arthritis
OMIM:602390	HFE2	148738	HP:0011462	Young adult onset
OMIM:602390	HFE2	148738	HP:0000953	Hyperpigmentation of the skin
OMIM:602390	HFE2	148738	HP:0000141	Amenorrhea
OMIM:602390	HFE2	148738	HP:0001635	Congestive heart failure
OMIM:602390	HFE2	148738	HP:0011675	Arrhythmia
OMIM:602390	HFE2	148738	HP:0000027	Azoospermia
OMIM:602390	HFE2	148738	HP:0001744	Splenomegaly
OMIM:617101	BCL11A	53335	HP:0000494	Downslanted palpebral fissures
OMIM:617101	BCL11A	53335	HP:0001382	Joint hypermobility
OMIM:617101	BCL11A	53335	HP:0000286	Epicanthus
OMIM:617101	BCL11A	53335	HP:0001249	Intellectual disability
OMIM:617101	BCL11A	53335	HP:0000219	Thin upper lip vermilion
OMIM:617101	BCL11A	53335	HP:0000232	Everted lower lip vermilion
OMIM:617101	BCL11A	53335	HP:0003577	Congenital onset
OMIM:617101	BCL11A	53335	HP:0011800	Midface retrusion
OMIM:617101	BCL11A	53335	HP:0000396	Overfolded helix
OMIM:617101	BCL11A	53335	HP:0000486	Strabismus
OMIM:617101	BCL11A	53335	HP:0000006	Autosomal dominant inheritance
OMIM:617101	BCL11A	53335	HP:0000369	Low-set ears
OMIM:617101	BCL11A	53335	HP:0000252	Microcephaly
OMIM:617101	BCL11A	53335	HP:0000278	Retrognathia
OMIM:617101	BCL11A	53335	HP:0000378	Cupped ear
OMIM:617101	BCL11A	53335	HP:0001263	Global developmental delay
OMIM:606893	ELMO2	63916	HP:0000520	Proptosis
OMIM:606893	ELMO2	63916	HP:0000007	Autosomal recessive inheritance
OMIM:606893	ELMO2	63916	HP:0003155	Elevated alkaline phosphatase
OMIM:606893	ELMO2	63916	HP:0000572	Visual loss
OMIM:606893	ELMO2	63916	HP:0001537	Umbilical hernia
OMIM:606893	ELMO2	63916	HP:0000225	Gingival bleeding
ORPHA:1568	AP1S2	8905	HP:0002119	Ventriculomegaly
ORPHA:1568	AP1S2	8905	HP:0000256	Macrocephaly
ORPHA:1568	AP1S2	8905	HP:0000486	Strabismus
ORPHA:1568	AP1S2	8905	HP:0000023	Inguinal hernia
ORPHA:1568	AP1S2	8905	HP:0002120	Cerebral cortical atrophy
ORPHA:1568	AP1S2	8905	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1568	AP1S2	8905	HP:0000028	Cryptorchidism
OMIM:614075	HPS6	79803	HP:0000421	Epistaxis
OMIM:614075	HPS6	79803	HP:0001107	Ocular albinism
OMIM:614075	HPS6	79803	HP:0001022	Albinism
OMIM:614075	HPS6	79803	HP:0004866	Impaired ADP-induced platelet aggregation
OMIM:614075	HPS6	79803	HP:0000007	Autosomal recessive inheritance
OMIM:614075	HPS6	79803	HP:0011883	Abnormal platelet granules
OMIM:301900	PHF6	84295	HP:0001250	Seizures
OMIM:301900	PHF6	84295	HP:0002808	Kyphosis
OMIM:301900	PHF6	84295	HP:0001513	Obesity
OMIM:301900	PHF6	84295	HP:0001419	X-linked recessive inheritance
OMIM:301900	PHF6	84295	HP:0002684	Thickened calvaria
OMIM:301900	PHF6	84295	HP:0001290	Generalized hypotonia
OMIM:301900	PHF6	84295	HP:0000823	Delayed puberty
OMIM:301900	PHF6	84295	HP:0008478	Scheuermann-like vertebral changes
OMIM:301900	PHF6	84295	HP:0000252	Microcephaly
OMIM:301900	PHF6	84295	HP:0002650	Scoliosis
OMIM:301900	PHF6	84295	HP:0010864	Intellectual disability, severe
OMIM:301900	PHF6	84295	HP:0001182	Tapered finger
OMIM:301900	PHF6	84295	HP:0000505	Visual impairment
OMIM:301900	PHF6	84295	HP:0000400	Macrotia
OMIM:301900	PHF6	84295	HP:0000336	Prominent supraorbital ridges
OMIM:301900	PHF6	84295	HP:0006118	Shortening of all distal phalanges of the fingers
OMIM:301900	PHF6	84295	HP:0000581	Blepharophimosis
OMIM:301900	PHF6	84295	HP:0000639	Nystagmus
OMIM:301900	PHF6	84295	HP:0000280	Coarse facial features
OMIM:301900	PHF6	84295	HP:0008094	Widely spaced toes
OMIM:301900	PHF6	84295	HP:0000490	Deeply set eye
OMIM:301900	PHF6	84295	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:301900	PHF6	84295	HP:0001831	Short toe
OMIM:301900	PHF6	84295	HP:0000028	Cryptorchidism
OMIM:301900	PHF6	84295	HP:0002353	EEG abnormality
OMIM:301900	PHF6	84295	HP:0000771	Gynecomastia
OMIM:301900	PHF6	84295	HP:0008687	Hypoplasia of the prostate
OMIM:301900	PHF6	84295	HP:0008445	Cervical spinal canal stenosis
OMIM:301900	PHF6	84295	HP:0000054	Micropenis
OMIM:301900	PHF6	84295	HP:0000508	Ptosis
OMIM:301900	PHF6	84295	HP:0004322	Short stature
OMIM:613244	EPCAM	4072	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:245340	SLC16A1	6566	HP:0003236	Elevated serum creatine phosphokinase
OMIM:245340	SLC16A1	6566	HP:0008967	Exercise-induced muscle stiffness
OMIM:245340	SLC16A1	6566	HP:0000006	Autosomal dominant inheritance
OMIM:245340	SLC16A1	6566	HP:0003710	Exercise-induced muscle cramps
OMIM:245340	SLC16A1	6566	HP:0009020	Exercise-induced muscle fatigue
ORPHA:93473	IDUA	3425	HP:0008155	Mucopolysacchariduria
ORPHA:93473	IDUA	3425	HP:0003468	Abnormal vertebral morphology
ORPHA:93473	IDUA	3425	HP:0001654	Abnormality of the heart valves
ORPHA:93473	IDUA	3425	HP:0100765	Abnormality of the tonsils
ORPHA:93473	IDUA	3425	HP:0002650	Scoliosis
ORPHA:93473	IDUA	3425	HP:0000238	Hydrocephalus
ORPHA:93473	IDUA	3425	HP:0000365	Hearing impairment
ORPHA:93473	IDUA	3425	HP:0001522	Death in infancy
ORPHA:93473	IDUA	3425	HP:0012471	Thick vermilion border
ORPHA:93473	IDUA	3425	HP:0100021	Cerebral palsy
ORPHA:93473	IDUA	3425	HP:0000463	Anteverted nares
ORPHA:93473	IDUA	3425	HP:0011968	Feeding difficulties
ORPHA:93473	IDUA	3425	HP:0000470	Short neck
ORPHA:93473	IDUA	3425	HP:0000574	Thick eyebrow
ORPHA:93473	IDUA	3425	HP:0009811	Abnormality of the elbow
ORPHA:93473	IDUA	3425	HP:0001376	Limitation of joint mobility
ORPHA:93473	IDUA	3425	HP:0002360	Sleep disturbance
ORPHA:93473	IDUA	3425	HP:0000501	Glaucoma
ORPHA:93473	IDUA	3425	HP:0002240	Hepatomegaly
ORPHA:93473	IDUA	3425	HP:0001744	Splenomegaly
ORPHA:93473	IDUA	3425	HP:0002652	Skeletal dysplasia
ORPHA:93473	IDUA	3425	HP:0001249	Intellectual disability
ORPHA:93473	IDUA	3425	HP:0007957	Corneal opacity
ORPHA:93473	IDUA	3425	HP:0012384	Rhinitis
ORPHA:93473	IDUA	3425	HP:0000431	Wide nasal bridge
ORPHA:93473	IDUA	3425	HP:0100490	Camptodactyly of finger
ORPHA:93473	IDUA	3425	HP:0000772	Abnormality of the ribs
ORPHA:93473	IDUA	3425	HP:0000889	Abnormality of the clavicle
ORPHA:93473	IDUA	3425	HP:0000280	Coarse facial features
ORPHA:93473	IDUA	3425	HP:0003275	Narrow pelvis bone
ORPHA:93473	IDUA	3425	HP:0000293	Full cheeks
ORPHA:93473	IDUA	3425	HP:0000488	Retinopathy
ORPHA:93473	IDUA	3425	HP:0000822	Hypertension
ORPHA:93473	IDUA	3425	HP:0001263	Global developmental delay
ORPHA:93473	IDUA	3425	HP:0001638	Cardiomyopathy
ORPHA:93473	IDUA	3425	HP:0000716	Depressivity
ORPHA:93473	IDUA	3425	HP:0004322	Short stature
ORPHA:93473	IDUA	3425	HP:0000940	Abnormal diaphysis morphology
ORPHA:93473	IDUA	3425	HP:0000232	Everted lower lip vermilion
ORPHA:93473	IDUA	3425	HP:0005280	Depressed nasal bridge
ORPHA:93473	IDUA	3425	HP:0000268	Dolichocephaly
ORPHA:93473	IDUA	3425	HP:0001252	Muscular hypotonia
ORPHA:93473	IDUA	3425	HP:0002205	Recurrent respiratory infections
ORPHA:93473	IDUA	3425	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93473	IDUA	3425	HP:0002007	Frontal bossing
ORPHA:93473	IDUA	3425	HP:0100729	Large face
ORPHA:93473	IDUA	3425	HP:0000158	Macroglossia
ORPHA:93473	IDUA	3425	HP:0002028	Chronic diarrhea
ORPHA:93473	IDUA	3425	HP:0002230	Generalized hirsutism
ORPHA:93473	IDUA	3425	HP:0100790	Hernia
ORPHA:86309	DPAGT1	1798	HP:0000252	Microcephaly
ORPHA:86309	DPAGT1	1798	HP:0001252	Muscular hypotonia
ORPHA:86309	DPAGT1	1798	HP:0004209	Clinodactyly of the 5th finger
ORPHA:86309	DPAGT1	1798	HP:0001263	Global developmental delay
ORPHA:86309	DPAGT1	1798	HP:0001250	Seizures
ORPHA:86309	DPAGT1	1798	HP:0001249	Intellectual disability
ORPHA:86309	DPAGT1	1798	HP:0000347	Micrognathia
ORPHA:2098	BMPR1B	658	HP:0001162	Postaxial hand polydactyly
ORPHA:2098	BMPR1B	658	HP:0001831	Short toe
ORPHA:2098	BMPR1B	658	HP:0001773	Short foot
ORPHA:2098	BMPR1B	658	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
ORPHA:2098	BMPR1B	658	HP:0001387	Joint stiffness
ORPHA:2098	BMPR1B	658	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:2098	BMPR1B	658	HP:0003038	Fibular hypoplasia
ORPHA:2098	BMPR1B	658	HP:0008368	Tarsal synostosis
ORPHA:2098	BMPR1B	658	HP:0100387	Aplasia of the middle phalanges of the toes
ORPHA:2098	BMPR1B	658	HP:0001156	Brachydactyly
ORPHA:2098	BMPR1B	658	HP:0002652	Skeletal dysplasia
ORPHA:2098	BMPR1B	658	HP:0006487	Bowing of the long bones
ORPHA:2098	BMPR1B	658	HP:0005736	Short tibia
ORPHA:2098	BMPR1B	658	HP:0100242	Sarcoma
ORPHA:2098	BMPR1B	658	HP:0005048	Synostosis of carpal bones
ORPHA:2098	BMPR1B	658	HP:0002983	Micromelia
ORPHA:2098	BMPR1B	658	HP:0008873	Disproportionate short-limb short stature
ORPHA:2098	GDF5	8200	HP:0001162	Postaxial hand polydactyly
ORPHA:2098	GDF5	8200	HP:0001831	Short toe
ORPHA:2098	GDF5	8200	HP:0001773	Short foot
ORPHA:2098	GDF5	8200	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
ORPHA:2098	GDF5	8200	HP:0001387	Joint stiffness
ORPHA:2098	GDF5	8200	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:2098	GDF5	8200	HP:0003038	Fibular hypoplasia
ORPHA:2098	GDF5	8200	HP:0008368	Tarsal synostosis
ORPHA:2098	GDF5	8200	HP:0100387	Aplasia of the middle phalanges of the toes
ORPHA:2098	GDF5	8200	HP:0001156	Brachydactyly
ORPHA:2098	GDF5	8200	HP:0002652	Skeletal dysplasia
ORPHA:2098	GDF5	8200	HP:0006487	Bowing of the long bones
ORPHA:2098	GDF5	8200	HP:0005736	Short tibia
ORPHA:2098	GDF5	8200	HP:0100242	Sarcoma
ORPHA:2098	GDF5	8200	HP:0005048	Synostosis of carpal bones
ORPHA:2098	GDF5	8200	HP:0002983	Micromelia
ORPHA:2098	GDF5	8200	HP:0008873	Disproportionate short-limb short stature
ORPHA:79433	TYRP1	7306	HP:0000486	Strabismus
ORPHA:79433	TYRP1	7306	HP:0000639	Nystagmus
ORPHA:79433	TYRP1	7306	HP:0001022	Albinism
ORPHA:79433	TYRP1	7306	HP:0002297	Red hair
ORPHA:79433	TYRP1	7306	HP:0007730	Iris hypopigmentation
ORPHA:79433	TYRP1	7306	HP:0001480	Freckling
ORPHA:368	PYGM	5837	HP:0003198	Myopathy
ORPHA:368	PYGM	5837	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613313	HAMP	57817	HP:0000007	Autosomal recessive inheritance
OMIM:613313	HAMP	57817	HP:0001638	Cardiomyopathy
OMIM:613313	HAMP	57817	HP:0001394	Cirrhosis
OMIM:613313	HAMP	57817	HP:0002910	Elevated hepatic transaminases
OMIM:613313	HAMP	57817	HP:0003281	Increased serum ferritin
OMIM:613313	HAMP	57817	HP:0000135	Hypogonadism
OMIM:613313	HAMP	57817	HP:0001635	Congestive heart failure
OMIM:613313	HAMP	57817	HP:0001744	Splenomegaly
OMIM:613313	HAMP	57817	HP:0003452	Increased serum iron
OMIM:613313	HAMP	57817	HP:0001903	Anemia
OMIM:613313	HAMP	57817	HP:0002240	Hepatomegaly
ORPHA:96	TTPA	7274	HP:0000639	Nystagmus
ORPHA:96	TTPA	7274	HP:0002650	Scoliosis
ORPHA:96	TTPA	7274	HP:0007256	Abnormal pyramidal signs
ORPHA:96	TTPA	7274	HP:0000662	Nyctalopia
ORPHA:96	TTPA	7274	HP:0001260	Dysarthria
ORPHA:96	TTPA	7274	HP:0001284	Areflexia
ORPHA:96	TTPA	7274	HP:0001761	Pes cavus
ORPHA:96	TTPA	7274	HP:0002075	Dysdiadochokinesis
ORPHA:96	TTPA	7274	HP:0001324	Muscle weakness
ORPHA:96	TTPA	7274	HP:0000763	Sensory neuropathy
ORPHA:96	TTPA	7274	HP:0001288	Gait disturbance
ORPHA:96	TTPA	7274	HP:0001310	Dysmetria
OMIM:300434	SHROOM4	57477	HP:0000486	Strabismus
OMIM:300434	SHROOM4	57477	HP:0000752	Hyperactivity
OMIM:300434	SHROOM4	57477	HP:0005280	Depressed nasal bridge
OMIM:300434	SHROOM4	57477	HP:0001263	Global developmental delay
OMIM:300434	SHROOM4	57477	HP:0004322	Short stature
OMIM:300434	SHROOM4	57477	HP:0200055	Small hand
OMIM:300434	SHROOM4	57477	HP:0000286	Epicanthus
OMIM:300434	SHROOM4	57477	HP:0000252	Microcephaly
OMIM:300434	SHROOM4	57477	HP:0001007	Hirsutism
OMIM:300434	SHROOM4	57477	HP:0002808	Kyphosis
OMIM:300434	SHROOM4	57477	HP:0002827	Hip dislocation
OMIM:300434	SHROOM4	57477	HP:0002187	Intellectual disability, profound
OMIM:300434	SHROOM4	57477	HP:0000316	Hypertelorism
OMIM:300434	SHROOM4	57477	HP:0002020	Gastroesophageal reflux
OMIM:300434	SHROOM4	57477	HP:0001773	Short foot
OMIM:300434	SHROOM4	57477	HP:0001417	X-linked inheritance
OMIM:300434	SHROOM4	57477	HP:0002650	Scoliosis
OMIM:300434	SHROOM4	57477	HP:0001762	Talipes equinovarus
OMIM:300434	SHROOM4	57477	HP:0003763	Bruxism
OMIM:274150	ADAMTS13	11093	HP:0001923	Reticulocytosis
OMIM:274150	ADAMTS13	11093	HP:0002907	Microscopic hematuria
OMIM:274150	ADAMTS13	11093	HP:0001981	Schistocytosis
OMIM:274150	ADAMTS13	11093	HP:0000093	Proteinuria
OMIM:274150	ADAMTS13	11093	HP:0001937	Microangiopathic hemolytic anemia
OMIM:274150	ADAMTS13	11093	HP:0002151	Increased serum lactate
OMIM:274150	ADAMTS13	11093	HP:0001425	Heterogeneous
OMIM:274150	ADAMTS13	11093	HP:0006579	Prolonged neonatal jaundice
OMIM:274150	ADAMTS13	11093	HP:0005575	Hemolytic-uremic syndrome
OMIM:274150	ADAMTS13	11093	HP:0001289	Confusion
OMIM:274150	ADAMTS13	11093	HP:0000007	Autosomal recessive inheritance
OMIM:274150	ADAMTS13	11093	HP:0003259	Elevated serum creatinine
OMIM:274150	ADAMTS13	11093	HP:0001873	Thrombocytopenia
OMIM:274150	ADAMTS13	11093	HP:0003138	Increased blood urea nitrogen
OMIM:274150	ADAMTS13	11093	HP:0001945	Fever
OMIM:274150	ADAMTS13	11093	HP:0001337	Tremor
OMIM:300209	OFD1	8481	HP:0000463	Anteverted nares
OMIM:300209	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:300209	OFD1	8481	HP:0006610	Wide intermamillary distance
OMIM:300209	OFD1	8481	HP:0009466	Radial deviation of finger
OMIM:300209	OFD1	8481	HP:0000175	Cleft palate
OMIM:300209	OFD1	8481	HP:0000316	Hypertelorism
OMIM:300209	OFD1	8481	HP:0000358	Posteriorly rotated ears
OMIM:300209	OFD1	8481	HP:0001290	Generalized hypotonia
OMIM:300209	OFD1	8481	HP:0000286	Epicanthus
OMIM:300209	OFD1	8481	HP:0002788	Recurrent upper respiratory tract infections
OMIM:300209	OFD1	8481	HP:0010864	Intellectual disability, severe
OMIM:300209	OFD1	8481	HP:0001374	Congenital hip dislocation
OMIM:300209	OFD1	8481	HP:0030799	Scaphocephaly
OMIM:300209	OFD1	8481	HP:0000219	Thin upper lip vermilion
OMIM:300209	OFD1	8481	HP:0000470	Short neck
OMIM:300209	OFD1	8481	HP:0003196	Short nose
OMIM:300209	OFD1	8481	HP:0001547	Abnormality of the rib cage
OMIM:300209	OFD1	8481	HP:0000445	Wide nose
OMIM:300209	OFD1	8481	HP:0030084	Clinodactyly
OMIM:300209	OFD1	8481	HP:0002090	Pneumonia
OMIM:300209	OFD1	8481	HP:0000474	Thickened nuchal skin fold
OMIM:300209	OFD1	8481	HP:0001792	Small nail
OMIM:300209	OFD1	8481	HP:0006887	Intellectual disability, progressive
OMIM:300209	OFD1	8481	HP:0000023	Inguinal hernia
OMIM:300209	OFD1	8481	HP:0001762	Talipes equinovarus
OMIM:300209	OFD1	8481	HP:0002002	Deep philtrum
OMIM:300209	OFD1	8481	HP:0009381	Short finger
OMIM:300209	OFD1	8481	HP:0000003	Multicystic kidney dysplasia
OMIM:300209	OFD1	8481	HP:0010806	U-Shaped upper lip vermilion
OMIM:300209	OFD1	8481	HP:0000154	Wide mouth
OMIM:300209	OFD1	8481	HP:0000256	Macrocephaly
OMIM:300209	OFD1	8481	HP:0000369	Low-set ears
OMIM:300209	OFD1	8481	HP:0000218	High palate
OMIM:300209	OFD1	8481	HP:0000954	Single transverse palmar crease
OMIM:300209	OFD1	8481	HP:0000280	Coarse facial features
OMIM:300209	OFD1	8481	HP:0001169	Broad palm
OMIM:300209	OFD1	8481	HP:0000996	Facial capillary hemangioma
OMIM:300209	OFD1	8481	HP:0000054	Micropenis
OMIM:300209	OFD1	8481	HP:0006801	Hyperactive deep tendon reflexes
OMIM:300209	OFD1	8481	HP:0001182	Tapered finger
OMIM:615048	CHCHD10	400916	HP:0001763	Pes planus
OMIM:615048	CHCHD10	400916	HP:0002355	Difficulty walking
OMIM:615048	CHCHD10	400916	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615048	CHCHD10	400916	HP:0003677	Slow progression
OMIM:615048	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:615048	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:615048	CHCHD10	400916	HP:0001765	Hammertoe
OMIM:615048	CHCHD10	400916	HP:0007269	Spinal muscular atrophy
OMIM:615048	CHCHD10	400916	HP:0001761	Pes cavus
OMIM:615048	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:615048	CHCHD10	400916	HP:0001284	Areflexia
ORPHA:93356	MMP13	4322	HP:0002812	Coxa vara
ORPHA:93356	MMP13	4322	HP:0006385	Short lower limbs
ORPHA:93356	MMP13	4322	HP:0002758	Osteoarthritis
ORPHA:93356	MMP13	4322	HP:0004566	Pear-shaped vertebrae
ORPHA:93356	MMP13	4322	HP:0002970	Genu varum
ORPHA:93356	MMP13	4322	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93356	MMP13	4322	HP:0002651	Spondyloepimetaphyseal dysplasia
ORPHA:93356	MMP13	4322	HP:0002982	Tibial bowing
ORPHA:93356	MMP13	4322	HP:0000944	Abnormality of the metaphysis
ORPHA:93356	MMP13	4322	HP:0002980	Femoral bowing
ORPHA:93356	MMP13	4322	HP:0004322	Short stature
OMIM:609311	FGD4	121512	HP:0003431	Decreased motor nerve conduction velocity
OMIM:609311	FGD4	121512	HP:0003383	Onion bulb formation
OMIM:609311	FGD4	121512	HP:0003484	Upper limb muscle weakness
OMIM:609311	FGD4	121512	HP:0009053	Distal lower limb muscle weakness
OMIM:609311	FGD4	121512	HP:0001762	Talipes equinovarus
OMIM:609311	FGD4	121512	HP:0002515	Waddling gait
OMIM:609311	FGD4	121512	HP:0011096	Peripheral demyelination
OMIM:609311	FGD4	121512	HP:0003593	Infantile onset
OMIM:609311	FGD4	121512	HP:0008944	Distal lower limb amyotrophy
OMIM:609311	FGD4	121512	HP:0001425	Heterogeneous
OMIM:609311	FGD4	121512	HP:0001284	Areflexia
OMIM:609311	FGD4	121512	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:609311	FGD4	121512	HP:0001761	Pes cavus
OMIM:609311	FGD4	121512	HP:0002936	Distal sensory impairment
OMIM:609311	FGD4	121512	HP:0001265	Hyporeflexia
OMIM:609311	FGD4	121512	HP:0001270	Motor delay
OMIM:609311	FGD4	121512	HP:0002650	Scoliosis
OMIM:609311	FGD4	121512	HP:0000007	Autosomal recessive inheritance
OMIM:101900	ATP2A2	488	HP:0200016	Acrokeratosis
OMIM:101900	ATP2A2	488	HP:0000962	Hyperkeratosis
OMIM:101900	ATP2A2	488	HP:0001807	Ridged nail
OMIM:101900	ATP2A2	488	HP:0025092	Epidermal acanthosis
OMIM:101900	ATP2A2	488	HP:0000006	Autosomal dominant inheritance
ORPHA:99886	ABCC8	6833	HP:0003074	Hyperglycemia
ORPHA:99886	ABCC8	6833	HP:0002714	Downturned corners of mouth
ORPHA:99886	ABCC8	6833	HP:0001249	Intellectual disability
ORPHA:99886	ABCC8	6833	HP:0005487	Prominent metopic ridge
ORPHA:99886	ABCC8	6833	HP:0001508	Failure to thrive
ORPHA:99886	ABCC8	6833	HP:0002919	Ketonuria
ORPHA:99886	ABCC8	6833	HP:0001824	Weight loss
ORPHA:99886	ABCC8	6833	HP:0011106	Hypovolemia
ORPHA:99886	ABCC8	6833	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:99886	ABCC8	6833	HP:0003076	Glycosuria
ORPHA:99886	ABCC8	6833	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99886	ABCC8	6833	HP:0001944	Dehydration
ORPHA:99886	ABCC8	6833	HP:0001488	Bilateral ptosis
ORPHA:99886	ABCC8	6833	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:99886	ABCC8	6833	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99886	ABCC8	6833	HP:0001270	Motor delay
ORPHA:99886	ABCC8	6833	HP:0001511	Intrauterine growth retardation
ORPHA:99886	ABCC8	6833	HP:0001263	Global developmental delay
ORPHA:99886	HYMAI	57061	HP:0003074	Hyperglycemia
ORPHA:99886	HYMAI	57061	HP:0002714	Downturned corners of mouth
ORPHA:99886	HYMAI	57061	HP:0001249	Intellectual disability
ORPHA:99886	HYMAI	57061	HP:0005487	Prominent metopic ridge
ORPHA:99886	HYMAI	57061	HP:0001508	Failure to thrive
ORPHA:99886	HYMAI	57061	HP:0002919	Ketonuria
ORPHA:99886	HYMAI	57061	HP:0001824	Weight loss
ORPHA:99886	HYMAI	57061	HP:0011106	Hypovolemia
ORPHA:99886	HYMAI	57061	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:99886	HYMAI	57061	HP:0003076	Glycosuria
ORPHA:99886	HYMAI	57061	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99886	HYMAI	57061	HP:0001944	Dehydration
ORPHA:99886	HYMAI	57061	HP:0001488	Bilateral ptosis
ORPHA:99886	HYMAI	57061	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:99886	HYMAI	57061	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99886	HYMAI	57061	HP:0001270	Motor delay
ORPHA:99886	HYMAI	57061	HP:0001511	Intrauterine growth retardation
ORPHA:99886	HYMAI	57061	HP:0001263	Global developmental delay
ORPHA:99886	KCNJ11	3767	HP:0003074	Hyperglycemia
ORPHA:99886	KCNJ11	3767	HP:0002714	Downturned corners of mouth
ORPHA:99886	KCNJ11	3767	HP:0001249	Intellectual disability
ORPHA:99886	KCNJ11	3767	HP:0005487	Prominent metopic ridge
ORPHA:99886	KCNJ11	3767	HP:0001508	Failure to thrive
ORPHA:99886	KCNJ11	3767	HP:0002919	Ketonuria
ORPHA:99886	KCNJ11	3767	HP:0001824	Weight loss
ORPHA:99886	KCNJ11	3767	HP:0011106	Hypovolemia
ORPHA:99886	KCNJ11	3767	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:99886	KCNJ11	3767	HP:0003076	Glycosuria
ORPHA:99886	KCNJ11	3767	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99886	KCNJ11	3767	HP:0001944	Dehydration
ORPHA:99886	KCNJ11	3767	HP:0001488	Bilateral ptosis
ORPHA:99886	KCNJ11	3767	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:99886	KCNJ11	3767	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99886	KCNJ11	3767	HP:0001270	Motor delay
ORPHA:99886	KCNJ11	3767	HP:0001511	Intrauterine growth retardation
ORPHA:99886	KCNJ11	3767	HP:0001263	Global developmental delay
ORPHA:99886	PLAGL1	5325	HP:0003074	Hyperglycemia
ORPHA:99886	PLAGL1	5325	HP:0002714	Downturned corners of mouth
ORPHA:99886	PLAGL1	5325	HP:0001249	Intellectual disability
ORPHA:99886	PLAGL1	5325	HP:0005487	Prominent metopic ridge
ORPHA:99886	PLAGL1	5325	HP:0001508	Failure to thrive
ORPHA:99886	PLAGL1	5325	HP:0002919	Ketonuria
ORPHA:99886	PLAGL1	5325	HP:0001824	Weight loss
ORPHA:99886	PLAGL1	5325	HP:0011106	Hypovolemia
ORPHA:99886	PLAGL1	5325	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:99886	PLAGL1	5325	HP:0003076	Glycosuria
ORPHA:99886	PLAGL1	5325	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99886	PLAGL1	5325	HP:0001944	Dehydration
ORPHA:99886	PLAGL1	5325	HP:0001488	Bilateral ptosis
ORPHA:99886	PLAGL1	5325	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:99886	PLAGL1	5325	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99886	PLAGL1	5325	HP:0001270	Motor delay
ORPHA:99886	PLAGL1	5325	HP:0001511	Intrauterine growth retardation
ORPHA:99886	PLAGL1	5325	HP:0001263	Global developmental delay
ORPHA:99886	ZFP57	346171	HP:0003074	Hyperglycemia
ORPHA:99886	ZFP57	346171	HP:0002714	Downturned corners of mouth
ORPHA:99886	ZFP57	346171	HP:0001249	Intellectual disability
ORPHA:99886	ZFP57	346171	HP:0005487	Prominent metopic ridge
ORPHA:99886	ZFP57	346171	HP:0001508	Failure to thrive
ORPHA:99886	ZFP57	346171	HP:0002919	Ketonuria
ORPHA:99886	ZFP57	346171	HP:0001824	Weight loss
ORPHA:99886	ZFP57	346171	HP:0011106	Hypovolemia
ORPHA:99886	ZFP57	346171	HP:0008255	Transient neonatal diabetes mellitus
ORPHA:99886	ZFP57	346171	HP:0003076	Glycosuria
ORPHA:99886	ZFP57	346171	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99886	ZFP57	346171	HP:0001944	Dehydration
ORPHA:99886	ZFP57	346171	HP:0001488	Bilateral ptosis
ORPHA:99886	ZFP57	346171	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:99886	ZFP57	346171	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99886	ZFP57	346171	HP:0001270	Motor delay
ORPHA:99886	ZFP57	346171	HP:0001511	Intrauterine growth retardation
ORPHA:99886	ZFP57	346171	HP:0001263	Global developmental delay
OMIM:616684	SURF1	6834	HP:0000407	Sensorineural hearing impairment
OMIM:616684	SURF1	6834	HP:0003447	Axonal loss
OMIM:616684	SURF1	6834	HP:0002751	Kyphoscoliosis
OMIM:616684	SURF1	6834	HP:0000666	Horizontal nystagmus
OMIM:616684	SURF1	6834	HP:0003677	Slow progression
OMIM:616684	SURF1	6834	HP:0001251	Ataxia
OMIM:616684	SURF1	6834	HP:0000007	Autosomal recessive inheritance
OMIM:616684	SURF1	6834	HP:0002355	Difficulty walking
OMIM:616684	SURF1	6834	HP:0011096	Peripheral demyelination
OMIM:616684	SURF1	6834	HP:0001332	Dystonia
OMIM:616684	SURF1	6834	HP:0003202	Skeletal muscle atrophy
OMIM:616684	SURF1	6834	HP:0003388	Easy fatigability
OMIM:616684	SURF1	6834	HP:0003828	Variable expressivity
OMIM:616684	SURF1	6834	HP:0002151	Increased serum lactate
OMIM:616684	SURF1	6834	HP:0009830	Peripheral neuropathy
OMIM:609283	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:609283	SLC25A4	291	HP:0000590	Progressive external ophthalmoplegia
OMIM:609283	SLC25A4	291	HP:0003676	Progressive
OMIM:609283	SLC25A4	291	HP:0003200	Ragged-red muscle fibers
OMIM:609283	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:609283	SLC25A4	291	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:609283	SLC25A4	291	HP:0003581	Adult onset
OMIM:609283	SLC25A4	291	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:609283	SLC25A4	291	HP:0000508	Ptosis
OMIM:609283	SLC25A4	291	HP:0001425	Heterogeneous
OMIM:609283	SLC25A4	291	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	SLC25A4	291	HP:0003324	Generalized muscle weakness
OMIM:609283	SLC25A4	291	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:609283	SLC25A4	291	HP:0010628	Facial palsy
OMIM:608930	CHRNA1	1134	HP:0000400	Macrotia
OMIM:608930	CHRNA1	1134	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	CHRNA1	1134	HP:0001270	Motor delay
OMIM:608930	CHRNA1	1134	HP:0000006	Autosomal dominant inheritance
OMIM:608930	CHRNA1	1134	HP:0001260	Dysarthria
OMIM:608930	CHRNA1	1134	HP:0003593	Infantile onset
OMIM:608930	CHRNA1	1134	HP:0000597	Ophthalmoparesis
OMIM:608930	CHRNA1	1134	HP:0000508	Ptosis
OMIM:608930	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:608930	CHRNA1	1134	HP:0001612	Weak cry
OMIM:608930	CHRNA1	1134	HP:0002650	Scoliosis
OMIM:608930	CHRNA1	1134	HP:0000467	Neck muscle weakness
OMIM:608930	CHRNA1	1134	HP:0000347	Micrognathia
OMIM:608930	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:608930	CHRNA1	1134	HP:0003402	Decreased miniature endplate potentials
OMIM:608930	CHRNA1	1134	HP:0000218	High palate
OMIM:608930	CHRNA1	1134	HP:0003828	Variable expressivity
OMIM:608930	CHRNA1	1134	HP:0003324	Generalized muscle weakness
OMIM:608930	CHRNA1	1134	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	CHRNA1	1134	HP:0001283	Bulbar palsy
OMIM:608930	CHRNA1	1134	HP:0003554	Type 2 muscle fiber atrophy
OMIM:608930	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:608930	CHRNA1	1134	HP:0002033	Poor suck
OMIM:608930	CHRNA1	1134	HP:0003388	Easy fatigability
OMIM:608930	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:608930	CHRNA1	1134	HP:0001319	Neonatal hypotonia
OMIM:617065	GUF1	60558	HP:0001250	Seizures
OMIM:617065	GUF1	60558	HP:0002521	Hypsarrhythmia
OMIM:617065	GUF1	60558	HP:0000007	Autosomal recessive inheritance
OMIM:617065	GUF1	60558	HP:0200134	Epileptic encephalopathy
OMIM:617065	GUF1	60558	HP:0002187	Intellectual disability, profound
OMIM:617065	GUF1	60558	HP:0001336	Myoclonus
OMIM:617065	GUF1	60558	HP:0001257	Spasticity
OMIM:617065	GUF1	60558	HP:0002120	Cerebral cortical atrophy
OMIM:617065	GUF1	60558	HP:0001266	Choreoathetosis
ORPHA:1429	NKX2-1	7080	HP:0001288	Gait disturbance
ORPHA:1429	ADCY5	111	HP:0001288	Gait disturbance
OMIM:122200	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
OMIM:122200	TGFBI	7045	HP:0000529	Progressive visual loss
OMIM:122200	TGFBI	7045	HP:0000495	Recurrent corneal erosions
OMIM:122200	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:617106	CACNA1A	773	HP:0200134	Epileptic encephalopathy
OMIM:617106	CACNA1A	773	HP:0000565	Esotropia
OMIM:617106	CACNA1A	773	HP:0001337	Tremor
OMIM:617106	CACNA1A	773	HP:0000639	Nystagmus
OMIM:617106	CACNA1A	773	HP:0001250	Seizures
OMIM:617106	CACNA1A	773	HP:0001276	Hypertonia
OMIM:617106	CACNA1A	773	HP:0001290	Generalized hypotonia
OMIM:617106	CACNA1A	773	HP:0001263	Global developmental delay
OMIM:617106	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:617106	CACNA1A	773	HP:0001251	Ataxia
OMIM:617106	CACNA1A	773	HP:0002305	Athetosis
OMIM:617106	CACNA1A	773	HP:0001371	Flexion contracture
OMIM:617106	CACNA1A	773	HP:0001347	Hyperreflexia
OMIM:617106	CACNA1A	773	HP:0002353	EEG abnormality
OMIM:608908	SCO2	9997	HP:0000006	Autosomal dominant inheritance
OMIM:608908	SCO2	9997	HP:0000545	Myopia
OMIM:616481	RSPH3	83861	HP:0003577	Congenital onset
OMIM:616481	RSPH3	83861	HP:0012265	Ciliary dyskinesia
OMIM:616481	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:616481	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:616481	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:616481	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:616481	RSPH3	83861	HP:0002643	Neonatal respiratory distress
OMIM:146110	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:146110	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:146110	IL17RD	54756	HP:0002225	Sparse pubic hair
OMIM:146110	IL17RD	54756	HP:0000771	Gynecomastia
OMIM:146110	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:146110	IL17RD	54756	HP:0002215	Sparse axillary hair
OMIM:146110	IL17RD	54756	HP:0000007	Autosomal recessive inheritance
OMIM:146110	IL17RD	54756	HP:0000054	Micropenis
OMIM:146110	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:146110	CCDC141	285025	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	CCDC141	285025	HP:0008734	Decreased testicular size
OMIM:146110	CCDC141	285025	HP:0000028	Cryptorchidism
OMIM:146110	CCDC141	285025	HP:0002225	Sparse pubic hair
OMIM:146110	CCDC141	285025	HP:0000771	Gynecomastia
OMIM:146110	CCDC141	285025	HP:0000006	Autosomal dominant inheritance
OMIM:146110	CCDC141	285025	HP:0002215	Sparse axillary hair
OMIM:146110	CCDC141	285025	HP:0000007	Autosomal recessive inheritance
OMIM:146110	CCDC141	285025	HP:0000054	Micropenis
OMIM:146110	CCDC141	285025	HP:0000786	Primary amenorrhea
OMIM:146110	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:146110	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:146110	WDR11	55717	HP:0002225	Sparse pubic hair
OMIM:146110	WDR11	55717	HP:0000771	Gynecomastia
OMIM:146110	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:146110	WDR11	55717	HP:0002215	Sparse axillary hair
OMIM:146110	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:146110	WDR11	55717	HP:0000054	Micropenis
OMIM:146110	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:146110	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:146110	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:146110	FEZF1	389549	HP:0002225	Sparse pubic hair
OMIM:146110	FEZF1	389549	HP:0000771	Gynecomastia
OMIM:146110	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FEZF1	389549	HP:0002215	Sparse axillary hair
OMIM:146110	FEZF1	389549	HP:0000007	Autosomal recessive inheritance
OMIM:146110	FEZF1	389549	HP:0000054	Micropenis
OMIM:146110	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:146110	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:146110	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:146110	GNRH1	2796	HP:0002225	Sparse pubic hair
OMIM:146110	GNRH1	2796	HP:0000771	Gynecomastia
OMIM:146110	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:146110	GNRH1	2796	HP:0002215	Sparse axillary hair
OMIM:146110	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:146110	GNRH1	2796	HP:0000054	Micropenis
OMIM:146110	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:146110	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:146110	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:146110	GNRHR	2798	HP:0002225	Sparse pubic hair
OMIM:146110	GNRHR	2798	HP:0000771	Gynecomastia
OMIM:146110	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:146110	GNRHR	2798	HP:0002215	Sparse axillary hair
OMIM:146110	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:146110	GNRHR	2798	HP:0000054	Micropenis
OMIM:146110	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:146110	AXL	558	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	AXL	558	HP:0008734	Decreased testicular size
OMIM:146110	AXL	558	HP:0000028	Cryptorchidism
OMIM:146110	AXL	558	HP:0002225	Sparse pubic hair
OMIM:146110	AXL	558	HP:0000771	Gynecomastia
OMIM:146110	AXL	558	HP:0000006	Autosomal dominant inheritance
OMIM:146110	AXL	558	HP:0002215	Sparse axillary hair
OMIM:146110	AXL	558	HP:0000007	Autosomal recessive inheritance
OMIM:146110	AXL	558	HP:0000054	Micropenis
OMIM:146110	AXL	558	HP:0000786	Primary amenorrhea
OMIM:146110	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:146110	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:146110	FGF17	8822	HP:0002225	Sparse pubic hair
OMIM:146110	FGF17	8822	HP:0000771	Gynecomastia
OMIM:146110	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FGF17	8822	HP:0002215	Sparse axillary hair
OMIM:146110	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:146110	FGF17	8822	HP:0000054	Micropenis
OMIM:146110	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:146110	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:146110	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:146110	FLRT3	23767	HP:0002225	Sparse pubic hair
OMIM:146110	FLRT3	23767	HP:0000771	Gynecomastia
OMIM:146110	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FLRT3	23767	HP:0002215	Sparse axillary hair
OMIM:146110	FLRT3	23767	HP:0000007	Autosomal recessive inheritance
OMIM:146110	FLRT3	23767	HP:0000054	Micropenis
OMIM:146110	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:146110	POLR3B	55703	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	POLR3B	55703	HP:0008734	Decreased testicular size
OMIM:146110	POLR3B	55703	HP:0000028	Cryptorchidism
OMIM:146110	POLR3B	55703	HP:0002225	Sparse pubic hair
OMIM:146110	POLR3B	55703	HP:0000771	Gynecomastia
OMIM:146110	POLR3B	55703	HP:0000006	Autosomal dominant inheritance
OMIM:146110	POLR3B	55703	HP:0002215	Sparse axillary hair
OMIM:146110	POLR3B	55703	HP:0000007	Autosomal recessive inheritance
OMIM:146110	POLR3B	55703	HP:0000054	Micropenis
OMIM:146110	POLR3B	55703	HP:0000786	Primary amenorrhea
OMIM:146110	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:146110	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:146110	DUSP6	1848	HP:0002225	Sparse pubic hair
OMIM:146110	DUSP6	1848	HP:0000771	Gynecomastia
OMIM:146110	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:146110	DUSP6	1848	HP:0002215	Sparse axillary hair
OMIM:146110	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:146110	DUSP6	1848	HP:0000054	Micropenis
OMIM:146110	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:146110	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:146110	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:146110	SPRY4	81848	HP:0002225	Sparse pubic hair
OMIM:146110	SPRY4	81848	HP:0000771	Gynecomastia
OMIM:146110	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:146110	SPRY4	81848	HP:0002215	Sparse axillary hair
OMIM:146110	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:146110	SPRY4	81848	HP:0000054	Micropenis
OMIM:146110	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:146110	SRA1	10011	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	SRA1	10011	HP:0008734	Decreased testicular size
OMIM:146110	SRA1	10011	HP:0000028	Cryptorchidism
OMIM:146110	SRA1	10011	HP:0002225	Sparse pubic hair
OMIM:146110	SRA1	10011	HP:0000771	Gynecomastia
OMIM:146110	SRA1	10011	HP:0000006	Autosomal dominant inheritance
OMIM:146110	SRA1	10011	HP:0002215	Sparse axillary hair
OMIM:146110	SRA1	10011	HP:0000007	Autosomal recessive inheritance
OMIM:146110	SRA1	10011	HP:0000054	Micropenis
OMIM:146110	SRA1	10011	HP:0000786	Primary amenorrhea
OMIM:146110	SEMA3E	9723	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	SEMA3E	9723	HP:0008734	Decreased testicular size
OMIM:146110	SEMA3E	9723	HP:0000028	Cryptorchidism
OMIM:146110	SEMA3E	9723	HP:0002225	Sparse pubic hair
OMIM:146110	SEMA3E	9723	HP:0000771	Gynecomastia
OMIM:146110	SEMA3E	9723	HP:0000006	Autosomal dominant inheritance
OMIM:146110	SEMA3E	9723	HP:0002215	Sparse axillary hair
OMIM:146110	SEMA3E	9723	HP:0000007	Autosomal recessive inheritance
OMIM:146110	SEMA3E	9723	HP:0000054	Micropenis
OMIM:146110	SEMA3E	9723	HP:0000786	Primary amenorrhea
OMIM:616201	SGO1	151648	HP:0011704	Sick sinus syndrome
OMIM:616201	SGO1	151648	HP:0001662	Bradycardia
OMIM:616201	SGO1	151648	HP:0000007	Autosomal recessive inheritance
OMIM:616201	SGO1	151648	HP:0001508	Failure to thrive
OMIM:614156	BLVRA	644	HP:0000006	Autosomal dominant inheritance
OMIM:614156	BLVRA	644	HP:0001410	Decreased liver function
OMIM:614156	BLVRA	644	HP:0001396	Cholestasis
OMIM:614156	BLVRA	644	HP:0000007	Autosomal recessive inheritance
OMIM:614156	BLVRA	644	HP:0001081	Cholelithiasis
ORPHA:16	OPN1LW	5956	HP:0007939	Blue cone monochromacy
ORPHA:16	OPN1MW	2652	HP:0007939	Blue cone monochromacy
OMIM:136760	ALX3	257	HP:0002000	Short columella
OMIM:136760	ALX3	257	HP:0000518	Cataract
OMIM:136760	ALX3	257	HP:0009099	Median cleft palate
OMIM:136760	ALX3	257	HP:0005258	Pectoral muscle hypoplasia/aplasia
OMIM:136760	ALX3	257	HP:0000007	Autosomal recessive inheritance
OMIM:136760	ALX3	257	HP:0000589	Coloboma
OMIM:136760	ALX3	257	HP:0009473	Joint contracture of the hand
OMIM:136760	ALX3	257	HP:0000431	Wide nasal bridge
OMIM:136760	ALX3	257	HP:0000456	Bifid nasal tip
OMIM:136760	ALX3	257	HP:0012385	Camptodactyly
OMIM:136760	ALX3	257	HP:0001636	Tetralogy of Fallot
OMIM:136760	ALX3	257	HP:0000316	Hypertelorism
OMIM:136760	ALX3	257	HP:0000349	Widow's peak
OMIM:136760	ALX3	257	HP:0006931	Lipoma of corpus callosum
OMIM:136760	ALX3	257	HP:0000384	Preauricular skin tag
OMIM:136760	ALX3	257	HP:0000405	Conductive hearing impairment
OMIM:136760	ALX3	257	HP:0003745	Sporadic
OMIM:136760	ALX3	257	HP:0007541	Frontal cutaneous lipoma
OMIM:136760	ALX3	257	HP:0000327	Hypoplasia of the maxilla
OMIM:136760	ALX3	257	HP:0001162	Postaxial hand polydactyly
OMIM:136760	ALX3	257	HP:0006992	Anterior basal encephalocele
OMIM:136760	ALX3	257	HP:0000286	Epicanthus
OMIM:136760	ALX3	257	HP:0000568	Microphthalmia
OMIM:136760	ALX3	257	HP:0009466	Radial deviation of finger
OMIM:136760	ALX3	257	HP:0001156	Brachydactyly
OMIM:136760	ALX3	257	HP:0002738	Hypoplastic frontal sinuses
OMIM:136760	ALX3	257	HP:0001274	Agenesis of corpus callosum
OMIM:136760	ALX3	257	HP:0000508	Ptosis
OMIM:136760	ALX3	257	HP:0004423	Cranium bifidum occultum
OMIM:136760	ALX3	257	HP:0000455	Broad nasal tip
OMIM:136760	ALX3	257	HP:0001566	Widely-spaced maxillary central incisors
OMIM:136760	ALX3	257	HP:0030084	Clinodactyly
OMIM:136760	ALX3	257	HP:0000161	Median cleft lip
OMIM:136760	ALX3	257	HP:0001249	Intellectual disability
OMIM:136760	ALX3	257	HP:0000369	Low-set ears
OMIM:261750	PHKB	5257	HP:0009051	Increased muscle glycogen content
OMIM:261750	PHKB	5257	HP:0004322	Short stature
OMIM:261750	PHKB	5257	HP:0006568	Increased hepatic glycogen content
OMIM:261750	PHKB	5257	HP:0001252	Muscular hypotonia
OMIM:261750	PHKB	5257	HP:0002014	Diarrhea
OMIM:261750	PHKB	5257	HP:0001290	Generalized hypotonia
OMIM:261750	PHKB	5257	HP:0002240	Hepatomegaly
OMIM:261750	PHKB	5257	HP:0000007	Autosomal recessive inheritance
OMIM:261750	PHKB	5257	HP:0001324	Muscle weakness
OMIM:116400	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:116400	WFS1	7466	HP:0000519	Congenital cataract
OMIM:116400	WFS1	7466	HP:0100018	Nuclear cataract
ORPHA:412066	PRKAR1B	5575	HP:0030216	Inertia
ORPHA:412066	PRKAR1B	5575	HP:0000719	Inappropriate behavior
ORPHA:412066	PRKAR1B	5575	HP:0002506	Diffuse cerebral atrophy
ORPHA:412066	PRKAR1B	5575	HP:0002145	Frontotemporal dementia
ORPHA:412066	PRKAR1B	5575	HP:0002354	Memory impairment
ORPHA:412066	PRKAR1B	5575	HP:0012757	Abnormal neuron morphology
ORPHA:412066	PRKAR1B	5575	HP:0002172	Postural instability
ORPHA:412066	PRKAR1B	5575	HP:0000736	Short attention span
ORPHA:412066	PRKAR1B	5575	HP:0001300	Parkinsonism
ORPHA:412066	PRKAR1B	5575	HP:0002527	Falls
ORPHA:412066	PRKAR1B	5575	HP:0000741	Apathy
ORPHA:412066	PRKAR1B	5575	HP:0002067	Bradykinesia
ORPHA:412066	PRKAR1B	5575	HP:0007311	Short stepped shuffling gait
ORPHA:412066	PRKAR1B	5575	HP:0010794	Impaired visuospatial constructive cognition
ORPHA:412066	PRKAR1B	5575	HP:0002333	Motor deterioration
ORPHA:412066	PRKAR1B	5575	HP:0002463	Language impairment
ORPHA:412066	PRKAR1B	5575	HP:0000739	Anxiety
ORPHA:412066	PRKAR1B	5575	HP:0003552	Muscle stiffness
ORPHA:289548	CYP11A1	1583	HP:0000028	Cryptorchidism
ORPHA:289548	CYP11A1	1583	HP:0003107	Abnormality of cholesterol metabolism
ORPHA:289548	CYP11A1	1583	HP:0100779	Urogenital sinus anomaly
ORPHA:289548	CYP11A1	1583	HP:0002902	Hyponatremia
ORPHA:289548	CYP11A1	1583	HP:0008163	Decreased circulating cortisol level
ORPHA:289548	CYP11A1	1583	HP:0030349	Decreased circulating androgen level
ORPHA:289548	CYP11A1	1583	HP:0000127	Renal salt wasting
ORPHA:289548	CYP11A1	1583	HP:0000823	Delayed puberty
ORPHA:289548	CYP11A1	1583	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:289548	CYP11A1	1583	HP:0000151	Aplasia of the uterus
ORPHA:289548	CYP11A1	1583	HP:0003154	Increased circulating ACTH level
ORPHA:289548	CYP11A1	1583	HP:0001508	Failure to thrive
ORPHA:289548	CYP11A1	1583	HP:0002615	Hypotension
ORPHA:289548	CYP11A1	1583	HP:0012605	Hypernatriuria
ORPHA:289548	CYP11A1	1583	HP:0011968	Feeding difficulties
ORPHA:289548	CYP11A1	1583	HP:0000835	Adrenal hypoplasia
ORPHA:289548	CYP11A1	1583	HP:0008734	Decreased testicular size
ORPHA:289548	CYP11A1	1583	HP:0001998	Neonatal hypoglycemia
ORPHA:289548	CYP11A1	1583	HP:0000037	Male pseudohermaphroditism
ORPHA:289548	CYP11A1	1583	HP:0000939	Osteoporosis
ORPHA:289548	CYP11A1	1583	HP:0001274	Agenesis of corpus callosum
ORPHA:289548	CYP11A1	1583	HP:0008073	Low maternal serum estriol
ORPHA:289548	CYP11A1	1583	HP:0002013	Vomiting
ORPHA:289548	CYP11A1	1583	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:289548	CYP11A1	1583	HP:0001944	Dehydration
ORPHA:289548	CYP11A1	1583	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:289548	CYP11A1	1583	HP:0004319	Decreased circulating aldosterone level
ORPHA:289548	CYP11A1	1583	HP:0000848	Increased circulating renin level
ORPHA:289548	CYP11A1	1583	HP:0030369	Induced vaginal delivery
ORPHA:289548	CYP11A1	1583	HP:0002750	Delayed skeletal maturation
ORPHA:289548	CYP11A1	1583	HP:0010789	Abnormality of the Leydig cells
ORPHA:289548	CYP11A1	1583	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:289548	CYP11A1	1583	HP:0011106	Hypovolemia
ORPHA:289548	CYP11A1	1583	HP:0000144	Decreased fertility
ORPHA:289548	CYP11A1	1583	HP:0001941	Acidosis
ORPHA:289548	CYP11A1	1583	HP:0000033	Ambiguous genitalia, male
ORPHA:289548	CYP11A1	1583	HP:0012245	Sex reversal
ORPHA:289548	CYP11A1	1583	HP:0012598	Abnormal urine potassium concentration
ORPHA:289548	CYP11A1	1583	HP:0000771	Gynecomastia
ORPHA:289548	CYP11A1	1583	HP:0007574	Generalized bronze hyperpigmentation
ORPHA:289548	CYP11A1	1583	HP:0001622	Premature birth
ORPHA:289548	CYP11A1	1583	HP:0002153	Hyperkalemia
ORPHA:289548	CYP11A1	1583	HP:0008187	Absence of secondary sex characteristics
OMIM:616944	TBL1XR1	79718	HP:0003812	Phenotypic variability
OMIM:616944	TBL1XR1	79718	HP:0001263	Global developmental delay
OMIM:616944	TBL1XR1	79718	HP:0001249	Intellectual disability
OMIM:616944	TBL1XR1	79718	HP:0000006	Autosomal dominant inheritance
ORPHA:1777	C12ORF57	113246	HP:0000316	Hypertelorism
ORPHA:1777	C12ORF57	113246	HP:0001724	Aortic dilatation
ORPHA:1777	C12ORF57	113246	HP:0000567	Chorioretinal coloboma
ORPHA:1777	C12ORF57	113246	HP:0001249	Intellectual disability
ORPHA:1777	C12ORF57	113246	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:1777	C12ORF57	113246	HP:0000276	Long face
ORPHA:1777	C12ORF57	113246	HP:0000444	Convex nasal ridge
ORPHA:1777	C12ORF57	113246	HP:0002970	Genu varum
ORPHA:1777	C12ORF57	113246	HP:0000280	Coarse facial features
ORPHA:1777	C12ORF57	113246	HP:0001831	Short toe
ORPHA:1777	C12ORF57	113246	HP:0000268	Dolichocephaly
ORPHA:1777	C12ORF57	113246	HP:0000369	Low-set ears
ORPHA:1777	C12ORF57	113246	HP:0000347	Micrognathia
ORPHA:1777	C12ORF57	113246	HP:0000612	Iris coloboma
ORPHA:1777	C12ORF57	113246	HP:0001156	Brachydactyly
ORPHA:1777	C12ORF57	113246	HP:0001263	Global developmental delay
ORPHA:1777	C12ORF57	113246	HP:0000256	Macrocephaly
ORPHA:1777	C12ORF57	113246	HP:0001763	Pes planus
OMIM:277380	LMBRD1	55788	HP:0001889	Megaloblastic anemia
OMIM:277380	LMBRD1	55788	HP:0008872	Feeding difficulties in infancy
OMIM:277380	LMBRD1	55788	HP:0003223	Decreased methylcobalamin
OMIM:277380	LMBRD1	55788	HP:0002912	Methylmalonic acidemia
OMIM:277380	LMBRD1	55788	HP:0000218	High palate
OMIM:277380	LMBRD1	55788	HP:0002311	Incoordination
OMIM:277380	LMBRD1	55788	HP:0000219	Thin upper lip vermilion
OMIM:277380	LMBRD1	55788	HP:0000369	Low-set ears
OMIM:277380	LMBRD1	55788	HP:0001263	Global developmental delay
OMIM:277380	LMBRD1	55788	HP:0002156	Homocystinuria
OMIM:277380	LMBRD1	55788	HP:0001508	Failure to thrive
OMIM:277380	LMBRD1	55788	HP:0001875	Neutropenia
OMIM:277380	LMBRD1	55788	HP:0001254	Lethargy
OMIM:277380	LMBRD1	55788	HP:0001873	Thrombocytopenia
OMIM:277380	LMBRD1	55788	HP:0003524	Decreased methionine synthase activity
OMIM:277380	LMBRD1	55788	HP:0003286	Cystathioninemia
OMIM:277380	LMBRD1	55788	HP:0000007	Autosomal recessive inheritance
OMIM:277380	LMBRD1	55788	HP:0000206	Glossitis
OMIM:277380	LMBRD1	55788	HP:0003145	Decreased adenosylcobalamin
OMIM:277380	LMBRD1	55788	HP:0000286	Epicanthus
OMIM:277380	LMBRD1	55788	HP:0008551	Microtia
OMIM:277380	LMBRD1	55788	HP:0003593	Infantile onset
OMIM:277380	LMBRD1	55788	HP:0003153	Cystathioninuria
OMIM:277380	LMBRD1	55788	HP:0000988	Skin rash
OMIM:277380	LMBRD1	55788	HP:0001290	Generalized hypotonia
OMIM:277380	LMBRD1	55788	HP:0012120	Methylmalonic aciduria
OMIM:277380	LMBRD1	55788	HP:0010280	Stomatitis
OMIM:277380	LMBRD1	55788	HP:0001876	Pancytopenia
OMIM:277380	LMBRD1	55788	HP:0002160	Hyperhomocystinemia
OMIM:302200	NHS	4810	HP:0001141	Severe visual impairment
OMIM:302200	NHS	4810	HP:0008024	Congenital nuclear cataract
OMIM:302200	NHS	4810	HP:0010695	Sutural cataract
OMIM:302200	NHS	4810	HP:0001417	X-linked inheritance
OMIM:617052	DNAJC21	134218	HP:0005528	Bone marrow hypocellularity
OMIM:617052	DNAJC21	134218	HP:0001511	Intrauterine growth retardation
OMIM:617052	DNAJC21	134218	HP:0004322	Short stature
OMIM:617052	DNAJC21	134218	HP:0001876	Pancytopenia
OMIM:617052	DNAJC21	134218	HP:0001000	Abnormality of skin pigmentation
OMIM:617052	DNAJC21	134218	HP:0000007	Autosomal recessive inheritance
OMIM:617052	DNAJC21	134218	HP:0000962	Hyperkeratosis
OMIM:614675	SRP72	6731	HP:0000365	Hearing impairment
OMIM:614675	SRP72	6731	HP:0005528	Bone marrow hypocellularity
OMIM:614675	SRP72	6731	HP:0001915	Aplastic anemia
OMIM:614675	SRP72	6731	HP:0000006	Autosomal dominant inheritance
OMIM:614675	SRP72	6731	HP:0002863	Myelodysplasia
OMIM:616459	DCPS	28960	HP:0001290	Generalized hypotonia
OMIM:616459	DCPS	28960	HP:0001388	Joint laxity
OMIM:616459	DCPS	28960	HP:0000490	Deeply set eye
OMIM:616459	DCPS	28960	HP:0000252	Microcephaly
OMIM:616459	DCPS	28960	HP:0003577	Congenital onset
OMIM:616459	DCPS	28960	HP:0012368	Flat face
OMIM:616459	DCPS	28960	HP:0003196	Short nose
OMIM:616459	DCPS	28960	HP:0000369	Low-set ears
OMIM:616459	DCPS	28960	HP:0000007	Autosomal recessive inheritance
OMIM:616459	DCPS	28960	HP:0001010	Hypopigmentation of the skin
OMIM:616459	DCPS	28960	HP:0001852	Sandal gap
OMIM:616459	DCPS	28960	HP:0001156	Brachydactyly
OMIM:616459	DCPS	28960	HP:0001263	Global developmental delay
OMIM:616459	DCPS	28960	HP:0002317	Unsteady gait
OMIM:616459	DCPS	28960	HP:0000160	Narrow mouth
OMIM:616459	DCPS	28960	HP:0000219	Thin upper lip vermilion
OMIM:300257	LAMP2	3920	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:300257	LAMP2	3920	HP:0003710	Exercise-induced muscle cramps
OMIM:300257	LAMP2	3920	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300257	LAMP2	3920	HP:0001640	Cardiomegaly
OMIM:300257	LAMP2	3920	HP:0100543	Cognitive impairment
OMIM:300257	LAMP2	3920	HP:0001263	Global developmental delay
OMIM:300257	LAMP2	3920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300257	LAMP2	3920	HP:0001423	X-linked dominant inheritance
OMIM:300257	LAMP2	3920	HP:0001644	Dilated cardiomyopathy
OMIM:300257	LAMP2	3920	HP:0000505	Visual impairment
OMIM:300257	LAMP2	3920	HP:0003458	EMG: myopathic abnormalities
OMIM:300257	LAMP2	3920	HP:0001761	Pes cavus
OMIM:300257	LAMP2	3920	HP:0003812	Phenotypic variability
OMIM:300257	LAMP2	3920	HP:0003546	Exercise intolerance
OMIM:300257	LAMP2	3920	HP:0003701	Proximal muscle weakness
OMIM:300257	LAMP2	3920	HP:0001685	Myocardial fibrosis
OMIM:300257	LAMP2	3920	HP:0001700	Myocardial necrosis
OMIM:300257	LAMP2	3920	HP:0002375	Hypokinesia
OMIM:300257	LAMP2	3920	HP:0003700	Generalized amyotrophy
OMIM:300257	LAMP2	3920	HP:0011675	Arrhythmia
ORPHA:243	NUP107	57122	HP:0002225	Sparse pubic hair
ORPHA:243	NUP107	57122	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	NUP107	57122	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	NUP107	57122	HP:0010464	Streak ovary
ORPHA:243	NUP107	57122	HP:0000938	Osteopenia
ORPHA:243	NUP107	57122	HP:0000133	Gonadal dysgenesis
ORPHA:243	NUP107	57122	HP:0000823	Delayed puberty
ORPHA:243	NUP107	57122	HP:0000786	Primary amenorrhea
ORPHA:243	NUP107	57122	HP:0000144	Decreased fertility
ORPHA:243	NUP107	57122	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	NUP107	57122	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	NUP107	57122	HP:0008209	Premature ovarian insufficiency
ORPHA:243	NUP107	57122	HP:0002750	Delayed skeletal maturation
ORPHA:243	NUP107	57122	HP:0008214	Decreased serum estradiol
ORPHA:243	NR5A1	2516	HP:0002225	Sparse pubic hair
ORPHA:243	NR5A1	2516	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	NR5A1	2516	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	NR5A1	2516	HP:0010464	Streak ovary
ORPHA:243	NR5A1	2516	HP:0000938	Osteopenia
ORPHA:243	NR5A1	2516	HP:0000133	Gonadal dysgenesis
ORPHA:243	NR5A1	2516	HP:0000823	Delayed puberty
ORPHA:243	NR5A1	2516	HP:0000786	Primary amenorrhea
ORPHA:243	NR5A1	2516	HP:0000144	Decreased fertility
ORPHA:243	NR5A1	2516	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	NR5A1	2516	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	NR5A1	2516	HP:0008209	Premature ovarian insufficiency
ORPHA:243	NR5A1	2516	HP:0002750	Delayed skeletal maturation
ORPHA:243	NR5A1	2516	HP:0008214	Decreased serum estradiol
ORPHA:243	PSMC3IP	29893	HP:0002225	Sparse pubic hair
ORPHA:243	PSMC3IP	29893	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	PSMC3IP	29893	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	PSMC3IP	29893	HP:0010464	Streak ovary
ORPHA:243	PSMC3IP	29893	HP:0000938	Osteopenia
ORPHA:243	PSMC3IP	29893	HP:0000133	Gonadal dysgenesis
ORPHA:243	PSMC3IP	29893	HP:0000823	Delayed puberty
ORPHA:243	PSMC3IP	29893	HP:0000786	Primary amenorrhea
ORPHA:243	PSMC3IP	29893	HP:0000144	Decreased fertility
ORPHA:243	PSMC3IP	29893	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	PSMC3IP	29893	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	PSMC3IP	29893	HP:0008209	Premature ovarian insufficiency
ORPHA:243	PSMC3IP	29893	HP:0002750	Delayed skeletal maturation
ORPHA:243	PSMC3IP	29893	HP:0008214	Decreased serum estradiol
ORPHA:243	BMP15	9210	HP:0002225	Sparse pubic hair
ORPHA:243	BMP15	9210	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	BMP15	9210	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	BMP15	9210	HP:0010464	Streak ovary
ORPHA:243	BMP15	9210	HP:0000938	Osteopenia
ORPHA:243	BMP15	9210	HP:0000133	Gonadal dysgenesis
ORPHA:243	BMP15	9210	HP:0000823	Delayed puberty
ORPHA:243	BMP15	9210	HP:0000786	Primary amenorrhea
ORPHA:243	BMP15	9210	HP:0000144	Decreased fertility
ORPHA:243	BMP15	9210	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	BMP15	9210	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	BMP15	9210	HP:0008209	Premature ovarian insufficiency
ORPHA:243	BMP15	9210	HP:0002750	Delayed skeletal maturation
ORPHA:243	BMP15	9210	HP:0008214	Decreased serum estradiol
ORPHA:243	SPIDR	23514	HP:0002225	Sparse pubic hair
ORPHA:243	SPIDR	23514	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	SPIDR	23514	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	SPIDR	23514	HP:0010464	Streak ovary
ORPHA:243	SPIDR	23514	HP:0000938	Osteopenia
ORPHA:243	SPIDR	23514	HP:0000133	Gonadal dysgenesis
ORPHA:243	SPIDR	23514	HP:0000823	Delayed puberty
ORPHA:243	SPIDR	23514	HP:0000786	Primary amenorrhea
ORPHA:243	SPIDR	23514	HP:0000144	Decreased fertility
ORPHA:243	SPIDR	23514	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	SPIDR	23514	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	SPIDR	23514	HP:0008209	Premature ovarian insufficiency
ORPHA:243	SPIDR	23514	HP:0002750	Delayed skeletal maturation
ORPHA:243	SPIDR	23514	HP:0008214	Decreased serum estradiol
ORPHA:243	FSHR	2492	HP:0002225	Sparse pubic hair
ORPHA:243	FSHR	2492	HP:0005625	Osteoporosis of vertebrae
ORPHA:243	FSHR	2492	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:243	FSHR	2492	HP:0010464	Streak ovary
ORPHA:243	FSHR	2492	HP:0000938	Osteopenia
ORPHA:243	FSHR	2492	HP:0000133	Gonadal dysgenesis
ORPHA:243	FSHR	2492	HP:0000823	Delayed puberty
ORPHA:243	FSHR	2492	HP:0000786	Primary amenorrhea
ORPHA:243	FSHR	2492	HP:0000144	Decreased fertility
ORPHA:243	FSHR	2492	HP:0000837	Increased circulating gonadotropin level
ORPHA:243	FSHR	2492	HP:0008684	Aplasia/hypoplasia of the uterus
ORPHA:243	FSHR	2492	HP:0008209	Premature ovarian insufficiency
ORPHA:243	FSHR	2492	HP:0002750	Delayed skeletal maturation
ORPHA:243	FSHR	2492	HP:0008214	Decreased serum estradiol
ORPHA:91132	ST14	6768	HP:0008064	Ichthyosis
ORPHA:91132	ST14	6768	HP:0001006	Hypotrichosis
OMIM:610090	PNPO	55163	HP:0001250	Seizures
OMIM:610090	PNPO	55163	HP:0001276	Hypertonia
OMIM:610090	PNPO	55163	HP:0000253	Progressive microcephaly
OMIM:610090	PNPO	55163	HP:0000007	Autosomal recessive inheritance
OMIM:610090	PNPO	55163	HP:0008872	Feeding difficulties in infancy
OMIM:610090	PNPO	55163	HP:0000496	Abnormality of eye movement
OMIM:610090	PNPO	55163	HP:0001336	Myoclonus
OMIM:610090	PNPO	55163	HP:0001903	Anemia
OMIM:610090	PNPO	55163	HP:0008936	Muscular hypotonia of the trunk
OMIM:610090	PNPO	55163	HP:0001943	Hypoglycemia
OMIM:610090	PNPO	55163	HP:0002317	Unsteady gait
OMIM:610090	PNPO	55163	HP:0001622	Premature birth
OMIM:610090	PNPO	55163	HP:0001942	Metabolic acidosis
OMIM:610090	PNPO	55163	HP:0001263	Global developmental delay
OMIM:610090	PNPO	55163	HP:0003785	Decreased CSF homovanillic acid
OMIM:610090	PNPO	55163	HP:0001298	Encephalopathy
OMIM:610090	PNPO	55163	HP:0001508	Failure to thrive
OMIM:610090	PNPO	55163	HP:0002151	Increased serum lactate
OMIM:610131	POLG2	11232	HP:0000833	Glucose intolerance
OMIM:610131	POLG2	11232	HP:0003323	Progressive muscle weakness
OMIM:610131	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:610131	POLG2	11232	HP:0003690	Limb muscle weakness
OMIM:610131	POLG2	11232	HP:0011675	Arrhythmia
OMIM:610131	POLG2	11232	HP:0000508	Ptosis
OMIM:610131	POLG2	11232	HP:0003676	Progressive
OMIM:610131	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:610131	POLG2	11232	HP:0003326	Myalgia
OMIM:610131	POLG2	11232	HP:0000590	Progressive external ophthalmoplegia
OMIM:610131	POLG2	11232	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:610131	POLG2	11232	HP:0002151	Increased serum lactate
OMIM:610131	POLG2	11232	HP:0010628	Facial palsy
OMIM:610131	POLG2	11232	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:610131	POLG2	11232	HP:0003828	Variable expressivity
OMIM:610131	POLG2	11232	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	POLG2	11232	HP:0003581	Adult onset
OMIM:612337	ZBTB18	10472	HP:0000006	Autosomal dominant inheritance
OMIM:612337	ZBTB18	10472	HP:0000219	Thin upper lip vermilion
OMIM:612337	ZBTB18	10472	HP:0000377	Abnormality of the pinna
OMIM:612337	ZBTB18	10472	HP:0001274	Agenesis of corpus callosum
OMIM:612337	ZBTB18	10472	HP:0000286	Epicanthus
OMIM:612337	ZBTB18	10472	HP:0000311	Round face
OMIM:612337	ZBTB18	10472	HP:0000347	Micrognathia
OMIM:612337	ZBTB18	10472	HP:0000252	Microcephaly
OMIM:612337	ZBTB18	10472	HP:0000369	Low-set ears
OMIM:612337	ZBTB18	10472	HP:0001250	Seizures
OMIM:612337	ZBTB18	10472	HP:0011220	Prominent forehead
OMIM:612337	ZBTB18	10472	HP:0001263	Global developmental delay
OMIM:612337	ZBTB18	10472	HP:0000316	Hypertelorism
OMIM:612337	ZBTB18	10472	HP:0001249	Intellectual disability
OMIM:612337	ZBTB18	10472	HP:0001290	Generalized hypotonia
OMIM:612337	ZBTB18	10472	HP:0005280	Depressed nasal bridge
OMIM:612337	ZBTB18	10472	HP:0003828	Variable expressivity
OMIM:612337	ZBTB18	10472	HP:0000319	Smooth philtrum
OMIM:612337	ZBTB18	10472	HP:0004322	Short stature
ORPHA:33402	MET	4233	HP:0006254	Elevated alpha-fetoprotein
ORPHA:33402	MET	4233	HP:0012378	Fatigue
ORPHA:33402	MET	4233	HP:0002027	Abdominal pain
ORPHA:33402	MET	4233	HP:0002605	Hepatic necrosis
ORPHA:33402	MET	4233	HP:0410019	Epigastric pain
ORPHA:33402	MET	4233	HP:0001395	Hepatic fibrosis
ORPHA:33402	MET	4233	HP:0002013	Vomiting
ORPHA:33402	MET	4233	HP:0002240	Hepatomegaly
ORPHA:33402	MET	4233	HP:0030242	Portal vein thrombosis
ORPHA:33402	CTNNB1	1499	HP:0006254	Elevated alpha-fetoprotein
ORPHA:33402	CTNNB1	1499	HP:0012378	Fatigue
ORPHA:33402	CTNNB1	1499	HP:0002027	Abdominal pain
ORPHA:33402	CTNNB1	1499	HP:0002605	Hepatic necrosis
ORPHA:33402	CTNNB1	1499	HP:0410019	Epigastric pain
ORPHA:33402	CTNNB1	1499	HP:0001395	Hepatic fibrosis
ORPHA:33402	CTNNB1	1499	HP:0002013	Vomiting
ORPHA:33402	CTNNB1	1499	HP:0002240	Hepatomegaly
ORPHA:33402	CTNNB1	1499	HP:0030242	Portal vein thrombosis
ORPHA:63440	ZIC1	7545	HP:0000263	Oxycephaly
ORPHA:63440	ZIC1	7545	HP:0002342	Intellectual disability, moderate
ORPHA:63440	ZIC1	7545	HP:0004442	Sagittal craniosynostosis
ORPHA:63440	ZIC1	7545	HP:0002308	Arnold-Chiari malformation
ORPHA:63440	ZIC1	7545	HP:0010864	Intellectual disability, severe
ORPHA:63440	ZIC1	7545	HP:0001085	Papilledema
ORPHA:63440	ZIC1	7545	HP:0004440	Coronal craniosynostosis
ORPHA:63440	ZIC1	7545	HP:0002516	Increased intracranial pressure
ORPHA:2387	PLCD1	5333	HP:0000613	Photophobia
ORPHA:2387	PLCD1	5333	HP:0000787	Nephrolithiasis
ORPHA:2387	PLCD1	5333	HP:0000499	Abnormality of the eyelashes
ORPHA:2387	PLCD1	5333	HP:0001231	Abnormality of the fingernails
ORPHA:2387	PLCD1	5333	HP:0009720	Adenoma sebaceum
ORPHA:2387	PLCD1	5333	HP:0000498	Blepharitis
ORPHA:2387	PLCD1	5333	HP:0008388	Abnormal toenail morphology
OMIM:600775	ERF	2077	HP:0000316	Hypertelorism
OMIM:600775	ERF	2077	HP:0000272	Malar flattening
OMIM:600775	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:600775	ERF	2077	HP:0004443	Lambdoidal craniosynostosis
OMIM:600775	ERF	2077	HP:0005469	Flat occiput
OMIM:600775	ERF	2077	HP:0011220	Prominent forehead
OMIM:600775	ERF	2077	HP:0011800	Midface retrusion
OMIM:600775	ERF	2077	HP:0002007	Frontal bossing
OMIM:600775	ERF	2077	HP:0011327	Posterior plagiocephaly
OMIM:600775	ERF	2077	HP:0000278	Retrognathia
OMIM:201300	KIF1A	547	HP:0000970	Anhidrosis
OMIM:201300	KIF1A	547	HP:0001842	Foot acroosteolysis
OMIM:201300	KIF1A	547	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	KIF1A	547	HP:0008872	Feeding difficulties in infancy
OMIM:201300	KIF1A	547	HP:0003677	Slow progression
OMIM:201300	KIF1A	547	HP:0001290	Generalized hypotonia
OMIM:201300	KIF1A	547	HP:0001069	Episodic hyperhidrosis
OMIM:201300	KIF1A	547	HP:0001818	Paronychia
OMIM:201300	KIF1A	547	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	KIF1A	547	HP:0000478	Abnormality of the eye
OMIM:201300	KIF1A	547	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:201300	KIF1A	547	HP:0009830	Peripheral neuropathy
OMIM:201300	KIF1A	547	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:201300	KIF1A	547	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	KIF1A	547	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	KIF1A	547	HP:0002661	Painless fractures due to injury
OMIM:201300	KIF1A	547	HP:0003593	Infantile onset
OMIM:201300	KIF1A	547	HP:0001284	Areflexia
OMIM:201300	KIF1A	547	HP:0000224	Decreased taste sensation
OMIM:201300	KIF1A	547	HP:0002020	Gastroesophageal reflux
OMIM:201300	WNK1	65125	HP:0000970	Anhidrosis
OMIM:201300	WNK1	65125	HP:0001842	Foot acroosteolysis
OMIM:201300	WNK1	65125	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	WNK1	65125	HP:0008872	Feeding difficulties in infancy
OMIM:201300	WNK1	65125	HP:0003677	Slow progression
OMIM:201300	WNK1	65125	HP:0001290	Generalized hypotonia
OMIM:201300	WNK1	65125	HP:0001069	Episodic hyperhidrosis
OMIM:201300	WNK1	65125	HP:0001818	Paronychia
OMIM:201300	WNK1	65125	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	WNK1	65125	HP:0000478	Abnormality of the eye
OMIM:201300	WNK1	65125	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	WNK1	65125	HP:0000007	Autosomal recessive inheritance
OMIM:201300	WNK1	65125	HP:0009830	Peripheral neuropathy
OMIM:201300	WNK1	65125	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	WNK1	65125	HP:0001265	Hyporeflexia
OMIM:201300	WNK1	65125	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	WNK1	65125	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	WNK1	65125	HP:0002661	Painless fractures due to injury
OMIM:201300	WNK1	65125	HP:0003593	Infantile onset
OMIM:201300	WNK1	65125	HP:0001284	Areflexia
OMIM:201300	WNK1	65125	HP:0000224	Decreased taste sensation
OMIM:201300	WNK1	65125	HP:0002020	Gastroesophageal reflux
OMIM:201300	RETREG1	54463	HP:0000970	Anhidrosis
OMIM:201300	RETREG1	54463	HP:0001842	Foot acroosteolysis
OMIM:201300	RETREG1	54463	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	RETREG1	54463	HP:0008872	Feeding difficulties in infancy
OMIM:201300	RETREG1	54463	HP:0003677	Slow progression
OMIM:201300	RETREG1	54463	HP:0001290	Generalized hypotonia
OMIM:201300	RETREG1	54463	HP:0001069	Episodic hyperhidrosis
OMIM:201300	RETREG1	54463	HP:0001818	Paronychia
OMIM:201300	RETREG1	54463	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	RETREG1	54463	HP:0000478	Abnormality of the eye
OMIM:201300	RETREG1	54463	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	RETREG1	54463	HP:0000007	Autosomal recessive inheritance
OMIM:201300	RETREG1	54463	HP:0009830	Peripheral neuropathy
OMIM:201300	RETREG1	54463	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	RETREG1	54463	HP:0001265	Hyporeflexia
OMIM:201300	RETREG1	54463	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	RETREG1	54463	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	RETREG1	54463	HP:0002661	Painless fractures due to injury
OMIM:201300	RETREG1	54463	HP:0003593	Infantile onset
OMIM:201300	RETREG1	54463	HP:0001284	Areflexia
OMIM:201300	RETREG1	54463	HP:0000224	Decreased taste sensation
OMIM:201300	RETREG1	54463	HP:0002020	Gastroesophageal reflux
OMIM:201300	SCN9A	6335	HP:0000970	Anhidrosis
OMIM:201300	SCN9A	6335	HP:0001842	Foot acroosteolysis
OMIM:201300	SCN9A	6335	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	SCN9A	6335	HP:0008872	Feeding difficulties in infancy
OMIM:201300	SCN9A	6335	HP:0003677	Slow progression
OMIM:201300	SCN9A	6335	HP:0001290	Generalized hypotonia
OMIM:201300	SCN9A	6335	HP:0001069	Episodic hyperhidrosis
OMIM:201300	SCN9A	6335	HP:0001818	Paronychia
OMIM:201300	SCN9A	6335	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	SCN9A	6335	HP:0000478	Abnormality of the eye
OMIM:201300	SCN9A	6335	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:201300	SCN9A	6335	HP:0009830	Peripheral neuropathy
OMIM:201300	SCN9A	6335	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:201300	SCN9A	6335	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	SCN9A	6335	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	SCN9A	6335	HP:0002661	Painless fractures due to injury
OMIM:201300	SCN9A	6335	HP:0003593	Infantile onset
OMIM:201300	SCN9A	6335	HP:0001284	Areflexia
OMIM:201300	SCN9A	6335	HP:0000224	Decreased taste sensation
OMIM:201300	SCN9A	6335	HP:0002020	Gastroesophageal reflux
ORPHA:1949	KCNQ2	3785	HP:0001276	Hypertonia
ORPHA:1949	KCNQ2	3785	HP:0001250	Seizures
ORPHA:1949	KCNQ3	3786	HP:0001276	Hypertonia
ORPHA:1949	KCNQ3	3786	HP:0001250	Seizures
ORPHA:2028	ANTXR2	118429	HP:0000940	Abnormal diaphysis morphology
ORPHA:2028	ANTXR2	118429	HP:0001482	Subcutaneous nodule
ORPHA:2028	ANTXR2	118429	HP:0200034	Papule
ORPHA:2028	ANTXR2	118429	HP:0001522	Death in infancy
ORPHA:2028	ANTXR2	118429	HP:0001595	Abnormality of the hair
ORPHA:2028	ANTXR2	118429	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:2028	ANTXR2	118429	HP:0000929	Abnormality of the skull
ORPHA:2028	ANTXR2	118429	HP:0200042	Skin ulcer
OMIM:226600	COL7A1	1294	HP:0001903	Anemia
OMIM:226600	COL7A1	1294	HP:0002019	Constipation
OMIM:226600	COL7A1	1294	HP:0004057	Mitten deformity
OMIM:226600	COL7A1	1294	HP:0000509	Conjunctivitis
OMIM:226600	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:226600	COL7A1	1294	HP:0000559	Corneal scarring
OMIM:226600	COL7A1	1294	HP:0002860	Squamous cell carcinoma
OMIM:226600	COL7A1	1294	HP:0001371	Flexion contracture
OMIM:226600	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:226600	COL7A1	1294	HP:0000160	Narrow mouth
OMIM:226600	COL7A1	1294	HP:0002043	Esophageal stricture
OMIM:226600	COL7A1	1294	HP:0008066	Abnormal blistering of the skin
OMIM:226600	COL7A1	1294	HP:0005203	Spontaneous esophageal perforation
OMIM:226600	COL7A1	1294	HP:0006297	Hypoplasia of dental enamel
OMIM:226600	COL7A1	1294	HP:0001056	Milia
OMIM:226600	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:226600	COL7A1	1294	HP:0000518	Cataract
OMIM:226600	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:226600	COL7A1	1294	HP:0003577	Congenital onset
OMIM:226600	COL7A1	1294	HP:0001510	Growth delay
OMIM:226600	COL7A1	1294	HP:0001596	Alopecia
OMIM:226600	COL7A1	1294	HP:0004395	Malnutrition
OMIM:226600	COL7A1	1294	HP:0002015	Dysphagia
OMIM:226600	COL7A1	1294	HP:0001030	Fragile skin
ORPHA:77259	GBA	2629	HP:0000225	Gingival bleeding
ORPHA:77259	GBA	2629	HP:0002797	Osteolysis
ORPHA:77259	GBA	2629	HP:0000823	Delayed puberty
ORPHA:77259	GBA	2629	HP:0011001	Increased bone mineral density
ORPHA:77259	GBA	2629	HP:0002027	Abdominal pain
ORPHA:77259	GBA	2629	HP:0002039	Anorexia
ORPHA:77259	GBA	2629	HP:0001971	Hypersplenism
ORPHA:77259	GBA	2629	HP:0002750	Delayed skeletal maturation
ORPHA:77259	GBA	2629	HP:0002653	Bone pain
ORPHA:77259	GBA	2629	HP:0010885	Aseptic necrosis
ORPHA:77259	GBA	2629	HP:0001903	Anemia
ORPHA:77259	GBA	2629	HP:0002808	Kyphosis
ORPHA:77259	GBA	2629	HP:0000978	Bruising susceptibility
ORPHA:77259	GBA	2629	HP:0001744	Splenomegaly
ORPHA:77259	GBA	2629	HP:0002240	Hepatomegaly
ORPHA:77259	GBA	2629	HP:0001873	Thrombocytopenia
ORPHA:77259	GBA	2629	HP:0001876	Pancytopenia
ORPHA:77259	GBA	2629	HP:0000938	Osteopenia
ORPHA:77259	SCARB2	950	HP:0000225	Gingival bleeding
ORPHA:77259	SCARB2	950	HP:0002797	Osteolysis
ORPHA:77259	SCARB2	950	HP:0000823	Delayed puberty
ORPHA:77259	SCARB2	950	HP:0011001	Increased bone mineral density
ORPHA:77259	SCARB2	950	HP:0002027	Abdominal pain
ORPHA:77259	SCARB2	950	HP:0002039	Anorexia
ORPHA:77259	SCARB2	950	HP:0001971	Hypersplenism
ORPHA:77259	SCARB2	950	HP:0002750	Delayed skeletal maturation
ORPHA:77259	SCARB2	950	HP:0002653	Bone pain
ORPHA:77259	SCARB2	950	HP:0010885	Aseptic necrosis
ORPHA:77259	SCARB2	950	HP:0001903	Anemia
ORPHA:77259	SCARB2	950	HP:0002808	Kyphosis
ORPHA:77259	SCARB2	950	HP:0000978	Bruising susceptibility
ORPHA:77259	SCARB2	950	HP:0001744	Splenomegaly
ORPHA:77259	SCARB2	950	HP:0002240	Hepatomegaly
ORPHA:77259	SCARB2	950	HP:0001873	Thrombocytopenia
ORPHA:77259	SCARB2	950	HP:0001876	Pancytopenia
ORPHA:77259	SCARB2	950	HP:0000938	Osteopenia
OMIM:144250	LPL	4023	HP:0003141	Increased circulating low-density lipoprotein levels
OMIM:144250	LPL	4023	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:144250	LPL	4023	HP:0001658	Myocardial infarction
OMIM:144250	LPL	4023	HP:0000006	Autosomal dominant inheritance
ORPHA:1830	SMARCAL1	50485	HP:0000995	Melanocytic nevus
ORPHA:1830	SMARCAL1	50485	HP:0000414	Bulbous nose
ORPHA:1830	SMARCAL1	50485	HP:0000470	Short neck
ORPHA:1830	SMARCAL1	50485	HP:0003300	Ovoid vertebral bodies
ORPHA:1830	SMARCAL1	50485	HP:0003307	Hyperlordosis
ORPHA:1830	SMARCAL1	50485	HP:0005374	Cellular immunodeficiency
ORPHA:1830	SMARCAL1	50485	HP:0002843	Abnormal T cell morphology
ORPHA:1830	SMARCAL1	50485	HP:0100820	Glomerulopathy
ORPHA:1830	SMARCAL1	50485	HP:0000100	Nephrotic syndrome
ORPHA:1830	SMARCAL1	50485	HP:0001511	Intrauterine growth retardation
ORPHA:1830	SMARCAL1	50485	HP:0003521	Disproportionate short-trunk short stature
ORPHA:1830	SMARCAL1	50485	HP:0001888	Lymphopenia
ORPHA:1830	SMARCAL1	50485	HP:0002827	Hip dislocation
ORPHA:1830	SMARCAL1	50485	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1830	SMARCAL1	50485	HP:0001873	Thrombocytopenia
ORPHA:1830	SMARCAL1	50485	HP:0001903	Anemia
ORPHA:1830	SMARCAL1	50485	HP:0000926	Platyspondyly
ORPHA:1830	SMARCAL1	50485	HP:0005280	Depressed nasal bridge
ORPHA:1830	SMARCAL1	50485	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1830	SMARCAL1	50485	HP:0000093	Proteinuria
ORPHA:1830	SMARCAL1	50485	HP:0000691	Microdontia
OMIM:204100	RPE65	6121	HP:0000618	Blindness
OMIM:204100	RPE65	6121	HP:0001483	Eye poking
OMIM:204100	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:204100	RPE65	6121	HP:0001249	Intellectual disability
OMIM:204100	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:204100	RPE65	6121	HP:0000563	Keratoconus
OMIM:204100	RPE65	6121	HP:0000613	Photophobia
OMIM:204100	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	RPE65	6121	HP:0001099	Fundus atrophy
OMIM:204100	RPE65	6121	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	RPE65	6121	HP:0000518	Cataract
OMIM:204100	RPE65	6121	HP:0007663	Reduced visual acuity
ORPHA:75233	LIPA	3988	HP:0001903	Anemia
ORPHA:75233	LIPA	3988	HP:0010512	Adrenal calcification
ORPHA:75233	LIPA	3988	HP:0002570	Steatorrhea
ORPHA:75233	LIPA	3988	HP:0003270	Abdominal distention
ORPHA:75233	LIPA	3988	HP:0001510	Growth delay
ORPHA:75233	LIPA	3988	HP:0001263	Global developmental delay
ORPHA:75233	LIPA	3988	HP:0001541	Ascites
ORPHA:75233	LIPA	3988	HP:0004395	Malnutrition
ORPHA:75233	LIPA	3988	HP:0004326	Cachexia
ORPHA:75233	LIPA	3988	HP:0002240	Hepatomegaly
ORPHA:75233	LIPA	3988	HP:0002017	Nausea and vomiting
ORPHA:75233	LIPA	3988	HP:0001744	Splenomegaly
ORPHA:75233	LIPA	3988	HP:0001399	Hepatic failure
OMIM:613960	NCF4	4689	HP:0011127	Perioral eczema
OMIM:613960	NCF4	4689	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	NCF4	4689	HP:0011108	Recurrent sinusitis
OMIM:613960	NCF4	4689	HP:0002014	Diarrhea
OMIM:613960	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:616138	TWNK	56652	HP:0003542	Increased serum pyruvate
OMIM:616138	TWNK	56652	HP:0002403	Positive Romberg sign
OMIM:616138	TWNK	56652	HP:0003390	Sensory axonal neuropathy
OMIM:616138	TWNK	56652	HP:0002151	Increased serum lactate
OMIM:616138	TWNK	56652	HP:0001265	Hyporeflexia
OMIM:616138	TWNK	56652	HP:0000007	Autosomal recessive inheritance
OMIM:616138	TWNK	56652	HP:0000133	Gonadal dysgenesis
OMIM:616138	TWNK	56652	HP:0000602	Ophthalmoplegia
OMIM:616138	TWNK	56652	HP:0000786	Primary amenorrhea
OMIM:616138	TWNK	56652	HP:0000639	Nystagmus
OMIM:616138	TWNK	56652	HP:0001251	Ataxia
OMIM:616138	TWNK	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:615233	RBP3	5949	HP:0000603	Central scotoma
OMIM:615233	RBP3	5949	HP:0000662	Nyctalopia
OMIM:615233	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:615233	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615233	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RBP3	5949	HP:0000505	Visual impairment
OMIM:615233	RBP3	5949	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:604563	SBF2	81846	HP:0000407	Sensorineural hearing impairment
OMIM:604563	SBF2	81846	HP:0002355	Difficulty walking
OMIM:604563	SBF2	81846	HP:0003621	Juvenile onset
OMIM:604563	SBF2	81846	HP:0001761	Pes cavus
OMIM:604563	SBF2	81846	HP:0001425	Heterogeneous
OMIM:604563	SBF2	81846	HP:0002460	Distal muscle weakness
OMIM:604563	SBF2	81846	HP:0000501	Glaucoma
OMIM:604563	SBF2	81846	HP:0003693	Distal amyotrophy
OMIM:604563	SBF2	81846	HP:0000007	Autosomal recessive inheritance
OMIM:604563	SBF2	81846	HP:0003383	Onion bulb formation
OMIM:604563	SBF2	81846	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604563	SBF2	81846	HP:0009027	Foot dorsiflexor weakness
OMIM:604563	SBF2	81846	HP:0002751	Kyphoscoliosis
OMIM:604563	SBF2	81846	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:604563	SBF2	81846	HP:0002936	Distal sensory impairment
OMIM:604563	SBF2	81846	HP:0001762	Talipes equinovarus
OMIM:604563	SBF2	81846	HP:0001765	Hammertoe
OMIM:604563	SBF2	81846	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604563	SBF2	81846	HP:0001171	Split hand
OMIM:604563	SBF2	81846	HP:0001265	Hyporeflexia
OMIM:604563	SBF2	81846	HP:0001284	Areflexia
OMIM:604563	SBF2	81846	HP:0003376	Steppage gait
OMIM:604563	SBF2	81846	HP:0001178	Ulnar claw
OMIM:615145	TENM3	55714	HP:0000505	Visual impairment
OMIM:615145	TENM3	55714	HP:0000541	Retinal detachment
OMIM:615145	TENM3	55714	HP:0000482	Microcornea
OMIM:615145	TENM3	55714	HP:0000007	Autosomal recessive inheritance
OMIM:615145	TENM3	55714	HP:0012043	Pendular nystagmus
OMIM:615145	TENM3	55714	HP:0000568	Microphthalmia
OMIM:615145	TENM3	55714	HP:0000565	Esotropia
OMIM:615145	TENM3	55714	HP:0000612	Iris coloboma
OMIM:615145	TENM3	55714	HP:0007663	Reduced visual acuity
ORPHA:99876	COL1A2	1278	HP:0001075	Atrophic scars
ORPHA:99876	COL1A2	1278	HP:0001324	Muscle weakness
ORPHA:99876	COL1A2	1278	HP:0000974	Hyperextensible skin
ORPHA:99876	COL1A2	1278	HP:0001933	Subcutaneous hemorrhage
ORPHA:99876	COL1A2	1278	HP:0100790	Hernia
ORPHA:99876	COL1A2	1278	HP:0004322	Short stature
ORPHA:99876	COL1A2	1278	HP:0005692	Joint hyperflexibility
ORPHA:99876	COL1A2	1278	HP:0007392	Excessive wrinkled skin
ORPHA:99876	COL1A2	1278	HP:0002020	Gastroesophageal reflux
OMIM:617017	DNAJB2	3300	HP:0002317	Unsteady gait
OMIM:617017	DNAJB2	3300	HP:0003581	Adult onset
OMIM:617017	DNAJB2	3300	HP:0001284	Areflexia
OMIM:617017	DNAJB2	3300	HP:0001265	Hyporeflexia
OMIM:617017	DNAJB2	3300	HP:0009027	Foot dorsiflexor weakness
OMIM:617017	DNAJB2	3300	HP:0000007	Autosomal recessive inheritance
OMIM:617017	DNAJB2	3300	HP:0002936	Distal sensory impairment
OMIM:617017	DNAJB2	3300	HP:0003677	Slow progression
OMIM:617017	DNAJB2	3300	HP:0000006	Autosomal dominant inheritance
OMIM:617017	MME	4311	HP:0002317	Unsteady gait
OMIM:617017	MME	4311	HP:0003581	Adult onset
OMIM:617017	MME	4311	HP:0001284	Areflexia
OMIM:617017	MME	4311	HP:0001265	Hyporeflexia
OMIM:617017	MME	4311	HP:0009027	Foot dorsiflexor weakness
OMIM:617017	MME	4311	HP:0000007	Autosomal recessive inheritance
OMIM:617017	MME	4311	HP:0002936	Distal sensory impairment
OMIM:617017	MME	4311	HP:0003677	Slow progression
OMIM:617017	MME	4311	HP:0000006	Autosomal dominant inheritance
OMIM:615630	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615630	IFT172	26160	HP:0001396	Cholestasis
OMIM:615630	IFT172	26160	HP:0001395	Hepatic fibrosis
OMIM:615630	IFT172	26160	HP:0004322	Short stature
OMIM:615630	IFT172	26160	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	IFT172	26160	HP:0001744	Splenomegaly
OMIM:615630	IFT172	26160	HP:0006644	Thoracic dysplasia
OMIM:615630	IFT172	26160	HP:0000090	Nephronophthisis
OMIM:615630	IFT172	26160	HP:0003026	Short long bone
OMIM:615630	IFT172	26160	HP:0012622	Chronic kidney disease
OMIM:615630	IFT172	26160	HP:0005257	Thoracic hypoplasia
OMIM:615630	IFT172	26160	HP:0002240	Hepatomegaly
OMIM:615630	IFT172	26160	HP:0000773	Short ribs
OMIM:615630	IFT172	26160	HP:0001591	Bell-shaped thorax
OMIM:615630	IFT172	26160	HP:0001156	Brachydactyly
OMIM:615630	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615630	IFT172	26160	HP:0001399	Hepatic failure
OMIM:615630	IFT172	26160	HP:0000546	Retinal degeneration
ORPHA:220493	CEP41	95681	HP:0002419	Molar tooth sign on MRI
ORPHA:220493	CEP41	95681	HP:0000276	Long face
ORPHA:220493	CEP41	95681	HP:0011968	Feeding difficulties
ORPHA:220493	CEP41	95681	HP:0001252	Muscular hypotonia
ORPHA:220493	CEP41	95681	HP:0004422	Biparietal narrowing
ORPHA:220493	CEP41	95681	HP:0001263	Global developmental delay
ORPHA:220493	CEP41	95681	HP:0001288	Gait disturbance
ORPHA:220493	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220493	CEP41	95681	HP:0000657	Oculomotor apraxia
ORPHA:220493	CEP41	95681	HP:0002104	Apnea
ORPHA:220493	CEP41	95681	HP:0000556	Retinal dystrophy
ORPHA:220493	CEP41	95681	HP:0001249	Intellectual disability
ORPHA:220493	CEP41	95681	HP:0000639	Nystagmus
ORPHA:220493	CEP41	95681	HP:0001251	Ataxia
ORPHA:220493	AHI1	54806	HP:0002419	Molar tooth sign on MRI
ORPHA:220493	AHI1	54806	HP:0000276	Long face
ORPHA:220493	AHI1	54806	HP:0011968	Feeding difficulties
ORPHA:220493	AHI1	54806	HP:0001252	Muscular hypotonia
ORPHA:220493	AHI1	54806	HP:0004422	Biparietal narrowing
ORPHA:220493	AHI1	54806	HP:0001263	Global developmental delay
ORPHA:220493	AHI1	54806	HP:0001288	Gait disturbance
ORPHA:220493	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220493	AHI1	54806	HP:0000657	Oculomotor apraxia
ORPHA:220493	AHI1	54806	HP:0002104	Apnea
ORPHA:220493	AHI1	54806	HP:0000556	Retinal dystrophy
ORPHA:220493	AHI1	54806	HP:0001249	Intellectual disability
ORPHA:220493	AHI1	54806	HP:0000639	Nystagmus
ORPHA:220493	AHI1	54806	HP:0001251	Ataxia
ORPHA:220493	MKS1	54903	HP:0002419	Molar tooth sign on MRI
ORPHA:220493	MKS1	54903	HP:0000276	Long face
ORPHA:220493	MKS1	54903	HP:0011968	Feeding difficulties
ORPHA:220493	MKS1	54903	HP:0001252	Muscular hypotonia
ORPHA:220493	MKS1	54903	HP:0004422	Biparietal narrowing
ORPHA:220493	MKS1	54903	HP:0001263	Global developmental delay
ORPHA:220493	MKS1	54903	HP:0001288	Gait disturbance
ORPHA:220493	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220493	MKS1	54903	HP:0000657	Oculomotor apraxia
ORPHA:220493	MKS1	54903	HP:0002104	Apnea
ORPHA:220493	MKS1	54903	HP:0000556	Retinal dystrophy
ORPHA:220493	MKS1	54903	HP:0001249	Intellectual disability
ORPHA:220493	MKS1	54903	HP:0000639	Nystagmus
ORPHA:220493	MKS1	54903	HP:0001251	Ataxia
ORPHA:220493	CEP120	153241	HP:0002419	Molar tooth sign on MRI
ORPHA:220493	CEP120	153241	HP:0000276	Long face
ORPHA:220493	CEP120	153241	HP:0011968	Feeding difficulties
ORPHA:220493	CEP120	153241	HP:0001252	Muscular hypotonia
ORPHA:220493	CEP120	153241	HP:0004422	Biparietal narrowing
ORPHA:220493	CEP120	153241	HP:0001263	Global developmental delay
ORPHA:220493	CEP120	153241	HP:0001288	Gait disturbance
ORPHA:220493	CEP120	153241	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220493	CEP120	153241	HP:0000657	Oculomotor apraxia
ORPHA:220493	CEP120	153241	HP:0002104	Apnea
ORPHA:220493	CEP120	153241	HP:0000556	Retinal dystrophy
ORPHA:220493	CEP120	153241	HP:0001249	Intellectual disability
ORPHA:220493	CEP120	153241	HP:0000639	Nystagmus
ORPHA:220493	CEP120	153241	HP:0001251	Ataxia
ORPHA:220493	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
ORPHA:220493	INPP5E	56623	HP:0000276	Long face
ORPHA:220493	INPP5E	56623	HP:0011968	Feeding difficulties
ORPHA:220493	INPP5E	56623	HP:0001252	Muscular hypotonia
ORPHA:220493	INPP5E	56623	HP:0004422	Biparietal narrowing
ORPHA:220493	INPP5E	56623	HP:0001263	Global developmental delay
ORPHA:220493	INPP5E	56623	HP:0001288	Gait disturbance
ORPHA:220493	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220493	INPP5E	56623	HP:0000657	Oculomotor apraxia
ORPHA:220493	INPP5E	56623	HP:0002104	Apnea
ORPHA:220493	INPP5E	56623	HP:0000556	Retinal dystrophy
ORPHA:220493	INPP5E	56623	HP:0001249	Intellectual disability
ORPHA:220493	INPP5E	56623	HP:0000639	Nystagmus
ORPHA:220493	INPP5E	56623	HP:0001251	Ataxia
ORPHA:93598	AGXT	189	HP:0000787	Nephrolithiasis
ORPHA:93598	AGXT	189	HP:0001903	Anemia
ORPHA:93598	AGXT	189	HP:0012213	Decreased glomerular filtration rate
ORPHA:93598	AGXT	189	HP:0100518	Dysuria
ORPHA:93598	AGXT	189	HP:0001942	Metabolic acidosis
ORPHA:93598	AGXT	189	HP:0003159	Hyperoxaluria
ORPHA:93598	AGXT	189	HP:0000121	Nephrocalcinosis
ORPHA:93598	AGXT	189	HP:0001508	Failure to thrive
ORPHA:93598	AGXT	189	HP:0003761	Calcinosis
ORPHA:93598	AGXT	189	HP:0000790	Hematuria
ORPHA:93598	AGXT	189	HP:0011021	Abnormality of circulating enzyme level
OMIM:302800	GJB1	2705	HP:0003431	Decreased motor nerve conduction velocity
OMIM:302800	GJB1	2705	HP:0000763	Sensory neuropathy
OMIM:302800	GJB1	2705	HP:0001270	Motor delay
OMIM:302800	GJB1	2705	HP:0001419	X-linked recessive inheritance
OMIM:302800	GJB1	2705	HP:0002500	Abnormality of the cerebral white matter
OMIM:302800	GJB1	2705	HP:0040078	Axonal degeneration
OMIM:302800	GJB1	2705	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:302800	GJB1	2705	HP:0003677	Slow progression
OMIM:302800	GJB1	2705	HP:0001260	Dysarthria
OMIM:302800	GJB1	2705	HP:0001771	Achilles tendon contracture
OMIM:302800	GJB1	2705	HP:0002355	Difficulty walking
OMIM:302800	GJB1	2705	HP:0003829	Incomplete penetrance
OMIM:302800	GJB1	2705	HP:0001265	Hyporeflexia
OMIM:302800	GJB1	2705	HP:0002460	Distal muscle weakness
OMIM:302800	GJB1	2705	HP:0002015	Dysphagia
OMIM:302800	GJB1	2705	HP:0002385	Paraparesis
OMIM:302800	GJB1	2705	HP:0002936	Distal sensory impairment
OMIM:302800	GJB1	2705	HP:0003383	Onion bulb formation
OMIM:302800	GJB1	2705	HP:0001337	Tremor
OMIM:302800	GJB1	2705	HP:0001761	Pes cavus
OMIM:302800	GJB1	2705	HP:0003693	Distal amyotrophy
OMIM:302800	GJB1	2705	HP:0002427	Motor aphasia
OMIM:302800	GJB1	2705	HP:0001423	X-linked dominant inheritance
OMIM:302800	GJB1	2705	HP:0040083	Toe walking
OMIM:613722	PLCB1	23236	HP:0001257	Spasticity
OMIM:613722	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:613722	PLCB1	23236	HP:0001347	Hyperreflexia
OMIM:613722	PLCB1	23236	HP:0007359	Focal seizures
OMIM:613722	PLCB1	23236	HP:0000007	Autosomal recessive inheritance
OMIM:613722	PLCB1	23236	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	PLCB1	23236	HP:0002197	Generalized seizures
OMIM:613722	PLCB1	23236	HP:0200134	Epileptic encephalopathy
ORPHA:485	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:485	COL2A1	1280	HP:0002808	Kyphosis
ORPHA:485	COL2A1	1280	HP:0000541	Retinal detachment
ORPHA:485	COL2A1	1280	HP:0002812	Coxa vara
ORPHA:485	COL2A1	1280	HP:0001387	Joint stiffness
ORPHA:485	COL2A1	1280	HP:0011800	Midface retrusion
ORPHA:485	COL2A1	1280	HP:0000545	Myopia
ORPHA:485	COL2A1	1280	HP:0000311	Round face
ORPHA:485	COL2A1	1280	HP:0000520	Proptosis
ORPHA:485	COL2A1	1280	HP:0006172	Flattened, squared-off epiphyses of tubular bones
ORPHA:485	COL2A1	1280	HP:0100625	Enlarged thorax
ORPHA:485	COL2A1	1280	HP:0003307	Hyperlordosis
ORPHA:485	COL2A1	1280	HP:0002827	Hip dislocation
ORPHA:485	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHA:485	COL2A1	1280	HP:0000175	Cleft palate
ORPHA:485	COL2A1	1280	HP:0002650	Scoliosis
ORPHA:485	COL2A1	1280	HP:0003521	Disproportionate short-trunk short stature
ORPHA:485	COL2A1	1280	HP:0008839	Hypoplastic pelvis
ORPHA:485	COL2A1	1280	HP:0005280	Depressed nasal bridge
ORPHA:485	COL2A1	1280	HP:0008905	Rhizomelia
ORPHA:485	COL2A1	1280	HP:0000947	Dumbbell-shaped long bone
ORPHA:485	COL2A1	1280	HP:0003015	Flared metaphysis
ORPHA:485	COL2A1	1280	HP:0000365	Hearing impairment
ORPHA:485	COL2A1	1280	HP:0000655	Vitreoretinal degeneration
ORPHA:485	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHA:485	COL2A1	1280	HP:0002983	Micromelia
ORPHA:485	COL2A1	1280	HP:0010306	Short thorax
ORPHA:485	COL2A1	1280	HP:0000488	Retinopathy
ORPHA:95713	FOXE1	2304	HP:0000821	Hypothyroidism
ORPHA:95713	FOXE1	2304	HP:0004322	Short stature
ORPHA:95713	FOXE1	2304	HP:0012378	Fatigue
ORPHA:95713	FOXE1	2304	HP:0000280	Coarse facial features
ORPHA:95713	FOXE1	2304	HP:0011968	Feeding difficulties
ORPHA:95713	FOXE1	2304	HP:0010864	Intellectual disability, severe
ORPHA:95713	FOXE1	2304	HP:0100786	Hypersomnia
ORPHA:95713	FOXE1	2304	HP:0000158	Macroglossia
ORPHA:95713	FOXE1	2304	HP:0000239	Large fontanelles
ORPHA:95713	FOXE1	2304	HP:0001252	Muscular hypotonia
ORPHA:95713	FOXE1	2304	HP:0001263	Global developmental delay
ORPHA:95713	FOXE1	2304	HP:0001324	Muscle weakness
ORPHA:95713	FOXE1	2304	HP:0008191	Thyroid agenesis
ORPHA:95713	FOXE1	2304	HP:0002019	Constipation
ORPHA:95713	FOXE1	2304	HP:0003270	Abdominal distention
ORPHA:95713	SLC26A4	5172	HP:0000821	Hypothyroidism
ORPHA:95713	SLC26A4	5172	HP:0004322	Short stature
ORPHA:95713	SLC26A4	5172	HP:0012378	Fatigue
ORPHA:95713	SLC26A4	5172	HP:0000280	Coarse facial features
ORPHA:95713	SLC26A4	5172	HP:0011968	Feeding difficulties
ORPHA:95713	SLC26A4	5172	HP:0010864	Intellectual disability, severe
ORPHA:95713	SLC26A4	5172	HP:0100786	Hypersomnia
ORPHA:95713	SLC26A4	5172	HP:0000158	Macroglossia
ORPHA:95713	SLC26A4	5172	HP:0000239	Large fontanelles
ORPHA:95713	SLC26A4	5172	HP:0001252	Muscular hypotonia
ORPHA:95713	SLC26A4	5172	HP:0001263	Global developmental delay
ORPHA:95713	SLC26A4	5172	HP:0001324	Muscle weakness
ORPHA:95713	SLC26A4	5172	HP:0008191	Thyroid agenesis
ORPHA:95713	SLC26A4	5172	HP:0002019	Constipation
ORPHA:95713	SLC26A4	5172	HP:0003270	Abdominal distention
ORPHA:95713	TSHR	7253	HP:0000821	Hypothyroidism
ORPHA:95713	TSHR	7253	HP:0004322	Short stature
ORPHA:95713	TSHR	7253	HP:0012378	Fatigue
ORPHA:95713	TSHR	7253	HP:0000280	Coarse facial features
ORPHA:95713	TSHR	7253	HP:0011968	Feeding difficulties
ORPHA:95713	TSHR	7253	HP:0010864	Intellectual disability, severe
ORPHA:95713	TSHR	7253	HP:0100786	Hypersomnia
ORPHA:95713	TSHR	7253	HP:0000158	Macroglossia
ORPHA:95713	TSHR	7253	HP:0000239	Large fontanelles
ORPHA:95713	TSHR	7253	HP:0001252	Muscular hypotonia
ORPHA:95713	TSHR	7253	HP:0001263	Global developmental delay
ORPHA:95713	TSHR	7253	HP:0001324	Muscle weakness
ORPHA:95713	TSHR	7253	HP:0008191	Thyroid agenesis
ORPHA:95713	TSHR	7253	HP:0002019	Constipation
ORPHA:95713	TSHR	7253	HP:0003270	Abdominal distention
ORPHA:95713	NKX2-1	7080	HP:0000821	Hypothyroidism
ORPHA:95713	NKX2-1	7080	HP:0004322	Short stature
ORPHA:95713	NKX2-1	7080	HP:0012378	Fatigue
ORPHA:95713	NKX2-1	7080	HP:0000280	Coarse facial features
ORPHA:95713	NKX2-1	7080	HP:0011968	Feeding difficulties
ORPHA:95713	NKX2-1	7080	HP:0010864	Intellectual disability, severe
ORPHA:95713	NKX2-1	7080	HP:0100786	Hypersomnia
ORPHA:95713	NKX2-1	7080	HP:0000158	Macroglossia
ORPHA:95713	NKX2-1	7080	HP:0000239	Large fontanelles
ORPHA:95713	NKX2-1	7080	HP:0001252	Muscular hypotonia
ORPHA:95713	NKX2-1	7080	HP:0001263	Global developmental delay
ORPHA:95713	NKX2-1	7080	HP:0001324	Muscle weakness
ORPHA:95713	NKX2-1	7080	HP:0008191	Thyroid agenesis
ORPHA:95713	NKX2-1	7080	HP:0002019	Constipation
ORPHA:95713	NKX2-1	7080	HP:0003270	Abdominal distention
ORPHA:95713	PAX8	7849	HP:0000821	Hypothyroidism
ORPHA:95713	PAX8	7849	HP:0004322	Short stature
ORPHA:95713	PAX8	7849	HP:0012378	Fatigue
ORPHA:95713	PAX8	7849	HP:0000280	Coarse facial features
ORPHA:95713	PAX8	7849	HP:0011968	Feeding difficulties
ORPHA:95713	PAX8	7849	HP:0010864	Intellectual disability, severe
ORPHA:95713	PAX8	7849	HP:0100786	Hypersomnia
ORPHA:95713	PAX8	7849	HP:0000158	Macroglossia
ORPHA:95713	PAX8	7849	HP:0000239	Large fontanelles
ORPHA:95713	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHA:95713	PAX8	7849	HP:0001263	Global developmental delay
ORPHA:95713	PAX8	7849	HP:0001324	Muscle weakness
ORPHA:95713	PAX8	7849	HP:0008191	Thyroid agenesis
ORPHA:95713	PAX8	7849	HP:0002019	Constipation
ORPHA:95713	PAX8	7849	HP:0003270	Abdominal distention
ORPHA:95713	NKX2-5	1482	HP:0000821	Hypothyroidism
ORPHA:95713	NKX2-5	1482	HP:0004322	Short stature
ORPHA:95713	NKX2-5	1482	HP:0012378	Fatigue
ORPHA:95713	NKX2-5	1482	HP:0000280	Coarse facial features
ORPHA:95713	NKX2-5	1482	HP:0011968	Feeding difficulties
ORPHA:95713	NKX2-5	1482	HP:0010864	Intellectual disability, severe
ORPHA:95713	NKX2-5	1482	HP:0100786	Hypersomnia
ORPHA:95713	NKX2-5	1482	HP:0000158	Macroglossia
ORPHA:95713	NKX2-5	1482	HP:0000239	Large fontanelles
ORPHA:95713	NKX2-5	1482	HP:0001252	Muscular hypotonia
ORPHA:95713	NKX2-5	1482	HP:0001263	Global developmental delay
ORPHA:95713	NKX2-5	1482	HP:0001324	Muscle weakness
ORPHA:95713	NKX2-5	1482	HP:0008191	Thyroid agenesis
ORPHA:95713	NKX2-5	1482	HP:0002019	Constipation
ORPHA:95713	NKX2-5	1482	HP:0003270	Abdominal distention
OMIM:614941	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:614941	EDARADD	128178	HP:0002557	Hypoplastic nipples
OMIM:614941	EDARADD	128178	HP:0000698	Conical tooth
OMIM:614941	EDARADD	128178	HP:0005280	Depressed nasal bridge
OMIM:614941	EDARADD	128178	HP:0000653	Sparse eyelashes
OMIM:614941	EDARADD	128178	HP:0002209	Sparse scalp hair
OMIM:614941	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:614941	EDARADD	128178	HP:0002205	Recurrent respiratory infections
OMIM:614941	EDARADD	128178	HP:0000007	Autosomal recessive inheritance
OMIM:614941	EDARADD	128178	HP:0000217	Xerostomia
OMIM:614941	EDARADD	128178	HP:0000290	Abnormality of the forehead
OMIM:614941	EDARADD	128178	HP:0000668	Hypodontia
OMIM:614941	EDARADD	128178	HP:0000958	Dry skin
OMIM:614941	EDARADD	128178	HP:0000968	Ectodermal dysplasia
OMIM:614941	EDARADD	128178	HP:0005338	Sparse lateral eyebrow
OMIM:614941	EDARADD	128178	HP:0000607	Periorbital wrinkles
ORPHA:34587	LAMP2	3920	HP:0010547	Muscle flaccidity
ORPHA:34587	LAMP2	3920	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:34587	LAMP2	3920	HP:0001644	Dilated cardiomyopathy
ORPHA:34587	LAMP2	3920	HP:0001249	Intellectual disability
ORPHA:34587	LAMP2	3920	HP:0001288	Gait disturbance
ORPHA:34587	LAMP2	3920	HP:0006543	Cardiorespiratory arrest
OMIM:615554	PRLR	5618	HP:0000006	Autosomal dominant inheritance
ORPHA:33574	GCLC	2729	HP:0001903	Anemia
OMIM:260660	TBX15	6913	HP:0000890	Long clavicles
OMIM:260660	TBX15	6913	HP:0001239	Wrist flexion contracture
OMIM:260660	TBX15	6913	HP:0001591	Bell-shaped thorax
OMIM:260660	TBX15	6913	HP:0009473	Joint contracture of the hand
OMIM:260660	TBX15	6913	HP:0011266	Microtia, first degree
OMIM:260660	TBX15	6913	HP:0000171	Microglossia
OMIM:260660	TBX15	6913	HP:0001762	Talipes equinovarus
OMIM:260660	TBX15	6913	HP:0003173	Hypoplastic pubic bone
OMIM:260660	TBX15	6913	HP:0012385	Camptodactyly
OMIM:260660	TBX15	6913	HP:0000882	Hypoplastic scapulae
OMIM:260660	TBX15	6913	HP:0002866	Hypoplastic iliac wing
OMIM:260660	TBX15	6913	HP:0001999	Abnormal facial shape
OMIM:260660	TBX15	6913	HP:0003083	Dislocated radial head
OMIM:260660	TBX15	6913	HP:0000482	Microcornea
OMIM:260660	TBX15	6913	HP:0006077	Absent proximal finger flexion creases
OMIM:260660	TBX15	6913	HP:0008472	Prominent protruding coccyx
OMIM:260660	TBX15	6913	HP:0000238	Hydrocephalus
OMIM:260660	TBX15	6913	HP:0000033	Ambiguous genitalia, male
OMIM:260660	TBX15	6913	HP:0004692	4-5 toe syndactyly
OMIM:260660	TBX15	6913	HP:0000581	Blepharophimosis
OMIM:260660	TBX15	6913	HP:0000568	Microphthalmia
OMIM:260660	TBX15	6913	HP:0003027	Mesomelia
OMIM:260660	TBX15	6913	HP:0000007	Autosomal recessive inheritance
OMIM:260660	TBX15	6913	HP:0002990	Fibular aplasia
OMIM:260660	TBX15	6913	HP:0000126	Hydronephrosis
OMIM:260660	TBX15	6913	HP:0008488	Anterior rounding of vertebral bodies
OMIM:260660	TBX15	6913	HP:0000061	Ambiguous genitalia, female
OMIM:260660	TBX15	6913	HP:0008905	Rhizomelia
OMIM:260660	TBX15	6913	HP:0000347	Micrognathia
OMIM:260660	TBX15	6913	HP:0003175	Hypoplastic ischia
OMIM:260660	TBX15	6913	HP:0001770	Toe syndactyly
OMIM:260660	TBX15	6913	HP:0004209	Clinodactyly of the 5th finger
OMIM:260660	TBX15	6913	HP:0009937	Facial hirsutism
OMIM:260660	TBX15	6913	HP:0009085	Alveolar ridge overgrowth
OMIM:260660	TBX15	6913	HP:0000175	Cleft palate
OMIM:260660	TBX15	6913	HP:0002324	Hydranencephaly
OMIM:260660	TBX15	6913	HP:0004691	2-3 toe syndactyly
OMIM:260660	TBX15	6913	HP:0012745	Short palpebral fissure
OMIM:614306	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:614306	SCN8A	6334	HP:0007018	Attention deficit hyperactivity disorder
OMIM:614306	SCN8A	6334	HP:0100543	Cognitive impairment
OMIM:607785	MLLT11	10962	HP:0001428	Somatic mutation
OMIM:607785	MLLT11	10962	HP:0000006	Autosomal dominant inheritance
OMIM:607785	MLLT11	10962	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	CBL	867	HP:0001428	Somatic mutation
OMIM:607785	CBL	867	HP:0000006	Autosomal dominant inheritance
OMIM:607785	CBL	867	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	ARHGAP26	23092	HP:0001428	Somatic mutation
OMIM:607785	ARHGAP26	23092	HP:0000006	Autosomal dominant inheritance
OMIM:607785	ARHGAP26	23092	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	PTPN11	5781	HP:0001428	Somatic mutation
OMIM:607785	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:607785	PTPN11	5781	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	NF1	4763	HP:0001428	Somatic mutation
OMIM:607785	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:607785	NF1	4763	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:230650	GLB1	2720	HP:0002869	Flared iliac wings
OMIM:230650	GLB1	2720	HP:0003274	Hypoplastic acetabulae
OMIM:230650	GLB1	2720	HP:0001256	Intellectual disability, mild
OMIM:230650	GLB1	2720	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:230650	GLB1	2720	HP:0003651	Foam cells
OMIM:230650	GLB1	2720	HP:0001332	Dystonia
OMIM:230650	GLB1	2720	HP:0002650	Scoliosis
OMIM:230650	GLB1	2720	HP:0000271	Abnormality of the face
OMIM:230650	GLB1	2720	HP:0003202	Skeletal muscle atrophy
OMIM:230650	GLB1	2720	HP:0008166	Decreased beta-galactosidase activity
OMIM:230650	GLB1	2720	HP:0002506	Diffuse cerebral atrophy
OMIM:230650	GLB1	2720	HP:0004322	Short stature
OMIM:230650	GLB1	2720	HP:0000926	Platyspondyly
OMIM:230650	GLB1	2720	HP:0001350	Slurred speech
OMIM:230650	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230650	GLB1	2720	HP:0002808	Kyphosis
OMIM:230650	GLB1	2720	HP:0008430	Anterior beaking of lumbar vertebrae
OMIM:230650	GLB1	2720	HP:0007759	Opacification of the corneal stroma
OMIM:612284	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:612284	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:612284	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:612284	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:612284	CC2D2A	57545	HP:0001762	Talipes equinovarus
OMIM:612284	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:612284	CC2D2A	57545	HP:0002089	Pulmonary hypoplasia
OMIM:612284	CC2D2A	57545	HP:0006706	Cystic liver disease
OMIM:612284	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:102200	AIP	9049	HP:0000845	Growth hormone excess
OMIM:102200	AIP	9049	HP:0040278	Prolactinoma
OMIM:102200	AIP	9049	HP:0001712	Left ventricular hypertrophy
OMIM:102200	AIP	9049	HP:0100829	Galactorrhea
OMIM:102200	AIP	9049	HP:0001428	Somatic mutation
OMIM:102200	AIP	9049	HP:0000858	Menstrual irregularities
OMIM:102200	AIP	9049	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	AIP	9049	HP:0001638	Cardiomyopathy
OMIM:102200	AIP	9049	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	AIP	9049	HP:0000280	Coarse facial features
OMIM:102200	AIP	9049	HP:0000822	Hypertension
OMIM:102200	AIP	9049	HP:0000870	Prolactin excess
OMIM:102200	AIP	9049	HP:0000006	Autosomal dominant inheritance
OMIM:102200	AIP	9049	HP:0006767	Pituitary prolactin cell adenoma
OMIM:102200	AIP	9049	HP:0002893	Pituitary adenoma
OMIM:102200	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:102200	GNAS	2778	HP:0040278	Prolactinoma
OMIM:102200	GNAS	2778	HP:0001712	Left ventricular hypertrophy
OMIM:102200	GNAS	2778	HP:0100829	Galactorrhea
OMIM:102200	GNAS	2778	HP:0001428	Somatic mutation
OMIM:102200	GNAS	2778	HP:0000858	Menstrual irregularities
OMIM:102200	GNAS	2778	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	GNAS	2778	HP:0001638	Cardiomyopathy
OMIM:102200	GNAS	2778	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	GNAS	2778	HP:0000280	Coarse facial features
OMIM:102200	GNAS	2778	HP:0000822	Hypertension
OMIM:102200	GNAS	2778	HP:0000870	Prolactin excess
OMIM:102200	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:102200	GNAS	2778	HP:0006767	Pituitary prolactin cell adenoma
OMIM:102200	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:602014	TRPM6	140803	HP:0000007	Autosomal recessive inheritance
OMIM:602014	TRPM6	140803	HP:0003593	Infantile onset
OMIM:602014	TRPM6	140803	HP:0002917	Hypomagnesemia
OMIM:602014	TRPM6	140803	HP:0001250	Seizures
OMIM:602014	TRPM6	140803	HP:0002901	Hypocalcemia
OMIM:602014	TRPM6	140803	HP:0001281	Tetany
OMIM:218000	SLC12A6	9990	HP:0001263	Global developmental delay
OMIM:218000	SLC12A6	9990	HP:0000276	Long face
OMIM:218000	SLC12A6	9990	HP:0000248	Brachycephaly
OMIM:218000	SLC12A6	9990	HP:0000341	Narrow forehead
OMIM:218000	SLC12A6	9990	HP:0003444	EMG: chronic denervation signs
OMIM:218000	SLC12A6	9990	HP:0007178	Motor polyneuropathy
OMIM:218000	SLC12A6	9990	HP:0001371	Flexion contracture
OMIM:218000	SLC12A6	9990	HP:0000508	Ptosis
OMIM:218000	SLC12A6	9990	HP:0000763	Sensory neuropathy
OMIM:218000	SLC12A6	9990	HP:0001250	Seizures
OMIM:218000	SLC12A6	9990	HP:0001274	Agenesis of corpus callosum
OMIM:218000	SLC12A6	9990	HP:0003690	Limb muscle weakness
OMIM:218000	SLC12A6	9990	HP:0003202	Skeletal muscle atrophy
OMIM:218000	SLC12A6	9990	HP:0200085	Limb tremor
OMIM:218000	SLC12A6	9990	HP:0011947	Respiratory tract infection
OMIM:218000	SLC12A6	9990	HP:0000007	Autosomal recessive inheritance
OMIM:218000	SLC12A6	9990	HP:0001284	Areflexia
OMIM:218000	SLC12A6	9990	HP:0003431	Decreased motor nerve conduction velocity
OMIM:218000	SLC12A6	9990	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:218000	SLC12A6	9990	HP:0004691	2-3 toe syndactyly
OMIM:218000	SLC12A6	9990	HP:0000400	Macrotia
OMIM:218000	SLC12A6	9990	HP:0000431	Wide nasal bridge
OMIM:218000	SLC12A6	9990	HP:0003676	Progressive
OMIM:218000	SLC12A6	9990	HP:0000294	Low anterior hairline
OMIM:218000	SLC12A6	9990	HP:0001270	Motor delay
OMIM:218000	SLC12A6	9990	HP:0003378	Axonal degeneration/regeneration
OMIM:218000	SLC12A6	9990	HP:0001249	Intellectual disability
OMIM:218000	SLC12A6	9990	HP:0001349	Facial diplegia
OMIM:218000	SLC12A6	9990	HP:0003477	Peripheral axonal neuropathy
OMIM:218000	SLC12A6	9990	HP:0000324	Facial asymmetry
OMIM:218000	SLC12A6	9990	HP:0003196	Short nose
OMIM:218000	SLC12A6	9990	HP:0000218	High palate
OMIM:218000	SLC12A6	9990	HP:0002650	Scoliosis
OMIM:218000	SLC12A6	9990	HP:0003383	Onion bulb formation
OMIM:218000	SLC12A6	9990	HP:0001271	Polyneuropathy
OMIM:218000	SLC12A6	9990	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:218000	SLC12A6	9990	HP:0001182	Tapered finger
OMIM:218000	SLC12A6	9990	HP:0001290	Generalized hypotonia
OMIM:218000	SLC12A6	9990	HP:0002922	Increased CSF protein
OMIM:218000	SLC12A6	9990	HP:0000327	Hypoplasia of the maxilla
OMIM:218000	SLC12A6	9990	HP:0001319	Neonatal hypotonia
OMIM:218000	SLC12A6	9990	HP:0002119	Ventriculomegaly
OMIM:218000	SLC12A6	9990	HP:0000709	Psychosis
OMIM:218000	SLC12A6	9990	HP:0000316	Hypertelorism
OMIM:300523	SLC16A2	6567	HP:0001319	Neonatal hypotonia
OMIM:300523	SLC16A2	6567	HP:0008583	Underfolded superior helices
OMIM:300523	SLC16A2	6567	HP:0000737	Irritability
OMIM:300523	SLC16A2	6567	HP:0000341	Narrow forehead
OMIM:300523	SLC16A2	6567	HP:0001763	Pes planus
OMIM:300523	SLC16A2	6567	HP:0003487	Babinski sign
OMIM:300523	SLC16A2	6567	HP:0011344	Severe global developmental delay
OMIM:300523	SLC16A2	6567	HP:0000400	Macrotia
OMIM:300523	SLC16A2	6567	HP:0001258	Spastic paraplegia
OMIM:300523	SLC16A2	6567	HP:0001260	Dysarthria
OMIM:300523	SLC16A2	6567	HP:0000821	Hypothyroidism
OMIM:300523	SLC16A2	6567	HP:0002169	Clonus
OMIM:300523	SLC16A2	6567	HP:0001822	Hallux valgus
OMIM:300523	SLC16A2	6567	HP:0002510	Spastic tetraplegia
OMIM:300523	SLC16A2	6567	HP:0008872	Feeding difficulties in infancy
OMIM:300523	SLC16A2	6567	HP:0002650	Scoliosis
OMIM:300523	SLC16A2	6567	HP:0002415	Leukodystrophy
OMIM:300523	SLC16A2	6567	HP:0000395	Prominent antihelix
OMIM:300523	SLC16A2	6567	HP:0000549	Abnormal conjugate eye movement
OMIM:300523	SLC16A2	6567	HP:0003577	Congenital onset
OMIM:300523	SLC16A2	6567	HP:0100015	Stahl ear
OMIM:300523	SLC16A2	6567	HP:0000252	Microcephaly
OMIM:300523	SLC16A2	6567	HP:0002188	Delayed CNS myelination
OMIM:300523	SLC16A2	6567	HP:0006887	Intellectual disability, progressive
OMIM:300523	SLC16A2	6567	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:300523	SLC16A2	6567	HP:0003700	Generalized amyotrophy
OMIM:300523	SLC16A2	6567	HP:0001423	X-linked dominant inheritance
OMIM:300523	SLC16A2	6567	HP:0001347	Hyperreflexia
OMIM:300523	SLC16A2	6567	HP:0010864	Intellectual disability, severe
OMIM:300523	SLC16A2	6567	HP:0002307	Drooling
OMIM:300523	SLC16A2	6567	HP:0002540	Inability to walk
OMIM:300523	SLC16A2	6567	HP:0001371	Flexion contracture
OMIM:300523	SLC16A2	6567	HP:0000767	Pectus excavatum
OMIM:300523	SLC16A2	6567	HP:0002305	Athetosis
OMIM:300523	SLC16A2	6567	HP:0001251	Ataxia
ORPHA:166002	COL9A1	1297	HP:0002758	Osteoarthritis
ORPHA:166002	COL9A1	1297	HP:0002983	Micromelia
ORPHA:166002	COL9A1	1297	HP:0004322	Short stature
ORPHA:166002	COL9A1	1297	HP:0001376	Limitation of joint mobility
ORPHA:166002	COL9A1	1297	HP:0001385	Hip dysplasia
ORPHA:166002	COL9A1	1297	HP:0005930	Abnormality of epiphysis morphology
ORPHA:166002	COL9A1	1297	HP:0001288	Gait disturbance
ORPHA:166002	COL9A1	1297	HP:0002829	Arthralgia
ORPHA:166002	COL9A2	1298	HP:0002758	Osteoarthritis
ORPHA:166002	COL9A2	1298	HP:0002983	Micromelia
ORPHA:166002	COL9A2	1298	HP:0004322	Short stature
ORPHA:166002	COL9A2	1298	HP:0001376	Limitation of joint mobility
ORPHA:166002	COL9A2	1298	HP:0001385	Hip dysplasia
ORPHA:166002	COL9A2	1298	HP:0005930	Abnormality of epiphysis morphology
ORPHA:166002	COL9A2	1298	HP:0001288	Gait disturbance
ORPHA:166002	COL9A2	1298	HP:0002829	Arthralgia
ORPHA:166002	COL9A3	1299	HP:0002758	Osteoarthritis
ORPHA:166002	COL9A3	1299	HP:0002983	Micromelia
ORPHA:166002	COL9A3	1299	HP:0004322	Short stature
ORPHA:166002	COL9A3	1299	HP:0001376	Limitation of joint mobility
ORPHA:166002	COL9A3	1299	HP:0001385	Hip dysplasia
ORPHA:166002	COL9A3	1299	HP:0005930	Abnormality of epiphysis morphology
ORPHA:166002	COL9A3	1299	HP:0001288	Gait disturbance
ORPHA:166002	COL9A3	1299	HP:0002829	Arthralgia
OMIM:613829	CRX	1406	HP:0000505	Visual impairment
OMIM:613829	CRX	1406	HP:0000563	Keratoconus
OMIM:613829	CRX	1406	HP:0012043	Pendular nystagmus
OMIM:613829	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613829	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613829	CRX	1406	HP:0000518	Cataract
OMIM:613829	CRX	1406	HP:0000613	Photophobia
ORPHA:140908	NOG	9241	HP:0001857	Short distal phalanx of toe
ORPHA:140908	NOG	9241	HP:0006101	Finger syndactyly
ORPHA:140908	NOG	9241	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:140908	NOG	9241	HP:0009882	Short distal phalanx of finger
ORPHA:140908	NOG	9241	HP:0001773	Short foot
ORPHA:140908	NOG	9241	HP:0005831	Type B brachydactyly
ORPHA:140908	NOG	9241	HP:0001817	Absent fingernail
ORPHA:140908	NOG	9241	HP:0005048	Synostosis of carpal bones
OMIM:309400	ATP7A	538	HP:0000939	Osteoporosis
OMIM:309400	ATP7A	538	HP:0001276	Hypertonia
OMIM:309400	ATP7A	538	HP:0002045	Hypothermia
OMIM:309400	ATP7A	538	HP:0002170	Intracranial hemorrhage
OMIM:309400	ATP7A	538	HP:0004322	Short stature
OMIM:309400	ATP7A	538	HP:0001250	Seizures
OMIM:309400	ATP7A	538	HP:0001249	Intellectual disability
OMIM:309400	ATP7A	538	HP:0000252	Microcephaly
OMIM:309400	ATP7A	538	HP:0003819	Death in childhood
OMIM:309400	ATP7A	538	HP:0001388	Joint laxity
OMIM:309400	ATP7A	538	HP:0005054	Metaphyseal spurs
OMIM:309400	ATP7A	538	HP:0000248	Brachycephaly
OMIM:309400	ATP7A	538	HP:0000973	Cutis laxa
OMIM:309400	ATP7A	538	HP:0001010	Hypopigmentation of the skin
OMIM:309400	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:309400	ATP7A	538	HP:0003016	Metaphyseal widening
OMIM:309400	ATP7A	538	HP:0000271	Abnormality of the face
OMIM:309400	ATP7A	538	HP:0002645	Wormian bones
OMIM:309400	ATP7A	538	HP:0001511	Intrauterine growth retardation
OMIM:309400	ATP7A	538	HP:0008070	Sparse hair
OMIM:613285	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613285	GRXCR1	389207	HP:0000408	Progressive sensorineural hearing impairment
OMIM:613285	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
ORPHA:53	CLCN7	1186	HP:0010885	Aseptic necrosis
ORPHA:53	CLCN7	1186	HP:0002007	Frontal bossing
ORPHA:53	CLCN7	1186	HP:0005789	Generalized osteosclerosis
ORPHA:53	CLCN7	1186	HP:0004322	Short stature
ORPHA:53	CLCN7	1186	HP:0001163	Abnormality of the metacarpal bones
ORPHA:53	CLCN7	1186	HP:0001373	Joint dislocation
ORPHA:53	CLCN7	1186	HP:0005930	Abnormality of epiphysis morphology
ORPHA:53	CLCN7	1186	HP:0010628	Facial palsy
ORPHA:53	CLCN7	1186	HP:0000256	Macrocephaly
ORPHA:53	CLCN7	1186	HP:0001369	Arthritis
ORPHA:53	CLCN7	1186	HP:0007626	Mandibular osteomyelitis
ORPHA:53	CLCN7	1186	HP:0002757	Recurrent fractures
ORPHA:53	CLCN7	1186	HP:0001903	Anemia
ORPHA:53	CLCN7	1186	HP:0000648	Optic atrophy
ORPHA:53	CLCN7	1186	HP:0000944	Abnormality of the metaphysis
ORPHA:53	CLCN7	1186	HP:0002758	Osteoarthritis
ORPHA:53	CLCN7	1186	HP:0002857	Genu valgum
ORPHA:53	CLCN7	1186	HP:0009882	Short distal phalanx of finger
ORPHA:53	CLCN7	1186	HP:0002653	Bone pain
OMIM:269700	BSCL2	26580	HP:0000868	Decreased fertility in females
OMIM:269700	BSCL2	26580	HP:0001537	Umbilical hernia
OMIM:269700	BSCL2	26580	HP:0001394	Cirrhosis
OMIM:269700	BSCL2	26580	HP:0002591	Polyphagia
OMIM:269700	BSCL2	26580	HP:0000147	Polycystic ovaries
OMIM:269700	BSCL2	26580	HP:0003716	Generalized muscular appearance from birth
OMIM:269700	BSCL2	26580	HP:0001735	Acute pancreatitis
OMIM:269700	BSCL2	26580	HP:0001744	Splenomegaly
OMIM:269700	BSCL2	26580	HP:0000144	Decreased fertility
OMIM:269700	BSCL2	26580	HP:0003577	Congenital onset
OMIM:269700	BSCL2	26580	HP:0000065	Labial hypertrophy
OMIM:269700	BSCL2	26580	HP:0001007	Hirsutism
OMIM:269700	BSCL2	26580	HP:0001176	Large hands
OMIM:269700	BSCL2	26580	HP:0000303	Mandibular prognathia
OMIM:269700	BSCL2	26580	HP:0001397	Hepatic steatosis
OMIM:269700	BSCL2	26580	HP:0000956	Acanthosis nigricans
OMIM:269700	BSCL2	26580	HP:0003292	Decreased serum leptin
OMIM:269700	BSCL2	26580	HP:0001544	Prominent umbilicus
OMIM:269700	BSCL2	26580	HP:0003809	Reduced intrathoracic adipose tissue
OMIM:269700	BSCL2	26580	HP:0000007	Autosomal recessive inheritance
OMIM:269700	BSCL2	26580	HP:0001833	Long foot
OMIM:269700	BSCL2	26580	HP:0000098	Tall stature
OMIM:269700	BSCL2	26580	HP:0000877	Insulin-resistant diabetes mellitus at puberty
OMIM:269700	BSCL2	26580	HP:0002240	Hepatomegaly
OMIM:269700	BSCL2	26580	HP:0005616	Accelerated skeletal maturation
OMIM:269700	BSCL2	26580	HP:0000842	Hyperinsulinemia
OMIM:269700	BSCL2	26580	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	BSCL2	26580	HP:0002155	Hypertriglyceridemia
OMIM:269700	BSCL2	26580	HP:0008665	Clitoral hypertrophy
OMIM:269700	BSCL2	26580	HP:0000325	Triangular face
OMIM:269700	BSCL2	26580	HP:0001256	Intellectual disability, mild
OMIM:269700	BSCL2	26580	HP:0009125	Lipodystrophy
OMIM:269700	BSCL2	26580	HP:0002910	Elevated hepatic transaminases
OMIM:269700	BSCL2	26580	HP:0000400	Macrotia
OMIM:269700	BSCL2	26580	HP:0001620	High pitched voice
OMIM:269700	BSCL2	26580	HP:0001425	Heterogeneous
OMIM:269700	BSCL2	26580	HP:0000787	Nephrolithiasis
OMIM:269700	BSCL2	26580	HP:0002833	Cystic angiomatosis of bone
OMIM:312870	GPC4	2239	HP:0000175	Cleft palate
OMIM:312870	GPC4	2239	HP:0002245	Meckel diverticulum
OMIM:312870	GPC4	2239	HP:0003422	Vertebral segmentation defect
OMIM:312870	GPC4	2239	HP:0004279	Short palm
OMIM:312870	GPC4	2239	HP:0000776	Congenital diaphragmatic hernia
OMIM:312870	GPC4	2239	HP:0000154	Wide mouth
OMIM:312870	GPC4	2239	HP:0001642	Pulmonic stenosis
OMIM:312870	GPC4	2239	HP:0000107	Renal cyst
OMIM:312870	GPC4	2239	HP:0000384	Preauricular skin tag
OMIM:312870	GPC4	2239	HP:0000047	Hypospadias
OMIM:312870	GPC4	2239	HP:0000256	Macrocephaly
OMIM:312870	GPC4	2239	HP:0009882	Short distal phalanx of finger
OMIM:312870	GPC4	2239	HP:0008416	Six lumbar vertebrae
OMIM:312870	GPC4	2239	HP:0000105	Enlarged kidney
OMIM:312870	GPC4	2239	HP:0000365	Hearing impairment
OMIM:312870	GPC4	2239	HP:0002650	Scoliosis
OMIM:312870	GPC4	2239	HP:0004467	Preauricular pit
OMIM:312870	GPC4	2239	HP:0008803	Narrow sacroiliac notch
OMIM:312870	GPC4	2239	HP:0001233	2-3 finger syndactyly
OMIM:312870	GPC4	2239	HP:0000891	Cervical ribs
OMIM:312870	GPC4	2239	HP:0000158	Macroglossia
OMIM:312870	GPC4	2239	HP:0011304	Broad thumb
OMIM:312870	GPC4	2239	HP:0001290	Generalized hypotonia
OMIM:312870	GPC4	2239	HP:0001837	Broad toe
OMIM:312870	GPC4	2239	HP:0005280	Depressed nasal bridge
OMIM:312870	GPC4	2239	HP:0000280	Coarse facial features
OMIM:312870	GPC4	2239	HP:0002667	Nephroblastoma
OMIM:312870	GPC4	2239	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:312870	GPC4	2239	HP:0003196	Short nose
OMIM:312870	GPC4	2239	HP:0011675	Arrhythmia
OMIM:312870	GPC4	2239	HP:0000028	Cryptorchidism
OMIM:312870	GPC4	2239	HP:0002566	Intestinal malrotation
OMIM:312870	GPC4	2239	HP:0001419	X-linked recessive inheritance
OMIM:312870	GPC4	2239	HP:0005616	Accelerated skeletal maturation
OMIM:312870	GPC4	2239	HP:0002869	Flared iliac wings
OMIM:312870	GPC4	2239	HP:0000431	Wide nasal bridge
OMIM:312870	GPC4	2239	HP:0000767	Pectus excavatum
OMIM:312870	GPC4	2239	HP:0006176	Two carpal ossification centers present at birth
OMIM:312870	GPC4	2239	HP:0001540	Diastasis recti
OMIM:312870	GPC4	2239	HP:0001274	Agenesis of corpus callosum
OMIM:312870	GPC4	2239	HP:0001643	Patent ductus arteriosus
OMIM:312870	GPC4	2239	HP:0002240	Hepatomegaly
OMIM:312870	GPC4	2239	HP:0000023	Inguinal hernia
OMIM:312870	GPC4	2239	HP:0001638	Cardiomyopathy
OMIM:312870	GPC4	2239	HP:0000216	Broad secondary alveolar ridge
OMIM:312870	GPC4	2239	HP:0009101	Submucous cleft lip
OMIM:312870	GPC4	2239	HP:0001537	Umbilical hernia
OMIM:312870	GPC4	2239	HP:0001669	Transposition of the great arteries
OMIM:312870	GPC4	2239	HP:0001762	Talipes equinovarus
OMIM:312870	GPC4	2239	HP:0000286	Epicanthus
OMIM:312870	GPC4	2239	HP:0001773	Short foot
OMIM:312870	GPC4	2239	HP:0000689	Dental malocclusion
OMIM:312870	GPC4	2239	HP:0002558	Supernumerary nipple
OMIM:312870	GPC4	2239	HP:0001769	Broad foot
OMIM:312870	GPC4	2239	HP:0001748	Polysplenia
OMIM:312870	GPC4	2239	HP:0003517	Birth length greater than 97th percentile
OMIM:312870	GPC4	2239	HP:0003185	Short sacroiliac notch
OMIM:312870	GPC4	2239	HP:0000238	Hydrocephalus
OMIM:312870	GPC4	2239	HP:0001629	Ventricular septal defect
OMIM:312870	GPC4	2239	HP:0002101	Abnormal lung lobation
OMIM:312870	GPC4	2239	HP:0001162	Postaxial hand polydactyly
OMIM:312870	GPC4	2239	HP:0001744	Splenomegaly
OMIM:312870	GPC4	2239	HP:0001792	Small nail
OMIM:312870	GPC4	2239	HP:0001169	Broad palm
OMIM:312870	GPC4	2239	HP:0008523	Posterior helix pit
OMIM:312870	GPC4	2239	HP:0000316	Hypertelorism
OMIM:312870	GPC4	2239	HP:0005580	Duplication of renal pelvis
OMIM:312870	GPC4	2239	HP:0000494	Downslanted palpebral fissures
OMIM:312870	GPC4	2239	HP:0000463	Anteverted nares
OMIM:312870	GPC4	2239	HP:0001320	Cerebellar vermis hypoplasia
OMIM:312870	GPC3	2719	HP:0000175	Cleft palate
OMIM:312870	GPC3	2719	HP:0002245	Meckel diverticulum
OMIM:312870	GPC3	2719	HP:0003422	Vertebral segmentation defect
OMIM:312870	GPC3	2719	HP:0004279	Short palm
OMIM:312870	GPC3	2719	HP:0000776	Congenital diaphragmatic hernia
OMIM:312870	GPC3	2719	HP:0000154	Wide mouth
OMIM:312870	GPC3	2719	HP:0001642	Pulmonic stenosis
OMIM:312870	GPC3	2719	HP:0000107	Renal cyst
OMIM:312870	GPC3	2719	HP:0000384	Preauricular skin tag
OMIM:312870	GPC3	2719	HP:0000047	Hypospadias
OMIM:312870	GPC3	2719	HP:0000256	Macrocephaly
OMIM:312870	GPC3	2719	HP:0009882	Short distal phalanx of finger
OMIM:312870	GPC3	2719	HP:0008416	Six lumbar vertebrae
OMIM:312870	GPC3	2719	HP:0000105	Enlarged kidney
OMIM:312870	GPC3	2719	HP:0000365	Hearing impairment
OMIM:312870	GPC3	2719	HP:0002650	Scoliosis
OMIM:312870	GPC3	2719	HP:0004467	Preauricular pit
OMIM:312870	GPC3	2719	HP:0008803	Narrow sacroiliac notch
OMIM:312870	GPC3	2719	HP:0001233	2-3 finger syndactyly
OMIM:312870	GPC3	2719	HP:0000891	Cervical ribs
OMIM:312870	GPC3	2719	HP:0000158	Macroglossia
OMIM:312870	GPC3	2719	HP:0011304	Broad thumb
OMIM:312870	GPC3	2719	HP:0001290	Generalized hypotonia
OMIM:312870	GPC3	2719	HP:0001837	Broad toe
OMIM:312870	GPC3	2719	HP:0005280	Depressed nasal bridge
OMIM:312870	GPC3	2719	HP:0000280	Coarse facial features
OMIM:312870	GPC3	2719	HP:0002667	Nephroblastoma
OMIM:312870	GPC3	2719	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:312870	GPC3	2719	HP:0003196	Short nose
OMIM:312870	GPC3	2719	HP:0011675	Arrhythmia
OMIM:312870	GPC3	2719	HP:0000028	Cryptorchidism
OMIM:312870	GPC3	2719	HP:0002566	Intestinal malrotation
OMIM:312870	GPC3	2719	HP:0001419	X-linked recessive inheritance
OMIM:312870	GPC3	2719	HP:0005616	Accelerated skeletal maturation
OMIM:312870	GPC3	2719	HP:0002869	Flared iliac wings
OMIM:312870	GPC3	2719	HP:0000431	Wide nasal bridge
OMIM:312870	GPC3	2719	HP:0000767	Pectus excavatum
OMIM:312870	GPC3	2719	HP:0006176	Two carpal ossification centers present at birth
OMIM:312870	GPC3	2719	HP:0001540	Diastasis recti
OMIM:312870	GPC3	2719	HP:0001274	Agenesis of corpus callosum
OMIM:312870	GPC3	2719	HP:0001643	Patent ductus arteriosus
OMIM:312870	GPC3	2719	HP:0002240	Hepatomegaly
OMIM:312870	GPC3	2719	HP:0000023	Inguinal hernia
OMIM:312870	GPC3	2719	HP:0001638	Cardiomyopathy
OMIM:312870	GPC3	2719	HP:0000216	Broad secondary alveolar ridge
OMIM:312870	GPC3	2719	HP:0009101	Submucous cleft lip
OMIM:312870	GPC3	2719	HP:0001537	Umbilical hernia
OMIM:312870	GPC3	2719	HP:0001669	Transposition of the great arteries
OMIM:312870	GPC3	2719	HP:0001762	Talipes equinovarus
OMIM:312870	GPC3	2719	HP:0000286	Epicanthus
OMIM:312870	GPC3	2719	HP:0001773	Short foot
OMIM:312870	GPC3	2719	HP:0000689	Dental malocclusion
OMIM:312870	GPC3	2719	HP:0002558	Supernumerary nipple
OMIM:312870	GPC3	2719	HP:0001769	Broad foot
OMIM:312870	GPC3	2719	HP:0001748	Polysplenia
OMIM:312870	GPC3	2719	HP:0003517	Birth length greater than 97th percentile
OMIM:312870	GPC3	2719	HP:0003185	Short sacroiliac notch
OMIM:312870	GPC3	2719	HP:0000238	Hydrocephalus
OMIM:312870	GPC3	2719	HP:0001629	Ventricular septal defect
OMIM:312870	GPC3	2719	HP:0002101	Abnormal lung lobation
OMIM:312870	GPC3	2719	HP:0001162	Postaxial hand polydactyly
OMIM:312870	GPC3	2719	HP:0001744	Splenomegaly
OMIM:312870	GPC3	2719	HP:0001792	Small nail
OMIM:312870	GPC3	2719	HP:0001169	Broad palm
OMIM:312870	GPC3	2719	HP:0008523	Posterior helix pit
OMIM:312870	GPC3	2719	HP:0000316	Hypertelorism
OMIM:312870	GPC3	2719	HP:0005580	Duplication of renal pelvis
OMIM:312870	GPC3	2719	HP:0000494	Downslanted palpebral fissures
OMIM:312870	GPC3	2719	HP:0000463	Anteverted nares
OMIM:312870	GPC3	2719	HP:0001320	Cerebellar vermis hypoplasia
OMIM:300844	RPS6KA3	6197	HP:0001423	X-linked dominant inheritance
OMIM:300844	RPS6KA3	6197	HP:0000179	Thick lower lip vermilion
OMIM:300844	RPS6KA3	6197	HP:0000455	Broad nasal tip
OMIM:300844	RPS6KA3	6197	HP:0001833	Long foot
OMIM:300844	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300844	RPS6KA3	6197	HP:0001290	Generalized hypotonia
OMIM:300844	RPS6KA3	6197	HP:0011220	Prominent forehead
OMIM:300844	RPS6KA3	6197	HP:0001270	Motor delay
OMIM:300844	RPS6KA3	6197	HP:0002751	Kyphoscoliosis
OMIM:300844	RPS6KA3	6197	HP:0000678	Dental crowding
OMIM:300844	RPS6KA3	6197	HP:0001249	Intellectual disability
ORPHA:79432	OCA2	4948	HP:0007730	Iris hypopigmentation
ORPHA:79432	OCA2	4948	HP:0000587	Abnormality of the optic nerve
ORPHA:79432	OCA2	4948	HP:0000486	Strabismus
ORPHA:79432	OCA2	4948	HP:0000613	Photophobia
ORPHA:79432	OCA2	4948	HP:0001022	Albinism
ORPHA:79432	OCA2	4948	HP:0001480	Freckling
ORPHA:79432	OCA2	4948	HP:0000639	Nystagmus
ORPHA:79432	OCA2	4948	HP:0000505	Visual impairment
ORPHA:79432	MC1R	4157	HP:0007730	Iris hypopigmentation
ORPHA:79432	MC1R	4157	HP:0000587	Abnormality of the optic nerve
ORPHA:79432	MC1R	4157	HP:0000486	Strabismus
ORPHA:79432	MC1R	4157	HP:0000613	Photophobia
ORPHA:79432	MC1R	4157	HP:0001022	Albinism
ORPHA:79432	MC1R	4157	HP:0001480	Freckling
ORPHA:79432	MC1R	4157	HP:0000639	Nystagmus
ORPHA:79432	MC1R	4157	HP:0000505	Visual impairment
OMIM:609706	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609706	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:257850	GJA1	2697	HP:0000678	Dental crowding
OMIM:257850	GJA1	2697	HP:0007930	Prominent epicanthal folds
OMIM:257850	GJA1	2697	HP:0200055	Small hand
OMIM:257850	GJA1	2697	HP:0000682	Abnormality of dental enamel
OMIM:257850	GJA1	2697	HP:0011342	Mild global developmental delay
OMIM:257850	GJA1	2697	HP:0000653	Sparse eyelashes
OMIM:257850	GJA1	2697	HP:0001773	Short foot
OMIM:257850	GJA1	2697	HP:0000248	Brachycephaly
OMIM:257850	GJA1	2697	HP:0002750	Delayed skeletal maturation
OMIM:257850	GJA1	2697	HP:0005622	Broad long bones
OMIM:257850	GJA1	2697	HP:0000482	Microcornea
OMIM:257850	GJA1	2697	HP:0004322	Short stature
OMIM:257850	GJA1	2697	HP:0000233	Thin vermilion border
OMIM:257850	GJA1	2697	HP:0005769	Fifth finger distal phalanx clinodactyly
OMIM:257850	GJA1	2697	HP:0006482	Abnormality of dental morphology
OMIM:257850	GJA1	2697	HP:0000343	Long philtrum
OMIM:257850	GJA1	2697	HP:0000430	Underdeveloped nasal alae
OMIM:257850	GJA1	2697	HP:0000545	Myopia
OMIM:257850	GJA1	2697	HP:0000568	Microphthalmia
OMIM:257850	GJA1	2697	HP:0000675	Macrodontia of permanent maxillary central incisor
OMIM:257850	GJA1	2697	HP:0003189	Long nose
OMIM:257850	GJA1	2697	HP:0000160	Narrow mouth
OMIM:257850	GJA1	2697	HP:0000494	Downslanted palpebral fissures
OMIM:257850	GJA1	2697	HP:0000684	Delayed eruption of teeth
OMIM:257850	GJA1	2697	HP:0000347	Micrognathia
OMIM:257850	GJA1	2697	HP:0000518	Cataract
OMIM:257850	GJA1	2697	HP:0000685	Hypoplasia of teeth
OMIM:257850	GJA1	2697	HP:0000369	Low-set ears
OMIM:257850	GJA1	2697	HP:0005768	2-4 toe cutaneous syndactyly
OMIM:257850	GJA1	2697	HP:0010705	4-5 finger syndactyly
OMIM:257850	GJA1	2697	HP:0000460	Narrow nose
OMIM:257850	GJA1	2697	HP:0009917	Persistent pupillary membrane
OMIM:257850	GJA1	2697	HP:0012745	Short palpebral fissure
OMIM:257850	GJA1	2697	HP:0000327	Hypoplasia of the maxilla
OMIM:257850	GJA1	2697	HP:0009748	Large earlobe
OMIM:257850	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:257850	GJA1	2697	HP:0002007	Frontal bossing
OMIM:257850	GJA1	2697	HP:0000689	Dental malocclusion
OMIM:257850	GJA1	2697	HP:0001508	Failure to thrive
OMIM:257850	GJA1	2697	HP:0000506	Telecanthus
ORPHA:101078	AIFM1	9131	HP:0000763	Sensory neuropathy
ORPHA:101078	AIFM1	9131	HP:0002808	Kyphosis
ORPHA:101078	AIFM1	9131	HP:0007328	Impaired pain sensation
ORPHA:101078	AIFM1	9131	HP:0000762	Decreased nerve conduction velocity
ORPHA:101078	AIFM1	9131	HP:0001284	Areflexia
ORPHA:101078	AIFM1	9131	HP:0001761	Pes cavus
ORPHA:101078	AIFM1	9131	HP:0007141	Sensorimotor neuropathy
ORPHA:101078	AIFM1	9131	HP:0000365	Hearing impairment
ORPHA:101078	AIFM1	9131	HP:0003202	Skeletal muscle atrophy
ORPHA:101078	AIFM1	9131	HP:0001249	Intellectual disability
ORPHA:101078	AIFM1	9131	HP:0002460	Distal muscle weakness
ORPHA:101078	AIFM1	9131	HP:0002650	Scoliosis
OMIM:202650	PRRX1	5396	HP:0100663	Synotia
OMIM:202650	PRRX1	5396	HP:0002779	Tracheomalacia
OMIM:202650	PRRX1	5396	HP:0000171	Microglossia
OMIM:202650	PRRX1	5396	HP:0009939	Mandibular aplasia
OMIM:202650	PRRX1	5396	HP:0001274	Agenesis of corpus callosum
OMIM:202650	PRRX1	5396	HP:0000160	Narrow mouth
OMIM:202650	PRRX1	5396	HP:0002098	Respiratory distress
OMIM:202650	PRRX1	5396	HP:0001360	Holoprosencephaly
OMIM:202650	PRRX1	5396	HP:0000175	Cleft palate
OMIM:202650	PRRX1	5396	HP:0003812	Phenotypic variability
OMIM:202650	PRRX1	5396	HP:0000347	Micrognathia
OMIM:202650	PRRX1	5396	HP:0012730	Aglossia
OMIM:202650	PRRX1	5396	HP:0000494	Downslanted palpebral fissures
OMIM:202650	PRRX1	5396	HP:0000007	Autosomal recessive inheritance
OMIM:202650	PRRX1	5396	HP:0000405	Conductive hearing impairment
OMIM:202650	PRRX1	5396	HP:0008749	Laryngeal hypoplasia
OMIM:202650	PRRX1	5396	HP:0000006	Autosomal dominant inheritance
OMIM:202650	PRRX1	5396	HP:0001696	Situs inversus totalis
OMIM:202650	PRRX1	5396	HP:0005349	Hypoplasia of the epiglottis
OMIM:202650	PRRX1	5396	HP:0000478	Abnormality of the eye
OMIM:246900	DLD	1738	HP:0011968	Feeding difficulties
OMIM:246900	DLD	1738	HP:0001298	Encephalopathy
OMIM:246900	DLD	1738	HP:0001251	Ataxia
OMIM:246900	DLD	1738	HP:0001639	Hypertrophic cardiomyopathy
OMIM:246900	DLD	1738	HP:0001263	Global developmental delay
OMIM:246900	DLD	1738	HP:0000007	Autosomal recessive inheritance
OMIM:246900	DLD	1738	HP:0001250	Seizures
OMIM:246900	DLD	1738	HP:0001290	Generalized hypotonia
OMIM:246900	DLD	1738	HP:0001332	Dystonia
OMIM:246900	DLD	1738	HP:0001942	Metabolic acidosis
OMIM:246900	DLD	1738	HP:0001943	Hypoglycemia
OMIM:246900	DLD	1738	HP:0000252	Microcephaly
OMIM:246900	DLD	1738	HP:0003828	Variable expressivity
OMIM:246900	DLD	1738	HP:0001254	Lethargy
OMIM:246900	DLD	1738	HP:0003128	Lactic acidosis
OMIM:607676	IRAK4	51135	HP:0002721	Immunodeficiency
OMIM:615458	ADAMTS18	170692	HP:0000455	Broad nasal tip
OMIM:615458	ADAMTS18	170692	HP:0000358	Posteriorly rotated ears
OMIM:615458	ADAMTS18	170692	HP:0000007	Autosomal recessive inheritance
OMIM:615458	ADAMTS18	170692	HP:0000445	Wide nose
OMIM:615458	ADAMTS18	170692	HP:0000482	Microcornea
OMIM:615458	ADAMTS18	170692	HP:0000506	Telecanthus
OMIM:121900	TGFBI	7045	HP:0000486	Strabismus
OMIM:121900	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:121900	TGFBI	7045	HP:0000518	Cataract
OMIM:121900	TGFBI	7045	HP:0007802	Granular corneal dystrophy
OMIM:121900	TGFBI	7045	HP:0007809	Punctate corneal dystrophy
OMIM:121900	TGFBI	7045	HP:0007827	Nodular corneal dystrophy
OMIM:608030	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:608030	FUS	2521	HP:0001288	Gait disturbance
OMIM:608030	FUS	2521	HP:0002380	Fasciculations
OMIM:608030	FUS	2521	HP:0007126	Proximal amyotrophy
OMIM:608030	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	FUS	2521	HP:0001265	Hyporeflexia
OMIM:608030	FUS	2521	HP:0002529	Neuronal loss in central nervous system
OMIM:615157	TTC19	54902	HP:0002075	Dysdiadochokinesis
OMIM:615157	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615157	TTC19	54902	HP:0001337	Tremor
OMIM:615157	TTC19	54902	HP:0002542	Olivopontocerebellar atrophy
OMIM:615157	TTC19	54902	HP:0002067	Bradykinesia
OMIM:615157	TTC19	54902	HP:0000738	Hallucinations
OMIM:615157	TTC19	54902	HP:0040078	Axonal degeneration
OMIM:615157	TTC19	54902	HP:0001260	Dysarthria
OMIM:615157	TTC19	54902	HP:0001324	Muscle weakness
OMIM:615157	TTC19	54902	HP:0100543	Cognitive impairment
OMIM:615157	TTC19	54902	HP:0003812	Phenotypic variability
OMIM:615157	TTC19	54902	HP:0001272	Cerebellar atrophy
OMIM:615157	TTC19	54902	HP:0000716	Depressivity
OMIM:615157	TTC19	54902	HP:0002059	Cerebral atrophy
OMIM:615157	TTC19	54902	HP:0000709	Psychosis
OMIM:615157	TTC19	54902	HP:0002180	Neurodegeneration
OMIM:615157	TTC19	54902	HP:0001618	Dysphonia
OMIM:615157	TTC19	54902	HP:0000739	Anxiety
OMIM:615157	TTC19	54902	HP:0000639	Nystagmus
OMIM:615157	TTC19	54902	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	TTC19	54902	HP:0003202	Skeletal muscle atrophy
OMIM:615157	TTC19	54902	HP:0002313	Spastic paraparesis
OMIM:615157	TTC19	54902	HP:0001310	Dysmetria
OMIM:615157	TTC19	54902	HP:0002311	Incoordination
OMIM:615157	TTC19	54902	HP:0002186	Apraxia
OMIM:615157	TTC19	54902	HP:0001332	Dystonia
OMIM:615157	TTC19	54902	HP:0000718	Aggressive behavior
OMIM:235200	HFE	3077	HP:0000141	Amenorrhea
OMIM:235200	HFE	3077	HP:0002202	Pleural effusion
OMIM:235200	HFE	3077	HP:0001640	Cardiomegaly
OMIM:235200	HFE	3077	HP:0003452	Increased serum iron
OMIM:235200	HFE	3077	HP:0000819	Diabetes mellitus
OMIM:235200	HFE	3077	HP:0001744	Splenomegaly
OMIM:235200	HFE	3077	HP:0002027	Abdominal pain
OMIM:235200	HFE	3077	HP:0002240	Hepatomegaly
OMIM:235200	HFE	3077	HP:0001402	Hepatocellular carcinoma
OMIM:235200	HFE	3077	HP:0001394	Cirrhosis
OMIM:235200	HFE	3077	HP:0000953	Hyperpigmentation of the skin
OMIM:235200	HFE	3077	HP:0001009	Telangiectasia
OMIM:235200	HFE	3077	HP:0001635	Congestive heart failure
OMIM:235200	HFE	3077	HP:0000007	Autosomal recessive inheritance
OMIM:235200	HFE	3077	HP:0001952	Abnormal glucose tolerance
OMIM:235200	HFE	3077	HP:0000939	Osteoporosis
OMIM:235200	HFE	3077	HP:0000027	Azoospermia
OMIM:235200	HFE	3077	HP:0003281	Increased serum ferritin
OMIM:235200	HFE	3077	HP:0002910	Elevated hepatic transaminases
OMIM:235200	HFE	3077	HP:0011675	Arrhythmia
OMIM:235200	HFE	3077	HP:0001596	Alopecia
OMIM:235200	HFE	3077	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:235200	HFE	3077	HP:0000029	Testicular atrophy
OMIM:235200	HFE	3077	HP:0001541	Ascites
OMIM:235200	HFE	3077	HP:0000802	Impotence
OMIM:235200	HFE	3077	HP:0001638	Cardiomyopathy
OMIM:235200	HFE	3077	HP:0003040	Arthropathy
OMIM:611875	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:611875	CACNA1C	775	HP:0001279	Syncope
OMIM:611875	CACNA1C	775	HP:0012272	J wave
OMIM:611875	CACNA1C	775	HP:0012232	Shortened QT interval
OMIM:611875	CACNA1C	775	HP:0004308	Ventricular arrhythmia
OMIM:611875	CACNA1C	775	HP:0001645	Sudden cardiac death
OMIM:611875	CACNA1C	775	HP:0005110	Atrial fibrillation
OMIM:180849	EP300	2033	HP:0000579	Nasolacrimal duct obstruction
OMIM:180849	EP300	2033	HP:0000501	Glaucoma
OMIM:180849	EP300	2033	HP:0000520	Proptosis
OMIM:180849	EP300	2033	HP:0100710	Impulsivity
OMIM:180849	EP300	2033	HP:0000717	Autism
OMIM:180849	EP300	2033	HP:0000756	Agoraphobia
OMIM:180849	EP300	2033	HP:0000733	Stereotypy
OMIM:180849	EP300	2033	HP:0000278	Retrognathia
OMIM:180849	EP300	2033	HP:0001388	Joint laxity
OMIM:180849	EP300	2033	HP:0002700	Large foramen magnum
OMIM:180849	EP300	2033	HP:0000678	Dental crowding
OMIM:180849	EP300	2033	HP:0005895	Radial deviation of thumb terminal phalanx
OMIM:180849	EP300	2033	HP:0000431	Wide nasal bridge
OMIM:180849	EP300	2033	HP:0000049	Shawl scrotum
OMIM:180849	EP300	2033	HP:0000481	Abnormality of the cornea
OMIM:180849	EP300	2033	HP:0006483	Abnormal number of teeth
OMIM:180849	EP300	2033	HP:0000752	Hyperactivity
OMIM:180849	EP300	2033	HP:0000539	Abnormality of refraction
OMIM:180849	EP300	2033	HP:0001249	Intellectual disability
OMIM:180849	EP300	2033	HP:0002866	Hypoplastic iliac wing
OMIM:180849	EP300	2033	HP:0002007	Frontal bossing
OMIM:180849	EP300	2033	HP:0000286	Epicanthus
OMIM:180849	EP300	2033	HP:0000077	Abnormality of the kidney
OMIM:180849	EP300	2033	HP:0001601	Laryngomalacia
OMIM:180849	EP300	2033	HP:0000767	Pectus excavatum
OMIM:180849	EP300	2033	HP:0010562	Keloids
OMIM:180849	EP300	2033	HP:0000689	Dental malocclusion
OMIM:180849	EP300	2033	HP:0000954	Single transverse palmar crease
OMIM:180849	EP300	2033	HP:0001382	Joint hypermobility
OMIM:180849	EP300	2033	HP:0002019	Constipation
OMIM:180849	EP300	2033	HP:0002144	Tethered cord
OMIM:180849	EP300	2033	HP:0002869	Flared iliac wings
OMIM:180849	EP300	2033	HP:0001159	Syndactyly
OMIM:180849	EP300	2033	HP:0002999	Patellar dislocation
OMIM:180849	EP300	2033	HP:0000957	Cafe-au-lait spot
OMIM:180849	EP300	2033	HP:0000527	Long eyelashes
OMIM:180849	EP300	2033	HP:0002251	Aganglionic megacolon
OMIM:180849	EP300	2033	HP:0002317	Unsteady gait
OMIM:180849	EP300	2033	HP:0003828	Variable expressivity
OMIM:180849	EP300	2033	HP:0005306	Capillary hemangiomas
OMIM:180849	EP300	2033	HP:0003319	Abnormality of the cervical spine
OMIM:180849	EP300	2033	HP:0003083	Dislocated radial head
OMIM:180849	EP300	2033	HP:0000750	Delayed speech and language development
OMIM:180849	EP300	2033	HP:0001335	Bimanual synkinesia
OMIM:180849	EP300	2033	HP:0001643	Patent ductus arteriosus
OMIM:180849	EP300	2033	HP:0001561	Polyhydramnios
OMIM:180849	EP300	2033	HP:0003298	Spina bifida occulta
OMIM:180849	EP300	2033	HP:0001007	Hirsutism
OMIM:180849	EP300	2033	HP:0000486	Strabismus
OMIM:180849	EP300	2033	HP:0002236	Frontal upsweep of hair
OMIM:180849	EP300	2033	HP:0001629	Ventricular septal defect
OMIM:180849	EP300	2033	HP:0004411	Deviated nasal septum
OMIM:180849	EP300	2033	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:180849	EP300	2033	HP:0000218	High palate
OMIM:180849	EP300	2033	HP:0001763	Pes planus
OMIM:180849	EP300	2033	HP:0001212	Prominent fingertip pads
OMIM:180849	EP300	2033	HP:0000028	Cryptorchidism
OMIM:180849	EP300	2033	HP:0000189	Narrow palate
OMIM:180849	EP300	2033	HP:0000047	Hypospadias
OMIM:180849	EP300	2033	HP:0004322	Short stature
OMIM:180849	EP300	2033	HP:0000327	Hypoplasia of the maxilla
OMIM:180849	EP300	2033	HP:0000252	Microcephaly
OMIM:180849	EP300	2033	HP:0000347	Micrognathia
OMIM:180849	EP300	2033	HP:0000369	Low-set ears
OMIM:180849	EP300	2033	HP:0002098	Respiratory distress
OMIM:180849	EP300	2033	HP:0000006	Autosomal dominant inheritance
OMIM:180849	EP300	2033	HP:0008107	Plantar crease between first and second toes
OMIM:180849	EP300	2033	HP:0002553	Highly arched eyebrow
OMIM:180849	EP300	2033	HP:0009765	Low hanging columella
OMIM:180849	EP300	2033	HP:0002650	Scoliosis
OMIM:180849	EP300	2033	HP:0001347	Hyperreflexia
OMIM:180849	EP300	2033	HP:0003745	Sporadic
OMIM:180849	EP300	2033	HP:0002370	Poor coordination
OMIM:180849	EP300	2033	HP:0004209	Clinodactyly of the 5th finger
OMIM:180849	EP300	2033	HP:0010066	Duplication of phalanx of hallux
OMIM:180849	EP300	2033	HP:0000444	Convex nasal ridge
OMIM:180849	EP300	2033	HP:0001274	Agenesis of corpus callosum
OMIM:180849	EP300	2033	HP:0000574	Thick eyebrow
OMIM:180849	EP300	2033	HP:0002788	Recurrent upper respiratory tract infections
OMIM:180849	EP300	2033	HP:0011304	Broad thumb
OMIM:180849	EP300	2033	HP:0006297	Hypoplasia of dental enamel
OMIM:180849	EP300	2033	HP:0010055	Broad hallux
OMIM:180849	EP300	2033	HP:0000508	Ptosis
OMIM:180849	EP300	2033	HP:0000160	Narrow mouth
OMIM:180849	EP300	2033	HP:0000490	Deeply set eye
OMIM:180849	EP300	2033	HP:0010775	Vascular ring
OMIM:180849	EP300	2033	HP:0000273	Facial grimacing
OMIM:180849	EP300	2033	HP:0002183	Phonophobia
OMIM:180849	EP300	2033	HP:0001290	Generalized hypotonia
OMIM:180849	EP300	2033	HP:0000377	Abnormality of the pinna
OMIM:180849	EP300	2033	HP:0011087	Talon cusp
OMIM:180849	EP300	2033	HP:0000494	Downslanted palpebral fissures
OMIM:180849	EP300	2033	HP:0010442	Polydactyly
OMIM:180849	EP300	2033	HP:0009921	Duane anomaly
OMIM:180849	EP300	2033	HP:0011675	Arrhythmia
OMIM:180849	EP300	2033	HP:0001425	Heterogeneous
OMIM:180849	EP300	2033	HP:0008872	Feeding difficulties in infancy
OMIM:180849	EP300	2033	HP:0000294	Low anterior hairline
OMIM:180849	EP300	2033	HP:0000365	Hearing impairment
OMIM:180849	EP300	2033	HP:0001250	Seizures
OMIM:180849	EP300	2033	HP:0001508	Failure to thrive
OMIM:180849	EP300	2033	HP:0009715	Papillary cystadenoma of the epididymis
OMIM:180849	EP300	2033	HP:0000736	Short attention span
OMIM:180849	EP300	2033	HP:0002697	Parietal foramina
OMIM:180849	EP300	2033	HP:0000260	Wide anterior fontanel
OMIM:180849	EP300	2033	HP:0000589	Coloboma
OMIM:180849	EP300	2033	HP:0001371	Flexion contracture
OMIM:180849	EP300	2033	HP:0000518	Cataract
OMIM:180849	EP300	2033	HP:0010314	Premature thelarche
OMIM:180849	EP300	2033	HP:0000742	Self-mutilation
OMIM:180849	EP300	2033	HP:0001135	Chorioretinal dystrophy
OMIM:180849	EP300	2033	HP:0000270	Delayed cranial suture closure
OMIM:180849	EP300	2033	HP:0002870	Obstructive sleep apnea
OMIM:180849	EP300	2033	HP:0002353	EEG abnormality
OMIM:180849	EP300	2033	HP:0001956	Truncal obesity
OMIM:180849	EP300	2033	HP:0001042	High axial triradius
OMIM:180849	EP300	2033	HP:0001252	Muscular hypotonia
OMIM:180849	EP300	2033	HP:0008897	Postnatal growth retardation
OMIM:180849	EP300	2033	HP:0001631	Atrial septal defect
OMIM:180849	EP300	2033	HP:0002162	Low posterior hairline
OMIM:180849	EP300	2033	HP:0002750	Delayed skeletal maturation
OMIM:180849	EP300	2033	HP:0000136	Bifid uterus
OMIM:180849	CREBBP	1387	HP:0000579	Nasolacrimal duct obstruction
OMIM:180849	CREBBP	1387	HP:0000501	Glaucoma
OMIM:180849	CREBBP	1387	HP:0000520	Proptosis
OMIM:180849	CREBBP	1387	HP:0100710	Impulsivity
OMIM:180849	CREBBP	1387	HP:0000717	Autism
OMIM:180849	CREBBP	1387	HP:0000756	Agoraphobia
OMIM:180849	CREBBP	1387	HP:0000733	Stereotypy
OMIM:180849	CREBBP	1387	HP:0000278	Retrognathia
OMIM:180849	CREBBP	1387	HP:0001388	Joint laxity
OMIM:180849	CREBBP	1387	HP:0002700	Large foramen magnum
OMIM:180849	CREBBP	1387	HP:0000678	Dental crowding
OMIM:180849	CREBBP	1387	HP:0005895	Radial deviation of thumb terminal phalanx
OMIM:180849	CREBBP	1387	HP:0000431	Wide nasal bridge
OMIM:180849	CREBBP	1387	HP:0000049	Shawl scrotum
OMIM:180849	CREBBP	1387	HP:0000481	Abnormality of the cornea
OMIM:180849	CREBBP	1387	HP:0006483	Abnormal number of teeth
OMIM:180849	CREBBP	1387	HP:0000752	Hyperactivity
OMIM:180849	CREBBP	1387	HP:0000539	Abnormality of refraction
OMIM:180849	CREBBP	1387	HP:0001249	Intellectual disability
OMIM:180849	CREBBP	1387	HP:0002866	Hypoplastic iliac wing
OMIM:180849	CREBBP	1387	HP:0002007	Frontal bossing
OMIM:180849	CREBBP	1387	HP:0000286	Epicanthus
OMIM:180849	CREBBP	1387	HP:0000077	Abnormality of the kidney
OMIM:180849	CREBBP	1387	HP:0001601	Laryngomalacia
OMIM:180849	CREBBP	1387	HP:0000767	Pectus excavatum
OMIM:180849	CREBBP	1387	HP:0010562	Keloids
OMIM:180849	CREBBP	1387	HP:0000689	Dental malocclusion
OMIM:180849	CREBBP	1387	HP:0000954	Single transverse palmar crease
OMIM:180849	CREBBP	1387	HP:0001382	Joint hypermobility
OMIM:180849	CREBBP	1387	HP:0002019	Constipation
OMIM:180849	CREBBP	1387	HP:0002144	Tethered cord
OMIM:180849	CREBBP	1387	HP:0002869	Flared iliac wings
OMIM:180849	CREBBP	1387	HP:0001159	Syndactyly
OMIM:180849	CREBBP	1387	HP:0002999	Patellar dislocation
OMIM:180849	CREBBP	1387	HP:0000957	Cafe-au-lait spot
OMIM:180849	CREBBP	1387	HP:0000527	Long eyelashes
OMIM:180849	CREBBP	1387	HP:0002251	Aganglionic megacolon
OMIM:180849	CREBBP	1387	HP:0002317	Unsteady gait
OMIM:180849	CREBBP	1387	HP:0003828	Variable expressivity
OMIM:180849	CREBBP	1387	HP:0005306	Capillary hemangiomas
OMIM:180849	CREBBP	1387	HP:0003319	Abnormality of the cervical spine
OMIM:180849	CREBBP	1387	HP:0003083	Dislocated radial head
OMIM:180849	CREBBP	1387	HP:0000750	Delayed speech and language development
OMIM:180849	CREBBP	1387	HP:0001335	Bimanual synkinesia
OMIM:180849	CREBBP	1387	HP:0001643	Patent ductus arteriosus
OMIM:180849	CREBBP	1387	HP:0001561	Polyhydramnios
OMIM:180849	CREBBP	1387	HP:0003298	Spina bifida occulta
OMIM:180849	CREBBP	1387	HP:0001007	Hirsutism
OMIM:180849	CREBBP	1387	HP:0000486	Strabismus
OMIM:180849	CREBBP	1387	HP:0002236	Frontal upsweep of hair
OMIM:180849	CREBBP	1387	HP:0001629	Ventricular septal defect
OMIM:180849	CREBBP	1387	HP:0004411	Deviated nasal septum
OMIM:180849	CREBBP	1387	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:180849	CREBBP	1387	HP:0000218	High palate
OMIM:180849	CREBBP	1387	HP:0001763	Pes planus
OMIM:180849	CREBBP	1387	HP:0001212	Prominent fingertip pads
OMIM:180849	CREBBP	1387	HP:0000028	Cryptorchidism
OMIM:180849	CREBBP	1387	HP:0000189	Narrow palate
OMIM:180849	CREBBP	1387	HP:0000047	Hypospadias
OMIM:180849	CREBBP	1387	HP:0004322	Short stature
OMIM:180849	CREBBP	1387	HP:0000327	Hypoplasia of the maxilla
OMIM:180849	CREBBP	1387	HP:0000252	Microcephaly
OMIM:180849	CREBBP	1387	HP:0000347	Micrognathia
OMIM:180849	CREBBP	1387	HP:0000369	Low-set ears
OMIM:180849	CREBBP	1387	HP:0002098	Respiratory distress
OMIM:180849	CREBBP	1387	HP:0000006	Autosomal dominant inheritance
OMIM:180849	CREBBP	1387	HP:0008107	Plantar crease between first and second toes
OMIM:180849	CREBBP	1387	HP:0002553	Highly arched eyebrow
OMIM:180849	CREBBP	1387	HP:0009765	Low hanging columella
OMIM:180849	CREBBP	1387	HP:0002650	Scoliosis
OMIM:180849	CREBBP	1387	HP:0001347	Hyperreflexia
OMIM:180849	CREBBP	1387	HP:0003745	Sporadic
OMIM:180849	CREBBP	1387	HP:0002370	Poor coordination
OMIM:180849	CREBBP	1387	HP:0004209	Clinodactyly of the 5th finger
OMIM:180849	CREBBP	1387	HP:0010066	Duplication of phalanx of hallux
OMIM:180849	CREBBP	1387	HP:0000444	Convex nasal ridge
OMIM:180849	CREBBP	1387	HP:0001274	Agenesis of corpus callosum
OMIM:180849	CREBBP	1387	HP:0000574	Thick eyebrow
OMIM:180849	CREBBP	1387	HP:0002788	Recurrent upper respiratory tract infections
OMIM:180849	CREBBP	1387	HP:0011304	Broad thumb
OMIM:180849	CREBBP	1387	HP:0006297	Hypoplasia of dental enamel
OMIM:180849	CREBBP	1387	HP:0010055	Broad hallux
OMIM:180849	CREBBP	1387	HP:0000508	Ptosis
OMIM:180849	CREBBP	1387	HP:0000160	Narrow mouth
OMIM:180849	CREBBP	1387	HP:0000490	Deeply set eye
OMIM:180849	CREBBP	1387	HP:0010775	Vascular ring
OMIM:180849	CREBBP	1387	HP:0000273	Facial grimacing
OMIM:180849	CREBBP	1387	HP:0002183	Phonophobia
OMIM:180849	CREBBP	1387	HP:0001290	Generalized hypotonia
OMIM:180849	CREBBP	1387	HP:0000377	Abnormality of the pinna
OMIM:180849	CREBBP	1387	HP:0011087	Talon cusp
OMIM:180849	CREBBP	1387	HP:0000494	Downslanted palpebral fissures
OMIM:180849	CREBBP	1387	HP:0010442	Polydactyly
OMIM:180849	CREBBP	1387	HP:0009921	Duane anomaly
OMIM:180849	CREBBP	1387	HP:0011675	Arrhythmia
OMIM:180849	CREBBP	1387	HP:0001425	Heterogeneous
OMIM:180849	CREBBP	1387	HP:0008872	Feeding difficulties in infancy
OMIM:180849	CREBBP	1387	HP:0000294	Low anterior hairline
OMIM:180849	CREBBP	1387	HP:0000365	Hearing impairment
OMIM:180849	CREBBP	1387	HP:0001250	Seizures
OMIM:180849	CREBBP	1387	HP:0001508	Failure to thrive
OMIM:180849	CREBBP	1387	HP:0009715	Papillary cystadenoma of the epididymis
OMIM:180849	CREBBP	1387	HP:0000736	Short attention span
OMIM:180849	CREBBP	1387	HP:0002697	Parietal foramina
OMIM:180849	CREBBP	1387	HP:0000260	Wide anterior fontanel
OMIM:180849	CREBBP	1387	HP:0000589	Coloboma
OMIM:180849	CREBBP	1387	HP:0001371	Flexion contracture
OMIM:180849	CREBBP	1387	HP:0000518	Cataract
OMIM:180849	CREBBP	1387	HP:0010314	Premature thelarche
OMIM:180849	CREBBP	1387	HP:0000742	Self-mutilation
OMIM:180849	CREBBP	1387	HP:0001135	Chorioretinal dystrophy
OMIM:180849	CREBBP	1387	HP:0000270	Delayed cranial suture closure
OMIM:180849	CREBBP	1387	HP:0002870	Obstructive sleep apnea
OMIM:180849	CREBBP	1387	HP:0002353	EEG abnormality
OMIM:180849	CREBBP	1387	HP:0001956	Truncal obesity
OMIM:180849	CREBBP	1387	HP:0001042	High axial triradius
OMIM:180849	CREBBP	1387	HP:0001252	Muscular hypotonia
OMIM:180849	CREBBP	1387	HP:0008897	Postnatal growth retardation
OMIM:180849	CREBBP	1387	HP:0001631	Atrial septal defect
OMIM:180849	CREBBP	1387	HP:0002162	Low posterior hairline
OMIM:180849	CREBBP	1387	HP:0002750	Delayed skeletal maturation
OMIM:180849	CREBBP	1387	HP:0000136	Bifid uterus
ORPHA:899	B4GAT1	11041	HP:0001263	Global developmental delay
ORPHA:899	B4GAT1	11041	HP:0001331	Absent septum pellucidum
ORPHA:899	B4GAT1	11041	HP:0000556	Retinal dystrophy
ORPHA:899	B4GAT1	11041	HP:0007731	Chorioretinal dysplasia
ORPHA:899	B4GAT1	11041	HP:0007957	Corneal opacity
ORPHA:899	B4GAT1	11041	HP:0000501	Glaucoma
ORPHA:899	B4GAT1	11041	HP:0001265	Hyporeflexia
ORPHA:899	B4GAT1	11041	HP:0000028	Cryptorchidism
ORPHA:899	B4GAT1	11041	HP:0001324	Muscle weakness
ORPHA:899	B4GAT1	11041	HP:0000238	Hydrocephalus
ORPHA:899	B4GAT1	11041	HP:0001328	Specific learning disability
ORPHA:899	B4GAT1	11041	HP:0003202	Skeletal muscle atrophy
ORPHA:899	B4GAT1	11041	HP:0001302	Pachygyria
ORPHA:899	B4GAT1	11041	HP:0003560	Muscular dystrophy
ORPHA:899	B4GAT1	11041	HP:0001284	Areflexia
ORPHA:899	B4GAT1	11041	HP:0007973	Retinal dysplasia
ORPHA:899	B4GAT1	11041	HP:0000256	Macrocephaly
ORPHA:899	B4GAT1	11041	HP:0000568	Microphthalmia
ORPHA:899	B4GAT1	11041	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	B4GAT1	11041	HP:0001339	Lissencephaly
ORPHA:899	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
ORPHA:899	B4GAT1	11041	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	B4GAT1	11041	HP:0012400	Abnormal aldolase level
ORPHA:899	B4GAT1	11041	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	B4GAT1	11041	HP:0008736	Hypoplasia of penis
ORPHA:899	B4GAT1	11041	HP:0007227	Macrogyria
ORPHA:899	B4GAT1	11041	HP:0000528	Anophthalmia
ORPHA:899	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
ORPHA:899	B4GAT1	11041	HP:0001252	Muscular hypotonia
ORPHA:899	B4GAT1	11041	HP:0002126	Polymicrogyria
ORPHA:899	B4GAT1	11041	HP:0000648	Optic atrophy
ORPHA:899	B4GAT1	11041	HP:0000541	Retinal detachment
ORPHA:899	B4GAT1	11041	HP:0001249	Intellectual disability
ORPHA:899	B4GAT1	11041	HP:0010508	Metatarsus valgus
ORPHA:899	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
ORPHA:899	POMT2	29954	HP:0001263	Global developmental delay
ORPHA:899	POMT2	29954	HP:0001331	Absent septum pellucidum
ORPHA:899	POMT2	29954	HP:0000556	Retinal dystrophy
ORPHA:899	POMT2	29954	HP:0007731	Chorioretinal dysplasia
ORPHA:899	POMT2	29954	HP:0007957	Corneal opacity
ORPHA:899	POMT2	29954	HP:0000501	Glaucoma
ORPHA:899	POMT2	29954	HP:0001265	Hyporeflexia
ORPHA:899	POMT2	29954	HP:0000028	Cryptorchidism
ORPHA:899	POMT2	29954	HP:0001324	Muscle weakness
ORPHA:899	POMT2	29954	HP:0000238	Hydrocephalus
ORPHA:899	POMT2	29954	HP:0001328	Specific learning disability
ORPHA:899	POMT2	29954	HP:0003202	Skeletal muscle atrophy
ORPHA:899	POMT2	29954	HP:0001302	Pachygyria
ORPHA:899	POMT2	29954	HP:0003560	Muscular dystrophy
ORPHA:899	POMT2	29954	HP:0001284	Areflexia
ORPHA:899	POMT2	29954	HP:0007973	Retinal dysplasia
ORPHA:899	POMT2	29954	HP:0000256	Macrocephaly
ORPHA:899	POMT2	29954	HP:0000568	Microphthalmia
ORPHA:899	POMT2	29954	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	POMT2	29954	HP:0001339	Lissencephaly
ORPHA:899	POMT2	29954	HP:0001321	Cerebellar hypoplasia
ORPHA:899	POMT2	29954	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	POMT2	29954	HP:0012400	Abnormal aldolase level
ORPHA:899	POMT2	29954	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	POMT2	29954	HP:0008736	Hypoplasia of penis
ORPHA:899	POMT2	29954	HP:0007227	Macrogyria
ORPHA:899	POMT2	29954	HP:0000528	Anophthalmia
ORPHA:899	POMT2	29954	HP:0001305	Dandy-Walker malformation
ORPHA:899	POMT2	29954	HP:0001252	Muscular hypotonia
ORPHA:899	POMT2	29954	HP:0002126	Polymicrogyria
ORPHA:899	POMT2	29954	HP:0000648	Optic atrophy
ORPHA:899	POMT2	29954	HP:0000541	Retinal detachment
ORPHA:899	POMT2	29954	HP:0001249	Intellectual disability
ORPHA:899	POMT2	29954	HP:0010508	Metatarsus valgus
ORPHA:899	POMT2	29954	HP:0001274	Agenesis of corpus callosum
ORPHA:899	COL4A1	1282	HP:0001263	Global developmental delay
ORPHA:899	COL4A1	1282	HP:0001331	Absent septum pellucidum
ORPHA:899	COL4A1	1282	HP:0000556	Retinal dystrophy
ORPHA:899	COL4A1	1282	HP:0007731	Chorioretinal dysplasia
ORPHA:899	COL4A1	1282	HP:0007957	Corneal opacity
ORPHA:899	COL4A1	1282	HP:0000501	Glaucoma
ORPHA:899	COL4A1	1282	HP:0001265	Hyporeflexia
ORPHA:899	COL4A1	1282	HP:0000028	Cryptorchidism
ORPHA:899	COL4A1	1282	HP:0001324	Muscle weakness
ORPHA:899	COL4A1	1282	HP:0000238	Hydrocephalus
ORPHA:899	COL4A1	1282	HP:0001328	Specific learning disability
ORPHA:899	COL4A1	1282	HP:0003202	Skeletal muscle atrophy
ORPHA:899	COL4A1	1282	HP:0001302	Pachygyria
ORPHA:899	COL4A1	1282	HP:0003560	Muscular dystrophy
ORPHA:899	COL4A1	1282	HP:0001284	Areflexia
ORPHA:899	COL4A1	1282	HP:0007973	Retinal dysplasia
ORPHA:899	COL4A1	1282	HP:0000256	Macrocephaly
ORPHA:899	COL4A1	1282	HP:0000568	Microphthalmia
ORPHA:899	COL4A1	1282	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	COL4A1	1282	HP:0001339	Lissencephaly
ORPHA:899	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
ORPHA:899	COL4A1	1282	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	COL4A1	1282	HP:0012400	Abnormal aldolase level
ORPHA:899	COL4A1	1282	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	COL4A1	1282	HP:0008736	Hypoplasia of penis
ORPHA:899	COL4A1	1282	HP:0007227	Macrogyria
ORPHA:899	COL4A1	1282	HP:0000528	Anophthalmia
ORPHA:899	COL4A1	1282	HP:0001305	Dandy-Walker malformation
ORPHA:899	COL4A1	1282	HP:0001252	Muscular hypotonia
ORPHA:899	COL4A1	1282	HP:0002126	Polymicrogyria
ORPHA:899	COL4A1	1282	HP:0000648	Optic atrophy
ORPHA:899	COL4A1	1282	HP:0000541	Retinal detachment
ORPHA:899	COL4A1	1282	HP:0001249	Intellectual disability
ORPHA:899	COL4A1	1282	HP:0010508	Metatarsus valgus
ORPHA:899	COL4A1	1282	HP:0001274	Agenesis of corpus callosum
ORPHA:899	POMK	84197	HP:0001263	Global developmental delay
ORPHA:899	POMK	84197	HP:0001331	Absent septum pellucidum
ORPHA:899	POMK	84197	HP:0000556	Retinal dystrophy
ORPHA:899	POMK	84197	HP:0007731	Chorioretinal dysplasia
ORPHA:899	POMK	84197	HP:0007957	Corneal opacity
ORPHA:899	POMK	84197	HP:0000501	Glaucoma
ORPHA:899	POMK	84197	HP:0001265	Hyporeflexia
ORPHA:899	POMK	84197	HP:0000028	Cryptorchidism
ORPHA:899	POMK	84197	HP:0001324	Muscle weakness
ORPHA:899	POMK	84197	HP:0000238	Hydrocephalus
ORPHA:899	POMK	84197	HP:0001328	Specific learning disability
ORPHA:899	POMK	84197	HP:0003202	Skeletal muscle atrophy
ORPHA:899	POMK	84197	HP:0001302	Pachygyria
ORPHA:899	POMK	84197	HP:0003560	Muscular dystrophy
ORPHA:899	POMK	84197	HP:0001284	Areflexia
ORPHA:899	POMK	84197	HP:0007973	Retinal dysplasia
ORPHA:899	POMK	84197	HP:0000256	Macrocephaly
ORPHA:899	POMK	84197	HP:0000568	Microphthalmia
ORPHA:899	POMK	84197	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	POMK	84197	HP:0001339	Lissencephaly
ORPHA:899	POMK	84197	HP:0001321	Cerebellar hypoplasia
ORPHA:899	POMK	84197	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	POMK	84197	HP:0012400	Abnormal aldolase level
ORPHA:899	POMK	84197	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	POMK	84197	HP:0008736	Hypoplasia of penis
ORPHA:899	POMK	84197	HP:0007227	Macrogyria
ORPHA:899	POMK	84197	HP:0000528	Anophthalmia
ORPHA:899	POMK	84197	HP:0001305	Dandy-Walker malformation
ORPHA:899	POMK	84197	HP:0001252	Muscular hypotonia
ORPHA:899	POMK	84197	HP:0002126	Polymicrogyria
ORPHA:899	POMK	84197	HP:0000648	Optic atrophy
ORPHA:899	POMK	84197	HP:0000541	Retinal detachment
ORPHA:899	POMK	84197	HP:0001249	Intellectual disability
ORPHA:899	POMK	84197	HP:0010508	Metatarsus valgus
ORPHA:899	POMK	84197	HP:0001274	Agenesis of corpus callosum
ORPHA:899	DAG1	1605	HP:0001263	Global developmental delay
ORPHA:899	DAG1	1605	HP:0001331	Absent septum pellucidum
ORPHA:899	DAG1	1605	HP:0000556	Retinal dystrophy
ORPHA:899	DAG1	1605	HP:0007731	Chorioretinal dysplasia
ORPHA:899	DAG1	1605	HP:0007957	Corneal opacity
ORPHA:899	DAG1	1605	HP:0000501	Glaucoma
ORPHA:899	DAG1	1605	HP:0001265	Hyporeflexia
ORPHA:899	DAG1	1605	HP:0000028	Cryptorchidism
ORPHA:899	DAG1	1605	HP:0001324	Muscle weakness
ORPHA:899	DAG1	1605	HP:0000238	Hydrocephalus
ORPHA:899	DAG1	1605	HP:0001328	Specific learning disability
ORPHA:899	DAG1	1605	HP:0003202	Skeletal muscle atrophy
ORPHA:899	DAG1	1605	HP:0001302	Pachygyria
ORPHA:899	DAG1	1605	HP:0003560	Muscular dystrophy
ORPHA:899	DAG1	1605	HP:0001284	Areflexia
ORPHA:899	DAG1	1605	HP:0007973	Retinal dysplasia
ORPHA:899	DAG1	1605	HP:0000256	Macrocephaly
ORPHA:899	DAG1	1605	HP:0000568	Microphthalmia
ORPHA:899	DAG1	1605	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	DAG1	1605	HP:0001339	Lissencephaly
ORPHA:899	DAG1	1605	HP:0001321	Cerebellar hypoplasia
ORPHA:899	DAG1	1605	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	DAG1	1605	HP:0012400	Abnormal aldolase level
ORPHA:899	DAG1	1605	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	DAG1	1605	HP:0008736	Hypoplasia of penis
ORPHA:899	DAG1	1605	HP:0007227	Macrogyria
ORPHA:899	DAG1	1605	HP:0000528	Anophthalmia
ORPHA:899	DAG1	1605	HP:0001305	Dandy-Walker malformation
ORPHA:899	DAG1	1605	HP:0001252	Muscular hypotonia
ORPHA:899	DAG1	1605	HP:0002126	Polymicrogyria
ORPHA:899	DAG1	1605	HP:0000648	Optic atrophy
ORPHA:899	DAG1	1605	HP:0000541	Retinal detachment
ORPHA:899	DAG1	1605	HP:0001249	Intellectual disability
ORPHA:899	DAG1	1605	HP:0010508	Metatarsus valgus
ORPHA:899	DAG1	1605	HP:0001274	Agenesis of corpus callosum
ORPHA:899	POMGNT1	55624	HP:0001263	Global developmental delay
ORPHA:899	POMGNT1	55624	HP:0001331	Absent septum pellucidum
ORPHA:899	POMGNT1	55624	HP:0000556	Retinal dystrophy
ORPHA:899	POMGNT1	55624	HP:0007731	Chorioretinal dysplasia
ORPHA:899	POMGNT1	55624	HP:0007957	Corneal opacity
ORPHA:899	POMGNT1	55624	HP:0000501	Glaucoma
ORPHA:899	POMGNT1	55624	HP:0001265	Hyporeflexia
ORPHA:899	POMGNT1	55624	HP:0000028	Cryptorchidism
ORPHA:899	POMGNT1	55624	HP:0001324	Muscle weakness
ORPHA:899	POMGNT1	55624	HP:0000238	Hydrocephalus
ORPHA:899	POMGNT1	55624	HP:0001328	Specific learning disability
ORPHA:899	POMGNT1	55624	HP:0003202	Skeletal muscle atrophy
ORPHA:899	POMGNT1	55624	HP:0001302	Pachygyria
ORPHA:899	POMGNT1	55624	HP:0003560	Muscular dystrophy
ORPHA:899	POMGNT1	55624	HP:0001284	Areflexia
ORPHA:899	POMGNT1	55624	HP:0007973	Retinal dysplasia
ORPHA:899	POMGNT1	55624	HP:0000256	Macrocephaly
ORPHA:899	POMGNT1	55624	HP:0000568	Microphthalmia
ORPHA:899	POMGNT1	55624	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	POMGNT1	55624	HP:0001339	Lissencephaly
ORPHA:899	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
ORPHA:899	POMGNT1	55624	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	POMGNT1	55624	HP:0012400	Abnormal aldolase level
ORPHA:899	POMGNT1	55624	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	POMGNT1	55624	HP:0008736	Hypoplasia of penis
ORPHA:899	POMGNT1	55624	HP:0007227	Macrogyria
ORPHA:899	POMGNT1	55624	HP:0000528	Anophthalmia
ORPHA:899	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
ORPHA:899	POMGNT1	55624	HP:0001252	Muscular hypotonia
ORPHA:899	POMGNT1	55624	HP:0002126	Polymicrogyria
ORPHA:899	POMGNT1	55624	HP:0000648	Optic atrophy
ORPHA:899	POMGNT1	55624	HP:0000541	Retinal detachment
ORPHA:899	POMGNT1	55624	HP:0001249	Intellectual disability
ORPHA:899	POMGNT1	55624	HP:0010508	Metatarsus valgus
ORPHA:899	POMGNT1	55624	HP:0001274	Agenesis of corpus callosum
ORPHA:899	FKTN	2218	HP:0001263	Global developmental delay
ORPHA:899	FKTN	2218	HP:0001331	Absent septum pellucidum
ORPHA:899	FKTN	2218	HP:0000556	Retinal dystrophy
ORPHA:899	FKTN	2218	HP:0007731	Chorioretinal dysplasia
ORPHA:899	FKTN	2218	HP:0007957	Corneal opacity
ORPHA:899	FKTN	2218	HP:0000501	Glaucoma
ORPHA:899	FKTN	2218	HP:0001265	Hyporeflexia
ORPHA:899	FKTN	2218	HP:0000028	Cryptorchidism
ORPHA:899	FKTN	2218	HP:0001324	Muscle weakness
ORPHA:899	FKTN	2218	HP:0000238	Hydrocephalus
ORPHA:899	FKTN	2218	HP:0001328	Specific learning disability
ORPHA:899	FKTN	2218	HP:0003202	Skeletal muscle atrophy
ORPHA:899	FKTN	2218	HP:0001302	Pachygyria
ORPHA:899	FKTN	2218	HP:0003560	Muscular dystrophy
ORPHA:899	FKTN	2218	HP:0001284	Areflexia
ORPHA:899	FKTN	2218	HP:0007973	Retinal dysplasia
ORPHA:899	FKTN	2218	HP:0000256	Macrocephaly
ORPHA:899	FKTN	2218	HP:0000568	Microphthalmia
ORPHA:899	FKTN	2218	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	FKTN	2218	HP:0001339	Lissencephaly
ORPHA:899	FKTN	2218	HP:0001321	Cerebellar hypoplasia
ORPHA:899	FKTN	2218	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	FKTN	2218	HP:0012400	Abnormal aldolase level
ORPHA:899	FKTN	2218	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	FKTN	2218	HP:0008736	Hypoplasia of penis
ORPHA:899	FKTN	2218	HP:0007227	Macrogyria
ORPHA:899	FKTN	2218	HP:0000528	Anophthalmia
ORPHA:899	FKTN	2218	HP:0001305	Dandy-Walker malformation
ORPHA:899	FKTN	2218	HP:0001252	Muscular hypotonia
ORPHA:899	FKTN	2218	HP:0002126	Polymicrogyria
ORPHA:899	FKTN	2218	HP:0000648	Optic atrophy
ORPHA:899	FKTN	2218	HP:0000541	Retinal detachment
ORPHA:899	FKTN	2218	HP:0001249	Intellectual disability
ORPHA:899	FKTN	2218	HP:0010508	Metatarsus valgus
ORPHA:899	FKTN	2218	HP:0001274	Agenesis of corpus callosum
ORPHA:899	FKRP	79147	HP:0001263	Global developmental delay
ORPHA:899	FKRP	79147	HP:0001331	Absent septum pellucidum
ORPHA:899	FKRP	79147	HP:0000556	Retinal dystrophy
ORPHA:899	FKRP	79147	HP:0007731	Chorioretinal dysplasia
ORPHA:899	FKRP	79147	HP:0007957	Corneal opacity
ORPHA:899	FKRP	79147	HP:0000501	Glaucoma
ORPHA:899	FKRP	79147	HP:0001265	Hyporeflexia
ORPHA:899	FKRP	79147	HP:0000028	Cryptorchidism
ORPHA:899	FKRP	79147	HP:0001324	Muscle weakness
ORPHA:899	FKRP	79147	HP:0000238	Hydrocephalus
ORPHA:899	FKRP	79147	HP:0001328	Specific learning disability
ORPHA:899	FKRP	79147	HP:0003202	Skeletal muscle atrophy
ORPHA:899	FKRP	79147	HP:0001302	Pachygyria
ORPHA:899	FKRP	79147	HP:0003560	Muscular dystrophy
ORPHA:899	FKRP	79147	HP:0001284	Areflexia
ORPHA:899	FKRP	79147	HP:0007973	Retinal dysplasia
ORPHA:899	FKRP	79147	HP:0000256	Macrocephaly
ORPHA:899	FKRP	79147	HP:0000568	Microphthalmia
ORPHA:899	FKRP	79147	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	FKRP	79147	HP:0001339	Lissencephaly
ORPHA:899	FKRP	79147	HP:0001321	Cerebellar hypoplasia
ORPHA:899	FKRP	79147	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	FKRP	79147	HP:0012400	Abnormal aldolase level
ORPHA:899	FKRP	79147	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	FKRP	79147	HP:0008736	Hypoplasia of penis
ORPHA:899	FKRP	79147	HP:0007227	Macrogyria
ORPHA:899	FKRP	79147	HP:0000528	Anophthalmia
ORPHA:899	FKRP	79147	HP:0001305	Dandy-Walker malformation
ORPHA:899	FKRP	79147	HP:0001252	Muscular hypotonia
ORPHA:899	FKRP	79147	HP:0002126	Polymicrogyria
ORPHA:899	FKRP	79147	HP:0000648	Optic atrophy
ORPHA:899	FKRP	79147	HP:0000541	Retinal detachment
ORPHA:899	FKRP	79147	HP:0001249	Intellectual disability
ORPHA:899	FKRP	79147	HP:0010508	Metatarsus valgus
ORPHA:899	FKRP	79147	HP:0001274	Agenesis of corpus callosum
ORPHA:899	ISPD	729920	HP:0001263	Global developmental delay
ORPHA:899	ISPD	729920	HP:0001331	Absent septum pellucidum
ORPHA:899	ISPD	729920	HP:0000556	Retinal dystrophy
ORPHA:899	ISPD	729920	HP:0007731	Chorioretinal dysplasia
ORPHA:899	ISPD	729920	HP:0007957	Corneal opacity
ORPHA:899	ISPD	729920	HP:0000501	Glaucoma
ORPHA:899	ISPD	729920	HP:0001265	Hyporeflexia
ORPHA:899	ISPD	729920	HP:0000028	Cryptorchidism
ORPHA:899	ISPD	729920	HP:0001324	Muscle weakness
ORPHA:899	ISPD	729920	HP:0000238	Hydrocephalus
ORPHA:899	ISPD	729920	HP:0001328	Specific learning disability
ORPHA:899	ISPD	729920	HP:0003202	Skeletal muscle atrophy
ORPHA:899	ISPD	729920	HP:0001302	Pachygyria
ORPHA:899	ISPD	729920	HP:0003560	Muscular dystrophy
ORPHA:899	ISPD	729920	HP:0001284	Areflexia
ORPHA:899	ISPD	729920	HP:0007973	Retinal dysplasia
ORPHA:899	ISPD	729920	HP:0000256	Macrocephaly
ORPHA:899	ISPD	729920	HP:0000568	Microphthalmia
ORPHA:899	ISPD	729920	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	ISPD	729920	HP:0001339	Lissencephaly
ORPHA:899	ISPD	729920	HP:0001321	Cerebellar hypoplasia
ORPHA:899	ISPD	729920	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	ISPD	729920	HP:0012400	Abnormal aldolase level
ORPHA:899	ISPD	729920	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	ISPD	729920	HP:0008736	Hypoplasia of penis
ORPHA:899	ISPD	729920	HP:0007227	Macrogyria
ORPHA:899	ISPD	729920	HP:0000528	Anophthalmia
ORPHA:899	ISPD	729920	HP:0001305	Dandy-Walker malformation
ORPHA:899	ISPD	729920	HP:0001252	Muscular hypotonia
ORPHA:899	ISPD	729920	HP:0002126	Polymicrogyria
ORPHA:899	ISPD	729920	HP:0000648	Optic atrophy
ORPHA:899	ISPD	729920	HP:0000541	Retinal detachment
ORPHA:899	ISPD	729920	HP:0001249	Intellectual disability
ORPHA:899	ISPD	729920	HP:0010508	Metatarsus valgus
ORPHA:899	ISPD	729920	HP:0001274	Agenesis of corpus callosum
ORPHA:899	B3GALNT2	148789	HP:0001263	Global developmental delay
ORPHA:899	B3GALNT2	148789	HP:0001331	Absent septum pellucidum
ORPHA:899	B3GALNT2	148789	HP:0000556	Retinal dystrophy
ORPHA:899	B3GALNT2	148789	HP:0007731	Chorioretinal dysplasia
ORPHA:899	B3GALNT2	148789	HP:0007957	Corneal opacity
ORPHA:899	B3GALNT2	148789	HP:0000501	Glaucoma
ORPHA:899	B3GALNT2	148789	HP:0001265	Hyporeflexia
ORPHA:899	B3GALNT2	148789	HP:0000028	Cryptorchidism
ORPHA:899	B3GALNT2	148789	HP:0001324	Muscle weakness
ORPHA:899	B3GALNT2	148789	HP:0000238	Hydrocephalus
ORPHA:899	B3GALNT2	148789	HP:0001328	Specific learning disability
ORPHA:899	B3GALNT2	148789	HP:0003202	Skeletal muscle atrophy
ORPHA:899	B3GALNT2	148789	HP:0001302	Pachygyria
ORPHA:899	B3GALNT2	148789	HP:0003560	Muscular dystrophy
ORPHA:899	B3GALNT2	148789	HP:0001284	Areflexia
ORPHA:899	B3GALNT2	148789	HP:0007973	Retinal dysplasia
ORPHA:899	B3GALNT2	148789	HP:0000256	Macrocephaly
ORPHA:899	B3GALNT2	148789	HP:0000568	Microphthalmia
ORPHA:899	B3GALNT2	148789	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	B3GALNT2	148789	HP:0001339	Lissencephaly
ORPHA:899	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
ORPHA:899	B3GALNT2	148789	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	B3GALNT2	148789	HP:0012400	Abnormal aldolase level
ORPHA:899	B3GALNT2	148789	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	B3GALNT2	148789	HP:0008736	Hypoplasia of penis
ORPHA:899	B3GALNT2	148789	HP:0007227	Macrogyria
ORPHA:899	B3GALNT2	148789	HP:0000528	Anophthalmia
ORPHA:899	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
ORPHA:899	B3GALNT2	148789	HP:0001252	Muscular hypotonia
ORPHA:899	B3GALNT2	148789	HP:0002126	Polymicrogyria
ORPHA:899	B3GALNT2	148789	HP:0000648	Optic atrophy
ORPHA:899	B3GALNT2	148789	HP:0000541	Retinal detachment
ORPHA:899	B3GALNT2	148789	HP:0001249	Intellectual disability
ORPHA:899	B3GALNT2	148789	HP:0010508	Metatarsus valgus
ORPHA:899	B3GALNT2	148789	HP:0001274	Agenesis of corpus callosum
ORPHA:899	POMT1	10585	HP:0001263	Global developmental delay
ORPHA:899	POMT1	10585	HP:0001331	Absent septum pellucidum
ORPHA:899	POMT1	10585	HP:0000556	Retinal dystrophy
ORPHA:899	POMT1	10585	HP:0007731	Chorioretinal dysplasia
ORPHA:899	POMT1	10585	HP:0007957	Corneal opacity
ORPHA:899	POMT1	10585	HP:0000501	Glaucoma
ORPHA:899	POMT1	10585	HP:0001265	Hyporeflexia
ORPHA:899	POMT1	10585	HP:0000028	Cryptorchidism
ORPHA:899	POMT1	10585	HP:0001324	Muscle weakness
ORPHA:899	POMT1	10585	HP:0000238	Hydrocephalus
ORPHA:899	POMT1	10585	HP:0001328	Specific learning disability
ORPHA:899	POMT1	10585	HP:0003202	Skeletal muscle atrophy
ORPHA:899	POMT1	10585	HP:0001302	Pachygyria
ORPHA:899	POMT1	10585	HP:0003560	Muscular dystrophy
ORPHA:899	POMT1	10585	HP:0001284	Areflexia
ORPHA:899	POMT1	10585	HP:0007973	Retinal dysplasia
ORPHA:899	POMT1	10585	HP:0000256	Macrocephaly
ORPHA:899	POMT1	10585	HP:0000568	Microphthalmia
ORPHA:899	POMT1	10585	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	POMT1	10585	HP:0001339	Lissencephaly
ORPHA:899	POMT1	10585	HP:0001321	Cerebellar hypoplasia
ORPHA:899	POMT1	10585	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	POMT1	10585	HP:0012400	Abnormal aldolase level
ORPHA:899	POMT1	10585	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	POMT1	10585	HP:0008736	Hypoplasia of penis
ORPHA:899	POMT1	10585	HP:0007227	Macrogyria
ORPHA:899	POMT1	10585	HP:0000528	Anophthalmia
ORPHA:899	POMT1	10585	HP:0001305	Dandy-Walker malformation
ORPHA:899	POMT1	10585	HP:0001252	Muscular hypotonia
ORPHA:899	POMT1	10585	HP:0002126	Polymicrogyria
ORPHA:899	POMT1	10585	HP:0000648	Optic atrophy
ORPHA:899	POMT1	10585	HP:0000541	Retinal detachment
ORPHA:899	POMT1	10585	HP:0001249	Intellectual disability
ORPHA:899	POMT1	10585	HP:0010508	Metatarsus valgus
ORPHA:899	POMT1	10585	HP:0001274	Agenesis of corpus callosum
ORPHA:899	TMEM5	10329	HP:0001263	Global developmental delay
ORPHA:899	TMEM5	10329	HP:0001331	Absent septum pellucidum
ORPHA:899	TMEM5	10329	HP:0000556	Retinal dystrophy
ORPHA:899	TMEM5	10329	HP:0007731	Chorioretinal dysplasia
ORPHA:899	TMEM5	10329	HP:0007957	Corneal opacity
ORPHA:899	TMEM5	10329	HP:0000501	Glaucoma
ORPHA:899	TMEM5	10329	HP:0001265	Hyporeflexia
ORPHA:899	TMEM5	10329	HP:0000028	Cryptorchidism
ORPHA:899	TMEM5	10329	HP:0001324	Muscle weakness
ORPHA:899	TMEM5	10329	HP:0000238	Hydrocephalus
ORPHA:899	TMEM5	10329	HP:0001328	Specific learning disability
ORPHA:899	TMEM5	10329	HP:0003202	Skeletal muscle atrophy
ORPHA:899	TMEM5	10329	HP:0001302	Pachygyria
ORPHA:899	TMEM5	10329	HP:0003560	Muscular dystrophy
ORPHA:899	TMEM5	10329	HP:0001284	Areflexia
ORPHA:899	TMEM5	10329	HP:0007973	Retinal dysplasia
ORPHA:899	TMEM5	10329	HP:0000256	Macrocephaly
ORPHA:899	TMEM5	10329	HP:0000568	Microphthalmia
ORPHA:899	TMEM5	10329	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	TMEM5	10329	HP:0001339	Lissencephaly
ORPHA:899	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
ORPHA:899	TMEM5	10329	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	TMEM5	10329	HP:0012400	Abnormal aldolase level
ORPHA:899	TMEM5	10329	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	TMEM5	10329	HP:0008736	Hypoplasia of penis
ORPHA:899	TMEM5	10329	HP:0007227	Macrogyria
ORPHA:899	TMEM5	10329	HP:0000528	Anophthalmia
ORPHA:899	TMEM5	10329	HP:0001305	Dandy-Walker malformation
ORPHA:899	TMEM5	10329	HP:0001252	Muscular hypotonia
ORPHA:899	TMEM5	10329	HP:0002126	Polymicrogyria
ORPHA:899	TMEM5	10329	HP:0000648	Optic atrophy
ORPHA:899	TMEM5	10329	HP:0000541	Retinal detachment
ORPHA:899	TMEM5	10329	HP:0001249	Intellectual disability
ORPHA:899	TMEM5	10329	HP:0010508	Metatarsus valgus
ORPHA:899	TMEM5	10329	HP:0001274	Agenesis of corpus callosum
ORPHA:899	POMGNT2	84892	HP:0001263	Global developmental delay
ORPHA:899	POMGNT2	84892	HP:0001331	Absent septum pellucidum
ORPHA:899	POMGNT2	84892	HP:0000556	Retinal dystrophy
ORPHA:899	POMGNT2	84892	HP:0007731	Chorioretinal dysplasia
ORPHA:899	POMGNT2	84892	HP:0007957	Corneal opacity
ORPHA:899	POMGNT2	84892	HP:0000501	Glaucoma
ORPHA:899	POMGNT2	84892	HP:0001265	Hyporeflexia
ORPHA:899	POMGNT2	84892	HP:0000028	Cryptorchidism
ORPHA:899	POMGNT2	84892	HP:0001324	Muscle weakness
ORPHA:899	POMGNT2	84892	HP:0000238	Hydrocephalus
ORPHA:899	POMGNT2	84892	HP:0001328	Specific learning disability
ORPHA:899	POMGNT2	84892	HP:0003202	Skeletal muscle atrophy
ORPHA:899	POMGNT2	84892	HP:0001302	Pachygyria
ORPHA:899	POMGNT2	84892	HP:0003560	Muscular dystrophy
ORPHA:899	POMGNT2	84892	HP:0001284	Areflexia
ORPHA:899	POMGNT2	84892	HP:0007973	Retinal dysplasia
ORPHA:899	POMGNT2	84892	HP:0000256	Macrocephaly
ORPHA:899	POMGNT2	84892	HP:0000568	Microphthalmia
ORPHA:899	POMGNT2	84892	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	POMGNT2	84892	HP:0001339	Lissencephaly
ORPHA:899	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
ORPHA:899	POMGNT2	84892	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	POMGNT2	84892	HP:0012400	Abnormal aldolase level
ORPHA:899	POMGNT2	84892	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	POMGNT2	84892	HP:0008736	Hypoplasia of penis
ORPHA:899	POMGNT2	84892	HP:0007227	Macrogyria
ORPHA:899	POMGNT2	84892	HP:0000528	Anophthalmia
ORPHA:899	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
ORPHA:899	POMGNT2	84892	HP:0001252	Muscular hypotonia
ORPHA:899	POMGNT2	84892	HP:0002126	Polymicrogyria
ORPHA:899	POMGNT2	84892	HP:0000648	Optic atrophy
ORPHA:899	POMGNT2	84892	HP:0000541	Retinal detachment
ORPHA:899	POMGNT2	84892	HP:0001249	Intellectual disability
ORPHA:899	POMGNT2	84892	HP:0010508	Metatarsus valgus
ORPHA:899	POMGNT2	84892	HP:0001274	Agenesis of corpus callosum
ORPHA:899	LARGE1	9215	HP:0001263	Global developmental delay
ORPHA:899	LARGE1	9215	HP:0001331	Absent septum pellucidum
ORPHA:899	LARGE1	9215	HP:0000556	Retinal dystrophy
ORPHA:899	LARGE1	9215	HP:0007731	Chorioretinal dysplasia
ORPHA:899	LARGE1	9215	HP:0007957	Corneal opacity
ORPHA:899	LARGE1	9215	HP:0000501	Glaucoma
ORPHA:899	LARGE1	9215	HP:0001265	Hyporeflexia
ORPHA:899	LARGE1	9215	HP:0000028	Cryptorchidism
ORPHA:899	LARGE1	9215	HP:0001324	Muscle weakness
ORPHA:899	LARGE1	9215	HP:0000238	Hydrocephalus
ORPHA:899	LARGE1	9215	HP:0001328	Specific learning disability
ORPHA:899	LARGE1	9215	HP:0003202	Skeletal muscle atrophy
ORPHA:899	LARGE1	9215	HP:0001302	Pachygyria
ORPHA:899	LARGE1	9215	HP:0003560	Muscular dystrophy
ORPHA:899	LARGE1	9215	HP:0001284	Areflexia
ORPHA:899	LARGE1	9215	HP:0007973	Retinal dysplasia
ORPHA:899	LARGE1	9215	HP:0000256	Macrocephaly
ORPHA:899	LARGE1	9215	HP:0000568	Microphthalmia
ORPHA:899	LARGE1	9215	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	LARGE1	9215	HP:0001339	Lissencephaly
ORPHA:899	LARGE1	9215	HP:0001321	Cerebellar hypoplasia
ORPHA:899	LARGE1	9215	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	LARGE1	9215	HP:0012400	Abnormal aldolase level
ORPHA:899	LARGE1	9215	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	LARGE1	9215	HP:0008736	Hypoplasia of penis
ORPHA:899	LARGE1	9215	HP:0007227	Macrogyria
ORPHA:899	LARGE1	9215	HP:0000528	Anophthalmia
ORPHA:899	LARGE1	9215	HP:0001305	Dandy-Walker malformation
ORPHA:899	LARGE1	9215	HP:0001252	Muscular hypotonia
ORPHA:899	LARGE1	9215	HP:0002126	Polymicrogyria
ORPHA:899	LARGE1	9215	HP:0000648	Optic atrophy
ORPHA:899	LARGE1	9215	HP:0000541	Retinal detachment
ORPHA:899	LARGE1	9215	HP:0001249	Intellectual disability
ORPHA:899	LARGE1	9215	HP:0010508	Metatarsus valgus
ORPHA:899	LARGE1	9215	HP:0001274	Agenesis of corpus callosum
OMIM:613877	PLIN1	5346	HP:0000006	Autosomal dominant inheritance
OMIM:613877	PLIN1	5346	HP:0000819	Diabetes mellitus
OMIM:613877	PLIN1	5346	HP:0100578	Lipoatrophy
OMIM:613877	PLIN1	5346	HP:0001397	Hepatic steatosis
OMIM:613877	PLIN1	5346	HP:0000956	Acanthosis nigricans
OMIM:613877	PLIN1	5346	HP:0003712	Skeletal muscle hypertrophy
OMIM:613877	PLIN1	5346	HP:0000876	Oligomenorrhea
OMIM:613877	PLIN1	5346	HP:0000822	Hypertension
OMIM:613877	PLIN1	5346	HP:0002155	Hypertriglyceridemia
OMIM:167200	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:167200	KRT16	3868	HP:0002745	Oral leukoplakia
OMIM:167200	KRT16	3868	HP:0000972	Palmoplantar hyperkeratosis
OMIM:167200	KRT16	3868	HP:0001425	Heterogeneous
OMIM:167200	KRT16	3868	HP:0001805	Thick nail
OMIM:167200	KRT16	3868	HP:0007502	Follicular hyperkeratosis
OMIM:616113	DMXL2	23312	HP:0001730	Progressive hearing impairment
OMIM:616113	DMXL2	23312	HP:0001270	Motor delay
OMIM:616113	DMXL2	23312	HP:0001332	Dystonia
OMIM:616113	DMXL2	23312	HP:0008897	Postnatal growth retardation
OMIM:616113	DMXL2	23312	HP:0004322	Short stature
OMIM:616113	DMXL2	23312	HP:0001251	Ataxia
OMIM:616113	DMXL2	23312	HP:0001249	Intellectual disability
OMIM:616113	DMXL2	23312	HP:0001260	Dysarthria
OMIM:616113	DMXL2	23312	HP:0011787	Central hypothyroidism
OMIM:616113	DMXL2	23312	HP:0000007	Autosomal recessive inheritance
OMIM:616113	DMXL2	23312	HP:0002342	Intellectual disability, moderate
ORPHA:79455	KIT	3815	HP:0000989	Pruritus
ORPHA:79455	KIT	3815	HP:0001025	Urticaria
ORPHA:79455	KIT	3815	HP:0200151	Cutaneous mastocytosis
ORPHA:79455	KIT	3815	HP:0001072	Thickened skin
ORPHA:79455	KIT	3815	HP:0001482	Subcutaneous nodule
OMIM:610498	MRPS16	51021	HP:0000969	Edema
OMIM:610498	MRPS16	51021	HP:0002151	Increased serum lactate
OMIM:610498	MRPS16	51021	HP:0002910	Elevated hepatic transaminases
OMIM:610498	MRPS16	51021	HP:0001518	Small for gestational age
OMIM:610498	MRPS16	51021	HP:0002375	Hypokinesia
OMIM:610498	MRPS16	51021	HP:0003577	Congenital onset
OMIM:610498	MRPS16	51021	HP:0008872	Feeding difficulties in infancy
OMIM:610498	MRPS16	51021	HP:0001643	Patent ductus arteriosus
OMIM:610498	MRPS16	51021	HP:0000007	Autosomal recessive inheritance
OMIM:610498	MRPS16	51021	HP:0001254	Lethargy
OMIM:610498	MRPS16	51021	HP:0001999	Abnormal facial shape
OMIM:610498	MRPS16	51021	HP:0001274	Agenesis of corpus callosum
OMIM:610498	MRPS16	51021	HP:0002119	Ventriculomegaly
OMIM:610498	MRPS16	51021	HP:0001156	Brachydactyly
OMIM:610498	MRPS16	51021	HP:0001425	Heterogeneous
OMIM:610498	MRPS16	51021	HP:0005989	Redundant neck skin
OMIM:610498	MRPS16	51021	HP:0000369	Low-set ears
OMIM:610498	MRPS16	51021	HP:0001319	Neonatal hypotonia
OMIM:610498	MRPS16	51021	HP:0003128	Lactic acidosis
OMIM:610539	PSAP	5660	HP:0001903	Anemia
OMIM:610539	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:610539	PSAP	5660	HP:0001250	Seizures
OMIM:610539	PSAP	5660	HP:0001433	Hepatosplenomegaly
OMIM:610539	PSAP	5660	HP:0001336	Myoclonus
OMIM:610539	PSAP	5660	HP:0001873	Thrombocytopenia
OMIM:610539	PSAP	5660	HP:0004975	Erlenmeyer flask deformity of the femurs
OMIM:610539	PSAP	5660	HP:0000938	Osteopenia
OMIM:610539	PSAP	5660	HP:0011813	Increased cerebral lipofuscin
ORPHA:34527	CNNM2	54805	HP:0002321	Vertigo
ORPHA:34527	CNNM2	54805	HP:0002342	Intellectual disability, moderate
ORPHA:34527	CNNM2	54805	HP:0012608	Hypermagnesiuria
ORPHA:34527	CNNM2	54805	HP:0002465	Poor speech
ORPHA:34527	CNNM2	54805	HP:0002917	Hypomagnesemia
ORPHA:34527	CNNM2	54805	HP:0002315	Headache
ORPHA:34527	CNNM2	54805	HP:0011343	Moderate global developmental delay
ORPHA:34527	CNNM2	54805	HP:0001250	Seizures
ORPHA:34527	CNNM2	54805	HP:0003324	Generalized muscle weakness
ORPHA:34527	CNNM2	54805	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:34527	CNNM2	54805	HP:0001513	Obesity
ORPHA:34527	EGF	1950	HP:0002321	Vertigo
ORPHA:34527	EGF	1950	HP:0002342	Intellectual disability, moderate
ORPHA:34527	EGF	1950	HP:0012608	Hypermagnesiuria
ORPHA:34527	EGF	1950	HP:0002465	Poor speech
ORPHA:34527	EGF	1950	HP:0002917	Hypomagnesemia
ORPHA:34527	EGF	1950	HP:0002315	Headache
ORPHA:34527	EGF	1950	HP:0011343	Moderate global developmental delay
ORPHA:34527	EGF	1950	HP:0001250	Seizures
ORPHA:34527	EGF	1950	HP:0003324	Generalized muscle weakness
ORPHA:34527	EGF	1950	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:34527	EGF	1950	HP:0001513	Obesity
OMIM:180550	PITX2	5308	HP:0000481	Abnormality of the cornea
OMIM:180550	PITX2	5308	HP:0000502	Abnormality of the conjunctiva
OMIM:180550	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:210370	CYP4V2	285440	HP:0000529	Progressive visual loss
OMIM:210370	CYP4V2	285440	HP:0001133	Constriction of peripheral visual field
OMIM:210370	CYP4V2	285440	HP:0007675	Progressive night blindness
OMIM:210370	CYP4V2	285440	HP:0007880	Marginal corneal dystrophy
OMIM:210370	CYP4V2	285440	HP:0000533	Chorioretinal atrophy
OMIM:210370	CYP4V2	285440	HP:0000546	Retinal degeneration
OMIM:210370	CYP4V2	285440	HP:0000007	Autosomal recessive inheritance
OMIM:210370	CYP4V2	285440	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:125490	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:125490	DSPP	1834	HP:0000703	Dentinogenesis imperfecta
ORPHA:79084	LMNA	4000	HP:0000147	Polycystic ovaries
ORPHA:79084	LMNA	4000	HP:0000822	Hypertension
ORPHA:79084	LMNA	4000	HP:0001397	Hepatic steatosis
ORPHA:79084	LMNA	4000	HP:0000855	Insulin resistance
ORPHA:79084	LMNA	4000	HP:0000842	Hyperinsulinemia
ORPHA:79084	LMNA	4000	HP:0000991	Xanthomatosis
ORPHA:79084	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:79084	LMNA	4000	HP:0000819	Diabetes mellitus
ORPHA:79084	LMNA	4000	HP:0002240	Hepatomegaly
OMIM:616801	UNC80	285175	HP:0000325	Triangular face
OMIM:616801	UNC80	285175	HP:0000938	Osteopenia
OMIM:616801	UNC80	285175	HP:0000248	Brachycephaly
OMIM:616801	UNC80	285175	HP:0000448	Prominent nose
OMIM:616801	UNC80	285175	HP:0002019	Constipation
OMIM:616801	UNC80	285175	HP:0000358	Posteriorly rotated ears
OMIM:616801	UNC80	285175	HP:0000007	Autosomal recessive inheritance
OMIM:616801	UNC80	285175	HP:0000348	High forehead
OMIM:616801	UNC80	285175	HP:0001290	Generalized hypotonia
OMIM:616801	UNC80	285175	HP:0001531	Failure to thrive in infancy
OMIM:616801	UNC80	285175	HP:0011220	Prominent forehead
OMIM:616801	UNC80	285175	HP:0001182	Tapered finger
OMIM:616801	UNC80	285175	HP:0007069	Profound static encephalopathy
OMIM:616801	UNC80	285175	HP:0000286	Epicanthus
OMIM:616801	UNC80	285175	HP:0000508	Ptosis
OMIM:616801	UNC80	285175	HP:0001357	Plagiocephaly
OMIM:616801	UNC80	285175	HP:0000463	Anteverted nares
OMIM:616801	UNC80	285175	HP:0002007	Frontal bossing
OMIM:616801	UNC80	285175	HP:0000219	Thin upper lip vermilion
OMIM:616801	UNC80	285175	HP:0000369	Low-set ears
OMIM:616801	UNC80	285175	HP:0011968	Feeding difficulties
OMIM:616801	UNC80	285175	HP:0000470	Short neck
OMIM:616801	UNC80	285175	HP:0000194	Open mouth
OMIM:616801	UNC80	285175	HP:0000337	Broad forehead
OMIM:616801	UNC80	285175	HP:0001257	Spasticity
OMIM:616801	UNC80	285175	HP:0000319	Smooth philtrum
OMIM:616801	UNC80	285175	HP:0000322	Short philtrum
OMIM:616801	UNC80	285175	HP:0002187	Intellectual disability, profound
OMIM:616801	UNC80	285175	HP:0000639	Nystagmus
OMIM:616801	UNC80	285175	HP:0000426	Prominent nasal bridge
OMIM:616801	UNC80	285175	HP:0000414	Bulbous nose
OMIM:616801	UNC80	285175	HP:0002283	Global brain atrophy
OMIM:616051	CENPE	1062	HP:0009879	Cortical gyral simplification
OMIM:616051	CENPE	1062	HP:0000252	Microcephaly
OMIM:616051	CENPE	1062	HP:0000448	Prominent nose
OMIM:616051	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:616051	CENPE	1062	HP:0001250	Seizures
OMIM:616051	CENPE	1062	HP:0001773	Short foot
OMIM:616051	CENPE	1062	HP:0004322	Short stature
OMIM:616051	CENPE	1062	HP:0001321	Cerebellar hypoplasia
OMIM:616051	CENPE	1062	HP:0000311	Round face
OMIM:616051	CENPE	1062	HP:0004979	Metaphyseal sclerosis
OMIM:616051	CENPE	1062	HP:0000340	Sloping forehead
OMIM:616051	CENPE	1062	HP:0001338	Partial agenesis of the corpus callosum
OMIM:616051	CENPE	1062	HP:0000347	Micrognathia
OMIM:616051	CENPE	1062	HP:0200055	Small hand
OMIM:616051	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:610968	FKBP10	60681	HP:0003155	Elevated alkaline phosphatase
OMIM:610968	FKBP10	60681	HP:0000325	Triangular face
OMIM:610968	FKBP10	60681	HP:0008422	Vertebral wedging
OMIM:610968	FKBP10	60681	HP:0000006	Autosomal dominant inheritance
OMIM:610968	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:610968	FKBP10	60681	HP:0000703	Dentinogenesis imperfecta
OMIM:610968	FKBP10	60681	HP:0000938	Osteopenia
OMIM:610968	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:610968	FKBP10	60681	HP:0000248	Brachycephaly
OMIM:610968	FKBP10	60681	HP:0003179	Protrusio acetabuli
OMIM:610968	FKBP10	60681	HP:0002953	Vertebral compression fractures
OMIM:610968	FKBP10	60681	HP:0000951	Abnormality of the skin
OMIM:610968	FKBP10	60681	HP:0002751	Kyphoscoliosis
OMIM:610968	FKBP10	60681	HP:0002645	Wormian bones
OMIM:610968	FKBP10	60681	HP:0004322	Short stature
OMIM:610968	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:610968	FKBP10	60681	HP:0004586	Biconcave vertebral bodies
OMIM:610968	FKBP10	60681	HP:0001388	Joint laxity
OMIM:603649	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:603649	RIMS1	22999	HP:0012045	Retinal flecks
OMIM:603649	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RIMS1	22999	HP:0000505	Visual impairment
OMIM:603649	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RIMS1	22999	HP:0011504	Bull's eye maculopathy
OMIM:238600	LPL	4023	HP:0000952	Jaundice
OMIM:238600	LPL	4023	HP:0002018	Nausea
OMIM:238600	LPL	4023	HP:0003124	Hypercholesterolemia
OMIM:238600	LPL	4023	HP:0000007	Autosomal recessive inheritance
OMIM:238600	LPL	4023	HP:0001733	Pancreatitis
OMIM:238600	LPL	4023	HP:0001433	Hepatosplenomegaly
OMIM:238600	LPL	4023	HP:0001013	Eruptive xanthomas
OMIM:238600	LPL	4023	HP:0001744	Splenomegaly
OMIM:238600	LPL	4023	HP:0002013	Vomiting
OMIM:238600	LPL	4023	HP:0012238	Increased circulating chylomicron levels
OMIM:238600	LPL	4023	HP:0002574	Episodic abdominal pain
OMIM:238600	LPL	4023	HP:0031028	Lactescent serum
OMIM:238600	LPL	4023	HP:0000660	Lipemia retinalis
OMIM:611091	NSUN2	54888	HP:0000252	Microcephaly
OMIM:611091	NSUN2	54888	HP:0000322	Short philtrum
OMIM:611091	NSUN2	54888	HP:0000664	Synophrys
OMIM:611091	NSUN2	54888	HP:0008897	Postnatal growth retardation
OMIM:611091	NSUN2	54888	HP:0000319	Smooth philtrum
OMIM:611091	NSUN2	54888	HP:0000486	Strabismus
OMIM:611091	NSUN2	54888	HP:0000448	Prominent nose
OMIM:611091	NSUN2	54888	HP:0001518	Small for gestational age
OMIM:611091	NSUN2	54888	HP:0000574	Thick eyebrow
OMIM:611091	NSUN2	54888	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	NSUN2	54888	HP:0001260	Dysarthria
OMIM:611091	NSUN2	54888	HP:0000430	Underdeveloped nasal alae
OMIM:611091	NSUN2	54888	HP:0004322	Short stature
OMIM:611091	NSUN2	54888	HP:0000275	Narrow face
OMIM:611091	NSUN2	54888	HP:0000331	Short chin
OMIM:611091	NSUN2	54888	HP:0000750	Delayed speech and language development
OMIM:611091	NSUN2	54888	HP:0000601	Hypotelorism
OMIM:611091	NSUN2	54888	HP:0000276	Long face
OMIM:611091	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611091	NSUN2	54888	HP:0000215	Thick upper lip vermilion
OMIM:611091	NSUN2	54888	HP:0001257	Spasticity
OMIM:611091	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:611091	NSUN2	54888	HP:0001347	Hyperreflexia
OMIM:611091	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:615220	WNT1	7471	HP:0002650	Scoliosis
OMIM:615220	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:615220	WNT1	7471	HP:0000592	Blue sclerae
OMIM:615220	WNT1	7471	HP:0000926	Platyspondyly
OMIM:615220	WNT1	7471	HP:0001263	Global developmental delay
OMIM:615220	WNT1	7471	HP:0004322	Short stature
OMIM:615220	WNT1	7471	HP:0012110	Hypoplasia of the pons
OMIM:615220	WNT1	7471	HP:0000883	Thin ribs
OMIM:616629	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:616629	TRAF3IP1	26146	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:616629	TRAF3IP1	26146	HP:0000510	Rod-cone dystrophy
OMIM:616629	TRAF3IP1	26146	HP:0000486	Strabismus
OMIM:616629	TRAF3IP1	26146	HP:0000608	Macular degeneration
OMIM:616629	TRAF3IP1	26146	HP:0000639	Nystagmus
ORPHA:6	MCCC2	64087	HP:0100022	Abnormality of movement
ORPHA:6	MCCC2	64087	HP:0001992	Organic aciduria
ORPHA:6	MCCC2	64087	HP:0001252	Muscular hypotonia
ORPHA:6	MCCC2	64087	HP:0001987	Hyperammonemia
ORPHA:6	MCCC2	64087	HP:0001943	Hypoglycemia
ORPHA:6	MCCC2	64087	HP:0001531	Failure to thrive in infancy
ORPHA:6	MCCC2	64087	HP:0004357	Abnormality of leucine metabolism
ORPHA:6	MCCC1	56922	HP:0100022	Abnormality of movement
ORPHA:6	MCCC1	56922	HP:0001992	Organic aciduria
ORPHA:6	MCCC1	56922	HP:0001252	Muscular hypotonia
ORPHA:6	MCCC1	56922	HP:0001987	Hyperammonemia
ORPHA:6	MCCC1	56922	HP:0001943	Hypoglycemia
ORPHA:6	MCCC1	56922	HP:0001531	Failure to thrive in infancy
ORPHA:6	MCCC1	56922	HP:0004357	Abnormality of leucine metabolism
OMIM:260400	SBDS	51119	HP:0001903	Anemia
OMIM:260400	SBDS	51119	HP:0002750	Delayed skeletal maturation
OMIM:260400	SBDS	51119	HP:0005871	Metaphyseal chondrodysplasia
OMIM:260400	SBDS	51119	HP:0011904	Persistence of hemoglobin F
OMIM:260400	SBDS	51119	HP:0001738	Exocrine pancreatic insufficiency
OMIM:260400	SBDS	51119	HP:0000007	Autosomal recessive inheritance
OMIM:260400	SBDS	51119	HP:0001328	Specific learning disability
OMIM:260400	SBDS	51119	HP:0001700	Myocardial necrosis
OMIM:260400	SBDS	51119	HP:0002240	Hepatomegaly
OMIM:260400	SBDS	51119	HP:0000121	Nephrocalcinosis
OMIM:260400	SBDS	51119	HP:0002719	Recurrent infections
OMIM:260400	SBDS	51119	HP:0001508	Failure to thrive
OMIM:260400	SBDS	51119	HP:0004808	Acute myeloid leukemia
OMIM:260400	SBDS	51119	HP:0000774	Narrow chest
OMIM:260400	SBDS	51119	HP:0002812	Coxa vara
OMIM:260400	SBDS	51119	HP:0008803	Narrow sacroiliac notch
OMIM:260400	SBDS	51119	HP:0002863	Myelodysplasia
OMIM:260400	SBDS	51119	HP:0006461	Proximal femoral epiphysiolysis
OMIM:260400	SBDS	51119	HP:0002910	Elevated hepatic transaminases
OMIM:260400	SBDS	51119	HP:0001518	Small for gestational age
OMIM:260400	SBDS	51119	HP:0004322	Short stature
OMIM:260400	SBDS	51119	HP:0003300	Ovoid vertebral bodies
OMIM:260400	SBDS	51119	HP:0006598	Irregular ossification at anterior rib ends
OMIM:260400	SBDS	51119	HP:0004979	Metaphyseal sclerosis
OMIM:260400	SBDS	51119	HP:0002643	Neonatal respiratory distress
OMIM:260400	SBDS	51119	HP:0001256	Intellectual disability, mild
OMIM:260400	SBDS	51119	HP:0001263	Global developmental delay
OMIM:260400	SBDS	51119	HP:0001873	Thrombocytopenia
OMIM:260400	SBDS	51119	HP:0001875	Neutropenia
OMIM:260400	SBDS	51119	HP:0000920	Enlargement of the costochondral junction
OMIM:260400	SBDS	51119	HP:0003016	Metaphyseal widening
OMIM:260400	SBDS	51119	HP:0001876	Pancytopenia
OMIM:260400	SBDS	51119	HP:0002570	Steatorrhea
OMIM:610798	LAMTOR2	28956	HP:0001010	Hypopigmentation of the skin
OMIM:610798	LAMTOR2	28956	HP:0006538	Recurrent bronchopulmonary infections
OMIM:610798	LAMTOR2	28956	HP:0002850	IgM deficiency
OMIM:610798	LAMTOR2	28956	HP:0004322	Short stature
OMIM:610798	LAMTOR2	28956	HP:0000007	Autosomal recessive inheritance
OMIM:610798	LAMTOR2	28956	HP:0000280	Coarse facial features
OMIM:610798	LAMTOR2	28956	HP:0001875	Neutropenia
OMIM:610798	LAMTOR2	28956	HP:0002721	Immunodeficiency
OMIM:263800	SLC12A3	6559	HP:0000848	Increased circulating renin level
OMIM:263800	SLC12A3	6559	HP:0001959	Polydipsia
OMIM:263800	SLC12A3	6559	HP:0003324	Generalized muscle weakness
OMIM:263800	SLC12A3	6559	HP:0005567	Renal magnesium wasting
OMIM:263800	SLC12A3	6559	HP:0000934	Chondrocalcinosis
OMIM:263800	SLC12A3	6559	HP:0001949	Hypokalemic alkalosis
OMIM:263800	SLC12A3	6559	HP:0003394	Muscle cramps
OMIM:263800	SLC12A3	6559	HP:0003621	Juvenile onset
OMIM:263800	SLC12A3	6559	HP:0002917	Hypomagnesemia
OMIM:263800	SLC12A3	6559	HP:0001250	Seizures
OMIM:263800	SLC12A3	6559	HP:0003127	Hypocalciuria
OMIM:263800	SLC12A3	6559	HP:0003401	Paresthesia
OMIM:263800	SLC12A3	6559	HP:0000128	Renal potassium wasting
OMIM:263800	SLC12A3	6559	HP:0003470	Paralysis
OMIM:263800	SLC12A3	6559	HP:0001281	Tetany
OMIM:263800	SLC12A3	6559	HP:0000007	Autosomal recessive inheritance
OMIM:263800	SLC12A3	6559	HP:0000103	Polyuria
OMIM:263800	SLC12A3	6559	HP:0002900	Hypokalemia
OMIM:193530	EVC2	132884	HP:0000006	Autosomal dominant inheritance
OMIM:193530	EVC2	132884	HP:0000601	Hypotelorism
OMIM:193530	EVC2	132884	HP:0004209	Clinodactyly of the 5th finger
OMIM:193530	EVC2	132884	HP:0004279	Short palm
OMIM:193530	EVC2	132884	HP:0000395	Prominent antihelix
OMIM:193530	EVC2	132884	HP:0001162	Postaxial hand polydactyly
OMIM:193530	EVC2	132884	HP:0000698	Conical tooth
OMIM:193530	EVC2	132884	HP:0001156	Brachydactyly
OMIM:193530	EVC2	132884	HP:0001792	Small nail
OMIM:193530	EVC2	132884	HP:0006315	Single median maxillary incisor
OMIM:193530	EVC2	132884	HP:0001830	Postaxial foot polydactyly
OMIM:193530	EVC2	132884	HP:0002164	Nail dysplasia
OMIM:193530	EVC2	132884	HP:0003502	Mild short stature
OMIM:193530	EVC	2121	HP:0000006	Autosomal dominant inheritance
OMIM:193530	EVC	2121	HP:0000601	Hypotelorism
OMIM:193530	EVC	2121	HP:0004209	Clinodactyly of the 5th finger
OMIM:193530	EVC	2121	HP:0004279	Short palm
OMIM:193530	EVC	2121	HP:0000395	Prominent antihelix
OMIM:193530	EVC	2121	HP:0001162	Postaxial hand polydactyly
OMIM:193530	EVC	2121	HP:0000698	Conical tooth
OMIM:193530	EVC	2121	HP:0001156	Brachydactyly
OMIM:193530	EVC	2121	HP:0001792	Small nail
OMIM:193530	EVC	2121	HP:0006315	Single median maxillary incisor
OMIM:193530	EVC	2121	HP:0001830	Postaxial foot polydactyly
OMIM:193530	EVC	2121	HP:0002164	Nail dysplasia
OMIM:193530	EVC	2121	HP:0003502	Mild short stature
OMIM:615696	POGLUT1	56983	HP:0000006	Autosomal dominant inheritance
OMIM:615696	POGLUT1	56983	HP:0025092	Epidermal acanthosis
OMIM:606545	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:606545	ALOXE3	59344	HP:0000962	Hyperkeratosis
OMIM:606545	ALOXE3	59344	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:606545	ALOXE3	59344	HP:0000966	Hypohidrosis
ORPHA:15	FGFR3	2261	HP:0000678	Dental crowding
ORPHA:15	FGFR3	2261	HP:0002970	Genu varum
ORPHA:15	FGFR3	2261	HP:0002808	Kyphosis
ORPHA:15	FGFR3	2261	HP:0005019	Diaphyseal thickening
ORPHA:15	FGFR3	2261	HP:0003307	Hyperlordosis
ORPHA:15	FGFR3	2261	HP:0000405	Conductive hearing impairment
ORPHA:15	FGFR3	2261	HP:0000975	Hyperhidrosis
ORPHA:15	FGFR3	2261	HP:0005692	Joint hyperflexibility
ORPHA:15	FGFR3	2261	HP:0100818	Long thorax
ORPHA:15	FGFR3	2261	HP:0002645	Wormian bones
ORPHA:15	FGFR3	2261	HP:0005280	Depressed nasal bridge
ORPHA:15	FGFR3	2261	HP:0000774	Narrow chest
ORPHA:15	FGFR3	2261	HP:0002119	Ventriculomegaly
ORPHA:15	FGFR3	2261	HP:0011800	Midface retrusion
ORPHA:15	FGFR3	2261	HP:0000944	Abnormality of the metaphysis
ORPHA:15	FGFR3	2261	HP:0000772	Abnormality of the ribs
ORPHA:15	FGFR3	2261	HP:0008921	Neonatal short-limb short stature
ORPHA:15	FGFR3	2261	HP:0008905	Rhizomelia
ORPHA:15	FGFR3	2261	HP:0001511	Intrauterine growth retardation
ORPHA:15	FGFR3	2261	HP:0008803	Narrow sacroiliac notch
ORPHA:15	FGFR3	2261	HP:0000256	Macrocephaly
ORPHA:15	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:15	FGFR3	2261	HP:0002870	Obstructive sleep apnea
ORPHA:15	FGFR3	2261	HP:0002007	Frontal bossing
ORPHA:15	FGFR3	2261	HP:0000389	Chronic otitis media
ORPHA:15	FGFR3	2261	HP:0000463	Anteverted nares
ORPHA:15	FGFR3	2261	HP:0000689	Dental malocclusion
ORPHA:15	FGFR3	2261	HP:0001513	Obesity
ORPHA:15	FGFR3	2261	HP:0001252	Muscular hypotonia
OMIM:616398	KCTD17	79734	HP:0000716	Depressivity
OMIM:616398	KCTD17	79734	HP:0012049	Laryngeal dystonia
OMIM:616398	KCTD17	79734	HP:0000473	Torticollis
OMIM:616398	KCTD17	79734	HP:0000643	Blepharospasm
OMIM:616398	KCTD17	79734	HP:0001336	Myoclonus
OMIM:616398	KCTD17	79734	HP:0000006	Autosomal dominant inheritance
OMIM:616398	KCTD17	79734	HP:0003676	Progressive
OMIM:616398	KCTD17	79734	HP:0001260	Dysarthria
OMIM:243500	IVD	3712	HP:0001944	Dehydration
OMIM:243500	IVD	3712	HP:0002013	Vomiting
OMIM:243500	IVD	3712	HP:0003108	Hyperglycinuria
OMIM:243500	IVD	3712	HP:0001873	Thrombocytopenia
OMIM:243500	IVD	3712	HP:0001250	Seizures
OMIM:243500	IVD	3712	HP:0001993	Ketoacidosis
OMIM:243500	IVD	3712	HP:0000007	Autosomal recessive inheritance
OMIM:243500	IVD	3712	HP:0001876	Pancytopenia
OMIM:243500	IVD	3712	HP:0001263	Global developmental delay
OMIM:243500	IVD	3712	HP:0001942	Metabolic acidosis
OMIM:243500	IVD	3712	HP:0005528	Bone marrow hypocellularity
OMIM:243500	IVD	3712	HP:0001259	Coma
OMIM:243500	IVD	3712	HP:0001882	Leukopenia
OMIM:243500	IVD	3712	HP:0001254	Lethargy
OMIM:613735	NFIA	4774	HP:0000337	Broad forehead
OMIM:613735	NFIA	4774	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613735	NFIA	4774	HP:0000023	Inguinal hernia
OMIM:613735	NFIA	4774	HP:0000331	Short chin
OMIM:613735	NFIA	4774	HP:0001250	Seizures
OMIM:613735	NFIA	4774	HP:0003812	Phenotypic variability
OMIM:613735	NFIA	4774	HP:0003196	Short nose
OMIM:613735	NFIA	4774	HP:0007099	Arnold-Chiari type I malformation
OMIM:613735	NFIA	4774	HP:0000126	Hydronephrosis
OMIM:613735	NFIA	4774	HP:0001249	Intellectual disability
OMIM:613735	NFIA	4774	HP:0002119	Ventriculomegaly
OMIM:613735	NFIA	4774	HP:0000369	Low-set ears
OMIM:613735	NFIA	4774	HP:0000283	Broad face
OMIM:613735	NFIA	4774	HP:0000089	Renal hypoplasia
OMIM:613735	NFIA	4774	HP:0001263	Global developmental delay
OMIM:613735	NFIA	4774	HP:0001274	Agenesis of corpus callosum
OMIM:613735	NFIA	4774	HP:0003745	Sporadic
OMIM:613735	NFIA	4774	HP:0000160	Narrow mouth
OMIM:613735	NFIA	4774	HP:0000965	Cutis marmorata
OMIM:613735	NFIA	4774	HP:0100543	Cognitive impairment
OMIM:613735	NFIA	4774	HP:0000076	Vesicoureteral reflux
OMIM:613735	NFIA	4774	HP:0001290	Generalized hypotonia
OMIM:613735	NFIA	4774	HP:0003396	Syringomyelia
OMIM:613735	NFIA	4774	HP:0000463	Anteverted nares
OMIM:613735	NFIA	4774	HP:0000219	Thin upper lip vermilion
OMIM:613735	NFIA	4774	HP:0000256	Macrocephaly
OMIM:613694	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613694	PSEN1	5663	HP:0001279	Syncope
OMIM:613694	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613694	PSEN1	5663	HP:0001635	Congestive heart failure
ORPHA:48	ADGRG2	10149	HP:0011962	Obstructive azoospermia
ORPHA:48	ADGRG2	10149	HP:0003251	Male infertility
ORPHA:48	ADGRG2	10149	HP:0012873	Absent vas deferens
ORPHA:48	CFTR	1080	HP:0011962	Obstructive azoospermia
ORPHA:48	CFTR	1080	HP:0003251	Male infertility
ORPHA:48	CFTR	1080	HP:0012873	Absent vas deferens
OMIM:147050	SPINK5	11005	HP:0003212	Increased IgE level
OMIM:147050	SPINK5	11005	HP:0000964	Eczema
OMIM:147050	SPINK5	11005	HP:0002099	Asthma
OMIM:147050	SPINK5	11005	HP:0003193	Allergic rhinitis
OMIM:147050	SPINK5	11005	HP:0000006	Autosomal dominant inheritance
OMIM:201710	STAR	6770	HP:0008258	Congenital adrenal hyperplasia
OMIM:201710	STAR	6770	HP:0000840	Adrenogenital syndrome
OMIM:201710	STAR	6770	HP:0000047	Hypospadias
OMIM:201710	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:201710	STAR	6770	HP:0000127	Renal salt wasting
OMIM:601885	GJA3	2700	HP:0010920	Zonular cataract
OMIM:601885	GJA3	2700	HP:0000006	Autosomal dominant inheritance
ORPHA:79400	KRT14	3861	HP:0000975	Hyperhidrosis
ORPHA:79400	KRT14	3861	HP:0000978	Bruising susceptibility
ORPHA:79400	KRT5	3852	HP:0000975	Hyperhidrosis
ORPHA:79400	KRT5	3852	HP:0000978	Bruising susceptibility
OMIM:175050	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:175050	SMAD4	4089	HP:0002573	Hematochezia
OMIM:175050	SMAD4	4089	HP:0001903	Anemia
OMIM:175050	SMAD4	4089	HP:0004390	Hamartomatous polyposis
OMIM:167800	SPINK1	6690	HP:0000819	Diabetes mellitus
OMIM:167800	SPINK1	6690	HP:0001945	Fever
OMIM:167800	SPINK1	6690	HP:0002202	Pleural effusion
OMIM:167800	SPINK1	6690	HP:0000006	Autosomal dominant inheritance
OMIM:167800	SPINK1	6690	HP:0005213	Pancreatic calcification
OMIM:167800	SPINK1	6690	HP:0001733	Pancreatitis
OMIM:167800	SPINK1	6690	HP:0005206	Pancreatic pseudocyst
OMIM:167800	SPINK1	6690	HP:0001738	Exocrine pancreatic insufficiency
OMIM:167800	SPINK1	6690	HP:0002027	Abdominal pain
OMIM:167800	SPINK1	6690	HP:0002570	Steatorrhea
OMIM:167800	SPINK1	6690	HP:0001977	Abnormal thrombosis
OMIM:167800	PRSS1	5644	HP:0000819	Diabetes mellitus
OMIM:167800	PRSS1	5644	HP:0001945	Fever
OMIM:167800	PRSS1	5644	HP:0002202	Pleural effusion
OMIM:167800	PRSS1	5644	HP:0000006	Autosomal dominant inheritance
OMIM:167800	PRSS1	5644	HP:0005213	Pancreatic calcification
OMIM:167800	PRSS1	5644	HP:0001733	Pancreatitis
OMIM:167800	PRSS1	5644	HP:0005206	Pancreatic pseudocyst
OMIM:167800	PRSS1	5644	HP:0001738	Exocrine pancreatic insufficiency
OMIM:167800	PRSS1	5644	HP:0002027	Abdominal pain
OMIM:167800	PRSS1	5644	HP:0002570	Steatorrhea
OMIM:167800	PRSS1	5644	HP:0001977	Abnormal thrombosis
OMIM:609536	C5	727	HP:0002719	Recurrent infections
OMIM:609536	C5	727	HP:0006946	Recurrent meningitis
OMIM:609536	C5	727	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C5	727	HP:0004431	Complement deficiency
OMIM:609536	C5	727	HP:0002041	Intractable diarrhea
ORPHA:99875	COL1A1	1277	HP:0000974	Hyperextensible skin
ORPHA:99875	COL1A1	1277	HP:0001324	Muscle weakness
ORPHA:99875	COL1A1	1277	HP:0005692	Joint hyperflexibility
ORPHA:99875	COL1A1	1277	HP:0004322	Short stature
ORPHA:99875	COL1A1	1277	HP:0000963	Thin skin
ORPHA:99875	COL1A1	1277	HP:0001075	Atrophic scars
OMIM:603671	ZSWIM6	57688	HP:0002690	Large sella turcica
OMIM:603671	ZSWIM6	57688	HP:0000455	Broad nasal tip
OMIM:603671	ZSWIM6	57688	HP:0002084	Encephalocele
OMIM:603671	ZSWIM6	57688	HP:0000175	Cleft palate
OMIM:603671	ZSWIM6	57688	HP:0000506	Telecanthus
OMIM:603671	ZSWIM6	57688	HP:0001250	Seizures
OMIM:603671	ZSWIM6	57688	HP:0000316	Hypertelorism
OMIM:603671	ZSWIM6	57688	HP:0002119	Ventriculomegaly
OMIM:603671	ZSWIM6	57688	HP:0011803	Bifid nose
OMIM:603671	ZSWIM6	57688	HP:0001762	Talipes equinovarus
OMIM:603671	ZSWIM6	57688	HP:0001805	Thick nail
OMIM:603671	ZSWIM6	57688	HP:0000006	Autosomal dominant inheritance
OMIM:603671	ZSWIM6	57688	HP:0000248	Brachycephaly
OMIM:603671	ZSWIM6	57688	HP:0001159	Syndactyly
OMIM:603671	ZSWIM6	57688	HP:0001249	Intellectual disability
OMIM:603671	ZSWIM6	57688	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603671	ZSWIM6	57688	HP:0000204	Cleft upper lip
OMIM:603671	ZSWIM6	57688	HP:0002190	Choroid plexus cyst
OMIM:603671	ZSWIM6	57688	HP:0001274	Agenesis of corpus callosum
OMIM:603671	ZSWIM6	57688	HP:0006951	Retrocerebellar cyst
OMIM:603671	ZSWIM6	57688	HP:0100258	Preaxial polydactyly
OMIM:616760	KRT25	147183	HP:0000653	Sparse eyelashes
OMIM:616760	KRT25	147183	HP:0001006	Hypotrichosis
OMIM:616760	KRT25	147183	HP:0002213	Fine hair
OMIM:616760	KRT25	147183	HP:0009886	Trichorrhexis nodosa
OMIM:616760	KRT25	147183	HP:0002212	Curly hair
OMIM:616760	KRT25	147183	HP:0002209	Sparse scalp hair
OMIM:616760	KRT25	147183	HP:0000007	Autosomal recessive inheritance
OMIM:271930	NUP62	23636	HP:0001249	Intellectual disability
OMIM:271930	NUP62	23636	HP:0001257	Spasticity
OMIM:271930	NUP62	23636	HP:0001332	Dystonia
OMIM:271930	NUP62	23636	HP:0002015	Dysphagia
OMIM:271930	NUP62	23636	HP:0000007	Autosomal recessive inheritance
OMIM:271930	NUP62	23636	HP:0007281	Developmental stagnation
OMIM:271930	NUP62	23636	HP:0002376	Developmental regression
OMIM:271930	NUP62	23636	HP:0012043	Pendular nystagmus
OMIM:271930	NUP62	23636	HP:0001266	Choreoathetosis
OMIM:271930	NUP62	23636	HP:0000648	Optic atrophy
OMIM:271930	NUP62	23636	HP:0001508	Failure to thrive
ORPHA:79278	FECH	2235	HP:0010472	Abnormality of the heme biosynthetic pathway
ORPHA:79278	FECH	2235	HP:0000992	Cutaneous photosensitivity
ORPHA:79278	FECH	2235	HP:0010783	Erythema
ORPHA:79278	FECH	2235	HP:0000989	Pruritus
OMIM:151623	TP53	7157	HP:0002488	Acute leukemia
OMIM:151623	TP53	7157	HP:0002667	Nephroblastoma
OMIM:151623	TP53	7157	HP:0003003	Colon cancer
OMIM:151623	TP53	7157	HP:0012125	Prostate cancer
OMIM:151623	TP53	7157	HP:0002894	Neoplasm of the pancreas
OMIM:151623	TP53	7157	HP:0003002	Breast carcinoma
OMIM:151623	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:151623	TP53	7157	HP:0030448	Soft tissue sarcoma
OMIM:151623	TP53	7157	HP:0100787	Prostate neoplasm
OMIM:151623	TP53	7157	HP:0002669	Osteosarcoma
OMIM:151623	TP53	7157	HP:0006744	Adrenocortical carcinoma
OMIM:151623	TP53	7157	HP:0030078	Lung adenocarcinoma
ORPHA:98895	DMD	1756	HP:0012086	Abnormal urinary color
ORPHA:98895	DMD	1756	HP:0003394	Muscle cramps
ORPHA:98895	DMD	1756	HP:0002355	Difficulty walking
ORPHA:98895	DMD	1756	HP:0012378	Fatigue
ORPHA:98895	DMD	1756	HP:0003551	Difficulty climbing stairs
ORPHA:98895	DMD	1756	HP:0002527	Falls
ORPHA:98895	DMD	1756	HP:0003326	Myalgia
ORPHA:98895	DMD	1756	HP:0003546	Exercise intolerance
ORPHA:98895	DMD	1756	HP:0002910	Elevated hepatic transaminases
ORPHA:98895	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:98895	DMD	1756	HP:0001324	Muscle weakness
ORPHA:98895	DMD	1756	HP:0002913	Myoglobinuria
OMIM:219090	AIP	9049	HP:0002893	Pituitary adenoma
OMIM:219090	AIP	9049	HP:0000787	Nephrolithiasis
OMIM:219090	AIP	9049	HP:0000876	Oligomenorrhea
OMIM:219090	AIP	9049	HP:0000978	Bruising susceptibility
OMIM:219090	AIP	9049	HP:0012743	Abdominal obesity
OMIM:219090	AIP	9049	HP:0000822	Hypertension
OMIM:219090	AIP	9049	HP:0001575	Mood changes
OMIM:219090	AIP	9049	HP:0000979	Purpura
OMIM:219090	AIP	9049	HP:0003202	Skeletal muscle atrophy
OMIM:219090	AIP	9049	HP:0004586	Biconcave vertebral bodies
OMIM:219090	AIP	9049	HP:0001345	Psychotic mentation
OMIM:219090	AIP	9049	HP:0100852	Abnormal fear/anxiety-related behavior
OMIM:219090	AIP	9049	HP:0001007	Hirsutism
OMIM:219090	AIP	9049	HP:0001041	Facial erythema
OMIM:219090	AIP	9049	HP:0002900	Hypokalemia
OMIM:219090	AIP	9049	HP:0002808	Kyphosis
OMIM:219090	AIP	9049	HP:0001058	Poor wound healing
OMIM:219090	AIP	9049	HP:0000963	Thin skin
OMIM:219090	AIP	9049	HP:0002953	Vertebral compression fractures
OMIM:219090	AIP	9049	HP:0000969	Edema
OMIM:219090	AIP	9049	HP:0001065	Striae distensae
OMIM:219090	AIP	9049	HP:0001948	Alkalosis
OMIM:219090	AIP	9049	HP:0000833	Glucose intolerance
OMIM:219090	AIP	9049	HP:0003154	Increased circulating ACTH level
OMIM:219090	AIP	9049	HP:0000939	Osteoporosis
OMIM:219090	USP8	9101	HP:0002893	Pituitary adenoma
OMIM:219090	USP8	9101	HP:0000787	Nephrolithiasis
OMIM:219090	USP8	9101	HP:0000876	Oligomenorrhea
OMIM:219090	USP8	9101	HP:0000978	Bruising susceptibility
OMIM:219090	USP8	9101	HP:0012743	Abdominal obesity
OMIM:219090	USP8	9101	HP:0000822	Hypertension
OMIM:219090	USP8	9101	HP:0001575	Mood changes
OMIM:219090	USP8	9101	HP:0000979	Purpura
OMIM:219090	USP8	9101	HP:0003202	Skeletal muscle atrophy
OMIM:219090	USP8	9101	HP:0004586	Biconcave vertebral bodies
OMIM:219090	USP8	9101	HP:0001345	Psychotic mentation
OMIM:219090	USP8	9101	HP:0100852	Abnormal fear/anxiety-related behavior
OMIM:219090	USP8	9101	HP:0001007	Hirsutism
OMIM:219090	USP8	9101	HP:0001041	Facial erythema
OMIM:219090	USP8	9101	HP:0002900	Hypokalemia
OMIM:219090	USP8	9101	HP:0002808	Kyphosis
OMIM:219090	USP8	9101	HP:0001058	Poor wound healing
OMIM:219090	USP8	9101	HP:0000963	Thin skin
OMIM:219090	USP8	9101	HP:0002953	Vertebral compression fractures
OMIM:219090	USP8	9101	HP:0000969	Edema
OMIM:219090	USP8	9101	HP:0001065	Striae distensae
OMIM:219090	USP8	9101	HP:0001948	Alkalosis
OMIM:219090	USP8	9101	HP:0000833	Glucose intolerance
OMIM:219090	USP8	9101	HP:0003154	Increased circulating ACTH level
OMIM:219090	USP8	9101	HP:0000939	Osteoporosis
OMIM:613252	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:113300	HOXD13	3239	HP:0000311	Round face
OMIM:113300	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:113300	HOXD13	3239	HP:0006587	Straight clavicles
OMIM:113300	HOXD13	3239	HP:0008848	Moderately short stature
OMIM:113300	HOXD13	3239	HP:0005863	Type E brachydactyly
OMIM:113300	HOXD13	3239	HP:0001156	Brachydactyly
OMIM:113300	HOXD13	3239	HP:0001571	Multiple impacted teeth
OMIM:113300	HOXD13	3239	HP:0010743	Short metatarsal
OMIM:113300	HOXD13	3239	HP:0000894	Short clavicles
OMIM:113300	HOXD13	3239	HP:0010049	Short metacarpal
ORPHA:93308	COMP	1311	HP:0001288	Gait disturbance
ORPHA:93308	COMP	1311	HP:0001385	Hip dysplasia
ORPHA:93308	COMP	1311	HP:0004279	Short palm
ORPHA:93308	COMP	1311	HP:0001376	Limitation of joint mobility
ORPHA:93308	COMP	1311	HP:0002656	Epiphyseal dysplasia
ORPHA:93308	COMP	1311	HP:0003502	Mild short stature
ORPHA:93308	COMP	1311	HP:0002983	Micromelia
ORPHA:93308	COMP	1311	HP:0002758	Osteoarthritis
ORPHA:93308	COMP	1311	HP:0002829	Arthralgia
ORPHA:93308	COMP	1311	HP:0001373	Joint dislocation
OMIM:613229	SLITRK1	114798	HP:0000722	Obsessive-compulsive behavior
OMIM:613229	SLITRK1	114798	HP:0001596	Alopecia
OMIM:613229	SLITRK1	114798	HP:0001426	Multifactorial inheritance
OMIM:613229	SLITRK1	114798	HP:0000006	Autosomal dominant inheritance
OMIM:613229	SLITRK1	114798	HP:0012167	Hair-pulling
OMIM:606170	KAT6B	23522	HP:0030048	Colpocephaly
OMIM:606170	KAT6B	23522	HP:0002209	Sparse scalp hair
OMIM:606170	KAT6B	23522	HP:0007165	Periventricular gray matter heterotopia
OMIM:606170	KAT6B	23522	HP:0008823	Hypoplastic inferior pubic rami
OMIM:606170	KAT6B	23522	HP:0000448	Prominent nose
OMIM:606170	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:606170	KAT6B	23522	HP:0001274	Agenesis of corpus callosum
OMIM:606170	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:606170	KAT6B	23522	HP:0003175	Hypoplastic ischia
OMIM:606170	KAT6B	23522	HP:0000003	Multicystic kidney dysplasia
OMIM:606170	KAT6B	23522	HP:0000280	Coarse facial features
OMIM:606170	KAT6B	23522	HP:0000445	Wide nose
OMIM:606170	KAT6B	23522	HP:0008665	Clitoral hypertrophy
OMIM:606170	KAT6B	23522	HP:0001374	Congenital hip dislocation
OMIM:606170	KAT6B	23522	HP:0000347	Micrognathia
OMIM:606170	KAT6B	23522	HP:0009803	Short phalanx of finger
OMIM:606170	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:606170	KAT6B	23522	HP:0006380	Knee flexion contracture
OMIM:606170	KAT6B	23522	HP:0000126	Hydronephrosis
OMIM:606170	KAT6B	23522	HP:0002089	Pulmonary hypoplasia
OMIM:606170	KAT6B	23522	HP:0000054	Micropenis
OMIM:606170	KAT6B	23522	HP:0003273	Hip contracture
OMIM:606170	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:606170	KAT6B	23522	HP:0000007	Autosomal recessive inheritance
OMIM:606170	KAT6B	23522	HP:0001762	Talipes equinovarus
OMIM:606170	KAT6B	23522	HP:0000046	Scrotal hypoplasia
OMIM:606170	KAT6B	23522	HP:0001290	Generalized hypotonia
OMIM:606170	KAT6B	23522	HP:0001631	Atrial septal defect
OMIM:606170	KAT6B	23522	HP:0000365	Hearing impairment
OMIM:606170	KAT6B	23522	HP:0001601	Laryngomalacia
OMIM:606170	KAT6B	23522	HP:0000252	Microcephaly
OMIM:606170	KAT6B	23522	HP:0001561	Polyhydramnios
OMIM:606170	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:606170	KAT6B	23522	HP:0000684	Delayed eruption of teeth
OMIM:606170	KAT6B	23522	HP:0002999	Patellar dislocation
OMIM:606170	KAT6B	23522	HP:0006887	Intellectual disability, progressive
OMIM:606170	KAT6B	23522	HP:0001156	Brachydactyly
OMIM:606170	KAT6B	23522	HP:0006443	Patellar aplasia
OMIM:606170	KAT6B	23522	HP:0002015	Dysphagia
OMIM:606170	KAT6B	23522	HP:0008683	Enlarged labia minora
OMIM:606170	KAT6B	23522	HP:0000426	Prominent nasal bridge
OMIM:616029	GRHL2	79977	HP:0000668	Hypodontia
OMIM:616029	GRHL2	79977	HP:0001798	Anonychia
OMIM:616029	GRHL2	79977	HP:0008404	Nail dystrophy
OMIM:616029	GRHL2	79977	HP:0000007	Autosomal recessive inheritance
OMIM:616029	GRHL2	79977	HP:0000962	Hyperkeratosis
OMIM:616029	GRHL2	79977	HP:0006297	Hypoplasia of dental enamel
OMIM:616029	GRHL2	79977	HP:0025092	Epidermal acanthosis
OMIM:616029	GRHL2	79977	HP:0004322	Short stature
OMIM:300510	BMP15	9210	HP:0008639	Gonadal hypoplasia
OMIM:300510	BMP15	9210	HP:0008209	Premature ovarian insufficiency
OMIM:300510	BMP15	9210	HP:0000823	Delayed puberty
OMIM:300510	BMP15	9210	HP:0001007	Hirsutism
OMIM:300510	BMP15	9210	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300510	BMP15	9210	HP:0000869	Secondary amenorrhea
OMIM:300510	BMP15	9210	HP:0000006	Autosomal dominant inheritance
OMIM:300510	BMP15	9210	HP:0000013	Hypoplasia of the uterus
OMIM:300510	BMP15	9210	HP:0000786	Primary amenorrhea
OMIM:609741	CRYBB3	1417	HP:0100018	Nuclear cataract
OMIM:609741	CRYBB3	1417	HP:0000007	Autosomal recessive inheritance
OMIM:609741	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:609741	CRYBB3	1417	HP:0000519	Congenital cataract
ORPHA:86818	ACSL4	2182	HP:0001182	Tapered finger
ORPHA:86818	ACSL4	2182	HP:0000083	Renal insufficiency
ORPHA:86818	ACSL4	2182	HP:0000463	Anteverted nares
ORPHA:86818	ACSL4	2182	HP:0000233	Thin vermilion border
ORPHA:86818	ACSL4	2182	HP:0005280	Depressed nasal bridge
ORPHA:86818	ACSL4	2182	HP:0001252	Muscular hypotonia
ORPHA:86818	ACSL4	2182	HP:0010864	Intellectual disability, severe
ORPHA:86818	ACSL4	2182	HP:0001595	Abnormality of the hair
ORPHA:86818	ACSL4	2182	HP:0012471	Thick vermilion border
ORPHA:86818	ACSL4	2182	HP:0000093	Proteinuria
ORPHA:86818	ACSL4	2182	HP:0000365	Hearing impairment
ORPHA:86818	ACSL4	2182	HP:0000272	Malar flattening
ORPHA:86818	ACSL4	2182	HP:0000494	Downslanted palpebral fissures
ORPHA:86818	ACSL4	2182	HP:0002907	Microscopic hematuria
ORPHA:86818	ACSL4	2182	HP:0100820	Glomerulopathy
ORPHA:86818	ACSL4	2182	HP:0004445	Elliptocytosis
ORPHA:86818	AMMECR1	9949	HP:0001182	Tapered finger
ORPHA:86818	AMMECR1	9949	HP:0000083	Renal insufficiency
ORPHA:86818	AMMECR1	9949	HP:0000463	Anteverted nares
ORPHA:86818	AMMECR1	9949	HP:0000233	Thin vermilion border
ORPHA:86818	AMMECR1	9949	HP:0005280	Depressed nasal bridge
ORPHA:86818	AMMECR1	9949	HP:0001252	Muscular hypotonia
ORPHA:86818	AMMECR1	9949	HP:0010864	Intellectual disability, severe
ORPHA:86818	AMMECR1	9949	HP:0001595	Abnormality of the hair
ORPHA:86818	AMMECR1	9949	HP:0012471	Thick vermilion border
ORPHA:86818	AMMECR1	9949	HP:0000093	Proteinuria
ORPHA:86818	AMMECR1	9949	HP:0000365	Hearing impairment
ORPHA:86818	AMMECR1	9949	HP:0000272	Malar flattening
ORPHA:86818	AMMECR1	9949	HP:0000494	Downslanted palpebral fissures
ORPHA:86818	AMMECR1	9949	HP:0002907	Microscopic hematuria
ORPHA:86818	AMMECR1	9949	HP:0100820	Glomerulopathy
ORPHA:86818	AMMECR1	9949	HP:0004445	Elliptocytosis
ORPHA:86818	KCNE5	23630	HP:0001182	Tapered finger
ORPHA:86818	KCNE5	23630	HP:0000083	Renal insufficiency
ORPHA:86818	KCNE5	23630	HP:0000463	Anteverted nares
ORPHA:86818	KCNE5	23630	HP:0000233	Thin vermilion border
ORPHA:86818	KCNE5	23630	HP:0005280	Depressed nasal bridge
ORPHA:86818	KCNE5	23630	HP:0001252	Muscular hypotonia
ORPHA:86818	KCNE5	23630	HP:0010864	Intellectual disability, severe
ORPHA:86818	KCNE5	23630	HP:0001595	Abnormality of the hair
ORPHA:86818	KCNE5	23630	HP:0012471	Thick vermilion border
ORPHA:86818	KCNE5	23630	HP:0000093	Proteinuria
ORPHA:86818	KCNE5	23630	HP:0000365	Hearing impairment
ORPHA:86818	KCNE5	23630	HP:0000272	Malar flattening
ORPHA:86818	KCNE5	23630	HP:0000494	Downslanted palpebral fissures
ORPHA:86818	KCNE5	23630	HP:0002907	Microscopic hematuria
ORPHA:86818	KCNE5	23630	HP:0100820	Glomerulopathy
ORPHA:86818	KCNE5	23630	HP:0004445	Elliptocytosis
OMIM:617126	TAF6	6878	HP:0000007	Autosomal recessive inheritance
OMIM:617126	TAF6	6878	HP:0000218	High palate
OMIM:617126	TAF6	6878	HP:0000294	Low anterior hairline
OMIM:617126	TAF6	6878	HP:0000574	Thick eyebrow
OMIM:617126	TAF6	6878	HP:0000219	Thin upper lip vermilion
OMIM:617126	TAF6	6878	HP:0000028	Cryptorchidism
OMIM:617126	TAF6	6878	HP:0000343	Long philtrum
OMIM:617126	TAF6	6878	HP:0000426	Prominent nasal bridge
OMIM:617126	TAF6	6878	HP:0002553	Highly arched eyebrow
OMIM:617126	TAF6	6878	HP:0001319	Neonatal hypotonia
OMIM:617126	TAF6	6878	HP:0010055	Broad hallux
OMIM:617126	TAF6	6878	HP:0000430	Underdeveloped nasal alae
OMIM:617126	TAF6	6878	HP:0000752	Hyperactivity
OMIM:617126	TAF6	6878	HP:0001263	Global developmental delay
OMIM:617126	TAF6	6878	HP:0004322	Short stature
OMIM:617126	TAF6	6878	HP:0000678	Dental crowding
OMIM:617126	TAF6	6878	HP:0000664	Synophrys
OMIM:617126	TAF6	6878	HP:0001007	Hirsutism
OMIM:617126	TAF6	6878	HP:0000448	Prominent nose
OMIM:617126	TAF6	6878	HP:0000160	Narrow mouth
OMIM:617126	TAF6	6878	HP:0000527	Long eyelashes
OMIM:617126	TAF6	6878	HP:0000252	Microcephaly
OMIM:617126	TAF6	6878	HP:0001249	Intellectual disability
OMIM:617126	TAF6	6878	HP:0002465	Poor speech
OMIM:615028	EXPH5	23086	HP:0001030	Fragile skin
OMIM:615028	EXPH5	23086	HP:0025092	Epidermal acanthosis
OMIM:615028	EXPH5	23086	HP:0000962	Hyperkeratosis
OMIM:615028	EXPH5	23086	HP:0000007	Autosomal recessive inheritance
OMIM:122860	SOST	50964	HP:0000648	Optic atrophy
OMIM:122860	SOST	50964	HP:0000365	Hearing impairment
OMIM:122860	SOST	50964	HP:0000316	Hypertelorism
OMIM:122860	SOST	50964	HP:0003676	Progressive
OMIM:122860	SOST	50964	HP:0000900	Thickened ribs
OMIM:122860	SOST	50964	HP:0005464	Craniofacial osteosclerosis
OMIM:122860	SOST	50964	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:122860	SOST	50964	HP:0005280	Depressed nasal bridge
OMIM:122860	SOST	50964	HP:0000452	Choanal stenosis
OMIM:122860	SOST	50964	HP:0003155	Elevated alkaline phosphatase
OMIM:122860	SOST	50964	HP:0000256	Macrocephaly
OMIM:122860	SOST	50964	HP:0003034	Diaphyseal sclerosis
OMIM:122860	SOST	50964	HP:0004322	Short stature
OMIM:122860	SOST	50964	HP:0002315	Headache
OMIM:122860	SOST	50964	HP:0003593	Infantile onset
OMIM:122860	SOST	50964	HP:0011120	Concave nasal ridge
OMIM:122860	SOST	50964	HP:0000529	Progressive visual loss
OMIM:122860	SOST	50964	HP:0004493	Craniofacial hyperostosis
OMIM:122860	SOST	50964	HP:0000303	Mandibular prognathia
OMIM:122860	SOST	50964	HP:0000006	Autosomal dominant inheritance
OMIM:122860	SOST	50964	HP:0000431	Wide nasal bridge
OMIM:122860	SOST	50964	HP:0001085	Papilledema
OMIM:122860	SOST	50964	HP:0002516	Increased intracranial pressure
OMIM:122860	SOST	50964	HP:0001349	Facial diplegia
OMIM:300244	FLNA	2316	HP:0000508	Ptosis
OMIM:300244	FLNA	2316	HP:0000316	Hypertelorism
OMIM:300244	FLNA	2316	HP:0001000	Abnormality of skin pigmentation
OMIM:300244	FLNA	2316	HP:0001831	Short toe
OMIM:300244	FLNA	2316	HP:0001156	Brachydactyly
OMIM:300244	FLNA	2316	HP:0011355	Localized skin lesion
OMIM:300244	FLNA	2316	HP:0010675	Abnormal foot bone ossification
OMIM:300244	FLNA	2316	HP:0100490	Camptodactyly of finger
OMIM:300244	FLNA	2316	HP:0001863	Toe clinodactyly
OMIM:300244	FLNA	2316	HP:0010660	Abnormal hand bone ossification
OMIM:300244	FLNA	2316	HP:0000190	Abnormality of oral frenula
OMIM:300244	FLNA	2316	HP:0010614	Fibroma
OMIM:300244	FLNA	2316	HP:0000272	Malar flattening
OMIM:300244	FLNA	2316	HP:0000612	Iris coloboma
OMIM:300244	FLNA	2316	HP:0002828	Multiple joint contractures
OMIM:300244	FLNA	2316	HP:0001836	Camptodactyly of toe
OMIM:300244	FLNA	2316	HP:0000369	Low-set ears
ORPHA:88644	SYNE1	23345	HP:0001251	Ataxia
OMIM:615493	ANK3	288	HP:0002342	Intellectual disability, moderate
OMIM:615493	ANK3	288	HP:0000718	Aggressive behavior
OMIM:615493	ANK3	288	HP:0000752	Hyperactivity
OMIM:615493	ANK3	288	HP:0001257	Spasticity
OMIM:615493	ANK3	288	HP:0001290	Generalized hypotonia
OMIM:615493	ANK3	288	HP:0001249	Intellectual disability
OMIM:615493	ANK3	288	HP:0003763	Bruxism
OMIM:615493	ANK3	288	HP:0000007	Autosomal recessive inheritance
OMIM:164400	ATXN1	6310	HP:0003581	Adult onset
OMIM:164400	ATXN1	6310	HP:0002168	Scanning speech
OMIM:164400	ATXN1	6310	HP:0001283	Bulbar palsy
OMIM:164400	ATXN1	6310	HP:0002075	Dysdiadochokinesis
OMIM:164400	ATXN1	6310	HP:0002503	Spinocerebellar tract degeneration
OMIM:164400	ATXN1	6310	HP:0002542	Olivopontocerebellar atrophy
OMIM:164400	ATXN1	6310	HP:0002198	Dilated fourth ventricle
OMIM:164400	ATXN1	6310	HP:0000640	Gaze-evoked nystagmus
OMIM:164400	ATXN1	6310	HP:0001310	Dysmetria
OMIM:164400	ATXN1	6310	HP:0000543	Optic disc pallor
OMIM:164400	ATXN1	6310	HP:0001151	Impaired horizontal smooth pursuit
OMIM:164400	ATXN1	6310	HP:0001284	Areflexia
OMIM:164400	ATXN1	6310	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:164400	ATXN1	6310	HP:0007006	Dorsal column degeneration
OMIM:164400	ATXN1	6310	HP:0000641	Dysmetric saccades
OMIM:164400	ATXN1	6310	HP:0007263	Spinocerebellar atrophy
OMIM:164400	ATXN1	6310	HP:0001257	Spasticity
OMIM:164400	ATXN1	6310	HP:0002015	Dysphagia
OMIM:164400	ATXN1	6310	HP:0002078	Truncal ataxia
OMIM:164400	ATXN1	6310	HP:0001260	Dysarthria
OMIM:164400	ATXN1	6310	HP:0002073	Progressive cerebellar ataxia
OMIM:164400	ATXN1	6310	HP:0000514	Slow saccadic eye movements
OMIM:164400	ATXN1	6310	HP:0002070	Limb ataxia
OMIM:164400	ATXN1	6310	HP:0003693	Distal amyotrophy
OMIM:164400	ATXN1	6310	HP:0002495	Impaired vibratory sensation
OMIM:164400	ATXN1	6310	HP:0100543	Cognitive impairment
OMIM:164400	ATXN1	6310	HP:0000623	Supranuclear ophthalmoplegia
OMIM:164400	ATXN1	6310	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:164400	ATXN1	6310	HP:0000648	Optic atrophy
OMIM:164400	ATXN1	6310	HP:0001290	Generalized hypotonia
OMIM:164400	ATXN1	6310	HP:0000006	Autosomal dominant inheritance
OMIM:164400	ATXN1	6310	HP:0003487	Babinski sign
OMIM:164400	ATXN1	6310	HP:0002072	Chorea
OMIM:164400	ATXN1	6310	HP:0001347	Hyperreflexia
OMIM:164400	ATXN1	6310	HP:0003744	Genetic anticipation with paternal anticipation bias
OMIM:254450	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:254450	MPL	4352	HP:0001428	Somatic mutation
OMIM:254450	MPL	4352	HP:0005547	Myeloproliferative disorder
OMIM:254450	MPL	4352	HP:0011974	Myelofibrosis
OMIM:254450	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:254450	SH2B3	10019	HP:0001428	Somatic mutation
OMIM:254450	SH2B3	10019	HP:0005547	Myeloproliferative disorder
OMIM:254450	SH2B3	10019	HP:0011974	Myelofibrosis
OMIM:254450	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:254450	JAK2	3717	HP:0001428	Somatic mutation
OMIM:254450	JAK2	3717	HP:0005547	Myeloproliferative disorder
OMIM:254450	JAK2	3717	HP:0011974	Myelofibrosis
OMIM:254450	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:254450	CALR	811	HP:0001428	Somatic mutation
OMIM:254450	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:254450	CALR	811	HP:0011974	Myelofibrosis
ORPHA:66629	KIF1BP	26128	HP:0001249	Intellectual disability
ORPHA:66629	KIF1BP	26128	HP:0001252	Muscular hypotonia
ORPHA:66629	KIF1BP	26128	HP:0000508	Ptosis
ORPHA:66629	KIF1BP	26128	HP:0004322	Short stature
ORPHA:66629	KIF1BP	26128	HP:0000612	Iris coloboma
ORPHA:66629	KIF1BP	26128	HP:0002251	Aganglionic megacolon
ORPHA:66629	KIF1BP	26128	HP:0000175	Cleft palate
ORPHA:66629	KIF1BP	26128	HP:0001328	Specific learning disability
ORPHA:66629	KIF1BP	26128	HP:0000252	Microcephaly
OMIM:614832	ODAPH	152816	HP:0000705	Amelogenesis imperfecta
OMIM:614832	ODAPH	152816	HP:0006297	Hypoplasia of dental enamel
OMIM:614832	ODAPH	152816	HP:0000007	Autosomal recessive inheritance
OMIM:614832	ODAPH	152816	HP:0006285	Hypomineralization of enamel
OMIM:615663	TBC1D20	128637	HP:0000490	Deeply set eye
OMIM:615663	TBC1D20	128637	HP:0000519	Congenital cataract
OMIM:615663	TBC1D20	128637	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615663	TBC1D20	128637	HP:0005484	Postnatal microcephaly
OMIM:615663	TBC1D20	128637	HP:0000508	Ptosis
OMIM:615663	TBC1D20	128637	HP:0002120	Cerebral cortical atrophy
OMIM:615663	TBC1D20	128637	HP:0000294	Low anterior hairline
OMIM:615663	TBC1D20	128637	HP:0002510	Spastic tetraplegia
OMIM:615663	TBC1D20	128637	HP:0003199	Decreased muscle mass
OMIM:615663	TBC1D20	128637	HP:0000568	Microphthalmia
OMIM:615663	TBC1D20	128637	HP:0000046	Scrotal hypoplasia
OMIM:615663	TBC1D20	128637	HP:0000501	Glaucoma
OMIM:615663	TBC1D20	128637	HP:0000054	Micropenis
OMIM:615663	TBC1D20	128637	HP:0010864	Intellectual disability, severe
OMIM:615663	TBC1D20	128637	HP:0000007	Autosomal recessive inheritance
OMIM:615663	TBC1D20	128637	HP:0008850	Severe postnatal growth retardation
OMIM:615663	TBC1D20	128637	HP:0000482	Microcornea
OMIM:615663	TBC1D20	128637	HP:0001371	Flexion contracture
OMIM:615663	TBC1D20	128637	HP:0000648	Optic atrophy
OMIM:615663	TBC1D20	128637	HP:0000431	Wide nasal bridge
OMIM:615663	TBC1D20	128637	HP:0001272	Cerebellar atrophy
OMIM:615663	TBC1D20	128637	HP:0007095	Frontoparietal polymicrogyria
OMIM:615663	TBC1D20	128637	HP:0008734	Decreased testicular size
OMIM:615663	TBC1D20	128637	HP:0000160	Narrow mouth
OMIM:615663	TBC1D20	128637	HP:0000028	Cryptorchidism
OMIM:616494	POLR1C	9533	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616494	POLR1C	9533	HP:0002415	Leukodystrophy
OMIM:616494	POLR1C	9533	HP:0000007	Autosomal recessive inheritance
OMIM:616494	POLR1C	9533	HP:0001249	Intellectual disability
OMIM:616494	POLR1C	9533	HP:0001263	Global developmental delay
OMIM:616494	POLR1C	9533	HP:0001337	Tremor
OMIM:305000	DKC1	1736	HP:0000498	Blepharitis
OMIM:305000	DKC1	1736	HP:0006480	Premature loss of teeth
OMIM:305000	DKC1	1736	HP:0001511	Intrauterine growth retardation
OMIM:305000	DKC1	1736	HP:0009926	Increased lacrimation
OMIM:305000	DKC1	1736	HP:0000975	Hyperhidrosis
OMIM:305000	DKC1	1736	HP:0001596	Alopecia
OMIM:305000	DKC1	1736	HP:0002721	Immunodeficiency
OMIM:305000	DKC1	1736	HP:0000028	Cryptorchidism
OMIM:305000	DKC1	1736	HP:0000509	Conjunctivitis
OMIM:305000	DKC1	1736	HP:0000252	Microcephaly
OMIM:305000	DKC1	1736	HP:0001419	X-linked recessive inheritance
OMIM:305000	DKC1	1736	HP:0000939	Osteoporosis
OMIM:305000	DKC1	1736	HP:0008734	Decreased testicular size
OMIM:305000	DKC1	1736	HP:0000486	Strabismus
OMIM:305000	DKC1	1736	HP:0002091	Restrictive ventilatory defect
OMIM:305000	DKC1	1736	HP:0002165	Pterygium of nails
OMIM:305000	DKC1	1736	HP:0002860	Squamous cell carcinoma
OMIM:305000	DKC1	1736	HP:0000648	Optic atrophy
OMIM:305000	DKC1	1736	HP:0001903	Anemia
OMIM:305000	DKC1	1736	HP:0005212	Anal mucosal leukoplakia
OMIM:305000	DKC1	1736	HP:0001807	Ridged nail
OMIM:305000	DKC1	1736	HP:0002216	Premature graying of hair
OMIM:305000	DKC1	1736	HP:0001876	Pancytopenia
OMIM:305000	DKC1	1736	HP:0004808	Acute myeloid leukemia
OMIM:305000	DKC1	1736	HP:0012189	Hodgkin lymphoma
OMIM:305000	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:305000	DKC1	1736	HP:0007427	Reticulated skin pigmentation
OMIM:305000	DKC1	1736	HP:0002863	Myelodysplasia
OMIM:305000	DKC1	1736	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	DKC1	1736	HP:0000518	Cataract
OMIM:305000	DKC1	1736	HP:0002745	Oral leukoplakia
OMIM:305000	DKC1	1736	HP:0000085	Horseshoe kidney
OMIM:305000	DKC1	1736	HP:0000653	Sparse eyelashes
OMIM:305000	DKC1	1736	HP:0001249	Intellectual disability
OMIM:305000	DKC1	1736	HP:0001741	Phimosis
OMIM:305000	DKC1	1736	HP:0000047	Hypospadias
OMIM:305000	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:305000	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:305000	DKC1	1736	HP:0000670	Carious teeth
OMIM:305000	DKC1	1736	HP:0001394	Cirrhosis
OMIM:305000	DKC1	1736	HP:0001882	Leukopenia
OMIM:305000	DKC1	1736	HP:0004322	Short stature
OMIM:305000	DKC1	1736	HP:0001809	Split nail
OMIM:305000	DKC1	1736	HP:0004334	Dermal atrophy
OMIM:305000	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:305000	DKC1	1736	HP:0002043	Esophageal stricture
OMIM:305000	DKC1	1736	HP:0008661	Urethral stenosis
OMIM:613661	ALG11	440138	HP:0002179	Opisthotonus
OMIM:613661	ALG11	440138	HP:0000007	Autosomal recessive inheritance
OMIM:613661	ALG11	440138	HP:0002013	Vomiting
OMIM:613661	ALG11	440138	HP:0005968	Temperature instability
OMIM:613661	ALG11	440138	HP:0001263	Global developmental delay
OMIM:613661	ALG11	440138	HP:0003593	Infantile onset
OMIM:613661	ALG11	440138	HP:0003642	Type I transferrin isoform profile
OMIM:613661	ALG11	440138	HP:0001319	Neonatal hypotonia
OMIM:613661	ALG11	440138	HP:0001250	Seizures
OMIM:613661	ALG11	440138	HP:0011968	Feeding difficulties
OMIM:613661	ALG11	440138	HP:0001344	Absent speech
OMIM:613661	ALG11	440138	HP:0000486	Strabismus
ORPHA:79283	MMADHC	27249	HP:0000708	Behavioral abnormality
ORPHA:79283	MMADHC	27249	HP:0001249	Intellectual disability
ORPHA:79283	MMADHC	27249	HP:0001288	Gait disturbance
ORPHA:79283	MMADHC	27249	HP:0012378	Fatigue
ORPHA:79283	MMADHC	27249	HP:0001254	Lethargy
ORPHA:79283	MMADHC	27249	HP:0000980	Pallor
ORPHA:79283	MMADHC	27249	HP:0001263	Global developmental delay
ORPHA:79283	MMADHC	27249	HP:0001250	Seizures
ORPHA:79283	MMADHC	27249	HP:0002039	Anorexia
ORPHA:79283	MMADHC	27249	HP:0001508	Failure to thrive
ORPHA:79283	MMADHC	27249	HP:0001980	Megaloblastic bone marrow
OMIM:263200	PKHD1	5314	HP:0002009	Potter facies
OMIM:263200	PKHD1	5314	HP:0001405	Periportal fibrosis
OMIM:263200	PKHD1	5314	HP:0005576	Tubulointerstitial fibrosis
OMIM:263200	PKHD1	5314	HP:0000007	Autosomal recessive inheritance
OMIM:263200	PKHD1	5314	HP:0002240	Hepatomegaly
OMIM:263200	PKHD1	5314	HP:0000107	Renal cyst
OMIM:263200	PKHD1	5314	HP:0005564	Absence of renal corticomedullary differentiation
OMIM:263200	PKHD1	5314	HP:0001737	Pancreatic cysts
OMIM:263200	PKHD1	5314	HP:0001744	Splenomegaly
OMIM:263200	PKHD1	5314	HP:0000113	Polycystic kidney dysplasia
OMIM:263200	PKHD1	5314	HP:0001562	Oligohydramnios
OMIM:263200	PKHD1	5314	HP:0001944	Dehydration
OMIM:263200	PKHD1	5314	HP:0000105	Enlarged kidney
OMIM:263200	PKHD1	5314	HP:0002040	Esophageal varix
OMIM:263200	PKHD1	5314	HP:0000083	Renal insufficiency
OMIM:263200	PKHD1	5314	HP:0001407	Hepatic cysts
OMIM:263200	PKHD1	5314	HP:0001409	Portal hypertension
OMIM:263200	PKHD1	5314	HP:0002089	Pulmonary hypoplasia
OMIM:616868	SLC9A3	6550	HP:0005208	Secretory diarrhea
OMIM:616868	SLC9A3	6550	HP:0003270	Abdominal distention
OMIM:616868	SLC9A3	6550	HP:0000007	Autosomal recessive inheritance
OMIM:614662	HSD11B1	3290	HP:0000006	Autosomal dominant inheritance
OMIM:614265	ACSF3	197322	HP:0002013	Vomiting
OMIM:614265	ACSF3	197322	HP:0011169	Generalized clonic seizures
OMIM:614265	ACSF3	197322	HP:0001993	Ketoacidosis
OMIM:614265	ACSF3	197322	HP:0001508	Failure to thrive
OMIM:614265	ACSF3	197322	HP:0001944	Dehydration
OMIM:614265	ACSF3	197322	HP:0012120	Methylmalonic aciduria
OMIM:614265	ACSF3	197322	HP:0000007	Autosomal recessive inheritance
OMIM:614265	ACSF3	197322	HP:0001263	Global developmental delay
OMIM:614265	ACSF3	197322	HP:0002014	Diarrhea
OMIM:612937	DPM3	54344	HP:0001644	Dilated cardiomyopathy
OMIM:612937	DPM3	54344	HP:0001324	Muscle weakness
OMIM:612937	DPM3	54344	HP:0003642	Type I transferrin isoform profile
OMIM:612937	DPM3	54344	HP:0002515	Waddling gait
OMIM:612937	DPM3	54344	HP:0003557	Increased variability in muscle fiber diameter
OMIM:612937	DPM3	54344	HP:0002910	Elevated hepatic transaminases
OMIM:612937	DPM3	54344	HP:0000007	Autosomal recessive inheritance
OMIM:612937	DPM3	54344	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612937	DPM3	54344	HP:0003805	Rimmed vacuoles
OMIM:131440	PDGFRB	5159	HP:0006782	Malignant eosinophil proliferation
OMIM:131440	PDGFRB	5159	HP:0001880	Eosinophilia
OMIM:131440	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:131440	PDGFRB	5159	HP:0005547	Myeloproliferative disorder
OMIM:182410	ADA2	51816	HP:0002301	Hemiplegia
OMIM:182410	ADA2	51816	HP:0000965	Cutis marmorata
OMIM:182410	ADA2	51816	HP:0001297	Stroke
OMIM:182410	ADA2	51816	HP:0003676	Progressive
OMIM:182410	ADA2	51816	HP:0010628	Facial palsy
OMIM:182410	ADA2	51816	HP:0000007	Autosomal recessive inheritance
OMIM:182410	ADA2	51816	HP:0001250	Seizures
OMIM:182410	ADA2	51816	HP:0001337	Tremor
OMIM:182410	ADA2	51816	HP:0001268	Mental deterioration
OMIM:182410	ADA2	51816	HP:0003745	Sporadic
OMIM:182410	ADA2	51816	HP:0000822	Hypertension
OMIM:182410	ADA2	51816	HP:0001260	Dysarthria
OMIM:182410	ADA2	51816	HP:0003613	Antiphospholipid antibody positivity
OMIM:182410	ADA2	51816	HP:0000006	Autosomal dominant inheritance
OMIM:182410	ADA2	51816	HP:0002315	Headache
OMIM:400045	SRY	6736	HP:0010459	True hermaphroditism
OMIM:400045	SRY	6736	HP:0001450	Y-linked inheritance
OMIM:400045	SRY	6736	HP:0012245	Sex reversal
OMIM:615833	NECAP1	25977	HP:0000007	Autosomal recessive inheritance
OMIM:615833	NECAP1	25977	HP:0001290	Generalized hypotonia
OMIM:615833	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:615833	NECAP1	25977	HP:0011968	Feeding difficulties
OMIM:615833	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:615833	NECAP1	25977	HP:0001558	Decreased fetal movement
OMIM:615833	NECAP1	25977	HP:0008936	Muscular hypotonia of the trunk
OMIM:602347	ABCB4	5244	HP:0000952	Jaundice
OMIM:602347	ABCB4	5244	HP:0000007	Autosomal recessive inheritance
OMIM:602347	ABCB4	5244	HP:0001408	Bile duct proliferation
OMIM:602347	ABCB4	5244	HP:0002910	Elevated hepatic transaminases
OMIM:602347	ABCB4	5244	HP:0001744	Splenomegaly
OMIM:602347	ABCB4	5244	HP:0000989	Pruritus
OMIM:602347	ABCB4	5244	HP:0001425	Heterogeneous
OMIM:602347	ABCB4	5244	HP:0002024	Malabsorption
OMIM:602347	ABCB4	5244	HP:0001406	Intrahepatic cholestasis
OMIM:602347	ABCB4	5244	HP:0003593	Infantile onset
OMIM:602347	ABCB4	5244	HP:0006580	Portal fibrosis
OMIM:602347	ABCB4	5244	HP:0001394	Cirrhosis
OMIM:602347	ABCB4	5244	HP:0002014	Diarrhea
OMIM:602347	ABCB4	5244	HP:0002240	Hepatomegaly
OMIM:611369	PIP5K1C	23396	HP:0002804	Arthrogryposis multiplex congenita
OMIM:611369	PIP5K1C	23396	HP:0000007	Autosomal recessive inheritance
OMIM:611369	PIP5K1C	23396	HP:0002093	Respiratory insufficiency
OMIM:611369	PIP5K1C	23396	HP:0003202	Skeletal muscle atrophy
OMIM:611369	PIP5K1C	23396	HP:0003811	Neonatal death
OMIM:614157	FZD6	8323	HP:0012542	Onychauxis
OMIM:614157	FZD6	8323	HP:0001806	Onycholysis
OMIM:614157	FZD6	8323	HP:0000007	Autosomal recessive inheritance
ORPHA:93333	TBX15	6913	HP:0000365	Hearing impairment
ORPHA:93333	TBX15	6913	HP:0000470	Short neck
ORPHA:93333	TBX15	6913	HP:0003943	Abnormality of the joint spaces of the elbow
ORPHA:93333	TBX15	6913	HP:0002007	Frontal bossing
ORPHA:93333	TBX15	6913	HP:0002693	Abnormality of the skull base
ORPHA:93333	TBX15	6913	HP:0003097	Short femur
ORPHA:93333	TBX15	6913	HP:0000402	Stenosis of the external auditory canal
ORPHA:93333	TBX15	6913	HP:0000256	Macrocephaly
ORPHA:93333	TBX15	6913	HP:0002162	Low posterior hairline
ORPHA:93333	TBX15	6913	HP:0003041	Humeroradial synostosis
ORPHA:93333	TBX15	6913	HP:0000946	Hypoplastic ilia
ORPHA:93333	TBX15	6913	HP:0001156	Brachydactyly
ORPHA:93333	TBX15	6913	HP:0000882	Hypoplastic scapulae
ORPHA:93333	TBX15	6913	HP:0002987	Elbow flexion contracture
ORPHA:93333	TBX15	6913	HP:0001374	Congenital hip dislocation
ORPHA:93333	TBX15	6913	HP:0004322	Short stature
ORPHA:93333	TBX15	6913	HP:0000316	Hypertelorism
ORPHA:93333	TBX15	6913	HP:0000369	Low-set ears
ORPHA:93333	TBX15	6913	HP:0004987	Mesomelic leg shortening
ORPHA:93333	TBX15	6913	HP:0000490	Deeply set eye
ORPHA:93333	TBX15	6913	HP:0000581	Blepharophimosis
ORPHA:93333	TBX15	6913	HP:0000377	Abnormality of the pinna
ORPHA:93333	TBX15	6913	HP:0005989	Redundant neck skin
ORPHA:93333	TBX15	6913	HP:0000486	Strabismus
OMIM:609597	ALX4	60529	HP:0007385	Aplasia cutis congenita of scalp
OMIM:609597	ALX4	60529	HP:0002084	Encephalocele
OMIM:609597	ALX4	60529	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:609597	ALX4	60529	HP:0002697	Parietal foramina
OMIM:609597	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:614900	RPL26	6154	HP:0012130	Abnormality of cells of the erythroid lineage
OMIM:614900	RPL26	6154	HP:0001903	Anemia
OMIM:614900	RPL26	6154	HP:0004322	Short stature
OMIM:614900	RPL26	6154	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL26	6154	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL26	6154	HP:0000175	Cleft palate
OMIM:614900	RPL26	6154	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL26	6154	HP:0006368	Forearm reduction defects
OMIM:614900	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:614900	RPL26	6154	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL26	6154	HP:0001875	Neutropenia
OMIM:614900	RPL26	6154	HP:0000104	Renal agenesis
OMIM:614900	RPL26	6154	HP:0009777	Absent thumb
OMIM:614900	RPL26	6154	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL26	6154	HP:0000492	Abnormality of the eyelid
OMIM:607014	IDUA	3425	HP:0000280	Coarse facial features
OMIM:607014	IDUA	3425	HP:0000212	Gingival overgrowth
OMIM:607014	IDUA	3425	HP:0000256	Macrocephaly
OMIM:607014	IDUA	3425	HP:0002180	Neurodegeneration
OMIM:607014	IDUA	3425	HP:0000470	Short neck
OMIM:607014	IDUA	3425	HP:0004490	Calvarial hyperostosis
OMIM:607014	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:607014	IDUA	3425	HP:0002808	Kyphosis
OMIM:607014	IDUA	3425	HP:0001433	Hepatosplenomegaly
OMIM:607014	IDUA	3425	HP:0001638	Cardiomyopathy
OMIM:607014	IDUA	3425	HP:0002240	Hepatomegaly
OMIM:607014	IDUA	3425	HP:0003311	Hypoplasia of the odontoid process
OMIM:607014	IDUA	3425	HP:0000894	Short clavicles
OMIM:607014	IDUA	3425	HP:0410018	Recurrent ear infections
OMIM:607014	IDUA	3425	HP:0001249	Intellectual disability
OMIM:607014	IDUA	3425	HP:0008802	Hypoplasia of the femoral head
OMIM:607014	IDUA	3425	HP:0000455	Broad nasal tip
OMIM:607014	IDUA	3425	HP:0011400	Abnormal CNS myelination
OMIM:607014	IDUA	3425	HP:0100790	Hernia
OMIM:607014	IDUA	3425	HP:0001371	Flexion contracture
OMIM:607014	IDUA	3425	HP:0005019	Diaphyseal thickening
OMIM:607014	IDUA	3425	HP:0000691	Microdontia
OMIM:607014	IDUA	3425	HP:0001263	Global developmental delay
OMIM:607014	IDUA	3425	HP:0030812	Enlarged tonsils
OMIM:607014	IDUA	3425	HP:0002869	Flared iliac wings
OMIM:607014	IDUA	3425	HP:0004322	Short stature
OMIM:607014	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607014	IDUA	3425	HP:0002344	Progressive neurologic deterioration
OMIM:607014	IDUA	3425	HP:0012185	Constrictive median neuropathy
OMIM:607014	IDUA	3425	HP:0000293	Full cheeks
OMIM:607014	IDUA	3425	HP:0000943	Dysostosis multiplex
OMIM:607014	IDUA	3425	HP:0002673	Coxa valga
OMIM:607014	IDUA	3425	HP:0001537	Umbilical hernia
OMIM:607014	IDUA	3425	HP:0007759	Opacification of the corneal stroma
OMIM:607014	IDUA	3425	HP:0007957	Corneal opacity
OMIM:607014	IDUA	3425	HP:0001744	Splenomegaly
OMIM:607014	IDUA	3425	HP:0003541	Urinary glycosaminoglycan excretion
OMIM:607014	IDUA	3425	HP:0012471	Thick vermilion border
OMIM:607014	IDUA	3425	HP:0000238	Hydrocephalus
OMIM:607014	IDUA	3425	HP:0001387	Joint stiffness
OMIM:607014	IDUA	3425	HP:0001007	Hirsutism
OMIM:607014	IDUA	3425	HP:0000023	Inguinal hernia
OMIM:607014	IDUA	3425	HP:0002680	J-shaped sella turcica
OMIM:607014	IDUA	3425	HP:0004586	Biconcave vertebral bodies
OMIM:607330	SC5D	6309	HP:0000007	Autosomal recessive inheritance
OMIM:607330	SC5D	6309	HP:0001290	Generalized hypotonia
OMIM:607330	SC5D	6309	HP:0011877	Increased mean platelet volume
OMIM:607330	SC5D	6309	HP:0200133	Lumbosacral meningocele
OMIM:122880	PAX3	5077	HP:0000272	Malar flattening
OMIM:122880	PAX3	5077	HP:0003196	Short nose
OMIM:122880	PAX3	5077	HP:0000316	Hypertelorism
OMIM:122880	PAX3	5077	HP:0000407	Sensorineural hearing impairment
OMIM:122880	PAX3	5077	HP:0000006	Autosomal dominant inheritance
OMIM:122880	PAX3	5077	HP:0009487	Ulnar deviation of the hand
OMIM:122880	PAX3	5077	HP:0000327	Hypoplasia of the maxilla
OMIM:122880	PAX3	5077	HP:0012368	Flat face
OMIM:611283	ACAD8	27034	HP:0001252	Muscular hypotonia
OMIM:611283	ACAD8	27034	HP:0001903	Anemia
OMIM:611283	ACAD8	27034	HP:0001644	Dilated cardiomyopathy
OMIM:611283	ACAD8	27034	HP:0000007	Autosomal recessive inheritance
OMIM:611283	ACAD8	27034	HP:0003234	Decreased plasma carnitine
OMIM:278750	POLH	5429	HP:0000621	Entropion
OMIM:278750	POLH	5429	HP:0002860	Squamous cell carcinoma
OMIM:278750	POLH	5429	HP:0000992	Cutaneous photosensitivity
OMIM:278750	POLH	5429	HP:0004334	Dermal atrophy
OMIM:278750	POLH	5429	HP:0000007	Autosomal recessive inheritance
OMIM:278750	POLH	5429	HP:0001009	Telangiectasia
OMIM:278750	POLH	5429	HP:0002671	Basal cell carcinoma
OMIM:278750	POLH	5429	HP:0012056	Cutaneous melanoma
OMIM:278750	POLH	5429	HP:0001029	Poikiloderma
OMIM:278750	POLH	5429	HP:0000491	Keratitis
OMIM:278750	POLH	5429	HP:0000656	Ectropion
OMIM:278750	POLH	5429	HP:0000509	Conjunctivitis
OMIM:278750	POLH	5429	HP:0000613	Photophobia
OMIM:615777	XYLT1	64131	HP:0000520	Proptosis
OMIM:615777	XYLT1	64131	HP:0003016	Metaphyseal widening
OMIM:615777	XYLT1	64131	HP:0004233	Advanced ossification of carpal bones
OMIM:615777	XYLT1	64131	HP:0009803	Short phalanx of finger
OMIM:615777	XYLT1	64131	HP:0012368	Flat face
OMIM:615777	XYLT1	64131	HP:0004322	Short stature
OMIM:615777	XYLT1	64131	HP:0000894	Short clavicles
OMIM:615777	XYLT1	64131	HP:0005280	Depressed nasal bridge
OMIM:615777	XYLT1	64131	HP:0010049	Short metacarpal
OMIM:615777	XYLT1	64131	HP:0001388	Joint laxity
OMIM:615777	XYLT1	64131	HP:0000343	Long philtrum
OMIM:615777	XYLT1	64131	HP:0003026	Short long bone
OMIM:615777	XYLT1	64131	HP:0004482	Relative macrocephaly
OMIM:615777	XYLT1	64131	HP:0000007	Autosomal recessive inheritance
OMIM:615777	XYLT1	64131	HP:0000311	Round face
OMIM:615777	XYLT1	64131	HP:0002656	Epiphyseal dysplasia
OMIM:615777	XYLT1	64131	HP:0001249	Intellectual disability
OMIM:100300	ARHGAP31	57514	HP:0002558	Supernumerary nipple
OMIM:100300	ARHGAP31	57514	HP:0002539	Cortical dysplasia
OMIM:100300	ARHGAP31	57514	HP:0000568	Microphthalmia
OMIM:100300	ARHGAP31	57514	HP:0001792	Small nail
OMIM:100300	ARHGAP31	57514	HP:0000565	Esotropia
OMIM:100300	ARHGAP31	57514	HP:0001302	Pachygyria
OMIM:100300	ARHGAP31	57514	HP:0001647	Bicuspid aortic valve
OMIM:100300	ARHGAP31	57514	HP:0001762	Talipes equinovarus
OMIM:100300	ARHGAP31	57514	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	ARHGAP31	57514	HP:0001290	Generalized hypotonia
OMIM:100300	ARHGAP31	57514	HP:0000006	Autosomal dominant inheritance
OMIM:100300	ARHGAP31	57514	HP:0000175	Cleft palate
OMIM:100300	ARHGAP31	57514	HP:0000252	Microcephaly
OMIM:100300	ARHGAP31	57514	HP:0002119	Ventriculomegaly
OMIM:100300	ARHGAP31	57514	HP:0001156	Brachydactyly
OMIM:100300	ARHGAP31	57514	HP:0001642	Pulmonic stenosis
OMIM:100300	ARHGAP31	57514	HP:0004383	Hypoplastic left heart
OMIM:100300	ARHGAP31	57514	HP:0007589	Aplasia cutis congenita on trunk or limbs
OMIM:100300	ARHGAP31	57514	HP:0002084	Encephalocele
OMIM:100300	ARHGAP31	57514	HP:0001629	Ventricular septal defect
OMIM:100300	ARHGAP31	57514	HP:0001249	Intellectual disability
OMIM:100300	ARHGAP31	57514	HP:0002092	Pulmonary arterial hypertension
OMIM:100300	ARHGAP31	57514	HP:0004415	Pulmonary artery stenosis
OMIM:100300	ARHGAP31	57514	HP:0001250	Seizures
OMIM:100300	ARHGAP31	57514	HP:0001263	Global developmental delay
OMIM:100300	ARHGAP31	57514	HP:0030011	Imperforate hymen
OMIM:100300	ARHGAP31	57514	HP:0001631	Atrial septal defect
OMIM:100300	ARHGAP31	57514	HP:0003812	Phenotypic variability
OMIM:100300	ARHGAP31	57514	HP:0002126	Polymicrogyria
OMIM:100300	ARHGAP31	57514	HP:0007590	Aplasia cutis congenita over posterior parietal area
OMIM:100300	ARHGAP31	57514	HP:0006970	Periventricular leukomalacia
OMIM:100300	ARHGAP31	57514	HP:0001596	Alopecia
OMIM:100300	ARHGAP31	57514	HP:0001770	Toe syndactyly
OMIM:100300	ARHGAP31	57514	HP:0001362	Calvarial skull defect
OMIM:100300	ARHGAP31	57514	HP:0000204	Cleft upper lip
OMIM:100300	ARHGAP31	57514	HP:0001650	Aortic valve stenosis
OMIM:100300	ARHGAP31	57514	HP:0000965	Cutis marmorata
OMIM:100300	ARHGAP31	57514	HP:0001636	Tetralogy of Fallot
OMIM:615582	TGFB3	7043	HP:0001382	Joint hypermobility
OMIM:615582	TGFB3	7043	HP:0001763	Pes planus
OMIM:615582	TGFB3	7043	HP:0000520	Proptosis
OMIM:615582	TGFB3	7043	HP:0000218	High palate
OMIM:615582	TGFB3	7043	HP:0002036	Hiatus hernia
OMIM:615582	TGFB3	7043	HP:0000768	Pectus carinatum
OMIM:615582	TGFB3	7043	HP:0000592	Blue sclerae
OMIM:615582	TGFB3	7043	HP:0001653	Mitral regurgitation
OMIM:615582	TGFB3	7043	HP:0000278	Retrognathia
OMIM:615582	TGFB3	7043	HP:0001265	Hyporeflexia
OMIM:615582	TGFB3	7043	HP:0003199	Decreased muscle mass
OMIM:615582	TGFB3	7043	HP:0004322	Short stature
OMIM:615582	TGFB3	7043	HP:0001166	Arachnodactyly
OMIM:615582	TGFB3	7043	HP:0000098	Tall stature
OMIM:615582	TGFB3	7043	HP:0010665	Bilateral coxa valga
OMIM:615582	TGFB3	7043	HP:0002751	Kyphoscoliosis
OMIM:615582	TGFB3	7043	HP:0000175	Cleft palate
OMIM:615582	TGFB3	7043	HP:0000767	Pectus excavatum
OMIM:615582	TGFB3	7043	HP:0000023	Inguinal hernia
OMIM:615582	TGFB3	7043	HP:0001518	Small for gestational age
OMIM:615582	TGFB3	7043	HP:0000193	Bifid uvula
OMIM:615582	TGFB3	7043	HP:0000316	Hypertelorism
OMIM:615582	TGFB3	7043	HP:0000577	Exotropia
OMIM:615582	TGFB3	7043	HP:0012771	Increased arm span
OMIM:615582	TGFB3	7043	HP:0000006	Autosomal dominant inheritance
OMIM:166710	VDR	7421	HP:0000939	Osteoporosis
OMIM:166710	VDR	7421	HP:0000006	Autosomal dominant inheritance
OMIM:308100	STS	412	HP:0000028	Cryptorchidism
OMIM:308100	STS	412	HP:0008064	Ichthyosis
OMIM:308100	STS	412	HP:0007759	Opacification of the corneal stroma
OMIM:308100	STS	412	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:308100	STS	412	HP:0002664	Neoplasm
OMIM:308100	STS	412	HP:0001419	X-linked recessive inheritance
OMIM:308100	STS	412	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:7	CCDC22	28952	HP:0001305	Dandy-Walker malformation
ORPHA:7	CCDC22	28952	HP:0001522	Death in infancy
ORPHA:7	CCDC22	28952	HP:0004322	Short stature
ORPHA:7	CCDC22	28952	HP:0006695	Atrioventricular canal defect
ORPHA:7	CCDC22	28952	HP:0001629	Ventricular septal defect
ORPHA:7	CCDC22	28952	HP:0001650	Aortic valve stenosis
ORPHA:7	CCDC22	28952	HP:0002705	High, narrow palate
ORPHA:7	CCDC22	28952	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHA:7	CCDC22	28952	HP:0003196	Short nose
ORPHA:7	CCDC22	28952	HP:0002808	Kyphosis
ORPHA:7	CCDC22	28952	HP:0000369	Low-set ears
ORPHA:7	CCDC22	28952	HP:0000494	Downslanted palpebral fissures
ORPHA:7	CCDC22	28952	HP:0002167	Neurological speech impairment
ORPHA:7	CCDC22	28952	HP:0000269	Prominent occiput
ORPHA:7	CCDC22	28952	HP:0001642	Pulmonic stenosis
ORPHA:7	CCDC22	28952	HP:0001633	Abnormality of the mitral valve
ORPHA:7	CCDC22	28952	HP:0000175	Cleft palate
ORPHA:7	CCDC22	28952	HP:0005280	Depressed nasal bridge
ORPHA:7	CCDC22	28952	HP:0002205	Recurrent respiratory infections
ORPHA:7	CCDC22	28952	HP:0004383	Hypoplastic left heart
ORPHA:7	CCDC22	28952	HP:0000316	Hypertelorism
ORPHA:7	CCDC22	28952	HP:0002650	Scoliosis
ORPHA:7	CCDC22	28952	HP:0001263	Global developmental delay
ORPHA:7	CCDC22	28952	HP:0000238	Hydrocephalus
ORPHA:7	CCDC22	28952	HP:0001252	Muscular hypotonia
ORPHA:7	CCDC22	28952	HP:0000431	Wide nasal bridge
ORPHA:7	CCDC22	28952	HP:0001631	Atrial septal defect
ORPHA:7	CCDC22	28952	HP:0000256	Macrocephaly
ORPHA:7	CCDC22	28952	HP:0002007	Frontal bossing
ORPHA:7	CCDC22	28952	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:7	CCDC22	28952	HP:0001636	Tetralogy of Fallot
ORPHA:7	CCDC22	28952	HP:0001702	Abnormality of the tricuspid valve
ORPHA:7	CCDC22	28952	HP:0001249	Intellectual disability
ORPHA:7	WASHC5	9897	HP:0001305	Dandy-Walker malformation
ORPHA:7	WASHC5	9897	HP:0001522	Death in infancy
ORPHA:7	WASHC5	9897	HP:0004322	Short stature
ORPHA:7	WASHC5	9897	HP:0006695	Atrioventricular canal defect
ORPHA:7	WASHC5	9897	HP:0001629	Ventricular septal defect
ORPHA:7	WASHC5	9897	HP:0001650	Aortic valve stenosis
ORPHA:7	WASHC5	9897	HP:0002705	High, narrow palate
ORPHA:7	WASHC5	9897	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHA:7	WASHC5	9897	HP:0003196	Short nose
ORPHA:7	WASHC5	9897	HP:0002808	Kyphosis
ORPHA:7	WASHC5	9897	HP:0000369	Low-set ears
ORPHA:7	WASHC5	9897	HP:0000494	Downslanted palpebral fissures
ORPHA:7	WASHC5	9897	HP:0002167	Neurological speech impairment
ORPHA:7	WASHC5	9897	HP:0000269	Prominent occiput
ORPHA:7	WASHC5	9897	HP:0001642	Pulmonic stenosis
ORPHA:7	WASHC5	9897	HP:0001633	Abnormality of the mitral valve
ORPHA:7	WASHC5	9897	HP:0000175	Cleft palate
ORPHA:7	WASHC5	9897	HP:0005280	Depressed nasal bridge
ORPHA:7	WASHC5	9897	HP:0002205	Recurrent respiratory infections
ORPHA:7	WASHC5	9897	HP:0004383	Hypoplastic left heart
ORPHA:7	WASHC5	9897	HP:0000316	Hypertelorism
ORPHA:7	WASHC5	9897	HP:0002650	Scoliosis
ORPHA:7	WASHC5	9897	HP:0001263	Global developmental delay
ORPHA:7	WASHC5	9897	HP:0000238	Hydrocephalus
ORPHA:7	WASHC5	9897	HP:0001252	Muscular hypotonia
ORPHA:7	WASHC5	9897	HP:0000431	Wide nasal bridge
ORPHA:7	WASHC5	9897	HP:0001631	Atrial septal defect
ORPHA:7	WASHC5	9897	HP:0000256	Macrocephaly
ORPHA:7	WASHC5	9897	HP:0002007	Frontal bossing
ORPHA:7	WASHC5	9897	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:7	WASHC5	9897	HP:0001636	Tetralogy of Fallot
ORPHA:7	WASHC5	9897	HP:0001702	Abnormality of the tricuspid valve
ORPHA:7	WASHC5	9897	HP:0001249	Intellectual disability
OMIM:242500	ABCA12	26154	HP:0009381	Short finger
OMIM:242500	ABCA12	26154	HP:0002063	Rigidity
OMIM:242500	ABCA12	26154	HP:0001622	Premature birth
OMIM:242500	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242500	ABCA12	26154	HP:0000232	Everted lower lip vermilion
OMIM:242500	ABCA12	26154	HP:0000656	Ectropion
OMIM:242500	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:242500	ABCA12	26154	HP:0000520	Proptosis
OMIM:613804	CDT1	81620	HP:0003561	Birth length less than 3rd percentile
OMIM:613804	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:613804	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:613804	CDT1	81620	HP:0006443	Patellar aplasia
OMIM:613804	CDT1	81620	HP:0002097	Emphysema
OMIM:613804	CDT1	81620	HP:0000347	Micrognathia
OMIM:613804	CDT1	81620	HP:0002816	Genu recurvatum
OMIM:613804	CDT1	81620	HP:0000028	Cryptorchidism
OMIM:613804	CDT1	81620	HP:0000895	Lateral clavicle hook
OMIM:613804	CDT1	81620	HP:0000160	Narrow mouth
OMIM:613804	CDT1	81620	HP:0000179	Thick lower lip vermilion
OMIM:613804	CDT1	81620	HP:0008551	Microtia
OMIM:613804	CDT1	81620	HP:0011968	Feeding difficulties
OMIM:613804	CDT1	81620	HP:0000252	Microcephaly
OMIM:613804	CDT1	81620	HP:0001508	Failure to thrive
OMIM:613804	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:613804	CDT1	81620	HP:0003100	Slender long bone
OMIM:613804	CDT1	81620	HP:0003187	Breast hypoplasia
OMIM:613804	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	CDT1	81620	HP:0000369	Low-set ears
OMIM:616669	IFNAR2	3455	HP:0000007	Autosomal recessive inheritance
OMIM:613108	CLEC7A	64581	HP:0012204	Recurrent vulvovaginal candidiasis
OMIM:613108	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:613108	CLEC7A	64581	HP:0012203	Onychomycosis
OMIM:612631	AK1	203	HP:0000007	Autosomal recessive inheritance
OMIM:612631	AK1	203	HP:0001878	Hemolytic anemia
OMIM:248800	SIL1	64374	HP:0001249	Intellectual disability
OMIM:248800	SIL1	64374	HP:0001252	Muscular hypotonia
OMIM:248800	SIL1	64374	HP:0001508	Failure to thrive
OMIM:248800	SIL1	64374	HP:0002066	Gait ataxia
OMIM:248800	SIL1	64374	HP:0000519	Congenital cataract
OMIM:248800	SIL1	64374	HP:0000486	Strabismus
OMIM:248800	SIL1	64374	HP:0003593	Infantile onset
OMIM:248800	SIL1	64374	HP:0010049	Short metacarpal
OMIM:248800	SIL1	64374	HP:0001763	Pes planus
OMIM:248800	SIL1	64374	HP:0003202	Skeletal muscle atrophy
OMIM:248800	SIL1	64374	HP:0003198	Myopathy
OMIM:248800	SIL1	64374	HP:0002808	Kyphosis
OMIM:248800	SIL1	64374	HP:0000252	Microcephaly
OMIM:248800	SIL1	64374	HP:0000639	Nystagmus
OMIM:248800	SIL1	64374	HP:0001371	Flexion contracture
OMIM:248800	SIL1	64374	HP:0002650	Scoliosis
OMIM:248800	SIL1	64374	HP:0001290	Generalized hypotonia
OMIM:248800	SIL1	64374	HP:0004322	Short stature
OMIM:248800	SIL1	64374	HP:0002070	Limb ataxia
OMIM:248800	SIL1	64374	HP:0000815	Hypergonadotropic hypogonadism
OMIM:248800	SIL1	64374	HP:0001260	Dysarthria
OMIM:248800	SIL1	64374	HP:0003236	Elevated serum creatine phosphokinase
OMIM:248800	SIL1	64374	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:248800	SIL1	64374	HP:0003323	Progressive muscle weakness
OMIM:248800	SIL1	64374	HP:0010743	Short metatarsal
OMIM:248800	SIL1	64374	HP:0002967	Cubitus valgus
OMIM:248800	SIL1	64374	HP:0001257	Spasticity
OMIM:248800	SIL1	64374	HP:0002673	Coxa valga
OMIM:248800	SIL1	64374	HP:0008278	Cerebellar cortical atrophy
OMIM:248800	SIL1	64374	HP:0000007	Autosomal recessive inheritance
OMIM:248800	SIL1	64374	HP:0001263	Global developmental delay
ORPHA:1465	ARID1A	8289	HP:0004322	Short stature
ORPHA:1465	ARID1A	8289	HP:0005692	Joint hyperflexibility
ORPHA:1465	ARID1A	8289	HP:0009882	Short distal phalanx of finger
ORPHA:1465	ARID1A	8289	HP:0001252	Muscular hypotonia
ORPHA:1465	ARID1A	8289	HP:0001511	Intrauterine growth retardation
ORPHA:1465	ARID1A	8289	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	ARID1A	8289	HP:0001305	Dandy-Walker malformation
ORPHA:1465	ARID1A	8289	HP:0000574	Thick eyebrow
ORPHA:1465	ARID1A	8289	HP:0002217	Slow-growing hair
ORPHA:1465	ARID1A	8289	HP:0003042	Elbow dislocation
ORPHA:1465	ARID1A	8289	HP:0000365	Hearing impairment
ORPHA:1465	ARID1A	8289	HP:0002230	Generalized hirsutism
ORPHA:1465	ARID1A	8289	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	ARID1A	8289	HP:0000179	Thick lower lip vermilion
ORPHA:1465	ARID1A	8289	HP:0000154	Wide mouth
ORPHA:1465	ARID1A	8289	HP:0002205	Recurrent respiratory infections
ORPHA:1465	ARID1A	8289	HP:0000164	Abnormality of the dentition
ORPHA:1465	ARID1A	8289	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	ARID1A	8289	HP:0000280	Coarse facial features
ORPHA:1465	ARID1A	8289	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	ARID1A	8289	HP:0000457	Depressed nasal ridge
ORPHA:1465	ARID1A	8289	HP:0001263	Global developmental delay
ORPHA:1465	ARID1A	8289	HP:0001249	Intellectual disability
ORPHA:1465	ARID1A	8289	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	ARID1A	8289	HP:0000486	Strabismus
ORPHA:1465	ARID1A	8289	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	ARID1A	8289	HP:0000527	Long eyelashes
ORPHA:1465	ARID1A	8289	HP:0002650	Scoliosis
ORPHA:1465	ARID1A	8289	HP:0000431	Wide nasal bridge
ORPHA:1465	ARID1A	8289	HP:0000639	Nystagmus
ORPHA:1465	ARID1A	8289	HP:0000252	Microcephaly
ORPHA:1465	ARID1A	8289	HP:0005280	Depressed nasal bridge
ORPHA:1465	ARID1A	8289	HP:0000028	Cryptorchidism
ORPHA:1465	ARID1A	8289	HP:0001250	Seizures
ORPHA:1465	ARID2	196528	HP:0004322	Short stature
ORPHA:1465	ARID2	196528	HP:0005692	Joint hyperflexibility
ORPHA:1465	ARID2	196528	HP:0009882	Short distal phalanx of finger
ORPHA:1465	ARID2	196528	HP:0001252	Muscular hypotonia
ORPHA:1465	ARID2	196528	HP:0001511	Intrauterine growth retardation
ORPHA:1465	ARID2	196528	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	ARID2	196528	HP:0001305	Dandy-Walker malformation
ORPHA:1465	ARID2	196528	HP:0000574	Thick eyebrow
ORPHA:1465	ARID2	196528	HP:0002217	Slow-growing hair
ORPHA:1465	ARID2	196528	HP:0003042	Elbow dislocation
ORPHA:1465	ARID2	196528	HP:0000365	Hearing impairment
ORPHA:1465	ARID2	196528	HP:0002230	Generalized hirsutism
ORPHA:1465	ARID2	196528	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	ARID2	196528	HP:0000179	Thick lower lip vermilion
ORPHA:1465	ARID2	196528	HP:0000154	Wide mouth
ORPHA:1465	ARID2	196528	HP:0002205	Recurrent respiratory infections
ORPHA:1465	ARID2	196528	HP:0000164	Abnormality of the dentition
ORPHA:1465	ARID2	196528	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	ARID2	196528	HP:0000280	Coarse facial features
ORPHA:1465	ARID2	196528	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	ARID2	196528	HP:0000457	Depressed nasal ridge
ORPHA:1465	ARID2	196528	HP:0001263	Global developmental delay
ORPHA:1465	ARID2	196528	HP:0001249	Intellectual disability
ORPHA:1465	ARID2	196528	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	ARID2	196528	HP:0000486	Strabismus
ORPHA:1465	ARID2	196528	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	ARID2	196528	HP:0000527	Long eyelashes
ORPHA:1465	ARID2	196528	HP:0002650	Scoliosis
ORPHA:1465	ARID2	196528	HP:0000431	Wide nasal bridge
ORPHA:1465	ARID2	196528	HP:0000639	Nystagmus
ORPHA:1465	ARID2	196528	HP:0000252	Microcephaly
ORPHA:1465	ARID2	196528	HP:0005280	Depressed nasal bridge
ORPHA:1465	ARID2	196528	HP:0000028	Cryptorchidism
ORPHA:1465	ARID2	196528	HP:0001250	Seizures
ORPHA:1465	ARID1B	57492	HP:0004322	Short stature
ORPHA:1465	ARID1B	57492	HP:0005692	Joint hyperflexibility
ORPHA:1465	ARID1B	57492	HP:0009882	Short distal phalanx of finger
ORPHA:1465	ARID1B	57492	HP:0001252	Muscular hypotonia
ORPHA:1465	ARID1B	57492	HP:0001511	Intrauterine growth retardation
ORPHA:1465	ARID1B	57492	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	ARID1B	57492	HP:0001305	Dandy-Walker malformation
ORPHA:1465	ARID1B	57492	HP:0000574	Thick eyebrow
ORPHA:1465	ARID1B	57492	HP:0002217	Slow-growing hair
ORPHA:1465	ARID1B	57492	HP:0003042	Elbow dislocation
ORPHA:1465	ARID1B	57492	HP:0000365	Hearing impairment
ORPHA:1465	ARID1B	57492	HP:0002230	Generalized hirsutism
ORPHA:1465	ARID1B	57492	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	ARID1B	57492	HP:0000179	Thick lower lip vermilion
ORPHA:1465	ARID1B	57492	HP:0000154	Wide mouth
ORPHA:1465	ARID1B	57492	HP:0002205	Recurrent respiratory infections
ORPHA:1465	ARID1B	57492	HP:0000164	Abnormality of the dentition
ORPHA:1465	ARID1B	57492	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	ARID1B	57492	HP:0000280	Coarse facial features
ORPHA:1465	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	ARID1B	57492	HP:0000457	Depressed nasal ridge
ORPHA:1465	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:1465	ARID1B	57492	HP:0001249	Intellectual disability
ORPHA:1465	ARID1B	57492	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	ARID1B	57492	HP:0000486	Strabismus
ORPHA:1465	ARID1B	57492	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	ARID1B	57492	HP:0000527	Long eyelashes
ORPHA:1465	ARID1B	57492	HP:0002650	Scoliosis
ORPHA:1465	ARID1B	57492	HP:0000431	Wide nasal bridge
ORPHA:1465	ARID1B	57492	HP:0000639	Nystagmus
ORPHA:1465	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:1465	ARID1B	57492	HP:0005280	Depressed nasal bridge
ORPHA:1465	ARID1B	57492	HP:0000028	Cryptorchidism
ORPHA:1465	ARID1B	57492	HP:0001250	Seizures
ORPHA:1465	SMARCA4	6597	HP:0004322	Short stature
ORPHA:1465	SMARCA4	6597	HP:0005692	Joint hyperflexibility
ORPHA:1465	SMARCA4	6597	HP:0009882	Short distal phalanx of finger
ORPHA:1465	SMARCA4	6597	HP:0001252	Muscular hypotonia
ORPHA:1465	SMARCA4	6597	HP:0001511	Intrauterine growth retardation
ORPHA:1465	SMARCA4	6597	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	SMARCA4	6597	HP:0001305	Dandy-Walker malformation
ORPHA:1465	SMARCA4	6597	HP:0000574	Thick eyebrow
ORPHA:1465	SMARCA4	6597	HP:0002217	Slow-growing hair
ORPHA:1465	SMARCA4	6597	HP:0003042	Elbow dislocation
ORPHA:1465	SMARCA4	6597	HP:0000365	Hearing impairment
ORPHA:1465	SMARCA4	6597	HP:0002230	Generalized hirsutism
ORPHA:1465	SMARCA4	6597	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	SMARCA4	6597	HP:0000179	Thick lower lip vermilion
ORPHA:1465	SMARCA4	6597	HP:0000154	Wide mouth
ORPHA:1465	SMARCA4	6597	HP:0002205	Recurrent respiratory infections
ORPHA:1465	SMARCA4	6597	HP:0000164	Abnormality of the dentition
ORPHA:1465	SMARCA4	6597	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	SMARCA4	6597	HP:0000280	Coarse facial features
ORPHA:1465	SMARCA4	6597	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	SMARCA4	6597	HP:0000457	Depressed nasal ridge
ORPHA:1465	SMARCA4	6597	HP:0001263	Global developmental delay
ORPHA:1465	SMARCA4	6597	HP:0001249	Intellectual disability
ORPHA:1465	SMARCA4	6597	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	SMARCA4	6597	HP:0000486	Strabismus
ORPHA:1465	SMARCA4	6597	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	SMARCA4	6597	HP:0000527	Long eyelashes
ORPHA:1465	SMARCA4	6597	HP:0002650	Scoliosis
ORPHA:1465	SMARCA4	6597	HP:0000431	Wide nasal bridge
ORPHA:1465	SMARCA4	6597	HP:0000639	Nystagmus
ORPHA:1465	SMARCA4	6597	HP:0000252	Microcephaly
ORPHA:1465	SMARCA4	6597	HP:0005280	Depressed nasal bridge
ORPHA:1465	SMARCA4	6597	HP:0000028	Cryptorchidism
ORPHA:1465	SMARCA4	6597	HP:0001250	Seizures
ORPHA:1465	SMARCB1	6598	HP:0004322	Short stature
ORPHA:1465	SMARCB1	6598	HP:0005692	Joint hyperflexibility
ORPHA:1465	SMARCB1	6598	HP:0009882	Short distal phalanx of finger
ORPHA:1465	SMARCB1	6598	HP:0001252	Muscular hypotonia
ORPHA:1465	SMARCB1	6598	HP:0001511	Intrauterine growth retardation
ORPHA:1465	SMARCB1	6598	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	SMARCB1	6598	HP:0001305	Dandy-Walker malformation
ORPHA:1465	SMARCB1	6598	HP:0000574	Thick eyebrow
ORPHA:1465	SMARCB1	6598	HP:0002217	Slow-growing hair
ORPHA:1465	SMARCB1	6598	HP:0003042	Elbow dislocation
ORPHA:1465	SMARCB1	6598	HP:0000365	Hearing impairment
ORPHA:1465	SMARCB1	6598	HP:0002230	Generalized hirsutism
ORPHA:1465	SMARCB1	6598	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	SMARCB1	6598	HP:0000179	Thick lower lip vermilion
ORPHA:1465	SMARCB1	6598	HP:0000154	Wide mouth
ORPHA:1465	SMARCB1	6598	HP:0002205	Recurrent respiratory infections
ORPHA:1465	SMARCB1	6598	HP:0000164	Abnormality of the dentition
ORPHA:1465	SMARCB1	6598	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	SMARCB1	6598	HP:0000280	Coarse facial features
ORPHA:1465	SMARCB1	6598	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	SMARCB1	6598	HP:0000457	Depressed nasal ridge
ORPHA:1465	SMARCB1	6598	HP:0001263	Global developmental delay
ORPHA:1465	SMARCB1	6598	HP:0001249	Intellectual disability
ORPHA:1465	SMARCB1	6598	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	SMARCB1	6598	HP:0000486	Strabismus
ORPHA:1465	SMARCB1	6598	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	SMARCB1	6598	HP:0000527	Long eyelashes
ORPHA:1465	SMARCB1	6598	HP:0002650	Scoliosis
ORPHA:1465	SMARCB1	6598	HP:0000431	Wide nasal bridge
ORPHA:1465	SMARCB1	6598	HP:0000639	Nystagmus
ORPHA:1465	SMARCB1	6598	HP:0000252	Microcephaly
ORPHA:1465	SMARCB1	6598	HP:0005280	Depressed nasal bridge
ORPHA:1465	SMARCB1	6598	HP:0000028	Cryptorchidism
ORPHA:1465	SMARCB1	6598	HP:0001250	Seizures
ORPHA:1465	SOX11	6664	HP:0004322	Short stature
ORPHA:1465	SOX11	6664	HP:0005692	Joint hyperflexibility
ORPHA:1465	SOX11	6664	HP:0009882	Short distal phalanx of finger
ORPHA:1465	SOX11	6664	HP:0001252	Muscular hypotonia
ORPHA:1465	SOX11	6664	HP:0001511	Intrauterine growth retardation
ORPHA:1465	SOX11	6664	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	SOX11	6664	HP:0001305	Dandy-Walker malformation
ORPHA:1465	SOX11	6664	HP:0000574	Thick eyebrow
ORPHA:1465	SOX11	6664	HP:0002217	Slow-growing hair
ORPHA:1465	SOX11	6664	HP:0003042	Elbow dislocation
ORPHA:1465	SOX11	6664	HP:0000365	Hearing impairment
ORPHA:1465	SOX11	6664	HP:0002230	Generalized hirsutism
ORPHA:1465	SOX11	6664	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	SOX11	6664	HP:0000179	Thick lower lip vermilion
ORPHA:1465	SOX11	6664	HP:0000154	Wide mouth
ORPHA:1465	SOX11	6664	HP:0002205	Recurrent respiratory infections
ORPHA:1465	SOX11	6664	HP:0000164	Abnormality of the dentition
ORPHA:1465	SOX11	6664	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	SOX11	6664	HP:0000280	Coarse facial features
ORPHA:1465	SOX11	6664	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	SOX11	6664	HP:0000457	Depressed nasal ridge
ORPHA:1465	SOX11	6664	HP:0001263	Global developmental delay
ORPHA:1465	SOX11	6664	HP:0001249	Intellectual disability
ORPHA:1465	SOX11	6664	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	SOX11	6664	HP:0000486	Strabismus
ORPHA:1465	SOX11	6664	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	SOX11	6664	HP:0000527	Long eyelashes
ORPHA:1465	SOX11	6664	HP:0002650	Scoliosis
ORPHA:1465	SOX11	6664	HP:0000431	Wide nasal bridge
ORPHA:1465	SOX11	6664	HP:0000639	Nystagmus
ORPHA:1465	SOX11	6664	HP:0000252	Microcephaly
ORPHA:1465	SOX11	6664	HP:0005280	Depressed nasal bridge
ORPHA:1465	SOX11	6664	HP:0000028	Cryptorchidism
ORPHA:1465	SOX11	6664	HP:0001250	Seizures
ORPHA:1465	SMARCE1	6605	HP:0004322	Short stature
ORPHA:1465	SMARCE1	6605	HP:0005692	Joint hyperflexibility
ORPHA:1465	SMARCE1	6605	HP:0009882	Short distal phalanx of finger
ORPHA:1465	SMARCE1	6605	HP:0001252	Muscular hypotonia
ORPHA:1465	SMARCE1	6605	HP:0001511	Intrauterine growth retardation
ORPHA:1465	SMARCE1	6605	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	SMARCE1	6605	HP:0001305	Dandy-Walker malformation
ORPHA:1465	SMARCE1	6605	HP:0000574	Thick eyebrow
ORPHA:1465	SMARCE1	6605	HP:0002217	Slow-growing hair
ORPHA:1465	SMARCE1	6605	HP:0003042	Elbow dislocation
ORPHA:1465	SMARCE1	6605	HP:0000365	Hearing impairment
ORPHA:1465	SMARCE1	6605	HP:0002230	Generalized hirsutism
ORPHA:1465	SMARCE1	6605	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	SMARCE1	6605	HP:0000179	Thick lower lip vermilion
ORPHA:1465	SMARCE1	6605	HP:0000154	Wide mouth
ORPHA:1465	SMARCE1	6605	HP:0002205	Recurrent respiratory infections
ORPHA:1465	SMARCE1	6605	HP:0000164	Abnormality of the dentition
ORPHA:1465	SMARCE1	6605	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	SMARCE1	6605	HP:0000280	Coarse facial features
ORPHA:1465	SMARCE1	6605	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	SMARCE1	6605	HP:0000457	Depressed nasal ridge
ORPHA:1465	SMARCE1	6605	HP:0001263	Global developmental delay
ORPHA:1465	SMARCE1	6605	HP:0001249	Intellectual disability
ORPHA:1465	SMARCE1	6605	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	SMARCE1	6605	HP:0000486	Strabismus
ORPHA:1465	SMARCE1	6605	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	SMARCE1	6605	HP:0000527	Long eyelashes
ORPHA:1465	SMARCE1	6605	HP:0002650	Scoliosis
ORPHA:1465	SMARCE1	6605	HP:0000431	Wide nasal bridge
ORPHA:1465	SMARCE1	6605	HP:0000639	Nystagmus
ORPHA:1465	SMARCE1	6605	HP:0000252	Microcephaly
ORPHA:1465	SMARCE1	6605	HP:0005280	Depressed nasal bridge
ORPHA:1465	SMARCE1	6605	HP:0000028	Cryptorchidism
ORPHA:1465	SMARCE1	6605	HP:0001250	Seizures
ORPHA:306550	FADD	8772	HP:0001250	Seizures
ORPHA:306550	FADD	8772	HP:0002059	Cerebral atrophy
ORPHA:306550	FADD	8772	HP:0001298	Encephalopathy
ORPHA:306550	FADD	8772	HP:0001410	Decreased liver function
ORPHA:306550	FADD	8772	HP:0001395	Hepatic fibrosis
ORPHA:968	GDF5	8200	HP:0001156	Brachydactyly
ORPHA:968	GDF5	8200	HP:0008890	Severe short-limb dwarfism
ORPHA:968	GDF5	8200	HP:0001387	Joint stiffness
ORPHA:968	GDF5	8200	HP:0100543	Cognitive impairment
ORPHA:968	GDF5	8200	HP:0006014	Abnormally shaped carpal bones
ORPHA:968	GDF5	8200	HP:0002167	Neurological speech impairment
ORPHA:968	GDF5	8200	HP:0002650	Scoliosis
ORPHA:968	GDF5	8200	HP:0009778	Short thumb
ORPHA:968	GDF5	8200	HP:0008368	Tarsal synostosis
ORPHA:968	GDF5	8200	HP:0002999	Patellar dislocation
ORPHA:968	GDF5	8200	HP:0007598	Bilateral single transverse palmar creases
ORPHA:968	GDF5	8200	HP:0003028	Abnormality of the ankles
ORPHA:968	GDF5	8200	HP:0003086	Acromesomelia
ORPHA:968	GDF5	8200	HP:0006011	Cuboidal metacarpal
ORPHA:968	GDF5	8200	HP:0003042	Elbow dislocation
ORPHA:968	GDF5	8200	HP:0002827	Hip dislocation
OMIM:305450	MED12	9968	HP:0000238	Hydrocephalus
OMIM:305450	MED12	9968	HP:0000204	Cleft upper lip
OMIM:305450	MED12	9968	HP:0001357	Plagiocephaly
OMIM:305450	MED12	9968	HP:0030084	Clinodactyly
OMIM:305450	MED12	9968	HP:0009466	Radial deviation of finger
OMIM:305450	MED12	9968	HP:0000453	Choanal atresia
OMIM:305450	MED12	9968	HP:0000678	Dental crowding
OMIM:305450	MED12	9968	HP:0000260	Wide anterior fontanel
OMIM:305450	MED12	9968	HP:0012385	Camptodactyly
OMIM:305450	MED12	9968	HP:0009762	Facial wrinkling
OMIM:305450	MED12	9968	HP:0001338	Partial agenesis of the corpus callosum
OMIM:305450	MED12	9968	HP:0001249	Intellectual disability
OMIM:305450	MED12	9968	HP:0005490	Postnatal macrocephaly
OMIM:305450	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:305450	MED12	9968	HP:0002566	Intestinal malrotation
OMIM:305450	MED12	9968	HP:0009473	Joint contracture of the hand
OMIM:305450	MED12	9968	HP:0001319	Neonatal hypotonia
OMIM:305450	MED12	9968	HP:0002007	Frontal bossing
OMIM:305450	MED12	9968	HP:0007018	Attention deficit hyperactivity disorder
OMIM:305450	MED12	9968	HP:0001545	Anteriorly placed anus
OMIM:305450	MED12	9968	HP:0001537	Umbilical hernia
OMIM:305450	MED12	9968	HP:0011266	Microtia, first degree
OMIM:305450	MED12	9968	HP:0000486	Strabismus
OMIM:305450	MED12	9968	HP:0001212	Prominent fingertip pads
OMIM:305450	MED12	9968	HP:0010055	Broad hallux
OMIM:305450	MED12	9968	HP:0002025	Anal stenosis
OMIM:305450	MED12	9968	HP:0002282	Heterotopia
OMIM:305450	MED12	9968	HP:0000154	Wide mouth
OMIM:305450	MED12	9968	HP:0001270	Motor delay
OMIM:305450	MED12	9968	HP:0002828	Multiple joint contractures
OMIM:305450	MED12	9968	HP:0000954	Single transverse palmar crease
OMIM:305450	MED12	9968	HP:0000286	Epicanthus
OMIM:305450	MED12	9968	HP:0000347	Micrognathia
OMIM:305450	MED12	9968	HP:0004322	Short stature
OMIM:305450	MED12	9968	HP:0008070	Sparse hair
OMIM:305450	MED12	9968	HP:0002019	Constipation
OMIM:305450	MED12	9968	HP:0000343	Long philtrum
OMIM:305450	MED12	9968	HP:0000175	Cleft palate
OMIM:305450	MED12	9968	HP:0001620	High pitched voice
OMIM:305450	MED12	9968	HP:0000494	Downslanted palpebral fissures
OMIM:305450	MED12	9968	HP:0001250	Seizures
OMIM:305450	MED12	9968	HP:0002938	Lumbar hyperlordosis
OMIM:305450	MED12	9968	HP:0002021	Pyloric stenosis
OMIM:305450	MED12	9968	HP:0000189	Narrow palate
OMIM:305450	MED12	9968	HP:0000960	Sacral dimple
OMIM:305450	MED12	9968	HP:0001159	Syndactyly
OMIM:305450	MED12	9968	HP:0001171	Split hand
OMIM:305450	MED12	9968	HP:0011304	Broad thumb
OMIM:305450	MED12	9968	HP:0001739	Abnormality of the nasopharynx
OMIM:305450	MED12	9968	HP:0000047	Hypospadias
OMIM:305450	MED12	9968	HP:0000179	Thick lower lip vermilion
OMIM:305450	MED12	9968	HP:0000470	Short neck
OMIM:305450	MED12	9968	HP:0002213	Fine hair
OMIM:305450	MED12	9968	HP:0001627	Abnormal heart morphology
OMIM:305450	MED12	9968	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:305450	MED12	9968	HP:0010609	Skin tags
OMIM:305450	MED12	9968	HP:0000316	Hypertelorism
OMIM:305450	MED12	9968	HP:0000448	Prominent nose
OMIM:305450	MED12	9968	HP:0000407	Sensorineural hearing impairment
OMIM:305450	MED12	9968	HP:0000028	Cryptorchidism
OMIM:305450	MED12	9968	HP:0002236	Frontal upsweep of hair
OMIM:305450	MED12	9968	HP:0001263	Global developmental delay
OMIM:305450	MED12	9968	HP:0011220	Prominent forehead
OMIM:305450	MED12	9968	HP:0000023	Inguinal hernia
OMIM:305450	MED12	9968	HP:0000766	Abnormality of the sternum
OMIM:305450	MED12	9968	HP:0002023	Anal atresia
ORPHA:52022	ALX4	60529	HP:0000322	Short philtrum
ORPHA:52022	ALX4	60529	HP:0000286	Epicanthus
ORPHA:52022	ALX4	60529	HP:0000437	Depressed nasal tip
ORPHA:52022	ALX4	60529	HP:0004331	Decreased skull ossification
ORPHA:52022	ALX4	60529	HP:0100777	Exostoses
ORPHA:52022	ALX4	60529	HP:0000426	Prominent nasal bridge
ORPHA:52022	ALX4	60529	HP:0000347	Micrognathia
ORPHA:52022	ALX4	60529	HP:0001250	Seizures
ORPHA:52022	ALX4	60529	HP:0002697	Parietal foramina
ORPHA:52022	ALX4	60529	HP:0000455	Broad nasal tip
ORPHA:52022	ALX4	60529	HP:0000486	Strabismus
ORPHA:52022	ALX4	60529	HP:0000430	Underdeveloped nasal alae
ORPHA:52022	ALX4	60529	HP:0000248	Brachycephaly
ORPHA:52022	ALX4	60529	HP:0002714	Downturned corners of mouth
ORPHA:52022	ALX4	60529	HP:0000639	Nystagmus
ORPHA:52022	ALX4	60529	HP:0000054	Micropenis
ORPHA:52022	ALX4	60529	HP:0001263	Global developmental delay
ORPHA:52022	EXT2	2132	HP:0000322	Short philtrum
ORPHA:52022	EXT2	2132	HP:0000286	Epicanthus
ORPHA:52022	EXT2	2132	HP:0000437	Depressed nasal tip
ORPHA:52022	EXT2	2132	HP:0004331	Decreased skull ossification
ORPHA:52022	EXT2	2132	HP:0100777	Exostoses
ORPHA:52022	EXT2	2132	HP:0000426	Prominent nasal bridge
ORPHA:52022	EXT2	2132	HP:0000347	Micrognathia
ORPHA:52022	EXT2	2132	HP:0001250	Seizures
ORPHA:52022	EXT2	2132	HP:0002697	Parietal foramina
ORPHA:52022	EXT2	2132	HP:0000455	Broad nasal tip
ORPHA:52022	EXT2	2132	HP:0000486	Strabismus
ORPHA:52022	EXT2	2132	HP:0000430	Underdeveloped nasal alae
ORPHA:52022	EXT2	2132	HP:0000248	Brachycephaly
ORPHA:52022	EXT2	2132	HP:0002714	Downturned corners of mouth
ORPHA:52022	EXT2	2132	HP:0000639	Nystagmus
ORPHA:52022	EXT2	2132	HP:0000054	Micropenis
ORPHA:52022	EXT2	2132	HP:0001263	Global developmental delay
ORPHA:52022	PHF21A	51317	HP:0000322	Short philtrum
ORPHA:52022	PHF21A	51317	HP:0000286	Epicanthus
ORPHA:52022	PHF21A	51317	HP:0000437	Depressed nasal tip
ORPHA:52022	PHF21A	51317	HP:0004331	Decreased skull ossification
ORPHA:52022	PHF21A	51317	HP:0100777	Exostoses
ORPHA:52022	PHF21A	51317	HP:0000426	Prominent nasal bridge
ORPHA:52022	PHF21A	51317	HP:0000347	Micrognathia
ORPHA:52022	PHF21A	51317	HP:0001250	Seizures
ORPHA:52022	PHF21A	51317	HP:0002697	Parietal foramina
ORPHA:52022	PHF21A	51317	HP:0000455	Broad nasal tip
ORPHA:52022	PHF21A	51317	HP:0000486	Strabismus
ORPHA:52022	PHF21A	51317	HP:0000430	Underdeveloped nasal alae
ORPHA:52022	PHF21A	51317	HP:0000248	Brachycephaly
ORPHA:52022	PHF21A	51317	HP:0002714	Downturned corners of mouth
ORPHA:52022	PHF21A	51317	HP:0000639	Nystagmus
ORPHA:52022	PHF21A	51317	HP:0000054	Micropenis
ORPHA:52022	PHF21A	51317	HP:0001263	Global developmental delay
ORPHA:83465	HLA-DRB1	3123	HP:0001262	Excessive daytime somnolence
ORPHA:83465	HLA-DRB1	3123	HP:0000738	Hallucinations
ORPHA:83465	HLA-DRB1	3123	HP:0100785	Insomnia
ORPHA:83465	HCRT	3060	HP:0001262	Excessive daytime somnolence
ORPHA:83465	HCRT	3060	HP:0000738	Hallucinations
ORPHA:83465	HCRT	3060	HP:0100785	Insomnia
ORPHA:83465	ZNF365	22891	HP:0001262	Excessive daytime somnolence
ORPHA:83465	ZNF365	22891	HP:0000738	Hallucinations
ORPHA:83465	ZNF365	22891	HP:0100785	Insomnia
ORPHA:83465	HLA-DQB1	3119	HP:0001262	Excessive daytime somnolence
ORPHA:83465	HLA-DQB1	3119	HP:0000738	Hallucinations
ORPHA:83465	HLA-DQB1	3119	HP:0100785	Insomnia
OMIM:117550	NSD1	64324	HP:0000405	Conductive hearing impairment
OMIM:117550	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:117550	NSD1	64324	HP:0002667	Nephroblastoma
OMIM:117550	NSD1	64324	HP:0001250	Seizures
OMIM:117550	NSD1	64324	HP:0001388	Joint laxity
OMIM:117550	NSD1	64324	HP:0001763	Pes planus
OMIM:117550	NSD1	64324	HP:0002857	Genu valgum
OMIM:117550	NSD1	64324	HP:0000307	Pointed chin
OMIM:117550	NSD1	64324	HP:0001338	Partial agenesis of the corpus callosum
OMIM:117550	NSD1	64324	HP:0000316	Hypertelorism
OMIM:117550	NSD1	64324	HP:0002389	Cavum septum pellucidum
OMIM:117550	NSD1	64324	HP:0000303	Mandibular prognathia
OMIM:117550	NSD1	64324	HP:0001347	Hyperreflexia
OMIM:117550	NSD1	64324	HP:0002280	Enlarged cisterna magna
OMIM:117550	NSD1	64324	HP:0001319	Neonatal hypotonia
OMIM:117550	NSD1	64324	HP:0000540	Hypermetropia
OMIM:117550	NSD1	64324	HP:0003745	Sporadic
OMIM:117550	NSD1	64324	HP:0009890	High anterior hairline
OMIM:117550	NSD1	64324	HP:0001792	Small nail
OMIM:117550	NSD1	64324	HP:0002705	High, narrow palate
OMIM:117550	NSD1	64324	HP:0005616	Accelerated skeletal maturation
OMIM:117550	NSD1	64324	HP:0000268	Dolichocephaly
OMIM:117550	NSD1	64324	HP:0000639	Nystagmus
OMIM:117550	NSD1	64324	HP:0001263	Global developmental delay
OMIM:117550	NSD1	64324	HP:0002370	Poor coordination
OMIM:117550	NSD1	64324	HP:0001249	Intellectual disability
OMIM:117550	NSD1	64324	HP:0001629	Ventricular septal defect
OMIM:117550	NSD1	64324	HP:0000098	Tall stature
OMIM:117550	NSD1	64324	HP:0001643	Patent ductus arteriosus
OMIM:117550	NSD1	64324	HP:0002474	Expressive language delay
OMIM:117550	NSD1	64324	HP:0000218	High palate
OMIM:117550	NSD1	64324	HP:0006288	Advanced eruption of teeth
OMIM:117550	NSD1	64324	HP:0001176	Large hands
OMIM:117550	NSD1	64324	HP:0001833	Long foot
OMIM:117550	NSD1	64324	HP:0001952	Abnormal glucose tolerance
OMIM:117550	NSD1	64324	HP:0000708	Behavioral abnormality
OMIM:117550	NSD1	64324	HP:0001631	Atrial septal defect
OMIM:117550	NSD1	64324	HP:0002650	Scoliosis
OMIM:117550	NSD1	64324	HP:0000486	Strabismus
OMIM:117550	NSD1	64324	HP:0000189	Narrow palate
OMIM:117550	NSD1	64324	HP:0000494	Downslanted palpebral fissures
OMIM:117550	NSD1	64324	HP:0002007	Frontal bossing
OMIM:117550	NSD1	64324	HP:0000256	Macrocephaly
OMIM:117550	NSD1	64324	HP:0000388	Otitis media
OMIM:616221	ITGB6	3694	HP:0000007	Autosomal recessive inheritance
OMIM:616221	ITGB6	3694	HP:0009102	Anterior open-bite malocclusion
OMIM:616221	ITGB6	3694	HP:0000705	Amelogenesis imperfecta
OMIM:616221	ITGB6	3694	HP:0006286	Yellow-brown discoloration of the teeth
OMIM:616221	ITGB6	3694	HP:0006297	Hypoplasia of dental enamel
OMIM:616221	ITGB6	3694	HP:0009722	Dental enamel pits
OMIM:303350	L1CAM	3897	HP:0001274	Agenesis of corpus callosum
OMIM:303350	L1CAM	3897	HP:0002381	Aphasia
OMIM:303350	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:303350	L1CAM	3897	HP:0002808	Kyphosis
OMIM:303350	L1CAM	3897	HP:0001419	X-linked recessive inheritance
OMIM:303350	L1CAM	3897	HP:0004322	Short stature
OMIM:303350	L1CAM	3897	HP:0001181	Adducted thumb
OMIM:303350	L1CAM	3897	HP:0000252	Microcephaly
OMIM:303350	L1CAM	3897	HP:0000256	Macrocephaly
OMIM:303350	L1CAM	3897	HP:0001761	Pes cavus
OMIM:303350	L1CAM	3897	HP:0002362	Shuffling gait
OMIM:303350	L1CAM	3897	HP:0003307	Hyperlordosis
OMIM:303350	L1CAM	3897	HP:0001258	Spastic paraplegia
OMIM:303350	L1CAM	3897	HP:0000486	Strabismus
OMIM:303350	L1CAM	3897	HP:0001762	Talipes equinovarus
OMIM:303350	L1CAM	3897	HP:0000238	Hydrocephalus
OMIM:303350	L1CAM	3897	HP:0002119	Ventriculomegaly
OMIM:300952	NDUFB11	54539	HP:0001663	Ventricular fibrillation
OMIM:300952	NDUFB11	54539	HP:0001250	Seizures
OMIM:300952	NDUFB11	54539	HP:0000639	Nystagmus
OMIM:300952	NDUFB11	54539	HP:0006956	Dilation of lateral ventricles
OMIM:300952	NDUFB11	54539	HP:0001644	Dilated cardiomyopathy
OMIM:300952	NDUFB11	54539	HP:0000564	Lacrimal duct atresia
OMIM:300952	NDUFB11	54539	HP:0001423	X-linked dominant inheritance
OMIM:300952	NDUFB11	54539	HP:0001508	Failure to thrive
OMIM:300952	NDUFB11	54539	HP:0001695	Cardiac arrest
OMIM:300952	NDUFB11	54539	HP:0000545	Myopia
OMIM:300952	NDUFB11	54539	HP:0008936	Muscular hypotonia of the trunk
OMIM:300952	NDUFB11	54539	HP:0004756	Ventricular tachycardia
OMIM:300952	NDUFB11	54539	HP:0001274	Agenesis of corpus callosum
OMIM:300952	NDUFB11	54539	HP:0000486	Strabismus
OMIM:147950	FGFR1	2260	HP:0004322	Short stature
OMIM:147950	FGFR1	2260	HP:0000458	Anosmia
OMIM:147950	FGFR1	2260	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:147950	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FGFR1	2260	HP:0000771	Gynecomastia
OMIM:147950	FGFR1	2260	HP:0003829	Incomplete penetrance
OMIM:147950	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:147950	FGFR1	2260	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FGFR1	2260	HP:0000175	Cleft palate
OMIM:147950	FGFR1	2260	HP:0000204	Cleft upper lip
OMIM:147950	FGFR1	2260	HP:0001249	Intellectual disability
OMIM:147950	FGFR1	2260	HP:0001425	Heterogeneous
OMIM:147950	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FGFR1	2260	HP:0000453	Choanal atresia
OMIM:147950	FGFR1	2260	HP:0000054	Micropenis
OMIM:147950	FGFR1	2260	HP:0001335	Bimanual synkinesia
ORPHA:93296	COL2A1	1280	HP:0000343	Long philtrum
ORPHA:93296	COL2A1	1280	HP:0003270	Abdominal distention
ORPHA:93296	COL2A1	1280	HP:0000774	Narrow chest
ORPHA:93296	COL2A1	1280	HP:0005716	Lethal skeletal dysplasia
ORPHA:93296	COL2A1	1280	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:93296	COL2A1	1280	HP:0100541	Femoral hernia
ORPHA:93296	COL2A1	1280	HP:0000463	Anteverted nares
ORPHA:93296	COL2A1	1280	HP:0001561	Polyhydramnios
ORPHA:93296	COL2A1	1280	HP:0001537	Umbilical hernia
ORPHA:93296	COL2A1	1280	HP:0000256	Macrocephaly
ORPHA:93296	COL2A1	1280	HP:0000470	Short neck
ORPHA:93296	COL2A1	1280	HP:0008873	Disproportionate short-limb short stature
ORPHA:93296	COL2A1	1280	HP:0003336	Abnormal enchondral ossification
ORPHA:93296	COL2A1	1280	HP:0001789	Hydrops fetalis
ORPHA:93296	COL2A1	1280	HP:0003196	Short nose
ORPHA:93296	COL2A1	1280	HP:0002007	Frontal bossing
ORPHA:93296	COL2A1	1280	HP:0000347	Micrognathia
ORPHA:93296	COL2A1	1280	HP:0012368	Flat face
ORPHA:93296	COL2A1	1280	HP:0002983	Micromelia
ORPHA:93296	COL2A1	1280	HP:0000474	Thickened nuchal skin fold
OMIM:616289	ACO2	50	HP:0000505	Visual impairment
OMIM:616289	ACO2	50	HP:0000642	Red-green dyschromatopsia
OMIM:616289	ACO2	50	HP:0000648	Optic atrophy
OMIM:616289	ACO2	50	HP:0007663	Reduced visual acuity
OMIM:616289	ACO2	50	HP:0000007	Autosomal recessive inheritance
OMIM:616289	ACO2	50	HP:0030528	Paracentral scotoma
OMIM:615342	SMAD9	4093	HP:0003676	Progressive
OMIM:615342	SMAD9	4093	HP:0000006	Autosomal dominant inheritance
OMIM:615342	SMAD9	4093	HP:0005317	Increased pulmonary vascular resistance
OMIM:615342	SMAD9	4093	HP:0003829	Incomplete penetrance
OMIM:615342	SMAD9	4093	HP:0002092	Pulmonary arterial hypertension
OMIM:614450	THRA	7067	HP:0001374	Congenital hip dislocation
OMIM:614450	THRA	7067	HP:0000158	Macroglossia
OMIM:614450	THRA	7067	HP:0000316	Hypertelorism
OMIM:614450	THRA	7067	HP:0002019	Constipation
OMIM:614450	THRA	7067	HP:0002750	Delayed skeletal maturation
OMIM:614450	THRA	7067	HP:0001539	Omphalocele
OMIM:614450	THRA	7067	HP:0002930	Thyroid hormone receptor defect
OMIM:614450	THRA	7067	HP:0004324	Increased body weight
OMIM:614450	THRA	7067	HP:0000684	Delayed eruption of teeth
OMIM:614450	THRA	7067	HP:0002329	Drowsiness
OMIM:614450	THRA	7067	HP:0000006	Autosomal dominant inheritance
OMIM:614450	THRA	7067	HP:0000958	Dry skin
OMIM:614450	THRA	7067	HP:0004482	Relative macrocephaly
OMIM:614450	THRA	7067	HP:0012559	Increased T3/T4 ratio
OMIM:614450	THRA	7067	HP:0000851	Congenital hypothyroidism
OMIM:614450	THRA	7067	HP:0001510	Growth delay
OMIM:614450	THRA	7067	HP:0001903	Anemia
ORPHA:88639	HIBCH	26275	HP:0001252	Muscular hypotonia
OMIM:615084	MGME1	92667	HP:0000815	Hypergonadotropic hypogonadism
OMIM:615084	MGME1	92667	HP:0002093	Respiratory insufficiency
OMIM:615084	MGME1	92667	HP:0003306	Spinal rigidity
OMIM:615084	MGME1	92667	HP:0000590	Progressive external ophthalmoplegia
OMIM:615084	MGME1	92667	HP:0000007	Autosomal recessive inheritance
OMIM:615084	MGME1	92667	HP:0000508	Ptosis
OMIM:615084	MGME1	92667	HP:0002094	Dyspnea
OMIM:615084	MGME1	92667	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615084	MGME1	92667	HP:0003676	Progressive
OMIM:615084	MGME1	92667	HP:0002719	Recurrent infections
OMIM:615084	MGME1	92667	HP:0003700	Generalized amyotrophy
OMIM:615084	MGME1	92667	HP:0001611	Nasal speech
OMIM:615084	MGME1	92667	HP:0008443	Spinal deformities
OMIM:615084	MGME1	92667	HP:0002808	Kyphosis
OMIM:615084	MGME1	92667	HP:0003546	Exercise intolerance
OMIM:615084	MGME1	92667	HP:0010628	Facial palsy
OMIM:615084	MGME1	92667	HP:0001265	Hyporeflexia
OMIM:615084	MGME1	92667	HP:0001618	Dysphonia
OMIM:615084	MGME1	92667	HP:0007126	Proximal amyotrophy
OMIM:615084	MGME1	92667	HP:0003388	Easy fatigability
OMIM:219050	INSL3	3640	HP:0012741	Unilateral cryptorchidism
OMIM:219050	INSL3	3640	HP:0000006	Autosomal dominant inheritance
OMIM:219050	INSL3	3640	HP:0000104	Renal agenesis
OMIM:219050	RXFP2	122042	HP:0012741	Unilateral cryptorchidism
OMIM:219050	RXFP2	122042	HP:0000006	Autosomal dominant inheritance
OMIM:219050	RXFP2	122042	HP:0000104	Renal agenesis
OMIM:617113	GABRB3	2562	HP:0000752	Hyperactivity
OMIM:617113	GABRB3	2562	HP:0001251	Ataxia
OMIM:617113	GABRB3	2562	HP:0100660	Dyskinesia
OMIM:617113	GABRB3	2562	HP:0200134	Epileptic encephalopathy
OMIM:617113	GABRB3	2562	HP:0001250	Seizures
OMIM:617113	GABRB3	2562	HP:0001290	Generalized hypotonia
OMIM:617113	GABRB3	2562	HP:0003593	Infantile onset
OMIM:617113	GABRB3	2562	HP:0000006	Autosomal dominant inheritance
OMIM:617113	GABRB3	2562	HP:0001249	Intellectual disability
OMIM:617113	GABRB3	2562	HP:0001263	Global developmental delay
ORPHA:1885	FBN1	2200	HP:0000303	Mandibular prognathia
ORPHA:1885	FBN1	2200	HP:0000272	Malar flattening
ORPHA:1885	FBN1	2200	HP:0001083	Ectopia lentis
ORPHA:1885	FBN1	2200	HP:0001387	Joint stiffness
ORPHA:1885	FBN1	2200	HP:0100543	Cognitive impairment
ORPHA:1885	ADAMTSL4	54507	HP:0000303	Mandibular prognathia
ORPHA:1885	ADAMTSL4	54507	HP:0000272	Malar flattening
ORPHA:1885	ADAMTSL4	54507	HP:0001083	Ectopia lentis
ORPHA:1885	ADAMTSL4	54507	HP:0001387	Joint stiffness
ORPHA:1885	ADAMTSL4	54507	HP:0100543	Cognitive impairment
OMIM:614885	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614885	PEX13	5194	HP:0000518	Cataract
OMIM:614885	PEX13	5194	HP:0003323	Progressive muscle weakness
OMIM:614885	PEX13	5194	HP:0011968	Feeding difficulties
OMIM:614885	PEX13	5194	HP:0011947	Respiratory tract infection
OMIM:614885	PEX13	5194	HP:0011398	Central hypotonia
OMIM:614885	PEX13	5194	HP:0000365	Hearing impairment
OMIM:614885	PEX13	5194	HP:0000572	Visual loss
OMIM:614885	PEX13	5194	HP:0001290	Generalized hypotonia
OMIM:614926	HARS2	23438	HP:0000007	Autosomal recessive inheritance
OMIM:614926	HARS2	23438	HP:0000407	Sensorineural hearing impairment
OMIM:606688	PRNP	5621	HP:0002171	Gliosis
OMIM:606688	PRNP	5621	HP:0000726	Dementia
OMIM:606688	PRNP	5621	HP:0000751	Personality changes
OMIM:606688	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:606688	PRNP	5621	HP:0001298	Encephalopathy
OMIM:616439	TBK1	29110	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	TBK1	29110	HP:0002120	Cerebral cortical atrophy
OMIM:616439	TBK1	29110	HP:0000751	Personality changes
OMIM:616439	TBK1	29110	HP:0002380	Fasciculations
OMIM:616439	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:616439	TBK1	29110	HP:0000734	Disinhibition
OMIM:616439	TBK1	29110	HP:0003676	Progressive
OMIM:616439	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	TBK1	29110	HP:0000741	Apathy
OMIM:616439	TBK1	29110	HP:0002015	Dysphagia
OMIM:616439	TBK1	29110	HP:0001347	Hyperreflexia
OMIM:616439	TBK1	29110	HP:0001260	Dysarthria
OMIM:616439	TBK1	29110	HP:0002300	Mutism
OMIM:616439	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:616439	TBK1	29110	HP:0003581	Adult onset
OMIM:616439	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:616439	TBK1	29110	HP:0002145	Frontotemporal dementia
OMIM:616439	TBK1	29110	HP:0002463	Language impairment
OMIM:616439	TBK1	29110	HP:0001283	Bulbar palsy
OMIM:616439	TBK1	29110	HP:0003812	Phenotypic variability
OMIM:208085	VPS33B	26276	HP:0002910	Elevated hepatic transaminases
OMIM:208085	VPS33B	26276	HP:0001508	Failure to thrive
OMIM:208085	VPS33B	26276	HP:0000369	Low-set ears
OMIM:208085	VPS33B	26276	HP:0001942	Metabolic acidosis
OMIM:208085	VPS33B	26276	HP:0001631	Atrial septal defect
OMIM:208085	VPS33B	26276	HP:0000112	Nephropathy
OMIM:208085	VPS33B	26276	HP:0001263	Global developmental delay
OMIM:208085	VPS33B	26276	HP:0001385	Hip dysplasia
OMIM:208085	VPS33B	26276	HP:0200084	Giant cell hepatitis
OMIM:208085	VPS33B	26276	HP:0001884	Talipes calcaneovalgus
OMIM:208085	VPS33B	26276	HP:0001667	Right ventricular hypertrophy
OMIM:208085	VPS33B	26276	HP:0000952	Jaundice
OMIM:208085	VPS33B	26276	HP:0001290	Generalized hypotonia
OMIM:208085	VPS33B	26276	HP:0001522	Death in infancy
OMIM:208085	VPS33B	26276	HP:0001629	Ventricular septal defect
OMIM:208085	VPS33B	26276	HP:0000340	Sloping forehead
OMIM:208085	VPS33B	26276	HP:0008064	Ichthyosis
OMIM:208085	VPS33B	26276	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208085	VPS33B	26276	HP:0001947	Renal tubular acidosis
OMIM:208085	VPS33B	26276	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208085	VPS33B	26276	HP:0000252	Microcephaly
OMIM:208085	VPS33B	26276	HP:0000121	Nephrocalcinosis
OMIM:208085	VPS33B	26276	HP:0001944	Dehydration
OMIM:208085	VPS33B	26276	HP:0000347	Micrognathia
OMIM:208085	VPS33B	26276	HP:0000007	Autosomal recessive inheritance
OMIM:208085	VPS33B	26276	HP:0002611	Cholestatic liver disease
OMIM:612714	COX4I2	84701	HP:0003193	Allergic rhinitis
OMIM:612714	COX4I2	84701	HP:0004395	Malnutrition
OMIM:612714	COX4I2	84701	HP:0000007	Autosomal recessive inheritance
OMIM:612714	COX4I2	84701	HP:0001263	Global developmental delay
OMIM:612714	COX4I2	84701	HP:0002570	Steatorrhea
OMIM:612714	COX4I2	84701	HP:0001508	Failure to thrive
OMIM:612714	COX4I2	84701	HP:0001738	Exocrine pancreatic insufficiency
OMIM:612714	COX4I2	84701	HP:0004490	Calvarial hyperostosis
OMIM:612714	COX4I2	84701	HP:0000670	Carious teeth
OMIM:612714	COX4I2	84701	HP:0002240	Hepatomegaly
OMIM:612714	COX4I2	84701	HP:0001744	Splenomegaly
OMIM:612714	COX4I2	84701	HP:0003593	Infantile onset
OMIM:612714	COX4I2	84701	HP:0000938	Osteopenia
OMIM:612714	COX4I2	84701	HP:0002099	Asthma
OMIM:612714	COX4I2	84701	HP:0002750	Delayed skeletal maturation
OMIM:612714	COX4I2	84701	HP:0010972	Anemia of inadequate production
OMIM:612714	COX4I2	84701	HP:0000952	Jaundice
OMIM:612714	COX4I2	84701	HP:0000988	Skin rash
OMIM:617072	TOR1AIP1	26092	HP:0003677	Slow progression
OMIM:617072	TOR1AIP1	26092	HP:0100297	Increased endomysial connective tissue
OMIM:617072	TOR1AIP1	26092	HP:0000007	Autosomal recessive inheritance
OMIM:617072	TOR1AIP1	26092	HP:0006466	Ankle contracture
OMIM:617072	TOR1AIP1	26092	HP:0003306	Spinal rigidity
OMIM:610356	KCNV2	169522	HP:0000666	Horizontal nystagmus
OMIM:610356	KCNV2	169522	HP:0000545	Myopia
OMIM:610356	KCNV2	169522	HP:0000007	Autosomal recessive inheritance
OMIM:610356	KCNV2	169522	HP:0000575	Scotoma
OMIM:610356	KCNV2	169522	HP:0000662	Nyctalopia
OMIM:610356	KCNV2	169522	HP:0000613	Photophobia
OMIM:610356	KCNV2	169522	HP:0000548	Cone/cone-rod dystrophy
OMIM:610356	KCNV2	169522	HP:0000483	Astigmatism
OMIM:244460	TBCE	6905	HP:0000883	Thin ribs
OMIM:244460	TBCE	6905	HP:0002917	Hypomagnesemia
OMIM:244460	TBCE	6905	HP:0001250	Seizures
OMIM:244460	TBCE	6905	HP:0004279	Short palm
OMIM:244460	TBCE	6905	HP:0003100	Slender long bone
OMIM:244460	TBCE	6905	HP:0006645	Thin clavicles
OMIM:244460	TBCE	6905	HP:0004331	Decreased skull ossification
OMIM:244460	TBCE	6905	HP:0002718	Recurrent bacterial infections
OMIM:244460	TBCE	6905	HP:0003561	Birth length less than 3rd percentile
OMIM:244460	TBCE	6905	HP:0000316	Hypertelorism
OMIM:244460	TBCE	6905	HP:0001511	Intrauterine growth retardation
OMIM:244460	TBCE	6905	HP:0002750	Delayed skeletal maturation
OMIM:244460	TBCE	6905	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:244460	TBCE	6905	HP:0002901	Hypocalcemia
OMIM:244460	TBCE	6905	HP:0001903	Anemia
OMIM:244460	TBCE	6905	HP:0005450	Calvarial osteosclerosis
OMIM:244460	TBCE	6905	HP:0000007	Autosomal recessive inheritance
OMIM:244460	TBCE	6905	HP:0003508	Proportionate short stature
OMIM:244460	TBCE	6905	HP:0001773	Short foot
OMIM:244460	TBCE	6905	HP:0000890	Long clavicles
OMIM:244460	TBCE	6905	HP:0001281	Tetany
OMIM:244460	TBCE	6905	HP:0200055	Small hand
OMIM:244460	TBCE	6905	HP:0008198	Congenital hypoparathyroidism
OMIM:244460	TBCE	6905	HP:0000670	Carious teeth
ORPHA:2591	NOTCH3	4854	HP:0012062	Bone cyst
ORPHA:2591	NOTCH3	4854	HP:0100526	Neoplasm of the lung
ORPHA:2591	NOTCH3	4854	HP:0001482	Subcutaneous nodule
ORPHA:2591	NOTCH3	4854	HP:0001595	Abnormality of the hair
ORPHA:2591	NOTCH3	4854	HP:0000765	Abnormality of the thorax
ORPHA:2591	NOTCH3	4854	HP:0000944	Abnormality of the metaphysis
ORPHA:2591	NOTCH3	4854	HP:0000169	Gingival fibromatosis
ORPHA:2591	NOTCH3	4854	HP:0003011	Abnormality of the musculature
ORPHA:2591	NOTCH3	4854	HP:0008069	Neoplasm of the skin
ORPHA:2591	NOTCH3	4854	HP:0000929	Abnormality of the skull
ORPHA:2591	NOTCH3	4854	HP:0000934	Chondrocalcinosis
ORPHA:2591	PDGFRB	5159	HP:0012062	Bone cyst
ORPHA:2591	PDGFRB	5159	HP:0100526	Neoplasm of the lung
ORPHA:2591	PDGFRB	5159	HP:0001482	Subcutaneous nodule
ORPHA:2591	PDGFRB	5159	HP:0001595	Abnormality of the hair
ORPHA:2591	PDGFRB	5159	HP:0000765	Abnormality of the thorax
ORPHA:2591	PDGFRB	5159	HP:0000944	Abnormality of the metaphysis
ORPHA:2591	PDGFRB	5159	HP:0000169	Gingival fibromatosis
ORPHA:2591	PDGFRB	5159	HP:0003011	Abnormality of the musculature
ORPHA:2591	PDGFRB	5159	HP:0008069	Neoplasm of the skin
ORPHA:2591	PDGFRB	5159	HP:0000929	Abnormality of the skull
ORPHA:2591	PDGFRB	5159	HP:0000934	Chondrocalcinosis
OMIM:616924	NEFH	4744	HP:0002515	Waddling gait
OMIM:616924	NEFH	4744	HP:0002359	Frequent falls
OMIM:616924	NEFH	4744	HP:0003200	Ragged-red muscle fibers
OMIM:616924	NEFH	4744	HP:0003198	Myopathy
OMIM:616924	NEFH	4744	HP:0003390	Sensory axonal neuropathy
OMIM:616924	NEFH	4744	HP:0003557	Increased variability in muscle fiber diameter
OMIM:616924	NEFH	4744	HP:0001265	Hyporeflexia
OMIM:616924	NEFH	4744	HP:0003805	Rimmed vacuoles
OMIM:616924	NEFH	4744	HP:0003828	Variable expressivity
OMIM:616924	NEFH	4744	HP:0001761	Pes cavus
OMIM:616924	NEFH	4744	HP:0003555	Muscle fiber splitting
OMIM:616924	NEFH	4744	HP:0002936	Distal sensory impairment
OMIM:616924	NEFH	4744	HP:0003676	Progressive
OMIM:616924	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:616924	NEFH	4744	HP:0002021	Pyloric stenosis
OMIM:608644	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:608644	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAH5	1767	HP:0012265	Ciliary dyskinesia
OMIM:617442	MSH5	4439	HP:0000876	Oligomenorrhea
OMIM:617442	MSH5	4439	HP:0000007	Autosomal recessive inheritance
OMIM:614961	CHMP1A	5119	HP:0001249	Intellectual disability
OMIM:614961	CHMP1A	5119	HP:0000483	Astigmatism
OMIM:614961	CHMP1A	5119	HP:0002072	Chorea
OMIM:614961	CHMP1A	5119	HP:0001257	Spasticity
OMIM:614961	CHMP1A	5119	HP:0001321	Cerebellar hypoplasia
OMIM:614961	CHMP1A	5119	HP:0001263	Global developmental delay
OMIM:614961	CHMP1A	5119	HP:0000545	Myopia
OMIM:614961	CHMP1A	5119	HP:0001347	Hyperreflexia
OMIM:614961	CHMP1A	5119	HP:0001290	Generalized hypotonia
OMIM:614961	CHMP1A	5119	HP:0002465	Poor speech
OMIM:614961	CHMP1A	5119	HP:0000565	Esotropia
OMIM:614961	CHMP1A	5119	HP:0002365	Hypoplasia of the brainstem
OMIM:614961	CHMP1A	5119	HP:0008936	Muscular hypotonia of the trunk
OMIM:614961	CHMP1A	5119	HP:0001761	Pes cavus
OMIM:614961	CHMP1A	5119	HP:0005484	Postnatal microcephaly
OMIM:614961	CHMP1A	5119	HP:0001762	Talipes equinovarus
OMIM:614961	CHMP1A	5119	HP:0000007	Autosomal recessive inheritance
OMIM:614961	CHMP1A	5119	HP:0000540	Hypermetropia
OMIM:614961	CHMP1A	5119	HP:0001344	Absent speech
OMIM:614961	CHMP1A	5119	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614961	CHMP1A	5119	HP:0003577	Congenital onset
OMIM:614961	CHMP1A	5119	HP:0004684	Talipes valgus
OMIM:257270	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:257270	GRM6	2916	HP:0012047	Hemeralopia
OMIM:257270	GRM6	2916	HP:0000545	Myopia
OMIM:257270	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:614728	CEP63	80254	HP:0004322	Short stature
OMIM:614728	CEP63	80254	HP:0000252	Microcephaly
OMIM:614728	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:614728	CEP63	80254	HP:0001249	Intellectual disability
OMIM:614728	CEP63	80254	HP:0001263	Global developmental delay
OMIM:614728	CEP63	80254	HP:0000750	Delayed speech and language development
ORPHA:3255	CKAP2L	150468	HP:0002007	Frontal bossing
ORPHA:3255	CKAP2L	150468	HP:0002750	Delayed skeletal maturation
ORPHA:3255	CKAP2L	150468	HP:0000426	Prominent nasal bridge
ORPHA:3255	CKAP2L	150468	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3255	CKAP2L	150468	HP:0000252	Microcephaly
ORPHA:3255	CKAP2L	150468	HP:0001249	Intellectual disability
ORPHA:3255	CKAP2L	150468	HP:0000028	Cryptorchidism
ORPHA:3255	CKAP2L	150468	HP:0001263	Global developmental delay
ORPHA:3255	CKAP2L	150468	HP:0000431	Wide nasal bridge
ORPHA:3255	CKAP2L	150468	HP:0001328	Specific learning disability
ORPHA:3255	CKAP2L	150468	HP:0002300	Mutism
ORPHA:3255	CKAP2L	150468	HP:0010529	Echolalia
ORPHA:3255	CKAP2L	150468	HP:0002381	Aphasia
ORPHA:3255	CKAP2L	150468	HP:0003510	Severe short stature
ORPHA:3255	CKAP2L	150468	HP:0002357	Dysphasia
ORPHA:3255	CKAP2L	150468	HP:0006101	Finger syndactyly
ORPHA:3255	CKAP2L	150468	HP:0007598	Bilateral single transverse palmar creases
ORPHA:3255	CKAP2L	150468	HP:0011220	Prominent forehead
ORPHA:3255	CKAP2L	150468	HP:0000445	Wide nose
ORPHA:3255	CKAP2L	150468	HP:0000430	Underdeveloped nasal alae
ORPHA:280	LETM1	3954	HP:0010864	Intellectual disability, severe
ORPHA:280	LETM1	3954	HP:0000648	Optic atrophy
ORPHA:280	LETM1	3954	HP:0000494	Downslanted palpebral fissures
ORPHA:280	LETM1	3954	HP:0009778	Short thumb
ORPHA:280	LETM1	3954	HP:0000028	Cryptorchidism
ORPHA:280	LETM1	3954	HP:0000902	Rib fusion
ORPHA:280	LETM1	3954	HP:0000252	Microcephaly
ORPHA:280	LETM1	3954	HP:0000316	Hypertelorism
ORPHA:280	LETM1	3954	HP:0000347	Micrognathia
ORPHA:280	LETM1	3954	HP:0000508	Ptosis
ORPHA:280	LETM1	3954	HP:0001511	Intrauterine growth retardation
ORPHA:280	LETM1	3954	HP:0000204	Cleft upper lip
ORPHA:280	LETM1	3954	HP:0009890	High anterior hairline
ORPHA:280	LETM1	3954	HP:0008551	Microtia
ORPHA:280	LETM1	3954	HP:0000268	Dolichocephaly
ORPHA:280	LETM1	3954	HP:0000077	Abnormality of the kidney
ORPHA:280	LETM1	3954	HP:0000776	Congenital diaphragmatic hernia
ORPHA:280	LETM1	3954	HP:0001251	Ataxia
ORPHA:280	LETM1	3954	HP:0008830	Hypoplastic pubic rami
ORPHA:280	LETM1	3954	HP:0001263	Global developmental delay
ORPHA:280	LETM1	3954	HP:0001762	Talipes equinovarus
ORPHA:280	LETM1	3954	HP:0000431	Wide nasal bridge
ORPHA:280	LETM1	3954	HP:0001028	Hemangioma
ORPHA:280	LETM1	3954	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:280	LETM1	3954	HP:0001362	Calvarial skull defect
ORPHA:280	LETM1	3954	HP:0001508	Failure to thrive
ORPHA:280	LETM1	3954	HP:0002808	Kyphosis
ORPHA:280	LETM1	3954	HP:0000668	Hypodontia
ORPHA:280	LETM1	3954	HP:0000348	High forehead
ORPHA:280	LETM1	3954	HP:0001558	Decreased fetal movement
ORPHA:280	LETM1	3954	HP:0006655	Rib segmentation abnormalities
ORPHA:280	LETM1	3954	HP:0000612	Iris coloboma
ORPHA:280	LETM1	3954	HP:0002714	Downturned corners of mouth
ORPHA:280	LETM1	3954	HP:0010109	Short hallux
ORPHA:280	LETM1	3954	HP:0001654	Abnormality of the heart valves
ORPHA:280	LETM1	3954	HP:0000047	Hypospadias
ORPHA:280	LETM1	3954	HP:0002007	Frontal bossing
ORPHA:280	LETM1	3954	HP:0002162	Low posterior hairline
ORPHA:280	LETM1	3954	HP:0000365	Hearing impairment
ORPHA:280	LETM1	3954	HP:0001252	Muscular hypotonia
ORPHA:280	LETM1	3954	HP:0001177	Preaxial hand polydactyly
ORPHA:280	LETM1	3954	HP:0001631	Atrial septal defect
ORPHA:280	LETM1	3954	HP:0000286	Epicanthus
ORPHA:280	LETM1	3954	HP:0002750	Delayed skeletal maturation
ORPHA:280	LETM1	3954	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:280	LETM1	3954	HP:0002553	Highly arched eyebrow
ORPHA:280	LETM1	3954	HP:0000960	Sacral dimple
ORPHA:280	LETM1	3954	HP:0001171	Split hand
ORPHA:280	LETM1	3954	HP:0000322	Short philtrum
ORPHA:280	LETM1	3954	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:280	LETM1	3954	HP:0001250	Seizures
ORPHA:280	LETM1	3954	HP:0002144	Tethered cord
ORPHA:280	LETM1	3954	HP:0002650	Scoliosis
ORPHA:280	LETM1	3954	HP:0007385	Aplasia cutis congenita of scalp
ORPHA:280	LETM1	3954	HP:0001166	Arachnodactyly
ORPHA:280	NSD2	7468	HP:0010864	Intellectual disability, severe
ORPHA:280	NSD2	7468	HP:0000648	Optic atrophy
ORPHA:280	NSD2	7468	HP:0000494	Downslanted palpebral fissures
ORPHA:280	NSD2	7468	HP:0009778	Short thumb
ORPHA:280	NSD2	7468	HP:0000028	Cryptorchidism
ORPHA:280	NSD2	7468	HP:0000902	Rib fusion
ORPHA:280	NSD2	7468	HP:0000252	Microcephaly
ORPHA:280	NSD2	7468	HP:0000316	Hypertelorism
ORPHA:280	NSD2	7468	HP:0000347	Micrognathia
ORPHA:280	NSD2	7468	HP:0000508	Ptosis
ORPHA:280	NSD2	7468	HP:0001511	Intrauterine growth retardation
ORPHA:280	NSD2	7468	HP:0000204	Cleft upper lip
ORPHA:280	NSD2	7468	HP:0009890	High anterior hairline
ORPHA:280	NSD2	7468	HP:0008551	Microtia
ORPHA:280	NSD2	7468	HP:0000268	Dolichocephaly
ORPHA:280	NSD2	7468	HP:0000077	Abnormality of the kidney
ORPHA:280	NSD2	7468	HP:0000776	Congenital diaphragmatic hernia
ORPHA:280	NSD2	7468	HP:0001251	Ataxia
ORPHA:280	NSD2	7468	HP:0008830	Hypoplastic pubic rami
ORPHA:280	NSD2	7468	HP:0001263	Global developmental delay
ORPHA:280	NSD2	7468	HP:0001762	Talipes equinovarus
ORPHA:280	NSD2	7468	HP:0000431	Wide nasal bridge
ORPHA:280	NSD2	7468	HP:0001028	Hemangioma
ORPHA:280	NSD2	7468	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:280	NSD2	7468	HP:0001362	Calvarial skull defect
ORPHA:280	NSD2	7468	HP:0001508	Failure to thrive
ORPHA:280	NSD2	7468	HP:0002808	Kyphosis
ORPHA:280	NSD2	7468	HP:0000668	Hypodontia
ORPHA:280	NSD2	7468	HP:0000348	High forehead
ORPHA:280	NSD2	7468	HP:0001558	Decreased fetal movement
ORPHA:280	NSD2	7468	HP:0006655	Rib segmentation abnormalities
ORPHA:280	NSD2	7468	HP:0000612	Iris coloboma
ORPHA:280	NSD2	7468	HP:0002714	Downturned corners of mouth
ORPHA:280	NSD2	7468	HP:0010109	Short hallux
ORPHA:280	NSD2	7468	HP:0001654	Abnormality of the heart valves
ORPHA:280	NSD2	7468	HP:0000047	Hypospadias
ORPHA:280	NSD2	7468	HP:0002007	Frontal bossing
ORPHA:280	NSD2	7468	HP:0002162	Low posterior hairline
ORPHA:280	NSD2	7468	HP:0000365	Hearing impairment
ORPHA:280	NSD2	7468	HP:0001252	Muscular hypotonia
ORPHA:280	NSD2	7468	HP:0001177	Preaxial hand polydactyly
ORPHA:280	NSD2	7468	HP:0001631	Atrial septal defect
ORPHA:280	NSD2	7468	HP:0000286	Epicanthus
ORPHA:280	NSD2	7468	HP:0002750	Delayed skeletal maturation
ORPHA:280	NSD2	7468	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:280	NSD2	7468	HP:0002553	Highly arched eyebrow
ORPHA:280	NSD2	7468	HP:0000960	Sacral dimple
ORPHA:280	NSD2	7468	HP:0001171	Split hand
ORPHA:280	NSD2	7468	HP:0000322	Short philtrum
ORPHA:280	NSD2	7468	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:280	NSD2	7468	HP:0001250	Seizures
ORPHA:280	NSD2	7468	HP:0002144	Tethered cord
ORPHA:280	NSD2	7468	HP:0002650	Scoliosis
ORPHA:280	NSD2	7468	HP:0007385	Aplasia cutis congenita of scalp
ORPHA:280	NSD2	7468	HP:0001166	Arachnodactyly
ORPHA:280	NELFA	7469	HP:0010864	Intellectual disability, severe
ORPHA:280	NELFA	7469	HP:0000648	Optic atrophy
ORPHA:280	NELFA	7469	HP:0000494	Downslanted palpebral fissures
ORPHA:280	NELFA	7469	HP:0009778	Short thumb
ORPHA:280	NELFA	7469	HP:0000028	Cryptorchidism
ORPHA:280	NELFA	7469	HP:0000902	Rib fusion
ORPHA:280	NELFA	7469	HP:0000252	Microcephaly
ORPHA:280	NELFA	7469	HP:0000316	Hypertelorism
ORPHA:280	NELFA	7469	HP:0000347	Micrognathia
ORPHA:280	NELFA	7469	HP:0000508	Ptosis
ORPHA:280	NELFA	7469	HP:0001511	Intrauterine growth retardation
ORPHA:280	NELFA	7469	HP:0000204	Cleft upper lip
ORPHA:280	NELFA	7469	HP:0009890	High anterior hairline
ORPHA:280	NELFA	7469	HP:0008551	Microtia
ORPHA:280	NELFA	7469	HP:0000268	Dolichocephaly
ORPHA:280	NELFA	7469	HP:0000077	Abnormality of the kidney
ORPHA:280	NELFA	7469	HP:0000776	Congenital diaphragmatic hernia
ORPHA:280	NELFA	7469	HP:0001251	Ataxia
ORPHA:280	NELFA	7469	HP:0008830	Hypoplastic pubic rami
ORPHA:280	NELFA	7469	HP:0001263	Global developmental delay
ORPHA:280	NELFA	7469	HP:0001762	Talipes equinovarus
ORPHA:280	NELFA	7469	HP:0000431	Wide nasal bridge
ORPHA:280	NELFA	7469	HP:0001028	Hemangioma
ORPHA:280	NELFA	7469	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:280	NELFA	7469	HP:0001362	Calvarial skull defect
ORPHA:280	NELFA	7469	HP:0001508	Failure to thrive
ORPHA:280	NELFA	7469	HP:0002808	Kyphosis
ORPHA:280	NELFA	7469	HP:0000668	Hypodontia
ORPHA:280	NELFA	7469	HP:0000348	High forehead
ORPHA:280	NELFA	7469	HP:0001558	Decreased fetal movement
ORPHA:280	NELFA	7469	HP:0006655	Rib segmentation abnormalities
ORPHA:280	NELFA	7469	HP:0000612	Iris coloboma
ORPHA:280	NELFA	7469	HP:0002714	Downturned corners of mouth
ORPHA:280	NELFA	7469	HP:0010109	Short hallux
ORPHA:280	NELFA	7469	HP:0001654	Abnormality of the heart valves
ORPHA:280	NELFA	7469	HP:0000047	Hypospadias
ORPHA:280	NELFA	7469	HP:0002007	Frontal bossing
ORPHA:280	NELFA	7469	HP:0002162	Low posterior hairline
ORPHA:280	NELFA	7469	HP:0000365	Hearing impairment
ORPHA:280	NELFA	7469	HP:0001252	Muscular hypotonia
ORPHA:280	NELFA	7469	HP:0001177	Preaxial hand polydactyly
ORPHA:280	NELFA	7469	HP:0001631	Atrial septal defect
ORPHA:280	NELFA	7469	HP:0000286	Epicanthus
ORPHA:280	NELFA	7469	HP:0002750	Delayed skeletal maturation
ORPHA:280	NELFA	7469	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:280	NELFA	7469	HP:0002553	Highly arched eyebrow
ORPHA:280	NELFA	7469	HP:0000960	Sacral dimple
ORPHA:280	NELFA	7469	HP:0001171	Split hand
ORPHA:280	NELFA	7469	HP:0000322	Short philtrum
ORPHA:280	NELFA	7469	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:280	NELFA	7469	HP:0001250	Seizures
ORPHA:280	NELFA	7469	HP:0002144	Tethered cord
ORPHA:280	NELFA	7469	HP:0002650	Scoliosis
ORPHA:280	NELFA	7469	HP:0007385	Aplasia cutis congenita of scalp
ORPHA:280	NELFA	7469	HP:0001166	Arachnodactyly
OMIM:614326	MIR17HG	407975	HP:0001249	Intellectual disability
OMIM:614326	MIR17HG	407975	HP:0000252	Microcephaly
OMIM:614326	MIR17HG	407975	HP:0000006	Autosomal dominant inheritance
OMIM:614326	MIR17HG	407975	HP:0009778	Short thumb
OMIM:614326	MIR17HG	407975	HP:0005819	Short middle phalanx of finger
OMIM:614326	MIR17HG	407975	HP:0001156	Brachydactyly
OMIM:614326	MIR17HG	407975	HP:0004322	Short stature
OMIM:218040	HRAS	3265	HP:0001631	Atrial septal defect
OMIM:218040	HRAS	3265	HP:0002033	Poor suck
OMIM:218040	HRAS	3265	HP:0002780	Bronchomalacia
OMIM:218040	HRAS	3265	HP:0001187	Hyperextensibility of the finger joints
OMIM:218040	HRAS	3265	HP:0001814	Deep-set nails
OMIM:218040	HRAS	3265	HP:0000280	Coarse facial features
OMIM:218040	HRAS	3265	HP:0000358	Posteriorly rotated ears
OMIM:218040	HRAS	3265	HP:0005280	Depressed nasal bridge
OMIM:218040	HRAS	3265	HP:0000347	Micrognathia
OMIM:218040	HRAS	3265	HP:0001629	Ventricular septal defect
OMIM:218040	HRAS	3265	HP:0001598	Concave nail
OMIM:218040	HRAS	3265	HP:0001943	Hypoglycemia
OMIM:218040	HRAS	3265	HP:0002021	Pyloric stenosis
OMIM:218040	HRAS	3265	HP:0002107	Pneumothorax
OMIM:218040	HRAS	3265	HP:0002859	Rhabdomyosarcoma
OMIM:218040	HRAS	3265	HP:0001609	Hoarse voice
OMIM:218040	HRAS	3265	HP:0003764	Nevus
OMIM:218040	HRAS	3265	HP:0000293	Full cheeks
OMIM:218040	HRAS	3265	HP:0000768	Pectus carinatum
OMIM:218040	HRAS	3265	HP:0000179	Thick lower lip vermilion
OMIM:218040	HRAS	3265	HP:0001762	Talipes equinovarus
OMIM:218040	HRAS	3265	HP:0006191	Deep palmar crease
OMIM:218040	HRAS	3265	HP:0001561	Polyhydramnios
OMIM:218040	HRAS	3265	HP:0001699	Sudden death
OMIM:218040	HRAS	3265	HP:0001771	Achilles tendon contracture
OMIM:218040	HRAS	3265	HP:0000158	Macroglossia
OMIM:218040	HRAS	3265	HP:0000286	Epicanthus
OMIM:218040	HRAS	3265	HP:0001552	Barrel-shaped chest
OMIM:218040	HRAS	3265	HP:0000465	Webbed neck
OMIM:218040	HRAS	3265	HP:0001263	Global developmental delay
OMIM:218040	HRAS	3265	HP:0001808	Fragile nails
OMIM:218040	HRAS	3265	HP:0001548	Overgrowth
OMIM:218040	HRAS	3265	HP:0001869	Deep plantar creases
OMIM:218040	HRAS	3265	HP:0002878	Respiratory failure
OMIM:218040	HRAS	3265	HP:0009588	Vestibular Schwannoma
OMIM:218040	HRAS	3265	HP:0000307	Pointed chin
OMIM:218040	HRAS	3265	HP:0002862	Bladder carcinoma
OMIM:218040	HRAS	3265	HP:0000470	Short neck
OMIM:218040	HRAS	3265	HP:0000369	Low-set ears
OMIM:218040	HRAS	3265	HP:0001634	Mitral valve prolapse
OMIM:218040	HRAS	3265	HP:0001622	Premature birth
OMIM:218040	HRAS	3265	HP:0000238	Hydrocephalus
OMIM:218040	HRAS	3265	HP:0002996	Limited elbow movement
OMIM:218040	HRAS	3265	HP:0001642	Pulmonic stenosis
OMIM:218040	HRAS	3265	HP:0000508	Ptosis
OMIM:218040	HRAS	3265	HP:0000218	High palate
OMIM:218040	HRAS	3265	HP:0000953	Hyperpigmentation of the skin
OMIM:218040	HRAS	3265	HP:0001639	Hypertrophic cardiomyopathy
OMIM:218040	HRAS	3265	HP:0000006	Autosomal dominant inheritance
OMIM:218040	HRAS	3265	HP:0000956	Acanthosis nigricans
OMIM:218040	HRAS	3265	HP:0002059	Cerebral atrophy
OMIM:218040	HRAS	3265	HP:0000494	Downslanted palpebral fissures
OMIM:218040	HRAS	3265	HP:0002870	Obstructive sleep apnea
OMIM:218040	HRAS	3265	HP:0004322	Short stature
OMIM:218040	HRAS	3265	HP:0005989	Redundant neck skin
OMIM:218040	HRAS	3265	HP:0003745	Sporadic
OMIM:218040	HRAS	3265	HP:0002212	Curly hair
OMIM:218040	HRAS	3265	HP:0011675	Arrhythmia
OMIM:218040	HRAS	3265	HP:0000463	Anteverted nares
OMIM:218040	HRAS	3265	HP:0000486	Strabismus
OMIM:218040	HRAS	3265	HP:0000256	Macrocephaly
OMIM:218040	HRAS	3265	HP:0000316	Hypertelorism
OMIM:218040	HRAS	3265	HP:0001816	Thin nail
OMIM:218040	HRAS	3265	HP:0007099	Arnold-Chiari type I malformation
OMIM:218040	HRAS	3265	HP:0000260	Wide anterior fontanel
OMIM:218040	HRAS	3265	HP:0012081	Enlarged cerebellum
OMIM:218040	HRAS	3265	HP:0001249	Intellectual disability
OMIM:218040	HRAS	3265	HP:0002779	Tracheomalacia
OMIM:218040	HRAS	3265	HP:0002119	Ventriculomegaly
OMIM:218040	HRAS	3265	HP:0008070	Sparse hair
OMIM:218040	HRAS	3265	HP:0001508	Failure to thrive
OMIM:187800	ITGA2B	3674	HP:0040185	Macrothrombocytopenia
OMIM:187800	ITGA2B	3674	HP:0001902	Giant platelets
OMIM:187800	ITGA2B	3674	HP:0003540	Impaired platelet aggregation
OMIM:187800	ITGA2B	3674	HP:0000967	Petechiae
OMIM:187800	ITGA2B	3674	HP:0000006	Autosomal dominant inheritance
OMIM:187800	ITGA2B	3674	HP:0001903	Anemia
OMIM:187800	ITGB3	3690	HP:0040185	Macrothrombocytopenia
OMIM:187800	ITGB3	3690	HP:0001902	Giant platelets
OMIM:187800	ITGB3	3690	HP:0003540	Impaired platelet aggregation
OMIM:187800	ITGB3	3690	HP:0000967	Petechiae
OMIM:187800	ITGB3	3690	HP:0000006	Autosomal dominant inheritance
OMIM:187800	ITGB3	3690	HP:0001903	Anemia
OMIM:193300	VHL	7428	HP:0001392	Abnormality of the liver
OMIM:193300	VHL	7428	HP:0002666	Pheochromocytoma
OMIM:193300	VHL	7428	HP:0003812	Phenotypic variability
OMIM:193300	VHL	7428	HP:0000006	Autosomal dominant inheritance
OMIM:193300	VHL	7428	HP:0000360	Tinnitus
OMIM:193300	VHL	7428	HP:0005954	Pulmonary capillary hemangiomatosis
OMIM:193300	VHL	7428	HP:0006880	Cerebellar hemangioblastoma
OMIM:193300	VHL	7428	HP:0009713	Spinal hemangioblastoma
OMIM:193300	VHL	7428	HP:0009711	Retinal capillary hemangioma
OMIM:193300	VHL	7428	HP:0030424	Epididymal cyst
OMIM:193300	VHL	7428	HP:0000407	Sensorineural hearing impairment
OMIM:193300	VHL	7428	HP:0005584	Renal cell carcinoma
OMIM:193300	VHL	7428	HP:0005562	Multiple renal cysts
OMIM:193300	VHL	7428	HP:0009715	Papillary cystadenoma of the epididymis
OMIM:193300	VHL	7428	HP:0002668	Paraganglioma
OMIM:193300	VHL	7428	HP:0002321	Vertigo
OMIM:193300	VHL	7428	HP:0000822	Hypertension
OMIM:193300	VHL	7428	HP:0001901	Polycythemia
OMIM:193300	VHL	7428	HP:0001737	Pancreatic cysts
OMIM:193300	VHL	7428	HP:0002894	Neoplasm of the pancreas
OMIM:267430	ACE	1636	HP:0000252	Microcephaly
OMIM:267430	ACE	1636	HP:0000007	Autosomal recessive inheritance
OMIM:267430	ACE	1636	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	ACE	1636	HP:0002615	Hypotension
OMIM:267430	ACE	1636	HP:0001562	Oligohydramnios
OMIM:267430	ACE	1636	HP:0002009	Potter facies
OMIM:267430	ACE	1636	HP:0008660	Renotubular dysgenesis
OMIM:267430	ACE	1636	HP:0002089	Pulmonary hypoplasia
OMIM:267430	ACE	1636	HP:0100519	Anuria
OMIM:267430	ACE	1636	HP:0002093	Respiratory insufficiency
OMIM:267430	REN	5972	HP:0000252	Microcephaly
OMIM:267430	REN	5972	HP:0000007	Autosomal recessive inheritance
OMIM:267430	REN	5972	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	REN	5972	HP:0002615	Hypotension
OMIM:267430	REN	5972	HP:0001562	Oligohydramnios
OMIM:267430	REN	5972	HP:0002009	Potter facies
OMIM:267430	REN	5972	HP:0008660	Renotubular dysgenesis
OMIM:267430	REN	5972	HP:0002089	Pulmonary hypoplasia
OMIM:267430	REN	5972	HP:0100519	Anuria
OMIM:267430	REN	5972	HP:0002093	Respiratory insufficiency
OMIM:267430	AGT	183	HP:0000252	Microcephaly
OMIM:267430	AGT	183	HP:0000007	Autosomal recessive inheritance
OMIM:267430	AGT	183	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	AGT	183	HP:0002615	Hypotension
OMIM:267430	AGT	183	HP:0001562	Oligohydramnios
OMIM:267430	AGT	183	HP:0002009	Potter facies
OMIM:267430	AGT	183	HP:0008660	Renotubular dysgenesis
OMIM:267430	AGT	183	HP:0002089	Pulmonary hypoplasia
OMIM:267430	AGT	183	HP:0100519	Anuria
OMIM:267430	AGT	183	HP:0002093	Respiratory insufficiency
OMIM:267430	AGTR1	185	HP:0000252	Microcephaly
OMIM:267430	AGTR1	185	HP:0000007	Autosomal recessive inheritance
OMIM:267430	AGTR1	185	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	AGTR1	185	HP:0002615	Hypotension
OMIM:267430	AGTR1	185	HP:0001562	Oligohydramnios
OMIM:267430	AGTR1	185	HP:0002009	Potter facies
OMIM:267430	AGTR1	185	HP:0008660	Renotubular dysgenesis
OMIM:267430	AGTR1	185	HP:0002089	Pulmonary hypoplasia
OMIM:267430	AGTR1	185	HP:0100519	Anuria
OMIM:267430	AGTR1	185	HP:0002093	Respiratory insufficiency
ORPHA:2907	FERMT1	55612	HP:0000972	Palmoplantar hyperkeratosis
ORPHA:2907	FERMT1	55612	HP:0010296	Ankyloglossia
ORPHA:2907	FERMT1	55612	HP:0100587	Abnormality of the preputium
ORPHA:2907	FERMT1	55612	HP:0000262	Turricephaly
ORPHA:2907	FERMT1	55612	HP:0000230	Gingivitis
ORPHA:2907	FERMT1	55612	HP:0100669	Abnormal pigmentation of the oral mucosa
ORPHA:2907	FERMT1	55612	HP:0008391	Dystrophic fingernails
ORPHA:2907	FERMT1	55612	HP:0000963	Thin skin
ORPHA:2907	FERMT1	55612	HP:0001810	Dystrophic toenail
ORPHA:2907	FERMT1	55612	HP:0200042	Skin ulcer
ORPHA:2907	FERMT1	55612	HP:0000160	Narrow mouth
ORPHA:2907	FERMT1	55612	HP:0200039	Pustule
ORPHA:2907	FERMT1	55612	HP:0000964	Eczema
ORPHA:2907	FERMT1	55612	HP:0001053	Hypopigmented skin patches
ORPHA:2907	FERMT1	55612	HP:0008064	Ichthyosis
ORPHA:2907	FERMT1	55612	HP:0100585	Telangiectasia of the skin
ORPHA:2907	FERMT1	55612	HP:0002745	Oral leukoplakia
ORPHA:2907	FERMT1	55612	HP:0008066	Abnormal blistering of the skin
ORPHA:2907	FERMT1	55612	HP:0010783	Erythema
ORPHA:2907	FERMT1	55612	HP:0001025	Urticaria
ORPHA:2907	FERMT1	55612	HP:0000217	Xerostomia
ORPHA:2907	FERMT1	55612	HP:0000225	Gingival bleeding
ORPHA:2907	FERMT1	55612	HP:0006323	Premature loss of primary teeth
ORPHA:2907	FERMT1	55612	HP:0007400	Irregular hyperpigmentation
ORPHA:2907	FERMT1	55612	HP:0200034	Papule
ORPHA:436182	NSMCE2	286053	HP:0008193	Primary gonadal insufficiency
ORPHA:436182	NSMCE2	286053	HP:0008890	Severe short-limb dwarfism
ORPHA:436182	NSMCE2	286053	HP:0010620	Malar prominence
ORPHA:436182	NSMCE2	286053	HP:0000347	Micrognathia
ORPHA:436182	NSMCE2	286053	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:436182	NSMCE2	286053	HP:0001397	Hepatic steatosis
ORPHA:436182	NSMCE2	286053	HP:0002155	Hypertriglyceridemia
ORPHA:436182	XRCC4	7518	HP:0008193	Primary gonadal insufficiency
ORPHA:436182	XRCC4	7518	HP:0008890	Severe short-limb dwarfism
ORPHA:436182	XRCC4	7518	HP:0010620	Malar prominence
ORPHA:436182	XRCC4	7518	HP:0000347	Micrognathia
ORPHA:436182	XRCC4	7518	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:436182	XRCC4	7518	HP:0001397	Hepatic steatosis
ORPHA:436182	XRCC4	7518	HP:0002155	Hypertriglyceridemia
ORPHA:1879	LEMD3	23592	HP:0010739	Osteopoikilosis
ORPHA:1879	LEMD3	23592	HP:0003103	Abnormal cortical bone morphology
ORPHA:1879	LEMD3	23592	HP:0010001	Complete duplication of the distal phalanges of the hand
ORPHA:1493	EPG5	57724	HP:0000639	Nystagmus
ORPHA:1493	EPG5	57724	HP:0005999	Ureteral atresia
ORPHA:1493	EPG5	57724	HP:0001274	Agenesis of corpus callosum
ORPHA:1493	EPG5	57724	HP:0001249	Intellectual disability
ORPHA:1493	EPG5	57724	HP:0001250	Seizures
ORPHA:1493	EPG5	57724	HP:0002205	Recurrent respiratory infections
ORPHA:1493	EPG5	57724	HP:0001522	Death in infancy
ORPHA:1493	EPG5	57724	HP:0004322	Short stature
ORPHA:1493	EPG5	57724	HP:0005374	Cellular immunodeficiency
ORPHA:1493	EPG5	57724	HP:0000437	Depressed nasal tip
ORPHA:1493	EPG5	57724	HP:0001638	Cardiomyopathy
ORPHA:1493	EPG5	57724	HP:0001010	Hypopigmentation of the skin
ORPHA:1493	EPG5	57724	HP:0001947	Renal tubular acidosis
ORPHA:1493	EPG5	57724	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1493	EPG5	57724	HP:0001263	Global developmental delay
ORPHA:1493	EPG5	57724	HP:0000218	High palate
ORPHA:1493	EPG5	57724	HP:0000518	Cataract
ORPHA:1493	EPG5	57724	HP:0000648	Optic atrophy
ORPHA:1493	EPG5	57724	HP:0007314	White matter neuronal heterotopia
ORPHA:1493	EPG5	57724	HP:0001252	Muscular hypotonia
ORPHA:1493	EPG5	57724	HP:0002353	EEG abnormality
ORPHA:1493	EPG5	57724	HP:0012110	Hypoplasia of the pons
ORPHA:1493	EPG5	57724	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC1	2067	HP:0002126	Polymicrogyria
OMIM:610758	ERCC1	2067	HP:0003083	Dislocated radial head
OMIM:610758	ERCC1	2067	HP:0001531	Failure to thrive in infancy
OMIM:610758	ERCC1	2067	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610758	ERCC1	2067	HP:0003828	Variable expressivity
OMIM:610758	ERCC1	2067	HP:0001181	Adducted thumb
OMIM:610758	ERCC1	2067	HP:0003100	Slender long bone
OMIM:610758	ERCC1	2067	HP:0000639	Nystagmus
OMIM:610758	ERCC1	2067	HP:0100490	Camptodactyly of finger
OMIM:610758	ERCC1	2067	HP:0001347	Hyperreflexia
OMIM:610758	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:610758	ERCC1	2067	HP:0003577	Congenital onset
OMIM:610758	ERCC1	2067	HP:0005830	Flexion contracture of toe
OMIM:610758	ERCC1	2067	HP:0009879	Cortical gyral simplification
OMIM:610758	ERCC1	2067	HP:0005458	Premature closure of fontanelles
OMIM:610758	ERCC1	2067	HP:0000347	Micrognathia
OMIM:610758	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
OMIM:610758	ERCC1	2067	HP:0000252	Microcephaly
OMIM:610758	ERCC1	2067	HP:0002353	EEG abnormality
OMIM:610758	ERCC1	2067	HP:0001263	Global developmental delay
OMIM:610758	ERCC1	2067	HP:0002751	Kyphoscoliosis
OMIM:610758	ERCC1	2067	HP:0000322	Short philtrum
OMIM:610758	ERCC1	2067	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC1	2067	HP:0000581	Blepharophimosis
OMIM:610758	ERCC1	2067	HP:0002827	Hip dislocation
OMIM:610758	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:610758	ERCC1	2067	HP:0001276	Hypertonia
OMIM:610758	ERCC1	2067	HP:0003015	Flared metaphysis
OMIM:610758	ERCC1	2067	HP:0007633	Bilateral microphthalmos
OMIM:610758	ERCC1	2067	HP:0001838	Rocker bottom foot
OMIM:610758	ERCC1	2067	HP:0000426	Prominent nasal bridge
OMIM:610758	ERCC1	2067	HP:0000490	Deeply set eye
OMIM:610758	ERCC1	2067	HP:0004322	Short stature
OMIM:610205	NOTCH2	4853	HP:0003189	Long nose
OMIM:610205	NOTCH2	4853	HP:0002611	Cholestatic liver disease
OMIM:610205	NOTCH2	4853	HP:0001631	Atrial septal defect
OMIM:610205	NOTCH2	4853	HP:0000107	Renal cyst
OMIM:610205	NOTCH2	4853	HP:0000627	Posterior embryotoxon
OMIM:610205	NOTCH2	4853	HP:0003812	Phenotypic variability
OMIM:610205	NOTCH2	4853	HP:0000822	Hypertension
OMIM:610205	NOTCH2	4853	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:610205	NOTCH2	4853	HP:0000006	Autosomal dominant inheritance
OMIM:610205	NOTCH2	4853	HP:0000093	Proteinuria
OMIM:610205	NOTCH2	4853	HP:0000307	Pointed chin
OMIM:610205	NOTCH2	4853	HP:0000325	Triangular face
OMIM:610205	NOTCH2	4853	HP:0001636	Tetralogy of Fallot
OMIM:610205	NOTCH2	4853	HP:0000089	Renal hypoplasia
OMIM:610205	NOTCH2	4853	HP:0001642	Pulmonic stenosis
OMIM:610205	NOTCH2	4853	HP:0000083	Renal insufficiency
OMIM:610205	NOTCH2	4853	HP:0001947	Renal tubular acidosis
OMIM:610205	NOTCH2	4853	HP:0000337	Broad forehead
OMIM:610205	NOTCH2	4853	HP:0001396	Cholestasis
OMIM:610205	NOTCH2	4853	HP:0000790	Hematuria
ORPHA:452	ARX	170302	HP:0001302	Pachygyria
ORPHA:452	ARX	170302	HP:0002024	Malabsorption
ORPHA:452	ARX	170302	HP:0000028	Cryptorchidism
ORPHA:452	ARX	170302	HP:0001263	Global developmental delay
ORPHA:452	ARX	170302	HP:0001250	Seizures
ORPHA:452	ARX	170302	HP:0000062	Ambiguous genitalia
ORPHA:452	ARX	170302	HP:0000966	Hypohidrosis
ORPHA:452	ARX	170302	HP:0001522	Death in infancy
ORPHA:452	ARX	170302	HP:0002119	Ventriculomegaly
ORPHA:452	ARX	170302	HP:0001252	Muscular hypotonia
ORPHA:452	ARX	170302	HP:0001274	Agenesis of corpus callosum
ORPHA:452	ARX	170302	HP:0000252	Microcephaly
ORPHA:452	ARX	170302	HP:0008736	Hypoplasia of penis
ORPHA:452	ARX	170302	HP:0001249	Intellectual disability
ORPHA:89937	FGF23	8074	HP:0002757	Recurrent fractures
ORPHA:89937	FGF23	8074	HP:0001324	Muscle weakness
ORPHA:89937	FGF23	8074	HP:0003109	Hyperphosphaturia
ORPHA:89937	FGF23	8074	HP:0002148	Hypophosphatemia
ORPHA:89937	FGF23	8074	HP:0002749	Osteomalacia
ORPHA:89937	FGF23	8074	HP:0012378	Fatigue
ORPHA:89937	FGF23	8074	HP:0002653	Bone pain
OMIM:123500	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0100621	Dysgerminoma
OMIM:123500	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:123500	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0010535	Sleep apnea
OMIM:123500	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123500	FGFR2	2263	HP:0000678	Dental crowding
OMIM:123500	FGFR2	2263	HP:0003319	Abnormality of the cervical spine
OMIM:123500	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:123500	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:123500	FGFR2	2263	HP:0000586	Shallow orbits
OMIM:123500	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
OMIM:123500	FGFR2	2263	HP:0001250	Seizures
OMIM:123500	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:123500	FGFR2	2263	HP:0000405	Conductive hearing impairment
OMIM:123500	FGFR2	2263	HP:0000486	Strabismus
OMIM:123500	FGFR2	2263	HP:0000648	Optic atrophy
OMIM:123500	FGFR2	2263	HP:0000509	Conjunctivitis
OMIM:123500	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:123500	FGFR2	2263	HP:0001739	Abnormality of the nasopharynx
OMIM:123500	FGFR2	2263	HP:0004442	Sagittal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0000505	Visual impairment
OMIM:123500	FGFR2	2263	HP:0004439	Craniofacial dysostosis
ORPHA:90318	COL5A1	1289	HP:0000978	Bruising susceptibility
ORPHA:90318	COL5A1	1289	HP:0001724	Aortic dilatation
ORPHA:90318	COL5A1	1289	HP:0005692	Joint hyperflexibility
ORPHA:90318	COL5A1	1289	HP:0000977	Soft skin
ORPHA:90318	COL5A1	1289	HP:0001073	Cigarette-paper scars
ORPHA:90318	COL5A1	1289	HP:0000974	Hyperextensible skin
ORPHA:90318	COL5A1	1289	HP:0002020	Gastroesophageal reflux
ORPHA:90318	COL5A1	1289	HP:0000768	Pectus carinatum
ORPHA:90318	COL5A1	1289	HP:0001537	Umbilical hernia
ORPHA:90318	COL5A1	1289	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90318	COL5A1	1289	HP:0000963	Thin skin
ORPHA:90318	COL5A1	1289	HP:0002619	Varicose veins
ORPHA:90318	COL5A1	1289	HP:0000767	Pectus excavatum
ORPHA:90318	COL5A1	1289	HP:0001763	Pes planus
ORPHA:90318	COL5A1	1289	HP:0100541	Femoral hernia
ORPHA:90318	COL5A1	1289	HP:0000023	Inguinal hernia
ORPHA:90318	COL5A2	1290	HP:0000978	Bruising susceptibility
ORPHA:90318	COL5A2	1290	HP:0001724	Aortic dilatation
ORPHA:90318	COL5A2	1290	HP:0005692	Joint hyperflexibility
ORPHA:90318	COL5A2	1290	HP:0000977	Soft skin
ORPHA:90318	COL5A2	1290	HP:0001073	Cigarette-paper scars
ORPHA:90318	COL5A2	1290	HP:0000974	Hyperextensible skin
ORPHA:90318	COL5A2	1290	HP:0002020	Gastroesophageal reflux
ORPHA:90318	COL5A2	1290	HP:0000768	Pectus carinatum
ORPHA:90318	COL5A2	1290	HP:0001537	Umbilical hernia
ORPHA:90318	COL5A2	1290	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90318	COL5A2	1290	HP:0000963	Thin skin
ORPHA:90318	COL5A2	1290	HP:0002619	Varicose veins
ORPHA:90318	COL5A2	1290	HP:0000767	Pectus excavatum
ORPHA:90318	COL5A2	1290	HP:0001763	Pes planus
ORPHA:90318	COL5A2	1290	HP:0100541	Femoral hernia
ORPHA:90318	COL5A2	1290	HP:0000023	Inguinal hernia
ORPHA:90318	COL1A1	1277	HP:0000978	Bruising susceptibility
ORPHA:90318	COL1A1	1277	HP:0001724	Aortic dilatation
ORPHA:90318	COL1A1	1277	HP:0005692	Joint hyperflexibility
ORPHA:90318	COL1A1	1277	HP:0000977	Soft skin
ORPHA:90318	COL1A1	1277	HP:0001073	Cigarette-paper scars
ORPHA:90318	COL1A1	1277	HP:0000974	Hyperextensible skin
ORPHA:90318	COL1A1	1277	HP:0002020	Gastroesophageal reflux
ORPHA:90318	COL1A1	1277	HP:0000768	Pectus carinatum
ORPHA:90318	COL1A1	1277	HP:0001537	Umbilical hernia
ORPHA:90318	COL1A1	1277	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90318	COL1A1	1277	HP:0000963	Thin skin
ORPHA:90318	COL1A1	1277	HP:0002619	Varicose veins
ORPHA:90318	COL1A1	1277	HP:0000767	Pectus excavatum
ORPHA:90318	COL1A1	1277	HP:0001763	Pes planus
ORPHA:90318	COL1A1	1277	HP:0100541	Femoral hernia
ORPHA:90318	COL1A1	1277	HP:0000023	Inguinal hernia
OMIM:613795	SMAD3	4088	HP:0100775	Dural ectasia
OMIM:613795	SMAD3	4088	HP:0008843	Hip osteoarthritis
OMIM:613795	SMAD3	4088	HP:0001712	Left ventricular hypertrophy
OMIM:613795	SMAD3	4088	HP:0005116	Arterial tortuosity
OMIM:613795	SMAD3	4088	HP:0004942	Aortic aneurysm
OMIM:613795	SMAD3	4088	HP:0005110	Atrial fibrillation
OMIM:613795	SMAD3	4088	HP:0005086	Knee osteoarthritis
OMIM:613795	SMAD3	4088	HP:0001653	Mitral regurgitation
OMIM:613795	SMAD3	4088	HP:0002647	Aortic dissection
OMIM:613795	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:613795	SMAD3	4088	HP:0002650	Scoliosis
OMIM:613795	SMAD3	4088	HP:0001537	Umbilical hernia
OMIM:613795	SMAD3	4088	HP:0000218	High palate
OMIM:613795	SMAD3	4088	HP:0000023	Inguinal hernia
OMIM:613795	SMAD3	4088	HP:0012385	Camptodactyly
OMIM:613795	SMAD3	4088	HP:0000139	Uterine prolapse
OMIM:613795	SMAD3	4088	HP:0001065	Striae distensae
OMIM:613795	SMAD3	4088	HP:0000978	Bruising susceptibility
OMIM:613795	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:613795	SMAD3	4088	HP:0008419	Intervertebral disc degeneration
OMIM:613795	SMAD3	4088	HP:0001388	Joint laxity
OMIM:613795	SMAD3	4088	HP:0003302	Spondylolisthesis
OMIM:613795	SMAD3	4088	HP:0001763	Pes planus
OMIM:613795	SMAD3	4088	HP:0000316	Hypertelorism
OMIM:613795	SMAD3	4088	HP:0000766	Abnormality of the sternum
OMIM:613795	SMAD3	4088	HP:0001659	Aortic regurgitation
OMIM:613795	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:613795	SMAD3	4088	HP:0000689	Dental malocclusion
OMIM:613795	SMAD3	4088	HP:0010886	Osteochondritis Dissecans
OMIM:613795	SMAD3	4088	HP:0003179	Protrusio acetabuli
OMIM:609909	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:609909	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:609909	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:609909	PLN	5350	HP:0006673	Reduced systolic function
ORPHA:602	GNE	10020	HP:0003805	Rimmed vacuoles
ORPHA:602	GNE	10020	HP:0012515	Hip flexor weakness
ORPHA:602	GNE	10020	HP:0006467	Limited shoulder movement
ORPHA:602	GNE	10020	HP:0006251	Limited wrist extension
ORPHA:602	GNE	10020	HP:0030007	EMG: positive sharp waves
ORPHA:602	GNE	10020	HP:0003438	Absent Achilles reflex
ORPHA:602	GNE	10020	HP:0008963	Tibialis muscle weakness
ORPHA:602	GNE	10020	HP:0012548	Fatty replacement of skeletal muscle
ORPHA:602	GNE	10020	HP:0100299	Muscle fiber inclusion bodies
ORPHA:602	GNE	10020	HP:0000821	Hypothyroidism
ORPHA:602	GNE	10020	HP:0003376	Steppage gait
ORPHA:602	GNE	10020	HP:0003458	EMG: myopathic abnormalities
ORPHA:602	GNE	10020	HP:0003547	Shoulder girdle muscle weakness
ORPHA:602	GNE	10020	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:602	GNE	10020	HP:0100284	EMG: myotonic discharges
ORPHA:602	GNE	10020	HP:0009027	Foot dorsiflexor weakness
ORPHA:602	GNE	10020	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:602	SQSTM1	8878	HP:0003805	Rimmed vacuoles
ORPHA:602	SQSTM1	8878	HP:0012515	Hip flexor weakness
ORPHA:602	SQSTM1	8878	HP:0006467	Limited shoulder movement
ORPHA:602	SQSTM1	8878	HP:0006251	Limited wrist extension
ORPHA:602	SQSTM1	8878	HP:0030007	EMG: positive sharp waves
ORPHA:602	SQSTM1	8878	HP:0003438	Absent Achilles reflex
ORPHA:602	SQSTM1	8878	HP:0008963	Tibialis muscle weakness
ORPHA:602	SQSTM1	8878	HP:0012548	Fatty replacement of skeletal muscle
ORPHA:602	SQSTM1	8878	HP:0100299	Muscle fiber inclusion bodies
ORPHA:602	SQSTM1	8878	HP:0000821	Hypothyroidism
ORPHA:602	SQSTM1	8878	HP:0003376	Steppage gait
ORPHA:602	SQSTM1	8878	HP:0003458	EMG: myopathic abnormalities
ORPHA:602	SQSTM1	8878	HP:0003547	Shoulder girdle muscle weakness
ORPHA:602	SQSTM1	8878	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:602	SQSTM1	8878	HP:0100284	EMG: myotonic discharges
ORPHA:602	SQSTM1	8878	HP:0009027	Foot dorsiflexor weakness
ORPHA:602	SQSTM1	8878	HP:0003557	Increased variability in muscle fiber diameter
OMIM:190350	TRPS1	7227	HP:0000219	Thin upper lip vermilion
OMIM:190350	TRPS1	7227	HP:0002758	Osteoarthritis
OMIM:190350	TRPS1	7227	HP:0011823	Chin with horizontal crease
OMIM:190350	TRPS1	7227	HP:0001598	Concave nail
OMIM:190350	TRPS1	7227	HP:0000691	Microdontia
OMIM:190350	TRPS1	7227	HP:0010300	Abnormally low-pitched voice
OMIM:190350	TRPS1	7227	HP:0000447	Pear-shaped nose
OMIM:190350	TRPS1	7227	HP:0045074	Thin eyebrow
OMIM:190350	TRPS1	7227	HP:0002002	Deep philtrum
OMIM:190350	TRPS1	7227	HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand
OMIM:190350	TRPS1	7227	HP:0001820	Leukonychia
OMIM:190350	TRPS1	7227	HP:0002205	Recurrent respiratory infections
OMIM:190350	TRPS1	7227	HP:0002650	Scoliosis
OMIM:190350	TRPS1	7227	HP:0000400	Macrotia
OMIM:190350	TRPS1	7227	HP:0001290	Generalized hypotonia
OMIM:190350	TRPS1	7227	HP:0006253	Swelling of proximal interphalangeal joints
OMIM:190350	TRPS1	7227	HP:0010049	Short metacarpal
OMIM:190350	TRPS1	7227	HP:0000347	Micrognathia
OMIM:190350	TRPS1	7227	HP:0003307	Hyperlordosis
OMIM:190350	TRPS1	7227	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:190350	TRPS1	7227	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand
OMIM:190350	TRPS1	7227	HP:0000189	Narrow palate
OMIM:190350	TRPS1	7227	HP:0001816	Thin nail
OMIM:190350	TRPS1	7227	HP:0000006	Autosomal dominant inheritance
OMIM:190350	TRPS1	7227	HP:0000689	Dental malocclusion
OMIM:190350	TRPS1	7227	HP:0000411	Protruding ear
OMIM:190350	TRPS1	7227	HP:0000768	Pectus carinatum
OMIM:190350	TRPS1	7227	HP:0005338	Sparse lateral eyebrow
OMIM:190350	TRPS1	7227	HP:0010252	Ivory epiphyses of the distal phalanges of the hand
OMIM:190350	TRPS1	7227	HP:0002217	Slow-growing hair
OMIM:190350	TRPS1	7227	HP:0001763	Pes planus
OMIM:190350	TRPS1	7227	HP:0000343	Long philtrum
OMIM:190350	TRPS1	7227	HP:0000684	Delayed eruption of teeth
OMIM:190350	TRPS1	7227	HP:0002829	Arthralgia
OMIM:190350	TRPS1	7227	HP:0008947	Infantile muscular hypotonia
OMIM:190350	TRPS1	7227	HP:0002213	Fine hair
OMIM:190350	TRPS1	7227	HP:0003279	Coxa magna
OMIM:190350	TRPS1	7227	HP:0000670	Carious teeth
OMIM:190350	TRPS1	7227	HP:0002750	Delayed skeletal maturation
OMIM:190350	TRPS1	7227	HP:0003370	Flat capital femoral epiphysis
OMIM:190350	TRPS1	7227	HP:0004322	Short stature
OMIM:190350	TRPS1	7227	HP:0008070	Sparse hair
OMIM:190350	TRPS1	7227	HP:0010743	Short metatarsal
OMIM:190350	TRPS1	7227	HP:0002805	Accelerated bone age after puberty
OMIM:190350	TRPS1	7227	HP:0000938	Osteopenia
OMIM:190350	TRPS1	7227	HP:0003691	Scapular winging
OMIM:606764	PDGFRA	5156	HP:0001067	Neurofibromas
OMIM:606764	PDGFRA	5156	HP:0000006	Autosomal dominant inheritance
OMIM:606764	PDGFRA	5156	HP:0003745	Sporadic
OMIM:606764	PDGFRA	5156	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	PDGFRA	5156	HP:0002019	Constipation
OMIM:606764	PDGFRA	5156	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	PDGFRA	5156	HP:0002015	Dysphagia
OMIM:606764	PDGFRA	5156	HP:0001176	Large hands
OMIM:606764	PDGFRA	5156	HP:0001025	Urticaria
OMIM:606764	PDGFRA	5156	HP:0005214	Intestinal obstruction
OMIM:606764	SDHB	6390	HP:0001067	Neurofibromas
OMIM:606764	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:606764	SDHB	6390	HP:0003745	Sporadic
OMIM:606764	SDHB	6390	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	SDHB	6390	HP:0002019	Constipation
OMIM:606764	SDHB	6390	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	SDHB	6390	HP:0002015	Dysphagia
OMIM:606764	SDHB	6390	HP:0001176	Large hands
OMIM:606764	SDHB	6390	HP:0001025	Urticaria
OMIM:606764	SDHB	6390	HP:0005214	Intestinal obstruction
OMIM:606764	KIT	3815	HP:0001067	Neurofibromas
OMIM:606764	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:606764	KIT	3815	HP:0003745	Sporadic
OMIM:606764	KIT	3815	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	KIT	3815	HP:0002019	Constipation
OMIM:606764	KIT	3815	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	KIT	3815	HP:0002015	Dysphagia
OMIM:606764	KIT	3815	HP:0001176	Large hands
OMIM:606764	KIT	3815	HP:0001025	Urticaria
OMIM:606764	KIT	3815	HP:0005214	Intestinal obstruction
OMIM:606764	SDHC	6391	HP:0001067	Neurofibromas
OMIM:606764	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:606764	SDHC	6391	HP:0003745	Sporadic
OMIM:606764	SDHC	6391	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	SDHC	6391	HP:0002019	Constipation
OMIM:606764	SDHC	6391	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	SDHC	6391	HP:0002015	Dysphagia
OMIM:606764	SDHC	6391	HP:0001176	Large hands
OMIM:606764	SDHC	6391	HP:0001025	Urticaria
OMIM:606764	SDHC	6391	HP:0005214	Intestinal obstruction
OMIM:616515	RIPOR2	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:616515	RIPOR2	9750	HP:0000007	Autosomal recessive inheritance
ORPHA:624	GNAQ	2776	HP:0100026	Arteriovenous malformation
ORPHA:624	GNAQ	2776	HP:0001052	Nevus flammeus
ORPHA:624	GNAQ	2776	HP:0200034	Papule
ORPHA:624	GNAQ	2776	HP:0001034	Hypermelanotic macule
OMIM:248200	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:248200	ABCA4	24	HP:0008035	Retinitis pigmentosa inversa
OMIM:248200	ABCA4	24	HP:0000608	Macular degeneration
OMIM:248200	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:248200	CNGB3	54714	HP:0008035	Retinitis pigmentosa inversa
OMIM:248200	CNGB3	54714	HP:0000608	Macular degeneration
OMIM:610599	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:610599	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRCD	768206	HP:0000608	Macular degeneration
OMIM:604093	LRP1	4035	HP:0000007	Autosomal recessive inheritance
OMIM:608389	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608389	SIX1	6495	HP:0009796	Branchial cyst
OMIM:608389	SIX1	6495	HP:0007678	Lacrimal duct stenosis
OMIM:608389	SIX1	6495	HP:0004467	Preauricular pit
OMIM:608389	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:608389	SIX1	6495	HP:0000384	Preauricular skin tag
OMIM:608389	SIX1	6495	HP:0002710	Commissural lip pit
ORPHA:85328	HUWE1	10075	HP:0001256	Intellectual disability, mild
ORPHA:85328	HUWE1	10075	HP:0002342	Intellectual disability, moderate
ORPHA:85328	HUWE1	10075	HP:0000256	Macrocephaly
ORPHA:85328	HUWE1	10075	HP:0000280	Coarse facial features
ORPHA:85328	HUWE1	10075	HP:0010864	Intellectual disability, severe
ORPHA:85328	HUWE1	10075	HP:0000750	Delayed speech and language development
OMIM:608874	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:608874	MSX1	4487	HP:0000204	Cleft upper lip
OMIM:608874	MSX1	4487	HP:0000175	Cleft palate
OMIM:250410	CWC27	10283	HP:0000510	Rod-cone dystrophy
OMIM:250410	CWC27	10283	HP:0001629	Ventricular septal defect
OMIM:250410	CWC27	10283	HP:0000085	Horseshoe kidney
OMIM:250410	CWC27	10283	HP:0000007	Autosomal recessive inheritance
OMIM:250410	CWC27	10283	HP:0001363	Craniosynostosis
OMIM:250410	CWC27	10283	HP:0000369	Low-set ears
OMIM:250410	CWC27	10283	HP:0000347	Micrognathia
OMIM:250410	CWC27	10283	HP:0000400	Macrotia
OMIM:250410	CWC27	10283	HP:0001156	Brachydactyly
OMIM:250410	CWC27	10283	HP:0000750	Delayed speech and language development
OMIM:250410	CWC27	10283	HP:0010049	Short metacarpal
OMIM:250410	CWC27	10283	HP:0001263	Global developmental delay
OMIM:250410	CWC27	10283	HP:0001249	Intellectual disability
OMIM:250410	CWC27	10283	HP:0002007	Frontal bossing
OMIM:250410	CWC27	10283	HP:0005871	Metaphyseal chondrodysplasia
OMIM:250410	CWC27	10283	HP:0011968	Feeding difficulties
OMIM:250410	CWC27	10283	HP:0000430	Underdeveloped nasal alae
OMIM:250410	CWC27	10283	HP:0000494	Downslanted palpebral fissures
OMIM:250410	CWC27	10283	HP:0009882	Short distal phalanx of finger
OMIM:250410	CWC27	10283	HP:0000107	Renal cyst
OMIM:250410	CWC27	10283	HP:0004322	Short stature
OMIM:601410	HYMAI	57061	HP:0001525	Severe failure to thrive
OMIM:601410	HYMAI	57061	HP:0001944	Dehydration
OMIM:601410	HYMAI	57061	HP:0008255	Transient neonatal diabetes mellitus
OMIM:601410	HYMAI	57061	HP:0001511	Intrauterine growth retardation
OMIM:601410	HYMAI	57061	HP:0003074	Hyperglycemia
OMIM:601410	ZFP57	346171	HP:0001525	Severe failure to thrive
OMIM:601410	ZFP57	346171	HP:0001944	Dehydration
OMIM:601410	ZFP57	346171	HP:0008255	Transient neonatal diabetes mellitus
OMIM:601410	ZFP57	346171	HP:0001511	Intrauterine growth retardation
OMIM:601410	ZFP57	346171	HP:0003074	Hyperglycemia
OMIM:255125	ISCU	23479	HP:0003128	Lactic acidosis
OMIM:255125	ISCU	23479	HP:0000007	Autosomal recessive inheritance
OMIM:255125	ISCU	23479	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:255125	ISCU	23479	HP:0003198	Myopathy
OMIM:255125	ISCU	23479	HP:0011924	Decreased activity of mitochondrial complex III
OMIM:255125	ISCU	23479	HP:0001324	Muscle weakness
OMIM:255125	ISCU	23479	HP:0002094	Dyspnea
OMIM:255125	ISCU	23479	HP:0002151	Increased serum lactate
OMIM:255125	ISCU	23479	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255125	ISCU	23479	HP:0012240	Increased intramyocellular lipid droplets
OMIM:255125	ISCU	23479	HP:0001924	Sideroblastic anemia
OMIM:255125	ISCU	23479	HP:0003394	Muscle cramps
OMIM:255125	ISCU	23479	HP:0003546	Exercise intolerance
OMIM:255125	ISCU	23479	HP:0002913	Myoglobinuria
OMIM:255125	ISCU	23479	HP:0008314	Decreased activity of mitochondrial complex II
OMIM:255125	ISCU	23479	HP:0011923	Decreased activity of mitochondrial complex I
OMIM:255125	ISCU	23479	HP:0001962	Palpitations
OMIM:255125	ISCU	23479	HP:0003621	Juvenile onset
OMIM:255125	ISCU	23479	HP:0008306	Abnormal iron deposition in mitochondria
OMIM:255125	ISCU	23479	HP:0003737	Mitochondrial myopathy
ORPHA:308	CSTB	1476	HP:0002070	Limb ataxia
ORPHA:308	CSTB	1476	HP:0001260	Dysarthria
ORPHA:308	CSTB	1476	HP:0002080	Intention tremor
ORPHA:308	CSTB	1476	HP:0002392	EEG with polyspike wave complexes
ORPHA:308	CSTB	1476	HP:0007000	Morning myoclonic jerks
ORPHA:308	SCARB2	950	HP:0002070	Limb ataxia
ORPHA:308	SCARB2	950	HP:0001260	Dysarthria
ORPHA:308	SCARB2	950	HP:0002080	Intention tremor
ORPHA:308	SCARB2	950	HP:0002392	EEG with polyspike wave complexes
ORPHA:308	SCARB2	950	HP:0007000	Morning myoclonic jerks
ORPHA:308	PRICKLE1	144165	HP:0002070	Limb ataxia
ORPHA:308	PRICKLE1	144165	HP:0001260	Dysarthria
ORPHA:308	PRICKLE1	144165	HP:0002080	Intention tremor
ORPHA:308	PRICKLE1	144165	HP:0002392	EEG with polyspike wave complexes
ORPHA:308	PRICKLE1	144165	HP:0007000	Morning myoclonic jerks
OMIM:610212	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:610212	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:607634	LRP5	4041	HP:0000405	Conductive hearing impairment
OMIM:607634	LRP5	4041	HP:0005789	Generalized osteosclerosis
OMIM:607634	LRP5	4041	HP:0000925	Abnormality of the vertebral column
OMIM:607634	LRP5	4041	HP:0002315	Headache
OMIM:607634	LRP5	4041	HP:0011002	Osteopetrosis
OMIM:607634	LRP5	4041	HP:0001425	Heterogeneous
OMIM:607634	LRP5	4041	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:607634	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:607634	LRP5	4041	HP:0002684	Thickened calvaria
ORPHA:1358	MYMK	389827	HP:0000175	Cleft palate
ORPHA:1358	MYMK	389827	HP:0000347	Micrognathia
ORPHA:1358	MYMK	389827	HP:0000508	Ptosis
ORPHA:1358	MYMK	389827	HP:0000634	Impaired ocular abduction
ORPHA:1358	MYMK	389827	HP:0000343	Long philtrum
ORPHA:1358	MYMK	389827	HP:0001252	Muscular hypotonia
ORPHA:1358	MYMK	389827	HP:0000286	Epicanthus
ORPHA:1358	MYMK	389827	HP:0001156	Brachydactyly
ORPHA:1358	MYMK	389827	HP:0000463	Anteverted nares
ORPHA:1358	MYMK	389827	HP:0000162	Glossoptosis
ORPHA:1358	MYMK	389827	HP:0003196	Short nose
ORPHA:1358	MYMK	389827	HP:0000494	Downslanted palpebral fissures
ORPHA:1358	MYMK	389827	HP:0000252	Microcephaly
ORPHA:1358	MYMK	389827	HP:0000218	High palate
ORPHA:1358	MYMK	389827	HP:0000233	Thin vermilion border
ORPHA:1358	MYMK	389827	HP:0000201	Pierre-Robin sequence
ORPHA:1358	MYMK	389827	HP:0003202	Skeletal muscle atrophy
ORPHA:1358	MYMK	389827	HP:0004322	Short stature
ORPHA:1358	MYMK	389827	HP:0010628	Facial palsy
ORPHA:1358	MYMK	389827	HP:0001249	Intellectual disability
ORPHA:1358	MYMK	389827	HP:0001762	Talipes equinovarus
ORPHA:1358	MYMK	389827	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHA:1358	MYMK	389827	HP:0002650	Scoliosis
OMIM:200150	VPS13A	23230	HP:0000763	Sensory neuropathy
OMIM:200150	VPS13A	23230	HP:0001761	Pes cavus
OMIM:200150	VPS13A	23230	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements
OMIM:200150	VPS13A	23230	HP:0000007	Autosomal recessive inheritance
OMIM:200150	VPS13A	23230	HP:0001284	Areflexia
OMIM:200150	VPS13A	23230	HP:0100033	Tics
OMIM:200150	VPS13A	23230	HP:0002015	Dysphagia
OMIM:200150	VPS13A	23230	HP:0002310	Orofacial dyskinesia
OMIM:200150	VPS13A	23230	HP:0003236	Elevated serum creatine phosphokinase
OMIM:200150	VPS13A	23230	HP:0000739	Anxiety
OMIM:200150	VPS13A	23230	HP:0001260	Dysarthria
OMIM:200150	VPS13A	23230	HP:0000751	Personality changes
OMIM:200150	VPS13A	23230	HP:0001265	Hyporeflexia
OMIM:200150	VPS13A	23230	HP:0000718	Aggressive behavior
OMIM:200150	VPS13A	23230	HP:0001927	Acanthocytosis
OMIM:200150	VPS13A	23230	HP:0001575	Mood changes
OMIM:200150	VPS13A	23230	HP:0007326	Progressive choreoathetosis
OMIM:200150	VPS13A	23230	HP:0003202	Skeletal muscle atrophy
OMIM:200150	VPS13A	23230	HP:0001250	Seizures
OMIM:200150	VPS13A	23230	HP:0003690	Limb muscle weakness
OMIM:200150	VPS13A	23230	HP:0000734	Disinhibition
OMIM:200150	VPS13A	23230	HP:0001332	Dystonia
OMIM:200150	VPS13A	23230	HP:0003676	Progressive
OMIM:200150	VPS13A	23230	HP:0002307	Drooling
OMIM:200150	VPS13A	23230	HP:0001300	Parkinsonism
OMIM:200150	VPS13A	23230	HP:0002340	Caudate atrophy
OMIM:200150	VPS13A	23230	HP:0000709	Psychosis
OMIM:613702	GDF3	9573	HP:0002650	Scoliosis
OMIM:613702	GDF3	9573	HP:0007748	Irido-fundal coloboma
OMIM:613702	GDF3	9573	HP:0004602	Cervical C2/C3 vertebral fusion
OMIM:613702	GDF3	9573	HP:0004635	Cervical C5/C6 vertebrae fusion
OMIM:613702	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:613204	ITGA7	3679	HP:0002650	Scoliosis
OMIM:613204	ITGA7	3679	HP:0001319	Neonatal hypotonia
OMIM:613204	ITGA7	3679	HP:0000007	Autosomal recessive inheritance
OMIM:613204	ITGA7	3679	HP:0100543	Cognitive impairment
OMIM:613204	ITGA7	3679	HP:0001249	Intellectual disability
OMIM:613204	ITGA7	3679	HP:0001270	Motor delay
OMIM:613204	ITGA7	3679	HP:0003202	Skeletal muscle atrophy
OMIM:613204	ITGA7	3679	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613204	ITGA7	3679	HP:0003593	Infantile onset
OMIM:613204	ITGA7	3679	HP:0008947	Infantile muscular hypotonia
OMIM:613204	ITGA7	3679	HP:0003557	Increased variability in muscle fiber diameter
OMIM:613204	ITGA7	3679	HP:0012548	Fatty replacement of skeletal muscle
OMIM:613204	ITGA7	3679	HP:0003741	Congenital muscular dystrophy
OMIM:613204	ITGA7	3679	HP:0003198	Myopathy
OMIM:612079	RBM28	55131	HP:0000670	Carious teeth
OMIM:612079	RBM28	55131	HP:0000953	Hyperpigmentation of the skin
OMIM:612079	RBM28	55131	HP:0009487	Ulnar deviation of the hand
OMIM:612079	RBM28	55131	HP:0002751	Kyphoscoliosis
OMIM:612079	RBM28	55131	HP:0000007	Autosomal recessive inheritance
OMIM:612079	RBM28	55131	HP:0000668	Hypodontia
OMIM:612079	RBM28	55131	HP:0002333	Motor deterioration
OMIM:612079	RBM28	55131	HP:0011734	Central adrenal insufficiency
OMIM:612079	RBM28	55131	HP:0000995	Melanocytic nevus
OMIM:612079	RBM28	55131	HP:0001596	Alopecia
OMIM:612079	RBM28	55131	HP:0002493	Upper motor neuron dysfunction
OMIM:612079	RBM28	55131	HP:0000252	Microcephaly
OMIM:612079	RBM28	55131	HP:0001371	Flexion contracture
OMIM:612079	RBM28	55131	HP:0000135	Hypogonadism
OMIM:612079	RBM28	55131	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:612079	RBM28	55131	HP:0000771	Gynecomastia
OMIM:612079	RBM28	55131	HP:0003202	Skeletal muscle atrophy
OMIM:612079	RBM28	55131	HP:0001249	Intellectual disability
OMIM:612079	RBM28	55131	HP:0000823	Delayed puberty
OMIM:614278	PLA2G7	7941	HP:0040178	Increased level of platelet-activating factor
OMIM:614278	PLA2G7	7941	HP:0040175	Platelet-activating factor acetylhydrolase deficiency
OMIM:612577	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:612577	FIG4	9896	HP:0002483	Bulbar signs
OMIM:612577	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:612577	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	FIG4	9896	HP:0002493	Upper motor neuron dysfunction
OMIM:613708	ATL1	51062	HP:0002164	Nail dysplasia
OMIM:613708	ATL1	51062	HP:0003401	Paresthesia
OMIM:613708	ATL1	51062	HP:0003581	Adult onset
OMIM:613708	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:613708	ATL1	51062	HP:0003693	Distal amyotrophy
OMIM:613708	ATL1	51062	HP:0008404	Nail dystrophy
OMIM:613708	ATL1	51062	HP:0001761	Pes cavus
OMIM:613708	ATL1	51062	HP:0003477	Peripheral axonal neuropathy
OMIM:613708	ATL1	51062	HP:0002936	Distal sensory impairment
OMIM:613708	ATL1	51062	HP:0001218	Autoamputation
OMIM:613708	ATL1	51062	HP:0006984	Distal sensory loss of all modalities
OMIM:613708	ATL1	51062	HP:0003676	Progressive
OMIM:608996	FOXL2	668	HP:0008209	Premature ovarian insufficiency
OMIM:608996	FOXL2	668	HP:0000013	Hypoplasia of the uterus
OMIM:608996	FOXL2	668	HP:0000869	Secondary amenorrhea
OMIM:608996	FOXL2	668	HP:0000006	Autosomal dominant inheritance
OMIM:304120	FLNA	2316	HP:0000926	Platyspondyly
OMIM:304120	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:304120	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:304120	FLNA	2316	HP:0002694	Sclerosis of skull base
OMIM:304120	FLNA	2316	HP:0002980	Femoral bowing
OMIM:304120	FLNA	2316	HP:0011304	Broad thumb
OMIM:304120	FLNA	2316	HP:0010049	Short metacarpal
OMIM:304120	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:304120	FLNA	2316	HP:0000028	Cryptorchidism
OMIM:304120	FLNA	2316	HP:0000347	Micrognathia
OMIM:304120	FLNA	2316	HP:0000405	Conductive hearing impairment
OMIM:304120	FLNA	2316	HP:0000047	Hypospadias
OMIM:304120	FLNA	2316	HP:0000369	Low-set ears
OMIM:304120	FLNA	2316	HP:0002007	Frontal bossing
OMIM:304120	FLNA	2316	HP:0008897	Postnatal growth retardation
OMIM:304120	FLNA	2316	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:304120	FLNA	2316	HP:0003826	Stillbirth
OMIM:304120	FLNA	2316	HP:0005280	Depressed nasal bridge
OMIM:304120	FLNA	2316	HP:0006381	Rudimentary fibula
OMIM:304120	FLNA	2316	HP:0000316	Hypertelorism
OMIM:304120	FLNA	2316	HP:0010743	Short metatarsal
OMIM:304120	FLNA	2316	HP:0000283	Broad face
OMIM:304120	FLNA	2316	HP:0010560	Undulate clavicles
OMIM:304120	FLNA	2316	HP:0003304	Spondylolysis
OMIM:304120	FLNA	2316	HP:0001782	Bulbous tips of toes
OMIM:304120	FLNA	2316	HP:0000272	Malar flattening
OMIM:304120	FLNA	2316	HP:0001539	Omphalocele
OMIM:304120	FLNA	2316	HP:0010557	Overlapping fingers
OMIM:304120	FLNA	2316	HP:0000160	Narrow mouth
OMIM:304120	FLNA	2316	HP:0000946	Hypoplastic ilia
OMIM:304120	FLNA	2316	HP:0008087	Nonossified fifth metatarsal
OMIM:304120	FLNA	2316	HP:0010559	Vertical clivus
OMIM:304120	FLNA	2316	HP:0009778	Short thumb
OMIM:304120	FLNA	2316	HP:0000260	Wide anterior fontanel
OMIM:304120	FLNA	2316	HP:0003031	Ulnar bowing
OMIM:304120	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:304120	FLNA	2316	HP:0002982	Tibial bowing
OMIM:304120	FLNA	2316	HP:0010055	Broad hallux
OMIM:304120	FLNA	2316	HP:0004322	Short stature
OMIM:304120	FLNA	2316	HP:0001838	Rocker bottom foot
OMIM:304120	FLNA	2316	HP:0006160	Irregular metacarpals
OMIM:304120	FLNA	2316	HP:0010109	Short hallux
OMIM:304120	FLNA	2316	HP:0002986	Radial bowing
OMIM:304120	FLNA	2316	HP:0011800	Midface retrusion
OMIM:304120	FLNA	2316	HP:0000773	Short ribs
OMIM:304120	FLNA	2316	HP:0001162	Postaxial hand polydactyly
OMIM:304120	FLNA	2316	HP:0002878	Respiratory failure
OMIM:304120	FLNA	2316	HP:0001374	Congenital hip dislocation
OMIM:304120	FLNA	2316	HP:0009467	Radial deviation of the 2nd finger
OMIM:304120	FLNA	2316	HP:0000358	Posteriorly rotated ears
OMIM:304120	FLNA	2316	HP:0002645	Wormian bones
OMIM:304120	FLNA	2316	HP:0001770	Toe syndactyly
OMIM:304120	FLNA	2316	HP:0000175	Cleft palate
OMIM:304120	FLNA	2316	HP:0011220	Prominent forehead
OMIM:304120	FLNA	2316	HP:0000774	Narrow chest
OMIM:304120	FLNA	2316	HP:0000238	Hydrocephalus
OMIM:304120	FLNA	2316	HP:0001249	Intellectual disability
OMIM:613912	CFD	1675	HP:0003828	Variable expressivity
OMIM:613912	CFD	1675	HP:0004431	Complement deficiency
OMIM:613912	CFD	1675	HP:0000007	Autosomal recessive inheritance
OMIM:613912	CFD	1675	HP:0002718	Recurrent bacterial infections
OMIM:182600	ATL1	51062	HP:0001270	Motor delay
OMIM:182600	ATL1	51062	HP:0001347	Hyperreflexia
OMIM:182600	ATL1	51062	HP:0010550	Paraplegia
OMIM:182600	ATL1	51062	HP:0002650	Scoliosis
OMIM:182600	ATL1	51062	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:182600	ATL1	51062	HP:0003587	Insidious onset
OMIM:182600	ATL1	51062	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:182600	ATL1	51062	HP:0001425	Heterogeneous
OMIM:182600	ATL1	51062	HP:0003829	Incomplete penetrance
OMIM:182600	ATL1	51062	HP:0007340	Lower limb muscle weakness
OMIM:182600	ATL1	51062	HP:0008944	Distal lower limb amyotrophy
OMIM:182600	ATL1	51062	HP:0002064	Spastic gait
OMIM:182600	ATL1	51062	HP:0003828	Variable expressivity
OMIM:182600	ATL1	51062	HP:0000020	Urinary incontinence
OMIM:182600	ATL1	51062	HP:0000012	Urinary urgency
OMIM:182600	ATL1	51062	HP:0001258	Spastic paraplegia
OMIM:182600	ATL1	51062	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:182600	ATL1	51062	HP:0001761	Pes cavus
OMIM:182600	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:182600	ATL1	51062	HP:0003487	Babinski sign
ORPHA:819	RAI1	10743	HP:0001265	Hyporeflexia
ORPHA:819	RAI1	10743	HP:0002167	Neurological speech impairment
ORPHA:819	RAI1	10743	HP:0000316	Hypertelorism
ORPHA:819	RAI1	10743	HP:0100729	Large face
ORPHA:819	RAI1	10743	HP:0008872	Feeding difficulties in infancy
ORPHA:819	RAI1	10743	HP:0001558	Decreased fetal movement
ORPHA:819	RAI1	10743	HP:0002119	Ventriculomegaly
ORPHA:819	RAI1	10743	HP:0001531	Failure to thrive in infancy
ORPHA:819	RAI1	10743	HP:0005607	Abnormality of the tracheobronchial system
ORPHA:819	RAI1	10743	HP:0000303	Mandibular prognathia
ORPHA:819	RAI1	10743	HP:0000733	Stereotypy
ORPHA:819	RAI1	10743	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:819	RAI1	10743	HP:0002020	Gastroesophageal reflux
ORPHA:819	RAI1	10743	HP:0000739	Anxiety
ORPHA:819	RAI1	10743	HP:0001770	Toe syndactyly
ORPHA:819	RAI1	10743	HP:0003196	Short nose
ORPHA:819	RAI1	10743	HP:0000405	Conductive hearing impairment
ORPHA:819	RAI1	10743	HP:0000664	Synophrys
ORPHA:819	RAI1	10743	HP:0000486	Strabismus
ORPHA:819	RAI1	10743	HP:0001156	Brachydactyly
ORPHA:819	RAI1	10743	HP:0004322	Short stature
ORPHA:819	RAI1	10743	HP:0011800	Midface retrusion
ORPHA:819	RAI1	10743	HP:0000750	Delayed speech and language development
ORPHA:819	RAI1	10743	HP:0002019	Constipation
ORPHA:819	RAI1	10743	HP:0002353	EEG abnormality
ORPHA:819	RAI1	10743	HP:0002007	Frontal bossing
ORPHA:819	RAI1	10743	HP:0000679	Taurodontia
ORPHA:819	RAI1	10743	HP:0000431	Wide nasal bridge
ORPHA:819	RAI1	10743	HP:0004209	Clinodactyly of the 5th finger
ORPHA:819	RAI1	10743	HP:0000490	Deeply set eye
ORPHA:819	RAI1	10743	HP:0000347	Micrognathia
ORPHA:819	RAI1	10743	HP:0001252	Muscular hypotonia
ORPHA:819	RAI1	10743	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:819	RAI1	10743	HP:0007328	Impaired pain sensation
ORPHA:819	RAI1	10743	HP:0100716	Self-injurious behavior
ORPHA:819	RAI1	10743	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:819	RAI1	10743	HP:0000545	Myopia
ORPHA:819	RAI1	10743	HP:0007016	Corticospinal tract hypoplasia
ORPHA:819	RAI1	10743	HP:0000337	Broad forehead
ORPHA:819	RAI1	10743	HP:0002360	Sleep disturbance
ORPHA:819	RAI1	10743	HP:0000248	Brachycephaly
ORPHA:819	RAI1	10743	HP:0001249	Intellectual disability
ORPHA:819	RAI1	10743	HP:0010780	Hyperacusis
ORPHA:819	RAI1	10743	HP:0010804	Tented upper lip vermilion
ORPHA:819	RAI1	10743	HP:0001288	Gait disturbance
ORPHA:819	RAI1	10743	HP:0001763	Pes planus
ORPHA:819	RAI1	10743	HP:0003124	Hypercholesterolemia
ORPHA:819	RAI1	10743	HP:0000482	Microcornea
ORPHA:819	RAI1	10743	HP:0002155	Hypertriglyceridemia
ORPHA:819	RAI1	10743	HP:0005280	Depressed nasal bridge
ORPHA:819	RAI1	10743	HP:0000582	Upslanted palpebral fissure
ORPHA:819	RAI1	10743	HP:0000322	Short philtrum
ORPHA:819	RAI1	10743	HP:0000194	Open mouth
ORPHA:819	RAI1	10743	HP:0001609	Hoarse voice
ORPHA:819	RAI1	10743	HP:0002650	Scoliosis
ORPHA:819	RAI1	10743	HP:0000389	Chronic otitis media
ORPHA:819	RAI1	10743	HP:0001513	Obesity
ORPHA:819	RAI1	10743	HP:0001263	Global developmental delay
ORPHA:819	RAI1	10743	HP:0000463	Anteverted nares
ORPHA:819	RAI1	10743	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:819	RAI1	10743	HP:0000680	Delayed eruption of primary teeth
ORPHA:819	IQSEC2	23096	HP:0001265	Hyporeflexia
ORPHA:819	IQSEC2	23096	HP:0002167	Neurological speech impairment
ORPHA:819	IQSEC2	23096	HP:0000316	Hypertelorism
ORPHA:819	IQSEC2	23096	HP:0100729	Large face
ORPHA:819	IQSEC2	23096	HP:0008872	Feeding difficulties in infancy
ORPHA:819	IQSEC2	23096	HP:0001558	Decreased fetal movement
ORPHA:819	IQSEC2	23096	HP:0002119	Ventriculomegaly
ORPHA:819	IQSEC2	23096	HP:0001531	Failure to thrive in infancy
ORPHA:819	IQSEC2	23096	HP:0005607	Abnormality of the tracheobronchial system
ORPHA:819	IQSEC2	23096	HP:0000303	Mandibular prognathia
ORPHA:819	IQSEC2	23096	HP:0000733	Stereotypy
ORPHA:819	IQSEC2	23096	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:819	IQSEC2	23096	HP:0002020	Gastroesophageal reflux
ORPHA:819	IQSEC2	23096	HP:0000739	Anxiety
ORPHA:819	IQSEC2	23096	HP:0001770	Toe syndactyly
ORPHA:819	IQSEC2	23096	HP:0003196	Short nose
ORPHA:819	IQSEC2	23096	HP:0000405	Conductive hearing impairment
ORPHA:819	IQSEC2	23096	HP:0000664	Synophrys
ORPHA:819	IQSEC2	23096	HP:0000486	Strabismus
ORPHA:819	IQSEC2	23096	HP:0001156	Brachydactyly
ORPHA:819	IQSEC2	23096	HP:0004322	Short stature
ORPHA:819	IQSEC2	23096	HP:0011800	Midface retrusion
ORPHA:819	IQSEC2	23096	HP:0000750	Delayed speech and language development
ORPHA:819	IQSEC2	23096	HP:0002019	Constipation
ORPHA:819	IQSEC2	23096	HP:0002353	EEG abnormality
ORPHA:819	IQSEC2	23096	HP:0002007	Frontal bossing
ORPHA:819	IQSEC2	23096	HP:0000679	Taurodontia
ORPHA:819	IQSEC2	23096	HP:0000431	Wide nasal bridge
ORPHA:819	IQSEC2	23096	HP:0004209	Clinodactyly of the 5th finger
ORPHA:819	IQSEC2	23096	HP:0000490	Deeply set eye
ORPHA:819	IQSEC2	23096	HP:0000347	Micrognathia
ORPHA:819	IQSEC2	23096	HP:0001252	Muscular hypotonia
ORPHA:819	IQSEC2	23096	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:819	IQSEC2	23096	HP:0007328	Impaired pain sensation
ORPHA:819	IQSEC2	23096	HP:0100716	Self-injurious behavior
ORPHA:819	IQSEC2	23096	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:819	IQSEC2	23096	HP:0000545	Myopia
ORPHA:819	IQSEC2	23096	HP:0007016	Corticospinal tract hypoplasia
ORPHA:819	IQSEC2	23096	HP:0000337	Broad forehead
ORPHA:819	IQSEC2	23096	HP:0002360	Sleep disturbance
ORPHA:819	IQSEC2	23096	HP:0000248	Brachycephaly
ORPHA:819	IQSEC2	23096	HP:0001249	Intellectual disability
ORPHA:819	IQSEC2	23096	HP:0010780	Hyperacusis
ORPHA:819	IQSEC2	23096	HP:0010804	Tented upper lip vermilion
ORPHA:819	IQSEC2	23096	HP:0001288	Gait disturbance
ORPHA:819	IQSEC2	23096	HP:0001763	Pes planus
ORPHA:819	IQSEC2	23096	HP:0003124	Hypercholesterolemia
ORPHA:819	IQSEC2	23096	HP:0000482	Microcornea
ORPHA:819	IQSEC2	23096	HP:0002155	Hypertriglyceridemia
ORPHA:819	IQSEC2	23096	HP:0005280	Depressed nasal bridge
ORPHA:819	IQSEC2	23096	HP:0000582	Upslanted palpebral fissure
ORPHA:819	IQSEC2	23096	HP:0000322	Short philtrum
ORPHA:819	IQSEC2	23096	HP:0000194	Open mouth
ORPHA:819	IQSEC2	23096	HP:0001609	Hoarse voice
ORPHA:819	IQSEC2	23096	HP:0002650	Scoliosis
ORPHA:819	IQSEC2	23096	HP:0000389	Chronic otitis media
ORPHA:819	IQSEC2	23096	HP:0001513	Obesity
ORPHA:819	IQSEC2	23096	HP:0001263	Global developmental delay
ORPHA:819	IQSEC2	23096	HP:0000463	Anteverted nares
ORPHA:819	IQSEC2	23096	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:819	IQSEC2	23096	HP:0000680	Delayed eruption of primary teeth
ORPHA:819	FLII	2314	HP:0001265	Hyporeflexia
ORPHA:819	FLII	2314	HP:0002167	Neurological speech impairment
ORPHA:819	FLII	2314	HP:0000316	Hypertelorism
ORPHA:819	FLII	2314	HP:0100729	Large face
ORPHA:819	FLII	2314	HP:0008872	Feeding difficulties in infancy
ORPHA:819	FLII	2314	HP:0001558	Decreased fetal movement
ORPHA:819	FLII	2314	HP:0002119	Ventriculomegaly
ORPHA:819	FLII	2314	HP:0001531	Failure to thrive in infancy
ORPHA:819	FLII	2314	HP:0005607	Abnormality of the tracheobronchial system
ORPHA:819	FLII	2314	HP:0000303	Mandibular prognathia
ORPHA:819	FLII	2314	HP:0000733	Stereotypy
ORPHA:819	FLII	2314	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:819	FLII	2314	HP:0002020	Gastroesophageal reflux
ORPHA:819	FLII	2314	HP:0000739	Anxiety
ORPHA:819	FLII	2314	HP:0001770	Toe syndactyly
ORPHA:819	FLII	2314	HP:0003196	Short nose
ORPHA:819	FLII	2314	HP:0000405	Conductive hearing impairment
ORPHA:819	FLII	2314	HP:0000664	Synophrys
ORPHA:819	FLII	2314	HP:0000486	Strabismus
ORPHA:819	FLII	2314	HP:0001156	Brachydactyly
ORPHA:819	FLII	2314	HP:0004322	Short stature
ORPHA:819	FLII	2314	HP:0011800	Midface retrusion
ORPHA:819	FLII	2314	HP:0000750	Delayed speech and language development
ORPHA:819	FLII	2314	HP:0002019	Constipation
ORPHA:819	FLII	2314	HP:0002353	EEG abnormality
ORPHA:819	FLII	2314	HP:0002007	Frontal bossing
ORPHA:819	FLII	2314	HP:0000679	Taurodontia
ORPHA:819	FLII	2314	HP:0000431	Wide nasal bridge
ORPHA:819	FLII	2314	HP:0004209	Clinodactyly of the 5th finger
ORPHA:819	FLII	2314	HP:0000490	Deeply set eye
ORPHA:819	FLII	2314	HP:0000347	Micrognathia
ORPHA:819	FLII	2314	HP:0001252	Muscular hypotonia
ORPHA:819	FLII	2314	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:819	FLII	2314	HP:0007328	Impaired pain sensation
ORPHA:819	FLII	2314	HP:0100716	Self-injurious behavior
ORPHA:819	FLII	2314	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:819	FLII	2314	HP:0000545	Myopia
ORPHA:819	FLII	2314	HP:0007016	Corticospinal tract hypoplasia
ORPHA:819	FLII	2314	HP:0000337	Broad forehead
ORPHA:819	FLII	2314	HP:0002360	Sleep disturbance
ORPHA:819	FLII	2314	HP:0000248	Brachycephaly
ORPHA:819	FLII	2314	HP:0001249	Intellectual disability
ORPHA:819	FLII	2314	HP:0010780	Hyperacusis
ORPHA:819	FLII	2314	HP:0010804	Tented upper lip vermilion
ORPHA:819	FLII	2314	HP:0001288	Gait disturbance
ORPHA:819	FLII	2314	HP:0001763	Pes planus
ORPHA:819	FLII	2314	HP:0003124	Hypercholesterolemia
ORPHA:819	FLII	2314	HP:0000482	Microcornea
ORPHA:819	FLII	2314	HP:0002155	Hypertriglyceridemia
ORPHA:819	FLII	2314	HP:0005280	Depressed nasal bridge
ORPHA:819	FLII	2314	HP:0000582	Upslanted palpebral fissure
ORPHA:819	FLII	2314	HP:0000322	Short philtrum
ORPHA:819	FLII	2314	HP:0000194	Open mouth
ORPHA:819	FLII	2314	HP:0001609	Hoarse voice
ORPHA:819	FLII	2314	HP:0002650	Scoliosis
ORPHA:819	FLII	2314	HP:0000389	Chronic otitis media
ORPHA:819	FLII	2314	HP:0001513	Obesity
ORPHA:819	FLII	2314	HP:0001263	Global developmental delay
ORPHA:819	FLII	2314	HP:0000463	Anteverted nares
ORPHA:819	FLII	2314	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:819	FLII	2314	HP:0000680	Delayed eruption of primary teeth
ORPHA:819	DEAF1	10522	HP:0001265	Hyporeflexia
ORPHA:819	DEAF1	10522	HP:0002167	Neurological speech impairment
ORPHA:819	DEAF1	10522	HP:0000316	Hypertelorism
ORPHA:819	DEAF1	10522	HP:0100729	Large face
ORPHA:819	DEAF1	10522	HP:0008872	Feeding difficulties in infancy
ORPHA:819	DEAF1	10522	HP:0001558	Decreased fetal movement
ORPHA:819	DEAF1	10522	HP:0002119	Ventriculomegaly
ORPHA:819	DEAF1	10522	HP:0001531	Failure to thrive in infancy
ORPHA:819	DEAF1	10522	HP:0005607	Abnormality of the tracheobronchial system
ORPHA:819	DEAF1	10522	HP:0000303	Mandibular prognathia
ORPHA:819	DEAF1	10522	HP:0000733	Stereotypy
ORPHA:819	DEAF1	10522	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:819	DEAF1	10522	HP:0002020	Gastroesophageal reflux
ORPHA:819	DEAF1	10522	HP:0000739	Anxiety
ORPHA:819	DEAF1	10522	HP:0001770	Toe syndactyly
ORPHA:819	DEAF1	10522	HP:0003196	Short nose
ORPHA:819	DEAF1	10522	HP:0000405	Conductive hearing impairment
ORPHA:819	DEAF1	10522	HP:0000664	Synophrys
ORPHA:819	DEAF1	10522	HP:0000486	Strabismus
ORPHA:819	DEAF1	10522	HP:0001156	Brachydactyly
ORPHA:819	DEAF1	10522	HP:0004322	Short stature
ORPHA:819	DEAF1	10522	HP:0011800	Midface retrusion
ORPHA:819	DEAF1	10522	HP:0000750	Delayed speech and language development
ORPHA:819	DEAF1	10522	HP:0002019	Constipation
ORPHA:819	DEAF1	10522	HP:0002353	EEG abnormality
ORPHA:819	DEAF1	10522	HP:0002007	Frontal bossing
ORPHA:819	DEAF1	10522	HP:0000679	Taurodontia
ORPHA:819	DEAF1	10522	HP:0000431	Wide nasal bridge
ORPHA:819	DEAF1	10522	HP:0004209	Clinodactyly of the 5th finger
ORPHA:819	DEAF1	10522	HP:0000490	Deeply set eye
ORPHA:819	DEAF1	10522	HP:0000347	Micrognathia
ORPHA:819	DEAF1	10522	HP:0001252	Muscular hypotonia
ORPHA:819	DEAF1	10522	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:819	DEAF1	10522	HP:0007328	Impaired pain sensation
ORPHA:819	DEAF1	10522	HP:0100716	Self-injurious behavior
ORPHA:819	DEAF1	10522	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:819	DEAF1	10522	HP:0000545	Myopia
ORPHA:819	DEAF1	10522	HP:0007016	Corticospinal tract hypoplasia
ORPHA:819	DEAF1	10522	HP:0000337	Broad forehead
ORPHA:819	DEAF1	10522	HP:0002360	Sleep disturbance
ORPHA:819	DEAF1	10522	HP:0000248	Brachycephaly
ORPHA:819	DEAF1	10522	HP:0001249	Intellectual disability
ORPHA:819	DEAF1	10522	HP:0010780	Hyperacusis
ORPHA:819	DEAF1	10522	HP:0010804	Tented upper lip vermilion
ORPHA:819	DEAF1	10522	HP:0001288	Gait disturbance
ORPHA:819	DEAF1	10522	HP:0001763	Pes planus
ORPHA:819	DEAF1	10522	HP:0003124	Hypercholesterolemia
ORPHA:819	DEAF1	10522	HP:0000482	Microcornea
ORPHA:819	DEAF1	10522	HP:0002155	Hypertriglyceridemia
ORPHA:819	DEAF1	10522	HP:0005280	Depressed nasal bridge
ORPHA:819	DEAF1	10522	HP:0000582	Upslanted palpebral fissure
ORPHA:819	DEAF1	10522	HP:0000322	Short philtrum
ORPHA:819	DEAF1	10522	HP:0000194	Open mouth
ORPHA:819	DEAF1	10522	HP:0001609	Hoarse voice
ORPHA:819	DEAF1	10522	HP:0002650	Scoliosis
ORPHA:819	DEAF1	10522	HP:0000389	Chronic otitis media
ORPHA:819	DEAF1	10522	HP:0001513	Obesity
ORPHA:819	DEAF1	10522	HP:0001263	Global developmental delay
ORPHA:819	DEAF1	10522	HP:0000463	Anteverted nares
ORPHA:819	DEAF1	10522	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:819	DEAF1	10522	HP:0000680	Delayed eruption of primary teeth
OMIM:201000	RAB23	51715	HP:0001642	Pulmonic stenosis
OMIM:201000	RAB23	51715	HP:0004442	Sagittal craniosynostosis
OMIM:201000	RAB23	51715	HP:0002650	Scoliosis
OMIM:201000	RAB23	51715	HP:0001629	Ventricular septal defect
OMIM:201000	RAB23	51715	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:201000	RAB23	51715	HP:0000960	Sacral dimple
OMIM:201000	RAB23	51715	HP:0007759	Opacification of the corneal stroma
OMIM:201000	RAB23	51715	HP:0004467	Preauricular pit
OMIM:201000	RAB23	51715	HP:0001513	Obesity
OMIM:201000	RAB23	51715	HP:0002059	Cerebral atrophy
OMIM:201000	RAB23	51715	HP:0000506	Telecanthus
OMIM:201000	RAB23	51715	HP:0001631	Atrial septal defect
OMIM:201000	RAB23	51715	HP:0001841	Preaxial foot polydactyly
OMIM:201000	RAB23	51715	HP:0003241	External genital hypoplasia
OMIM:201000	RAB23	51715	HP:0002970	Genu varum
OMIM:201000	RAB23	51715	HP:0004443	Lambdoidal craniosynostosis
OMIM:201000	RAB23	51715	HP:0002673	Coxa valga
OMIM:201000	RAB23	51715	HP:0000470	Short neck
OMIM:201000	RAB23	51715	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand
OMIM:201000	RAB23	51715	HP:0009608	Complete duplication of proximal phalanx of the thumb
OMIM:201000	RAB23	51715	HP:0000407	Sensorineural hearing impairment
OMIM:201000	RAB23	51715	HP:0001643	Patent ductus arteriosus
OMIM:201000	RAB23	51715	HP:0009473	Joint contracture of the hand
OMIM:201000	RAB23	51715	HP:0000218	High palate
OMIM:201000	RAB23	51715	HP:0000272	Malar flattening
OMIM:201000	RAB23	51715	HP:0006349	Agenesis of permanent teeth
OMIM:201000	RAB23	51715	HP:0001162	Postaxial hand polydactyly
OMIM:201000	RAB23	51715	HP:0005280	Depressed nasal bridge
OMIM:201000	RAB23	51715	HP:0000072	Hydroureter
OMIM:201000	RAB23	51715	HP:0000826	Precocious puberty
OMIM:201000	RAB23	51715	HP:0000028	Cryptorchidism
OMIM:201000	RAB23	51715	HP:0001156	Brachydactyly
OMIM:201000	RAB23	51715	HP:0001539	Omphalocele
OMIM:201000	RAB23	51715	HP:0001669	Transposition of the great arteries
OMIM:201000	RAB23	51715	HP:0001249	Intellectual disability
OMIM:201000	RAB23	51715	HP:0006335	Persistence of primary teeth
OMIM:201000	RAB23	51715	HP:0000648	Optic atrophy
OMIM:201000	RAB23	51715	HP:0004209	Clinodactyly of the 5th finger
OMIM:201000	RAB23	51715	HP:0002700	Large foramen magnum
OMIM:201000	RAB23	51715	HP:0004322	Short stature
OMIM:201000	RAB23	51715	HP:0000482	Microcornea
OMIM:201000	RAB23	51715	HP:0011800	Midface retrusion
OMIM:201000	RAB23	51715	HP:0004440	Coronal craniosynostosis
OMIM:201000	RAB23	51715	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:201000	RAB23	51715	HP:0009891	Underdeveloped supraorbital ridges
OMIM:201000	RAB23	51715	HP:0001748	Polysplenia
OMIM:201000	RAB23	51715	HP:0000286	Epicanthus
OMIM:201000	RAB23	51715	HP:0001840	Metatarsus adductus
OMIM:201000	RAB23	51715	HP:0000126	Hydronephrosis
OMIM:201000	RAB23	51715	HP:0000405	Conductive hearing impairment
OMIM:201000	RAB23	51715	HP:0000327	Hypoplasia of the maxilla
OMIM:201000	RAB23	51715	HP:0012385	Camptodactyly
OMIM:201000	RAB23	51715	HP:0010093	Duplication of the proximal phalanx of the hallux
OMIM:201000	RAB23	51715	HP:0000347	Micrognathia
OMIM:201000	RAB23	51715	HP:0001537	Umbilical hernia
OMIM:201000	RAB23	51715	HP:0006397	Lateral displacement of patellae
OMIM:201000	RAB23	51715	HP:0001636	Tetralogy of Fallot
OMIM:201000	RAB23	51715	HP:0000369	Low-set ears
OMIM:201000	RAB23	51715	HP:0000377	Abnormality of the pinna
OMIM:201000	RAB23	51715	HP:0001770	Toe syndactyly
OMIM:201000	RAB23	51715	HP:0000248	Brachycephaly
OMIM:201000	RAB23	51715	HP:0003298	Spina bifida occulta
OMIM:201000	RAB23	51715	HP:0002869	Flared iliac wings
OMIM:201000	RAB23	51715	HP:0003182	Shallow acetabular fossae
OMIM:201000	RAB23	51715	HP:0002857	Genu valgum
OMIM:201000	RAB23	51715	HP:0000007	Autosomal recessive inheritance
OMIM:201000	RAB23	51715	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:159	SLC25A20	788	HP:0040290	Abnormality of skeletal muscles
ORPHA:159	SLC25A20	788	HP:0008331	Elevated creatine kinase after exercise
ORPHA:159	SLC25A20	788	HP:0003162	Fasting hypoglycemia
ORPHA:159	SLC25A20	788	HP:0000737	Irritability
ORPHA:159	SLC25A20	788	HP:0001298	Encephalopathy
ORPHA:159	SLC25A20	788	HP:0001263	Global developmental delay
ORPHA:159	SLC25A20	788	HP:0001638	Cardiomyopathy
ORPHA:159	SLC25A20	788	HP:0045045	Elevated plasma acylcarnitine levels
ORPHA:159	SLC25A20	788	HP:0003201	Rhabdomyolysis
ORPHA:159	SLC25A20	788	HP:0003215	Dicarboxylic aciduria
ORPHA:159	SLC25A20	788	HP:0002910	Elevated hepatic transaminases
ORPHA:159	SLC25A20	788	HP:0002093	Respiratory insufficiency
ORPHA:159	SLC25A20	788	HP:0001987	Hyperammonemia
ORPHA:159	SLC25A20	788	HP:0002240	Hepatomegaly
ORPHA:159	SLC25A20	788	HP:0003234	Decreased plasma carnitine
ORPHA:159	SLC25A20	788	HP:0001254	Lethargy
ORPHA:159	SLC25A20	788	HP:0004756	Ventricular tachycardia
ORPHA:159	SLC25A20	788	HP:0001324	Muscle weakness
ORPHA:159	SLC25A20	788	HP:0002615	Hypotension
ORPHA:159	SLC25A20	788	HP:0001985	Hypoketotic hypoglycemia
OMIM:615501	GPHN	10243	HP:0002421	Poor head control
OMIM:615501	GPHN	10243	HP:0008936	Muscular hypotonia of the trunk
OMIM:615501	GPHN	10243	HP:0002069	Generalized tonic-clonic seizures
OMIM:615501	GPHN	10243	HP:0011968	Feeding difficulties
OMIM:615501	GPHN	10243	HP:0001276	Hypertonia
OMIM:615501	GPHN	10243	HP:0003570	Molybdenum cofactor deficiency
OMIM:615501	GPHN	10243	HP:0005268	Spontaneous abortion
OMIM:615501	GPHN	10243	HP:0001347	Hyperreflexia
OMIM:615501	GPHN	10243	HP:0002126	Polymicrogyria
OMIM:615501	GPHN	10243	HP:0000817	Poor eye contact
OMIM:612964	NR5A1	2516	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:612964	NR5A1	2516	HP:0001470	Sex-limited autosomal dominant
OMIM:612964	NR5A1	2516	HP:0008209	Premature ovarian insufficiency
OMIM:612964	NR5A1	2516	HP:0000869	Secondary amenorrhea
OMIM:612964	NR5A1	2516	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:616780	TUBB8	347688	HP:0000006	Autosomal dominant inheritance
OMIM:616780	TUBB8	347688	HP:0000007	Autosomal recessive inheritance
OMIM:616780	TUBB8	347688	HP:0008222	Female infertility
ORPHA:904	TBL2	26608	HP:0001531	Failure to thrive in infancy
ORPHA:904	TBL2	26608	HP:0002829	Arthralgia
ORPHA:904	TBL2	26608	HP:0002857	Genu valgum
ORPHA:904	TBL2	26608	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	TBL2	26608	HP:0000093	Proteinuria
ORPHA:904	TBL2	26608	HP:0002150	Hypercalciuria
ORPHA:904	TBL2	26608	HP:0001582	Redundant skin
ORPHA:904	TBL2	26608	HP:0000083	Renal insufficiency
ORPHA:904	TBL2	26608	HP:0010526	Dysgraphia
ORPHA:904	TBL2	26608	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	TBL2	26608	HP:0000400	Macrotia
ORPHA:904	TBL2	26608	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	TBL2	26608	HP:0000347	Micrognathia
ORPHA:904	TBL2	26608	HP:0001609	Hoarse voice
ORPHA:904	TBL2	26608	HP:0003196	Short nose
ORPHA:904	TBL2	26608	HP:0000717	Autism
ORPHA:904	TBL2	26608	HP:0002253	Colonic diverticula
ORPHA:904	TBL2	26608	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	TBL2	26608	HP:0002637	Cerebral ischemia
ORPHA:904	TBL2	26608	HP:0001249	Intellectual disability
ORPHA:904	TBL2	26608	HP:0001634	Mitral valve prolapse
ORPHA:904	TBL2	26608	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	TBL2	26608	HP:0000389	Chronic otitis media
ORPHA:904	TBL2	26608	HP:0000411	Protruding ear
ORPHA:904	TBL2	26608	HP:0001642	Pulmonic stenosis
ORPHA:904	TBL2	26608	HP:0100025	Overfriendliness
ORPHA:904	TBL2	26608	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	TBL2	26608	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	TBL2	26608	HP:0000125	Pelvic kidney
ORPHA:904	TBL2	26608	HP:0000232	Everted lower lip vermilion
ORPHA:904	TBL2	26608	HP:0000431	Wide nasal bridge
ORPHA:904	TBL2	26608	HP:0000689	Dental malocclusion
ORPHA:904	TBL2	26608	HP:0001257	Spasticity
ORPHA:904	TBL2	26608	HP:0004428	Elfin facies
ORPHA:904	TBL2	26608	HP:0000486	Strabismus
ORPHA:904	TBL2	26608	HP:0000280	Coarse facial features
ORPHA:904	TBL2	26608	HP:0000337	Broad forehead
ORPHA:904	TBL2	26608	HP:0000960	Sacral dimple
ORPHA:904	TBL2	26608	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	TBL2	26608	HP:0001297	Stroke
ORPHA:904	TBL2	26608	HP:0000348	High forehead
ORPHA:904	TBL2	26608	HP:0100817	Renovascular hypertension
ORPHA:904	TBL2	26608	HP:0008499	High-grade hypermetropia
ORPHA:904	TBL2	26608	HP:0001252	Muscular hypotonia
ORPHA:904	TBL2	26608	HP:0003307	Hyperlordosis
ORPHA:904	TBL2	26608	HP:0100785	Insomnia
ORPHA:904	TBL2	26608	HP:0000682	Abnormality of dental enamel
ORPHA:904	TBL2	26608	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	TBL2	26608	HP:0001653	Mitral regurgitation
ORPHA:904	TBL2	26608	HP:0000252	Microcephaly
ORPHA:904	TBL2	26608	HP:0000275	Narrow face
ORPHA:904	TBL2	26608	HP:0000307	Pointed chin
ORPHA:904	TBL2	26608	HP:0000343	Long philtrum
ORPHA:904	TBL2	26608	HP:0000407	Sensorineural hearing impairment
ORPHA:904	TBL2	26608	HP:0001822	Hallux valgus
ORPHA:904	TBL2	26608	HP:0001763	Pes planus
ORPHA:904	TBL2	26608	HP:0000158	Macroglossia
ORPHA:904	TBL2	26608	HP:0002183	Phonophobia
ORPHA:904	TBL2	26608	HP:0002808	Kyphosis
ORPHA:904	TBL2	26608	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	TBL2	26608	HP:0000739	Anxiety
ORPHA:904	TBL2	26608	HP:0002141	Gait imbalance
ORPHA:904	TBL2	26608	HP:0000023	Inguinal hernia
ORPHA:904	TBL2	26608	HP:0000716	Depressivity
ORPHA:904	TBL2	26608	HP:0001337	Tremor
ORPHA:904	TBL2	26608	HP:0001513	Obesity
ORPHA:904	TBL2	26608	HP:0001347	Hyperreflexia
ORPHA:904	TBL2	26608	HP:0002027	Abdominal pain
ORPHA:904	TBL2	26608	HP:0200021	Down-sloping shoulders
ORPHA:904	TBL2	26608	HP:0000286	Epicanthus
ORPHA:904	TBL2	26608	HP:0001800	Hypoplastic toenails
ORPHA:904	TBL2	26608	HP:0002017	Nausea and vomiting
ORPHA:904	TBL2	26608	HP:0000179	Thick lower lip vermilion
ORPHA:904	TBL2	26608	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	TBL2	26608	HP:0003072	Hypercalcemia
ORPHA:904	TBL2	26608	HP:0000464	Abnormality of the neck
ORPHA:904	TBL2	26608	HP:0001231	Abnormality of the fingernails
ORPHA:904	TBL2	26608	HP:0010780	Hyperacusis
ORPHA:904	TBL2	26608	HP:0001310	Dysmetria
ORPHA:904	TBL2	26608	HP:0000668	Hypodontia
ORPHA:904	TBL2	26608	HP:0002019	Constipation
ORPHA:904	TBL2	26608	HP:0001387	Joint stiffness
ORPHA:904	TBL2	26608	HP:0000581	Blepharophimosis
ORPHA:904	TBL2	26608	HP:0000154	Wide mouth
ORPHA:904	TBL2	26608	HP:0000691	Microdontia
ORPHA:904	TBL2	26608	HP:0100539	Periorbital edema
ORPHA:904	TBL2	26608	HP:0000505	Visual impairment
ORPHA:904	TBL2	26608	HP:0004322	Short stature
ORPHA:904	TBL2	26608	HP:0010807	Open bite
ORPHA:904	LIMK1	3984	HP:0001531	Failure to thrive in infancy
ORPHA:904	LIMK1	3984	HP:0002829	Arthralgia
ORPHA:904	LIMK1	3984	HP:0002857	Genu valgum
ORPHA:904	LIMK1	3984	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	LIMK1	3984	HP:0000093	Proteinuria
ORPHA:904	LIMK1	3984	HP:0002150	Hypercalciuria
ORPHA:904	LIMK1	3984	HP:0001582	Redundant skin
ORPHA:904	LIMK1	3984	HP:0000083	Renal insufficiency
ORPHA:904	LIMK1	3984	HP:0010526	Dysgraphia
ORPHA:904	LIMK1	3984	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	LIMK1	3984	HP:0000400	Macrotia
ORPHA:904	LIMK1	3984	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	LIMK1	3984	HP:0000347	Micrognathia
ORPHA:904	LIMK1	3984	HP:0001609	Hoarse voice
ORPHA:904	LIMK1	3984	HP:0003196	Short nose
ORPHA:904	LIMK1	3984	HP:0000717	Autism
ORPHA:904	LIMK1	3984	HP:0002253	Colonic diverticula
ORPHA:904	LIMK1	3984	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	LIMK1	3984	HP:0002637	Cerebral ischemia
ORPHA:904	LIMK1	3984	HP:0001249	Intellectual disability
ORPHA:904	LIMK1	3984	HP:0001634	Mitral valve prolapse
ORPHA:904	LIMK1	3984	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	LIMK1	3984	HP:0000389	Chronic otitis media
ORPHA:904	LIMK1	3984	HP:0000411	Protruding ear
ORPHA:904	LIMK1	3984	HP:0001642	Pulmonic stenosis
ORPHA:904	LIMK1	3984	HP:0100025	Overfriendliness
ORPHA:904	LIMK1	3984	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	LIMK1	3984	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	LIMK1	3984	HP:0000125	Pelvic kidney
ORPHA:904	LIMK1	3984	HP:0000232	Everted lower lip vermilion
ORPHA:904	LIMK1	3984	HP:0000431	Wide nasal bridge
ORPHA:904	LIMK1	3984	HP:0000689	Dental malocclusion
ORPHA:904	LIMK1	3984	HP:0001257	Spasticity
ORPHA:904	LIMK1	3984	HP:0004428	Elfin facies
ORPHA:904	LIMK1	3984	HP:0000486	Strabismus
ORPHA:904	LIMK1	3984	HP:0000280	Coarse facial features
ORPHA:904	LIMK1	3984	HP:0000337	Broad forehead
ORPHA:904	LIMK1	3984	HP:0000960	Sacral dimple
ORPHA:904	LIMK1	3984	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	LIMK1	3984	HP:0001297	Stroke
ORPHA:904	LIMK1	3984	HP:0000348	High forehead
ORPHA:904	LIMK1	3984	HP:0100817	Renovascular hypertension
ORPHA:904	LIMK1	3984	HP:0008499	High-grade hypermetropia
ORPHA:904	LIMK1	3984	HP:0001252	Muscular hypotonia
ORPHA:904	LIMK1	3984	HP:0003307	Hyperlordosis
ORPHA:904	LIMK1	3984	HP:0100785	Insomnia
ORPHA:904	LIMK1	3984	HP:0000682	Abnormality of dental enamel
ORPHA:904	LIMK1	3984	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	LIMK1	3984	HP:0001653	Mitral regurgitation
ORPHA:904	LIMK1	3984	HP:0000252	Microcephaly
ORPHA:904	LIMK1	3984	HP:0000275	Narrow face
ORPHA:904	LIMK1	3984	HP:0000307	Pointed chin
ORPHA:904	LIMK1	3984	HP:0000343	Long philtrum
ORPHA:904	LIMK1	3984	HP:0000407	Sensorineural hearing impairment
ORPHA:904	LIMK1	3984	HP:0001822	Hallux valgus
ORPHA:904	LIMK1	3984	HP:0001763	Pes planus
ORPHA:904	LIMK1	3984	HP:0000158	Macroglossia
ORPHA:904	LIMK1	3984	HP:0002183	Phonophobia
ORPHA:904	LIMK1	3984	HP:0002808	Kyphosis
ORPHA:904	LIMK1	3984	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	LIMK1	3984	HP:0000739	Anxiety
ORPHA:904	LIMK1	3984	HP:0002141	Gait imbalance
ORPHA:904	LIMK1	3984	HP:0000023	Inguinal hernia
ORPHA:904	LIMK1	3984	HP:0000716	Depressivity
ORPHA:904	LIMK1	3984	HP:0001337	Tremor
ORPHA:904	LIMK1	3984	HP:0001513	Obesity
ORPHA:904	LIMK1	3984	HP:0001347	Hyperreflexia
ORPHA:904	LIMK1	3984	HP:0002027	Abdominal pain
ORPHA:904	LIMK1	3984	HP:0200021	Down-sloping shoulders
ORPHA:904	LIMK1	3984	HP:0000286	Epicanthus
ORPHA:904	LIMK1	3984	HP:0001800	Hypoplastic toenails
ORPHA:904	LIMK1	3984	HP:0002017	Nausea and vomiting
ORPHA:904	LIMK1	3984	HP:0000179	Thick lower lip vermilion
ORPHA:904	LIMK1	3984	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	LIMK1	3984	HP:0003072	Hypercalcemia
ORPHA:904	LIMK1	3984	HP:0000464	Abnormality of the neck
ORPHA:904	LIMK1	3984	HP:0001231	Abnormality of the fingernails
ORPHA:904	LIMK1	3984	HP:0010780	Hyperacusis
ORPHA:904	LIMK1	3984	HP:0001310	Dysmetria
ORPHA:904	LIMK1	3984	HP:0000668	Hypodontia
ORPHA:904	LIMK1	3984	HP:0002019	Constipation
ORPHA:904	LIMK1	3984	HP:0001387	Joint stiffness
ORPHA:904	LIMK1	3984	HP:0000581	Blepharophimosis
ORPHA:904	LIMK1	3984	HP:0000154	Wide mouth
ORPHA:904	LIMK1	3984	HP:0000691	Microdontia
ORPHA:904	LIMK1	3984	HP:0100539	Periorbital edema
ORPHA:904	LIMK1	3984	HP:0000505	Visual impairment
ORPHA:904	LIMK1	3984	HP:0004322	Short stature
ORPHA:904	LIMK1	3984	HP:0010807	Open bite
ORPHA:904	GTF2IRD1	9569	HP:0001531	Failure to thrive in infancy
ORPHA:904	GTF2IRD1	9569	HP:0002829	Arthralgia
ORPHA:904	GTF2IRD1	9569	HP:0002857	Genu valgum
ORPHA:904	GTF2IRD1	9569	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	GTF2IRD1	9569	HP:0000093	Proteinuria
ORPHA:904	GTF2IRD1	9569	HP:0002150	Hypercalciuria
ORPHA:904	GTF2IRD1	9569	HP:0001582	Redundant skin
ORPHA:904	GTF2IRD1	9569	HP:0000083	Renal insufficiency
ORPHA:904	GTF2IRD1	9569	HP:0010526	Dysgraphia
ORPHA:904	GTF2IRD1	9569	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	GTF2IRD1	9569	HP:0000400	Macrotia
ORPHA:904	GTF2IRD1	9569	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	GTF2IRD1	9569	HP:0000347	Micrognathia
ORPHA:904	GTF2IRD1	9569	HP:0001609	Hoarse voice
ORPHA:904	GTF2IRD1	9569	HP:0003196	Short nose
ORPHA:904	GTF2IRD1	9569	HP:0000717	Autism
ORPHA:904	GTF2IRD1	9569	HP:0002253	Colonic diverticula
ORPHA:904	GTF2IRD1	9569	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	GTF2IRD1	9569	HP:0002637	Cerebral ischemia
ORPHA:904	GTF2IRD1	9569	HP:0001249	Intellectual disability
ORPHA:904	GTF2IRD1	9569	HP:0001634	Mitral valve prolapse
ORPHA:904	GTF2IRD1	9569	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	GTF2IRD1	9569	HP:0000389	Chronic otitis media
ORPHA:904	GTF2IRD1	9569	HP:0000411	Protruding ear
ORPHA:904	GTF2IRD1	9569	HP:0001642	Pulmonic stenosis
ORPHA:904	GTF2IRD1	9569	HP:0100025	Overfriendliness
ORPHA:904	GTF2IRD1	9569	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	GTF2IRD1	9569	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	GTF2IRD1	9569	HP:0000125	Pelvic kidney
ORPHA:904	GTF2IRD1	9569	HP:0000232	Everted lower lip vermilion
ORPHA:904	GTF2IRD1	9569	HP:0000431	Wide nasal bridge
ORPHA:904	GTF2IRD1	9569	HP:0000689	Dental malocclusion
ORPHA:904	GTF2IRD1	9569	HP:0001257	Spasticity
ORPHA:904	GTF2IRD1	9569	HP:0004428	Elfin facies
ORPHA:904	GTF2IRD1	9569	HP:0000486	Strabismus
ORPHA:904	GTF2IRD1	9569	HP:0000280	Coarse facial features
ORPHA:904	GTF2IRD1	9569	HP:0000337	Broad forehead
ORPHA:904	GTF2IRD1	9569	HP:0000960	Sacral dimple
ORPHA:904	GTF2IRD1	9569	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	GTF2IRD1	9569	HP:0001297	Stroke
ORPHA:904	GTF2IRD1	9569	HP:0000348	High forehead
ORPHA:904	GTF2IRD1	9569	HP:0100817	Renovascular hypertension
ORPHA:904	GTF2IRD1	9569	HP:0008499	High-grade hypermetropia
ORPHA:904	GTF2IRD1	9569	HP:0001252	Muscular hypotonia
ORPHA:904	GTF2IRD1	9569	HP:0003307	Hyperlordosis
ORPHA:904	GTF2IRD1	9569	HP:0100785	Insomnia
ORPHA:904	GTF2IRD1	9569	HP:0000682	Abnormality of dental enamel
ORPHA:904	GTF2IRD1	9569	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	GTF2IRD1	9569	HP:0001653	Mitral regurgitation
ORPHA:904	GTF2IRD1	9569	HP:0000252	Microcephaly
ORPHA:904	GTF2IRD1	9569	HP:0000275	Narrow face
ORPHA:904	GTF2IRD1	9569	HP:0000307	Pointed chin
ORPHA:904	GTF2IRD1	9569	HP:0000343	Long philtrum
ORPHA:904	GTF2IRD1	9569	HP:0000407	Sensorineural hearing impairment
ORPHA:904	GTF2IRD1	9569	HP:0001822	Hallux valgus
ORPHA:904	GTF2IRD1	9569	HP:0001763	Pes planus
ORPHA:904	GTF2IRD1	9569	HP:0000158	Macroglossia
ORPHA:904	GTF2IRD1	9569	HP:0002183	Phonophobia
ORPHA:904	GTF2IRD1	9569	HP:0002808	Kyphosis
ORPHA:904	GTF2IRD1	9569	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	GTF2IRD1	9569	HP:0000739	Anxiety
ORPHA:904	GTF2IRD1	9569	HP:0002141	Gait imbalance
ORPHA:904	GTF2IRD1	9569	HP:0000023	Inguinal hernia
ORPHA:904	GTF2IRD1	9569	HP:0000716	Depressivity
ORPHA:904	GTF2IRD1	9569	HP:0001337	Tremor
ORPHA:904	GTF2IRD1	9569	HP:0001513	Obesity
ORPHA:904	GTF2IRD1	9569	HP:0001347	Hyperreflexia
ORPHA:904	GTF2IRD1	9569	HP:0002027	Abdominal pain
ORPHA:904	GTF2IRD1	9569	HP:0200021	Down-sloping shoulders
ORPHA:904	GTF2IRD1	9569	HP:0000286	Epicanthus
ORPHA:904	GTF2IRD1	9569	HP:0001800	Hypoplastic toenails
ORPHA:904	GTF2IRD1	9569	HP:0002017	Nausea and vomiting
ORPHA:904	GTF2IRD1	9569	HP:0000179	Thick lower lip vermilion
ORPHA:904	GTF2IRD1	9569	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	GTF2IRD1	9569	HP:0003072	Hypercalcemia
ORPHA:904	GTF2IRD1	9569	HP:0000464	Abnormality of the neck
ORPHA:904	GTF2IRD1	9569	HP:0001231	Abnormality of the fingernails
ORPHA:904	GTF2IRD1	9569	HP:0010780	Hyperacusis
ORPHA:904	GTF2IRD1	9569	HP:0001310	Dysmetria
ORPHA:904	GTF2IRD1	9569	HP:0000668	Hypodontia
ORPHA:904	GTF2IRD1	9569	HP:0002019	Constipation
ORPHA:904	GTF2IRD1	9569	HP:0001387	Joint stiffness
ORPHA:904	GTF2IRD1	9569	HP:0000581	Blepharophimosis
ORPHA:904	GTF2IRD1	9569	HP:0000154	Wide mouth
ORPHA:904	GTF2IRD1	9569	HP:0000691	Microdontia
ORPHA:904	GTF2IRD1	9569	HP:0100539	Periorbital edema
ORPHA:904	GTF2IRD1	9569	HP:0000505	Visual impairment
ORPHA:904	GTF2IRD1	9569	HP:0004322	Short stature
ORPHA:904	GTF2IRD1	9569	HP:0010807	Open bite
ORPHA:904	CLIP2	7461	HP:0001531	Failure to thrive in infancy
ORPHA:904	CLIP2	7461	HP:0002829	Arthralgia
ORPHA:904	CLIP2	7461	HP:0002857	Genu valgum
ORPHA:904	CLIP2	7461	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	CLIP2	7461	HP:0000093	Proteinuria
ORPHA:904	CLIP2	7461	HP:0002150	Hypercalciuria
ORPHA:904	CLIP2	7461	HP:0001582	Redundant skin
ORPHA:904	CLIP2	7461	HP:0000083	Renal insufficiency
ORPHA:904	CLIP2	7461	HP:0010526	Dysgraphia
ORPHA:904	CLIP2	7461	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	CLIP2	7461	HP:0000400	Macrotia
ORPHA:904	CLIP2	7461	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	CLIP2	7461	HP:0000347	Micrognathia
ORPHA:904	CLIP2	7461	HP:0001609	Hoarse voice
ORPHA:904	CLIP2	7461	HP:0003196	Short nose
ORPHA:904	CLIP2	7461	HP:0000717	Autism
ORPHA:904	CLIP2	7461	HP:0002253	Colonic diverticula
ORPHA:904	CLIP2	7461	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	CLIP2	7461	HP:0002637	Cerebral ischemia
ORPHA:904	CLIP2	7461	HP:0001249	Intellectual disability
ORPHA:904	CLIP2	7461	HP:0001634	Mitral valve prolapse
ORPHA:904	CLIP2	7461	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	CLIP2	7461	HP:0000389	Chronic otitis media
ORPHA:904	CLIP2	7461	HP:0000411	Protruding ear
ORPHA:904	CLIP2	7461	HP:0001642	Pulmonic stenosis
ORPHA:904	CLIP2	7461	HP:0100025	Overfriendliness
ORPHA:904	CLIP2	7461	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	CLIP2	7461	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	CLIP2	7461	HP:0000125	Pelvic kidney
ORPHA:904	CLIP2	7461	HP:0000232	Everted lower lip vermilion
ORPHA:904	CLIP2	7461	HP:0000431	Wide nasal bridge
ORPHA:904	CLIP2	7461	HP:0000689	Dental malocclusion
ORPHA:904	CLIP2	7461	HP:0001257	Spasticity
ORPHA:904	CLIP2	7461	HP:0004428	Elfin facies
ORPHA:904	CLIP2	7461	HP:0000486	Strabismus
ORPHA:904	CLIP2	7461	HP:0000280	Coarse facial features
ORPHA:904	CLIP2	7461	HP:0000337	Broad forehead
ORPHA:904	CLIP2	7461	HP:0000960	Sacral dimple
ORPHA:904	CLIP2	7461	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	CLIP2	7461	HP:0001297	Stroke
ORPHA:904	CLIP2	7461	HP:0000348	High forehead
ORPHA:904	CLIP2	7461	HP:0100817	Renovascular hypertension
ORPHA:904	CLIP2	7461	HP:0008499	High-grade hypermetropia
ORPHA:904	CLIP2	7461	HP:0001252	Muscular hypotonia
ORPHA:904	CLIP2	7461	HP:0003307	Hyperlordosis
ORPHA:904	CLIP2	7461	HP:0100785	Insomnia
ORPHA:904	CLIP2	7461	HP:0000682	Abnormality of dental enamel
ORPHA:904	CLIP2	7461	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	CLIP2	7461	HP:0001653	Mitral regurgitation
ORPHA:904	CLIP2	7461	HP:0000252	Microcephaly
ORPHA:904	CLIP2	7461	HP:0000275	Narrow face
ORPHA:904	CLIP2	7461	HP:0000307	Pointed chin
ORPHA:904	CLIP2	7461	HP:0000343	Long philtrum
ORPHA:904	CLIP2	7461	HP:0000407	Sensorineural hearing impairment
ORPHA:904	CLIP2	7461	HP:0001822	Hallux valgus
ORPHA:904	CLIP2	7461	HP:0001763	Pes planus
ORPHA:904	CLIP2	7461	HP:0000158	Macroglossia
ORPHA:904	CLIP2	7461	HP:0002183	Phonophobia
ORPHA:904	CLIP2	7461	HP:0002808	Kyphosis
ORPHA:904	CLIP2	7461	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	CLIP2	7461	HP:0000739	Anxiety
ORPHA:904	CLIP2	7461	HP:0002141	Gait imbalance
ORPHA:904	CLIP2	7461	HP:0000023	Inguinal hernia
ORPHA:904	CLIP2	7461	HP:0000716	Depressivity
ORPHA:904	CLIP2	7461	HP:0001337	Tremor
ORPHA:904	CLIP2	7461	HP:0001513	Obesity
ORPHA:904	CLIP2	7461	HP:0001347	Hyperreflexia
ORPHA:904	CLIP2	7461	HP:0002027	Abdominal pain
ORPHA:904	CLIP2	7461	HP:0200021	Down-sloping shoulders
ORPHA:904	CLIP2	7461	HP:0000286	Epicanthus
ORPHA:904	CLIP2	7461	HP:0001800	Hypoplastic toenails
ORPHA:904	CLIP2	7461	HP:0002017	Nausea and vomiting
ORPHA:904	CLIP2	7461	HP:0000179	Thick lower lip vermilion
ORPHA:904	CLIP2	7461	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	CLIP2	7461	HP:0003072	Hypercalcemia
ORPHA:904	CLIP2	7461	HP:0000464	Abnormality of the neck
ORPHA:904	CLIP2	7461	HP:0001231	Abnormality of the fingernails
ORPHA:904	CLIP2	7461	HP:0010780	Hyperacusis
ORPHA:904	CLIP2	7461	HP:0001310	Dysmetria
ORPHA:904	CLIP2	7461	HP:0000668	Hypodontia
ORPHA:904	CLIP2	7461	HP:0002019	Constipation
ORPHA:904	CLIP2	7461	HP:0001387	Joint stiffness
ORPHA:904	CLIP2	7461	HP:0000581	Blepharophimosis
ORPHA:904	CLIP2	7461	HP:0000154	Wide mouth
ORPHA:904	CLIP2	7461	HP:0000691	Microdontia
ORPHA:904	CLIP2	7461	HP:0100539	Periorbital edema
ORPHA:904	CLIP2	7461	HP:0000505	Visual impairment
ORPHA:904	CLIP2	7461	HP:0004322	Short stature
ORPHA:904	CLIP2	7461	HP:0010807	Open bite
ORPHA:904	ELN	2006	HP:0001531	Failure to thrive in infancy
ORPHA:904	ELN	2006	HP:0002829	Arthralgia
ORPHA:904	ELN	2006	HP:0002857	Genu valgum
ORPHA:904	ELN	2006	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	ELN	2006	HP:0000093	Proteinuria
ORPHA:904	ELN	2006	HP:0002150	Hypercalciuria
ORPHA:904	ELN	2006	HP:0001582	Redundant skin
ORPHA:904	ELN	2006	HP:0000083	Renal insufficiency
ORPHA:904	ELN	2006	HP:0010526	Dysgraphia
ORPHA:904	ELN	2006	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	ELN	2006	HP:0000400	Macrotia
ORPHA:904	ELN	2006	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	ELN	2006	HP:0000347	Micrognathia
ORPHA:904	ELN	2006	HP:0001609	Hoarse voice
ORPHA:904	ELN	2006	HP:0003196	Short nose
ORPHA:904	ELN	2006	HP:0000717	Autism
ORPHA:904	ELN	2006	HP:0002253	Colonic diverticula
ORPHA:904	ELN	2006	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	ELN	2006	HP:0002637	Cerebral ischemia
ORPHA:904	ELN	2006	HP:0001249	Intellectual disability
ORPHA:904	ELN	2006	HP:0001634	Mitral valve prolapse
ORPHA:904	ELN	2006	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	ELN	2006	HP:0000389	Chronic otitis media
ORPHA:904	ELN	2006	HP:0000411	Protruding ear
ORPHA:904	ELN	2006	HP:0001642	Pulmonic stenosis
ORPHA:904	ELN	2006	HP:0100025	Overfriendliness
ORPHA:904	ELN	2006	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	ELN	2006	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	ELN	2006	HP:0000125	Pelvic kidney
ORPHA:904	ELN	2006	HP:0000232	Everted lower lip vermilion
ORPHA:904	ELN	2006	HP:0000431	Wide nasal bridge
ORPHA:904	ELN	2006	HP:0000689	Dental malocclusion
ORPHA:904	ELN	2006	HP:0001257	Spasticity
ORPHA:904	ELN	2006	HP:0004428	Elfin facies
ORPHA:904	ELN	2006	HP:0000486	Strabismus
ORPHA:904	ELN	2006	HP:0000280	Coarse facial features
ORPHA:904	ELN	2006	HP:0000337	Broad forehead
ORPHA:904	ELN	2006	HP:0000960	Sacral dimple
ORPHA:904	ELN	2006	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	ELN	2006	HP:0001297	Stroke
ORPHA:904	ELN	2006	HP:0000348	High forehead
ORPHA:904	ELN	2006	HP:0100817	Renovascular hypertension
ORPHA:904	ELN	2006	HP:0008499	High-grade hypermetropia
ORPHA:904	ELN	2006	HP:0001252	Muscular hypotonia
ORPHA:904	ELN	2006	HP:0003307	Hyperlordosis
ORPHA:904	ELN	2006	HP:0100785	Insomnia
ORPHA:904	ELN	2006	HP:0000682	Abnormality of dental enamel
ORPHA:904	ELN	2006	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	ELN	2006	HP:0001653	Mitral regurgitation
ORPHA:904	ELN	2006	HP:0000252	Microcephaly
ORPHA:904	ELN	2006	HP:0000275	Narrow face
ORPHA:904	ELN	2006	HP:0000307	Pointed chin
ORPHA:904	ELN	2006	HP:0000343	Long philtrum
ORPHA:904	ELN	2006	HP:0000407	Sensorineural hearing impairment
ORPHA:904	ELN	2006	HP:0001822	Hallux valgus
ORPHA:904	ELN	2006	HP:0001763	Pes planus
ORPHA:904	ELN	2006	HP:0000158	Macroglossia
ORPHA:904	ELN	2006	HP:0002183	Phonophobia
ORPHA:904	ELN	2006	HP:0002808	Kyphosis
ORPHA:904	ELN	2006	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	ELN	2006	HP:0000739	Anxiety
ORPHA:904	ELN	2006	HP:0002141	Gait imbalance
ORPHA:904	ELN	2006	HP:0000023	Inguinal hernia
ORPHA:904	ELN	2006	HP:0000716	Depressivity
ORPHA:904	ELN	2006	HP:0001337	Tremor
ORPHA:904	ELN	2006	HP:0001513	Obesity
ORPHA:904	ELN	2006	HP:0001347	Hyperreflexia
ORPHA:904	ELN	2006	HP:0002027	Abdominal pain
ORPHA:904	ELN	2006	HP:0200021	Down-sloping shoulders
ORPHA:904	ELN	2006	HP:0000286	Epicanthus
ORPHA:904	ELN	2006	HP:0001800	Hypoplastic toenails
ORPHA:904	ELN	2006	HP:0002017	Nausea and vomiting
ORPHA:904	ELN	2006	HP:0000179	Thick lower lip vermilion
ORPHA:904	ELN	2006	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	ELN	2006	HP:0003072	Hypercalcemia
ORPHA:904	ELN	2006	HP:0000464	Abnormality of the neck
ORPHA:904	ELN	2006	HP:0001231	Abnormality of the fingernails
ORPHA:904	ELN	2006	HP:0010780	Hyperacusis
ORPHA:904	ELN	2006	HP:0001310	Dysmetria
ORPHA:904	ELN	2006	HP:0000668	Hypodontia
ORPHA:904	ELN	2006	HP:0002019	Constipation
ORPHA:904	ELN	2006	HP:0001387	Joint stiffness
ORPHA:904	ELN	2006	HP:0000581	Blepharophimosis
ORPHA:904	ELN	2006	HP:0000154	Wide mouth
ORPHA:904	ELN	2006	HP:0000691	Microdontia
ORPHA:904	ELN	2006	HP:0100539	Periorbital edema
ORPHA:904	ELN	2006	HP:0000505	Visual impairment
ORPHA:904	ELN	2006	HP:0004322	Short stature
ORPHA:904	ELN	2006	HP:0010807	Open bite
ORPHA:904	BAZ1B	9031	HP:0001531	Failure to thrive in infancy
ORPHA:904	BAZ1B	9031	HP:0002829	Arthralgia
ORPHA:904	BAZ1B	9031	HP:0002857	Genu valgum
ORPHA:904	BAZ1B	9031	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	BAZ1B	9031	HP:0000093	Proteinuria
ORPHA:904	BAZ1B	9031	HP:0002150	Hypercalciuria
ORPHA:904	BAZ1B	9031	HP:0001582	Redundant skin
ORPHA:904	BAZ1B	9031	HP:0000083	Renal insufficiency
ORPHA:904	BAZ1B	9031	HP:0010526	Dysgraphia
ORPHA:904	BAZ1B	9031	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	BAZ1B	9031	HP:0000400	Macrotia
ORPHA:904	BAZ1B	9031	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	BAZ1B	9031	HP:0000347	Micrognathia
ORPHA:904	BAZ1B	9031	HP:0001609	Hoarse voice
ORPHA:904	BAZ1B	9031	HP:0003196	Short nose
ORPHA:904	BAZ1B	9031	HP:0000717	Autism
ORPHA:904	BAZ1B	9031	HP:0002253	Colonic diverticula
ORPHA:904	BAZ1B	9031	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	BAZ1B	9031	HP:0002637	Cerebral ischemia
ORPHA:904	BAZ1B	9031	HP:0001249	Intellectual disability
ORPHA:904	BAZ1B	9031	HP:0001634	Mitral valve prolapse
ORPHA:904	BAZ1B	9031	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	BAZ1B	9031	HP:0000389	Chronic otitis media
ORPHA:904	BAZ1B	9031	HP:0000411	Protruding ear
ORPHA:904	BAZ1B	9031	HP:0001642	Pulmonic stenosis
ORPHA:904	BAZ1B	9031	HP:0100025	Overfriendliness
ORPHA:904	BAZ1B	9031	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	BAZ1B	9031	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	BAZ1B	9031	HP:0000125	Pelvic kidney
ORPHA:904	BAZ1B	9031	HP:0000232	Everted lower lip vermilion
ORPHA:904	BAZ1B	9031	HP:0000431	Wide nasal bridge
ORPHA:904	BAZ1B	9031	HP:0000689	Dental malocclusion
ORPHA:904	BAZ1B	9031	HP:0001257	Spasticity
ORPHA:904	BAZ1B	9031	HP:0004428	Elfin facies
ORPHA:904	BAZ1B	9031	HP:0000486	Strabismus
ORPHA:904	BAZ1B	9031	HP:0000280	Coarse facial features
ORPHA:904	BAZ1B	9031	HP:0000337	Broad forehead
ORPHA:904	BAZ1B	9031	HP:0000960	Sacral dimple
ORPHA:904	BAZ1B	9031	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	BAZ1B	9031	HP:0001297	Stroke
ORPHA:904	BAZ1B	9031	HP:0000348	High forehead
ORPHA:904	BAZ1B	9031	HP:0100817	Renovascular hypertension
ORPHA:904	BAZ1B	9031	HP:0008499	High-grade hypermetropia
ORPHA:904	BAZ1B	9031	HP:0001252	Muscular hypotonia
ORPHA:904	BAZ1B	9031	HP:0003307	Hyperlordosis
ORPHA:904	BAZ1B	9031	HP:0100785	Insomnia
ORPHA:904	BAZ1B	9031	HP:0000682	Abnormality of dental enamel
ORPHA:904	BAZ1B	9031	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	BAZ1B	9031	HP:0001653	Mitral regurgitation
ORPHA:904	BAZ1B	9031	HP:0000252	Microcephaly
ORPHA:904	BAZ1B	9031	HP:0000275	Narrow face
ORPHA:904	BAZ1B	9031	HP:0000307	Pointed chin
ORPHA:904	BAZ1B	9031	HP:0000343	Long philtrum
ORPHA:904	BAZ1B	9031	HP:0000407	Sensorineural hearing impairment
ORPHA:904	BAZ1B	9031	HP:0001822	Hallux valgus
ORPHA:904	BAZ1B	9031	HP:0001763	Pes planus
ORPHA:904	BAZ1B	9031	HP:0000158	Macroglossia
ORPHA:904	BAZ1B	9031	HP:0002183	Phonophobia
ORPHA:904	BAZ1B	9031	HP:0002808	Kyphosis
ORPHA:904	BAZ1B	9031	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	BAZ1B	9031	HP:0000739	Anxiety
ORPHA:904	BAZ1B	9031	HP:0002141	Gait imbalance
ORPHA:904	BAZ1B	9031	HP:0000023	Inguinal hernia
ORPHA:904	BAZ1B	9031	HP:0000716	Depressivity
ORPHA:904	BAZ1B	9031	HP:0001337	Tremor
ORPHA:904	BAZ1B	9031	HP:0001513	Obesity
ORPHA:904	BAZ1B	9031	HP:0001347	Hyperreflexia
ORPHA:904	BAZ1B	9031	HP:0002027	Abdominal pain
ORPHA:904	BAZ1B	9031	HP:0200021	Down-sloping shoulders
ORPHA:904	BAZ1B	9031	HP:0000286	Epicanthus
ORPHA:904	BAZ1B	9031	HP:0001800	Hypoplastic toenails
ORPHA:904	BAZ1B	9031	HP:0002017	Nausea and vomiting
ORPHA:904	BAZ1B	9031	HP:0000179	Thick lower lip vermilion
ORPHA:904	BAZ1B	9031	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	BAZ1B	9031	HP:0003072	Hypercalcemia
ORPHA:904	BAZ1B	9031	HP:0000464	Abnormality of the neck
ORPHA:904	BAZ1B	9031	HP:0001231	Abnormality of the fingernails
ORPHA:904	BAZ1B	9031	HP:0010780	Hyperacusis
ORPHA:904	BAZ1B	9031	HP:0001310	Dysmetria
ORPHA:904	BAZ1B	9031	HP:0000668	Hypodontia
ORPHA:904	BAZ1B	9031	HP:0002019	Constipation
ORPHA:904	BAZ1B	9031	HP:0001387	Joint stiffness
ORPHA:904	BAZ1B	9031	HP:0000581	Blepharophimosis
ORPHA:904	BAZ1B	9031	HP:0000154	Wide mouth
ORPHA:904	BAZ1B	9031	HP:0000691	Microdontia
ORPHA:904	BAZ1B	9031	HP:0100539	Periorbital edema
ORPHA:904	BAZ1B	9031	HP:0000505	Visual impairment
ORPHA:904	BAZ1B	9031	HP:0004322	Short stature
ORPHA:904	BAZ1B	9031	HP:0010807	Open bite
ORPHA:904	GTF2I	2969	HP:0001531	Failure to thrive in infancy
ORPHA:904	GTF2I	2969	HP:0002829	Arthralgia
ORPHA:904	GTF2I	2969	HP:0002857	Genu valgum
ORPHA:904	GTF2I	2969	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	GTF2I	2969	HP:0000093	Proteinuria
ORPHA:904	GTF2I	2969	HP:0002150	Hypercalciuria
ORPHA:904	GTF2I	2969	HP:0001582	Redundant skin
ORPHA:904	GTF2I	2969	HP:0000083	Renal insufficiency
ORPHA:904	GTF2I	2969	HP:0010526	Dysgraphia
ORPHA:904	GTF2I	2969	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	GTF2I	2969	HP:0000400	Macrotia
ORPHA:904	GTF2I	2969	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	GTF2I	2969	HP:0000347	Micrognathia
ORPHA:904	GTF2I	2969	HP:0001609	Hoarse voice
ORPHA:904	GTF2I	2969	HP:0003196	Short nose
ORPHA:904	GTF2I	2969	HP:0000717	Autism
ORPHA:904	GTF2I	2969	HP:0002253	Colonic diverticula
ORPHA:904	GTF2I	2969	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	GTF2I	2969	HP:0002637	Cerebral ischemia
ORPHA:904	GTF2I	2969	HP:0001249	Intellectual disability
ORPHA:904	GTF2I	2969	HP:0001634	Mitral valve prolapse
ORPHA:904	GTF2I	2969	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	GTF2I	2969	HP:0000389	Chronic otitis media
ORPHA:904	GTF2I	2969	HP:0000411	Protruding ear
ORPHA:904	GTF2I	2969	HP:0001642	Pulmonic stenosis
ORPHA:904	GTF2I	2969	HP:0100025	Overfriendliness
ORPHA:904	GTF2I	2969	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	GTF2I	2969	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	GTF2I	2969	HP:0000125	Pelvic kidney
ORPHA:904	GTF2I	2969	HP:0000232	Everted lower lip vermilion
ORPHA:904	GTF2I	2969	HP:0000431	Wide nasal bridge
ORPHA:904	GTF2I	2969	HP:0000689	Dental malocclusion
ORPHA:904	GTF2I	2969	HP:0001257	Spasticity
ORPHA:904	GTF2I	2969	HP:0004428	Elfin facies
ORPHA:904	GTF2I	2969	HP:0000486	Strabismus
ORPHA:904	GTF2I	2969	HP:0000280	Coarse facial features
ORPHA:904	GTF2I	2969	HP:0000337	Broad forehead
ORPHA:904	GTF2I	2969	HP:0000960	Sacral dimple
ORPHA:904	GTF2I	2969	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	GTF2I	2969	HP:0001297	Stroke
ORPHA:904	GTF2I	2969	HP:0000348	High forehead
ORPHA:904	GTF2I	2969	HP:0100817	Renovascular hypertension
ORPHA:904	GTF2I	2969	HP:0008499	High-grade hypermetropia
ORPHA:904	GTF2I	2969	HP:0001252	Muscular hypotonia
ORPHA:904	GTF2I	2969	HP:0003307	Hyperlordosis
ORPHA:904	GTF2I	2969	HP:0100785	Insomnia
ORPHA:904	GTF2I	2969	HP:0000682	Abnormality of dental enamel
ORPHA:904	GTF2I	2969	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	GTF2I	2969	HP:0001653	Mitral regurgitation
ORPHA:904	GTF2I	2969	HP:0000252	Microcephaly
ORPHA:904	GTF2I	2969	HP:0000275	Narrow face
ORPHA:904	GTF2I	2969	HP:0000307	Pointed chin
ORPHA:904	GTF2I	2969	HP:0000343	Long philtrum
ORPHA:904	GTF2I	2969	HP:0000407	Sensorineural hearing impairment
ORPHA:904	GTF2I	2969	HP:0001822	Hallux valgus
ORPHA:904	GTF2I	2969	HP:0001763	Pes planus
ORPHA:904	GTF2I	2969	HP:0000158	Macroglossia
ORPHA:904	GTF2I	2969	HP:0002183	Phonophobia
ORPHA:904	GTF2I	2969	HP:0002808	Kyphosis
ORPHA:904	GTF2I	2969	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	GTF2I	2969	HP:0000739	Anxiety
ORPHA:904	GTF2I	2969	HP:0002141	Gait imbalance
ORPHA:904	GTF2I	2969	HP:0000023	Inguinal hernia
ORPHA:904	GTF2I	2969	HP:0000716	Depressivity
ORPHA:904	GTF2I	2969	HP:0001337	Tremor
ORPHA:904	GTF2I	2969	HP:0001513	Obesity
ORPHA:904	GTF2I	2969	HP:0001347	Hyperreflexia
ORPHA:904	GTF2I	2969	HP:0002027	Abdominal pain
ORPHA:904	GTF2I	2969	HP:0200021	Down-sloping shoulders
ORPHA:904	GTF2I	2969	HP:0000286	Epicanthus
ORPHA:904	GTF2I	2969	HP:0001800	Hypoplastic toenails
ORPHA:904	GTF2I	2969	HP:0002017	Nausea and vomiting
ORPHA:904	GTF2I	2969	HP:0000179	Thick lower lip vermilion
ORPHA:904	GTF2I	2969	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	GTF2I	2969	HP:0003072	Hypercalcemia
ORPHA:904	GTF2I	2969	HP:0000464	Abnormality of the neck
ORPHA:904	GTF2I	2969	HP:0001231	Abnormality of the fingernails
ORPHA:904	GTF2I	2969	HP:0010780	Hyperacusis
ORPHA:904	GTF2I	2969	HP:0001310	Dysmetria
ORPHA:904	GTF2I	2969	HP:0000668	Hypodontia
ORPHA:904	GTF2I	2969	HP:0002019	Constipation
ORPHA:904	GTF2I	2969	HP:0001387	Joint stiffness
ORPHA:904	GTF2I	2969	HP:0000581	Blepharophimosis
ORPHA:904	GTF2I	2969	HP:0000154	Wide mouth
ORPHA:904	GTF2I	2969	HP:0000691	Microdontia
ORPHA:904	GTF2I	2969	HP:0100539	Periorbital edema
ORPHA:904	GTF2I	2969	HP:0000505	Visual impairment
ORPHA:904	GTF2I	2969	HP:0004322	Short stature
ORPHA:904	GTF2I	2969	HP:0010807	Open bite
ORPHA:904	RFC2	5982	HP:0001531	Failure to thrive in infancy
ORPHA:904	RFC2	5982	HP:0002829	Arthralgia
ORPHA:904	RFC2	5982	HP:0002857	Genu valgum
ORPHA:904	RFC2	5982	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	RFC2	5982	HP:0000093	Proteinuria
ORPHA:904	RFC2	5982	HP:0002150	Hypercalciuria
ORPHA:904	RFC2	5982	HP:0001582	Redundant skin
ORPHA:904	RFC2	5982	HP:0000083	Renal insufficiency
ORPHA:904	RFC2	5982	HP:0010526	Dysgraphia
ORPHA:904	RFC2	5982	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	RFC2	5982	HP:0000400	Macrotia
ORPHA:904	RFC2	5982	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	RFC2	5982	HP:0000347	Micrognathia
ORPHA:904	RFC2	5982	HP:0001609	Hoarse voice
ORPHA:904	RFC2	5982	HP:0003196	Short nose
ORPHA:904	RFC2	5982	HP:0000717	Autism
ORPHA:904	RFC2	5982	HP:0002253	Colonic diverticula
ORPHA:904	RFC2	5982	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	RFC2	5982	HP:0002637	Cerebral ischemia
ORPHA:904	RFC2	5982	HP:0001249	Intellectual disability
ORPHA:904	RFC2	5982	HP:0001634	Mitral valve prolapse
ORPHA:904	RFC2	5982	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	RFC2	5982	HP:0000389	Chronic otitis media
ORPHA:904	RFC2	5982	HP:0000411	Protruding ear
ORPHA:904	RFC2	5982	HP:0001642	Pulmonic stenosis
ORPHA:904	RFC2	5982	HP:0100025	Overfriendliness
ORPHA:904	RFC2	5982	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	RFC2	5982	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	RFC2	5982	HP:0000125	Pelvic kidney
ORPHA:904	RFC2	5982	HP:0000232	Everted lower lip vermilion
ORPHA:904	RFC2	5982	HP:0000431	Wide nasal bridge
ORPHA:904	RFC2	5982	HP:0000689	Dental malocclusion
ORPHA:904	RFC2	5982	HP:0001257	Spasticity
ORPHA:904	RFC2	5982	HP:0004428	Elfin facies
ORPHA:904	RFC2	5982	HP:0000486	Strabismus
ORPHA:904	RFC2	5982	HP:0000280	Coarse facial features
ORPHA:904	RFC2	5982	HP:0000337	Broad forehead
ORPHA:904	RFC2	5982	HP:0000960	Sacral dimple
ORPHA:904	RFC2	5982	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	RFC2	5982	HP:0001297	Stroke
ORPHA:904	RFC2	5982	HP:0000348	High forehead
ORPHA:904	RFC2	5982	HP:0100817	Renovascular hypertension
ORPHA:904	RFC2	5982	HP:0008499	High-grade hypermetropia
ORPHA:904	RFC2	5982	HP:0001252	Muscular hypotonia
ORPHA:904	RFC2	5982	HP:0003307	Hyperlordosis
ORPHA:904	RFC2	5982	HP:0100785	Insomnia
ORPHA:904	RFC2	5982	HP:0000682	Abnormality of dental enamel
ORPHA:904	RFC2	5982	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	RFC2	5982	HP:0001653	Mitral regurgitation
ORPHA:904	RFC2	5982	HP:0000252	Microcephaly
ORPHA:904	RFC2	5982	HP:0000275	Narrow face
ORPHA:904	RFC2	5982	HP:0000307	Pointed chin
ORPHA:904	RFC2	5982	HP:0000343	Long philtrum
ORPHA:904	RFC2	5982	HP:0000407	Sensorineural hearing impairment
ORPHA:904	RFC2	5982	HP:0001822	Hallux valgus
ORPHA:904	RFC2	5982	HP:0001763	Pes planus
ORPHA:904	RFC2	5982	HP:0000158	Macroglossia
ORPHA:904	RFC2	5982	HP:0002183	Phonophobia
ORPHA:904	RFC2	5982	HP:0002808	Kyphosis
ORPHA:904	RFC2	5982	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	RFC2	5982	HP:0000739	Anxiety
ORPHA:904	RFC2	5982	HP:0002141	Gait imbalance
ORPHA:904	RFC2	5982	HP:0000023	Inguinal hernia
ORPHA:904	RFC2	5982	HP:0000716	Depressivity
ORPHA:904	RFC2	5982	HP:0001337	Tremor
ORPHA:904	RFC2	5982	HP:0001513	Obesity
ORPHA:904	RFC2	5982	HP:0001347	Hyperreflexia
ORPHA:904	RFC2	5982	HP:0002027	Abdominal pain
ORPHA:904	RFC2	5982	HP:0200021	Down-sloping shoulders
ORPHA:904	RFC2	5982	HP:0000286	Epicanthus
ORPHA:904	RFC2	5982	HP:0001800	Hypoplastic toenails
ORPHA:904	RFC2	5982	HP:0002017	Nausea and vomiting
ORPHA:904	RFC2	5982	HP:0000179	Thick lower lip vermilion
ORPHA:904	RFC2	5982	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	RFC2	5982	HP:0003072	Hypercalcemia
ORPHA:904	RFC2	5982	HP:0000464	Abnormality of the neck
ORPHA:904	RFC2	5982	HP:0001231	Abnormality of the fingernails
ORPHA:904	RFC2	5982	HP:0010780	Hyperacusis
ORPHA:904	RFC2	5982	HP:0001310	Dysmetria
ORPHA:904	RFC2	5982	HP:0000668	Hypodontia
ORPHA:904	RFC2	5982	HP:0002019	Constipation
ORPHA:904	RFC2	5982	HP:0001387	Joint stiffness
ORPHA:904	RFC2	5982	HP:0000581	Blepharophimosis
ORPHA:904	RFC2	5982	HP:0000154	Wide mouth
ORPHA:904	RFC2	5982	HP:0000691	Microdontia
ORPHA:904	RFC2	5982	HP:0100539	Periorbital edema
ORPHA:904	RFC2	5982	HP:0000505	Visual impairment
ORPHA:904	RFC2	5982	HP:0004322	Short stature
ORPHA:904	RFC2	5982	HP:0010807	Open bite
OMIM:145600	RYR1	6261	HP:0002153	Hyperkalemia
OMIM:145600	RYR1	6261	HP:0001649	Tachycardia
OMIM:145600	RYR1	6261	HP:0002913	Myoglobinuria
OMIM:145600	RYR1	6261	HP:0002047	Malignant hyperthermia
OMIM:145600	RYR1	6261	HP:0001945	Fever
OMIM:145600	RYR1	6261	HP:0002905	Hyperphosphatemia
OMIM:145600	RYR1	6261	HP:0003256	Abnormality of the coagulation cascade
OMIM:145600	RYR1	6261	HP:0002615	Hypotension
OMIM:145600	RYR1	6261	HP:0003201	Rhabdomyolysis
OMIM:145600	RYR1	6261	HP:0003236	Elevated serum creatine phosphokinase
OMIM:145600	RYR1	6261	HP:0002063	Rigidity
OMIM:145600	RYR1	6261	HP:0005967	Mixed respiratory and metabolic acidosis
OMIM:145600	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:126600	EFEMP1	2202	HP:0000556	Retinal dystrophy
OMIM:126600	EFEMP1	2202	HP:0000505	Visual impairment
OMIM:126600	EFEMP1	2202	HP:0000006	Autosomal dominant inheritance
OMIM:126600	EFEMP1	2202	HP:0007937	Reticular pigmentary degeneration
ORPHA:647	NBN	4683	HP:0000252	Microcephaly
ORPHA:647	NBN	4683	HP:0000278	Retrognathia
ORPHA:647	NBN	4683	HP:0000448	Prominent nose
ORPHA:647	NBN	4683	HP:0001890	Autoimmune hemolytic anemia
ORPHA:647	NBN	4683	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:647	NBN	4683	HP:0000426	Prominent nasal bridge
ORPHA:647	NBN	4683	HP:0002028	Chronic diarrhea
ORPHA:647	NBN	4683	HP:0000470	Short neck
ORPHA:647	NBN	4683	HP:0100515	Pollakisuria
ORPHA:647	NBN	4683	HP:0000294	Low anterior hairline
ORPHA:647	NBN	4683	HP:0001268	Mental deterioration
ORPHA:647	NBN	4683	HP:0002025	Anal stenosis
ORPHA:647	NBN	4683	HP:0003220	Abnormality of chromosome stability
ORPHA:647	NBN	4683	HP:0004322	Short stature
ORPHA:647	NBN	4683	HP:0002002	Deep philtrum
ORPHA:647	NBN	4683	HP:0000364	Hearing abnormality
ORPHA:647	NBN	4683	HP:0000400	Macrotia
ORPHA:647	NBN	4683	HP:0000444	Convex nasal ridge
ORPHA:647	NBN	4683	HP:0004326	Cachexia
ORPHA:647	NBN	4683	HP:0006532	Recurrent pneumonia
ORPHA:647	NBN	4683	HP:0000340	Sloping forehead
ORPHA:647	NBN	4683	HP:0005280	Depressed nasal bridge
ORPHA:647	NBN	4683	HP:0005425	Recurrent sinopulmonary infections
ORPHA:647	NBN	4683	HP:0001873	Thrombocytopenia
ORPHA:647	NBN	4683	HP:0000582	Upslanted palpebral fissure
ORPHA:647	NBN	4683	HP:0011362	Abnormal hair quantity
ORPHA:647	NBN	4683	HP:0002023	Anal atresia
ORPHA:90050	FZD4	8322	HP:0001622	Premature birth
ORPHA:90050	FZD4	8322	HP:0001518	Small for gestational age
ORPHA:90050	NDP	4693	HP:0001622	Premature birth
ORPHA:90050	NDP	4693	HP:0001518	Small for gestational age
ORPHA:90050	LRP5	4041	HP:0001622	Premature birth
ORPHA:90050	LRP5	4041	HP:0001518	Small for gestational age
OMIM:616084	TRNT1	51095	HP:0001924	Sideroblastic anemia
OMIM:616084	TRNT1	51095	HP:0003828	Variable expressivity
OMIM:616084	TRNT1	51095	HP:0001263	Global developmental delay
OMIM:616084	TRNT1	51095	HP:0000007	Autosomal recessive inheritance
OMIM:616084	TRNT1	51095	HP:0004313	Decreased antibody level in blood
OMIM:616084	TRNT1	51095	HP:0001290	Generalized hypotonia
OMIM:616084	TRNT1	51095	HP:0004840	Hypochromic microcytic anemia
OMIM:174300	DDX59	83479	HP:0002007	Frontal bossing
OMIM:174300	DDX59	83479	HP:0000180	Lobulated tongue
OMIM:174300	DDX59	83479	HP:0000316	Hypertelorism
OMIM:174300	DDX59	83479	HP:0001249	Intellectual disability
OMIM:174300	DDX59	83479	HP:0000007	Autosomal recessive inheritance
OMIM:174300	DDX59	83479	HP:0000161	Median cleft lip
OMIM:174300	DDX59	83479	HP:0001830	Postaxial foot polydactyly
OMIM:174300	DDX59	83479	HP:0001162	Postaxial hand polydactyly
OMIM:603629	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:176400	KISS1R	84634	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:176400	KISS1R	84634	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:176400	KISS1R	84634	HP:0004322	Short stature
OMIM:176400	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:176400	KISS1R	84634	HP:0008236	Isosexual precocious puberty
OMIM:245600	B3GAT3	26229	HP:0005616	Accelerated skeletal maturation
OMIM:245600	B3GAT3	26229	HP:0000238	Hydrocephalus
OMIM:245600	B3GAT3	26229	HP:0000691	Microdontia
OMIM:245600	B3GAT3	26229	HP:0000774	Narrow chest
OMIM:245600	B3GAT3	26229	HP:0001763	Pes planus
OMIM:245600	B3GAT3	26229	HP:0003051	Enlarged metaphyses
OMIM:245600	B3GAT3	26229	HP:0000973	Cutis laxa
OMIM:245600	B3GAT3	26229	HP:0012095	Multiple joint dislocation
OMIM:245600	B3GAT3	26229	HP:0000274	Small face
OMIM:245600	B3GAT3	26229	HP:0011220	Prominent forehead
OMIM:245600	B3GAT3	26229	HP:0001772	Talipes equinovalgus
OMIM:245600	B3GAT3	26229	HP:0001087	Congenital glaucoma
OMIM:245600	B3GAT3	26229	HP:0002162	Low posterior hairline
OMIM:245600	B3GAT3	26229	HP:0000369	Low-set ears
OMIM:245600	B3GAT3	26229	HP:0002987	Elbow flexion contracture
OMIM:245600	B3GAT3	26229	HP:0001090	Large eyes
OMIM:245600	B3GAT3	26229	HP:0001388	Joint laxity
OMIM:245600	B3GAT3	26229	HP:0002650	Scoliosis
OMIM:245600	B3GAT3	26229	HP:0005021	Bilateral elbow dislocations
OMIM:245600	B3GAT3	26229	HP:0001647	Bicuspid aortic valve
OMIM:245600	B3GAT3	26229	HP:0009880	Broad distal phalanges of all fingers
OMIM:245600	B3GAT3	26229	HP:0001762	Talipes equinovarus
OMIM:245600	B3GAT3	26229	HP:0002827	Hip dislocation
OMIM:245600	B3GAT3	26229	HP:0000160	Narrow mouth
OMIM:245600	B3GAT3	26229	HP:0000007	Autosomal recessive inheritance
OMIM:245600	B3GAT3	26229	HP:0001840	Metatarsus adductus
OMIM:245600	B3GAT3	26229	HP:0000574	Thick eyebrow
OMIM:245600	B3GAT3	26229	HP:0001634	Mitral valve prolapse
OMIM:245600	B3GAT3	26229	HP:0002616	Aortic root dilatation
OMIM:245600	B3GAT3	26229	HP:0004976	Knee dislocation
OMIM:245600	B3GAT3	26229	HP:0001640	Cardiomegaly
OMIM:245600	B3GAT3	26229	HP:0001655	Patent foramen ovale
OMIM:245600	B3GAT3	26229	HP:0002007	Frontal bossing
OMIM:245600	B3GAT3	26229	HP:0000470	Short neck
OMIM:245600	B3GAT3	26229	HP:0000646	Amblyopia
OMIM:245600	B3GAT3	26229	HP:0000565	Esotropia
OMIM:245600	B3GAT3	26229	HP:0011800	Midface retrusion
OMIM:245600	B3GAT3	26229	HP:0000316	Hypertelorism
OMIM:245600	B3GAT3	26229	HP:0001222	Spatulate thumbs
OMIM:245600	B3GAT3	26229	HP:0000248	Brachycephaly
OMIM:245600	B3GAT3	26229	HP:0000494	Downslanted palpebral fissures
OMIM:245600	B3GAT3	26229	HP:0001712	Left ventricular hypertrophy
OMIM:245600	B3GAT3	26229	HP:0005280	Depressed nasal bridge
OMIM:245600	B3GAT3	26229	HP:0000938	Osteopenia
OMIM:245600	B3GAT3	26229	HP:0008551	Microtia
OMIM:245600	B3GAT3	26229	HP:0000540	Hypermetropia
OMIM:245600	B3GAT3	26229	HP:0000175	Cleft palate
OMIM:245600	B3GAT3	26229	HP:0002974	Radioulnar synostosis
OMIM:245600	CHST3	9469	HP:0005616	Accelerated skeletal maturation
OMIM:245600	CHST3	9469	HP:0000238	Hydrocephalus
OMIM:245600	CHST3	9469	HP:0000691	Microdontia
OMIM:245600	CHST3	9469	HP:0000774	Narrow chest
OMIM:245600	CHST3	9469	HP:0001763	Pes planus
OMIM:245600	CHST3	9469	HP:0003051	Enlarged metaphyses
OMIM:245600	CHST3	9469	HP:0000973	Cutis laxa
OMIM:245600	CHST3	9469	HP:0012095	Multiple joint dislocation
OMIM:245600	CHST3	9469	HP:0000274	Small face
OMIM:245600	CHST3	9469	HP:0011220	Prominent forehead
OMIM:245600	CHST3	9469	HP:0001772	Talipes equinovalgus
OMIM:245600	CHST3	9469	HP:0001087	Congenital glaucoma
OMIM:245600	CHST3	9469	HP:0002162	Low posterior hairline
OMIM:245600	CHST3	9469	HP:0000369	Low-set ears
OMIM:245600	CHST3	9469	HP:0002987	Elbow flexion contracture
OMIM:245600	CHST3	9469	HP:0001090	Large eyes
OMIM:245600	CHST3	9469	HP:0001388	Joint laxity
OMIM:245600	CHST3	9469	HP:0002650	Scoliosis
OMIM:245600	CHST3	9469	HP:0005021	Bilateral elbow dislocations
OMIM:245600	CHST3	9469	HP:0001647	Bicuspid aortic valve
OMIM:245600	CHST3	9469	HP:0009880	Broad distal phalanges of all fingers
OMIM:245600	CHST3	9469	HP:0001762	Talipes equinovarus
OMIM:245600	CHST3	9469	HP:0002827	Hip dislocation
OMIM:245600	CHST3	9469	HP:0000160	Narrow mouth
OMIM:245600	CHST3	9469	HP:0000007	Autosomal recessive inheritance
OMIM:245600	CHST3	9469	HP:0001840	Metatarsus adductus
OMIM:245600	CHST3	9469	HP:0000574	Thick eyebrow
OMIM:245600	CHST3	9469	HP:0001634	Mitral valve prolapse
OMIM:245600	CHST3	9469	HP:0002616	Aortic root dilatation
OMIM:245600	CHST3	9469	HP:0004976	Knee dislocation
OMIM:245600	CHST3	9469	HP:0001640	Cardiomegaly
OMIM:245600	CHST3	9469	HP:0001655	Patent foramen ovale
OMIM:245600	CHST3	9469	HP:0002007	Frontal bossing
OMIM:245600	CHST3	9469	HP:0000470	Short neck
OMIM:245600	CHST3	9469	HP:0000646	Amblyopia
OMIM:245600	CHST3	9469	HP:0000565	Esotropia
OMIM:245600	CHST3	9469	HP:0011800	Midface retrusion
OMIM:245600	CHST3	9469	HP:0000316	Hypertelorism
OMIM:245600	CHST3	9469	HP:0001222	Spatulate thumbs
OMIM:245600	CHST3	9469	HP:0000248	Brachycephaly
OMIM:245600	CHST3	9469	HP:0000494	Downslanted palpebral fissures
OMIM:245600	CHST3	9469	HP:0001712	Left ventricular hypertrophy
OMIM:245600	CHST3	9469	HP:0005280	Depressed nasal bridge
OMIM:245600	CHST3	9469	HP:0000938	Osteopenia
OMIM:245600	CHST3	9469	HP:0008551	Microtia
OMIM:245600	CHST3	9469	HP:0000540	Hypermetropia
OMIM:245600	CHST3	9469	HP:0000175	Cleft palate
OMIM:245600	CHST3	9469	HP:0002974	Radioulnar synostosis
OMIM:616570	ERCC5	2073	HP:0001511	Intrauterine growth retardation
OMIM:616570	ERCC5	2073	HP:0000369	Low-set ears
OMIM:616570	ERCC5	2073	HP:0001263	Global developmental delay
OMIM:616570	ERCC5	2073	HP:0001838	Rocker bottom foot
OMIM:616570	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:616570	ERCC5	2073	HP:0000969	Edema
OMIM:616570	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616570	ERCC5	2073	HP:0001558	Decreased fetal movement
OMIM:616570	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
OMIM:616570	ERCC5	2073	HP:0000252	Microcephaly
OMIM:616570	ERCC5	2073	HP:0000347	Micrognathia
OMIM:616570	ERCC5	2073	HP:0001762	Talipes equinovarus
OMIM:270800	CYP7B1	9420	HP:0000007	Autosomal recessive inheritance
OMIM:270800	CYP7B1	9420	HP:0000648	Optic atrophy
OMIM:270800	CYP7B1	9420	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270800	CYP7B1	9420	HP:0001347	Hyperreflexia
OMIM:270800	CYP7B1	9420	HP:0000020	Urinary incontinence
OMIM:270800	CYP7B1	9420	HP:0002061	Lower limb spasticity
OMIM:270800	CYP7B1	9420	HP:0001258	Spastic paraplegia
OMIM:270800	CYP7B1	9420	HP:0001260	Dysarthria
OMIM:270800	CYP7B1	9420	HP:0002064	Spastic gait
OMIM:270800	CYP7B1	9420	HP:0003487	Babinski sign
OMIM:270800	CYP7B1	9420	HP:0007340	Lower limb muscle weakness
OMIM:270800	CYP7B1	9420	HP:0003676	Progressive
OMIM:270800	CYP7B1	9420	HP:0010550	Paraplegia
OMIM:270800	CYP7B1	9420	HP:0006858	Impaired distal proprioception
OMIM:608970	CTNNA1	1495	HP:0000006	Autosomal dominant inheritance
OMIM:255160	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:255160	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:255160	MYH7	4625	HP:0003704	Scapuloperoneal weakness
OMIM:255160	MYH7	4625	HP:0001639	Hypertrophic cardiomyopathy
OMIM:255160	MYH7	4625	HP:0003697	Scapuloperoneal amyotrophy
OMIM:255160	MYH7	4625	HP:0003803	Type 1 muscle fiber predominance
OMIM:255160	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:255160	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:255160	MYH7	4625	HP:0002093	Respiratory insufficiency
OMIM:255160	MYH7	4625	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255160	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255160	MYH7	4625	HP:0003677	Slow progression
ORPHA:171829	SIM1	6492	HP:0000426	Prominent nasal bridge
ORPHA:171829	SIM1	6492	HP:0002353	EEG abnormality
ORPHA:171829	SIM1	6492	HP:0000369	Low-set ears
ORPHA:171829	SIM1	6492	HP:0000400	Macrotia
ORPHA:171829	SIM1	6492	HP:0001252	Muscular hypotonia
ORPHA:171829	SIM1	6492	HP:0000286	Epicanthus
ORPHA:171829	SIM1	6492	HP:0000293	Full cheeks
ORPHA:171829	SIM1	6492	HP:0000248	Brachycephaly
ORPHA:171829	SIM1	6492	HP:0000311	Round face
ORPHA:171829	SIM1	6492	HP:0000256	Macrocephaly
ORPHA:171829	SIM1	6492	HP:0001513	Obesity
ORPHA:171829	SIM1	6492	HP:0001263	Global developmental delay
ORPHA:171829	SIM1	6492	HP:0000308	Microretrognathia
ORPHA:171829	SIM1	6492	HP:0000486	Strabismus
ORPHA:171829	SIM1	6492	HP:0000750	Delayed speech and language development
ORPHA:171829	SIM1	6492	HP:0002591	Polyphagia
ORPHA:55654	RPL21	6144	HP:0001596	Alopecia
ORPHA:55654	RPL21	6144	HP:0002231	Sparse body hair
ORPHA:55654	RPL21	6144	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	RPL21	6144	HP:0000653	Sparse eyelashes
ORPHA:55654	RPL21	6144	HP:0000535	Sparse and thin eyebrow
ORPHA:55654	LPAR6	10161	HP:0001596	Alopecia
ORPHA:55654	LPAR6	10161	HP:0002231	Sparse body hair
ORPHA:55654	LPAR6	10161	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	LPAR6	10161	HP:0000653	Sparse eyelashes
ORPHA:55654	LPAR6	10161	HP:0000535	Sparse and thin eyebrow
ORPHA:55654	DSG4	147409	HP:0001596	Alopecia
ORPHA:55654	DSG4	147409	HP:0002231	Sparse body hair
ORPHA:55654	DSG4	147409	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	DSG4	147409	HP:0000653	Sparse eyelashes
ORPHA:55654	DSG4	147409	HP:0000535	Sparse and thin eyebrow
ORPHA:55654	APCDD1	147495	HP:0001596	Alopecia
ORPHA:55654	APCDD1	147495	HP:0002231	Sparse body hair
ORPHA:55654	APCDD1	147495	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	APCDD1	147495	HP:0000653	Sparse eyelashes
ORPHA:55654	APCDD1	147495	HP:0000535	Sparse and thin eyebrow
ORPHA:55654	SNRPE	6635	HP:0001596	Alopecia
ORPHA:55654	SNRPE	6635	HP:0002231	Sparse body hair
ORPHA:55654	SNRPE	6635	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	SNRPE	6635	HP:0000653	Sparse eyelashes
ORPHA:55654	SNRPE	6635	HP:0000535	Sparse and thin eyebrow
ORPHA:55654	LIPH	200879	HP:0001596	Alopecia
ORPHA:55654	LIPH	200879	HP:0002231	Sparse body hair
ORPHA:55654	LIPH	200879	HP:0004782	Hypotrichosis of the scalp
ORPHA:55654	LIPH	200879	HP:0000653	Sparse eyelashes
ORPHA:55654	LIPH	200879	HP:0000535	Sparse and thin eyebrow
OMIM:600965	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:600965	WFS1	7466	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	WFS1	7466	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:614131	MYO1E	4643	HP:0000007	Autosomal recessive inheritance
OMIM:614131	MYO1E	4643	HP:0000790	Hematuria
OMIM:614131	MYO1E	4643	HP:0000092	Tubular atrophy
OMIM:614131	MYO1E	4643	HP:0012622	Chronic kidney disease
OMIM:614131	MYO1E	4643	HP:0000100	Nephrotic syndrome
OMIM:614131	MYO1E	4643	HP:0003073	Hypoalbuminemia
OMIM:614131	MYO1E	4643	HP:0000969	Edema
OMIM:614131	MYO1E	4643	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614131	MYO1E	4643	HP:0003676	Progressive
OMIM:614131	MYO1E	4643	HP:0000093	Proteinuria
ORPHA:867	CYLD	1540	HP:0200034	Papule
ORPHA:867	CYLD	1540	HP:0001482	Subcutaneous nodule
ORPHA:867	CYLD	1540	HP:0100585	Telangiectasia of the skin
OMIM:185020	SLC4A11	83959	HP:0001744	Splenomegaly
OMIM:185020	SLC4A11	83959	HP:0001878	Hemolytic anemia
OMIM:185020	SLC4A11	83959	HP:0001923	Reticulocytosis
OMIM:185020	SLC4A11	83959	HP:0004446	Stomatocytosis
OMIM:185020	SLC4A11	83959	HP:0000006	Autosomal dominant inheritance
OMIM:185020	SLC4A11	83959	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:185020	SLC4A1	6521	HP:0001744	Splenomegaly
OMIM:185020	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:185020	SLC4A1	6521	HP:0001923	Reticulocytosis
OMIM:185020	SLC4A1	6521	HP:0004446	Stomatocytosis
OMIM:185020	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:185020	SLC4A1	6521	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:136	NOTCH3	4854	HP:0006824	Cranial nerve paralysis
ORPHA:136	NOTCH3	4854	HP:0002637	Cerebral ischemia
ORPHA:136	NOTCH3	4854	HP:0007328	Impaired pain sensation
ORPHA:136	NOTCH3	4854	HP:0000763	Sensory neuropathy
ORPHA:136	NOTCH3	4854	HP:0001288	Gait disturbance
ORPHA:136	NOTCH3	4854	HP:0001945	Fever
ORPHA:136	NOTCH3	4854	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:136	NOTCH3	4854	HP:0001289	Confusion
ORPHA:136	NOTCH3	4854	HP:0001136	Retinal arteriolar tortuosity
ORPHA:136	NOTCH3	4854	HP:0002354	Memory impairment
ORPHA:136	NOTCH3	4854	HP:0000726	Dementia
ORPHA:136	NOTCH3	4854	HP:0002076	Migraine
ORPHA:136	NOTCH3	4854	HP:0002120	Cerebral cortical atrophy
ORPHA:136	NOTCH3	4854	HP:0000505	Visual impairment
ORPHA:136	NOTCH3	4854	HP:0002381	Aphasia
ORPHA:136	NOTCH3	4854	HP:0002376	Developmental regression
ORPHA:136	NOTCH3	4854	HP:0000716	Depressivity
ORPHA:136	NOTCH3	4854	HP:0002353	EEG abnormality
ORPHA:136	NOTCH3	4854	HP:0001257	Spasticity
ORPHA:136	NOTCH3	4854	HP:0100576	Amaurosis fugax
ORPHA:136	NOTCH3	4854	HP:0002301	Hemiplegia
ORPHA:136	NOTCH3	4854	HP:0001259	Coma
ORPHA:974	NOTCH1	4851	HP:0000238	Hydrocephalus
ORPHA:974	NOTCH1	4851	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	NOTCH1	4851	HP:0004935	Pulmonary artery atresia
ORPHA:974	NOTCH1	4851	HP:0008070	Sparse hair
ORPHA:974	NOTCH1	4851	HP:0000486	Strabismus
ORPHA:974	NOTCH1	4851	HP:0000518	Cataract
ORPHA:974	NOTCH1	4851	HP:0009882	Short distal phalanx of finger
ORPHA:974	NOTCH1	4851	HP:0010760	Absent toe
ORPHA:974	NOTCH1	4851	HP:0001156	Brachydactyly
ORPHA:974	NOTCH1	4851	HP:0001883	Talipes
ORPHA:974	NOTCH1	4851	HP:0006101	Finger syndactyly
ORPHA:974	NOTCH1	4851	HP:0001057	Aplasia cutis congenita
ORPHA:974	NOTCH1	4851	HP:0001362	Calvarial skull defect
ORPHA:974	NOTCH1	4851	HP:0001636	Tetralogy of Fallot
ORPHA:974	NOTCH1	4851	HP:0001171	Split hand
ORPHA:974	NOTCH1	4851	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	NOTCH1	4851	HP:0000568	Microphthalmia
ORPHA:974	NOTCH1	4851	HP:0001508	Failure to thrive
ORPHA:974	NOTCH1	4851	HP:0000965	Cutis marmorata
ORPHA:974	NOTCH1	4851	HP:0004050	Absent hand
ORPHA:974	DOCK6	57572	HP:0000238	Hydrocephalus
ORPHA:974	DOCK6	57572	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	DOCK6	57572	HP:0004935	Pulmonary artery atresia
ORPHA:974	DOCK6	57572	HP:0008070	Sparse hair
ORPHA:974	DOCK6	57572	HP:0000486	Strabismus
ORPHA:974	DOCK6	57572	HP:0000518	Cataract
ORPHA:974	DOCK6	57572	HP:0009882	Short distal phalanx of finger
ORPHA:974	DOCK6	57572	HP:0010760	Absent toe
ORPHA:974	DOCK6	57572	HP:0001156	Brachydactyly
ORPHA:974	DOCK6	57572	HP:0001883	Talipes
ORPHA:974	DOCK6	57572	HP:0006101	Finger syndactyly
ORPHA:974	DOCK6	57572	HP:0001057	Aplasia cutis congenita
ORPHA:974	DOCK6	57572	HP:0001362	Calvarial skull defect
ORPHA:974	DOCK6	57572	HP:0001636	Tetralogy of Fallot
ORPHA:974	DOCK6	57572	HP:0001171	Split hand
ORPHA:974	DOCK6	57572	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	DOCK6	57572	HP:0000568	Microphthalmia
ORPHA:974	DOCK6	57572	HP:0001508	Failure to thrive
ORPHA:974	DOCK6	57572	HP:0000965	Cutis marmorata
ORPHA:974	DOCK6	57572	HP:0004050	Absent hand
ORPHA:974	EOGT	285203	HP:0000238	Hydrocephalus
ORPHA:974	EOGT	285203	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	EOGT	285203	HP:0004935	Pulmonary artery atresia
ORPHA:974	EOGT	285203	HP:0008070	Sparse hair
ORPHA:974	EOGT	285203	HP:0000486	Strabismus
ORPHA:974	EOGT	285203	HP:0000518	Cataract
ORPHA:974	EOGT	285203	HP:0009882	Short distal phalanx of finger
ORPHA:974	EOGT	285203	HP:0010760	Absent toe
ORPHA:974	EOGT	285203	HP:0001156	Brachydactyly
ORPHA:974	EOGT	285203	HP:0001883	Talipes
ORPHA:974	EOGT	285203	HP:0006101	Finger syndactyly
ORPHA:974	EOGT	285203	HP:0001057	Aplasia cutis congenita
ORPHA:974	EOGT	285203	HP:0001362	Calvarial skull defect
ORPHA:974	EOGT	285203	HP:0001636	Tetralogy of Fallot
ORPHA:974	EOGT	285203	HP:0001171	Split hand
ORPHA:974	EOGT	285203	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	EOGT	285203	HP:0000568	Microphthalmia
ORPHA:974	EOGT	285203	HP:0001508	Failure to thrive
ORPHA:974	EOGT	285203	HP:0000965	Cutis marmorata
ORPHA:974	EOGT	285203	HP:0004050	Absent hand
ORPHA:974	DLL4	54567	HP:0000238	Hydrocephalus
ORPHA:974	DLL4	54567	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	DLL4	54567	HP:0004935	Pulmonary artery atresia
ORPHA:974	DLL4	54567	HP:0008070	Sparse hair
ORPHA:974	DLL4	54567	HP:0000486	Strabismus
ORPHA:974	DLL4	54567	HP:0000518	Cataract
ORPHA:974	DLL4	54567	HP:0009882	Short distal phalanx of finger
ORPHA:974	DLL4	54567	HP:0010760	Absent toe
ORPHA:974	DLL4	54567	HP:0001156	Brachydactyly
ORPHA:974	DLL4	54567	HP:0001883	Talipes
ORPHA:974	DLL4	54567	HP:0006101	Finger syndactyly
ORPHA:974	DLL4	54567	HP:0001057	Aplasia cutis congenita
ORPHA:974	DLL4	54567	HP:0001362	Calvarial skull defect
ORPHA:974	DLL4	54567	HP:0001636	Tetralogy of Fallot
ORPHA:974	DLL4	54567	HP:0001171	Split hand
ORPHA:974	DLL4	54567	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	DLL4	54567	HP:0000568	Microphthalmia
ORPHA:974	DLL4	54567	HP:0001508	Failure to thrive
ORPHA:974	DLL4	54567	HP:0000965	Cutis marmorata
ORPHA:974	DLL4	54567	HP:0004050	Absent hand
ORPHA:974	ARHGAP31	57514	HP:0000238	Hydrocephalus
ORPHA:974	ARHGAP31	57514	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	ARHGAP31	57514	HP:0004935	Pulmonary artery atresia
ORPHA:974	ARHGAP31	57514	HP:0008070	Sparse hair
ORPHA:974	ARHGAP31	57514	HP:0000486	Strabismus
ORPHA:974	ARHGAP31	57514	HP:0000518	Cataract
ORPHA:974	ARHGAP31	57514	HP:0009882	Short distal phalanx of finger
ORPHA:974	ARHGAP31	57514	HP:0010760	Absent toe
ORPHA:974	ARHGAP31	57514	HP:0001156	Brachydactyly
ORPHA:974	ARHGAP31	57514	HP:0001883	Talipes
ORPHA:974	ARHGAP31	57514	HP:0006101	Finger syndactyly
ORPHA:974	ARHGAP31	57514	HP:0001057	Aplasia cutis congenita
ORPHA:974	ARHGAP31	57514	HP:0001362	Calvarial skull defect
ORPHA:974	ARHGAP31	57514	HP:0001636	Tetralogy of Fallot
ORPHA:974	ARHGAP31	57514	HP:0001171	Split hand
ORPHA:974	ARHGAP31	57514	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	ARHGAP31	57514	HP:0000568	Microphthalmia
ORPHA:974	ARHGAP31	57514	HP:0001508	Failure to thrive
ORPHA:974	ARHGAP31	57514	HP:0000965	Cutis marmorata
ORPHA:974	ARHGAP31	57514	HP:0004050	Absent hand
ORPHA:974	RBPJ	3516	HP:0000238	Hydrocephalus
ORPHA:974	RBPJ	3516	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:974	RBPJ	3516	HP:0004935	Pulmonary artery atresia
ORPHA:974	RBPJ	3516	HP:0008070	Sparse hair
ORPHA:974	RBPJ	3516	HP:0000486	Strabismus
ORPHA:974	RBPJ	3516	HP:0000518	Cataract
ORPHA:974	RBPJ	3516	HP:0009882	Short distal phalanx of finger
ORPHA:974	RBPJ	3516	HP:0010760	Absent toe
ORPHA:974	RBPJ	3516	HP:0001156	Brachydactyly
ORPHA:974	RBPJ	3516	HP:0001883	Talipes
ORPHA:974	RBPJ	3516	HP:0006101	Finger syndactyly
ORPHA:974	RBPJ	3516	HP:0001057	Aplasia cutis congenita
ORPHA:974	RBPJ	3516	HP:0001362	Calvarial skull defect
ORPHA:974	RBPJ	3516	HP:0001636	Tetralogy of Fallot
ORPHA:974	RBPJ	3516	HP:0001171	Split hand
ORPHA:974	RBPJ	3516	HP:0001163	Abnormality of the metacarpal bones
ORPHA:974	RBPJ	3516	HP:0000568	Microphthalmia
ORPHA:974	RBPJ	3516	HP:0001508	Failure to thrive
ORPHA:974	RBPJ	3516	HP:0000965	Cutis marmorata
ORPHA:974	RBPJ	3516	HP:0004050	Absent hand
ORPHA:480	RRM2B	50484	HP:0001315	Reduced tendon reflexes
ORPHA:480	RRM2B	50484	HP:0001709	Third degree atrioventricular block
ORPHA:480	RRM2B	50484	HP:0003200	Ragged-red muscle fibers
ORPHA:480	RRM2B	50484	HP:0000590	Progressive external ophthalmoplegia
ORPHA:480	RRM2B	50484	HP:0001252	Muscular hypotonia
ORPHA:480	RRM2B	50484	HP:0000830	Anterior hypopituitarism
ORPHA:480	RRM2B	50484	HP:0003202	Skeletal muscle atrophy
ORPHA:480	RRM2B	50484	HP:0003457	EMG abnormality
ORPHA:480	RRM2B	50484	HP:0000365	Hearing impairment
ORPHA:480	RRM2B	50484	HP:0001251	Ataxia
ORPHA:480	RRM2B	50484	HP:0007703	Abnormality of retinal pigmentation
ORPHA:480	RRM2B	50484	HP:0004622	Progressive intervertebral space narrowing
ORPHA:480	TRNL1	4567	HP:0001315	Reduced tendon reflexes
ORPHA:480	TRNL1	4567	HP:0001709	Third degree atrioventricular block
ORPHA:480	TRNL1	4567	HP:0003200	Ragged-red muscle fibers
ORPHA:480	TRNL1	4567	HP:0000590	Progressive external ophthalmoplegia
ORPHA:480	TRNL1	4567	HP:0001252	Muscular hypotonia
ORPHA:480	TRNL1	4567	HP:0000830	Anterior hypopituitarism
ORPHA:480	TRNL1	4567	HP:0003202	Skeletal muscle atrophy
ORPHA:480	TRNL1	4567	HP:0003457	EMG abnormality
ORPHA:480	TRNL1	4567	HP:0000365	Hearing impairment
ORPHA:480	TRNL1	4567	HP:0001251	Ataxia
ORPHA:480	TRNL1	4567	HP:0007703	Abnormality of retinal pigmentation
ORPHA:480	TRNL1	4567	HP:0004622	Progressive intervertebral space narrowing
ORPHA:480	ATP8	4509	HP:0001315	Reduced tendon reflexes
ORPHA:480	ATP8	4509	HP:0001709	Third degree atrioventricular block
ORPHA:480	ATP8	4509	HP:0003200	Ragged-red muscle fibers
ORPHA:480	ATP8	4509	HP:0000590	Progressive external ophthalmoplegia
ORPHA:480	ATP8	4509	HP:0001252	Muscular hypotonia
ORPHA:480	ATP8	4509	HP:0000830	Anterior hypopituitarism
ORPHA:480	ATP8	4509	HP:0003202	Skeletal muscle atrophy
ORPHA:480	ATP8	4509	HP:0003457	EMG abnormality
ORPHA:480	ATP8	4509	HP:0000365	Hearing impairment
ORPHA:480	ATP8	4509	HP:0001251	Ataxia
ORPHA:480	ATP8	4509	HP:0007703	Abnormality of retinal pigmentation
ORPHA:480	ATP8	4509	HP:0004622	Progressive intervertebral space narrowing
OMIM:612775	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:612775	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	ADAM9	8754	HP:0000505	Visual impairment
OMIM:274300	THRB	7068	HP:0001518	Small for gestational age
OMIM:274300	THRB	7068	HP:0002930	Thyroid hormone receptor defect
OMIM:274300	THRB	7068	HP:0010655	Epiphyseal stippling
OMIM:274300	THRB	7068	HP:0000365	Hearing impairment
OMIM:274300	THRB	7068	HP:0000853	Goiter
OMIM:274300	THRB	7068	HP:0000007	Autosomal recessive inheritance
OMIM:274300	THRB	7068	HP:0000520	Proptosis
ORPHA:560	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
ORPHA:560	COL11A1	1301	HP:0002738	Hypoplastic frontal sinuses
ORPHA:560	COL11A1	1301	HP:0000431	Wide nasal bridge
ORPHA:560	COL11A1	1301	HP:0000541	Retinal detachment
ORPHA:560	COL11A1	1301	HP:0012368	Flat face
ORPHA:560	COL11A1	1301	HP:0002758	Osteoarthritis
ORPHA:560	COL11A1	1301	HP:0000545	Myopia
ORPHA:560	COL11A1	1301	HP:0000505	Visual impairment
ORPHA:560	COL11A1	1301	HP:0000646	Amblyopia
ORPHA:560	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
ORPHA:560	COL11A1	1301	HP:0005280	Depressed nasal bridge
ORPHA:560	COL11A1	1301	HP:0000175	Cleft palate
ORPHA:560	COL11A1	1301	HP:0000520	Proptosis
ORPHA:560	COL11A1	1301	HP:0000327	Hypoplasia of the maxilla
ORPHA:560	COL11A1	1301	HP:0004322	Short stature
ORPHA:560	COL11A1	1301	HP:0001006	Hypotrichosis
ORPHA:560	COL11A1	1301	HP:0000215	Thick upper lip vermilion
ORPHA:560	COL11A1	1301	HP:0000518	Cataract
ORPHA:560	COL11A1	1301	HP:0002857	Genu valgum
ORPHA:560	COL11A1	1301	HP:0000966	Hypohidrosis
ORPHA:560	COL11A1	1301	HP:0000272	Malar flattening
ORPHA:560	COL11A1	1301	HP:0000347	Micrognathia
ORPHA:560	COL11A1	1301	HP:0000164	Abnormality of the dentition
ORPHA:560	COL11A1	1301	HP:0002829	Arthralgia
ORPHA:560	COL11A1	1301	HP:0000343	Long philtrum
ORPHA:560	COL11A1	1301	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:560	COL11A1	1301	HP:0002684	Thickened calvaria
ORPHA:560	COL11A1	1301	HP:0000501	Glaucoma
ORPHA:560	COL11A1	1301	HP:0000316	Hypertelorism
ORPHA:560	COL11A1	1301	HP:0002514	Cerebral calcification
ORPHA:560	COL11A1	1301	HP:0000179	Thick lower lip vermilion
ORPHA:560	COL11A1	1301	HP:0000248	Brachycephaly
ORPHA:560	COL11A1	1301	HP:0003196	Short nose
ORPHA:560	COL11A1	1301	HP:0000463	Anteverted nares
ORPHA:560	COL11A1	1301	HP:0001083	Ectopia lentis
ORPHA:560	COL11A1	1301	HP:0000655	Vitreoretinal degeneration
OMIM:614035	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614035	CLDN14	23562	HP:0003680	Nonprogressive
OMIM:614035	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:300604	POF1B	79983	HP:0000098	Tall stature
OMIM:300604	POF1B	79983	HP:0001419	X-linked recessive inheritance
OMIM:300604	POF1B	79983	HP:0000164	Abnormality of the dentition
OMIM:300604	POF1B	79983	HP:0000786	Primary amenorrhea
OMIM:300604	POF1B	79983	HP:0000939	Osteoporosis
OMIM:300604	POF1B	79983	HP:0008209	Premature ovarian insufficiency
OMIM:300604	POF1B	79983	HP:0000823	Delayed puberty
OMIM:604290	CP	1356	HP:0000643	Blepharospasm
OMIM:604290	CP	1356	HP:0001251	Ataxia
OMIM:604290	CP	1356	HP:0025498	Aceruloplasminemia
OMIM:604290	CP	1356	HP:0002396	Cogwheel rigidity
OMIM:604290	CP	1356	HP:0000473	Torticollis
OMIM:604290	CP	1356	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:604290	CP	1356	HP:0000819	Diabetes mellitus
OMIM:604290	CP	1356	HP:0000546	Retinal degeneration
OMIM:604290	CP	1356	HP:0040303	Decreased serum iron
OMIM:604290	CP	1356	HP:0003581	Adult onset
OMIM:604290	CP	1356	HP:0000007	Autosomal recessive inheritance
OMIM:604290	CP	1356	HP:0000726	Dementia
OMIM:604290	CP	1356	HP:0001260	Dysarthria
OMIM:604290	CP	1356	HP:0001903	Anemia
OMIM:604290	CP	1356	HP:0002072	Chorea
OMIM:604290	CP	1356	HP:0002168	Scanning speech
OMIM:604290	CP	1356	HP:0003281	Increased serum ferritin
OMIM:125850	HNF4A	3172	HP:0004904	Maturity-onset diabetes of the young
OMIM:125850	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:613641	KARS	3735	HP:0001263	Global developmental delay
OMIM:613641	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613641	KARS	3735	HP:0001265	Hyporeflexia
OMIM:613641	KARS	3735	HP:0009588	Vestibular Schwannoma
OMIM:613641	KARS	3735	HP:0001284	Areflexia
OMIM:613641	KARS	3735	HP:0003376	Steppage gait
OMIM:613641	KARS	3735	HP:0002936	Distal sensory impairment
OMIM:613641	KARS	3735	HP:0001761	Pes cavus
OMIM:613641	KARS	3735	HP:0009027	Foot dorsiflexor weakness
OMIM:272440	CKAP2L	150468	HP:0000954	Single transverse palmar crease
OMIM:272440	CKAP2L	150468	HP:0001250	Seizures
OMIM:272440	CKAP2L	150468	HP:0000431	Wide nasal bridge
OMIM:272440	CKAP2L	150468	HP:0010714	2-4 toe syndactyly
OMIM:272440	CKAP2L	150468	HP:0009765	Low hanging columella
OMIM:272440	CKAP2L	150468	HP:0001332	Dystonia
OMIM:272440	CKAP2L	150468	HP:0000337	Broad forehead
OMIM:272440	CKAP2L	150468	HP:0000648	Optic atrophy
OMIM:272440	CKAP2L	150468	HP:0004325	Decreased body weight
OMIM:272440	CKAP2L	150468	HP:0000691	Microdontia
OMIM:272440	CKAP2L	150468	HP:0001511	Intrauterine growth retardation
OMIM:272440	CKAP2L	150468	HP:0000520	Proptosis
OMIM:272440	CKAP2L	150468	HP:0011335	Frontal hirsutism
OMIM:272440	CKAP2L	150468	HP:0008897	Postnatal growth retardation
OMIM:272440	CKAP2L	150468	HP:0000505	Visual impairment
OMIM:272440	CKAP2L	150468	HP:0000430	Underdeveloped nasal alae
OMIM:272440	CKAP2L	150468	HP:0000233	Thin vermilion border
OMIM:272440	CKAP2L	150468	HP:0000252	Microcephaly
OMIM:272440	CKAP2L	150468	HP:0000322	Short philtrum
OMIM:272440	CKAP2L	150468	HP:0000007	Autosomal recessive inheritance
OMIM:272440	CKAP2L	150468	HP:0001272	Cerebellar atrophy
OMIM:272440	CKAP2L	150468	HP:0001629	Ventricular septal defect
OMIM:272440	CKAP2L	150468	HP:0000028	Cryptorchidism
OMIM:272440	CKAP2L	150468	HP:0001249	Intellectual disability
OMIM:615716	PGAP3	93210	HP:0000007	Autosomal recessive inheritance
OMIM:615716	PGAP3	93210	HP:0003593	Infantile onset
OMIM:615716	PGAP3	93210	HP:0000252	Microcephaly
OMIM:615716	PGAP3	93210	HP:0002540	Inability to walk
OMIM:615716	PGAP3	93210	HP:0001263	Global developmental delay
OMIM:615716	PGAP3	93210	HP:0003155	Elevated alkaline phosphatase
OMIM:615716	PGAP3	93210	HP:0000316	Hypertelorism
OMIM:615716	PGAP3	93210	HP:0000219	Thin upper lip vermilion
OMIM:615716	PGAP3	93210	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PGAP3	93210	HP:0000455	Broad nasal tip
OMIM:615716	PGAP3	93210	HP:0003763	Bruxism
OMIM:615716	PGAP3	93210	HP:0004305	Involuntary movements
OMIM:615716	PGAP3	93210	HP:0001250	Seizures
OMIM:615716	PGAP3	93210	HP:0000431	Wide nasal bridge
OMIM:615716	PGAP3	93210	HP:0001290	Generalized hypotonia
OMIM:615716	PGAP3	93210	HP:0010804	Tented upper lip vermilion
OMIM:615716	PGAP3	93210	HP:0001249	Intellectual disability
OMIM:141749	HBB	3043	HP:0011904	Persistence of hemoglobin F
OMIM:141749	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:141749	HBG1	3047	HP:0011904	Persistence of hemoglobin F
OMIM:141749	HBG1	3047	HP:0000006	Autosomal dominant inheritance
OMIM:141749	HBG2	3048	HP:0011904	Persistence of hemoglobin F
OMIM:141749	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:259770	LRP5	4041	HP:0000667	Phthisis bulbi
OMIM:259770	LRP5	4041	HP:0002756	Pathologic fracture
OMIM:259770	LRP5	4041	HP:0000518	Cataract
OMIM:259770	LRP5	4041	HP:0001290	Generalized hypotonia
OMIM:259770	LRP5	4041	HP:0001382	Joint hypermobility
OMIM:259770	LRP5	4041	HP:0001089	Iris atrophy
OMIM:259770	LRP5	4041	HP:0001552	Barrel-shaped chest
OMIM:259770	LRP5	4041	HP:0002659	Increased susceptibility to fractures
OMIM:259770	LRP5	4041	HP:0009733	Glioma
OMIM:259770	LRP5	4041	HP:0000939	Osteoporosis
OMIM:259770	LRP5	4041	HP:0000568	Microphthalmia
OMIM:259770	LRP5	4041	HP:0000926	Platyspondyly
OMIM:259770	LRP5	4041	HP:0007773	Vitreoretinopathy
OMIM:259770	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:259770	LRP5	4041	HP:0008037	Absent anterior eye chamber
OMIM:259770	LRP5	4041	HP:0000618	Blindness
OMIM:259770	LRP5	4041	HP:0003016	Metaphyseal widening
OMIM:259770	LRP5	4041	HP:0000252	Microcephaly
OMIM:259770	LRP5	4041	HP:0001629	Ventricular septal defect
OMIM:259770	LRP5	4041	HP:0002751	Kyphoscoliosis
OMIM:259770	LRP5	4041	HP:0004322	Short stature
OMIM:259770	LRP5	4041	HP:0001256	Intellectual disability, mild
OMIM:603720	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:603720	STRC	161497	HP:0000006	Autosomal dominant inheritance
OMIM:603720	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:615547	MAGEL2	54551	HP:0000054	Micropenis
OMIM:615547	MAGEL2	54551	HP:0000194	Open mouth
OMIM:615547	MAGEL2	54551	HP:0000280	Coarse facial features
OMIM:615547	MAGEL2	54551	HP:0000135	Hypogonadism
OMIM:615547	MAGEL2	54551	HP:0000545	Myopia
OMIM:615547	MAGEL2	54551	HP:0001513	Obesity
OMIM:615547	MAGEL2	54551	HP:0000028	Cryptorchidism
OMIM:615547	MAGEL2	54551	HP:0001319	Neonatal hypotonia
OMIM:615547	MAGEL2	54551	HP:0000565	Esotropia
OMIM:615547	MAGEL2	54551	HP:0001263	Global developmental delay
OMIM:615547	MAGEL2	54551	HP:0002591	Polyphagia
OMIM:615547	MAGEL2	54551	HP:0000341	Narrow forehead
OMIM:615547	MAGEL2	54551	HP:0002019	Constipation
OMIM:615547	MAGEL2	54551	HP:0200055	Small hand
OMIM:615547	MAGEL2	54551	HP:0004283	Narrow palm
OMIM:615547	MAGEL2	54551	HP:0004322	Short stature
OMIM:615547	MAGEL2	54551	HP:0001371	Flexion contracture
OMIM:615547	MAGEL2	54551	HP:0001249	Intellectual disability
OMIM:615547	MAGEL2	54551	HP:0011968	Feeding difficulties
OMIM:615547	MAGEL2	54551	HP:0000006	Autosomal dominant inheritance
OMIM:615547	MAGEL2	54551	HP:0001531	Failure to thrive in infancy
OMIM:615547	MAGEL2	54551	HP:0003593	Infantile onset
OMIM:615547	MAGEL2	54551	HP:0010535	Sleep apnea
OMIM:128235	ATP1A3	478	HP:0000338	Hypomimic face
OMIM:128235	ATP1A3	478	HP:0002067	Bradykinesia
OMIM:128235	ATP1A3	478	HP:0001300	Parkinsonism
OMIM:128235	ATP1A3	478	HP:0001260	Dysarthria
OMIM:128235	ATP1A3	478	HP:0000712	Emotional lability
OMIM:128235	ATP1A3	478	HP:0000716	Depressivity
OMIM:128235	ATP1A3	478	HP:0002172	Postural instability
OMIM:128235	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:128235	ATP1A3	478	HP:0002015	Dysphagia
OMIM:128235	ATP1A3	478	HP:0011462	Young adult onset
OMIM:128235	ATP1A3	478	HP:0002317	Unsteady gait
OMIM:128235	ATP1A3	478	HP:0002300	Mutism
OMIM:128235	ATP1A3	478	HP:0003829	Incomplete penetrance
OMIM:128235	ATP1A3	478	HP:0000473	Torticollis
OMIM:128235	ATP1A3	478	HP:0002307	Drooling
OMIM:128235	ATP1A3	478	HP:0000739	Anxiety
OMIM:278730	ERCC2	2068	HP:0000656	Ectropion
OMIM:278730	ERCC2	2068	HP:0001251	Ataxia
OMIM:278730	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:278730	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:278730	ERCC2	2068	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278730	ERCC2	2068	HP:0000613	Photophobia
OMIM:278730	ERCC2	2068	HP:0001268	Mental deterioration
OMIM:278730	ERCC2	2068	HP:0001029	Poikiloderma
OMIM:278730	ERCC2	2068	HP:0004334	Dermal atrophy
OMIM:278730	ERCC2	2068	HP:0001266	Choreoathetosis
OMIM:278730	ERCC2	2068	HP:0001009	Telangiectasia
OMIM:278730	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:278730	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:278730	ERCC2	2068	HP:0000407	Sensorineural hearing impairment
OMIM:278730	ERCC2	2068	HP:0000252	Microcephaly
OMIM:278730	ERCC2	2068	HP:0000621	Entropion
OMIM:278730	ERCC2	2068	HP:0001257	Spasticity
OMIM:278730	ERCC2	2068	HP:0001265	Hyporeflexia
OMIM:300972	ATP6AP1	537	HP:0006579	Prolonged neonatal jaundice
OMIM:300972	ATP6AP1	537	HP:0001397	Hepatic steatosis
OMIM:300972	ATP6AP1	537	HP:0001419	X-linked recessive inheritance
OMIM:300972	ATP6AP1	537	HP:0002718	Recurrent bacterial infections
OMIM:300972	ATP6AP1	537	HP:0000540	Hypermetropia
OMIM:300972	ATP6AP1	537	HP:0004313	Decreased antibody level in blood
OMIM:300972	ATP6AP1	537	HP:0001394	Cirrhosis
OMIM:300972	ATP6AP1	537	HP:0002240	Hepatomegaly
OMIM:300972	ATP6AP1	537	HP:0000407	Sensorineural hearing impairment
OMIM:300972	ATP6AP1	537	HP:0002910	Elevated hepatic transaminases
OMIM:300972	ATP6AP1	537	HP:0001882	Leukopenia
OMIM:300972	ATP6AP1	537	HP:0001744	Splenomegaly
OMIM:300972	ATP6AP1	537	HP:0003828	Variable expressivity
OMIM:300661	PRPS1	5631	HP:0001251	Ataxia
OMIM:300661	PRPS1	5631	HP:0000791	Uric acid nephrolithiasis
OMIM:300661	PRPS1	5631	HP:0001290	Generalized hypotonia
OMIM:300661	PRPS1	5631	HP:0001270	Motor delay
OMIM:300661	PRPS1	5631	HP:0001249	Intellectual disability
OMIM:300661	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:300661	PRPS1	5631	HP:0000083	Renal insufficiency
OMIM:300661	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:300661	PRPS1	5631	HP:0001997	Gout
OMIM:300661	PRPS1	5631	HP:0003149	Hyperuricosuria
OMIM:616037	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC151	115948	HP:0004469	Chronic bronchitis
OMIM:616037	CCDC151	115948	HP:0001742	Nasal obstruction
OMIM:616037	CCDC151	115948	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:616037	CCDC151	115948	HP:0012735	Cough
OMIM:616037	CCDC151	115948	HP:0012265	Ciliary dyskinesia
OMIM:616037	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:616037	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC151	115948	HP:0100582	Nasal polyposis
OMIM:616037	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:616037	CCDC151	115948	HP:0002099	Asthma
OMIM:610445	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	RHO	6010	HP:0001123	Visual field defect
OMIM:610445	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:601321	NF1	4763	HP:0001642	Pulmonic stenosis
OMIM:601321	NF1	4763	HP:0000369	Low-set ears
OMIM:601321	NF1	4763	HP:0004322	Short stature
OMIM:601321	NF1	4763	HP:0011800	Midface retrusion
OMIM:601321	NF1	4763	HP:0000465	Webbed neck
OMIM:601321	NF1	4763	HP:0001684	Secundum atrial septal defect
OMIM:601321	NF1	4763	HP:0000508	Ptosis
OMIM:601321	NF1	4763	HP:0000256	Macrocephaly
OMIM:601321	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:601321	NF1	4763	HP:0000028	Cryptorchidism
OMIM:601321	NF1	4763	HP:0000358	Posteriorly rotated ears
OMIM:601321	NF1	4763	HP:0000750	Delayed speech and language development
OMIM:601321	NF1	4763	HP:0001067	Neurofibromas
OMIM:601321	NF1	4763	HP:0001263	Global developmental delay
OMIM:601321	NF1	4763	HP:0000286	Epicanthus
OMIM:601321	NF1	4763	HP:0000494	Downslanted palpebral fissures
OMIM:601321	NF1	4763	HP:0000316	Hypertelorism
OMIM:601321	NF1	4763	HP:0000915	Pectus excavatum of inferior sternum
OMIM:601321	NF1	4763	HP:0009734	Optic glioma
OMIM:601321	NF1	4763	HP:0030052	Inguinal freckling
OMIM:601321	NF1	4763	HP:0000272	Malar flattening
OMIM:601321	NF1	4763	HP:0005272	Prominent nasolabial fold
OMIM:601321	NF1	4763	HP:0001324	Muscle weakness
OMIM:601321	NF1	4763	HP:0000917	Superior pectus carinatum
OMIM:601321	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:601321	NF1	4763	HP:0000997	Axillary freckling
OMIM:601321	NF1	4763	HP:0000470	Short neck
OMIM:601321	NF1	4763	HP:0001328	Specific learning disability
OMIM:601321	NF1	4763	HP:0002650	Scoliosis
OMIM:601321	NF1	4763	HP:0005280	Depressed nasal bridge
OMIM:601321	NF1	4763	HP:0002162	Low posterior hairline
OMIM:601321	NF1	4763	HP:0002967	Cubitus valgus
ORPHA:475	CEP41	95681	HP:0001288	Gait disturbance
ORPHA:475	CEP41	95681	HP:0001252	Muscular hypotonia
ORPHA:475	CEP41	95681	HP:0001263	Global developmental delay
ORPHA:475	CEP41	95681	HP:0004422	Biparietal narrowing
ORPHA:475	CEP41	95681	HP:0001251	Ataxia
ORPHA:475	CEP41	95681	HP:0000276	Long face
ORPHA:475	CEP41	95681	HP:0002104	Apnea
ORPHA:475	CEP41	95681	HP:0000639	Nystagmus
ORPHA:475	CEP41	95681	HP:0001249	Intellectual disability
ORPHA:475	CEP41	95681	HP:0002876	Episodic tachypnea
ORPHA:475	CEP41	95681	HP:0008872	Feeding difficulties in infancy
ORPHA:475	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	CEP41	95681	HP:0000657	Oculomotor apraxia
ORPHA:475	C5ORF42	65250	HP:0001288	Gait disturbance
ORPHA:475	C5ORF42	65250	HP:0001252	Muscular hypotonia
ORPHA:475	C5ORF42	65250	HP:0001263	Global developmental delay
ORPHA:475	C5ORF42	65250	HP:0004422	Biparietal narrowing
ORPHA:475	C5ORF42	65250	HP:0001251	Ataxia
ORPHA:475	C5ORF42	65250	HP:0000276	Long face
ORPHA:475	C5ORF42	65250	HP:0002104	Apnea
ORPHA:475	C5ORF42	65250	HP:0000639	Nystagmus
ORPHA:475	C5ORF42	65250	HP:0001249	Intellectual disability
ORPHA:475	C5ORF42	65250	HP:0002876	Episodic tachypnea
ORPHA:475	C5ORF42	65250	HP:0008872	Feeding difficulties in infancy
ORPHA:475	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	C5ORF42	65250	HP:0000657	Oculomotor apraxia
ORPHA:475	CEP104	9731	HP:0001288	Gait disturbance
ORPHA:475	CEP104	9731	HP:0001252	Muscular hypotonia
ORPHA:475	CEP104	9731	HP:0001263	Global developmental delay
ORPHA:475	CEP104	9731	HP:0004422	Biparietal narrowing
ORPHA:475	CEP104	9731	HP:0001251	Ataxia
ORPHA:475	CEP104	9731	HP:0000276	Long face
ORPHA:475	CEP104	9731	HP:0002104	Apnea
ORPHA:475	CEP104	9731	HP:0000639	Nystagmus
ORPHA:475	CEP104	9731	HP:0001249	Intellectual disability
ORPHA:475	CEP104	9731	HP:0002876	Episodic tachypnea
ORPHA:475	CEP104	9731	HP:0008872	Feeding difficulties in infancy
ORPHA:475	CEP104	9731	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	CEP104	9731	HP:0000657	Oculomotor apraxia
ORPHA:475	B9D1	27077	HP:0001288	Gait disturbance
ORPHA:475	B9D1	27077	HP:0001252	Muscular hypotonia
ORPHA:475	B9D1	27077	HP:0001263	Global developmental delay
ORPHA:475	B9D1	27077	HP:0004422	Biparietal narrowing
ORPHA:475	B9D1	27077	HP:0001251	Ataxia
ORPHA:475	B9D1	27077	HP:0000276	Long face
ORPHA:475	B9D1	27077	HP:0002104	Apnea
ORPHA:475	B9D1	27077	HP:0000639	Nystagmus
ORPHA:475	B9D1	27077	HP:0001249	Intellectual disability
ORPHA:475	B9D1	27077	HP:0002876	Episodic tachypnea
ORPHA:475	B9D1	27077	HP:0008872	Feeding difficulties in infancy
ORPHA:475	B9D1	27077	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	B9D1	27077	HP:0000657	Oculomotor apraxia
ORPHA:475	TMEM237	65062	HP:0001288	Gait disturbance
ORPHA:475	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHA:475	TMEM237	65062	HP:0001263	Global developmental delay
ORPHA:475	TMEM237	65062	HP:0004422	Biparietal narrowing
ORPHA:475	TMEM237	65062	HP:0001251	Ataxia
ORPHA:475	TMEM237	65062	HP:0000276	Long face
ORPHA:475	TMEM237	65062	HP:0002104	Apnea
ORPHA:475	TMEM237	65062	HP:0000639	Nystagmus
ORPHA:475	TMEM237	65062	HP:0001249	Intellectual disability
ORPHA:475	TMEM237	65062	HP:0002876	Episodic tachypnea
ORPHA:475	TMEM237	65062	HP:0008872	Feeding difficulties in infancy
ORPHA:475	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	TMEM237	65062	HP:0000657	Oculomotor apraxia
ORPHA:475	HYLS1	219844	HP:0001288	Gait disturbance
ORPHA:475	HYLS1	219844	HP:0001252	Muscular hypotonia
ORPHA:475	HYLS1	219844	HP:0001263	Global developmental delay
ORPHA:475	HYLS1	219844	HP:0004422	Biparietal narrowing
ORPHA:475	HYLS1	219844	HP:0001251	Ataxia
ORPHA:475	HYLS1	219844	HP:0000276	Long face
ORPHA:475	HYLS1	219844	HP:0002104	Apnea
ORPHA:475	HYLS1	219844	HP:0000639	Nystagmus
ORPHA:475	HYLS1	219844	HP:0001249	Intellectual disability
ORPHA:475	HYLS1	219844	HP:0002876	Episodic tachypnea
ORPHA:475	HYLS1	219844	HP:0008872	Feeding difficulties in infancy
ORPHA:475	HYLS1	219844	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	HYLS1	219844	HP:0000657	Oculomotor apraxia
ORPHA:475	CSPP1	79848	HP:0001288	Gait disturbance
ORPHA:475	CSPP1	79848	HP:0001252	Muscular hypotonia
ORPHA:475	CSPP1	79848	HP:0001263	Global developmental delay
ORPHA:475	CSPP1	79848	HP:0004422	Biparietal narrowing
ORPHA:475	CSPP1	79848	HP:0001251	Ataxia
ORPHA:475	CSPP1	79848	HP:0000276	Long face
ORPHA:475	CSPP1	79848	HP:0002104	Apnea
ORPHA:475	CSPP1	79848	HP:0000639	Nystagmus
ORPHA:475	CSPP1	79848	HP:0001249	Intellectual disability
ORPHA:475	CSPP1	79848	HP:0002876	Episodic tachypnea
ORPHA:475	CSPP1	79848	HP:0008872	Feeding difficulties in infancy
ORPHA:475	CSPP1	79848	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	CSPP1	79848	HP:0000657	Oculomotor apraxia
ORPHA:475	TMEM67	91147	HP:0001288	Gait disturbance
ORPHA:475	TMEM67	91147	HP:0001252	Muscular hypotonia
ORPHA:475	TMEM67	91147	HP:0001263	Global developmental delay
ORPHA:475	TMEM67	91147	HP:0004422	Biparietal narrowing
ORPHA:475	TMEM67	91147	HP:0001251	Ataxia
ORPHA:475	TMEM67	91147	HP:0000276	Long face
ORPHA:475	TMEM67	91147	HP:0002104	Apnea
ORPHA:475	TMEM67	91147	HP:0000639	Nystagmus
ORPHA:475	TMEM67	91147	HP:0001249	Intellectual disability
ORPHA:475	TMEM67	91147	HP:0002876	Episodic tachypnea
ORPHA:475	TMEM67	91147	HP:0008872	Feeding difficulties in infancy
ORPHA:475	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	TMEM67	91147	HP:0000657	Oculomotor apraxia
ORPHA:475	INPP5E	56623	HP:0001288	Gait disturbance
ORPHA:475	INPP5E	56623	HP:0001252	Muscular hypotonia
ORPHA:475	INPP5E	56623	HP:0001263	Global developmental delay
ORPHA:475	INPP5E	56623	HP:0004422	Biparietal narrowing
ORPHA:475	INPP5E	56623	HP:0001251	Ataxia
ORPHA:475	INPP5E	56623	HP:0000276	Long face
ORPHA:475	INPP5E	56623	HP:0002104	Apnea
ORPHA:475	INPP5E	56623	HP:0000639	Nystagmus
ORPHA:475	INPP5E	56623	HP:0001249	Intellectual disability
ORPHA:475	INPP5E	56623	HP:0002876	Episodic tachypnea
ORPHA:475	INPP5E	56623	HP:0008872	Feeding difficulties in infancy
ORPHA:475	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	INPP5E	56623	HP:0000657	Oculomotor apraxia
ORPHA:475	KIAA0556	23247	HP:0001288	Gait disturbance
ORPHA:475	KIAA0556	23247	HP:0001252	Muscular hypotonia
ORPHA:475	KIAA0556	23247	HP:0001263	Global developmental delay
ORPHA:475	KIAA0556	23247	HP:0004422	Biparietal narrowing
ORPHA:475	KIAA0556	23247	HP:0001251	Ataxia
ORPHA:475	KIAA0556	23247	HP:0000276	Long face
ORPHA:475	KIAA0556	23247	HP:0002104	Apnea
ORPHA:475	KIAA0556	23247	HP:0000639	Nystagmus
ORPHA:475	KIAA0556	23247	HP:0001249	Intellectual disability
ORPHA:475	KIAA0556	23247	HP:0002876	Episodic tachypnea
ORPHA:475	KIAA0556	23247	HP:0008872	Feeding difficulties in infancy
ORPHA:475	KIAA0556	23247	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	KIAA0556	23247	HP:0000657	Oculomotor apraxia
ORPHA:475	TCTN1	79600	HP:0001288	Gait disturbance
ORPHA:475	TCTN1	79600	HP:0001252	Muscular hypotonia
ORPHA:475	TCTN1	79600	HP:0001263	Global developmental delay
ORPHA:475	TCTN1	79600	HP:0004422	Biparietal narrowing
ORPHA:475	TCTN1	79600	HP:0001251	Ataxia
ORPHA:475	TCTN1	79600	HP:0000276	Long face
ORPHA:475	TCTN1	79600	HP:0002104	Apnea
ORPHA:475	TCTN1	79600	HP:0000639	Nystagmus
ORPHA:475	TCTN1	79600	HP:0001249	Intellectual disability
ORPHA:475	TCTN1	79600	HP:0002876	Episodic tachypnea
ORPHA:475	TCTN1	79600	HP:0008872	Feeding difficulties in infancy
ORPHA:475	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	TCTN1	79600	HP:0000657	Oculomotor apraxia
ORPHA:475	ARMC9	80210	HP:0001288	Gait disturbance
ORPHA:475	ARMC9	80210	HP:0001252	Muscular hypotonia
ORPHA:475	ARMC9	80210	HP:0001263	Global developmental delay
ORPHA:475	ARMC9	80210	HP:0004422	Biparietal narrowing
ORPHA:475	ARMC9	80210	HP:0001251	Ataxia
ORPHA:475	ARMC9	80210	HP:0000276	Long face
ORPHA:475	ARMC9	80210	HP:0002104	Apnea
ORPHA:475	ARMC9	80210	HP:0000639	Nystagmus
ORPHA:475	ARMC9	80210	HP:0001249	Intellectual disability
ORPHA:475	ARMC9	80210	HP:0002876	Episodic tachypnea
ORPHA:475	ARMC9	80210	HP:0008872	Feeding difficulties in infancy
ORPHA:475	ARMC9	80210	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	ARMC9	80210	HP:0000657	Oculomotor apraxia
ORPHA:475	AHI1	54806	HP:0001288	Gait disturbance
ORPHA:475	AHI1	54806	HP:0001252	Muscular hypotonia
ORPHA:475	AHI1	54806	HP:0001263	Global developmental delay
ORPHA:475	AHI1	54806	HP:0004422	Biparietal narrowing
ORPHA:475	AHI1	54806	HP:0001251	Ataxia
ORPHA:475	AHI1	54806	HP:0000276	Long face
ORPHA:475	AHI1	54806	HP:0002104	Apnea
ORPHA:475	AHI1	54806	HP:0000639	Nystagmus
ORPHA:475	AHI1	54806	HP:0001249	Intellectual disability
ORPHA:475	AHI1	54806	HP:0002876	Episodic tachypnea
ORPHA:475	AHI1	54806	HP:0008872	Feeding difficulties in infancy
ORPHA:475	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	AHI1	54806	HP:0000657	Oculomotor apraxia
ORPHA:475	MKS1	54903	HP:0001288	Gait disturbance
ORPHA:475	MKS1	54903	HP:0001252	Muscular hypotonia
ORPHA:475	MKS1	54903	HP:0001263	Global developmental delay
ORPHA:475	MKS1	54903	HP:0004422	Biparietal narrowing
ORPHA:475	MKS1	54903	HP:0001251	Ataxia
ORPHA:475	MKS1	54903	HP:0000276	Long face
ORPHA:475	MKS1	54903	HP:0002104	Apnea
ORPHA:475	MKS1	54903	HP:0000639	Nystagmus
ORPHA:475	MKS1	54903	HP:0001249	Intellectual disability
ORPHA:475	MKS1	54903	HP:0002876	Episodic tachypnea
ORPHA:475	MKS1	54903	HP:0008872	Feeding difficulties in infancy
ORPHA:475	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	MKS1	54903	HP:0000657	Oculomotor apraxia
ORPHA:475	TCTN2	79867	HP:0001288	Gait disturbance
ORPHA:475	TCTN2	79867	HP:0001252	Muscular hypotonia
ORPHA:475	TCTN2	79867	HP:0001263	Global developmental delay
ORPHA:475	TCTN2	79867	HP:0004422	Biparietal narrowing
ORPHA:475	TCTN2	79867	HP:0001251	Ataxia
ORPHA:475	TCTN2	79867	HP:0000276	Long face
ORPHA:475	TCTN2	79867	HP:0002104	Apnea
ORPHA:475	TCTN2	79867	HP:0000639	Nystagmus
ORPHA:475	TCTN2	79867	HP:0001249	Intellectual disability
ORPHA:475	TCTN2	79867	HP:0002876	Episodic tachypnea
ORPHA:475	TCTN2	79867	HP:0008872	Feeding difficulties in infancy
ORPHA:475	TCTN2	79867	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	TCTN2	79867	HP:0000657	Oculomotor apraxia
ORPHA:475	KIAA0586	9786	HP:0001288	Gait disturbance
ORPHA:475	KIAA0586	9786	HP:0001252	Muscular hypotonia
ORPHA:475	KIAA0586	9786	HP:0001263	Global developmental delay
ORPHA:475	KIAA0586	9786	HP:0004422	Biparietal narrowing
ORPHA:475	KIAA0586	9786	HP:0001251	Ataxia
ORPHA:475	KIAA0586	9786	HP:0000276	Long face
ORPHA:475	KIAA0586	9786	HP:0002104	Apnea
ORPHA:475	KIAA0586	9786	HP:0000639	Nystagmus
ORPHA:475	KIAA0586	9786	HP:0001249	Intellectual disability
ORPHA:475	KIAA0586	9786	HP:0002876	Episodic tachypnea
ORPHA:475	KIAA0586	9786	HP:0008872	Feeding difficulties in infancy
ORPHA:475	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	KIAA0586	9786	HP:0000657	Oculomotor apraxia
ORPHA:475	CEP120	153241	HP:0001288	Gait disturbance
ORPHA:475	CEP120	153241	HP:0001252	Muscular hypotonia
ORPHA:475	CEP120	153241	HP:0001263	Global developmental delay
ORPHA:475	CEP120	153241	HP:0004422	Biparietal narrowing
ORPHA:475	CEP120	153241	HP:0001251	Ataxia
ORPHA:475	CEP120	153241	HP:0000276	Long face
ORPHA:475	CEP120	153241	HP:0002104	Apnea
ORPHA:475	CEP120	153241	HP:0000639	Nystagmus
ORPHA:475	CEP120	153241	HP:0001249	Intellectual disability
ORPHA:475	CEP120	153241	HP:0002876	Episodic tachypnea
ORPHA:475	CEP120	153241	HP:0008872	Feeding difficulties in infancy
ORPHA:475	CEP120	153241	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	CEP120	153241	HP:0000657	Oculomotor apraxia
ORPHA:475	ARL13B	200894	HP:0001288	Gait disturbance
ORPHA:475	ARL13B	200894	HP:0001252	Muscular hypotonia
ORPHA:475	ARL13B	200894	HP:0001263	Global developmental delay
ORPHA:475	ARL13B	200894	HP:0004422	Biparietal narrowing
ORPHA:475	ARL13B	200894	HP:0001251	Ataxia
ORPHA:475	ARL13B	200894	HP:0000276	Long face
ORPHA:475	ARL13B	200894	HP:0002104	Apnea
ORPHA:475	ARL13B	200894	HP:0000639	Nystagmus
ORPHA:475	ARL13B	200894	HP:0001249	Intellectual disability
ORPHA:475	ARL13B	200894	HP:0002876	Episodic tachypnea
ORPHA:475	ARL13B	200894	HP:0008872	Feeding difficulties in infancy
ORPHA:475	ARL13B	200894	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:616145	TGDS	23483	HP:0000347	Micrognathia
OMIM:616145	TGDS	23483	HP:0001250	Seizures
OMIM:616145	TGDS	23483	HP:0008897	Postnatal growth retardation
OMIM:616145	TGDS	23483	HP:0001629	Ventricular septal defect
OMIM:616145	TGDS	23483	HP:0001537	Umbilical hernia
OMIM:616145	TGDS	23483	HP:0030368	Hyperphalangy of the 2nd finger
OMIM:616145	TGDS	23483	HP:0001373	Joint dislocation
OMIM:616145	TGDS	23483	HP:0001511	Intrauterine growth retardation
OMIM:616145	TGDS	23483	HP:0000023	Inguinal hernia
OMIM:616145	TGDS	23483	HP:0000369	Low-set ears
OMIM:616145	TGDS	23483	HP:0000476	Cystic hygroma
OMIM:616145	TGDS	23483	HP:0000028	Cryptorchidism
OMIM:616145	TGDS	23483	HP:0000162	Glossoptosis
OMIM:616145	TGDS	23483	HP:0012385	Camptodactyly
OMIM:616145	TGDS	23483	HP:0000768	Pectus carinatum
OMIM:616145	TGDS	23483	HP:0000175	Cleft palate
OMIM:616145	TGDS	23483	HP:0000470	Short neck
OMIM:616145	TGDS	23483	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:616145	TGDS	23483	HP:0001263	Global developmental delay
OMIM:616145	TGDS	23483	HP:0000007	Autosomal recessive inheritance
OMIM:616145	TGDS	23483	HP:0000954	Single transverse palmar crease
OMIM:616145	TGDS	23483	HP:0001388	Joint laxity
OMIM:616145	TGDS	23483	HP:0004209	Clinodactyly of the 5th finger
OMIM:616145	TGDS	23483	HP:0001651	Dextrocardia
OMIM:616145	TGDS	23483	HP:0000767	Pectus excavatum
OMIM:616145	TGDS	23483	HP:0000204	Cleft upper lip
OMIM:616145	TGDS	23483	HP:0001680	Coarctation of aorta
OMIM:616145	TGDS	23483	HP:0000218	High palate
OMIM:616145	TGDS	23483	HP:0000377	Abnormality of the pinna
OMIM:616145	TGDS	23483	HP:0001762	Talipes equinovarus
OMIM:616145	TGDS	23483	HP:0002623	Overriding aorta
OMIM:256030	NEB	4703	HP:0001547	Abnormality of the rib cage
OMIM:256030	NEB	4703	HP:0001265	Hyporeflexia
OMIM:256030	NEB	4703	HP:0002515	Waddling gait
OMIM:256030	NEB	4703	HP:0003803	Type 1 muscle fiber predominance
OMIM:256030	NEB	4703	HP:0010628	Facial palsy
OMIM:256030	NEB	4703	HP:0003690	Limb muscle weakness
OMIM:256030	NEB	4703	HP:0001270	Motor delay
OMIM:256030	NEB	4703	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:256030	NEB	4703	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:256030	NEB	4703	HP:0003306	Spinal rigidity
OMIM:256030	NEB	4703	HP:0003722	Neck flexor weakness
OMIM:256030	NEB	4703	HP:0001561	Polyhydramnios
OMIM:256030	NEB	4703	HP:0003445	EMG: neuropathic changes
OMIM:256030	NEB	4703	HP:0002359	Frequent falls
OMIM:256030	NEB	4703	HP:0003324	Generalized muscle weakness
OMIM:256030	NEB	4703	HP:0002104	Apnea
OMIM:256030	NEB	4703	HP:0003810	Late-onset distal muscle weakness
OMIM:256030	NEB	4703	HP:0000007	Autosomal recessive inheritance
OMIM:256030	NEB	4703	HP:0001425	Heterogeneous
OMIM:256030	NEB	4703	HP:0002650	Scoliosis
OMIM:256030	NEB	4703	HP:0001319	Neonatal hypotonia
OMIM:256030	NEB	4703	HP:0002058	Myopathic facies
OMIM:256030	NEB	4703	HP:0001284	Areflexia
OMIM:256030	NEB	4703	HP:0003593	Infantile onset
OMIM:256030	NEB	4703	HP:0003307	Hyperlordosis
OMIM:256030	NEB	4703	HP:0000175	Cleft palate
OMIM:256030	NEB	4703	HP:0003458	EMG: myopathic abnormalities
OMIM:256030	NEB	4703	HP:0002015	Dysphagia
OMIM:256030	NEB	4703	HP:0002803	Congenital contracture
OMIM:256030	NEB	4703	HP:0002804	Arthrogryposis multiplex congenita
OMIM:256030	NEB	4703	HP:0001283	Bulbar palsy
OMIM:256030	NEB	4703	HP:0001533	Slender build
OMIM:256030	NEB	4703	HP:0000369	Low-set ears
OMIM:256030	NEB	4703	HP:0011968	Feeding difficulties
OMIM:256030	NEB	4703	HP:0000218	High palate
OMIM:256030	NEB	4703	HP:0003701	Proximal muscle weakness
OMIM:256030	NEB	4703	HP:0001558	Decreased fetal movement
OMIM:256030	NEB	4703	HP:0003798	Nemaline bodies
OMIM:256030	NEB	4703	HP:0000478	Abnormality of the eye
OMIM:601088	MAF	4094	HP:0011800	Midface retrusion
OMIM:601088	MAF	4094	HP:0000519	Congenital cataract
OMIM:601088	MAF	4094	HP:0000343	Long philtrum
OMIM:601088	MAF	4094	HP:0000508	Ptosis
OMIM:601088	MAF	4094	HP:0001250	Seizures
OMIM:601088	MAF	4094	HP:0005280	Depressed nasal bridge
OMIM:601088	MAF	4094	HP:0000289	Broad philtrum
OMIM:601088	MAF	4094	HP:0000160	Narrow mouth
OMIM:601088	MAF	4094	HP:0003196	Short nose
OMIM:601088	MAF	4094	HP:0000219	Thin upper lip vermilion
OMIM:601088	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:601088	MAF	4094	HP:0000248	Brachycephaly
OMIM:601088	MAF	4094	HP:0000319	Smooth philtrum
OMIM:601088	MAF	4094	HP:0000407	Sensorineural hearing impairment
OMIM:601088	MAF	4094	HP:0002974	Radioulnar synostosis
OMIM:601088	MAF	4094	HP:0012368	Flat face
OMIM:601088	MAF	4094	HP:0000316	Hypertelorism
OMIM:601088	MAF	4094	HP:0001249	Intellectual disability
OMIM:601088	MAF	4094	HP:0000369	Low-set ears
OMIM:601088	MAF	4094	HP:0000431	Wide nasal bridge
OMIM:601088	MAF	4094	HP:0000272	Malar flattening
OMIM:601088	MAF	4094	HP:0000348	High forehead
OMIM:601088	MAF	4094	HP:0004322	Short stature
OMIM:601088	MAF	4094	HP:0011229	Broad eyebrow
OMIM:615751	CA5A	763	HP:0002151	Increased serum lactate
OMIM:615751	CA5A	763	HP:0001254	Lethargy
OMIM:615751	CA5A	763	HP:0001950	Respiratory alkalosis
OMIM:615751	CA5A	763	HP:0002789	Tachypnea
OMIM:615751	CA5A	763	HP:0003128	Lactic acidosis
OMIM:615751	CA5A	763	HP:0001942	Metabolic acidosis
OMIM:615751	CA5A	763	HP:0001943	Hypoglycemia
OMIM:615751	CA5A	763	HP:0002919	Ketonuria
OMIM:615751	CA5A	763	HP:0003828	Variable expressivity
OMIM:615751	CA5A	763	HP:0001993	Ketoacidosis
OMIM:615751	CA5A	763	HP:0000007	Autosomal recessive inheritance
OMIM:615751	CA5A	763	HP:0003348	Hyperalaninemia
OMIM:615751	CA5A	763	HP:0001987	Hyperammonemia
OMIM:614200	ITGA2	3673	HP:0000006	Autosomal dominant inheritance
OMIM:614200	ITGA2	3673	HP:0001873	Thrombocytopenia
OMIM:614200	ITGA2	3673	HP:0003577	Congenital onset
OMIM:614200	ITGA2	3673	HP:0000978	Bruising susceptibility
OMIM:607095	RMRP	6023	HP:0000668	Hypodontia
OMIM:607095	RMRP	6023	HP:0003308	Cervical subluxation
OMIM:607095	RMRP	6023	HP:0009381	Short finger
OMIM:607095	RMRP	6023	HP:0010585	Small epiphyses
OMIM:607095	RMRP	6023	HP:0001831	Short toe
OMIM:607095	RMRP	6023	HP:0001156	Brachydactyly
OMIM:607095	RMRP	6023	HP:0001216	Delayed ossification of carpal bones
OMIM:607095	RMRP	6023	HP:0000926	Platyspondyly
OMIM:607095	RMRP	6023	HP:0003015	Flared metaphysis
OMIM:607095	RMRP	6023	HP:0001249	Intellectual disability
OMIM:607095	RMRP	6023	HP:0008905	Rhizomelia
OMIM:607095	RMRP	6023	HP:0000316	Hypertelorism
OMIM:607095	RMRP	6023	HP:0000470	Short neck
OMIM:607095	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:607095	RMRP	6023	HP:0002680	J-shaped sella turcica
OMIM:607095	RMRP	6023	HP:0000946	Hypoplastic ilia
OMIM:607095	RMRP	6023	HP:0002341	Cervical cord compression
OMIM:616689	KCNN4	3783	HP:0000006	Autosomal dominant inheritance
OMIM:616689	KCNN4	3783	HP:0002904	Hyperbilirubinemia
OMIM:616689	KCNN4	3783	HP:0001927	Acanthocytosis
OMIM:616689	KCNN4	3783	HP:0001923	Reticulocytosis
OMIM:616689	KCNN4	3783	HP:0004823	Anisopoikilocytosis
OMIM:616689	KCNN4	3783	HP:0005518	Increased mean corpuscular volume
OMIM:616689	KCNN4	3783	HP:0001744	Splenomegaly
OMIM:616689	KCNN4	3783	HP:0001878	Hemolytic anemia
OMIM:616689	KCNN4	3783	HP:0002240	Hepatomegaly
OMIM:616689	KCNN4	3783	HP:0000952	Jaundice
OMIM:614920	PEX11B	8799	HP:0000519	Congenital cataract
OMIM:614920	PEX11B	8799	HP:0000034	Hydrocele testis
OMIM:614920	PEX11B	8799	HP:0002076	Migraine
OMIM:614920	PEX11B	8799	HP:0000958	Dry skin
OMIM:614920	PEX11B	8799	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX11B	8799	HP:0001271	Polyneuropathy
OMIM:614920	PEX11B	8799	HP:0001324	Muscle weakness
OMIM:614920	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX11B	8799	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX11B	8799	HP:0001284	Areflexia
OMIM:614920	PEX11B	8799	HP:0000020	Urinary incontinence
OMIM:614920	PEX11B	8799	HP:0000639	Nystagmus
OMIM:303800	OPN1MW	2652	HP:0011520	Deuteranomaly
OMIM:303800	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:613080	CBX2	84733	HP:0000007	Autosomal recessive inheritance
OMIM:613080	CBX2	84733	HP:0012245	Sex reversal
OMIM:613080	CBX2	84733	HP:0000006	Autosomal dominant inheritance
OMIM:613080	CBX2	84733	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:605387	CHMP4B	128866	HP:0100018	Nuclear cataract
OMIM:605387	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:605387	CHMP4B	128866	HP:0007787	Posterior subcapsular cataract
OMIM:605387	CHMP4B	128866	HP:0010923	Anterior subcapsular cataract
OMIM:613743	CYP11A1	1583	HP:0000859	Hyperaldosteronism
OMIM:613743	CYP11A1	1583	HP:0000127	Renal salt wasting
OMIM:613743	CYP11A1	1583	HP:0011749	Adrenocorticotropic hormone excess
OMIM:613743	CYP11A1	1583	HP:0000846	Adrenal insufficiency
OMIM:613743	CYP11A1	1583	HP:0000953	Hyperpigmentation of the skin
OMIM:613743	CYP11A1	1583	HP:0012245	Sex reversal
OMIM:610915	P3H1	64175	HP:0001388	Joint laxity
OMIM:610915	P3H1	64175	HP:0002982	Tibial bowing
OMIM:610915	P3H1	64175	HP:0003100	Slender long bone
OMIM:610915	P3H1	64175	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	P3H1	64175	HP:0000023	Inguinal hernia
OMIM:610915	P3H1	64175	HP:0000926	Platyspondyly
OMIM:610915	P3H1	64175	HP:0002650	Scoliosis
OMIM:610915	P3H1	64175	HP:0002808	Kyphosis
OMIM:610915	P3H1	64175	HP:0000260	Wide anterior fontanel
OMIM:610915	P3H1	64175	HP:0000938	Osteopenia
OMIM:610915	P3H1	64175	HP:0005855	Multiple prenatal fractures
OMIM:610915	P3H1	64175	HP:0000270	Delayed cranial suture closure
OMIM:610915	P3H1	64175	HP:0002645	Wormian bones
OMIM:610915	P3H1	64175	HP:0000311	Round face
OMIM:610915	P3H1	64175	HP:0000520	Proptosis
OMIM:610915	P3H1	64175	HP:0001263	Global developmental delay
OMIM:610915	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:610915	P3H1	64175	HP:0002953	Vertebral compression fractures
OMIM:610915	P3H1	64175	HP:0003784	Type 1 collagen overmodification
OMIM:610915	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:610915	P3H1	64175	HP:0004331	Decreased skull ossification
OMIM:610915	P3H1	64175	HP:0001552	Barrel-shaped chest
OMIM:610915	P3H1	64175	HP:0002980	Femoral bowing
OMIM:610915	P3H1	64175	HP:0000883	Thin ribs
OMIM:610915	P3H1	64175	HP:0010049	Short metacarpal
OMIM:610915	P3H1	64175	HP:0002986	Radial bowing
OMIM:610915	P3H1	64175	HP:0003783	Externally rotated/abducted legs
OMIM:615314	TCF12	6938	HP:0001363	Craniosynostosis
OMIM:615314	TCF12	6938	HP:0000006	Autosomal dominant inheritance
OMIM:612651	ICK	22858	HP:0030260	Microphallus
OMIM:612651	ICK	22858	HP:0000204	Cleft upper lip
OMIM:612651	ICK	22858	HP:0000431	Wide nasal bridge
OMIM:612651	ICK	22858	HP:0000835	Adrenal hypoplasia
OMIM:612651	ICK	22858	HP:0000062	Ambiguous genitalia
OMIM:612651	ICK	22858	HP:0009487	Ulnar deviation of the hand
OMIM:612651	ICK	22858	HP:0000028	Cryptorchidism
OMIM:612651	ICK	22858	HP:0001552	Barrel-shaped chest
OMIM:612651	ICK	22858	HP:0006610	Wide intermamillary distance
OMIM:612651	ICK	22858	HP:0002119	Ventriculomegaly
OMIM:612651	ICK	22858	HP:0000914	Shield chest
OMIM:612651	ICK	22858	HP:0001852	Sandal gap
OMIM:612651	ICK	22858	HP:0000347	Micrognathia
OMIM:612651	ICK	22858	HP:0001156	Brachydactyly
OMIM:612651	ICK	22858	HP:0001360	Holoprosencephaly
OMIM:612651	ICK	22858	HP:0000047	Hypospadias
OMIM:612651	ICK	22858	HP:0000437	Depressed nasal tip
OMIM:612651	ICK	22858	HP:0000272	Malar flattening
OMIM:612651	ICK	22858	HP:0011800	Midface retrusion
OMIM:612651	ICK	22858	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:612651	ICK	22858	HP:0000007	Autosomal recessive inheritance
OMIM:612651	ICK	22858	HP:0001159	Syndactyly
OMIM:612651	ICK	22858	HP:0000175	Cleft palate
OMIM:612651	ICK	22858	HP:0000377	Abnormality of the pinna
OMIM:612651	ICK	22858	HP:0100259	Postaxial polydactyly
OMIM:612651	ICK	22858	HP:0000046	Scrotal hypoplasia
OMIM:612651	ICK	22858	HP:0000054	Micropenis
OMIM:612651	ICK	22858	HP:0000238	Hydrocephalus
OMIM:612651	ICK	22858	HP:0000369	Low-set ears
OMIM:612651	ICK	22858	HP:0002983	Micromelia
OMIM:137920	HNF1B	6928	HP:0002120	Cerebral cortical atrophy
OMIM:137920	HNF1B	6928	HP:0000833	Glucose intolerance
OMIM:137920	HNF1B	6928	HP:0001997	Gout
OMIM:137920	HNF1B	6928	HP:0001080	Biliary tract abnormality
OMIM:137920	HNF1B	6928	HP:0002910	Elevated hepatic transaminases
OMIM:137920	HNF1B	6928	HP:0003674	Onset
OMIM:137920	HNF1B	6928	HP:0000093	Proteinuria
OMIM:137920	HNF1B	6928	HP:0000047	Hypospadias
OMIM:137920	HNF1B	6928	HP:0012207	Reduced sperm motility
OMIM:137920	HNF1B	6928	HP:0003259	Elevated serum creatinine
OMIM:137920	HNF1B	6928	HP:0003812	Phenotypic variability
OMIM:137920	HNF1B	6928	HP:0005563	Decreased numbers of nephrons
OMIM:137920	HNF1B	6928	HP:0003774	Stage 5 chronic kidney disease
OMIM:137920	HNF1B	6928	HP:0030424	Epididymal cyst
OMIM:137920	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:137920	HNF1B	6928	HP:0000074	Ureteropelvic junction obstruction
OMIM:137920	HNF1B	6928	HP:0003076	Glycosuria
OMIM:137920	HNF1B	6928	HP:0000787	Nephrolithiasis
OMIM:137920	HNF1B	6928	HP:0030997	Atretic vas deferens
ORPHA:1620	CHL1	10752	HP:0000175	Cleft palate
ORPHA:1620	CHL1	10752	HP:0001252	Muscular hypotonia
ORPHA:1620	CHL1	10752	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1620	CHL1	10752	HP:0000365	Hearing impairment
ORPHA:1620	CHL1	10752	HP:0001511	Intrauterine growth retardation
ORPHA:1620	CHL1	10752	HP:0002714	Downturned corners of mouth
ORPHA:1620	CHL1	10752	HP:0000343	Long philtrum
ORPHA:1620	CHL1	10752	HP:0000506	Telecanthus
ORPHA:1620	CHL1	10752	HP:0000252	Microcephaly
ORPHA:1620	CHL1	10752	HP:0000218	High palate
ORPHA:1620	CHL1	10752	HP:0004322	Short stature
ORPHA:1620	CHL1	10752	HP:0000028	Cryptorchidism
ORPHA:1620	CHL1	10752	HP:0006695	Atrioventricular canal defect
ORPHA:1620	CHL1	10752	HP:0000248	Brachycephaly
ORPHA:1620	CHL1	10752	HP:0000316	Hypertelorism
ORPHA:1620	CHL1	10752	HP:0000347	Micrognathia
ORPHA:1620	CHL1	10752	HP:0100543	Cognitive impairment
ORPHA:1620	CHL1	10752	HP:0000508	Ptosis
ORPHA:1620	CHL1	10752	HP:0001162	Postaxial hand polydactyly
ORPHA:1620	CHL1	10752	HP:0000286	Epicanthus
ORPHA:1620	CRBN	51185	HP:0000175	Cleft palate
ORPHA:1620	CRBN	51185	HP:0001252	Muscular hypotonia
ORPHA:1620	CRBN	51185	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1620	CRBN	51185	HP:0000365	Hearing impairment
ORPHA:1620	CRBN	51185	HP:0001511	Intrauterine growth retardation
ORPHA:1620	CRBN	51185	HP:0002714	Downturned corners of mouth
ORPHA:1620	CRBN	51185	HP:0000343	Long philtrum
ORPHA:1620	CRBN	51185	HP:0000506	Telecanthus
ORPHA:1620	CRBN	51185	HP:0000252	Microcephaly
ORPHA:1620	CRBN	51185	HP:0000218	High palate
ORPHA:1620	CRBN	51185	HP:0004322	Short stature
ORPHA:1620	CRBN	51185	HP:0000028	Cryptorchidism
ORPHA:1620	CRBN	51185	HP:0006695	Atrioventricular canal defect
ORPHA:1620	CRBN	51185	HP:0000248	Brachycephaly
ORPHA:1620	CRBN	51185	HP:0000316	Hypertelorism
ORPHA:1620	CRBN	51185	HP:0000347	Micrognathia
ORPHA:1620	CRBN	51185	HP:0100543	Cognitive impairment
ORPHA:1620	CRBN	51185	HP:0000508	Ptosis
ORPHA:1620	CRBN	51185	HP:0001162	Postaxial hand polydactyly
ORPHA:1620	CRBN	51185	HP:0000286	Epicanthus
ORPHA:1620	CNTN4	152330	HP:0000175	Cleft palate
ORPHA:1620	CNTN4	152330	HP:0001252	Muscular hypotonia
ORPHA:1620	CNTN4	152330	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1620	CNTN4	152330	HP:0000365	Hearing impairment
ORPHA:1620	CNTN4	152330	HP:0001511	Intrauterine growth retardation
ORPHA:1620	CNTN4	152330	HP:0002714	Downturned corners of mouth
ORPHA:1620	CNTN4	152330	HP:0000343	Long philtrum
ORPHA:1620	CNTN4	152330	HP:0000506	Telecanthus
ORPHA:1620	CNTN4	152330	HP:0000252	Microcephaly
ORPHA:1620	CNTN4	152330	HP:0000218	High palate
ORPHA:1620	CNTN4	152330	HP:0004322	Short stature
ORPHA:1620	CNTN4	152330	HP:0000028	Cryptorchidism
ORPHA:1620	CNTN4	152330	HP:0006695	Atrioventricular canal defect
ORPHA:1620	CNTN4	152330	HP:0000248	Brachycephaly
ORPHA:1620	CNTN4	152330	HP:0000316	Hypertelorism
ORPHA:1620	CNTN4	152330	HP:0000347	Micrognathia
ORPHA:1620	CNTN4	152330	HP:0100543	Cognitive impairment
ORPHA:1620	CNTN4	152330	HP:0000508	Ptosis
ORPHA:1620	CNTN4	152330	HP:0001162	Postaxial hand polydactyly
ORPHA:1620	CNTN4	152330	HP:0000286	Epicanthus
OMIM:106600	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:106600	MSX1	4487	HP:0000668	Hypodontia
ORPHA:1513	SOST	50964	HP:0000402	Stenosis of the external auditory canal
ORPHA:1513	SOST	50964	HP:0004493	Craniofacial hyperostosis
ORPHA:1513	SOST	50964	HP:0000280	Coarse facial features
ORPHA:1513	SOST	50964	HP:0000256	Macrocephaly
ORPHA:1513	SOST	50964	HP:0004322	Short stature
ORPHA:1513	SOST	50964	HP:0001249	Intellectual disability
ORPHA:1513	SOST	50964	HP:0000772	Abnormality of the ribs
ORPHA:1513	SOST	50964	HP:0002007	Frontal bossing
ORPHA:1513	SOST	50964	HP:0005019	Diaphyseal thickening
ORPHA:1513	SOST	50964	HP:0000405	Conductive hearing impairment
ORPHA:1513	SOST	50964	HP:0000431	Wide nasal bridge
ORPHA:1513	SOST	50964	HP:0005280	Depressed nasal bridge
OMIM:613958	DPY19L2	283417	HP:0012205	Globozoospermia
OMIM:613958	DPY19L2	283417	HP:0000007	Autosomal recessive inheritance
OMIM:613856	GNAT2	2780	HP:0000613	Photophobia
OMIM:613856	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:613856	GNAT2	2780	HP:0000505	Visual impairment
OMIM:613856	GNAT2	2780	HP:0000639	Nystagmus
OMIM:613856	GNAT2	2780	HP:0011516	Achromatopsia
OMIM:131800	KRT14	3861	HP:0007446	Palmoplantar blistering
OMIM:131800	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131800	ITGB4	3691	HP:0007446	Palmoplantar blistering
OMIM:131800	ITGB4	3691	HP:0000006	Autosomal dominant inheritance
OMIM:131800	KRT5	3852	HP:0007446	Palmoplantar blistering
OMIM:131800	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:615643	COASY	80347	HP:0001265	Hyporeflexia
OMIM:615643	COASY	80347	HP:0001268	Mental deterioration
OMIM:615643	COASY	80347	HP:0003676	Progressive
OMIM:615643	COASY	80347	HP:0001260	Dysarthria
OMIM:615643	COASY	80347	HP:0002510	Spastic tetraplegia
OMIM:615643	COASY	80347	HP:0002313	Spastic paraparesis
OMIM:615643	COASY	80347	HP:0002063	Rigidity
OMIM:615643	COASY	80347	HP:0002067	Bradykinesia
OMIM:615643	COASY	80347	HP:0000716	Depressivity
OMIM:615643	COASY	80347	HP:0002180	Neurodegeneration
OMIM:615643	COASY	80347	HP:0007002	Motor axonal neuropathy
OMIM:615643	COASY	80347	HP:0012048	Oromandibular dystonia
OMIM:615643	COASY	80347	HP:0000722	Obsessive-compulsive behavior
OMIM:615643	COASY	80347	HP:0003693	Distal amyotrophy
OMIM:615643	COASY	80347	HP:0000007	Autosomal recessive inheritance
OMIM:615643	COASY	80347	HP:0040083	Toe walking
OMIM:615643	COASY	80347	HP:0002376	Developmental regression
OMIM:614415	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:614415	SAMHD1	25939	HP:0000992	Cutaneous photosensitivity
ORPHA:3103	ESCO2	157570	HP:0008070	Sparse hair
ORPHA:3103	ESCO2	157570	HP:0000520	Proptosis
ORPHA:3103	ESCO2	157570	HP:0008665	Clitoral hypertrophy
ORPHA:3103	ESCO2	157570	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3103	ESCO2	157570	HP:0001263	Global developmental delay
ORPHA:3103	ESCO2	157570	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:3103	ESCO2	157570	HP:0001156	Brachydactyly
ORPHA:3103	ESCO2	157570	HP:0000040	Long penis
ORPHA:3103	ESCO2	157570	HP:0000252	Microcephaly
ORPHA:3103	ESCO2	157570	HP:0001249	Intellectual disability
ORPHA:3103	ESCO2	157570	HP:0000204	Cleft upper lip
ORPHA:3103	ESCO2	157570	HP:0000347	Micrognathia
ORPHA:3103	ESCO2	157570	HP:0006487	Bowing of the long bones
ORPHA:3103	ESCO2	157570	HP:0008846	Severe intrauterine growth retardation
ORPHA:3103	ESCO2	157570	HP:0002974	Radioulnar synostosis
ORPHA:3103	ESCO2	157570	HP:0009623	Proximal placement of thumb
ORPHA:3103	ESCO2	157570	HP:0001622	Premature birth
ORPHA:3103	ESCO2	157570	HP:0008572	External ear malformation
ORPHA:3103	ESCO2	157570	HP:0000175	Cleft palate
ORPHA:3103	ESCO2	157570	HP:0007452	Midface capillary hemangioma
ORPHA:3103	ESCO2	157570	HP:0000272	Malar flattening
ORPHA:3103	ESCO2	157570	HP:0009943	Complete duplication of thumb phalanx
ORPHA:3103	ESCO2	157570	HP:0008897	Postnatal growth retardation
ORPHA:3103	ESCO2	157570	HP:0009466	Radial deviation of finger
ORPHA:3103	ESCO2	157570	HP:0000316	Hypertelorism
ORPHA:3103	ESCO2	157570	HP:0009829	Phocomelia
ORPHA:3103	ESCO2	157570	HP:0000248	Brachycephaly
ORPHA:3103	ESCO2	157570	HP:0000518	Cataract
ORPHA:3103	ESCO2	157570	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3103	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
ORPHA:3103	ESCO2	157570	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3103	ESCO2	157570	HP:0005011	Mesomelic arm shortening
ORPHA:3103	ESCO2	157570	HP:0000028	Cryptorchidism
ORPHA:3103	ESCO2	157570	HP:0002984	Hypoplasia of the radius
ORPHA:3103	ESCO2	157570	HP:0000387	Absent earlobe
OMIM:224230	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:224230	NOP10	55505	HP:0001249	Intellectual disability
OMIM:224230	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:224230	NOP10	55505	HP:0001792	Small nail
OMIM:224230	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:224230	NOP10	55505	HP:0001395	Hepatic fibrosis
OMIM:224230	NOP10	55505	HP:0009926	Increased lacrimation
OMIM:224230	NOP10	55505	HP:0000579	Nasolacrimal duct obstruction
OMIM:224230	NOP10	55505	HP:0002165	Pterygium of nails
OMIM:224230	NOP10	55505	HP:0002745	Oral leukoplakia
OMIM:224230	NOP10	55505	HP:0000691	Microdontia
OMIM:224230	NOP10	55505	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:224230	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:224230	NOP10	55505	HP:0000653	Sparse eyelashes
OMIM:224230	NOP10	55505	HP:0000939	Osteoporosis
OMIM:224230	NOP10	55505	HP:0001915	Aplastic anemia
OMIM:224230	NOP10	55505	HP:0002209	Sparse scalp hair
OMIM:224230	NOP10	55505	HP:0000670	Carious teeth
OMIM:224230	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:224230	NOP10	55505	HP:0000252	Microcephaly
OMIM:224230	NOP10	55505	HP:0003812	Phenotypic variability
OMIM:224230	NOP10	55505	HP:0002043	Esophageal stricture
OMIM:224230	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:224230	NHP2	55651	HP:0001249	Intellectual disability
OMIM:224230	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:224230	NHP2	55651	HP:0001792	Small nail
OMIM:224230	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:224230	NHP2	55651	HP:0001395	Hepatic fibrosis
OMIM:224230	NHP2	55651	HP:0009926	Increased lacrimation
OMIM:224230	NHP2	55651	HP:0000579	Nasolacrimal duct obstruction
OMIM:224230	NHP2	55651	HP:0002165	Pterygium of nails
OMIM:224230	NHP2	55651	HP:0002745	Oral leukoplakia
OMIM:224230	NHP2	55651	HP:0000691	Microdontia
OMIM:224230	NHP2	55651	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:224230	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:224230	NHP2	55651	HP:0000653	Sparse eyelashes
OMIM:224230	NHP2	55651	HP:0000939	Osteoporosis
OMIM:224230	NHP2	55651	HP:0001915	Aplastic anemia
OMIM:224230	NHP2	55651	HP:0002209	Sparse scalp hair
OMIM:224230	NHP2	55651	HP:0000670	Carious teeth
OMIM:224230	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:224230	NHP2	55651	HP:0000252	Microcephaly
OMIM:224230	NHP2	55651	HP:0003812	Phenotypic variability
OMIM:224230	NHP2	55651	HP:0002043	Esophageal stricture
OMIM:144010	APOB	338	HP:0003124	Hypercholesterolemia
OMIM:144010	APOB	338	HP:0000006	Autosomal dominant inheritance
OMIM:144010	APOB	338	HP:0001677	Coronary artery disease
OMIM:144010	APOB	338	HP:0001084	Corneal arcus
OMIM:144010	APOB	338	HP:0001114	Xanthelasma
OMIM:300489	ATP7A	538	HP:0007269	Spinal muscular atrophy
OMIM:300489	ATP7A	538	HP:0003445	EMG: neuropathic changes
OMIM:300489	ATP7A	538	HP:0003693	Distal amyotrophy
OMIM:300489	ATP7A	538	HP:0001265	Hyporeflexia
OMIM:300489	ATP7A	538	HP:0001761	Pes cavus
OMIM:300489	ATP7A	538	HP:0002460	Distal muscle weakness
OMIM:300489	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:300489	ATP7A	538	HP:0003621	Juvenile onset
OMIM:300489	ATP7A	538	HP:0003677	Slow progression
OMIM:300489	ATP7A	538	HP:0000759	Abnormal peripheral nervous system morphology
OMIM:300489	ATP7A	538	HP:0002317	Unsteady gait
OMIM:610425	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYBA4	1413	HP:0007971	Lamellar cataract
OMIM:214300	MEOX1	4222	HP:0000175	Cleft palate
OMIM:214300	MEOX1	4222	HP:0000912	Sprengel anomaly
OMIM:214300	MEOX1	4222	HP:0002650	Scoliosis
OMIM:214300	MEOX1	4222	HP:0001629	Ventricular septal defect
OMIM:214300	MEOX1	4222	HP:0000377	Abnormality of the pinna
OMIM:214300	MEOX1	4222	HP:0000466	Limited neck range of motion
OMIM:214300	MEOX1	4222	HP:0002162	Low posterior hairline
OMIM:214300	MEOX1	4222	HP:0002949	Fused cervical vertebrae
OMIM:214300	MEOX1	4222	HP:0000470	Short neck
OMIM:214300	MEOX1	4222	HP:0000204	Cleft upper lip
OMIM:214300	MEOX1	4222	HP:0004602	Cervical C2/C3 vertebral fusion
OMIM:214300	MEOX1	4222	HP:0000405	Conductive hearing impairment
OMIM:214300	MEOX1	4222	HP:0000407	Sensorineural hearing impairment
OMIM:214300	MEOX1	4222	HP:0000007	Autosomal recessive inheritance
ORPHA:894	PAX3	5077	HP:0000431	Wide nasal bridge
ORPHA:894	PAX3	5077	HP:0002227	White eyelashes
ORPHA:894	PAX3	5077	HP:0000303	Mandibular prognathia
ORPHA:894	PAX3	5077	HP:0000430	Underdeveloped nasal alae
ORPHA:894	PAX3	5077	HP:0002216	Premature graying of hair
ORPHA:894	PAX3	5077	HP:0000664	Synophrys
ORPHA:894	PAX3	5077	HP:0002211	White forelock
ORPHA:894	PAX3	5077	HP:0001053	Hypopigmented skin patches
ORPHA:894	PAX3	5077	HP:0011364	White hair
ORPHA:894	PAX3	5077	HP:0002226	White eyebrow
ORPHA:894	PAX3	5077	HP:0000504	Abnormality of vision
ORPHA:894	PAX3	5077	HP:0010804	Tented upper lip vermilion
ORPHA:894	PAX3	5077	HP:0000574	Thick eyebrow
ORPHA:894	PAX3	5077	HP:0001100	Heterochromia iridis
ORPHA:894	PAX3	5077	HP:0008527	Congenital sensorineural hearing impairment
ORPHA:894	PAX3	5077	HP:0000506	Telecanthus
ORPHA:894	PAX3	5077	HP:0000632	Lacrimation abnormality
ORPHA:894	PAX3	5077	HP:0003196	Short nose
OMIM:300896	SLC35A2	7355	HP:0001290	Generalized hypotonia
OMIM:300896	SLC35A2	7355	HP:0002719	Recurrent infections
OMIM:300896	SLC35A2	7355	HP:0003593	Infantile onset
OMIM:300896	SLC35A2	7355	HP:0012448	Delayed myelination
OMIM:300896	SLC35A2	7355	HP:0000510	Rod-cone dystrophy
OMIM:300896	SLC35A2	7355	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300896	SLC35A2	7355	HP:0000431	Wide nasal bridge
OMIM:300896	SLC35A2	7355	HP:0002059	Cerebral atrophy
OMIM:300896	SLC35A2	7355	HP:0002521	Hypsarrhythmia
OMIM:300896	SLC35A2	7355	HP:0000639	Nystagmus
OMIM:300896	SLC35A2	7355	HP:0012471	Thick vermilion border
OMIM:300896	SLC35A2	7355	HP:0001423	X-linked dominant inheritance
OMIM:300896	SLC35A2	7355	HP:0001442	Somatic mosaicism
OMIM:300896	SLC35A2	7355	HP:0200134	Epileptic encephalopathy
OMIM:300896	SLC35A2	7355	HP:0001250	Seizures
OMIM:300896	SLC35A2	7355	HP:0000574	Thick eyebrow
OMIM:300896	SLC35A2	7355	HP:0001263	Global developmental delay
OMIM:300896	SLC35A2	7355	HP:0000194	Open mouth
OMIM:300896	SLC35A2	7355	HP:0000280	Coarse facial features
OMIM:300896	SLC35A2	7355	HP:0000252	Microcephaly
OMIM:300896	SLC35A2	7355	HP:0001321	Cerebellar hypoplasia
OMIM:610832	PALB2	79728	HP:0000286	Epicanthus
OMIM:610832	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:610832	PALB2	79728	HP:0000252	Microcephaly
OMIM:610832	PALB2	79728	HP:0001915	Aplastic anemia
OMIM:610832	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	PALB2	79728	HP:0008897	Postnatal growth retardation
OMIM:610832	PALB2	79728	HP:0002885	Medulloblastoma
OMIM:610832	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:610832	PALB2	79728	HP:0009778	Short thumb
OMIM:610832	PALB2	79728	HP:0000470	Short neck
OMIM:610832	PALB2	79728	HP:0000316	Hypertelorism
OMIM:610832	PALB2	79728	HP:0001629	Ventricular septal defect
OMIM:614381	POLR3B	55703	HP:0001256	Intellectual disability, mild
OMIM:614381	POLR3B	55703	HP:0000666	Horizontal nystagmus
OMIM:614381	POLR3B	55703	HP:0000007	Autosomal recessive inheritance
OMIM:614381	POLR3B	55703	HP:0001260	Dysarthria
OMIM:614381	POLR3B	55703	HP:0002415	Leukodystrophy
OMIM:614381	POLR3B	55703	HP:0006808	Cerebral hypomyelination
OMIM:614381	POLR3B	55703	HP:0001272	Cerebellar atrophy
OMIM:614381	POLR3B	55703	HP:0001257	Spasticity
OMIM:614381	POLR3B	55703	HP:0001347	Hyperreflexia
OMIM:614381	POLR3B	55703	HP:0001151	Impaired horizontal smooth pursuit
OMIM:614381	POLR3B	55703	HP:0000545	Myopia
OMIM:614381	POLR3B	55703	HP:0000684	Delayed eruption of teeth
OMIM:614381	POLR3B	55703	HP:0000668	Hypodontia
OMIM:614381	POLR3B	55703	HP:0001310	Dysmetria
OMIM:614381	POLR3B	55703	HP:0002075	Dysdiadochokinesis
OMIM:614381	POLR3B	55703	HP:0003812	Phenotypic variability
OMIM:614381	POLR3B	55703	HP:0004322	Short stature
OMIM:614381	POLR3B	55703	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614381	POLR3B	55703	HP:0002080	Intention tremor
OMIM:615559	PRKCD	5580	HP:0002829	Arthralgia
OMIM:615559	PRKCD	5580	HP:0012578	Membranous nephropathy
OMIM:615559	PRKCD	5580	HP:0002719	Recurrent infections
OMIM:615559	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:615559	PRKCD	5580	HP:0002716	Lymphadenopathy
OMIM:615559	PRKCD	5580	HP:0003593	Infantile onset
OMIM:615559	PRKCD	5580	HP:0001973	Autoimmune thrombocytopenia
OMIM:615559	PRKCD	5580	HP:0000100	Nephrotic syndrome
OMIM:615559	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:615559	PRKCD	5580	HP:0001744	Splenomegaly
ORPHA:54	GPR143	4935	HP:0001107	Ocular albinism
ORPHA:54	GPR143	4935	HP:0000486	Strabismus
ORPHA:54	GPR143	4935	HP:0000613	Photophobia
ORPHA:54	GPR143	4935	HP:0007750	Hypoplasia of the fovea
ORPHA:54	GPR143	4935	HP:0000615	Abnormality of the pupil
ORPHA:54	GPR143	4935	HP:0000639	Nystagmus
ORPHA:54	GPR143	4935	HP:0001480	Freckling
ORPHA:54	GPR143	4935	HP:0000483	Astigmatism
OMIM:178300	ZFHX4	79776	HP:0000006	Autosomal dominant inheritance
OMIM:178300	ZFHX4	79776	HP:0007970	Congenital ptosis
OMIM:615273	NGLY1	55768	HP:0000522	Alacrima
OMIM:615273	NGLY1	55768	HP:0000007	Autosomal recessive inheritance
OMIM:615273	NGLY1	55768	HP:0001271	Polyneuropathy
OMIM:615273	NGLY1	55768	HP:0001290	Generalized hypotonia
OMIM:615273	NGLY1	55768	HP:0001945	Fever
OMIM:615273	NGLY1	55768	HP:0001773	Short foot
OMIM:615273	NGLY1	55768	HP:0200055	Small hand
OMIM:615273	NGLY1	55768	HP:0012531	Pain
ORPHA:324575	HNF1A	6927	HP:0000975	Hyperhidrosis
ORPHA:324575	HNF1A	6927	HP:0001998	Neonatal hypoglycemia
ORPHA:324575	HNF1A	6927	HP:0002013	Vomiting
ORPHA:324575	HNF1A	6927	HP:0001337	Tremor
ORPHA:324575	HNF1A	6927	HP:0003162	Fasting hypoglycemia
ORPHA:324575	HNF1A	6927	HP:0000713	Agitation
ORPHA:324575	HNF1A	6927	HP:0001520	Large for gestational age
ORPHA:324575	HNF1A	6927	HP:0001250	Seizures
ORPHA:324575	HNF1A	6927	HP:0002240	Hepatomegaly
ORPHA:324575	HNF1A	6927	HP:0001985	Hypoketotic hypoglycemia
ORPHA:324575	HNF1A	6927	HP:0001249	Intellectual disability
ORPHA:324575	HNF1A	6927	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:324575	HNF1A	6927	HP:0001254	Lethargy
ORPHA:324575	HNF1A	6927	HP:0000980	Pallor
ORPHA:324575	HNF1A	6927	HP:0002014	Diarrhea
ORPHA:324575	HNF1A	6927	HP:0002329	Drowsiness
ORPHA:324575	HNF1A	6927	HP:0002910	Elevated hepatic transaminases
ORPHA:324575	HNF1A	6927	HP:0001319	Neonatal hypotonia
ORPHA:324575	HNF1A	6927	HP:0001649	Tachycardia
ORPHA:324575	HNF1A	6927	HP:0004359	Abnormality of fatty-acid metabolism
ORPHA:324575	HNF1A	6927	HP:0001259	Coma
ORPHA:324575	HNF1A	6927	HP:0002344	Progressive neurologic deterioration
ORPHA:324575	HNF1A	6927	HP:0004510	Pancreatic islet-cell hyperplasia
ORPHA:324575	HNF1A	6927	HP:0012378	Fatigue
OMIM:614430	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614430	GATA4	2626	HP:0010445	Primum atrial septal defect
OMIM:613783	C1S	716	HP:0012115	Hepatitis
OMIM:613783	C1S	716	HP:0000872	Hashimoto thyroiditis
OMIM:613783	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1S	716	HP:0005339	Abnormality of complement system
OMIM:613824	NEK8	284086	HP:0004734	Renal cortical microcysts
OMIM:613824	NEK8	284086	HP:0000007	Autosomal recessive inheritance
OMIM:613824	NEK8	284086	HP:0003774	Stage 5 chronic kidney disease
OMIM:613824	NEK8	284086	HP:0000090	Nephronophthisis
ORPHA:1955	ELOVL4	6785	HP:0000958	Dry skin
ORPHA:1955	ELOVL4	6785	HP:0001265	Hyporeflexia
ORPHA:1955	ELOVL4	6785	HP:0000639	Nystagmus
ORPHA:1955	ELOVL4	6785	HP:0001025	Urticaria
ORPHA:1955	ELOVL4	6785	HP:0001288	Gait disturbance
ORPHA:1955	ELOVL4	6785	HP:0200034	Papule
ORPHA:1955	ELOVL4	6785	HP:0000966	Hypohidrosis
ORPHA:1955	ELOVL4	6785	HP:0012733	Macule
ORPHA:1955	ELOVL4	6785	HP:0001260	Dysarthria
ORPHA:1955	ELOVL4	6785	HP:0002075	Dysdiadochokinesis
ORPHA:1955	ELOVL4	6785	HP:0002073	Progressive cerebellar ataxia
ORPHA:233	CHN1	1123	HP:0002162	Low posterior hairline
ORPHA:233	CHN1	1123	HP:0000463	Anteverted nares
ORPHA:233	CHN1	1123	HP:0000486	Strabismus
ORPHA:233	CHN1	1123	HP:0000490	Deeply set eye
ORPHA:233	CHN1	1123	HP:0012246	Oculomotor nerve palsy
ORPHA:233	CHN1	1123	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:233	CHN1	1123	HP:0000407	Sensorineural hearing impairment
ORPHA:233	CHN1	1123	HP:0012745	Short palpebral fissure
ORPHA:233	CHN1	1123	HP:0000581	Blepharophimosis
ORPHA:233	COL25A1	84570	HP:0002162	Low posterior hairline
ORPHA:233	COL25A1	84570	HP:0000463	Anteverted nares
ORPHA:233	COL25A1	84570	HP:0000486	Strabismus
ORPHA:233	COL25A1	84570	HP:0000490	Deeply set eye
ORPHA:233	COL25A1	84570	HP:0012246	Oculomotor nerve palsy
ORPHA:233	COL25A1	84570	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:233	COL25A1	84570	HP:0000407	Sensorineural hearing impairment
ORPHA:233	COL25A1	84570	HP:0012745	Short palpebral fissure
ORPHA:233	COL25A1	84570	HP:0000581	Blepharophimosis
ORPHA:233	MAFB	9935	HP:0002162	Low posterior hairline
ORPHA:233	MAFB	9935	HP:0000463	Anteverted nares
ORPHA:233	MAFB	9935	HP:0000486	Strabismus
ORPHA:233	MAFB	9935	HP:0000490	Deeply set eye
ORPHA:233	MAFB	9935	HP:0012246	Oculomotor nerve palsy
ORPHA:233	MAFB	9935	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:233	MAFB	9935	HP:0000407	Sensorineural hearing impairment
ORPHA:233	MAFB	9935	HP:0012745	Short palpebral fissure
ORPHA:233	MAFB	9935	HP:0000581	Blepharophimosis
OMIM:259730	CA2	760	HP:0004437	Cranial hyperostosis
OMIM:259730	CA2	760	HP:0008341	Distal renal tubular acidosis
OMIM:259730	CA2	760	HP:0004322	Short stature
OMIM:259730	CA2	760	HP:0000572	Visual loss
OMIM:259730	CA2	760	HP:0000689	Dental malocclusion
OMIM:259730	CA2	760	HP:0003034	Diaphyseal sclerosis
OMIM:259730	CA2	760	HP:0000007	Autosomal recessive inheritance
OMIM:259730	CA2	760	HP:0002135	Basal ganglia calcification
OMIM:259730	CA2	760	HP:0007807	Optic nerve compression
OMIM:259730	CA2	760	HP:0001978	Extramedullary hematopoiesis
OMIM:259730	CA2	760	HP:0008153	Periodic hypokalemic paresis
OMIM:259730	CA2	760	HP:0011002	Osteopetrosis
OMIM:259730	CA2	760	HP:0001249	Intellectual disability
OMIM:259730	CA2	760	HP:0001433	Hepatosplenomegaly
OMIM:259730	CA2	760	HP:0003148	Elevated serum acid phosphatase
OMIM:259730	CA2	760	HP:0001903	Anemia
OMIM:190330	FGF5	2250	HP:0000006	Autosomal dominant inheritance
OMIM:190330	FGF5	2250	HP:0000518	Cataract
OMIM:190330	FGF5	2250	HP:0000007	Autosomal recessive inheritance
OMIM:190330	FGF5	2250	HP:0000527	Long eyelashes
OMIM:612932	ENO3	2027	HP:0003581	Adult onset
OMIM:612932	ENO3	2027	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612932	ENO3	2027	HP:0009051	Increased muscle glycogen content
OMIM:612932	ENO3	2027	HP:0003326	Myalgia
OMIM:612932	ENO3	2027	HP:0003546	Exercise intolerance
OMIM:612932	ENO3	2027	HP:0000007	Autosomal recessive inheritance
OMIM:250800	CYB5R3	1727	HP:0001276	Hypertonia
OMIM:250800	CYB5R3	1727	HP:0012119	Methemoglobinemia
OMIM:250800	CYB5R3	1727	HP:0001510	Growth delay
OMIM:250800	CYB5R3	1727	HP:0002315	Headache
OMIM:250800	CYB5R3	1727	HP:0002179	Opisthotonus
OMIM:250800	CYB5R3	1727	HP:0002875	Exertional dyspnea
OMIM:250800	CYB5R3	1727	HP:0001901	Polycythemia
OMIM:250800	CYB5R3	1727	HP:0000961	Cyanosis
OMIM:250800	CYB5R3	1727	HP:0000252	Microcephaly
OMIM:250800	CYB5R3	1727	HP:0001249	Intellectual disability
OMIM:250800	CYB5R3	1727	HP:0001263	Global developmental delay
OMIM:250800	CYB5R3	1727	HP:0000007	Autosomal recessive inheritance
OMIM:250800	CYB5R3	1727	HP:0000486	Strabismus
OMIM:225250	NKX2-5	1482	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225250	NKX2-5	1482	HP:0006887	Intellectual disability, progressive
OMIM:225250	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:225250	NKX2-5	1482	HP:0000851	Congenital hypothyroidism
OMIM:225250	NKX2-5	1482	HP:0005990	Thyroid hypoplasia
OMIM:225250	NKX2-5	1482	HP:0001510	Growth delay
OMIM:225250	NKX2-5	1482	HP:0010864	Intellectual disability, severe
OMIM:225250	NKX2-5	1482	HP:0100028	Ectopic thyroid
OMIM:216400	ERCC8	1161	HP:0011675	Arrhythmia
OMIM:216400	ERCC8	1161	HP:0008850	Severe postnatal growth retardation
OMIM:216400	ERCC8	1161	HP:0000377	Abnormality of the pinna
OMIM:216400	ERCC8	1161	HP:0002135	Basal ganglia calcification
OMIM:216400	ERCC8	1161	HP:0000970	Anhidrosis
OMIM:216400	ERCC8	1161	HP:0003357	Thymic hormone decreased
OMIM:216400	ERCC8	1161	HP:0011359	Dry hair
OMIM:216400	ERCC8	1161	HP:0001000	Abnormality of skin pigmentation
OMIM:216400	ERCC8	1161	HP:0000540	Hypermetropia
OMIM:216400	ERCC8	1161	HP:0001324	Muscle weakness
OMIM:216400	ERCC8	1161	HP:0000407	Sensorineural hearing impairment
OMIM:216400	ERCC8	1161	HP:0000028	Cryptorchidism
OMIM:216400	ERCC8	1161	HP:0001511	Intrauterine growth retardation
OMIM:216400	ERCC8	1161	HP:0000093	Proteinuria
OMIM:216400	ERCC8	1161	HP:0001337	Tremor
OMIM:216400	ERCC8	1161	HP:0001425	Heterogeneous
OMIM:216400	ERCC8	1161	HP:0000580	Pigmentary retinopathy
OMIM:216400	ERCC8	1161	HP:0000649	Abnormality of visual evoked potentials
OMIM:216400	ERCC8	1161	HP:0003278	Square pelvis bone
OMIM:216400	ERCC8	1161	HP:0000689	Dental malocclusion
OMIM:216400	ERCC8	1161	HP:0000822	Hypertension
OMIM:216400	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:216400	ERCC8	1161	HP:0008839	Hypoplastic pelvis
OMIM:216400	ERCC8	1161	HP:0000292	Loss of facial adipose tissue
OMIM:216400	ERCC8	1161	HP:0000486	Strabismus
OMIM:216400	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:216400	ERCC8	1161	HP:0000858	Menstrual irregularities
OMIM:216400	ERCC8	1161	HP:0001376	Limitation of joint mobility
OMIM:216400	ERCC8	1161	HP:0000054	Micropenis
OMIM:216400	ERCC8	1161	HP:0001744	Splenomegaly
OMIM:216400	ERCC8	1161	HP:0001249	Intellectual disability
OMIM:216400	ERCC8	1161	HP:0002808	Kyphosis
OMIM:216400	ERCC8	1161	HP:0000648	Optic atrophy
OMIM:216400	ERCC8	1161	HP:0001288	Gait disturbance
OMIM:216400	ERCC8	1161	HP:0002866	Hypoplastic iliac wing
OMIM:216400	ERCC8	1161	HP:0000670	Carious teeth
OMIM:216400	ERCC8	1161	HP:0002684	Thickened calvaria
OMIM:216400	ERCC8	1161	HP:0000518	Cataract
OMIM:216400	ERCC8	1161	HP:0002059	Cerebral atrophy
OMIM:216400	ERCC8	1161	HP:0001271	Polyneuropathy
OMIM:216400	ERCC8	1161	HP:0000680	Delayed eruption of primary teeth
OMIM:216400	ERCC8	1161	HP:0002343	Normal pressure hydrocephalus
OMIM:216400	ERCC8	1161	HP:0002240	Hepatomegaly
OMIM:216400	ERCC8	1161	HP:0007759	Opacification of the corneal stroma
OMIM:216400	ERCC8	1161	HP:0000685	Hypoplasia of teeth
OMIM:216400	ERCC8	1161	HP:0003469	Peripheral dysmyelination
OMIM:216400	ERCC8	1161	HP:0000252	Microcephaly
OMIM:216400	ERCC8	1161	HP:0000417	Slender nose
OMIM:216400	ERCC8	1161	HP:0000726	Dementia
OMIM:216400	ERCC8	1161	HP:0000135	Hypogonadism
OMIM:216400	ERCC8	1161	HP:0000303	Mandibular prognathia
OMIM:216400	ERCC8	1161	HP:0000639	Nystagmus
OMIM:216400	ERCC8	1161	HP:0000958	Dry skin
OMIM:216400	ERCC8	1161	HP:0001250	Seizures
OMIM:216400	ERCC8	1161	HP:0007814	Retinal pigment epithelial mottling
OMIM:216400	ERCC8	1161	HP:0001251	Ataxia
OMIM:216400	ERCC8	1161	HP:0002545	Patchy demyelination of subcortical white matter
OMIM:216400	ERCC8	1161	HP:0008070	Sparse hair
OMIM:216400	ERCC8	1161	HP:0006958	Abnormal auditory evoked potentials
OMIM:216400	ERCC8	1161	HP:0000083	Renal insufficiency
OMIM:216400	ERCC8	1161	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:216400	ERCC8	1161	HP:0000633	Decreased lacrimation
OMIM:216400	ERCC8	1161	HP:0003224	Increased cellular sensitivity to UV light
OMIM:216400	ERCC8	1161	HP:0005328	Progeroid facial appearance
OMIM:216400	ERCC8	1161	HP:0010234	Ivory epiphyses of the phalanges of the hand
OMIM:216400	ERCC8	1161	HP:0000987	Atypical scarring of skin
OMIM:216400	ERCC8	1161	HP:0001260	Dysarthria
OMIM:216400	ERCC8	1161	HP:0000762	Decreased nerve conduction velocity
OMIM:228930	WNT7A	7476	HP:0001762	Talipes equinovarus
OMIM:228930	WNT7A	7476	HP:0002984	Hypoplasia of the radius
OMIM:228930	WNT7A	7476	HP:0001180	Hand oligodactyly
OMIM:228930	WNT7A	7476	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:228930	WNT7A	7476	HP:0002980	Femoral bowing
OMIM:228930	WNT7A	7476	HP:0030084	Clinodactyly
OMIM:228930	WNT7A	7476	HP:0000007	Autosomal recessive inheritance
OMIM:228930	WNT7A	7476	HP:0002866	Hypoplastic iliac wing
OMIM:228930	WNT7A	7476	HP:0002990	Fibular aplasia
OMIM:228930	WNT7A	7476	HP:0001162	Postaxial hand polydactyly
OMIM:228930	WNT7A	7476	HP:0002986	Radial bowing
OMIM:228930	WNT7A	7476	HP:0000141	Amenorrhea
OMIM:228930	WNT7A	7476	HP:0005613	Aplasia/hypoplasia of the femur
OMIM:228930	WNT7A	7476	HP:0006262	Aplasia/Hypoplasia of the 5th finger
OMIM:228930	WNT7A	7476	HP:0009465	Ulnar deviation of finger
OMIM:228930	WNT7A	7476	HP:0004322	Short stature
OMIM:228930	WNT7A	7476	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:228930	WNT7A	7476	HP:0006492	Aplasia/Hypoplasia of the fibula
OMIM:228930	WNT7A	7476	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:228930	WNT7A	7476	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:228930	WNT7A	7476	HP:0001374	Congenital hip dislocation
OMIM:228930	WNT7A	7476	HP:0006443	Patellar aplasia
OMIM:228930	WNT7A	7476	HP:0001849	Foot oligodactyly
OMIM:228930	WNT7A	7476	HP:0006143	Abnormal finger flexion creases
OMIM:228930	WNT7A	7476	HP:0008839	Hypoplastic pelvis
OMIM:228930	WNT7A	7476	HP:0001770	Toe syndactyly
OMIM:228930	WNT7A	7476	HP:0001802	Absent toenail
OMIM:300624	FMR1	2332	HP:0002650	Scoliosis
OMIM:300624	FMR1	2332	HP:0000303	Mandibular prognathia
OMIM:300624	FMR1	2332	HP:0000817	Poor eye contact
OMIM:300624	FMR1	2332	HP:0003829	Incomplete penetrance
OMIM:300624	FMR1	2332	HP:0000717	Autism
OMIM:300624	FMR1	2332	HP:0001763	Pes planus
OMIM:300624	FMR1	2332	HP:0007165	Periventricular gray matter heterotopia
OMIM:300624	FMR1	2332	HP:0000767	Pectus excavatum
OMIM:300624	FMR1	2332	HP:0008640	Congenital macroorchidism
OMIM:300624	FMR1	2332	HP:0000280	Coarse facial features
OMIM:300624	FMR1	2332	HP:0001250	Seizures
OMIM:300624	FMR1	2332	HP:0001388	Joint laxity
OMIM:300624	FMR1	2332	HP:0002050	Macroorchidism, postpubertal
OMIM:300624	FMR1	2332	HP:0001423	X-linked dominant inheritance
OMIM:300624	FMR1	2332	HP:0000276	Long face
OMIM:300624	FMR1	2332	HP:0000400	Macrotia
OMIM:300624	FMR1	2332	HP:0002457	Abnormal head movements
OMIM:300624	FMR1	2332	HP:0000256	Macrocephaly
OMIM:300624	FMR1	2332	HP:0002003	Large forehead
OMIM:300624	FMR1	2332	HP:0002342	Intellectual disability, moderate
OMIM:300624	FMR1	2332	HP:0000752	Hyperactivity
OMIM:300624	FMR1	2332	HP:0003564	Folate-dependent fragile site at Xq28
OMIM:300624	FMR1	2332	HP:0001634	Mitral valve prolapse
OMIM:176670	LMNA	4000	HP:0007485	Absence of subcutaneous fat
OMIM:176670	LMNA	4000	HP:0001596	Alopecia
OMIM:176670	LMNA	4000	HP:0005181	Premature coronary artery disease
OMIM:176670	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:176670	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:176670	LMNA	4000	HP:0001510	Growth delay
OMIM:176670	LMNA	4000	HP:0000347	Micrognathia
OMIM:176670	LMNA	4000	HP:0004416	Precocious atherosclerosis
OMIM:176670	LMNA	4000	HP:0011800	Midface retrusion
OMIM:176670	LMNA	4000	HP:0040160	Generalized osteoporosis
OMIM:176670	LMNA	4000	HP:0001681	Angina pectoris
OMIM:176670	LMNA	4000	HP:0002797	Osteolysis
OMIM:176670	LMNA	4000	HP:0000272	Malar flattening
OMIM:176670	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:176670	LMNA	4000	HP:0001658	Myocardial infarction
ORPHA:140	SOX9	6662	HP:0002757	Recurrent fractures
ORPHA:140	SOX9	6662	HP:0000037	Male pseudohermaphroditism
ORPHA:140	SOX9	6662	HP:0000256	Macrocephaly
ORPHA:140	SOX9	6662	HP:0000347	Micrognathia
ORPHA:140	SOX9	6662	HP:0002786	Tracheobronchomalacia
ORPHA:140	SOX9	6662	HP:0000470	Short neck
ORPHA:140	SOX9	6662	HP:0000520	Proptosis
ORPHA:140	SOX9	6662	HP:0002827	Hip dislocation
ORPHA:140	SOX9	6662	HP:0001601	Laryngomalacia
ORPHA:140	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHA:140	SOX9	6662	HP:0000369	Low-set ears
ORPHA:140	SOX9	6662	HP:0000878	11 pairs of ribs
ORPHA:140	SOX9	6662	HP:0004322	Short stature
ORPHA:140	SOX9	6662	HP:0000175	Cleft palate
ORPHA:140	SOX9	6662	HP:0010781	Skin dimples
ORPHA:140	SOX9	6662	HP:0000774	Narrow chest
ORPHA:140	SOX9	6662	HP:0002982	Tibial bowing
ORPHA:140	SOX9	6662	HP:0002650	Scoliosis
ORPHA:140	SOX9	6662	HP:0002980	Femoral bowing
ORPHA:140	SOX9	6662	HP:0000316	Hypertelorism
ORPHA:140	SOX9	6662	HP:0006584	Small abnormally formed scapulae
ORPHA:140	SOX9	6662	HP:0001762	Talipes equinovarus
ORPHA:140	SOX9	6662	HP:0008821	Hypoplastic inferior ilia
ORPHA:140	SOX9	6662	HP:0012368	Flat face
ORPHA:140	SOX9	6662	HP:0002093	Respiratory insufficiency
ORPHA:140	SOX9	6662	HP:0003038	Fibular hypoplasia
ORPHA:140	SOX9	6662	HP:0008477	Poorly ossified cervical vertebrae
OMIM:256050	SLC26A2	1836	HP:0002093	Respiratory insufficiency
OMIM:256050	SLC26A2	1836	HP:0005280	Depressed nasal bridge
OMIM:256050	SLC26A2	1836	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256050	SLC26A2	1836	HP:0003180	Flat acetabular roof
OMIM:256050	SLC26A2	1836	HP:0005257	Thoracic hypoplasia
OMIM:256050	SLC26A2	1836	HP:0002938	Lumbar hyperlordosis
OMIM:256050	SLC26A2	1836	HP:0003417	Coronal cleft vertebrae
OMIM:256050	SLC26A2	1836	HP:0000272	Malar flattening
OMIM:256050	SLC26A2	1836	HP:0000470	Short neck
OMIM:256050	SLC26A2	1836	HP:0006375	Dumbbell-shaped femur
OMIM:256050	SLC26A2	1836	HP:0011800	Midface retrusion
OMIM:256050	SLC26A2	1836	HP:0000926	Platyspondyly
OMIM:256050	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:256050	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:256050	SLC26A2	1836	HP:0001852	Sandal gap
OMIM:256050	SLC26A2	1836	HP:0002650	Scoliosis
OMIM:256050	SLC26A2	1836	HP:0005819	Short middle phalanx of finger
OMIM:256050	SLC26A2	1836	HP:0000347	Micrognathia
OMIM:256050	SLC26A2	1836	HP:0002947	Cervical kyphosis
OMIM:256050	SLC26A2	1836	HP:0000175	Cleft palate
OMIM:256050	SLC26A2	1836	HP:0003826	Stillbirth
OMIM:256050	SLC26A2	1836	HP:0003185	Short sacroiliac notch
OMIM:256050	SLC26A2	1836	HP:0003440	Horizontal sacrum
OMIM:256050	SLC26A2	1836	HP:0002089	Pulmonary hypoplasia
OMIM:256050	SLC26A2	1836	HP:0002983	Micromelia
OMIM:185000	RHAG	6005	HP:0005502	Increased red cell osmotic fragility
OMIM:185000	RHAG	6005	HP:0001923	Reticulocytosis
OMIM:185000	RHAG	6005	HP:0001744	Splenomegaly
OMIM:185000	RHAG	6005	HP:0003575	Increased intracellular sodium
OMIM:185000	RHAG	6005	HP:0000952	Jaundice
OMIM:185000	RHAG	6005	HP:0000006	Autosomal dominant inheritance
OMIM:185000	RHAG	6005	HP:0002904	Hyperbilirubinemia
OMIM:185000	RHAG	6005	HP:0001878	Hemolytic anemia
OMIM:185000	RHAG	6005	HP:0002240	Hepatomegaly
OMIM:185000	RHAG	6005	HP:0004446	Stomatocytosis
OMIM:185000	STOM	2040	HP:0005502	Increased red cell osmotic fragility
OMIM:185000	STOM	2040	HP:0001923	Reticulocytosis
OMIM:185000	STOM	2040	HP:0001744	Splenomegaly
OMIM:185000	STOM	2040	HP:0003575	Increased intracellular sodium
OMIM:185000	STOM	2040	HP:0000952	Jaundice
OMIM:185000	STOM	2040	HP:0000006	Autosomal dominant inheritance
OMIM:185000	STOM	2040	HP:0002904	Hyperbilirubinemia
OMIM:185000	STOM	2040	HP:0001878	Hemolytic anemia
OMIM:185000	STOM	2040	HP:0002240	Hepatomegaly
OMIM:185000	STOM	2040	HP:0004446	Stomatocytosis
OMIM:136570	FRA16E	2464	HP:0001999	Abnormal facial shape
OMIM:136570	FRA16E	2464	HP:0000750	Delayed speech and language development
OMIM:136570	FRA16E	2464	HP:0001263	Global developmental delay
OMIM:136570	FRA16E	2464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614498	BRAT1	221927	HP:0002529	Neuronal loss in central nervous system
OMIM:614498	BRAT1	221927	HP:0001276	Hypertonia
OMIM:614498	BRAT1	221927	HP:0002104	Apnea
OMIM:614498	BRAT1	221927	HP:0001263	Global developmental delay
OMIM:614498	BRAT1	221927	HP:0003487	Babinski sign
OMIM:614498	BRAT1	221927	HP:0003739	Myoclonic spasms
OMIM:614498	BRAT1	221927	HP:0001662	Bradycardia
OMIM:614498	BRAT1	221927	HP:0002171	Gliosis
OMIM:614498	BRAT1	221927	HP:0000007	Autosomal recessive inheritance
OMIM:614498	BRAT1	221927	HP:0001371	Flexion contracture
OMIM:614498	BRAT1	221927	HP:0002063	Rigidity
OMIM:614498	BRAT1	221927	HP:0002459	Dysautonomia
OMIM:614498	BRAT1	221927	HP:0031165	Multifocal seizures
OMIM:614498	BRAT1	221927	HP:0000252	Microcephaly
OMIM:614498	BRAT1	221927	HP:0001522	Death in infancy
OMIM:614498	BRAT1	221927	HP:0000253	Progressive microcephaly
OMIM:614498	BRAT1	221927	HP:0002169	Clonus
OMIM:614498	BRAT1	221927	HP:0002123	Generalized myoclonic seizures
OMIM:615238	CIDEC	63924	HP:0001397	Hepatic steatosis
OMIM:615238	CIDEC	63924	HP:0002240	Hepatomegaly
OMIM:615238	CIDEC	63924	HP:0000956	Acanthosis nigricans
OMIM:615238	CIDEC	63924	HP:0002155	Hypertriglyceridemia
OMIM:615238	CIDEC	63924	HP:0009125	Lipodystrophy
OMIM:615238	CIDEC	63924	HP:0000007	Autosomal recessive inheritance
OMIM:616649	SPTB	6710	HP:0000952	Jaundice
OMIM:616649	SPTB	6710	HP:0002904	Hyperbilirubinemia
OMIM:616649	SPTB	6710	HP:0001744	Splenomegaly
OMIM:616649	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:616649	SPTB	6710	HP:0001923	Reticulocytosis
OMIM:616649	SPTB	6710	HP:0004444	Spherocytosis
OMIM:616649	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:615043	C19ORF12	83636	HP:0001761	Pes cavus
OMIM:615043	C19ORF12	83636	HP:0000007	Autosomal recessive inheritance
OMIM:615043	C19ORF12	83636	HP:0001260	Dysarthria
OMIM:615043	C19ORF12	83636	HP:0001288	Gait disturbance
OMIM:615043	C19ORF12	83636	HP:0001347	Hyperreflexia
OMIM:615043	C19ORF12	83636	HP:0002936	Distal sensory impairment
OMIM:615043	C19ORF12	83636	HP:0003693	Distal amyotrophy
OMIM:615043	C19ORF12	83636	HP:0006380	Knee flexion contracture
OMIM:615043	C19ORF12	83636	HP:0001258	Spastic paraplegia
OMIM:615043	C19ORF12	83636	HP:0003677	Slow progression
OMIM:615043	C19ORF12	83636	HP:0001265	Hyporeflexia
OMIM:615043	C19ORF12	83636	HP:0003487	Babinski sign
OMIM:615043	C19ORF12	83636	HP:0006466	Ankle contracture
OMIM:615043	C19ORF12	83636	HP:0003828	Variable expressivity
OMIM:613087	TLL1	7092	HP:0001631	Atrial septal defect
OMIM:613087	TLL1	7092	HP:0000006	Autosomal dominant inheritance
ORPHA:53693	BCS1L	617	HP:0001511	Intrauterine growth retardation
ORPHA:53693	BCS1L	617	HP:0003128	Lactic acidosis
ORPHA:53693	BCS1L	617	HP:0001396	Cholestasis
ORPHA:53693	BCS1L	617	HP:0000365	Hearing impairment
ORPHA:53693	BCS1L	617	HP:0001397	Hepatic steatosis
ORPHA:53693	BCS1L	617	HP:0012464	Decreased transferrin saturation
ORPHA:53693	BCS1L	617	HP:0003281	Increased serum ferritin
ORPHA:53693	BCS1L	617	HP:0012465	Elevated hepatic iron concentration
ORPHA:53693	BCS1L	617	HP:0100613	Death in early adulthood
ORPHA:53693	BCS1L	617	HP:0001394	Cirrhosis
ORPHA:53693	BCS1L	617	HP:0001994	Renal Fanconi syndrome
OMIM:612653	SLC4A1	6521	HP:0000952	Jaundice
OMIM:612653	SLC4A1	6521	HP:0005502	Increased red cell osmotic fragility
OMIM:612653	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:612653	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:612653	SLC4A1	6521	HP:0002904	Hyperbilirubinemia
OMIM:612653	SLC4A1	6521	HP:0001923	Reticulocytosis
OMIM:612653	SLC4A1	6521	HP:0004444	Spherocytosis
OMIM:612653	SLC4A1	6521	HP:0001744	Splenomegaly
OMIM:314050	GATA1	2623	HP:0001744	Splenomegaly
OMIM:314050	GATA1	2623	HP:0000421	Epistaxis
OMIM:314050	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:314050	GATA1	2623	HP:0001878	Hemolytic anemia
OMIM:314050	GATA1	2623	HP:0001923	Reticulocytosis
OMIM:314050	GATA1	2623	HP:0000978	Bruising susceptibility
OMIM:314050	GATA1	2623	HP:0003010	Prolonged bleeding time
OMIM:314050	GATA1	2623	HP:0001873	Thrombocytopenia
OMIM:314050	GATA1	2623	HP:0000967	Petechiae
OMIM:194300	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:194300	KRT74	121391	HP:0002217	Slow-growing hair
OMIM:194300	KRT74	121391	HP:0002224	Woolly hair
OMIM:194300	KRT74	121391	HP:0011359	Dry hair
OMIM:194300	KRT74	121391	HP:0002208	Coarse hair
OMIM:616214	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:615281	DARS	1615	HP:0001257	Spasticity
OMIM:615281	DARS	1615	HP:0001270	Motor delay
OMIM:615281	DARS	1615	HP:0003487	Babinski sign
OMIM:615281	DARS	1615	HP:0000639	Nystagmus
OMIM:615281	DARS	1615	HP:0003429	CNS hypomyelination
OMIM:615281	DARS	1615	HP:0003593	Infantile onset
OMIM:615281	DARS	1615	HP:0001347	Hyperreflexia
OMIM:615281	DARS	1615	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615281	DARS	1615	HP:0000007	Autosomal recessive inheritance
OMIM:615281	DARS	1615	HP:0002352	Leukoencephalopathy
OMIM:615281	DARS	1615	HP:0003676	Progressive
OMIM:615281	DARS	1615	HP:0008936	Muscular hypotonia of the trunk
ORPHA:158	SLC22A5	6584	HP:0000467	Neck muscle weakness
ORPHA:158	SLC22A5	6584	HP:0006846	Acute encephalopathy
ORPHA:158	SLC22A5	6584	HP:0001289	Confusion
ORPHA:158	SLC22A5	6584	HP:0002240	Hepatomegaly
ORPHA:158	SLC22A5	6584	HP:0002312	Clumsiness
ORPHA:158	SLC22A5	6584	HP:0007334	Generalized tonic-clonic seizures with focal onset
ORPHA:158	SLC22A5	6584	HP:0002013	Vomiting
ORPHA:158	SLC22A5	6584	HP:0002910	Elevated hepatic transaminases
OMIM:617092	TTC25	83538	HP:0011109	Chronic sinusitis
OMIM:617092	TTC25	83538	HP:0003577	Congenital onset
OMIM:617092	TTC25	83538	HP:0100582	Nasal polyposis
OMIM:617092	TTC25	83538	HP:0002110	Bronchiectasis
OMIM:617092	TTC25	83538	HP:0000007	Autosomal recessive inheritance
OMIM:617092	TTC25	83538	HP:0002257	Chronic rhinitis
ORPHA:3205	GNAQ	2776	HP:0001297	Stroke
ORPHA:3205	GNAQ	2776	HP:0005306	Capillary hemangiomas
ORPHA:3205	GNAQ	2776	HP:0000501	Glaucoma
ORPHA:3205	GNAQ	2776	HP:0001250	Seizures
ORPHA:3205	GNAQ	2776	HP:0001347	Hyperreflexia
ORPHA:3205	GNAQ	2776	HP:0000648	Optic atrophy
ORPHA:3205	GNAQ	2776	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:3205	GNAQ	2776	HP:0001249	Intellectual disability
ORPHA:3205	GNAQ	2776	HP:0000486	Strabismus
OMIM:601399	RUNX1	861	HP:0003010	Prolonged bleeding time
OMIM:601399	RUNX1	861	HP:0002863	Myelodysplasia
OMIM:601399	RUNX1	861	HP:0003540	Impaired platelet aggregation
OMIM:601399	RUNX1	861	HP:0004808	Acute myeloid leukemia
OMIM:601399	RUNX1	861	HP:0000421	Epistaxis
OMIM:601399	RUNX1	861	HP:0004845	Acute monocytic leukemia
OMIM:601399	RUNX1	861	HP:0002665	Lymphoma
OMIM:601399	RUNX1	861	HP:0000006	Autosomal dominant inheritance
OMIM:601399	RUNX1	861	HP:0001873	Thrombocytopenia
OMIM:601399	RUNX1	861	HP:0003006	Neuroblastoma
OMIM:601399	RUNX1	861	HP:0000978	Bruising susceptibility
ORPHA:90044	ABCB6	10058	HP:0000822	Hypertension
ORPHA:90044	ABCB6	10058	HP:0002153	Hyperkalemia
ORPHA:90044	ABCB6	10058	HP:0004446	Stomatocytosis
OMIM:616486	MFSD2A	84879	HP:0002064	Spastic gait
OMIM:616486	MFSD2A	84879	HP:0001263	Global developmental delay
OMIM:616486	MFSD2A	84879	HP:0000582	Upslanted palpebral fissure
OMIM:616486	MFSD2A	84879	HP:0001344	Absent speech
OMIM:616486	MFSD2A	84879	HP:0001762	Talipes equinovarus
OMIM:616486	MFSD2A	84879	HP:0000253	Progressive microcephaly
OMIM:616486	MFSD2A	84879	HP:0003577	Congenital onset
OMIM:616486	MFSD2A	84879	HP:0001250	Seizures
OMIM:616486	MFSD2A	84879	HP:0002540	Inability to walk
OMIM:616486	MFSD2A	84879	HP:0001285	Spastic tetraparesis
OMIM:616486	MFSD2A	84879	HP:0002119	Ventriculomegaly
OMIM:616486	MFSD2A	84879	HP:0003676	Progressive
OMIM:616486	MFSD2A	84879	HP:0002365	Hypoplasia of the brainstem
OMIM:616486	MFSD2A	84879	HP:0010864	Intellectual disability, severe
OMIM:616486	MFSD2A	84879	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616486	MFSD2A	84879	HP:0001321	Cerebellar hypoplasia
OMIM:616486	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:616486	MFSD2A	84879	HP:0001290	Generalized hypotonia
OMIM:616486	MFSD2A	84879	HP:0001347	Hyperreflexia
OMIM:108720	FLNB	2317	HP:0006408	Distal tapering femur
OMIM:108720	FLNB	2317	HP:0000470	Short neck
OMIM:108720	FLNB	2317	HP:0000774	Narrow chest
OMIM:108720	FLNB	2317	HP:0010743	Short metatarsal
OMIM:108720	FLNB	2317	HP:0003196	Short nose
OMIM:108720	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:108720	FLNB	2317	HP:0006406	Club-shaped proximal femur
OMIM:108720	FLNB	2317	HP:0002986	Radial bowing
OMIM:108720	FLNB	2317	HP:0003745	Sporadic
OMIM:108720	FLNB	2317	HP:0003097	Short femur
OMIM:108720	FLNB	2317	HP:0011800	Midface retrusion
OMIM:108720	FLNB	2317	HP:0003417	Coronal cleft vertebrae
OMIM:108720	FLNB	2317	HP:0001156	Brachydactyly
OMIM:108720	FLNB	2317	HP:0002949	Fused cervical vertebrae
OMIM:108720	FLNB	2317	HP:0002982	Tibial bowing
OMIM:108720	FLNB	2317	HP:0004592	Thoracic platyspondyly
OMIM:108720	FLNB	2317	HP:0001622	Premature birth
OMIM:108720	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:108720	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:108720	FLNB	2317	HP:0003826	Stillbirth
OMIM:108720	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:108720	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:108720	FLNB	2317	HP:0008905	Rhizomelia
OMIM:108720	FLNB	2317	HP:0001561	Polyhydramnios
OMIM:108720	FLNB	2317	HP:0002084	Encephalocele
OMIM:108720	FLNB	2317	HP:0000347	Micrognathia
OMIM:108720	FLNB	2317	HP:0002990	Fibular aplasia
OMIM:108720	FLNB	2317	HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage
OMIM:108720	FLNB	2317	HP:0003811	Neonatal death
OMIM:108720	FLNB	2317	HP:0000878	11 pairs of ribs
OMIM:108720	FLNB	2317	HP:0001217	Clubbing
OMIM:108720	FLNB	2317	HP:0005792	Short humerus
OMIM:108720	FLNB	2317	HP:0000175	Cleft palate
OMIM:108720	FLNB	2317	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:108720	FLNB	2317	HP:0000272	Malar flattening
OMIM:108720	FLNB	2317	HP:0001602	Laryngeal stenosis
OMIM:108720	FLNB	2317	HP:0010049	Short metacarpal
OMIM:108720	FLNB	2317	HP:0000520	Proptosis
OMIM:108720	FLNB	2317	HP:0002007	Frontal bossing
OMIM:259500	CHEK2	11200	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	CHEK2	11200	HP:0002669	Osteosarcoma
OMIM:259500	CHEK2	11200	HP:0009919	Retinoblastoma
OMIM:259500	RB1	5925	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	RB1	5925	HP:0002669	Osteosarcoma
OMIM:259500	RB1	5925	HP:0009919	Retinoblastoma
OMIM:259500	TP53	7157	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	TP53	7157	HP:0002669	Osteosarcoma
OMIM:259500	TP53	7157	HP:0009919	Retinoblastoma
OMIM:614751	REEP1	65055	HP:0000006	Autosomal dominant inheritance
OMIM:614751	REEP1	65055	HP:0001265	Hyporeflexia
OMIM:614751	REEP1	65055	HP:0003431	Decreased motor nerve conduction velocity
OMIM:614751	REEP1	65055	HP:0003693	Distal amyotrophy
OMIM:614751	REEP1	65055	HP:0001284	Areflexia
OMIM:614751	REEP1	65055	HP:0001761	Pes cavus
OMIM:614751	REEP1	65055	HP:0002460	Distal muscle weakness
OMIM:202010	CYP11B1	1584	HP:0000007	Autosomal recessive inheritance
OMIM:202010	CYP11B1	1584	HP:0000040	Long penis
OMIM:202010	CYP11B1	1584	HP:0008726	Hypoplasia of the vagina
OMIM:202010	CYP11B1	1584	HP:0000013	Hypoplasia of the uterus
OMIM:202010	CYP11B1	1584	HP:0008665	Clitoral hypertrophy
OMIM:202010	CYP11B1	1584	HP:0008734	Decreased testicular size
OMIM:202010	CYP11B1	1584	HP:0002900	Hypokalemia
OMIM:202010	CYP11B1	1584	HP:0008185	Precocious puberty in males
OMIM:202010	CYP11B1	1584	HP:0008258	Congenital adrenal hyperplasia
OMIM:202010	CYP11B1	1584	HP:0003351	Decreased circulating renin level
OMIM:202010	CYP11B1	1584	HP:0003623	Neonatal onset
OMIM:202010	CYP11B1	1584	HP:0004319	Decreased circulating aldosterone level
OMIM:202010	CYP11B1	1584	HP:0000061	Ambiguous genitalia, female
OMIM:202010	CYP11B1	1584	HP:0005616	Accelerated skeletal maturation
OMIM:202010	CYP11B1	1584	HP:0000079	Abnormality of the urinary system
OMIM:202010	CYP11B1	1584	HP:0000840	Adrenogenital syndrome
OMIM:202010	CYP11B1	1584	HP:0000822	Hypertension
OMIM:202010	CYP11B1	1584	HP:0000953	Hyperpigmentation of the skin
OMIM:202010	CYP11B1	1584	HP:0004322	Short stature
OMIM:610738	HAX1	10456	HP:0003593	Infantile onset
OMIM:610738	HAX1	10456	HP:0002718	Recurrent bacterial infections
OMIM:610738	HAX1	10456	HP:0000007	Autosomal recessive inheritance
OMIM:610738	HAX1	10456	HP:0002863	Myelodysplasia
OMIM:610738	HAX1	10456	HP:0001909	Leukemia
OMIM:610738	HAX1	10456	HP:0001875	Neutropenia
OMIM:614946	FARS2	10667	HP:0001522	Death in infancy
OMIM:614946	FARS2	10667	HP:0002353	EEG abnormality
OMIM:614946	FARS2	10667	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:614946	FARS2	10667	HP:0001250	Seizures
OMIM:614946	FARS2	10667	HP:0011968	Feeding difficulties
OMIM:614946	FARS2	10667	HP:0002151	Increased serum lactate
OMIM:614946	FARS2	10667	HP:0000252	Microcephaly
OMIM:614946	FARS2	10667	HP:0003828	Variable expressivity
OMIM:614946	FARS2	10667	HP:0001510	Growth delay
OMIM:614946	FARS2	10667	HP:0002119	Ventriculomegaly
OMIM:614946	FARS2	10667	HP:0003128	Lactic acidosis
OMIM:614946	FARS2	10667	HP:0001272	Cerebellar atrophy
OMIM:614946	FARS2	10667	HP:0001263	Global developmental delay
OMIM:614946	FARS2	10667	HP:0002059	Cerebral atrophy
OMIM:614946	FARS2	10667	HP:0002171	Gliosis
OMIM:614946	FARS2	10667	HP:0001336	Myoclonus
OMIM:614946	FARS2	10667	HP:0001290	Generalized hypotonia
OMIM:614946	FARS2	10667	HP:0000007	Autosomal recessive inheritance
ORPHA:312	KRT10	3858	HP:0008066	Abnormal blistering of the skin
ORPHA:312	KRT10	3858	HP:0001019	Erythroderma
ORPHA:312	KRT10	3858	HP:0001824	Weight loss
ORPHA:312	KRT10	3858	HP:0007475	Congenital bullous ichthyosiform erythroderma
ORPHA:312	KRT10	3858	HP:0000992	Cutaneous photosensitivity
ORPHA:312	KRT10	3858	HP:0004396	Poor appetite
ORPHA:312	KRT1	3848	HP:0008066	Abnormal blistering of the skin
ORPHA:312	KRT1	3848	HP:0001019	Erythroderma
ORPHA:312	KRT1	3848	HP:0001824	Weight loss
ORPHA:312	KRT1	3848	HP:0007475	Congenital bullous ichthyosiform erythroderma
ORPHA:312	KRT1	3848	HP:0000992	Cutaneous photosensitivity
ORPHA:312	KRT1	3848	HP:0004396	Poor appetite
OMIM:615440	ELAC2	60528	HP:0001263	Global developmental delay
OMIM:615440	ELAC2	60528	HP:0001290	Generalized hypotonia
OMIM:615440	ELAC2	60528	HP:0001508	Failure to thrive
OMIM:615440	ELAC2	60528	HP:0001635	Congestive heart failure
OMIM:615440	ELAC2	60528	HP:0000007	Autosomal recessive inheritance
OMIM:615440	ELAC2	60528	HP:0001510	Growth delay
OMIM:615440	ELAC2	60528	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615440	ELAC2	60528	HP:0003128	Lactic acidosis
OMIM:605911	HMGCS2	3158	HP:0000007	Autosomal recessive inheritance
OMIM:605911	HMGCS2	3158	HP:0002240	Hepatomegaly
OMIM:605911	HMGCS2	3158	HP:0002014	Diarrhea
OMIM:605911	HMGCS2	3158	HP:0002013	Vomiting
ORPHA:251056	ARID1B	57492	HP:0000316	Hypertelorism
ORPHA:251056	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:251056	ARID1B	57492	HP:0004322	Short stature
ORPHA:251056	ARID1B	57492	HP:0000504	Abnormality of vision
ORPHA:251056	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
ORPHA:251056	ARID1B	57492	HP:0001256	Intellectual disability, mild
ORPHA:251056	ARID1B	57492	HP:0000286	Epicanthus
ORPHA:251056	ARID1B	57492	HP:0000377	Abnormality of the pinna
ORPHA:251056	ARID1B	57492	HP:0001508	Failure to thrive
ORPHA:251056	ARID1B	57492	HP:0000218	High palate
ORPHA:251056	ARID1B	57492	HP:0000431	Wide nasal bridge
ORPHA:251056	ARID1B	57492	HP:0000272	Malar flattening
ORPHA:251056	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:251056	ARID1B	57492	HP:0001357	Plagiocephaly
ORPHA:251056	ARID1B	57492	HP:0001274	Agenesis of corpus callosum
ORPHA:251056	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:251056	ARID1B	57492	HP:0000407	Sensorineural hearing impairment
OMIM:600072	PRNP	5621	HP:0000016	Urinary retention
OMIM:600072	PRNP	5621	HP:0002459	Dysautonomia
OMIM:600072	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:600072	PRNP	5621	HP:0001260	Dysarthria
OMIM:600072	PRNP	5621	HP:0002529	Neuronal loss in central nervous system
OMIM:600072	PRNP	5621	HP:0000651	Diplopia
OMIM:600072	PRNP	5621	HP:0001945	Fever
OMIM:600072	PRNP	5621	HP:0000975	Hyperhidrosis
OMIM:600072	PRNP	5621	HP:0001336	Myoclonus
OMIM:600072	PRNP	5621	HP:0002019	Constipation
OMIM:600072	PRNP	5621	HP:0002015	Dysphagia
OMIM:600072	PRNP	5621	HP:0003581	Adult onset
OMIM:600072	PRNP	5621	HP:0001824	Weight loss
OMIM:600072	PRNP	5621	HP:0002104	Apnea
OMIM:600072	PRNP	5621	HP:0100785	Insomnia
OMIM:600072	PRNP	5621	HP:0000726	Dementia
OMIM:600072	PRNP	5621	HP:0011463	Childhood onset
OMIM:600072	PRNP	5621	HP:0001251	Ataxia
OMIM:117300	ITM2B	9445	HP:0000365	Hearing impairment
OMIM:117300	ITM2B	9445	HP:0001115	Posterior polar cataract
OMIM:117300	ITM2B	9445	HP:0002185	Neurofibrillary tangles
OMIM:117300	ITM2B	9445	HP:0000726	Dementia
OMIM:117300	ITM2B	9445	HP:0001257	Spasticity
OMIM:117300	ITM2B	9445	HP:0000006	Autosomal dominant inheritance
OMIM:117300	ITM2B	9445	HP:0000709	Psychosis
OMIM:117300	ITM2B	9445	HP:0011970	Cerebral amyloid angiopathy
OMIM:117300	ITM2B	9445	HP:0001251	Ataxia
OMIM:117300	ITM2B	9445	HP:0002080	Intention tremor
OMIM:231200	GP1BA	2811	HP:0001438	Abnormality of abdomen morphology
OMIM:231200	GP1BA	2811	HP:0001892	Abnormal bleeding
OMIM:231200	GP1BA	2811	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP1BA	2811	HP:0003010	Prolonged bleeding time
OMIM:231200	GP1BA	2811	HP:0000421	Epistaxis
OMIM:231200	GP1BA	2811	HP:0000979	Purpura
OMIM:231200	GP1BA	2811	HP:0001873	Thrombocytopenia
OMIM:231200	GP1BA	2811	HP:0011877	Increased mean platelet volume
OMIM:231200	GP1BA	2811	HP:0000132	Menorrhagia
OMIM:231200	GP1BB	2812	HP:0001438	Abnormality of abdomen morphology
OMIM:231200	GP1BB	2812	HP:0001892	Abnormal bleeding
OMIM:231200	GP1BB	2812	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP1BB	2812	HP:0003010	Prolonged bleeding time
OMIM:231200	GP1BB	2812	HP:0000421	Epistaxis
OMIM:231200	GP1BB	2812	HP:0000979	Purpura
OMIM:231200	GP1BB	2812	HP:0001873	Thrombocytopenia
OMIM:231200	GP1BB	2812	HP:0011877	Increased mean platelet volume
OMIM:231200	GP1BB	2812	HP:0000132	Menorrhagia
OMIM:231200	GP9	2815	HP:0001438	Abnormality of abdomen morphology
OMIM:231200	GP9	2815	HP:0001892	Abnormal bleeding
OMIM:231200	GP9	2815	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP9	2815	HP:0003010	Prolonged bleeding time
OMIM:231200	GP9	2815	HP:0000421	Epistaxis
OMIM:231200	GP9	2815	HP:0000979	Purpura
OMIM:231200	GP9	2815	HP:0001873	Thrombocytopenia
OMIM:231200	GP9	2815	HP:0011877	Increased mean platelet volume
OMIM:231200	GP9	2815	HP:0000132	Menorrhagia
ORPHA:652	CDKN1A	1026	HP:0001031	Subcutaneous lipoma
ORPHA:652	CDKN1A	1026	HP:0002574	Episodic abdominal pain
ORPHA:652	CDKN1A	1026	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:652	CDKN1A	1026	HP:0008208	Parathyroid hyperplasia
ORPHA:652	CDKN1A	1026	HP:0004398	Peptic ulcer
ORPHA:652	CDKN1A	1026	HP:0003072	Hypercalcemia
ORPHA:652	CDKN1A	1026	HP:0100633	Esophagitis
ORPHA:652	CDKN1A	1026	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:652	CDKN1A	1026	HP:0008256	Adrenocortical adenoma
ORPHA:652	CDKN1A	1026	HP:0002044	Zollinger-Ellison syndrome
ORPHA:652	CDKN1A	1026	HP:0008283	Fasting hyperinsulinemia
ORPHA:652	CDKN1A	1026	HP:0011761	Pituitary null cell adenoma
ORPHA:652	CDKN1A	1026	HP:0002014	Diarrhea
ORPHA:652	CDKN1A	1026	HP:0000843	Hyperparathyroidism
ORPHA:652	CDKN1A	1026	HP:0002897	Parathyroid adenoma
ORPHA:652	CDKN1A	1026	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:652	CDKN1A	1026	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:652	CDKN1A	1026	HP:0000845	Growth hormone excess
ORPHA:652	CDKN1A	1026	HP:0000854	Thyroid adenoma
ORPHA:652	CDKN1A	1026	HP:0012197	Insulinoma
ORPHA:652	CDKN1A	1026	HP:0010615	Angiofibromas
ORPHA:652	CDKN1B	1027	HP:0001031	Subcutaneous lipoma
ORPHA:652	CDKN1B	1027	HP:0002574	Episodic abdominal pain
ORPHA:652	CDKN1B	1027	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:652	CDKN1B	1027	HP:0008208	Parathyroid hyperplasia
ORPHA:652	CDKN1B	1027	HP:0004398	Peptic ulcer
ORPHA:652	CDKN1B	1027	HP:0003072	Hypercalcemia
ORPHA:652	CDKN1B	1027	HP:0100633	Esophagitis
ORPHA:652	CDKN1B	1027	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:652	CDKN1B	1027	HP:0008256	Adrenocortical adenoma
ORPHA:652	CDKN1B	1027	HP:0002044	Zollinger-Ellison syndrome
ORPHA:652	CDKN1B	1027	HP:0008283	Fasting hyperinsulinemia
ORPHA:652	CDKN1B	1027	HP:0011761	Pituitary null cell adenoma
ORPHA:652	CDKN1B	1027	HP:0002014	Diarrhea
ORPHA:652	CDKN1B	1027	HP:0000843	Hyperparathyroidism
ORPHA:652	CDKN1B	1027	HP:0002897	Parathyroid adenoma
ORPHA:652	CDKN1B	1027	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:652	CDKN1B	1027	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:652	CDKN1B	1027	HP:0000845	Growth hormone excess
ORPHA:652	CDKN1B	1027	HP:0000854	Thyroid adenoma
ORPHA:652	CDKN1B	1027	HP:0012197	Insulinoma
ORPHA:652	CDKN1B	1027	HP:0010615	Angiofibromas
ORPHA:652	CDKN2B	1030	HP:0001031	Subcutaneous lipoma
ORPHA:652	CDKN2B	1030	HP:0002574	Episodic abdominal pain
ORPHA:652	CDKN2B	1030	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:652	CDKN2B	1030	HP:0008208	Parathyroid hyperplasia
ORPHA:652	CDKN2B	1030	HP:0004398	Peptic ulcer
ORPHA:652	CDKN2B	1030	HP:0003072	Hypercalcemia
ORPHA:652	CDKN2B	1030	HP:0100633	Esophagitis
ORPHA:652	CDKN2B	1030	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:652	CDKN2B	1030	HP:0008256	Adrenocortical adenoma
ORPHA:652	CDKN2B	1030	HP:0002044	Zollinger-Ellison syndrome
ORPHA:652	CDKN2B	1030	HP:0008283	Fasting hyperinsulinemia
ORPHA:652	CDKN2B	1030	HP:0011761	Pituitary null cell adenoma
ORPHA:652	CDKN2B	1030	HP:0002014	Diarrhea
ORPHA:652	CDKN2B	1030	HP:0000843	Hyperparathyroidism
ORPHA:652	CDKN2B	1030	HP:0002897	Parathyroid adenoma
ORPHA:652	CDKN2B	1030	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:652	CDKN2B	1030	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:652	CDKN2B	1030	HP:0000845	Growth hormone excess
ORPHA:652	CDKN2B	1030	HP:0000854	Thyroid adenoma
ORPHA:652	CDKN2B	1030	HP:0012197	Insulinoma
ORPHA:652	CDKN2B	1030	HP:0010615	Angiofibromas
ORPHA:652	CDKN2C	1031	HP:0001031	Subcutaneous lipoma
ORPHA:652	CDKN2C	1031	HP:0002574	Episodic abdominal pain
ORPHA:652	CDKN2C	1031	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:652	CDKN2C	1031	HP:0008208	Parathyroid hyperplasia
ORPHA:652	CDKN2C	1031	HP:0004398	Peptic ulcer
ORPHA:652	CDKN2C	1031	HP:0003072	Hypercalcemia
ORPHA:652	CDKN2C	1031	HP:0100633	Esophagitis
ORPHA:652	CDKN2C	1031	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:652	CDKN2C	1031	HP:0008256	Adrenocortical adenoma
ORPHA:652	CDKN2C	1031	HP:0002044	Zollinger-Ellison syndrome
ORPHA:652	CDKN2C	1031	HP:0008283	Fasting hyperinsulinemia
ORPHA:652	CDKN2C	1031	HP:0011761	Pituitary null cell adenoma
ORPHA:652	CDKN2C	1031	HP:0002014	Diarrhea
ORPHA:652	CDKN2C	1031	HP:0000843	Hyperparathyroidism
ORPHA:652	CDKN2C	1031	HP:0002897	Parathyroid adenoma
ORPHA:652	CDKN2C	1031	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:652	CDKN2C	1031	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:652	CDKN2C	1031	HP:0000845	Growth hormone excess
ORPHA:652	CDKN2C	1031	HP:0000854	Thyroid adenoma
ORPHA:652	CDKN2C	1031	HP:0012197	Insulinoma
ORPHA:652	CDKN2C	1031	HP:0010615	Angiofibromas
ORPHA:652	MEN1	4221	HP:0001031	Subcutaneous lipoma
ORPHA:652	MEN1	4221	HP:0002574	Episodic abdominal pain
ORPHA:652	MEN1	4221	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:652	MEN1	4221	HP:0008208	Parathyroid hyperplasia
ORPHA:652	MEN1	4221	HP:0004398	Peptic ulcer
ORPHA:652	MEN1	4221	HP:0003072	Hypercalcemia
ORPHA:652	MEN1	4221	HP:0100633	Esophagitis
ORPHA:652	MEN1	4221	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:652	MEN1	4221	HP:0008256	Adrenocortical adenoma
ORPHA:652	MEN1	4221	HP:0002044	Zollinger-Ellison syndrome
ORPHA:652	MEN1	4221	HP:0008283	Fasting hyperinsulinemia
ORPHA:652	MEN1	4221	HP:0011761	Pituitary null cell adenoma
ORPHA:652	MEN1	4221	HP:0002014	Diarrhea
ORPHA:652	MEN1	4221	HP:0000843	Hyperparathyroidism
ORPHA:652	MEN1	4221	HP:0002897	Parathyroid adenoma
ORPHA:652	MEN1	4221	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:652	MEN1	4221	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:652	MEN1	4221	HP:0000845	Growth hormone excess
ORPHA:652	MEN1	4221	HP:0000854	Thyroid adenoma
ORPHA:652	MEN1	4221	HP:0012197	Insulinoma
ORPHA:652	MEN1	4221	HP:0010615	Angiofibromas
OMIM:615934	TMEM173	340061	HP:0001945	Fever
OMIM:615934	TMEM173	340061	HP:0010702	Increased antibody level in blood
OMIM:615934	TMEM173	340061	HP:0010783	Erythema
OMIM:615934	TMEM173	340061	HP:0001903	Anemia
OMIM:615934	TMEM173	340061	HP:0001882	Leukopenia
OMIM:615934	TMEM173	340061	HP:0002205	Recurrent respiratory infections
OMIM:615934	TMEM173	340061	HP:0001894	Thrombocytosis
OMIM:615934	TMEM173	340061	HP:0025300	Malar rash
OMIM:615934	TMEM173	340061	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:615934	TMEM173	340061	HP:0002729	Follicular hyperplasia
OMIM:615934	TMEM173	340061	HP:0008404	Nail dystrophy
OMIM:615934	TMEM173	340061	HP:0003623	Neonatal onset
OMIM:615934	TMEM173	340061	HP:0001009	Telangiectasia
OMIM:615934	TMEM173	340061	HP:0001510	Growth delay
OMIM:615934	TMEM173	340061	HP:0001508	Failure to thrive
OMIM:615934	TMEM173	340061	HP:0006530	Interstitial pulmonary abnormality
OMIM:615934	TMEM173	340061	HP:0000006	Autosomal dominant inheritance
OMIM:615934	TMEM173	340061	HP:0000965	Cutis marmorata
OMIM:615934	TMEM173	340061	HP:0200039	Pustule
OMIM:615934	TMEM173	340061	HP:0003828	Variable expressivity
OMIM:608758	MYL2	4633	HP:0002094	Dyspnea
OMIM:608758	MYL2	4633	HP:0001962	Palpitations
OMIM:608758	MYL2	4633	HP:0000006	Autosomal dominant inheritance
OMIM:608758	MYL2	4633	HP:0100749	Chest pain
OMIM:608758	MYL2	4633	HP:0002321	Vertigo
OMIM:608758	MYL2	4633	HP:0001670	Asymmetric septal hypertrophy
OMIM:608758	MYL2	4633	HP:0004756	Ventricular tachycardia
OMIM:608758	MYL2	4633	HP:0005144	Left ventricular septal hypertrophy
OMIM:608758	MYL2	4633	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:90045	SLC46A1	113235	HP:0001889	Megaloblastic anemia
ORPHA:90045	SLC46A1	113235	HP:0009830	Peripheral neuropathy
ORPHA:90045	SLC46A1	113235	HP:0100022	Abnormality of movement
ORPHA:90045	SLC46A1	113235	HP:0001263	Global developmental delay
ORPHA:90045	SLC46A1	113235	HP:0000980	Pallor
ORPHA:90045	SLC46A1	113235	HP:0002014	Diarrhea
ORPHA:90045	SLC46A1	113235	HP:0100825	Cheilitis
ORPHA:90045	SLC46A1	113235	HP:0000206	Glossitis
ORPHA:90045	SLC46A1	113235	HP:0000708	Behavioral abnormality
ORPHA:90045	SLC46A1	113235	HP:0001250	Seizures
ORPHA:90045	SLC46A1	113235	HP:0001508	Failure to thrive
ORPHA:90045	SLC46A1	113235	HP:0002020	Gastroesophageal reflux
ORPHA:90045	SLC46A1	113235	HP:0004313	Decreased antibody level in blood
ORPHA:90045	SLC46A1	113235	HP:0002017	Nausea and vomiting
ORPHA:90045	SLC46A1	113235	HP:0002039	Anorexia
OMIM:129490	EDAR	10913	HP:0000535	Sparse and thin eyebrow
OMIM:129490	EDAR	10913	HP:0002164	Nail dysplasia
OMIM:129490	EDAR	10913	HP:0002213	Fine hair
OMIM:129490	EDAR	10913	HP:0000668	Hypodontia
OMIM:129490	EDAR	10913	HP:0000958	Dry skin
OMIM:129490	EDAR	10913	HP:0002046	Heat intolerance
OMIM:129490	EDAR	10913	HP:0002217	Slow-growing hair
OMIM:129490	EDAR	10913	HP:0000691	Microdontia
OMIM:129490	EDAR	10913	HP:0001006	Hypotrichosis
OMIM:129490	EDAR	10913	HP:0000674	Anodontia
OMIM:129490	EDAR	10913	HP:0000968	Ectodermal dysplasia
OMIM:129490	EDAR	10913	HP:0000653	Sparse eyelashes
OMIM:129490	EDAR	10913	HP:0001425	Heterogeneous
OMIM:129490	EDAR	10913	HP:0000006	Autosomal dominant inheritance
OMIM:129490	EDAR	10913	HP:0000966	Hypohidrosis
OMIM:129490	EDARADD	128178	HP:0000535	Sparse and thin eyebrow
OMIM:129490	EDARADD	128178	HP:0002164	Nail dysplasia
OMIM:129490	EDARADD	128178	HP:0002213	Fine hair
OMIM:129490	EDARADD	128178	HP:0000668	Hypodontia
OMIM:129490	EDARADD	128178	HP:0000958	Dry skin
OMIM:129490	EDARADD	128178	HP:0002046	Heat intolerance
OMIM:129490	EDARADD	128178	HP:0002217	Slow-growing hair
OMIM:129490	EDARADD	128178	HP:0000691	Microdontia
OMIM:129490	EDARADD	128178	HP:0001006	Hypotrichosis
OMIM:129490	EDARADD	128178	HP:0000674	Anodontia
OMIM:129490	EDARADD	128178	HP:0000968	Ectodermal dysplasia
OMIM:129490	EDARADD	128178	HP:0000653	Sparse eyelashes
OMIM:129490	EDARADD	128178	HP:0001425	Heterogeneous
OMIM:129490	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:129490	EDARADD	128178	HP:0000966	Hypohidrosis
ORPHA:3447	EZH2	2146	HP:0001769	Broad foot
ORPHA:3447	EZH2	2146	HP:0000343	Long philtrum
ORPHA:3447	EZH2	2146	HP:0000023	Inguinal hernia
ORPHA:3447	EZH2	2146	HP:0010300	Abnormally low-pitched voice
ORPHA:3447	EZH2	2146	HP:0001800	Hypoplastic toenails
ORPHA:3447	EZH2	2146	HP:0000278	Retrognathia
ORPHA:3447	EZH2	2146	HP:0005616	Accelerated skeletal maturation
ORPHA:3447	EZH2	2146	HP:0000347	Micrognathia
ORPHA:3447	EZH2	2146	HP:0001257	Spasticity
ORPHA:3447	EZH2	2146	HP:0011304	Broad thumb
ORPHA:3447	EZH2	2146	HP:0000256	Macrocephaly
ORPHA:3447	EZH2	2146	HP:0000337	Broad forehead
ORPHA:3447	EZH2	2146	HP:0001609	Hoarse voice
ORPHA:3447	EZH2	2146	HP:0001816	Thin nail
ORPHA:3447	EZH2	2146	HP:0002213	Fine hair
ORPHA:3447	EZH2	2146	HP:0000098	Tall stature
ORPHA:3447	EZH2	2146	HP:0001387	Joint stiffness
ORPHA:3447	EZH2	2146	HP:0001582	Redundant skin
ORPHA:3447	EZH2	2146	HP:0100490	Camptodactyly of finger
ORPHA:3447	EZH2	2146	HP:0008872	Feeding difficulties in infancy
ORPHA:3447	EZH2	2146	HP:0000400	Macrotia
ORPHA:3447	EZH2	2146	HP:0001231	Abnormality of the fingernails
ORPHA:3447	EZH2	2146	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:3447	EZH2	2146	HP:0001249	Intellectual disability
ORPHA:3447	EZH2	2146	HP:0002002	Deep philtrum
ORPHA:3447	EZH2	2146	HP:0000316	Hypertelorism
ORPHA:3447	EZH2	2146	HP:0001263	Global developmental delay
ORPHA:3447	EZH2	2146	HP:0000944	Abnormality of the metaphysis
ORPHA:3447	EZH2	2146	HP:0001814	Deep-set nails
ORPHA:3447	EZH2	2146	HP:0001176	Large hands
ORPHA:3447	EZH2	2146	HP:0000311	Round face
ORPHA:3447	NSD1	64324	HP:0001769	Broad foot
ORPHA:3447	NSD1	64324	HP:0000343	Long philtrum
ORPHA:3447	NSD1	64324	HP:0000023	Inguinal hernia
ORPHA:3447	NSD1	64324	HP:0010300	Abnormally low-pitched voice
ORPHA:3447	NSD1	64324	HP:0001800	Hypoplastic toenails
ORPHA:3447	NSD1	64324	HP:0000278	Retrognathia
ORPHA:3447	NSD1	64324	HP:0005616	Accelerated skeletal maturation
ORPHA:3447	NSD1	64324	HP:0000347	Micrognathia
ORPHA:3447	NSD1	64324	HP:0001257	Spasticity
ORPHA:3447	NSD1	64324	HP:0011304	Broad thumb
ORPHA:3447	NSD1	64324	HP:0000256	Macrocephaly
ORPHA:3447	NSD1	64324	HP:0000337	Broad forehead
ORPHA:3447	NSD1	64324	HP:0001609	Hoarse voice
ORPHA:3447	NSD1	64324	HP:0001816	Thin nail
ORPHA:3447	NSD1	64324	HP:0002213	Fine hair
ORPHA:3447	NSD1	64324	HP:0000098	Tall stature
ORPHA:3447	NSD1	64324	HP:0001387	Joint stiffness
ORPHA:3447	NSD1	64324	HP:0001582	Redundant skin
ORPHA:3447	NSD1	64324	HP:0100490	Camptodactyly of finger
ORPHA:3447	NSD1	64324	HP:0008872	Feeding difficulties in infancy
ORPHA:3447	NSD1	64324	HP:0000400	Macrotia
ORPHA:3447	NSD1	64324	HP:0001231	Abnormality of the fingernails
ORPHA:3447	NSD1	64324	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:3447	NSD1	64324	HP:0001249	Intellectual disability
ORPHA:3447	NSD1	64324	HP:0002002	Deep philtrum
ORPHA:3447	NSD1	64324	HP:0000316	Hypertelorism
ORPHA:3447	NSD1	64324	HP:0001263	Global developmental delay
ORPHA:3447	NSD1	64324	HP:0000944	Abnormality of the metaphysis
ORPHA:3447	NSD1	64324	HP:0001814	Deep-set nails
ORPHA:3447	NSD1	64324	HP:0001176	Large hands
ORPHA:3447	NSD1	64324	HP:0000311	Round face
ORPHA:3447	EED	8726	HP:0001769	Broad foot
ORPHA:3447	EED	8726	HP:0000343	Long philtrum
ORPHA:3447	EED	8726	HP:0000023	Inguinal hernia
ORPHA:3447	EED	8726	HP:0010300	Abnormally low-pitched voice
ORPHA:3447	EED	8726	HP:0001800	Hypoplastic toenails
ORPHA:3447	EED	8726	HP:0000278	Retrognathia
ORPHA:3447	EED	8726	HP:0005616	Accelerated skeletal maturation
ORPHA:3447	EED	8726	HP:0000347	Micrognathia
ORPHA:3447	EED	8726	HP:0001257	Spasticity
ORPHA:3447	EED	8726	HP:0011304	Broad thumb
ORPHA:3447	EED	8726	HP:0000256	Macrocephaly
ORPHA:3447	EED	8726	HP:0000337	Broad forehead
ORPHA:3447	EED	8726	HP:0001609	Hoarse voice
ORPHA:3447	EED	8726	HP:0001816	Thin nail
ORPHA:3447	EED	8726	HP:0002213	Fine hair
ORPHA:3447	EED	8726	HP:0000098	Tall stature
ORPHA:3447	EED	8726	HP:0001387	Joint stiffness
ORPHA:3447	EED	8726	HP:0001582	Redundant skin
ORPHA:3447	EED	8726	HP:0100490	Camptodactyly of finger
ORPHA:3447	EED	8726	HP:0008872	Feeding difficulties in infancy
ORPHA:3447	EED	8726	HP:0000400	Macrotia
ORPHA:3447	EED	8726	HP:0001231	Abnormality of the fingernails
ORPHA:3447	EED	8726	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:3447	EED	8726	HP:0001249	Intellectual disability
ORPHA:3447	EED	8726	HP:0002002	Deep philtrum
ORPHA:3447	EED	8726	HP:0000316	Hypertelorism
ORPHA:3447	EED	8726	HP:0001263	Global developmental delay
ORPHA:3447	EED	8726	HP:0000944	Abnormality of the metaphysis
ORPHA:3447	EED	8726	HP:0001814	Deep-set nails
ORPHA:3447	EED	8726	HP:0001176	Large hands
ORPHA:3447	EED	8726	HP:0000311	Round face
ORPHA:3447	SUZ12	23512	HP:0001769	Broad foot
ORPHA:3447	SUZ12	23512	HP:0000343	Long philtrum
ORPHA:3447	SUZ12	23512	HP:0000023	Inguinal hernia
ORPHA:3447	SUZ12	23512	HP:0010300	Abnormally low-pitched voice
ORPHA:3447	SUZ12	23512	HP:0001800	Hypoplastic toenails
ORPHA:3447	SUZ12	23512	HP:0000278	Retrognathia
ORPHA:3447	SUZ12	23512	HP:0005616	Accelerated skeletal maturation
ORPHA:3447	SUZ12	23512	HP:0000347	Micrognathia
ORPHA:3447	SUZ12	23512	HP:0001257	Spasticity
ORPHA:3447	SUZ12	23512	HP:0011304	Broad thumb
ORPHA:3447	SUZ12	23512	HP:0000256	Macrocephaly
ORPHA:3447	SUZ12	23512	HP:0000337	Broad forehead
ORPHA:3447	SUZ12	23512	HP:0001609	Hoarse voice
ORPHA:3447	SUZ12	23512	HP:0001816	Thin nail
ORPHA:3447	SUZ12	23512	HP:0002213	Fine hair
ORPHA:3447	SUZ12	23512	HP:0000098	Tall stature
ORPHA:3447	SUZ12	23512	HP:0001387	Joint stiffness
ORPHA:3447	SUZ12	23512	HP:0001582	Redundant skin
ORPHA:3447	SUZ12	23512	HP:0100490	Camptodactyly of finger
ORPHA:3447	SUZ12	23512	HP:0008872	Feeding difficulties in infancy
ORPHA:3447	SUZ12	23512	HP:0000400	Macrotia
ORPHA:3447	SUZ12	23512	HP:0001231	Abnormality of the fingernails
ORPHA:3447	SUZ12	23512	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:3447	SUZ12	23512	HP:0001249	Intellectual disability
ORPHA:3447	SUZ12	23512	HP:0002002	Deep philtrum
ORPHA:3447	SUZ12	23512	HP:0000316	Hypertelorism
ORPHA:3447	SUZ12	23512	HP:0001263	Global developmental delay
ORPHA:3447	SUZ12	23512	HP:0000944	Abnormality of the metaphysis
ORPHA:3447	SUZ12	23512	HP:0001814	Deep-set nails
ORPHA:3447	SUZ12	23512	HP:0001176	Large hands
ORPHA:3447	SUZ12	23512	HP:0000311	Round face
OMIM:137550	NRAS	4893	HP:0002002	Deep philtrum
OMIM:137550	NRAS	4893	HP:0000418	Narrow nasal ridge
OMIM:137550	NRAS	4893	HP:0010759	Prominence of the premaxilla
OMIM:137550	NRAS	4893	HP:0011220	Prominent forehead
OMIM:137550	NRAS	4893	HP:0000293	Full cheeks
OMIM:137550	NRAS	4893	HP:0000232	Everted lower lip vermilion
OMIM:137550	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:137550	NRAS	4893	HP:0000194	Open mouth
OMIM:137550	NRAS	4893	HP:0012056	Cutaneous melanoma
OMIM:137550	NRAS	4893	HP:0000455	Broad nasal tip
OMIM:137550	NRAS	4893	HP:0003196	Short nose
OMIM:137550	NRAS	4893	HP:0000343	Long philtrum
OMIM:137550	NRAS	4893	HP:0000629	Periorbital fullness
OMIM:137550	NRAS	4893	HP:0005600	Congenital giant melanocytic nevus
OMIM:137550	NRAS	4893	HP:0000311	Round face
OMIM:137550	NRAS	4893	HP:0000337	Broad forehead
OMIM:137550	NRAS	4893	HP:0003577	Congenital onset
OMIM:612474	GJA5	2702	HP:0000252	Microcephaly
OMIM:612474	GJA5	2702	HP:0000717	Autism
OMIM:612474	GJA5	2702	HP:0001660	Truncus arteriosus
OMIM:612474	GJA5	2702	HP:0100753	Schizophrenia
OMIM:612474	GJA5	2702	HP:0001643	Patent ductus arteriosus
OMIM:612474	GJA5	2702	HP:0011304	Broad thumb
OMIM:612474	GJA5	2702	HP:0003829	Incomplete penetrance
OMIM:612474	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:612474	GJA5	2702	HP:0001669	Transposition of the great arteries
OMIM:612474	GJA5	2702	HP:0001249	Intellectual disability
OMIM:612474	GJA5	2702	HP:0010055	Broad hallux
OMIM:612474	GJA5	2702	HP:0001680	Coarctation of aorta
OMIM:612474	GJA5	2702	HP:0000414	Bulbous nose
OMIM:612474	GJA5	2702	HP:0003745	Sporadic
OMIM:612474	GJA5	2702	HP:0000490	Deeply set eye
OMIM:612474	GJA5	2702	HP:0002007	Frontal bossing
OMIM:612474	GJA8	2703	HP:0000252	Microcephaly
OMIM:612474	GJA8	2703	HP:0000717	Autism
OMIM:612474	GJA8	2703	HP:0001660	Truncus arteriosus
OMIM:612474	GJA8	2703	HP:0100753	Schizophrenia
OMIM:612474	GJA8	2703	HP:0001643	Patent ductus arteriosus
OMIM:612474	GJA8	2703	HP:0011304	Broad thumb
OMIM:612474	GJA8	2703	HP:0003829	Incomplete penetrance
OMIM:612474	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:612474	GJA8	2703	HP:0001669	Transposition of the great arteries
OMIM:612474	GJA8	2703	HP:0001249	Intellectual disability
OMIM:612474	GJA8	2703	HP:0010055	Broad hallux
OMIM:612474	GJA8	2703	HP:0001680	Coarctation of aorta
OMIM:612474	GJA8	2703	HP:0000414	Bulbous nose
OMIM:612474	GJA8	2703	HP:0003745	Sporadic
OMIM:612474	GJA8	2703	HP:0000490	Deeply set eye
OMIM:612474	GJA8	2703	HP:0002007	Frontal bossing
OMIM:613163	ABAT	18	HP:0001321	Cerebellar hypoplasia
OMIM:613163	ABAT	18	HP:0000098	Tall stature
OMIM:613163	ABAT	18	HP:0001254	Lethargy
OMIM:613163	ABAT	18	HP:0006829	Severe muscular hypotonia
OMIM:613163	ABAT	18	HP:0002415	Leukodystrophy
OMIM:613163	ABAT	18	HP:0001263	Global developmental delay
OMIM:613163	ABAT	18	HP:0007291	Posterior fossa cyst
OMIM:613163	ABAT	18	HP:0001274	Agenesis of corpus callosum
OMIM:613163	ABAT	18	HP:0000494	Downslanted palpebral fissures
OMIM:613163	ABAT	18	HP:0003819	Death in childhood
OMIM:613163	ABAT	18	HP:0025430	High-pitched cry
OMIM:613163	ABAT	18	HP:0000007	Autosomal recessive inheritance
OMIM:613163	ABAT	18	HP:0000278	Retrognathia
OMIM:613163	ABAT	18	HP:0001250	Seizures
OMIM:613163	ABAT	18	HP:0001347	Hyperreflexia
ORPHA:731	PKHD1	5314	HP:0000400	Macrotia
ORPHA:731	PKHD1	5314	HP:0001080	Biliary tract abnormality
ORPHA:731	PKHD1	5314	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:731	PKHD1	5314	HP:0000347	Micrognathia
ORPHA:731	PKHD1	5314	HP:0000457	Depressed nasal ridge
ORPHA:731	PKHD1	5314	HP:0005562	Multiple renal cysts
ORPHA:731	PKHD1	5314	HP:0001407	Hepatic cysts
ORPHA:731	PKHD1	5314	HP:0100720	Hypoplasia of the ear cartilage
ORPHA:731	PKHD1	5314	HP:0000083	Renal insufficiency
ORPHA:731	PKHD1	5314	HP:0001737	Pancreatic cysts
ORPHA:731	PKHD1	5314	HP:0002093	Respiratory insufficiency
ORPHA:731	PKHD1	5314	HP:0008678	Renal hypoplasia/aplasia
ORPHA:731	PKHD1	5314	HP:0002612	Congenital hepatic fibrosis
ORPHA:731	DZIP1L	199221	HP:0000400	Macrotia
ORPHA:731	DZIP1L	199221	HP:0001080	Biliary tract abnormality
ORPHA:731	DZIP1L	199221	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:731	DZIP1L	199221	HP:0000347	Micrognathia
ORPHA:731	DZIP1L	199221	HP:0000457	Depressed nasal ridge
ORPHA:731	DZIP1L	199221	HP:0005562	Multiple renal cysts
ORPHA:731	DZIP1L	199221	HP:0001407	Hepatic cysts
ORPHA:731	DZIP1L	199221	HP:0100720	Hypoplasia of the ear cartilage
ORPHA:731	DZIP1L	199221	HP:0000083	Renal insufficiency
ORPHA:731	DZIP1L	199221	HP:0001737	Pancreatic cysts
ORPHA:731	DZIP1L	199221	HP:0002093	Respiratory insufficiency
ORPHA:731	DZIP1L	199221	HP:0008678	Renal hypoplasia/aplasia
ORPHA:731	DZIP1L	199221	HP:0002612	Congenital hepatic fibrosis
OMIM:606744	RBBP8	5932	HP:0011342	Mild global developmental delay
OMIM:606744	RBBP8	5932	HP:0001518	Small for gestational age
OMIM:606744	RBBP8	5932	HP:0030148	Heart murmur
OMIM:606744	RBBP8	5932	HP:0001510	Growth delay
OMIM:606744	RBBP8	5932	HP:0000568	Microphthalmia
OMIM:606744	RBBP8	5932	HP:0000347	Micrognathia
OMIM:606744	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:606744	RBBP8	5932	HP:0000448	Prominent nose
OMIM:606744	RBBP8	5932	HP:0007429	Few cafe-au-lait spots
OMIM:606744	RBBP8	5932	HP:0000047	Hypospadias
OMIM:606744	RBBP8	5932	HP:0000171	Microglossia
OMIM:606744	RBBP8	5932	HP:0000691	Microdontia
OMIM:606744	RBBP8	5932	HP:0000252	Microcephaly
OMIM:606744	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	RBBP8	5932	HP:0001321	Cerebellar hypoplasia
OMIM:606744	RBBP8	5932	HP:0000341	Narrow forehead
OMIM:312863	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:312863	IL2RG	3561	HP:0005387	Combined immunodeficiency
OMIM:312863	IL2RG	3561	HP:0002090	Pneumonia
OMIM:312863	IL2RG	3561	HP:0004315	IgG deficiency
OMIM:312863	IL2RG	3561	HP:0000246	Sinusitis
OMIM:312863	IL2RG	3561	HP:0002837	Recurrent bronchitis
OMIM:312863	IL2RG	3561	HP:0000388	Otitis media
OMIM:312863	IL2RG	3561	HP:0005415	Decreased number of CD8+ T cells
OMIM:312863	IL2RG	3561	HP:0005407	Decreased number of CD4+ T cells
ORPHA:46348	SCN10A	6336	HP:0001250	Seizures
ORPHA:46348	SCN10A	6336	HP:0002019	Constipation
ORPHA:46348	SCN11A	11280	HP:0001250	Seizures
ORPHA:46348	SCN11A	11280	HP:0002019	Constipation
ORPHA:46348	SCN9A	6335	HP:0001250	Seizures
ORPHA:46348	SCN9A	6335	HP:0002019	Constipation
OMIM:614116	DNMT1	1786	HP:0000763	Sensory neuropathy
OMIM:614116	DNMT1	1786	HP:0002059	Cerebral atrophy
OMIM:614116	DNMT1	1786	HP:0002754	Osteomyelitis
OMIM:614116	DNMT1	1786	HP:0000737	Irritability
OMIM:614116	DNMT1	1786	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:614116	DNMT1	1786	HP:0002354	Memory impairment
OMIM:614116	DNMT1	1786	HP:0100710	Impulsivity
OMIM:614116	DNMT1	1786	HP:0000006	Autosomal dominant inheritance
OMIM:614116	DNMT1	1786	HP:0001262	Excessive daytime somnolence
OMIM:614116	DNMT1	1786	HP:0001265	Hyporeflexia
OMIM:614116	DNMT1	1786	HP:0000407	Sensorineural hearing impairment
OMIM:614116	DNMT1	1786	HP:0000741	Apathy
OMIM:614116	DNMT1	1786	HP:0003676	Progressive
OMIM:614116	DNMT1	1786	HP:0000726	Dementia
OMIM:607595	COL4A1	1282	HP:0001269	Hemiparesis
OMIM:607595	COL4A1	1282	HP:0000622	Blurred vision
OMIM:607595	COL4A1	1282	HP:0006859	Posterior leukoencephalopathy
OMIM:607595	COL4A1	1282	HP:0000575	Scotoma
OMIM:607595	COL4A1	1282	HP:0007894	Hypopigmentation of the fundus
OMIM:607595	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:607595	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:607595	COL4A1	1282	HP:0002077	Migraine with aura
ORPHA:33355	AK2	204	HP:0004313	Decreased antibody level in blood
ORPHA:33355	AK2	204	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHA:33355	AK2	204	HP:0001903	Anemia
ORPHA:33355	AK2	204	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:33355	AK2	204	HP:0002024	Malabsorption
ORPHA:33355	AK2	204	HP:0001882	Leukopenia
ORPHA:33355	AK2	204	HP:0005374	Cellular immunodeficiency
ORPHA:33355	AK2	204	HP:0002014	Diarrhea
ORPHA:33355	AK2	204	HP:0002205	Recurrent respiratory infections
ORPHA:33355	AK2	204	HP:0001824	Weight loss
ORPHA:33355	AK2	204	HP:0004430	Severe combined immunodeficiency
ORPHA:33355	AK2	204	HP:0001508	Failure to thrive
ORPHA:33355	AK2	204	HP:0100806	Sepsis
ORPHA:33355	AK2	204	HP:0000365	Hearing impairment
ORPHA:33355	AK2	204	HP:0000389	Chronic otitis media
ORPHA:33355	AK2	204	HP:0001945	Fever
ORPHA:33355	AK2	204	HP:0001874	Abnormality of neutrophils
OMIM:609016	HADHA	3030	HP:0002240	Hepatomegaly
OMIM:609016	HADHA	3030	HP:0001943	Hypoglycemia
OMIM:609016	HADHA	3030	HP:0001252	Muscular hypotonia
OMIM:609016	HADHA	3030	HP:0000580	Pigmentary retinopathy
OMIM:609016	HADHA	3030	HP:0001638	Cardiomyopathy
OMIM:609016	HADHA	3030	HP:0100950	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
OMIM:609016	HADHA	3030	HP:0001699	Sudden death
OMIM:300707	CCNQ	92002	HP:0000460	Narrow nose
OMIM:300707	CCNQ	92002	HP:0001647	Bicuspid aortic valve
OMIM:300707	CCNQ	92002	HP:0000455	Broad nasal tip
OMIM:300707	CCNQ	92002	HP:0001770	Toe syndactyly
OMIM:300707	CCNQ	92002	HP:0002025	Anal stenosis
OMIM:300707	CCNQ	92002	HP:0004209	Clinodactyly of the 5th finger
OMIM:300707	CCNQ	92002	HP:0000066	Labial hypoplasia
OMIM:300707	CCNQ	92002	HP:0000143	Rectovaginal fistula
OMIM:300707	CCNQ	92002	HP:0004322	Short stature
OMIM:300707	CCNQ	92002	HP:0000219	Thin upper lip vermilion
OMIM:300707	CCNQ	92002	HP:0001423	X-linked dominant inheritance
OMIM:300707	CCNQ	92002	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:300707	CCNQ	92002	HP:0001518	Small for gestational age
OMIM:300707	CCNQ	92002	HP:0008665	Clitoral hypertrophy
OMIM:300707	CCNQ	92002	HP:0000076	Vesicoureteral reflux
OMIM:300707	CCNQ	92002	HP:0000125	Pelvic kidney
OMIM:300707	CCNQ	92002	HP:0000813	Bicornuate uterus
OMIM:300707	CCNQ	92002	HP:0001511	Intrauterine growth retardation
OMIM:611521	TYK2	7297	HP:0002721	Immunodeficiency
OMIM:611521	TYK2	7297	HP:0000007	Autosomal recessive inheritance
OMIM:611521	TYK2	7297	HP:0003212	Increased IgE level
OMIM:611521	TYK2	7297	HP:0002205	Recurrent respiratory infections
OMIM:611521	TYK2	7297	HP:0011274	Recurrent mycobacterial infections
OMIM:611521	TYK2	7297	HP:0004429	Recurrent viral infections
OMIM:611521	TYK2	7297	HP:0002841	Recurrent fungal infections
ORPHA:228384	MEF2C	4208	HP:0000729	Autistic behavior
ORPHA:228384	MEF2C	4208	HP:0000733	Stereotypy
ORPHA:228384	MEF2C	4208	HP:0002119	Ventriculomegaly
ORPHA:228384	MEF2C	4208	HP:0000348	High forehead
ORPHA:228384	MEF2C	4208	HP:0000337	Broad forehead
ORPHA:228384	MEF2C	4208	HP:0000750	Delayed speech and language development
ORPHA:228384	MEF2C	4208	HP:0000582	Upslanted palpebral fissure
ORPHA:228384	MEF2C	4208	HP:0000322	Short philtrum
ORPHA:228384	MEF2C	4208	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:228384	MEF2C	4208	HP:0010864	Intellectual disability, severe
ORPHA:228384	MEF2C	4208	HP:0001250	Seizures
ORPHA:228384	MEF2C	4208	HP:0003196	Short nose
ORPHA:228384	MEF2C	4208	HP:0001252	Muscular hypotonia
OMIM:607323	SALL4	57167	HP:0010048	Aplasia of metacarpal bones
OMIM:607323	SALL4	57167	HP:0000542	Impaired ocular adduction
OMIM:607323	SALL4	57167	HP:0001159	Syndactyly
OMIM:607323	SALL4	57167	HP:0000324	Facial asymmetry
OMIM:607323	SALL4	57167	HP:0001739	Abnormality of the nasopharynx
OMIM:607323	SALL4	57167	HP:0001629	Ventricular septal defect
OMIM:607323	SALL4	57167	HP:0002023	Anal atresia
OMIM:607323	SALL4	57167	HP:0002650	Scoliosis
OMIM:607323	SALL4	57167	HP:0007766	Optic disc hypoplasia
OMIM:607323	SALL4	57167	HP:0000452	Choanal stenosis
OMIM:607323	SALL4	57167	HP:0010628	Facial palsy
OMIM:607323	SALL4	57167	HP:0003022	Hypoplasia of the ulna
OMIM:607323	SALL4	57167	HP:0003974	Absent radius
OMIM:607323	SALL4	57167	HP:0000407	Sensorineural hearing impairment
OMIM:607323	SALL4	57167	HP:0100258	Preaxial polydactyly
OMIM:607323	SALL4	57167	HP:0000634	Impaired ocular abduction
OMIM:607323	SALL4	57167	HP:0000126	Hydronephrosis
OMIM:607323	SALL4	57167	HP:0000568	Microphthalmia
OMIM:607323	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:607323	SALL4	57167	HP:0001763	Pes planus
OMIM:607323	SALL4	57167	HP:0000316	Hypertelorism
OMIM:607323	SALL4	57167	HP:0004736	Crossed fused renal ectopia
OMIM:607323	SALL4	57167	HP:0000480	Retinal coloboma
OMIM:607323	SALL4	57167	HP:0009777	Absent thumb
OMIM:607323	SALL4	57167	HP:0008998	Pectoralis hypoplasia
OMIM:607323	SALL4	57167	HP:0002025	Anal stenosis
OMIM:607323	SALL4	57167	HP:0000453	Choanal atresia
OMIM:607323	SALL4	57167	HP:0000619	Impaired convergence
OMIM:607323	SALL4	57167	HP:0000076	Vesicoureteral reflux
OMIM:607323	SALL4	57167	HP:0009778	Short thumb
OMIM:607323	SALL4	57167	HP:0009016	Upper limb muscle hypoplasia
OMIM:607323	SALL4	57167	HP:0001852	Sandal gap
OMIM:607323	SALL4	57167	HP:0009486	Radial deviation of the hand
OMIM:607323	SALL4	57167	HP:0005792	Short humerus
OMIM:607323	SALL4	57167	HP:0000661	Palpebral fissure narrowing on adduction
OMIM:607323	SALL4	57167	HP:0000612	Iris coloboma
OMIM:607323	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:607323	SALL4	57167	HP:0000518	Cataract
OMIM:607323	SALL4	57167	HP:0000089	Renal hypoplasia
OMIM:607323	SALL4	57167	HP:0001631	Atrial septal defect
OMIM:607323	SALL4	57167	HP:0000104	Renal agenesis
OMIM:607323	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:607323	SALL4	57167	HP:0004712	Renal malrotation
OMIM:607323	SALL4	57167	HP:0002949	Fused cervical vertebrae
OMIM:607323	SALL4	57167	HP:0003298	Spina bifida occulta
OMIM:607323	SALL4	57167	HP:0000085	Horseshoe kidney
OMIM:607323	SALL4	57167	HP:0002251	Aganglionic megacolon
OMIM:607323	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:607323	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:607323	SALL4	57167	HP:0009921	Duane anomaly
OMIM:607323	SALL4	57167	HP:0000286	Epicanthus
OMIM:607323	SALL4	57167	HP:0000487	Congenital strabismus
OMIM:265100	SLC34A2	10568	HP:0020034	Diffuse
OMIM:265100	SLC34A2	10568	HP:0006520	Progressive pulmonary function impairment
OMIM:265100	SLC34A2	10568	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:265100	SLC34A2	10568	HP:0000007	Autosomal recessive inheritance
OMIM:265100	SLC34A2	10568	HP:0006514	Intraalveolar nodular calcifications
OMIM:265100	SLC34A2	10568	HP:0003674	Onset
OMIM:265100	SLC34A2	10568	HP:0003677	Slow progression
OMIM:614293	KHDC3L	154288	HP:0000007	Autosomal recessive inheritance
OMIM:156550	COL2A1	1280	HP:0002779	Tracheomalacia
OMIM:156550	COL2A1	1280	HP:0001537	Umbilical hernia
OMIM:156550	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:156550	COL2A1	1280	HP:0002827	Hip dislocation
OMIM:156550	COL2A1	1280	HP:0003037	Enlarged joints
OMIM:156550	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
OMIM:156550	COL2A1	1280	HP:0000470	Short neck
OMIM:156550	COL2A1	1280	HP:0000405	Conductive hearing impairment
OMIM:156550	COL2A1	1280	HP:0002098	Respiratory distress
OMIM:156550	COL2A1	1280	HP:0001270	Motor delay
OMIM:156550	COL2A1	1280	HP:0000175	Cleft palate
OMIM:156550	COL2A1	1280	HP:0000311	Round face
OMIM:156550	COL2A1	1280	HP:0200003	Splayed epiphyses
OMIM:156550	COL2A1	1280	HP:0000545	Myopia
OMIM:156550	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:156550	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:156550	COL2A1	1280	HP:0003273	Hip contracture
OMIM:156550	COL2A1	1280	HP:0001288	Gait disturbance
OMIM:156550	COL2A1	1280	HP:0004619	Lumbar kyphoscoliosis
OMIM:156550	COL2A1	1280	HP:0011800	Midface retrusion
OMIM:156550	COL2A1	1280	HP:0002812	Coxa vara
OMIM:156550	COL2A1	1280	HP:0008271	Abnormal cartilage collagen
OMIM:156550	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:156550	COL2A1	1280	HP:0000947	Dumbbell-shaped long bone
OMIM:156550	COL2A1	1280	HP:0000023	Inguinal hernia
OMIM:156550	COL2A1	1280	HP:0000520	Proptosis
OMIM:156550	COL2A1	1280	HP:0000518	Cataract
OMIM:156550	COL2A1	1280	HP:0000403	Recurrent otitis media
OMIM:156550	COL2A1	1280	HP:0008839	Hypoplastic pelvis
OMIM:156550	COL2A1	1280	HP:0003015	Flared metaphysis
OMIM:156550	COL2A1	1280	HP:0000272	Malar flattening
OMIM:156550	COL2A1	1280	HP:0002663	Delayed epiphyseal ossification
OMIM:156550	COL2A1	1280	HP:0006172	Flattened, squared-off epiphyses of tubular bones
OMIM:156550	COL2A1	1280	HP:0003521	Disproportionate short-trunk short stature
ORPHA:158673	COL7A1	1294	HP:0001056	Milia
ORPHA:158673	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:158673	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:614594	TRPV3	162514	HP:0000006	Autosomal dominant inheritance
OMIM:614594	TRPV3	162514	HP:0002164	Nail dysplasia
OMIM:614594	TRPV3	162514	HP:0001371	Flexion contracture
OMIM:614594	TRPV3	162514	HP:0008392	Subungual hyperkeratosis
OMIM:614594	TRPV3	162514	HP:0001036	Parakeratosis
OMIM:614594	TRPV3	162514	HP:0000989	Pruritus
OMIM:614594	TRPV3	162514	HP:0008404	Nail dystrophy
OMIM:614594	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
OMIM:612291	ARL13B	200894	HP:0001249	Intellectual disability
OMIM:612291	ARL13B	200894	HP:0000580	Pigmentary retinopathy
OMIM:612291	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:612291	ARL13B	200894	HP:0000543	Optic disc pallor
OMIM:612291	ARL13B	200894	HP:0001290	Generalized hypotonia
OMIM:612291	ARL13B	200894	HP:0001251	Ataxia
OMIM:612291	ARL13B	200894	HP:0001513	Obesity
OMIM:612291	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:612291	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:612291	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:612291	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:601544	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601544	GJB2	2706	HP:0000006	Autosomal dominant inheritance
ORPHA:79320	ALG6	29929	HP:0001399	Hepatic failure
ORPHA:79320	ALG6	29929	HP:0001263	Global developmental delay
ORPHA:79320	ALG6	29929	HP:0001252	Muscular hypotonia
OMIM:615873	ADNP	23394	HP:0002719	Recurrent infections
OMIM:615873	ADNP	23394	HP:0000752	Hyperactivity
OMIM:615873	ADNP	23394	HP:0000319	Smooth philtrum
OMIM:615873	ADNP	23394	HP:0000431	Wide nasal bridge
OMIM:615873	ADNP	23394	HP:0011220	Prominent forehead
OMIM:615873	ADNP	23394	HP:0000540	Hypermetropia
OMIM:615873	ADNP	23394	HP:0000733	Stereotypy
OMIM:615873	ADNP	23394	HP:0000505	Visual impairment
OMIM:615873	ADNP	23394	HP:0200055	Small hand
OMIM:615873	ADNP	23394	HP:0000219	Thin upper lip vermilion
OMIM:615873	ADNP	23394	HP:0000006	Autosomal dominant inheritance
OMIM:615873	ADNP	23394	HP:0004322	Short stature
OMIM:615873	ADNP	23394	HP:0000494	Downslanted palpebral fissures
OMIM:615873	ADNP	23394	HP:0000625	Cleft eyelid
OMIM:615873	ADNP	23394	HP:0000729	Autistic behavior
OMIM:615873	ADNP	23394	HP:0003593	Infantile onset
OMIM:615873	ADNP	23394	HP:0001388	Joint laxity
OMIM:615873	ADNP	23394	HP:0002463	Language impairment
OMIM:615873	ADNP	23394	HP:0011968	Feeding difficulties
OMIM:615873	ADNP	23394	HP:0000508	Ptosis
OMIM:615873	ADNP	23394	HP:0000722	Obsessive-compulsive behavior
OMIM:615873	ADNP	23394	HP:0000486	Strabismus
OMIM:615873	ADNP	23394	HP:0001513	Obesity
OMIM:615873	ADNP	23394	HP:0003196	Short nose
OMIM:615873	ADNP	23394	HP:0001249	Intellectual disability
OMIM:615873	ADNP	23394	HP:0001263	Global developmental delay
OMIM:615873	ADNP	23394	HP:0001290	Generalized hypotonia
OMIM:151100	PTPN11	5781	HP:0012569	Delayed menarche
OMIM:151100	PTPN11	5781	HP:0000411	Protruding ear
OMIM:151100	PTPN11	5781	HP:0000286	Epicanthus
OMIM:151100	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:151100	PTPN11	5781	HP:0003298	Spina bifida occulta
OMIM:151100	PTPN11	5781	HP:0004322	Short stature
OMIM:151100	PTPN11	5781	HP:0000054	Micropenis
OMIM:151100	PTPN11	5781	HP:0002996	Limited elbow movement
OMIM:151100	PTPN11	5781	HP:0000358	Posteriorly rotated ears
OMIM:151100	PTPN11	5781	HP:0001256	Intellectual disability, mild
OMIM:151100	PTPN11	5781	HP:0002751	Kyphoscoliosis
OMIM:151100	PTPN11	5781	HP:0000486	Strabismus
OMIM:151100	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
OMIM:151100	PTPN11	5781	HP:0000508	Ptosis
OMIM:151100	PTPN11	5781	HP:0000957	Cafe-au-lait spot
OMIM:151100	PTPN11	5781	HP:0000767	Pectus excavatum
OMIM:151100	PTPN11	5781	HP:0011710	Bundle branch block
OMIM:151100	PTPN11	5781	HP:0000175	Cleft palate
OMIM:151100	PTPN11	5781	HP:0000369	Low-set ears
OMIM:151100	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:151100	PTPN11	5781	HP:0000768	Pectus carinatum
OMIM:151100	PTPN11	5781	HP:0001682	Subvalvular aortic stenosis
OMIM:151100	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:151100	PTPN11	5781	HP:0000470	Short neck
OMIM:151100	PTPN11	5781	HP:0000242	Parietal bossing
OMIM:151100	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:151100	PTPN11	5781	HP:0004409	Hyposmia
OMIM:151100	PTPN11	5781	HP:0000303	Mandibular prognathia
OMIM:151100	PTPN11	5781	HP:0001003	Multiple lentigines
OMIM:151100	PTPN11	5781	HP:0000047	Hypospadias
OMIM:151100	PTPN11	5781	HP:0001709	Third degree atrioventricular block
OMIM:151100	PTPN11	5781	HP:0000465	Webbed neck
OMIM:151100	PTPN11	5781	HP:0000921	Missing ribs
OMIM:151100	PTPN11	5781	HP:0000325	Triangular face
OMIM:151100	PTPN11	5781	HP:0010463	Aplasia of the ovary
OMIM:151100	PTPN11	5781	HP:0003691	Scapular winging
OMIM:151100	PTPN11	5781	HP:0000457	Depressed nasal ridge
OMIM:151100	PTPN11	5781	HP:0000823	Delayed puberty
OMIM:151100	PTPN11	5781	HP:0008724	Hypoplasia of the ovary
OMIM:151100	PTPN11	5781	HP:0000122	Unilateral renal agenesis
OMIM:615486	MARS	4141	HP:0006517	Alveolar proteinosis
OMIM:615486	MARS	4141	HP:0002240	Hepatomegaly
OMIM:615486	MARS	4141	HP:0002910	Elevated hepatic transaminases
OMIM:615486	MARS	4141	HP:0000007	Autosomal recessive inheritance
OMIM:615486	MARS	4141	HP:0001397	Hepatic steatosis
OMIM:615486	MARS	4141	HP:0001508	Failure to thrive
OMIM:615486	MARS	4141	HP:0003355	Aminoaciduria
OMIM:615486	MARS	4141	HP:0003828	Variable expressivity
OMIM:615486	MARS	4141	HP:0000821	Hypothyroidism
OMIM:615486	MARS	4141	HP:0001410	Decreased liver function
OMIM:615486	MARS	4141	HP:0006530	Interstitial pulmonary abnormality
OMIM:615486	MARS	4141	HP:0002094	Dyspnea
OMIM:615486	MARS	4141	HP:0003676	Progressive
OMIM:615486	MARS	4141	HP:0001217	Clubbing
OMIM:615486	MARS	4141	HP:0012735	Cough
OMIM:615486	MARS	4141	HP:0001903	Anemia
OMIM:615486	MARS	4141	HP:0002093	Respiratory insufficiency
OMIM:605850	DMGDH	29958	HP:0003750	Increased muscle fatiguability
OMIM:605850	DMGDH	29958	HP:0000007	Autosomal recessive inheritance
OMIM:605850	DMGDH	29958	HP:0003236	Elevated serum creatine phosphokinase
OMIM:304100	L1CAM	3897	HP:0001257	Spasticity
OMIM:304100	L1CAM	3897	HP:0000252	Microcephaly
OMIM:304100	L1CAM	3897	HP:0001999	Abnormal facial shape
OMIM:304100	L1CAM	3897	HP:0000238	Hydrocephalus
OMIM:304100	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:304100	L1CAM	3897	HP:0001338	Partial agenesis of the corpus callosum
OMIM:304100	L1CAM	3897	HP:0007068	Inferior vermis hypoplasia
OMIM:304100	L1CAM	3897	HP:0001250	Seizures
OMIM:304100	L1CAM	3897	HP:0001321	Cerebellar hypoplasia
OMIM:304100	L1CAM	3897	HP:0002251	Aganglionic megacolon
OMIM:304100	L1CAM	3897	HP:0001419	X-linked recessive inheritance
OMIM:616393	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616393	EEF1A2	1917	HP:0000369	Low-set ears
OMIM:616393	EEF1A2	1917	HP:0000232	Everted lower lip vermilion
OMIM:616393	EEF1A2	1917	HP:0000286	Epicanthus
OMIM:616393	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616393	EEF1A2	1917	HP:0005280	Depressed nasal bridge
OMIM:616393	EEF1A2	1917	HP:0002714	Downturned corners of mouth
OMIM:616393	EEF1A2	1917	HP:0001319	Neonatal hypotonia
OMIM:616393	EEF1A2	1917	HP:0000494	Downslanted palpebral fissures
OMIM:616393	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:616393	EEF1A2	1917	HP:0001250	Seizures
OMIM:616393	EEF1A2	1917	HP:0010864	Intellectual disability, severe
OMIM:616393	EEF1A2	1917	HP:0000006	Autosomal dominant inheritance
OMIM:616393	EEF1A2	1917	HP:0003593	Infantile onset
OMIM:616393	EEF1A2	1917	HP:0000490	Deeply set eye
OMIM:616393	EEF1A2	1917	HP:0010804	Tented upper lip vermilion
OMIM:616393	EEF1A2	1917	HP:0001249	Intellectual disability
OMIM:602471	GSC	145258	HP:0000882	Hypoplastic scapulae
OMIM:602471	GSC	145258	HP:0001762	Talipes equinovarus
OMIM:602471	GSC	145258	HP:0000601	Hypotelorism
OMIM:602471	GSC	145258	HP:0008785	Delayed ossification of pubic rami
OMIM:602471	GSC	145258	HP:0004467	Preauricular pit
OMIM:602471	GSC	145258	HP:0011968	Feeding difficulties
OMIM:602471	GSC	145258	HP:0000028	Cryptorchidism
OMIM:602471	GSC	145258	HP:0000347	Micrognathia
OMIM:602471	GSC	145258	HP:0000405	Conductive hearing impairment
OMIM:602471	GSC	145258	HP:0000413	Atresia of the external auditory canal
OMIM:602471	GSC	145258	HP:0002827	Hip dislocation
OMIM:602471	GSC	145258	HP:0000490	Deeply set eye
OMIM:602471	GSC	145258	HP:0000007	Autosomal recessive inheritance
OMIM:602471	GSC	145258	HP:0000272	Malar flattening
OMIM:602471	GSC	145258	HP:0000494	Downslanted palpebral fissures
OMIM:602471	GSC	145258	HP:0001371	Flexion contracture
OMIM:602471	GSC	145258	HP:0000160	Narrow mouth
OMIM:602471	GSC	145258	HP:0005792	Short humerus
OMIM:602471	GSC	145258	HP:0008905	Rhizomelia
OMIM:602471	GSC	145258	HP:0003577	Congenital onset
OMIM:602471	GSC	145258	HP:0000218	High palate
OMIM:602471	GSC	145258	HP:0003083	Dislocated radial head
OMIM:602471	GSC	145258	HP:0006595	Scapulohumeral synostosis
OMIM:604536	PKP1	5317	HP:0000968	Ectodermal dysplasia
OMIM:604536	PKP1	5317	HP:0001030	Fragile skin
OMIM:613728	ANO10	55129	HP:0002066	Gait ataxia
OMIM:613728	ANO10	55129	HP:0002380	Fasciculations
OMIM:613728	ANO10	55129	HP:0001260	Dysarthria
OMIM:613728	ANO10	55129	HP:0001761	Pes cavus
OMIM:613728	ANO10	55129	HP:0001347	Hyperreflexia
OMIM:613728	ANO10	55129	HP:0000639	Nystagmus
OMIM:613728	ANO10	55129	HP:0000007	Autosomal recessive inheritance
OMIM:613728	ANO10	55129	HP:0007338	Hypermetric saccades
OMIM:613728	ANO10	55129	HP:0001310	Dysmetria
OMIM:613728	ANO10	55129	HP:0001272	Cerebellar atrophy
OMIM:613728	ANO10	55129	HP:0002078	Truncal ataxia
OMIM:613728	ANO10	55129	HP:0002070	Limb ataxia
ORPHA:166011	COL2A1	1280	HP:0000518	Cataract
ORPHA:166011	COL2A1	1280	HP:0000405	Conductive hearing impairment
ORPHA:166011	COL2A1	1280	HP:0001798	Anonychia
ORPHA:166011	COL2A1	1280	HP:0002857	Genu valgum
ORPHA:166011	COL2A1	1280	HP:0000545	Myopia
ORPHA:166011	COL2A1	1280	HP:0000160	Narrow mouth
ORPHA:166011	COL2A1	1280	HP:0000311	Round face
ORPHA:166011	COL2A1	1280	HP:0004279	Short palm
ORPHA:166011	COL2A1	1280	HP:0002656	Epiphyseal dysplasia
ORPHA:166011	COL2A1	1280	HP:0007973	Retinal dysplasia
ORPHA:166011	COL2A1	1280	HP:0012368	Flat face
OMIM:615991	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:615991	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615991	CEP290	80184	HP:0001513	Obesity
OMIM:615991	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615991	CEP290	80184	HP:0001249	Intellectual disability
OMIM:602772	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:602772	EYS	346007	HP:0000662	Nyctalopia
OMIM:602772	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:602772	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:602772	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:602772	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
ORPHA:726	POLG	5428	HP:0002313	Spastic paraparesis
ORPHA:726	POLG	5428	HP:0001266	Choreoathetosis
ORPHA:726	POLG	5428	HP:0001284	Areflexia
ORPHA:726	POLG	5428	HP:0001259	Coma
ORPHA:726	POLG	5428	HP:0001336	Myoclonus
ORPHA:726	POLG	5428	HP:0001252	Muscular hypotonia
ORPHA:726	POLG	5428	HP:0007359	Focal seizures
ORPHA:726	POLG	5428	HP:0002191	Progressive spasticity
ORPHA:726	POLG	5428	HP:0000252	Microcephaly
ORPHA:726	POLG	5428	HP:0002376	Developmental regression
ORPHA:726	POLG	5428	HP:0001263	Global developmental delay
ORPHA:726	POLG	5428	HP:0001251	Ataxia
ORPHA:726	POLG	5428	HP:0002069	Generalized tonic-clonic seizures
OMIM:614559	ACO2	50	HP:0003593	Infantile onset
OMIM:614559	ACO2	50	HP:0002305	Athetosis
OMIM:614559	ACO2	50	HP:0000648	Optic atrophy
OMIM:614559	ACO2	50	HP:0000639	Nystagmus
OMIM:614559	ACO2	50	HP:0001250	Seizures
OMIM:614559	ACO2	50	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614559	ACO2	50	HP:0011344	Severe global developmental delay
OMIM:614559	ACO2	50	HP:0010864	Intellectual disability, severe
OMIM:614559	ACO2	50	HP:0007108	Demyelinating peripheral neuropathy
OMIM:614559	ACO2	50	HP:0001272	Cerebellar atrophy
OMIM:614559	ACO2	50	HP:0001265	Hyporeflexia
OMIM:614559	ACO2	50	HP:0001508	Failure to thrive
OMIM:614559	ACO2	50	HP:0001284	Areflexia
OMIM:614559	ACO2	50	HP:0001290	Generalized hypotonia
OMIM:614559	ACO2	50	HP:0001251	Ataxia
OMIM:614559	ACO2	50	HP:0000556	Retinal dystrophy
OMIM:614559	ACO2	50	HP:0000007	Autosomal recessive inheritance
OMIM:614559	ACO2	50	HP:0000253	Progressive microcephaly
OMIM:614559	ACO2	50	HP:0002120	Cerebral cortical atrophy
OMIM:614559	ACO2	50	HP:0000486	Strabismus
OMIM:617025	NEK9	91754	HP:0001428	Somatic mutation
ORPHA:229	MYH11	4629	HP:0012763	Paroxysmal dyspnea
ORPHA:229	MYH11	4629	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:229	MYH11	4629	HP:0001659	Aortic regurgitation
ORPHA:229	MYH11	4629	HP:0002631	Dilatation of ascending aorta
ORPHA:229	MYH11	4629	HP:0100749	Chest pain
ORPHA:229	MYH11	4629	HP:0001640	Cardiomegaly
ORPHA:229	MYH11	4629	HP:0012499	Descending aortic dissection
ORPHA:229	MYH11	4629	HP:0002875	Exertional dyspnea
ORPHA:229	MYH11	4629	HP:0001643	Patent ductus arteriosus
ORPHA:229	MYH11	4629	HP:0005162	Left ventricular failure
ORPHA:229	MYH11	4629	HP:0004933	Ascending aortic dissection
ORPHA:229	MYH11	4629	HP:0001677	Coronary artery disease
ORPHA:229	MYH11	4629	HP:0004954	Dilatation of the descending aortic
ORPHA:774	GDF2	2658	HP:0100585	Telangiectasia of the skin
ORPHA:774	GDF2	2658	HP:0007420	Spontaneous hematomas
ORPHA:774	GDF2	2658	HP:0100761	Visceral angiomatosis
ORPHA:774	GDF2	2658	HP:0000421	Epistaxis
ORPHA:774	GDF2	2658	HP:0001048	Cavernous hemangioma
ORPHA:774	GDF2	2658	HP:0002076	Migraine
ORPHA:774	GDF2	2658	HP:0001082	Cholecystitis
ORPHA:774	GDF2	2658	HP:0001409	Portal hypertension
ORPHA:774	GDF2	2658	HP:0001935	Microcytic anemia
ORPHA:774	ENG	2022	HP:0100585	Telangiectasia of the skin
ORPHA:774	ENG	2022	HP:0007420	Spontaneous hematomas
ORPHA:774	ENG	2022	HP:0100761	Visceral angiomatosis
ORPHA:774	ENG	2022	HP:0000421	Epistaxis
ORPHA:774	ENG	2022	HP:0001048	Cavernous hemangioma
ORPHA:774	ENG	2022	HP:0002076	Migraine
ORPHA:774	ENG	2022	HP:0001082	Cholecystitis
ORPHA:774	ENG	2022	HP:0001409	Portal hypertension
ORPHA:774	ENG	2022	HP:0001935	Microcytic anemia
ORPHA:774	SMAD4	4089	HP:0100585	Telangiectasia of the skin
ORPHA:774	SMAD4	4089	HP:0007420	Spontaneous hematomas
ORPHA:774	SMAD4	4089	HP:0100761	Visceral angiomatosis
ORPHA:774	SMAD4	4089	HP:0000421	Epistaxis
ORPHA:774	SMAD4	4089	HP:0001048	Cavernous hemangioma
ORPHA:774	SMAD4	4089	HP:0002076	Migraine
ORPHA:774	SMAD4	4089	HP:0001082	Cholecystitis
ORPHA:774	SMAD4	4089	HP:0001409	Portal hypertension
ORPHA:774	SMAD4	4089	HP:0001935	Microcytic anemia
ORPHA:774	ACVRL1	94	HP:0100585	Telangiectasia of the skin
ORPHA:774	ACVRL1	94	HP:0007420	Spontaneous hematomas
ORPHA:774	ACVRL1	94	HP:0100761	Visceral angiomatosis
ORPHA:774	ACVRL1	94	HP:0000421	Epistaxis
ORPHA:774	ACVRL1	94	HP:0001048	Cavernous hemangioma
ORPHA:774	ACVRL1	94	HP:0002076	Migraine
ORPHA:774	ACVRL1	94	HP:0001082	Cholecystitis
ORPHA:774	ACVRL1	94	HP:0001409	Portal hypertension
ORPHA:774	ACVRL1	94	HP:0001935	Microcytic anemia
OMIM:610220	PJVK	494513	HP:0000407	Sensorineural hearing impairment
OMIM:610220	PJVK	494513	HP:0000007	Autosomal recessive inheritance
OMIM:616069	EGFR	1956	HP:0006532	Recurrent pneumonia
OMIM:616069	EGFR	1956	HP:0100501	Recurrent bronchiolitis
OMIM:616069	EGFR	1956	HP:0002013	Vomiting
OMIM:616069	EGFR	1956	HP:0200034	Papule
OMIM:616069	EGFR	1956	HP:0000007	Autosomal recessive inheritance
OMIM:616069	EGFR	1956	HP:0000822	Hypertension
OMIM:616069	EGFR	1956	HP:0200039	Pustule
OMIM:616069	EGFR	1956	HP:0025092	Epidermal acanthosis
OMIM:616069	EGFR	1956	HP:0000527	Long eyelashes
OMIM:616069	EGFR	1956	HP:0001508	Failure to thrive
OMIM:600652	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYH14	79784	HP:0000408	Progressive sensorineural hearing impairment
OMIM:614417	CPA6	57094	HP:0000007	Autosomal recessive inheritance
OMIM:614417	CPA6	57094	HP:0001250	Seizures
OMIM:614417	CPA6	57094	HP:0000006	Autosomal dominant inheritance
OMIM:610329	RNASEH2C	84153	HP:0001433	Hepatosplenomegaly
OMIM:610329	RNASEH2C	84153	HP:0001347	Hyperreflexia
OMIM:610329	RNASEH2C	84153	HP:0001873	Thrombocytopenia
OMIM:610329	RNASEH2C	84153	HP:0000253	Progressive microcephaly
OMIM:610329	RNASEH2C	84153	HP:0001290	Generalized hypotonia
OMIM:610329	RNASEH2C	84153	HP:0002514	Cerebral calcification
OMIM:610329	RNASEH2C	84153	HP:0002910	Elevated hepatic transaminases
OMIM:610329	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:610329	RNASEH2C	84153	HP:0011344	Severe global developmental delay
OMIM:610329	RNASEH2C	84153	HP:0012448	Delayed myelination
OMIM:610329	RNASEH2C	84153	HP:0003819	Death in childhood
OMIM:610329	RNASEH2C	84153	HP:0001298	Encephalopathy
OMIM:610329	RNASEH2C	84153	HP:0003676	Progressive
OMIM:610329	RNASEH2C	84153	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	RNASEH2C	84153	HP:0001257	Spasticity
OMIM:610329	RNASEH2C	84153	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	RNASEH2C	84153	HP:0000639	Nystagmus
OMIM:610329	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:615023	CERS3	204219	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	CERS3	204219	HP:0025114	Hypergranulosis
OMIM:615023	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:615023	CERS3	204219	HP:0025092	Epidermal acanthosis
OMIM:309549	FTSJ1	24140	HP:0002194	Delayed gross motor development
OMIM:309549	FTSJ1	24140	HP:0000637	Long palpebral fissure
OMIM:309549	FTSJ1	24140	HP:0000179	Thick lower lip vermilion
OMIM:309549	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:309549	FTSJ1	24140	HP:0000400	Macrotia
OMIM:309549	FTSJ1	24140	HP:0000629	Periorbital fullness
OMIM:309549	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:309549	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:309549	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:118300	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:118300	PMP22	5376	HP:0003376	Steppage gait
OMIM:118300	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:118300	PMP22	5376	HP:0001284	Areflexia
OMIM:118300	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:118300	PMP22	5376	HP:0001171	Split hand
OMIM:118300	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:118300	PMP22	5376	HP:0001761	Pes cavus
OMIM:118300	PMP22	5376	HP:0003621	Juvenile onset
OMIM:118300	PMP22	5376	HP:0000407	Sensorineural hearing impairment
OMIM:118300	PMP22	5376	HP:0001884	Talipes calcaneovalgus
OMIM:118300	PMP22	5376	HP:0011463	Childhood onset
OMIM:118300	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:118300	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118300	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:118300	PMP22	5376	HP:0001765	Hammertoe
OMIM:601005	CACNA1C	775	HP:0000311	Round face
OMIM:601005	CACNA1C	775	HP:0002719	Recurrent infections
OMIM:601005	CACNA1C	775	HP:0012725	Cutaneous syndactyly
OMIM:601005	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:601005	CACNA1C	775	HP:0001263	Global developmental delay
OMIM:601005	CACNA1C	775	HP:0001699	Sudden death
OMIM:601005	CACNA1C	775	HP:0000691	Microdontia
OMIM:601005	CACNA1C	775	HP:0000219	Thin upper lip vermilion
OMIM:601005	CACNA1C	775	HP:0001657	Prolonged QT interval
OMIM:601005	CACNA1C	775	HP:0005280	Depressed nasal bridge
OMIM:609734	POMC	5443	HP:0000846	Adrenal insufficiency
OMIM:609734	POMC	5443	HP:0002297	Red hair
OMIM:609734	POMC	5443	HP:0001513	Obesity
OMIM:609734	POMC	5443	HP:0002173	Hypoglycemic seizures
OMIM:609734	POMC	5443	HP:0001396	Cholestasis
OMIM:609734	POMC	5443	HP:0000007	Autosomal recessive inheritance
OMIM:609734	POMC	5443	HP:0011748	Adrenocorticotropic hormone deficiency
OMIM:213300	INPP5E	56623	HP:0001290	Generalized hypotonia
OMIM:213300	INPP5E	56623	HP:0007772	Impaired smooth pursuit
OMIM:213300	INPP5E	56623	HP:0000369	Low-set ears
OMIM:213300	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:213300	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:213300	INPP5E	56623	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	INPP5E	56623	HP:0000158	Macroglossia
OMIM:213300	INPP5E	56623	HP:0000567	Chorioretinal coloboma
OMIM:213300	INPP5E	56623	HP:0000742	Self-mutilation
OMIM:213300	INPP5E	56623	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	INPP5E	56623	HP:0000508	Ptosis
OMIM:213300	INPP5E	56623	HP:0001425	Heterogeneous
OMIM:213300	INPP5E	56623	HP:0001395	Hepatic fibrosis
OMIM:213300	INPP5E	56623	HP:0000463	Anteverted nares
OMIM:213300	INPP5E	56623	HP:0002871	Central apnea
OMIM:213300	INPP5E	56623	HP:0002553	Highly arched eyebrow
OMIM:213300	INPP5E	56623	HP:0010808	Protruding tongue
OMIM:213300	INPP5E	56623	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	INPP5E	56623	HP:0011220	Prominent forehead
OMIM:213300	INPP5E	56623	HP:0200096	Triangular-shaped open mouth
OMIM:213300	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:213300	INPP5E	56623	HP:0000588	Optic nerve coloboma
OMIM:213300	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:213300	INPP5E	56623	HP:0003812	Phenotypic variability
OMIM:213300	INPP5E	56623	HP:0002508	Brainstem dysplasia
OMIM:213300	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:213300	INPP5E	56623	HP:0001162	Postaxial hand polydactyly
OMIM:213300	INPP5E	56623	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	INPP5E	56623	HP:0000256	Macrocephaly
OMIM:213300	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:213300	INPP5E	56623	HP:0000286	Epicanthus
OMIM:213300	INPP5E	56623	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	INPP5E	56623	HP:0010828	Hemifacial spasm
OMIM:213300	INPP5E	56623	HP:0000718	Aggressive behavior
OMIM:213300	INPP5E	56623	HP:0001251	Ataxia
OMIM:213300	INPP5E	56623	HP:0000752	Hyperactivity
OMIM:213300	INPP5E	56623	HP:0001760	Abnormality of the foot
OMIM:213300	INPP5E	56623	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	INPP5E	56623	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	INPP5E	56623	HP:0002876	Episodic tachypnea
OMIM:617133	UBA5	79876	HP:0001272	Cerebellar atrophy
OMIM:617133	UBA5	79876	HP:0000007	Autosomal recessive inheritance
OMIM:617133	UBA5	79876	HP:0002066	Gait ataxia
OMIM:617133	UBA5	79876	HP:0000518	Cataract
OMIM:617133	UBA5	79876	HP:0001260	Dysarthria
OMIM:617133	UBA5	79876	HP:0002070	Limb ataxia
OMIM:617133	UBA5	79876	HP:0000639	Nystagmus
OMIM:617133	UBA5	79876	HP:0003676	Progressive
ORPHA:54595	BRAF	673	HP:0011750	Neoplasm of the anterior pituitary
ORPHA:54595	BRAF	673	HP:0030588	Abnormal visual field test
ORPHA:54595	BRAF	673	HP:0002315	Headache
ORPHA:54595	BRAF	673	HP:0001262	Excessive daytime somnolence
ORPHA:54595	BRAF	673	HP:0000863	Central diabetes insipidus
ORPHA:54595	BRAF	673	HP:0001513	Obesity
ORPHA:54595	BRAF	673	HP:0001085	Papilledema
ORPHA:54595	BRAF	673	HP:0007924	Slow decrease in visual acuity
ORPHA:54595	BRAF	673	HP:0010576	Intracranial cystic lesion
ORPHA:54595	BRAF	673	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:54595	BRAF	673	HP:0002017	Nausea and vomiting
ORPHA:54595	BRAF	673	HP:0012505	Enlarged pituitary gland
ORPHA:54595	BRAF	673	HP:0030521	Bitemporal hemianopia
ORPHA:54595	BRAF	673	HP:0011734	Central adrenal insufficiency
ORPHA:54595	BRAF	673	HP:0012286	Abnormal hypothalamus morphology
ORPHA:54595	BRAF	673	HP:0002514	Cerebral calcification
ORPHA:54595	BRAF	673	HP:0008245	Pituitary hypothyroidism
ORPHA:54595	BRAF	673	HP:0000870	Prolactin excess
ORPHA:54595	BRAF	673	HP:0007987	Progressive visual field defects
ORPHA:54595	CTNNB1	1499	HP:0011750	Neoplasm of the anterior pituitary
ORPHA:54595	CTNNB1	1499	HP:0030588	Abnormal visual field test
ORPHA:54595	CTNNB1	1499	HP:0002315	Headache
ORPHA:54595	CTNNB1	1499	HP:0001262	Excessive daytime somnolence
ORPHA:54595	CTNNB1	1499	HP:0000863	Central diabetes insipidus
ORPHA:54595	CTNNB1	1499	HP:0001513	Obesity
ORPHA:54595	CTNNB1	1499	HP:0001085	Papilledema
ORPHA:54595	CTNNB1	1499	HP:0007924	Slow decrease in visual acuity
ORPHA:54595	CTNNB1	1499	HP:0010576	Intracranial cystic lesion
ORPHA:54595	CTNNB1	1499	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:54595	CTNNB1	1499	HP:0002017	Nausea and vomiting
ORPHA:54595	CTNNB1	1499	HP:0012505	Enlarged pituitary gland
ORPHA:54595	CTNNB1	1499	HP:0030521	Bitemporal hemianopia
ORPHA:54595	CTNNB1	1499	HP:0011734	Central adrenal insufficiency
ORPHA:54595	CTNNB1	1499	HP:0012286	Abnormal hypothalamus morphology
ORPHA:54595	CTNNB1	1499	HP:0002514	Cerebral calcification
ORPHA:54595	CTNNB1	1499	HP:0008245	Pituitary hypothyroidism
ORPHA:54595	CTNNB1	1499	HP:0000870	Prolactin excess
ORPHA:54595	CTNNB1	1499	HP:0007987	Progressive visual field defects
OMIM:278150	LPAR6	10161	HP:0000006	Autosomal dominant inheritance
OMIM:278150	LPAR6	10161	HP:0002208	Coarse hair
OMIM:278150	LPAR6	10161	HP:0000007	Autosomal recessive inheritance
OMIM:278150	LPAR6	10161	HP:0001006	Hypotrichosis
OMIM:278150	LPAR6	10161	HP:0002286	Fair hair
OMIM:268800	HEXB	3074	HP:0001260	Dysarthria
OMIM:268800	HEXB	3074	HP:0000966	Hypohidrosis
OMIM:268800	HEXB	3074	HP:0001433	Hepatosplenomegaly
OMIM:268800	HEXB	3074	HP:0000158	Macroglossia
OMIM:268800	HEXB	3074	HP:0000975	Hyperhidrosis
OMIM:268800	HEXB	3074	HP:0001278	Orthostatic hypotension
OMIM:268800	HEXB	3074	HP:0000020	Urinary incontinence
OMIM:268800	HEXB	3074	HP:0002028	Chronic diarrhea
OMIM:268800	HEXB	3074	HP:0007272	Progressive psychomotor deterioration
OMIM:268800	HEXB	3074	HP:0000802	Impotence
OMIM:268800	HEXB	3074	HP:0010729	Cherry red spot of the macula
OMIM:268800	HEXB	3074	HP:0000256	Macrocephaly
OMIM:268800	HEXB	3074	HP:0001251	Ataxia
OMIM:268800	HEXB	3074	HP:0000280	Coarse facial features
OMIM:268800	HEXB	3074	HP:0000618	Blindness
OMIM:268800	HEXB	3074	HP:0002380	Fasciculations
OMIM:268800	HEXB	3074	HP:0002574	Episodic abdominal pain
OMIM:268800	HEXB	3074	HP:0001324	Muscle weakness
OMIM:268800	HEXB	3074	HP:0003202	Skeletal muscle atrophy
OMIM:268800	HEXB	3074	HP:0001347	Hyperreflexia
OMIM:268800	HEXB	3074	HP:0006901	Impaired thermal sensitivity
OMIM:268800	HEXB	3074	HP:0004343	Abnormality of glycosphingolipid metabolism
OMIM:268800	HEXB	3074	HP:0001640	Cardiomegaly
OMIM:115200	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:115200	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:115200	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:115200	LMNA	4000	HP:0001698	Pericardial effusion
OMIM:115200	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:115200	LMNA	4000	HP:0004749	Atrial flutter
OMIM:115200	LMNA	4000	HP:0005110	Atrial fibrillation
OMIM:303100	CHM	1121	HP:0001133	Constriction of peripheral visual field
OMIM:303100	CHM	1121	HP:0000533	Chorioretinal atrophy
OMIM:303100	CHM	1121	HP:0001423	X-linked dominant inheritance
OMIM:303100	CHM	1121	HP:0000662	Nyctalopia
OMIM:303100	CHM	1121	HP:0001139	Choroideremia
OMIM:303100	CHM	1121	HP:0200065	Chorioretinal degeneration
OMIM:303100	CHM	1121	HP:0000529	Progressive visual loss
ORPHA:377	PTCH2	8643	HP:0002664	Neoplasm
ORPHA:377	PTCH2	8643	HP:0002948	Vertebral fusion
ORPHA:377	PTCH2	8643	HP:0001156	Brachydactyly
ORPHA:377	PTCH2	8643	HP:0002514	Cerebral calcification
ORPHA:377	PTCH2	8643	HP:0010610	Palmar pits
ORPHA:377	PTCH2	8643	HP:0000431	Wide nasal bridge
ORPHA:377	PTCH2	8643	HP:0000464	Abnormality of the neck
ORPHA:377	PTCH2	8643	HP:0010612	Plantar pits
ORPHA:377	PTCH2	8643	HP:0008422	Vertebral wedging
ORPHA:377	PTCH2	8643	HP:0002650	Scoliosis
ORPHA:377	PTCH2	8643	HP:0000995	Melanocytic nevus
ORPHA:377	SUFU	51684	HP:0002664	Neoplasm
ORPHA:377	SUFU	51684	HP:0002948	Vertebral fusion
ORPHA:377	SUFU	51684	HP:0001156	Brachydactyly
ORPHA:377	SUFU	51684	HP:0002514	Cerebral calcification
ORPHA:377	SUFU	51684	HP:0010610	Palmar pits
ORPHA:377	SUFU	51684	HP:0000431	Wide nasal bridge
ORPHA:377	SUFU	51684	HP:0000464	Abnormality of the neck
ORPHA:377	SUFU	51684	HP:0010612	Plantar pits
ORPHA:377	SUFU	51684	HP:0008422	Vertebral wedging
ORPHA:377	SUFU	51684	HP:0002650	Scoliosis
ORPHA:377	SUFU	51684	HP:0000995	Melanocytic nevus
ORPHA:377	PTCH1	5727	HP:0002664	Neoplasm
ORPHA:377	PTCH1	5727	HP:0002948	Vertebral fusion
ORPHA:377	PTCH1	5727	HP:0001156	Brachydactyly
ORPHA:377	PTCH1	5727	HP:0002514	Cerebral calcification
ORPHA:377	PTCH1	5727	HP:0010610	Palmar pits
ORPHA:377	PTCH1	5727	HP:0000431	Wide nasal bridge
ORPHA:377	PTCH1	5727	HP:0000464	Abnormality of the neck
ORPHA:377	PTCH1	5727	HP:0010612	Plantar pits
ORPHA:377	PTCH1	5727	HP:0008422	Vertebral wedging
ORPHA:377	PTCH1	5727	HP:0002650	Scoliosis
ORPHA:377	PTCH1	5727	HP:0000995	Melanocytic nevus
ORPHA:2345	GDF3	9573	HP:0000465	Webbed neck
ORPHA:2345	GDF3	9573	HP:0000470	Short neck
ORPHA:2345	GDF3	9573	HP:0005988	Congenital muscular torticollis
ORPHA:2345	GDF3	9573	HP:0000324	Facial asymmetry
ORPHA:2345	GDF3	9573	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:2345	GDF3	9573	HP:0002162	Low posterior hairline
ORPHA:2345	GDF3	9573	HP:0000772	Abnormality of the ribs
ORPHA:2345	GDF3	9573	HP:0000912	Sprengel anomaly
ORPHA:2345	GDF3	9573	HP:0003043	Abnormality of the shoulder
ORPHA:2345	GDF3	9573	HP:0000365	Hearing impairment
ORPHA:2345	GDF3	9573	HP:0002650	Scoliosis
ORPHA:2345	GDF3	9573	HP:0004602	Cervical C2/C3 vertebral fusion
ORPHA:2345	GDF6	392255	HP:0000465	Webbed neck
ORPHA:2345	GDF6	392255	HP:0000470	Short neck
ORPHA:2345	GDF6	392255	HP:0005988	Congenital muscular torticollis
ORPHA:2345	GDF6	392255	HP:0000324	Facial asymmetry
ORPHA:2345	GDF6	392255	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:2345	GDF6	392255	HP:0002162	Low posterior hairline
ORPHA:2345	GDF6	392255	HP:0000772	Abnormality of the ribs
ORPHA:2345	GDF6	392255	HP:0000912	Sprengel anomaly
ORPHA:2345	GDF6	392255	HP:0003043	Abnormality of the shoulder
ORPHA:2345	GDF6	392255	HP:0000365	Hearing impairment
ORPHA:2345	GDF6	392255	HP:0002650	Scoliosis
ORPHA:2345	GDF6	392255	HP:0004602	Cervical C2/C3 vertebral fusion
ORPHA:2345	MEOX1	4222	HP:0000465	Webbed neck
ORPHA:2345	MEOX1	4222	HP:0000470	Short neck
ORPHA:2345	MEOX1	4222	HP:0005988	Congenital muscular torticollis
ORPHA:2345	MEOX1	4222	HP:0000324	Facial asymmetry
ORPHA:2345	MEOX1	4222	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:2345	MEOX1	4222	HP:0002162	Low posterior hairline
ORPHA:2345	MEOX1	4222	HP:0000772	Abnormality of the ribs
ORPHA:2345	MEOX1	4222	HP:0000912	Sprengel anomaly
ORPHA:2345	MEOX1	4222	HP:0003043	Abnormality of the shoulder
ORPHA:2345	MEOX1	4222	HP:0000365	Hearing impairment
ORPHA:2345	MEOX1	4222	HP:0002650	Scoliosis
ORPHA:2345	MEOX1	4222	HP:0004602	Cervical C2/C3 vertebral fusion
OMIM:186000	HOXD13	3239	HP:0006101	Finger syndactyly
OMIM:186000	HOXD13	3239	HP:0006042	Y-shaped metacarpals
OMIM:186000	HOXD13	3239	HP:0004209	Clinodactyly of the 5th finger
OMIM:186000	HOXD13	3239	HP:0004692	4-5 toe syndactyly
OMIM:186000	HOXD13	3239	HP:0001501	6 metacarpals
OMIM:186000	HOXD13	3239	HP:0004220	Short middle phalanx of the 5th finger
OMIM:186000	HOXD13	3239	HP:0010055	Broad hallux
OMIM:186000	HOXD13	3239	HP:0008083	2nd-5th toe middle phalangeal hypoplasia
OMIM:186000	HOXD13	3239	HP:0006159	Mesoaxial hand polydactyly
OMIM:186000	HOXD13	3239	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
OMIM:186000	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:186000	HOXD13	3239	HP:0001830	Postaxial foot polydactyly
OMIM:186000	HOXD13	3239	HP:0006097	3-4 finger syndactyly
OMIM:617297	ACP4	93650	HP:0000007	Autosomal recessive inheritance
ORPHA:3303	GDF1	2657	HP:0004467	Preauricular pit
ORPHA:3303	GDF1	2657	HP:0000233	Thin vermilion border
ORPHA:3303	GDF1	2657	HP:0000337	Broad forehead
ORPHA:3303	GDF1	2657	HP:0000520	Proptosis
ORPHA:3303	GDF1	2657	HP:0001511	Intrauterine growth retardation
ORPHA:3303	GDF1	2657	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	GDF1	2657	HP:0005105	Abnormal nasal morphology
ORPHA:3303	GDF1	2657	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	GDF1	2657	HP:0001156	Brachydactyly
ORPHA:3303	GDF1	2657	HP:0000268	Dolichocephaly
ORPHA:3303	GDF1	2657	HP:0000028	Cryptorchidism
ORPHA:3303	GDF1	2657	HP:0001636	Tetralogy of Fallot
ORPHA:3303	GATA4	2626	HP:0004467	Preauricular pit
ORPHA:3303	GATA4	2626	HP:0000233	Thin vermilion border
ORPHA:3303	GATA4	2626	HP:0000337	Broad forehead
ORPHA:3303	GATA4	2626	HP:0000520	Proptosis
ORPHA:3303	GATA4	2626	HP:0001511	Intrauterine growth retardation
ORPHA:3303	GATA4	2626	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	GATA4	2626	HP:0005105	Abnormal nasal morphology
ORPHA:3303	GATA4	2626	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	GATA4	2626	HP:0001156	Brachydactyly
ORPHA:3303	GATA4	2626	HP:0000268	Dolichocephaly
ORPHA:3303	GATA4	2626	HP:0000028	Cryptorchidism
ORPHA:3303	GATA4	2626	HP:0001636	Tetralogy of Fallot
ORPHA:3303	CITED2	10370	HP:0004467	Preauricular pit
ORPHA:3303	CITED2	10370	HP:0000233	Thin vermilion border
ORPHA:3303	CITED2	10370	HP:0000337	Broad forehead
ORPHA:3303	CITED2	10370	HP:0000520	Proptosis
ORPHA:3303	CITED2	10370	HP:0001511	Intrauterine growth retardation
ORPHA:3303	CITED2	10370	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	CITED2	10370	HP:0005105	Abnormal nasal morphology
ORPHA:3303	CITED2	10370	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	CITED2	10370	HP:0001156	Brachydactyly
ORPHA:3303	CITED2	10370	HP:0000268	Dolichocephaly
ORPHA:3303	CITED2	10370	HP:0000028	Cryptorchidism
ORPHA:3303	CITED2	10370	HP:0001636	Tetralogy of Fallot
ORPHA:3303	GATA6	2627	HP:0004467	Preauricular pit
ORPHA:3303	GATA6	2627	HP:0000233	Thin vermilion border
ORPHA:3303	GATA6	2627	HP:0000337	Broad forehead
ORPHA:3303	GATA6	2627	HP:0000520	Proptosis
ORPHA:3303	GATA6	2627	HP:0001511	Intrauterine growth retardation
ORPHA:3303	GATA6	2627	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	GATA6	2627	HP:0005105	Abnormal nasal morphology
ORPHA:3303	GATA6	2627	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	GATA6	2627	HP:0001156	Brachydactyly
ORPHA:3303	GATA6	2627	HP:0000268	Dolichocephaly
ORPHA:3303	GATA6	2627	HP:0000028	Cryptorchidism
ORPHA:3303	GATA6	2627	HP:0001636	Tetralogy of Fallot
ORPHA:3303	NKX2-6	137814	HP:0004467	Preauricular pit
ORPHA:3303	NKX2-6	137814	HP:0000233	Thin vermilion border
ORPHA:3303	NKX2-6	137814	HP:0000337	Broad forehead
ORPHA:3303	NKX2-6	137814	HP:0000520	Proptosis
ORPHA:3303	NKX2-6	137814	HP:0001511	Intrauterine growth retardation
ORPHA:3303	NKX2-6	137814	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	NKX2-6	137814	HP:0005105	Abnormal nasal morphology
ORPHA:3303	NKX2-6	137814	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	NKX2-6	137814	HP:0001156	Brachydactyly
ORPHA:3303	NKX2-6	137814	HP:0000268	Dolichocephaly
ORPHA:3303	NKX2-6	137814	HP:0000028	Cryptorchidism
ORPHA:3303	NKX2-6	137814	HP:0001636	Tetralogy of Fallot
ORPHA:3303	ZFPM2	23414	HP:0004467	Preauricular pit
ORPHA:3303	ZFPM2	23414	HP:0000233	Thin vermilion border
ORPHA:3303	ZFPM2	23414	HP:0000337	Broad forehead
ORPHA:3303	ZFPM2	23414	HP:0000520	Proptosis
ORPHA:3303	ZFPM2	23414	HP:0001511	Intrauterine growth retardation
ORPHA:3303	ZFPM2	23414	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	ZFPM2	23414	HP:0005105	Abnormal nasal morphology
ORPHA:3303	ZFPM2	23414	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	ZFPM2	23414	HP:0001156	Brachydactyly
ORPHA:3303	ZFPM2	23414	HP:0000268	Dolichocephaly
ORPHA:3303	ZFPM2	23414	HP:0000028	Cryptorchidism
ORPHA:3303	ZFPM2	23414	HP:0001636	Tetralogy of Fallot
ORPHA:3303	JAG1	182	HP:0004467	Preauricular pit
ORPHA:3303	JAG1	182	HP:0000233	Thin vermilion border
ORPHA:3303	JAG1	182	HP:0000337	Broad forehead
ORPHA:3303	JAG1	182	HP:0000520	Proptosis
ORPHA:3303	JAG1	182	HP:0001511	Intrauterine growth retardation
ORPHA:3303	JAG1	182	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	JAG1	182	HP:0005105	Abnormal nasal morphology
ORPHA:3303	JAG1	182	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	JAG1	182	HP:0001156	Brachydactyly
ORPHA:3303	JAG1	182	HP:0000268	Dolichocephaly
ORPHA:3303	JAG1	182	HP:0000028	Cryptorchidism
ORPHA:3303	JAG1	182	HP:0001636	Tetralogy of Fallot
ORPHA:3303	GATA5	140628	HP:0004467	Preauricular pit
ORPHA:3303	GATA5	140628	HP:0000233	Thin vermilion border
ORPHA:3303	GATA5	140628	HP:0000337	Broad forehead
ORPHA:3303	GATA5	140628	HP:0000520	Proptosis
ORPHA:3303	GATA5	140628	HP:0001511	Intrauterine growth retardation
ORPHA:3303	GATA5	140628	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	GATA5	140628	HP:0005105	Abnormal nasal morphology
ORPHA:3303	GATA5	140628	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	GATA5	140628	HP:0001156	Brachydactyly
ORPHA:3303	GATA5	140628	HP:0000268	Dolichocephaly
ORPHA:3303	GATA5	140628	HP:0000028	Cryptorchidism
ORPHA:3303	GATA5	140628	HP:0001636	Tetralogy of Fallot
ORPHA:3303	NKX2-5	1482	HP:0004467	Preauricular pit
ORPHA:3303	NKX2-5	1482	HP:0000233	Thin vermilion border
ORPHA:3303	NKX2-5	1482	HP:0000337	Broad forehead
ORPHA:3303	NKX2-5	1482	HP:0000520	Proptosis
ORPHA:3303	NKX2-5	1482	HP:0001511	Intrauterine growth retardation
ORPHA:3303	NKX2-5	1482	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	NKX2-5	1482	HP:0005105	Abnormal nasal morphology
ORPHA:3303	NKX2-5	1482	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	NKX2-5	1482	HP:0001156	Brachydactyly
ORPHA:3303	NKX2-5	1482	HP:0000268	Dolichocephaly
ORPHA:3303	NKX2-5	1482	HP:0000028	Cryptorchidism
ORPHA:3303	NKX2-5	1482	HP:0001636	Tetralogy of Fallot
ORPHA:3303	GJA5	2702	HP:0004467	Preauricular pit
ORPHA:3303	GJA5	2702	HP:0000233	Thin vermilion border
ORPHA:3303	GJA5	2702	HP:0000337	Broad forehead
ORPHA:3303	GJA5	2702	HP:0000520	Proptosis
ORPHA:3303	GJA5	2702	HP:0001511	Intrauterine growth retardation
ORPHA:3303	GJA5	2702	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:3303	GJA5	2702	HP:0005105	Abnormal nasal morphology
ORPHA:3303	GJA5	2702	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	GJA5	2702	HP:0001156	Brachydactyly
ORPHA:3303	GJA5	2702	HP:0000268	Dolichocephaly
ORPHA:3303	GJA5	2702	HP:0000028	Cryptorchidism
ORPHA:3303	GJA5	2702	HP:0001636	Tetralogy of Fallot
OMIM:262000	BCS1L	617	HP:0003777	Pili torti
OMIM:262000	BCS1L	617	HP:0002208	Coarse hair
OMIM:262000	BCS1L	617	HP:0001596	Alopecia
OMIM:262000	BCS1L	617	HP:0000407	Sensorineural hearing impairment
OMIM:262000	BCS1L	617	HP:0000970	Anhidrosis
OMIM:262000	BCS1L	617	HP:0011359	Dry hair
OMIM:262000	BCS1L	617	HP:0002299	Brittle hair
OMIM:262000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:262000	BCS1L	617	HP:0003828	Variable expressivity
OMIM:262000	BCS1L	617	HP:0000135	Hypogonadism
OMIM:262000	BCS1L	617	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
OMIM:613065	FLT3	2322	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	FLT3	2322	HP:0010982	Polygenic inheritance
OMIM:613065	BCR	613	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	BCR	613	HP:0010982	Polygenic inheritance
OMIM:613065	NUP214	8021	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	NUP214	8021	HP:0010982	Polygenic inheritance
OMIM:613065	TAL1	6886	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	TAL1	6886	HP:0010982	Polygenic inheritance
OMIM:613065	TAL2	6887	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	TAL2	6887	HP:0010982	Polygenic inheritance
OMIM:613065	NBN	4683	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	NBN	4683	HP:0010982	Polygenic inheritance
OMIM:613065	GNB1	2782	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	GNB1	2782	HP:0010982	Polygenic inheritance
OMIM:162500	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:162500	PMP22	5376	HP:0001605	Vocal cord paralysis
OMIM:162500	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:162500	PMP22	5376	HP:0001324	Muscle weakness
OMIM:162500	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:162500	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:300884	ALG13	79868	HP:0000463	Anteverted nares
OMIM:300884	ALG13	79868	HP:0012448	Delayed myelination
OMIM:300884	ALG13	79868	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:300884	ALG13	79868	HP:0000316	Hypertelorism
OMIM:300884	ALG13	79868	HP:0001250	Seizures
OMIM:300884	ALG13	79868	HP:0003593	Infantile onset
OMIM:300884	ALG13	79868	HP:0003642	Type I transferrin isoform profile
OMIM:300884	ALG13	79868	HP:0001423	X-linked dominant inheritance
OMIM:300884	ALG13	79868	HP:0000666	Horizontal nystagmus
OMIM:300884	ALG13	79868	HP:0000817	Poor eye contact
OMIM:300884	ALG13	79868	HP:0002240	Hepatomegaly
OMIM:300884	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300884	ALG13	79868	HP:0001290	Generalized hypotonia
OMIM:300884	ALG13	79868	HP:0010864	Intellectual disability, severe
OMIM:300884	ALG13	79868	HP:0000648	Optic atrophy
OMIM:300884	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300884	ALG13	79868	HP:0002059	Cerebral atrophy
OMIM:300884	ALG13	79868	HP:0000369	Low-set ears
OMIM:300884	ALG13	79868	HP:0002719	Recurrent infections
OMIM:300884	ALG13	79868	HP:0000252	Microcephaly
OMIM:611726	KCTD7	154881	HP:0000648	Optic atrophy
OMIM:611726	KCTD7	154881	HP:0003676	Progressive
OMIM:611726	KCTD7	154881	HP:0002078	Truncal ataxia
OMIM:611726	KCTD7	154881	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
OMIM:611726	KCTD7	154881	HP:0000007	Autosomal recessive inheritance
OMIM:611726	KCTD7	154881	HP:0001249	Intellectual disability
OMIM:611726	KCTD7	154881	HP:0001260	Dysarthria
OMIM:611726	KCTD7	154881	HP:0002123	Generalized myoclonic seizures
OMIM:182280	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:182280	RB1	5925	HP:0100526	Neoplasm of the lung
OMIM:607778	IHH	3549	HP:0010575	Dysplasia of the femoral head
OMIM:607778	IHH	3549	HP:0002869	Flared iliac wings
OMIM:607778	IHH	3549	HP:0100864	Short femoral neck
OMIM:607778	IHH	3549	HP:0004482	Relative macrocephaly
OMIM:607778	IHH	3549	HP:0005792	Short humerus
OMIM:607778	IHH	3549	HP:0003097	Short femur
OMIM:607778	IHH	3549	HP:0010241	Short proximal phalanx of finger
OMIM:607778	IHH	3549	HP:0000773	Short ribs
OMIM:607778	IHH	3549	HP:0004279	Short palm
OMIM:607778	IHH	3549	HP:0002866	Hypoplastic iliac wing
OMIM:607778	IHH	3549	HP:0000768	Pectus carinatum
OMIM:607778	IHH	3549	HP:0000007	Autosomal recessive inheritance
OMIM:607778	IHH	3549	HP:0000887	Cupped ribs
OMIM:607778	IHH	3549	HP:0008789	Cone-shaped capital femoral epiphysis
OMIM:607778	IHH	3549	HP:0010017	Cone-shaped epiphysis of the 1st metacarpal
OMIM:607778	IHH	3549	HP:0000767	Pectus excavatum
OMIM:607778	IHH	3549	HP:0001216	Delayed ossification of carpal bones
OMIM:607778	IHH	3549	HP:0002983	Micromelia
OMIM:607778	IHH	3549	HP:0002812	Coxa vara
OMIM:607778	IHH	3549	HP:0003498	Disproportionate short stature
OMIM:607778	IHH	3549	HP:0001156	Brachydactyly
OMIM:607778	IHH	3549	HP:0002938	Lumbar hyperlordosis
OMIM:607778	IHH	3549	HP:0009882	Short distal phalanx of finger
OMIM:607778	IHH	3549	HP:0005736	Short tibia
OMIM:607778	IHH	3549	HP:0008873	Disproportionate short-limb short stature
OMIM:607778	IHH	3549	HP:0002970	Genu varum
OMIM:607778	IHH	3549	HP:0006438	Enlargement of the distal femoral epiphysis
OMIM:607778	IHH	3549	HP:0003022	Hypoplasia of the ulna
OMIM:607778	IHH	3549	HP:0002984	Hypoplasia of the radius
OMIM:607778	IHH	3549	HP:0003300	Ovoid vertebral bodies
OMIM:607778	IHH	3549	HP:0003099	Fibular overgrowth
OMIM:607778	IHH	3549	HP:0010049	Short metacarpal
OMIM:607778	IHH	3549	HP:0002650	Scoliosis
OMIM:607778	IHH	3549	HP:0001821	Broad nail
OMIM:607778	IHH	3549	HP:0000774	Narrow chest
OMIM:607778	IHH	3549	HP:0009638	Short proximal phalanx of thumb
OMIM:613763	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYAB	1410	HP:0001115	Posterior polar cataract
OMIM:613763	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615895	RBCK1	10616	HP:0003676	Progressive
OMIM:615895	RBCK1	10616	HP:0003701	Proximal muscle weakness
OMIM:615895	RBCK1	10616	HP:0001508	Failure to thrive
OMIM:615895	RBCK1	10616	HP:0003828	Variable expressivity
OMIM:615895	RBCK1	10616	HP:0001644	Dilated cardiomyopathy
OMIM:615895	RBCK1	10616	HP:0000007	Autosomal recessive inheritance
OMIM:615895	RBCK1	10616	HP:0003326	Myalgia
OMIM:615895	RBCK1	10616	HP:0001510	Growth delay
OMIM:615895	RBCK1	10616	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612138	PLEC	5339	HP:0001371	Flexion contracture
OMIM:612138	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:612138	PLEC	5339	HP:0000430	Underdeveloped nasal alae
OMIM:612138	PLEC	5339	HP:0000490	Deeply set eye
OMIM:612138	PLEC	5339	HP:0008066	Abnormal blistering of the skin
OMIM:612138	PLEC	5339	HP:0001030	Fragile skin
OMIM:612138	PLEC	5339	HP:0003577	Congenital onset
OMIM:612138	PLEC	5339	HP:0001561	Polyhydramnios
OMIM:612138	PLEC	5339	HP:0008551	Microtia
OMIM:615527	TRAF3IP2	10758	HP:0000158	Macroglossia
OMIM:615527	TRAF3IP2	10758	HP:0012203	Onychomycosis
OMIM:615527	TRAF3IP2	10758	HP:0000498	Blepharitis
OMIM:615527	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:615838	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615838	LYRM7	90624	HP:0002878	Respiratory failure
OMIM:615838	LYRM7	90624	HP:0001903	Anemia
OMIM:615838	LYRM7	90624	HP:0001254	Lethargy
OMIM:615838	LYRM7	90624	HP:0000639	Nystagmus
OMIM:615838	LYRM7	90624	HP:0001288	Gait disturbance
OMIM:615838	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:615838	LYRM7	90624	HP:0002376	Developmental regression
OMIM:615838	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:615838	LYRM7	90624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	LYRM7	90624	HP:0001348	Brisk reflexes
OMIM:615838	LYRM7	90624	HP:0003676	Progressive
OMIM:615838	LYRM7	90624	HP:0001290	Generalized hypotonia
OMIM:615838	LYRM7	90624	HP:0002518	Abnormality of the periventricular white matter
OMIM:615838	LYRM7	90624	HP:0002059	Cerebral atrophy
OMIM:615838	LYRM7	90624	HP:0001508	Failure to thrive
OMIM:615838	LYRM7	90624	HP:0001324	Muscle weakness
OMIM:615838	LYRM7	90624	HP:0000544	External ophthalmoplegia
OMIM:615838	LYRM7	90624	HP:0003128	Lactic acidosis
OMIM:615838	LYRM7	90624	HP:0001249	Intellectual disability
OMIM:615838	LYRM7	90624	HP:0000577	Exotropia
OMIM:615838	LYRM7	90624	HP:0003678	Rapidly progressive
OMIM:615838	LYRM7	90624	HP:0001251	Ataxia
OMIM:615838	LYRM7	90624	HP:0001285	Spastic tetraparesis
OMIM:615838	LYRM7	90624	HP:0000543	Optic disc pallor
OMIM:615838	LYRM7	90624	HP:0001260	Dysarthria
OMIM:604571	TAP1	6890	HP:0002110	Bronchiectasis
OMIM:604571	TAP1	6890	HP:0100582	Nasal polyposis
OMIM:604571	TAP1	6890	HP:0200042	Skin ulcer
OMIM:604571	TAP1	6890	HP:0002837	Recurrent bronchitis
OMIM:604571	TAP1	6890	HP:0000389	Chronic otitis media
OMIM:604571	TAP1	6890	HP:0011950	Bronchiolitis
OMIM:604571	TAP1	6890	HP:0011109	Chronic sinusitis
OMIM:604571	TAP1	6890	HP:0002097	Emphysema
OMIM:604571	TAP1	6890	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAP1	6890	HP:0001083	Ectopia lentis
OMIM:604571	TAP2	6891	HP:0002110	Bronchiectasis
OMIM:604571	TAP2	6891	HP:0100582	Nasal polyposis
OMIM:604571	TAP2	6891	HP:0200042	Skin ulcer
OMIM:604571	TAP2	6891	HP:0002837	Recurrent bronchitis
OMIM:604571	TAP2	6891	HP:0000389	Chronic otitis media
OMIM:604571	TAP2	6891	HP:0011950	Bronchiolitis
OMIM:604571	TAP2	6891	HP:0011109	Chronic sinusitis
OMIM:604571	TAP2	6891	HP:0002097	Emphysema
OMIM:604571	TAP2	6891	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAP2	6891	HP:0001083	Ectopia lentis
OMIM:604571	TAPBP	6892	HP:0002110	Bronchiectasis
OMIM:604571	TAPBP	6892	HP:0100582	Nasal polyposis
OMIM:604571	TAPBP	6892	HP:0200042	Skin ulcer
OMIM:604571	TAPBP	6892	HP:0002837	Recurrent bronchitis
OMIM:604571	TAPBP	6892	HP:0000389	Chronic otitis media
OMIM:604571	TAPBP	6892	HP:0011950	Bronchiolitis
OMIM:604571	TAPBP	6892	HP:0011109	Chronic sinusitis
OMIM:604571	TAPBP	6892	HP:0002097	Emphysema
OMIM:604571	TAPBP	6892	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAPBP	6892	HP:0001083	Ectopia lentis
OMIM:600373	LONP1	9361	HP:0000508	Ptosis
OMIM:600373	LONP1	9361	HP:0005280	Depressed nasal bridge
OMIM:600373	LONP1	9361	HP:0001631	Atrial septal defect
OMIM:600373	LONP1	9361	HP:0001561	Polyhydramnios
OMIM:600373	LONP1	9361	HP:0002750	Delayed skeletal maturation
OMIM:600373	LONP1	9361	HP:0001263	Global developmental delay
OMIM:600373	LONP1	9361	HP:0001629	Ventricular septal defect
OMIM:600373	LONP1	9361	HP:0001604	Vocal cord paresis
OMIM:600373	LONP1	9361	HP:0002857	Genu valgum
OMIM:600373	LONP1	9361	HP:0001290	Generalized hypotonia
OMIM:600373	LONP1	9361	HP:0003177	Squared iliac bones
OMIM:600373	LONP1	9361	HP:0004322	Short stature
OMIM:600373	LONP1	9361	HP:0002682	Broad skull
OMIM:600373	LONP1	9361	HP:0003417	Coronal cleft vertebrae
OMIM:600373	LONP1	9361	HP:0000519	Congenital cataract
OMIM:600373	LONP1	9361	HP:0009803	Short phalanx of finger
OMIM:600373	LONP1	9361	HP:0000407	Sensorineural hearing impairment
OMIM:600373	LONP1	9361	HP:0001374	Congenital hip dislocation
OMIM:600373	LONP1	9361	HP:0006695	Atrioventricular canal defect
OMIM:600373	LONP1	9361	HP:0010049	Short metacarpal
OMIM:600373	LONP1	9361	HP:0000684	Delayed eruption of teeth
OMIM:600373	LONP1	9361	HP:0005792	Short humerus
OMIM:600373	LONP1	9361	HP:0003311	Hypoplasia of the odontoid process
OMIM:600373	LONP1	9361	HP:0000007	Autosomal recessive inheritance
OMIM:600373	LONP1	9361	HP:0006297	Hypoplasia of dental enamel
OMIM:600373	LONP1	9361	HP:0008081	Pes valgus
OMIM:600373	LONP1	9361	HP:0001216	Delayed ossification of carpal bones
OMIM:600373	LONP1	9361	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600373	LONP1	9361	HP:0000463	Anteverted nares
OMIM:600373	LONP1	9361	HP:0100255	Metaphyseal dysplasia
ORPHA:100008	CST3	1471	HP:0001342	Cerebral hemorrhage
ORPHA:100008	CST3	1471	HP:0001297	Stroke
ORPHA:100008	CST3	1471	HP:0011970	Cerebral amyloid angiopathy
OMIM:609638	DSP	1832	HP:0001852	Sandal gap
OMIM:609638	DSP	1832	HP:0003811	Neonatal death
OMIM:609638	DSP	1832	HP:0001057	Aplasia cutis congenita
OMIM:609638	DSP	1832	HP:0008094	Widely spaced toes
OMIM:609638	DSP	1832	HP:0000007	Autosomal recessive inheritance
OMIM:609638	DSP	1832	HP:0100792	Acantholysis
OMIM:609638	DSP	1832	HP:0000695	Natal tooth
OMIM:609638	DSP	1832	HP:0004057	Mitten deformity
OMIM:609638	DSP	1832	HP:0200041	Skin erosion
OMIM:609638	DSP	1832	HP:0001798	Anonychia
OMIM:609638	DSP	1832	HP:0002289	Alopecia universalis
OMIM:609638	DSP	1832	HP:0009884	Tapered distal phalanges of finger
OMIM:609638	DSP	1832	HP:0001741	Phimosis
ORPHA:1713	RAI1	10743	HP:0007010	Poor fine motor coordination
ORPHA:1713	RAI1	10743	HP:0000739	Anxiety
ORPHA:1713	RAI1	10743	HP:0002650	Scoliosis
ORPHA:1713	RAI1	10743	HP:0000337	Broad forehead
ORPHA:1713	RAI1	10743	HP:0001256	Intellectual disability, mild
ORPHA:1713	RAI1	10743	HP:0002020	Gastroesophageal reflux
ORPHA:1713	RAI1	10743	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:1713	RAI1	10743	HP:0002357	Dysphasia
ORPHA:1713	RAI1	10743	HP:0002474	Expressive language delay
ORPHA:1713	RAI1	10743	HP:0200136	Oral-pharyngeal dysphagia
ORPHA:1713	RAI1	10743	HP:0010529	Echolalia
ORPHA:1713	RAI1	10743	HP:0011098	Speech apraxia
ORPHA:1713	RAI1	10743	HP:0001252	Muscular hypotonia
ORPHA:1713	RAI1	10743	HP:0008499	High-grade hypermetropia
ORPHA:1713	RAI1	10743	HP:0010535	Sleep apnea
ORPHA:1713	RAI1	10743	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1713	RAI1	10743	HP:0002353	EEG abnormality
ORPHA:1713	RAI1	10743	HP:0001263	Global developmental delay
ORPHA:1713	RAI1	10743	HP:0000717	Autism
ORPHA:1713	RAI1	10743	HP:0002916	Abnormality of chromosome segregation
ORPHA:1713	RAI1	10743	HP:0000347	Micrognathia
ORPHA:1713	RAI1	10743	HP:0000325	Triangular face
ORPHA:1713	RAI1	10743	HP:0001508	Failure to thrive
ORPHA:1713	RAI1	10743	HP:0000494	Downslanted palpebral fissures
ORPHA:1713	RAI1	10743	HP:0001260	Dysarthria
OMIM:233300	FSHR	2492	HP:0000133	Gonadal dysgenesis
OMIM:233300	FSHR	2492	HP:0000837	Increased circulating gonadotropin level
OMIM:233300	FSHR	2492	HP:0000939	Osteoporosis
OMIM:233300	FSHR	2492	HP:0000007	Autosomal recessive inheritance
OMIM:233300	FSHR	2492	HP:0000786	Primary amenorrhea
OMIM:600101	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:600101	KCNQ4	9132	HP:0003676	Progressive
OMIM:600101	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:600101	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:166260	ANO5	203859	HP:0005045	Diaphyseal cortical sclerosis
OMIM:166260	ANO5	203859	HP:0000938	Osteopenia
OMIM:166260	ANO5	203859	HP:0002659	Increased susceptibility to fractures
OMIM:166260	ANO5	203859	HP:0006487	Bowing of the long bones
OMIM:166260	ANO5	203859	HP:0000006	Autosomal dominant inheritance
OMIM:104510	DLX3	1747	HP:0000679	Taurodontia
OMIM:104510	DLX3	1747	HP:0000705	Amelogenesis imperfecta
OMIM:104510	DLX3	1747	HP:0000006	Autosomal dominant inheritance
OMIM:608807	TTN	7273	HP:0002460	Distal muscle weakness
OMIM:608807	TTN	7273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608807	TTN	7273	HP:0003560	Muscular dystrophy
OMIM:608807	TTN	7273	HP:0003701	Proximal muscle weakness
OMIM:608807	TTN	7273	HP:0011463	Childhood onset
OMIM:608807	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:608807	TTN	7273	HP:0003458	EMG: myopathic abnormalities
OMIM:603813	LDLRAP1	26119	HP:0000007	Autosomal recessive inheritance
OMIM:603813	LDLRAP1	26119	HP:0003124	Hypercholesterolemia
OMIM:603813	LDLRAP1	26119	HP:0002621	Atherosclerosis
OMIM:603813	LDLRAP1	26119	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:603813	LDLRAP1	26119	HP:0010874	Tendon xanthomatosis
OMIM:615226	ZNF141	7700	HP:0001162	Postaxial hand polydactyly
OMIM:615226	ZNF141	7700	HP:0000007	Autosomal recessive inheritance
OMIM:615226	ZNF141	7700	HP:0009374	Broad phalanges of the 5th finger
ORPHA:158668	PKP1	5317	HP:0000534	Abnormality of the eyebrow
ORPHA:158668	PKP1	5317	HP:0010783	Erythema
ORPHA:158668	PKP1	5317	HP:0000561	Absent eyelashes
ORPHA:158668	PKP1	5317	HP:0200037	Skin vesicle
ORPHA:158668	PKP1	5317	HP:0000982	Palmoplantar keratoderma
ORPHA:158668	PKP1	5317	HP:0000498	Blepharitis
ORPHA:158668	PKP1	5317	HP:0000989	Pruritus
ORPHA:158668	PKP1	5317	HP:0001508	Failure to thrive
ORPHA:158668	PKP1	5317	HP:0001597	Abnormality of the nail
ORPHA:158668	PKP1	5317	HP:0002028	Chronic diarrhea
ORPHA:158668	PKP1	5317	HP:0002721	Immunodeficiency
ORPHA:158668	PKP1	5317	HP:0001006	Hypotrichosis
ORPHA:158668	PKP1	5317	HP:0001596	Alopecia
ORPHA:158668	PKP1	5317	HP:0000221	Furrowed tongue
ORPHA:158668	PKP1	5317	HP:0200042	Skin ulcer
ORPHA:158668	PKP1	5317	HP:0000958	Dry skin
ORPHA:71526	POMC	5443	HP:0001010	Hypopigmentation of the skin
ORPHA:71526	POMC	5443	HP:0001396	Cholestasis
ORPHA:71526	POMC	5443	HP:0002591	Polyphagia
ORPHA:71526	POMC	5443	HP:0002297	Red hair
ORPHA:71526	POMC	5443	HP:0009126	Increased adipose tissue
ORPHA:71526	POMC	5443	HP:0011734	Central adrenal insufficiency
ORPHA:71526	POMC	5443	HP:0008915	Childhood-onset truncal obesity
OMIM:617393	NACC1	112939	HP:0000518	Cataract
OMIM:617393	NACC1	112939	HP:0000455	Broad nasal tip
OMIM:617393	NACC1	112939	HP:0001249	Intellectual disability
OMIM:617393	NACC1	112939	HP:0001257	Spasticity
OMIM:617393	NACC1	112939	HP:0001344	Absent speech
OMIM:617393	NACC1	112939	HP:0002059	Cerebral atrophy
OMIM:617393	NACC1	112939	HP:0002650	Scoliosis
OMIM:617393	NACC1	112939	HP:0002355	Difficulty walking
OMIM:617393	NACC1	112939	HP:0001290	Generalized hypotonia
OMIM:617393	NACC1	112939	HP:0001508	Failure to thrive
OMIM:617393	NACC1	112939	HP:0011968	Feeding difficulties
OMIM:617393	NACC1	112939	HP:0000006	Autosomal dominant inheritance
OMIM:617393	NACC1	112939	HP:0000733	Stereotypy
OMIM:617393	NACC1	112939	HP:0001250	Seizures
OMIM:617393	NACC1	112939	HP:0001263	Global developmental delay
OMIM:617393	NACC1	112939	HP:0001371	Flexion contracture
OMIM:617393	NACC1	112939	HP:0000737	Irritability
OMIM:617393	NACC1	112939	HP:0002421	Poor head control
OMIM:617393	NACC1	112939	HP:0012448	Delayed myelination
OMIM:617393	NACC1	112939	HP:0000252	Microcephaly
OMIM:616828	CCDC115	84317	HP:0000007	Autosomal recessive inheritance
OMIM:616828	CCDC115	84317	HP:0003202	Skeletal muscle atrophy
OMIM:616828	CCDC115	84317	HP:0002611	Cholestatic liver disease
OMIM:616828	CCDC115	84317	HP:0001744	Splenomegaly
OMIM:616828	CCDC115	84317	HP:0002240	Hepatomegaly
OMIM:616828	CCDC115	84317	HP:0025321	Copper accumulation in liver
OMIM:616828	CCDC115	84317	HP:0001394	Cirrhosis
OMIM:616828	CCDC115	84317	HP:0003593	Infantile onset
OMIM:616828	CCDC115	84317	HP:0006579	Prolonged neonatal jaundice
OMIM:613224	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:613224	NRAS	4893	HP:0004322	Short stature
OMIM:613224	NRAS	4893	HP:0002212	Curly hair
OMIM:613224	NRAS	4893	HP:0000465	Webbed neck
OMIM:613224	NRAS	4893	HP:0000316	Hypertelorism
OMIM:613224	NRAS	4893	HP:0000962	Hyperkeratosis
OMIM:613224	NRAS	4893	HP:0000369	Low-set ears
OMIM:613224	NRAS	4893	HP:0001290	Generalized hypotonia
OMIM:613224	NRAS	4893	HP:0001555	Asymmetry of the thorax
OMIM:607636	LRP5	4041	HP:0000935	Thickened cortex of long bones
OMIM:607636	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:607636	LRP5	4041	HP:0000303	Mandibular prognathia
OMIM:607636	LRP5	4041	HP:0002684	Thickened calvaria
ORPHA:234	ABCC2	1244	HP:0000952	Jaundice
ORPHA:234	ABCC2	1244	HP:0001080	Biliary tract abnormality
ORPHA:234	ABCC2	1244	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:234	ABCC2	1244	HP:0004295	Abnormality of the gastric mucosa
ORPHA:234	ABCC2	1244	HP:0012086	Abnormal urinary color
OMIM:613978	HBA2	3040	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:613978	HBA2	3040	HP:0001878	Hemolytic anemia
OMIM:613978	HBA2	3040	HP:0011903	Hemoglobin H
OMIM:613978	HBA2	3040	HP:0001744	Splenomegaly
OMIM:613978	HBA2	3040	HP:0002240	Hepatomegaly
OMIM:613978	HBA1	3039	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:613978	HBA1	3039	HP:0001878	Hemolytic anemia
OMIM:613978	HBA1	3039	HP:0011903	Hemoglobin H
OMIM:613978	HBA1	3039	HP:0001744	Splenomegaly
OMIM:613978	HBA1	3039	HP:0002240	Hepatomegaly
OMIM:614055	ACAT2	39	HP:0001290	Generalized hypotonia
OMIM:614055	ACAT2	39	HP:0003542	Increased serum pyruvate
OMIM:614055	ACAT2	39	HP:0003745	Sporadic
OMIM:614055	ACAT2	39	HP:0001263	Global developmental delay
OMIM:614055	ACAT2	39	HP:0002072	Chorea
OMIM:614055	ACAT2	39	HP:0002151	Increased serum lactate
OMIM:255995	STAC3	246329	HP:0005775	Multiple skeletal anomalies
OMIM:255995	STAC3	246329	HP:0002058	Myopathic facies
OMIM:255995	STAC3	246329	HP:0000506	Telecanthus
OMIM:255995	STAC3	246329	HP:0001265	Hyporeflexia
OMIM:255995	STAC3	246329	HP:0000508	Ptosis
OMIM:255995	STAC3	246329	HP:0002714	Downturned corners of mouth
OMIM:255995	STAC3	246329	HP:0000218	High palate
OMIM:255995	STAC3	246329	HP:0002751	Kyphoscoliosis
OMIM:255995	STAC3	246329	HP:0000347	Micrognathia
OMIM:255995	STAC3	246329	HP:0001371	Flexion contracture
OMIM:255995	STAC3	246329	HP:0000494	Downslanted palpebral fissures
OMIM:255995	STAC3	246329	HP:0002047	Malignant hyperthermia
OMIM:255995	STAC3	246329	HP:0001324	Muscle weakness
OMIM:255995	STAC3	246329	HP:0004322	Short stature
OMIM:255995	STAC3	246329	HP:0012745	Short palpebral fissure
OMIM:255995	STAC3	246329	HP:0000007	Autosomal recessive inheritance
OMIM:255995	STAC3	246329	HP:0000028	Cryptorchidism
OMIM:255995	STAC3	246329	HP:0000175	Cleft palate
OMIM:255995	STAC3	246329	HP:0001883	Talipes
OMIM:255995	STAC3	246329	HP:0003202	Skeletal muscle atrophy
OMIM:255995	STAC3	246329	HP:0011968	Feeding difficulties
OMIM:255995	STAC3	246329	HP:0000369	Low-set ears
OMIM:255995	STAC3	246329	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:255995	STAC3	246329	HP:0000581	Blepharophimosis
OMIM:616562	BBS2	583	HP:0000543	Optic disc pallor
OMIM:616562	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:616562	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:616562	BBS2	583	HP:0001115	Posterior polar cataract
OMIM:616562	BBS2	583	HP:0001133	Constriction of peripheral visual field
ORPHA:3451	PLCB1	23236	HP:0012469	Infantile spasms
ORPHA:3451	PLCB1	23236	HP:0001336	Myoclonus
ORPHA:3451	PLCB1	23236	HP:0002521	Hypsarrhythmia
ORPHA:3451	PLCB1	23236	HP:0002376	Developmental regression
ORPHA:3451	PLCB1	23236	HP:0011121	Abnormality of skin morphology
ORPHA:3451	SPTAN1	6709	HP:0012469	Infantile spasms
ORPHA:3451	SPTAN1	6709	HP:0001336	Myoclonus
ORPHA:3451	SPTAN1	6709	HP:0002521	Hypsarrhythmia
ORPHA:3451	SPTAN1	6709	HP:0002376	Developmental regression
ORPHA:3451	SPTAN1	6709	HP:0011121	Abnormality of skin morphology
ORPHA:3451	SCN2A	6326	HP:0012469	Infantile spasms
ORPHA:3451	SCN2A	6326	HP:0001336	Myoclonus
ORPHA:3451	SCN2A	6326	HP:0002521	Hypsarrhythmia
ORPHA:3451	SCN2A	6326	HP:0002376	Developmental regression
ORPHA:3451	SCN2A	6326	HP:0011121	Abnormality of skin morphology
ORPHA:3451	ST3GAL3	6487	HP:0012469	Infantile spasms
ORPHA:3451	ST3GAL3	6487	HP:0001336	Myoclonus
ORPHA:3451	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
ORPHA:3451	ST3GAL3	6487	HP:0002376	Developmental regression
ORPHA:3451	ST3GAL3	6487	HP:0011121	Abnormality of skin morphology
ORPHA:3451	CDKL5	6792	HP:0012469	Infantile spasms
ORPHA:3451	CDKL5	6792	HP:0001336	Myoclonus
ORPHA:3451	CDKL5	6792	HP:0002521	Hypsarrhythmia
ORPHA:3451	CDKL5	6792	HP:0002376	Developmental regression
ORPHA:3451	CDKL5	6792	HP:0011121	Abnormality of skin morphology
ORPHA:3451	GRIN2B	2904	HP:0012469	Infantile spasms
ORPHA:3451	GRIN2B	2904	HP:0001336	Myoclonus
ORPHA:3451	GRIN2B	2904	HP:0002521	Hypsarrhythmia
ORPHA:3451	GRIN2B	2904	HP:0002376	Developmental regression
ORPHA:3451	GRIN2B	2904	HP:0011121	Abnormality of skin morphology
ORPHA:3451	ARX	170302	HP:0012469	Infantile spasms
ORPHA:3451	ARX	170302	HP:0001336	Myoclonus
ORPHA:3451	ARX	170302	HP:0002521	Hypsarrhythmia
ORPHA:3451	ARX	170302	HP:0002376	Developmental regression
ORPHA:3451	ARX	170302	HP:0011121	Abnormality of skin morphology
ORPHA:3451	SIK1	150094	HP:0012469	Infantile spasms
ORPHA:3451	SIK1	150094	HP:0001336	Myoclonus
ORPHA:3451	SIK1	150094	HP:0002521	Hypsarrhythmia
ORPHA:3451	SIK1	150094	HP:0002376	Developmental regression
ORPHA:3451	SIK1	150094	HP:0011121	Abnormality of skin morphology
ORPHA:3451	PIGA	5277	HP:0012469	Infantile spasms
ORPHA:3451	PIGA	5277	HP:0001336	Myoclonus
ORPHA:3451	PIGA	5277	HP:0002521	Hypsarrhythmia
ORPHA:3451	PIGA	5277	HP:0002376	Developmental regression
ORPHA:3451	PIGA	5277	HP:0011121	Abnormality of skin morphology
ORPHA:3451	GUF1	60558	HP:0012469	Infantile spasms
ORPHA:3451	GUF1	60558	HP:0001336	Myoclonus
ORPHA:3451	GUF1	60558	HP:0002521	Hypsarrhythmia
ORPHA:3451	GUF1	60558	HP:0002376	Developmental regression
ORPHA:3451	GUF1	60558	HP:0011121	Abnormality of skin morphology
OMIM:201750	POR	5447	HP:0000377	Abnormality of the pinna
OMIM:201750	POR	5447	HP:0001363	Craniosynostosis
OMIM:201750	POR	5447	HP:0000452	Choanal stenosis
OMIM:201750	POR	5447	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201750	POR	5447	HP:0002937	Hemivertebrae
OMIM:201750	POR	5447	HP:0000066	Labial hypoplasia
OMIM:201750	POR	5447	HP:0000405	Conductive hearing impairment
OMIM:201750	POR	5447	HP:0000041	Chordee
OMIM:201750	POR	5447	HP:0000248	Brachycephaly
OMIM:201750	POR	5447	HP:0003041	Humeroradial synostosis
OMIM:201750	POR	5447	HP:0000272	Malar flattening
OMIM:201750	POR	5447	HP:0001601	Laryngomalacia
OMIM:201750	POR	5447	HP:0003031	Ulnar bowing
OMIM:201750	POR	5447	HP:0002980	Femoral bowing
OMIM:201750	POR	5447	HP:0000028	Cryptorchidism
OMIM:201750	POR	5447	HP:0009473	Joint contracture of the hand
OMIM:201750	POR	5447	HP:0012385	Camptodactyly
OMIM:201750	POR	5447	HP:0008072	Maternal virilization in pregnancy
OMIM:201750	POR	5447	HP:0000316	Hypertelorism
OMIM:201750	POR	5447	HP:0000046	Scrotal hypoplasia
OMIM:201750	POR	5447	HP:0001562	Oligohydramnios
OMIM:201750	POR	5447	HP:0000252	Microcephaly
OMIM:201750	POR	5447	HP:0009702	Carpal synostosis
OMIM:201750	POR	5447	HP:0001838	Rocker bottom foot
OMIM:201750	POR	5447	HP:0001518	Small for gestational age
OMIM:201750	POR	5447	HP:0002007	Frontal bossing
OMIM:201750	POR	5447	HP:0000054	Micropenis
OMIM:201750	POR	5447	HP:0002676	Cloverleaf skull
OMIM:201750	POR	5447	HP:0000047	Hypospadias
OMIM:201750	POR	5447	HP:0002308	Arnold-Chiari malformation
OMIM:201750	POR	5447	HP:0000007	Autosomal recessive inheritance
OMIM:201750	POR	5447	HP:0008665	Clitoral hypertrophy
OMIM:201750	POR	5447	HP:0000048	Bifid scrotum
OMIM:201750	POR	5447	HP:0011800	Midface retrusion
OMIM:201750	POR	5447	HP:0002974	Radioulnar synostosis
OMIM:201750	POR	5447	HP:0002650	Scoliosis
OMIM:201750	POR	5447	HP:0001194	Abnormalities of placenta or umbilical cord
OMIM:201750	POR	5447	HP:0001166	Arachnodactyly
OMIM:201750	POR	5447	HP:0000147	Polycystic ovaries
OMIM:201750	POR	5447	HP:0001438	Abnormality of abdomen morphology
OMIM:201750	POR	5447	HP:0008368	Tarsal synostosis
OMIM:201750	POR	5447	HP:0000520	Proptosis
OMIM:201750	POR	5447	HP:0002780	Bronchomalacia
OMIM:201750	POR	5447	HP:0000085	Horseshoe kidney
OMIM:201750	POR	5447	HP:0008073	Low maternal serum estriol
OMIM:201750	POR	5447	HP:0000818	Abnormality of the endocrine system
OMIM:201750	POR	5447	HP:0005280	Depressed nasal bridge
OMIM:201750	POR	5447	HP:0000453	Choanal atresia
OMIM:201750	POR	5447	HP:0001586	Vesicovaginal fistula
OMIM:617121	MKS1	54903	HP:0000639	Nystagmus
OMIM:617121	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:617121	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:617121	MKS1	54903	HP:0001263	Global developmental delay
OMIM:617121	MKS1	54903	HP:0001290	Generalized hypotonia
OMIM:617121	MKS1	54903	HP:0001249	Intellectual disability
OMIM:617121	MKS1	54903	HP:0001251	Ataxia
OMIM:615731	KLHL41	10324	HP:0000007	Autosomal recessive inheritance
OMIM:615731	KLHL41	10324	HP:0001270	Motor delay
OMIM:615731	KLHL41	10324	HP:0003828	Variable expressivity
OMIM:615731	KLHL41	10324	HP:0001324	Muscle weakness
OMIM:616165	LMOD3	56203	HP:0006829	Severe muscular hypotonia
OMIM:616165	LMOD3	56203	HP:0000007	Autosomal recessive inheritance
OMIM:616165	LMOD3	56203	HP:0001558	Decreased fetal movement
OMIM:616165	LMOD3	56203	HP:0010628	Facial palsy
OMIM:616165	LMOD3	56203	HP:0001622	Premature birth
OMIM:616165	LMOD3	56203	HP:0000602	Ophthalmoplegia
OMIM:616165	LMOD3	56203	HP:0001561	Polyhydramnios
OMIM:616165	LMOD3	56203	HP:0003324	Generalized muscle weakness
OMIM:616165	LMOD3	56203	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616165	LMOD3	56203	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:616165	LMOD3	56203	HP:0001290	Generalized hypotonia
OMIM:616165	LMOD3	56203	HP:0001283	Bulbar palsy
OMIM:616165	LMOD3	56203	HP:0003202	Skeletal muscle atrophy
OMIM:120790	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:120790	SERPING1	710	HP:0000006	Autosomal dominant inheritance
OMIM:311070	PRPS1	5631	HP:0003383	Onion bulb formation
OMIM:311070	PRPS1	5631	HP:0003693	Distal amyotrophy
OMIM:311070	PRPS1	5631	HP:0002460	Distal muscle weakness
OMIM:311070	PRPS1	5631	HP:0001288	Gait disturbance
OMIM:311070	PRPS1	5631	HP:0001270	Motor delay
OMIM:311070	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:311070	PRPS1	5631	HP:0000648	Optic atrophy
OMIM:311070	PRPS1	5631	HP:0001271	Polyneuropathy
OMIM:311070	PRPS1	5631	HP:0003828	Variable expressivity
OMIM:311070	PRPS1	5631	HP:0001761	Pes cavus
OMIM:311070	PRPS1	5631	HP:0011463	Childhood onset
OMIM:311070	PRPS1	5631	HP:0002936	Distal sensory impairment
OMIM:311070	PRPS1	5631	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:311070	PRPS1	5631	HP:0002522	Areflexia of lower limbs
OMIM:311070	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:311070	PRPS1	5631	HP:0000529	Progressive visual loss
ORPHA:95699	POR	5447	HP:0000037	Male pseudohermaphroditism
ORPHA:95699	POR	5447	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:95699	POR	5447	HP:0012041	Decreased fertility in males
ORPHA:95699	POR	5447	HP:0000939	Osteoporosis
ORPHA:95699	POR	5447	HP:0008734	Decreased testicular size
ORPHA:95699	POR	5447	HP:0000048	Bifid scrotum
ORPHA:95699	POR	5447	HP:0008726	Hypoplasia of the vagina
ORPHA:95699	POR	5447	HP:0000054	Micropenis
ORPHA:95699	POR	5447	HP:0000061	Ambiguous genitalia, female
ORPHA:95699	POR	5447	HP:0003154	Increased circulating ACTH level
ORPHA:95699	POR	5447	HP:0008675	Enlarged polycystic ovaries
ORPHA:95699	POR	5447	HP:0005616	Accelerated skeletal maturation
ORPHA:95699	POR	5447	HP:0012244	Abnormal sex determination
ORPHA:95699	POR	5447	HP:0001371	Flexion contracture
ORPHA:95699	POR	5447	HP:0001166	Arachnodactyly
ORPHA:95699	POR	5447	HP:0004322	Short stature
ORPHA:95699	POR	5447	HP:0008072	Maternal virilization in pregnancy
ORPHA:95699	POR	5447	HP:0000452	Choanal stenosis
ORPHA:95699	POR	5447	HP:0030258	Hyperpigmented genitalia
ORPHA:95699	POR	5447	HP:0000098	Tall stature
ORPHA:95699	POR	5447	HP:0007440	Generalized hyperpigmentation
ORPHA:95699	POR	5447	HP:0012881	Abnormality of the labia majora
ORPHA:95699	POR	5447	HP:0040171	Decreased serum testosterone level
ORPHA:95699	POR	5447	HP:0000447	Pear-shaped nose
ORPHA:95699	POR	5447	HP:0000868	Decreased fertility in females
ORPHA:95699	POR	5447	HP:0008163	Decreased circulating cortisol level
ORPHA:95699	POR	5447	HP:0011800	Midface retrusion
ORPHA:95699	POR	5447	HP:0000033	Ambiguous genitalia, male
ORPHA:95699	POR	5447	HP:0002750	Delayed skeletal maturation
ORPHA:95699	POR	5447	HP:0030014	Female sexual dysfunction
ORPHA:95699	POR	5447	HP:0000028	Cryptorchidism
ORPHA:95699	POR	5447	HP:0001363	Craniosynostosis
ORPHA:95699	POR	5447	HP:0000140	Abnormality of the menstrual cycle
ORPHA:95699	POR	5447	HP:0000369	Low-set ears
ORPHA:95699	POR	5447	HP:0030084	Clinodactyly
ORPHA:95699	POR	5447	HP:0012412	Premature adrenarche
ORPHA:95699	POR	5447	HP:0000051	Perineal hypospadias
ORPHA:95699	POR	5447	HP:0008258	Congenital adrenal hyperplasia
ORPHA:95699	POR	5447	HP:0008226	Androgen insufficiency
ORPHA:95699	POR	5447	HP:0000840	Adrenogenital syndrome
ORPHA:95699	POR	5447	HP:0030088	Increased serum testosterone level
ORPHA:95699	POR	5447	HP:0100779	Urogenital sinus anomaly
ORPHA:95699	POR	5447	HP:0000823	Delayed puberty
ORPHA:95699	POR	5447	HP:0008665	Clitoral hypertrophy
ORPHA:95699	POR	5447	HP:0008187	Absence of secondary sex characteristics
ORPHA:95699	POR	5447	HP:0011742	Ectopic adrenal gland
ORPHA:95699	POR	5447	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:95699	POR	5447	HP:0000453	Choanal atresia
ORPHA:95699	POR	5447	HP:0008214	Decreased serum estradiol
OMIM:122600	TBX6	6911	HP:0002650	Scoliosis
OMIM:122600	TBX6	6911	HP:0005815	Supernumerary ribs
OMIM:122600	TBX6	6911	HP:0003419	Low back pain
OMIM:122600	TBX6	6911	HP:0003510	Severe short stature
OMIM:122600	TBX6	6911	HP:0003316	Butterfly vertebrae
OMIM:122600	TBX6	6911	HP:0000913	Posterior rib fusion
OMIM:122600	TBX6	6911	HP:0002937	Hemivertebrae
OMIM:122600	TBX6	6911	HP:0002948	Vertebral fusion
OMIM:122600	TBX6	6911	HP:0000921	Missing ribs
OMIM:122600	TBX6	6911	HP:0003521	Disproportionate short-trunk short stature
OMIM:122600	TBX6	6911	HP:0000006	Autosomal dominant inheritance
OMIM:122600	TBX6	6911	HP:0000007	Autosomal recessive inheritance
ORPHA:100050	SERPING1	710	HP:0002018	Nausea
ORPHA:100050	SERPING1	710	HP:0011971	Dermatographic urticaria
ORPHA:100050	SERPING1	710	HP:0002014	Diarrhea
ORPHA:100050	SERPING1	710	HP:0003401	Paresthesia
ORPHA:100050	SERPING1	710	HP:0100755	Abnormality of salivation
ORPHA:100050	SERPING1	710	HP:0005225	Intestinal edema
ORPHA:100050	SERPING1	710	HP:0002027	Abdominal pain
ORPHA:100050	SERPING1	710	HP:0002013	Vomiting
ORPHA:100050	SERPING1	710	HP:0002015	Dysphagia
ORPHA:100050	SERPING1	710	HP:0025349	Limbal edema
ORPHA:100050	SERPING1	710	HP:0000282	Facial edema
ORPHA:100050	SERPING1	710	HP:0007514	Edema of the dorsum of hands
ORPHA:100050	SERPING1	710	HP:0012027	Laryngeal edema
ORPHA:100050	SERPING1	710	HP:0040315	Tongue edema
OMIM:614008	BANF1	8815	HP:0005585	Spotty hyperpigmentation
OMIM:614008	BANF1	8815	HP:0100578	Lipoatrophy
OMIM:614008	BANF1	8815	HP:0001387	Joint stiffness
OMIM:614008	BANF1	8815	HP:0000272	Malar flattening
OMIM:614008	BANF1	8815	HP:0011703	Sinus tachycardia
OMIM:614008	BANF1	8815	HP:0004322	Short stature
OMIM:614008	BANF1	8815	HP:0000535	Sparse and thin eyebrow
OMIM:614008	BANF1	8815	HP:0002621	Atherosclerosis
OMIM:614008	BANF1	8815	HP:0000772	Abnormality of the ribs
OMIM:614008	BANF1	8815	HP:0000653	Sparse eyelashes
OMIM:614008	BANF1	8815	HP:0001371	Flexion contracture
OMIM:614008	BANF1	8815	HP:0000347	Micrognathia
OMIM:614008	BANF1	8815	HP:0011712	Right bundle branch block
OMIM:614008	BANF1	8815	HP:0002092	Pulmonary arterial hypertension
OMIM:614008	BANF1	8815	HP:0001508	Failure to thrive
OMIM:614008	BANF1	8815	HP:0000444	Convex nasal ridge
OMIM:614008	BANF1	8815	HP:0002973	Abnormality of the forearm
OMIM:614008	BANF1	8815	HP:0011800	Midface retrusion
OMIM:614008	BANF1	8815	HP:0009839	Osteolytic defects of the distal phalanges of the hand
OMIM:614008	BANF1	8815	HP:0000520	Proptosis
OMIM:614008	BANF1	8815	HP:0000905	Progressive clavicular acroosteolysis
OMIM:614008	BANF1	8815	HP:0000939	Osteoporosis
OMIM:614008	BANF1	8815	HP:0000678	Dental crowding
OMIM:614008	BANF1	8815	HP:0010537	Wide cranial sutures
OMIM:614008	BANF1	8815	HP:0000007	Autosomal recessive inheritance
OMIM:614008	BANF1	8815	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:614008	BANF1	8815	HP:0002650	Scoliosis
OMIM:607616	SMPD1	6609	HP:0001103	Abnormal macular morphology
OMIM:607616	SMPD1	6609	HP:0002205	Recurrent respiratory infections
OMIM:607616	SMPD1	6609	HP:0004322	Short stature
OMIM:607616	SMPD1	6609	HP:0004333	Bone-marrow foam cells
OMIM:607616	SMPD1	6609	HP:0003609	Foam cells with lamellar inclusion bodies
OMIM:607616	SMPD1	6609	HP:0002207	Diffuse reticular or finely nodular infiltrations
OMIM:607616	SMPD1	6609	HP:0003812	Phenotypic variability
OMIM:607616	SMPD1	6609	HP:0001982	Sea-blue histiocytosis
OMIM:607616	SMPD1	6609	HP:0002094	Dyspnea
OMIM:607616	SMPD1	6609	HP:0001744	Splenomegaly
OMIM:607616	SMPD1	6609	HP:0002155	Hypertriglyceridemia
OMIM:607616	SMPD1	6609	HP:0003141	Increased circulating low-density lipoprotein levels
OMIM:607616	SMPD1	6609	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:607616	SMPD1	6609	HP:0003621	Juvenile onset
OMIM:607616	SMPD1	6609	HP:0000007	Autosomal recessive inheritance
OMIM:607616	SMPD1	6609	HP:0002240	Hepatomegaly
OMIM:613116	HRG	3273	HP:0000006	Autosomal dominant inheritance
OMIM:613116	HRG	3273	HP:0001977	Abnormal thrombosis
OMIM:613116	HRG	3273	HP:0004831	Recurrent thromboembolism
OMIM:613116	HRG	3273	HP:0100724	Hypercoagulability
OMIM:264800	ABCC6	368	HP:0000007	Autosomal recessive inheritance
OMIM:264800	ABCC6	368	HP:0001723	Restrictive cardiomyopathy
OMIM:264800	ABCC6	368	HP:0004417	Intermittent claudication
OMIM:264800	ABCC6	368	HP:0001034	Hypermelanotic macule
OMIM:264800	ABCC6	368	HP:0001297	Stroke
OMIM:264800	ABCC6	368	HP:0001634	Mitral valve prolapse
OMIM:264800	ABCC6	368	HP:0004943	Accelerated atherosclerosis
OMIM:264800	ABCC6	368	HP:0000505	Visual impairment
OMIM:264800	ABCC6	368	HP:0007663	Reduced visual acuity
OMIM:264800	ABCC6	368	HP:0000573	Retinal hemorrhage
OMIM:264800	ABCC6	368	HP:0001102	Angioid streaks of the retina
OMIM:264800	ABCC6	368	HP:0025115	Civatte bodies
OMIM:264800	ABCC6	368	HP:0000153	Abnormality of the mouth
OMIM:264800	ABCC6	368	HP:0002239	Gastrointestinal hemorrhage
OMIM:264800	ABCC6	368	HP:0001718	Mitral stenosis
OMIM:264800	ABCC6	368	HP:0001681	Angina pectoris
OMIM:264800	ABCC6	368	HP:0001635	Congestive heart failure
OMIM:264800	ABCC6	368	HP:0000608	Macular degeneration
OMIM:264800	ABCC6	368	HP:0000083	Renal insufficiency
OMIM:243700	DOCK8	81704	HP:0003593	Infantile onset
OMIM:243700	DOCK8	81704	HP:0005425	Recurrent sinopulmonary infections
OMIM:243700	DOCK8	81704	HP:0000964	Eczema
OMIM:243700	DOCK8	81704	HP:0000007	Autosomal recessive inheritance
OMIM:243700	DOCK8	81704	HP:0001047	Atopic dermatitis
OMIM:243700	DOCK8	81704	HP:0004429	Recurrent viral infections
OMIM:243700	DOCK8	81704	HP:0002301	Hemiplegia
OMIM:243700	DOCK8	81704	HP:0002099	Asthma
OMIM:243700	DOCK8	81704	HP:0002718	Recurrent bacterial infections
OMIM:243700	DOCK8	81704	HP:0002841	Recurrent fungal infections
OMIM:243700	DOCK8	81704	HP:0001880	Eosinophilia
OMIM:243700	DOCK8	81704	HP:0005318	Cerebral vasculitis
OMIM:243700	DOCK8	81704	HP:0002664	Neoplasm
OMIM:243700	DOCK8	81704	HP:0002138	Subarachnoid hemorrhage
OMIM:609620	KCNH2	3757	HP:0001695	Cardiac arrest
OMIM:609620	KCNH2	3757	HP:0012232	Shortened QT interval
OMIM:609620	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:609620	KCNH2	3757	HP:0001279	Syncope
OMIM:609620	KCNH2	3757	HP:0001962	Palpitations
OMIM:613985	HBB	3043	HP:0011906	Reduced beta/alpha synthesis ratio
OMIM:613985	HBB	3043	HP:0004840	Hypochromic microcytic anemia
OMIM:613985	HBB-LCR	109580095	HP:0011906	Reduced beta/alpha synthesis ratio
OMIM:613985	HBB-LCR	109580095	HP:0004840	Hypochromic microcytic anemia
OMIM:614976	MEGF8	1954	HP:0001762	Talipes equinovarus
OMIM:614976	MEGF8	1954	HP:0000973	Cutis laxa
OMIM:614976	MEGF8	1954	HP:0000316	Hypertelorism
OMIM:614976	MEGF8	1954	HP:0000189	Narrow palate
OMIM:614976	MEGF8	1954	HP:0000767	Pectus excavatum
OMIM:614976	MEGF8	1954	HP:0000028	Cryptorchidism
OMIM:614976	MEGF8	1954	HP:0000463	Anteverted nares
OMIM:614976	MEGF8	1954	HP:0000218	High palate
OMIM:614976	MEGF8	1954	HP:0005280	Depressed nasal bridge
OMIM:614976	MEGF8	1954	HP:0100258	Preaxial polydactyly
OMIM:614976	MEGF8	1954	HP:0010554	Cutaneous finger syndactyly
OMIM:614976	MEGF8	1954	HP:0001263	Global developmental delay
OMIM:614976	MEGF8	1954	HP:0011304	Broad thumb
OMIM:614976	MEGF8	1954	HP:0000470	Short neck
OMIM:614976	MEGF8	1954	HP:0000768	Pectus carinatum
OMIM:614976	MEGF8	1954	HP:0001363	Craniosynostosis
OMIM:614976	MEGF8	1954	HP:0000582	Upslanted palpebral fissure
OMIM:614976	MEGF8	1954	HP:0000369	Low-set ears
OMIM:614976	MEGF8	1954	HP:0006610	Wide intermamillary distance
OMIM:614976	MEGF8	1954	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:614976	MEGF8	1954	HP:0011800	Midface retrusion
OMIM:614976	MEGF8	1954	HP:0000007	Autosomal recessive inheritance
OMIM:614976	MEGF8	1954	HP:0000535	Sparse and thin eyebrow
OMIM:614976	MEGF8	1954	HP:0001643	Patent ductus arteriosus
OMIM:614976	MEGF8	1954	HP:0002553	Highly arched eyebrow
OMIM:614976	MEGF8	1954	HP:0002558	Supernumerary nipple
OMIM:614976	MEGF8	1954	HP:0000431	Wide nasal bridge
OMIM:614976	MEGF8	1954	HP:0012385	Camptodactyly
OMIM:614976	MEGF8	1954	HP:0002557	Hypoplastic nipples
OMIM:614976	MEGF8	1954	HP:0000286	Epicanthus
OMIM:614976	MEGF8	1954	HP:0001156	Brachydactyly
OMIM:614976	MEGF8	1954	HP:0001513	Obesity
OMIM:614379	C4B	721	HP:0001287	Meningitis
OMIM:614379	C4B	721	HP:0045044	Decreased serum complement C4b
OMIM:614379	C4B	721	HP:0200120	Chronic active hepatitis
OMIM:219000	FRAS1	80144	HP:0000430	Underdeveloped nasal alae
OMIM:219000	FRAS1	80144	HP:0001627	Abnormal heart morphology
OMIM:219000	FRAS1	80144	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	FRAS1	80144	HP:0000561	Absent eyelashes
OMIM:219000	FRAS1	80144	HP:0000369	Low-set ears
OMIM:219000	FRAS1	80144	HP:0002223	Absent eyebrow
OMIM:219000	FRAS1	80144	HP:0002475	Myelomeningocele
OMIM:219000	FRAS1	80144	HP:0000252	Microcephaly
OMIM:219000	FRAS1	80144	HP:0007957	Corneal opacity
OMIM:219000	FRAS1	80144	HP:0001602	Laryngeal stenosis
OMIM:219000	FRAS1	80144	HP:0000316	Hypertelorism
OMIM:219000	FRAS1	80144	HP:0000148	Vaginal atresia
OMIM:219000	FRAS1	80144	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	FRAS1	80144	HP:0000813	Bicornuate uterus
OMIM:219000	FRAS1	80144	HP:0000445	Wide nose
OMIM:219000	FRAS1	80144	HP:0007633	Bilateral microphthalmos
OMIM:219000	FRAS1	80144	HP:0001249	Intellectual disability
OMIM:219000	FRAS1	80144	HP:0000089	Renal hypoplasia
OMIM:219000	FRAS1	80144	HP:0000047	Hypospadias
OMIM:219000	FRAS1	80144	HP:0000007	Autosomal recessive inheritance
OMIM:219000	FRAS1	80144	HP:0000689	Dental malocclusion
OMIM:219000	FRAS1	80144	HP:0000618	Blindness
OMIM:219000	FRAS1	80144	HP:0001607	Subglottic stenosis
OMIM:219000	FRAS1	80144	HP:0000378	Cupped ear
OMIM:219000	FRAS1	80144	HP:0002089	Pulmonary hypoplasia
OMIM:219000	FRAS1	80144	HP:0000175	Cleft palate
OMIM:219000	FRAS1	80144	HP:0002084	Encephalocele
OMIM:219000	FRAS1	80144	HP:0000028	Cryptorchidism
OMIM:219000	FRAS1	80144	HP:0000678	Dental crowding
OMIM:219000	FRAS1	80144	HP:0000413	Atresia of the external auditory canal
OMIM:219000	FRAS1	80144	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	FRAS1	80144	HP:0001551	Abnormality of the umbilicus
OMIM:219000	FRAS1	80144	HP:0000528	Anophthalmia
OMIM:219000	FRAS1	80144	HP:0000777	Abnormality of the thymus
OMIM:219000	FRAS1	80144	HP:0002244	Abnormality of the small intestine
OMIM:219000	FRAS1	80144	HP:0008559	Hypoplastic superior helix
OMIM:219000	FRAS1	80144	HP:0006610	Wide intermamillary distance
OMIM:219000	FRAS1	80144	HP:0008665	Clitoral hypertrophy
OMIM:219000	FRAS1	80144	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	FRAS1	80144	HP:0000636	Upper eyelid coloboma
OMIM:219000	FRAS1	80144	HP:0005352	Severe T-cell immunodeficiency
OMIM:219000	FRAS1	80144	HP:0007993	Malformed lacrimal ducts
OMIM:219000	FRAS1	80144	HP:0003191	Cleft ala nasi
OMIM:219000	FRAS1	80144	HP:0000431	Wide nasal bridge
OMIM:219000	FRAS1	80144	HP:0005280	Depressed nasal bridge
OMIM:219000	FRAS1	80144	HP:0003183	Wide pubic symphysis
OMIM:219000	FRAS1	80144	HP:0000405	Conductive hearing impairment
OMIM:219000	FRAS1	80144	HP:0004112	Midline nasal groove
OMIM:219000	FRAS1	80144	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	FRAS1	80144	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	FRAS1	80144	HP:0007925	Lacrimal duct aplasia
OMIM:219000	FRAS1	80144	HP:0005950	Laryngeal web
OMIM:219000	FRAS1	80144	HP:0000183	Difficulty in tongue movements
OMIM:219000	FRAS1	80144	HP:0000238	Hydrocephalus
OMIM:219000	FRAS1	80144	HP:0002536	Abnormal cortical gyration
OMIM:219000	FRAS1	80144	HP:0000054	Micropenis
OMIM:219000	FRAS1	80144	HP:0000204	Cleft upper lip
OMIM:219000	FRAS1	80144	HP:0000377	Abnormality of the pinna
OMIM:219000	FRAS1	80144	HP:0001362	Calvarial skull defect
OMIM:219000	FRAS1	80144	HP:0004378	Abnormality of the anus
OMIM:219000	FRAS1	80144	HP:0001126	Cryptophthalmos
OMIM:219000	FRAS1	80144	HP:0005325	Extension of hair growth on temples to lateral eyebrow
OMIM:219000	FRAS1	80144	HP:0008750	Laryngeal atresia
OMIM:219000	FRAS1	80144	HP:0000452	Choanal stenosis
OMIM:219000	FRAS1	80144	HP:0002006	Facial cleft
OMIM:219000	GRIP1	23426	HP:0000430	Underdeveloped nasal alae
OMIM:219000	GRIP1	23426	HP:0001627	Abnormal heart morphology
OMIM:219000	GRIP1	23426	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	GRIP1	23426	HP:0000561	Absent eyelashes
OMIM:219000	GRIP1	23426	HP:0000369	Low-set ears
OMIM:219000	GRIP1	23426	HP:0002223	Absent eyebrow
OMIM:219000	GRIP1	23426	HP:0002475	Myelomeningocele
OMIM:219000	GRIP1	23426	HP:0000252	Microcephaly
OMIM:219000	GRIP1	23426	HP:0007957	Corneal opacity
OMIM:219000	GRIP1	23426	HP:0001602	Laryngeal stenosis
OMIM:219000	GRIP1	23426	HP:0000316	Hypertelorism
OMIM:219000	GRIP1	23426	HP:0000148	Vaginal atresia
OMIM:219000	GRIP1	23426	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	GRIP1	23426	HP:0000813	Bicornuate uterus
OMIM:219000	GRIP1	23426	HP:0000445	Wide nose
OMIM:219000	GRIP1	23426	HP:0007633	Bilateral microphthalmos
OMIM:219000	GRIP1	23426	HP:0001249	Intellectual disability
OMIM:219000	GRIP1	23426	HP:0000089	Renal hypoplasia
OMIM:219000	GRIP1	23426	HP:0000047	Hypospadias
OMIM:219000	GRIP1	23426	HP:0000007	Autosomal recessive inheritance
OMIM:219000	GRIP1	23426	HP:0000689	Dental malocclusion
OMIM:219000	GRIP1	23426	HP:0000618	Blindness
OMIM:219000	GRIP1	23426	HP:0001607	Subglottic stenosis
OMIM:219000	GRIP1	23426	HP:0000378	Cupped ear
OMIM:219000	GRIP1	23426	HP:0002089	Pulmonary hypoplasia
OMIM:219000	GRIP1	23426	HP:0000175	Cleft palate
OMIM:219000	GRIP1	23426	HP:0002084	Encephalocele
OMIM:219000	GRIP1	23426	HP:0000028	Cryptorchidism
OMIM:219000	GRIP1	23426	HP:0000678	Dental crowding
OMIM:219000	GRIP1	23426	HP:0000413	Atresia of the external auditory canal
OMIM:219000	GRIP1	23426	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	GRIP1	23426	HP:0001551	Abnormality of the umbilicus
OMIM:219000	GRIP1	23426	HP:0000528	Anophthalmia
OMIM:219000	GRIP1	23426	HP:0000777	Abnormality of the thymus
OMIM:219000	GRIP1	23426	HP:0002244	Abnormality of the small intestine
OMIM:219000	GRIP1	23426	HP:0008559	Hypoplastic superior helix
OMIM:219000	GRIP1	23426	HP:0006610	Wide intermamillary distance
OMIM:219000	GRIP1	23426	HP:0008665	Clitoral hypertrophy
OMIM:219000	GRIP1	23426	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	GRIP1	23426	HP:0000636	Upper eyelid coloboma
OMIM:219000	GRIP1	23426	HP:0005352	Severe T-cell immunodeficiency
OMIM:219000	GRIP1	23426	HP:0007993	Malformed lacrimal ducts
OMIM:219000	GRIP1	23426	HP:0003191	Cleft ala nasi
OMIM:219000	GRIP1	23426	HP:0000431	Wide nasal bridge
OMIM:219000	GRIP1	23426	HP:0005280	Depressed nasal bridge
OMIM:219000	GRIP1	23426	HP:0003183	Wide pubic symphysis
OMIM:219000	GRIP1	23426	HP:0000405	Conductive hearing impairment
OMIM:219000	GRIP1	23426	HP:0004112	Midline nasal groove
OMIM:219000	GRIP1	23426	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	GRIP1	23426	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	GRIP1	23426	HP:0007925	Lacrimal duct aplasia
OMIM:219000	GRIP1	23426	HP:0005950	Laryngeal web
OMIM:219000	GRIP1	23426	HP:0000183	Difficulty in tongue movements
OMIM:219000	GRIP1	23426	HP:0000238	Hydrocephalus
OMIM:219000	GRIP1	23426	HP:0002536	Abnormal cortical gyration
OMIM:219000	GRIP1	23426	HP:0000054	Micropenis
OMIM:219000	GRIP1	23426	HP:0000204	Cleft upper lip
OMIM:219000	GRIP1	23426	HP:0000377	Abnormality of the pinna
OMIM:219000	GRIP1	23426	HP:0001362	Calvarial skull defect
OMIM:219000	GRIP1	23426	HP:0004378	Abnormality of the anus
OMIM:219000	GRIP1	23426	HP:0001126	Cryptophthalmos
OMIM:219000	GRIP1	23426	HP:0005325	Extension of hair growth on temples to lateral eyebrow
OMIM:219000	GRIP1	23426	HP:0008750	Laryngeal atresia
OMIM:219000	GRIP1	23426	HP:0000452	Choanal stenosis
OMIM:219000	GRIP1	23426	HP:0002006	Facial cleft
OMIM:219000	FREM2	341640	HP:0000430	Underdeveloped nasal alae
OMIM:219000	FREM2	341640	HP:0001627	Abnormal heart morphology
OMIM:219000	FREM2	341640	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	FREM2	341640	HP:0000561	Absent eyelashes
OMIM:219000	FREM2	341640	HP:0000369	Low-set ears
OMIM:219000	FREM2	341640	HP:0002223	Absent eyebrow
OMIM:219000	FREM2	341640	HP:0002475	Myelomeningocele
OMIM:219000	FREM2	341640	HP:0000252	Microcephaly
OMIM:219000	FREM2	341640	HP:0007957	Corneal opacity
OMIM:219000	FREM2	341640	HP:0001602	Laryngeal stenosis
OMIM:219000	FREM2	341640	HP:0000316	Hypertelorism
OMIM:219000	FREM2	341640	HP:0000148	Vaginal atresia
OMIM:219000	FREM2	341640	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	FREM2	341640	HP:0000813	Bicornuate uterus
OMIM:219000	FREM2	341640	HP:0000445	Wide nose
OMIM:219000	FREM2	341640	HP:0007633	Bilateral microphthalmos
OMIM:219000	FREM2	341640	HP:0001249	Intellectual disability
OMIM:219000	FREM2	341640	HP:0000089	Renal hypoplasia
OMIM:219000	FREM2	341640	HP:0000047	Hypospadias
OMIM:219000	FREM2	341640	HP:0000007	Autosomal recessive inheritance
OMIM:219000	FREM2	341640	HP:0000689	Dental malocclusion
OMIM:219000	FREM2	341640	HP:0000618	Blindness
OMIM:219000	FREM2	341640	HP:0001607	Subglottic stenosis
OMIM:219000	FREM2	341640	HP:0000378	Cupped ear
OMIM:219000	FREM2	341640	HP:0002089	Pulmonary hypoplasia
OMIM:219000	FREM2	341640	HP:0000175	Cleft palate
OMIM:219000	FREM2	341640	HP:0002084	Encephalocele
OMIM:219000	FREM2	341640	HP:0000028	Cryptorchidism
OMIM:219000	FREM2	341640	HP:0000678	Dental crowding
OMIM:219000	FREM2	341640	HP:0000413	Atresia of the external auditory canal
OMIM:219000	FREM2	341640	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	FREM2	341640	HP:0001551	Abnormality of the umbilicus
OMIM:219000	FREM2	341640	HP:0000528	Anophthalmia
OMIM:219000	FREM2	341640	HP:0000777	Abnormality of the thymus
OMIM:219000	FREM2	341640	HP:0002244	Abnormality of the small intestine
OMIM:219000	FREM2	341640	HP:0008559	Hypoplastic superior helix
OMIM:219000	FREM2	341640	HP:0006610	Wide intermamillary distance
OMIM:219000	FREM2	341640	HP:0008665	Clitoral hypertrophy
OMIM:219000	FREM2	341640	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	FREM2	341640	HP:0000636	Upper eyelid coloboma
OMIM:219000	FREM2	341640	HP:0005352	Severe T-cell immunodeficiency
OMIM:219000	FREM2	341640	HP:0007993	Malformed lacrimal ducts
OMIM:219000	FREM2	341640	HP:0003191	Cleft ala nasi
OMIM:219000	FREM2	341640	HP:0000431	Wide nasal bridge
OMIM:219000	FREM2	341640	HP:0005280	Depressed nasal bridge
OMIM:219000	FREM2	341640	HP:0003183	Wide pubic symphysis
OMIM:219000	FREM2	341640	HP:0000405	Conductive hearing impairment
OMIM:219000	FREM2	341640	HP:0004112	Midline nasal groove
OMIM:219000	FREM2	341640	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	FREM2	341640	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	FREM2	341640	HP:0007925	Lacrimal duct aplasia
OMIM:219000	FREM2	341640	HP:0005950	Laryngeal web
OMIM:219000	FREM2	341640	HP:0000183	Difficulty in tongue movements
OMIM:219000	FREM2	341640	HP:0000238	Hydrocephalus
OMIM:219000	FREM2	341640	HP:0002536	Abnormal cortical gyration
OMIM:219000	FREM2	341640	HP:0000054	Micropenis
OMIM:219000	FREM2	341640	HP:0000204	Cleft upper lip
OMIM:219000	FREM2	341640	HP:0000377	Abnormality of the pinna
OMIM:219000	FREM2	341640	HP:0001362	Calvarial skull defect
OMIM:219000	FREM2	341640	HP:0004378	Abnormality of the anus
OMIM:219000	FREM2	341640	HP:0001126	Cryptophthalmos
OMIM:219000	FREM2	341640	HP:0005325	Extension of hair growth on temples to lateral eyebrow
OMIM:219000	FREM2	341640	HP:0008750	Laryngeal atresia
OMIM:219000	FREM2	341640	HP:0000452	Choanal stenosis
OMIM:219000	FREM2	341640	HP:0002006	Facial cleft
OMIM:312600	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:312600	RP2	6102	HP:0000662	Nyctalopia
OMIM:312600	RP2	6102	HP:0000545	Myopia
OMIM:312600	RP2	6102	HP:0000518	Cataract
OMIM:312600	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RP2	6102	HP:0200065	Chorioretinal degeneration
OMIM:312600	RP2	6102	HP:0001417	X-linked inheritance
OMIM:253260	BTD	686	HP:0002240	Hepatomegaly
OMIM:253260	BTD	686	HP:0002013	Vomiting
OMIM:253260	BTD	686	HP:0001992	Organic aciduria
OMIM:253260	BTD	686	HP:0001744	Splenomegaly
OMIM:253260	BTD	686	HP:0001250	Seizures
OMIM:253260	BTD	686	HP:0000988	Skin rash
OMIM:253260	BTD	686	HP:0001596	Alopecia
OMIM:253260	BTD	686	HP:0002104	Apnea
OMIM:253260	BTD	686	HP:0005979	Metabolic ketoacidosis
OMIM:253260	BTD	686	HP:0000509	Conjunctivitis
OMIM:253260	BTD	686	HP:0001254	Lethargy
OMIM:253260	BTD	686	HP:0008872	Feeding difficulties in infancy
OMIM:253260	BTD	686	HP:0000407	Sensorineural hearing impairment
OMIM:253260	BTD	686	HP:0001051	Seborrheic dermatitis
OMIM:253260	BTD	686	HP:0001581	Recurrent skin infections
OMIM:253260	BTD	686	HP:0000572	Visual loss
OMIM:253260	BTD	686	HP:0100275	Diffuse cerebellar atrophy
OMIM:253260	BTD	686	HP:0002506	Diffuse cerebral atrophy
OMIM:253260	BTD	686	HP:0001290	Generalized hypotonia
OMIM:253260	BTD	686	HP:0001251	Ataxia
OMIM:253260	BTD	686	HP:0001263	Global developmental delay
OMIM:253260	BTD	686	HP:0002014	Diarrhea
OMIM:253260	BTD	686	HP:0000648	Optic atrophy
OMIM:253260	BTD	686	HP:0001987	Hyperammonemia
OMIM:253260	BTD	686	HP:0000007	Autosomal recessive inheritance
OMIM:253260	BTD	686	HP:0002789	Tachypnea
OMIM:614465	TMEM138	51524	HP:0000556	Retinal dystrophy
OMIM:614465	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:614465	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:614465	TMEM138	51524	HP:0000657	Oculomotor apraxia
OMIM:614465	TMEM138	51524	HP:0000589	Coloboma
OMIM:309000	OCRL	4952	HP:0007109	Periventricular cysts
OMIM:309000	OCRL	4952	HP:0007663	Reduced visual acuity
OMIM:309000	OCRL	4952	HP:0002748	Rickets
OMIM:309000	OCRL	4952	HP:0000733	Stereotypy
OMIM:309000	OCRL	4952	HP:0000926	Platyspondyly
OMIM:309000	OCRL	4952	HP:0000718	Aggressive behavior
OMIM:309000	OCRL	4952	HP:0000093	Proteinuria
OMIM:309000	OCRL	4952	HP:0000028	Cryptorchidism
OMIM:309000	OCRL	4952	HP:0001508	Failure to thrive
OMIM:309000	OCRL	4952	HP:0001284	Areflexia
OMIM:309000	OCRL	4952	HP:0001419	X-linked recessive inheritance
OMIM:309000	OCRL	4952	HP:0003148	Elevated serum acid phosphatase
OMIM:309000	OCRL	4952	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
OMIM:309000	OCRL	4952	HP:0006297	Hypoplasia of dental enamel
OMIM:309000	OCRL	4952	HP:0007948	Dense posterior cortical cataract
OMIM:309000	OCRL	4952	HP:0025131	Finger swelling
OMIM:309000	OCRL	4952	HP:0000505	Visual impairment
OMIM:309000	OCRL	4952	HP:0001994	Renal Fanconi syndrome
OMIM:309000	OCRL	4952	HP:0001319	Neonatal hypotonia
OMIM:309000	OCRL	4952	HP:0003109	Hyperphosphaturia
OMIM:309000	OCRL	4952	HP:0003355	Aminoaciduria
OMIM:309000	OCRL	4952	HP:0000083	Renal insufficiency
OMIM:309000	OCRL	4952	HP:0002827	Hip dislocation
OMIM:309000	OCRL	4952	HP:0002808	Kyphosis
OMIM:309000	OCRL	4952	HP:0001250	Seizures
OMIM:309000	OCRL	4952	HP:0001249	Intellectual disability
OMIM:309000	OCRL	4952	HP:0002019	Constipation
OMIM:309000	OCRL	4952	HP:0002749	Osteomalacia
OMIM:309000	OCRL	4952	HP:0000501	Glaucoma
OMIM:309000	OCRL	4952	HP:0002049	Proximal renal tubular acidosis
OMIM:309000	OCRL	4952	HP:0002119	Ventriculomegaly
OMIM:309000	OCRL	4952	HP:0100490	Camptodactyly of finger
OMIM:309000	OCRL	4952	HP:0000519	Congenital cataract
OMIM:309000	OCRL	4952	HP:0002650	Scoliosis
OMIM:309000	OCRL	4952	HP:0001482	Subcutaneous nodule
OMIM:309000	OCRL	4952	HP:0003124	Hypercholesterolemia
OMIM:309000	OCRL	4952	HP:0000568	Microphthalmia
OMIM:309000	OCRL	4952	HP:0002756	Pathologic fracture
OMIM:309000	OCRL	4952	HP:0003646	Bicarbonaturia
OMIM:309000	OCRL	4952	HP:0001382	Joint hypermobility
OMIM:309000	OCRL	4952	HP:0005984	Elevated maternal serum alpha-fetoprotein
OMIM:309000	OCRL	4952	HP:0004322	Short stature
OMIM:309000	OCRL	4952	HP:0001225	Wrist swelling
OMIM:309000	OCRL	4952	HP:0002857	Genu valgum
ORPHA:85287	PHF8	23133	HP:0001176	Large hands
ORPHA:85287	PHF8	23133	HP:0000455	Broad nasal tip
ORPHA:85287	PHF8	23133	HP:0001256	Intellectual disability, mild
ORPHA:85287	PHF8	23133	HP:0000028	Cryptorchidism
ORPHA:85287	PHF8	23133	HP:0000204	Cleft upper lip
ORPHA:85287	PHF8	23133	HP:0008734	Decreased testicular size
ORPHA:85287	PHF8	23133	HP:0000276	Long face
ORPHA:85166	COL2A1	1280	HP:0001773	Short foot
ORPHA:85166	COL2A1	1280	HP:0000882	Hypoplastic scapulae
ORPHA:85166	COL2A1	1280	HP:0001561	Polyhydramnios
ORPHA:85166	COL2A1	1280	HP:0003270	Abdominal distention
ORPHA:85166	COL2A1	1280	HP:0000272	Malar flattening
ORPHA:85166	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:85166	COL2A1	1280	HP:0003090	Hypoplasia of the capital femoral epiphysis
ORPHA:85166	COL2A1	1280	HP:0008839	Hypoplastic pelvis
ORPHA:85166	COL2A1	1280	HP:0002089	Pulmonary hypoplasia
ORPHA:85166	COL2A1	1280	HP:0005280	Depressed nasal bridge
ORPHA:85166	COL2A1	1280	HP:0009882	Short distal phalanx of finger
ORPHA:85166	COL2A1	1280	HP:0003021	Metaphyseal cupping
ORPHA:85166	COL2A1	1280	HP:0004279	Short palm
ORPHA:85166	COL2A1	1280	HP:0000774	Narrow chest
ORPHA:85166	COL2A1	1280	HP:0008873	Disproportionate short-limb short stature
ORPHA:85166	COL2A1	1280	HP:0001191	Abnormality of the carpal bones
ORPHA:85166	COL2A1	1280	HP:0011220	Prominent forehead
ORPHA:85166	COL2A1	1280	HP:0002970	Genu varum
ORPHA:85166	COL2A1	1280	HP:0000369	Low-set ears
ORPHA:85166	COL2A1	1280	HP:0001789	Hydrops fetalis
ORPHA:85166	COL2A1	1280	HP:0002983	Micromelia
ORPHA:85166	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHA:85166	COL2A1	1280	HP:0010306	Short thorax
ORPHA:88635	CASQ1	844	HP:0003198	Myopathy
ORPHA:88635	CASQ1	844	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616795	CACNA1G	8913	HP:0000006	Autosomal dominant inheritance
OMIM:616795	CACNA1G	8913	HP:0000666	Horizontal nystagmus
OMIM:616795	CACNA1G	8913	HP:0000716	Depressivity
OMIM:616795	CACNA1G	8913	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
OMIM:616795	CACNA1G	8913	HP:0003677	Slow progression
OMIM:616795	CACNA1G	8913	HP:0002317	Unsteady gait
OMIM:616795	CACNA1G	8913	HP:0002497	Spastic ataxia
OMIM:616795	CACNA1G	8913	HP:0100543	Cognitive impairment
OMIM:616795	CACNA1G	8913	HP:0001272	Cerebellar atrophy
OMIM:616795	CACNA1G	8913	HP:0000651	Diplopia
ORPHA:51083	KCNQ1	3784	HP:0005110	Atrial fibrillation
ORPHA:51083	KCNQ1	3784	HP:0001962	Palpitations
ORPHA:51083	KCNQ1	3784	HP:0012232	Shortened QT interval
ORPHA:51083	KCNQ1	3784	HP:0001662	Bradycardia
ORPHA:51083	KCNH2	3757	HP:0005110	Atrial fibrillation
ORPHA:51083	KCNH2	3757	HP:0001962	Palpitations
ORPHA:51083	KCNH2	3757	HP:0012232	Shortened QT interval
ORPHA:51083	KCNH2	3757	HP:0001662	Bradycardia
ORPHA:51083	CACNA2D1	781	HP:0005110	Atrial fibrillation
ORPHA:51083	CACNA2D1	781	HP:0001962	Palpitations
ORPHA:51083	CACNA2D1	781	HP:0012232	Shortened QT interval
ORPHA:51083	CACNA2D1	781	HP:0001662	Bradycardia
ORPHA:51083	KCNJ2	3759	HP:0005110	Atrial fibrillation
ORPHA:51083	KCNJ2	3759	HP:0001962	Palpitations
ORPHA:51083	KCNJ2	3759	HP:0012232	Shortened QT interval
ORPHA:51083	KCNJ2	3759	HP:0001662	Bradycardia
OMIM:601559	LIFR	3977	HP:0012745	Short palpebral fissure
OMIM:601559	LIFR	3977	HP:0000954	Single transverse palmar crease
OMIM:601559	LIFR	3977	HP:0002756	Pathologic fracture
OMIM:601559	LIFR	3977	HP:0000321	Square face
OMIM:601559	LIFR	3977	HP:0001611	Nasal speech
OMIM:601559	LIFR	3977	HP:0000883	Thin ribs
OMIM:601559	LIFR	3977	HP:0000935	Thickened cortex of long bones
OMIM:601559	LIFR	3977	HP:0002104	Apnea
OMIM:601559	LIFR	3977	HP:0010298	Smooth tongue
OMIM:601559	LIFR	3977	HP:0000470	Short neck
OMIM:601559	LIFR	3977	HP:0011800	Midface retrusion
OMIM:601559	LIFR	3977	HP:0100865	Broad ischia
OMIM:601559	LIFR	3977	HP:0000205	Pursed lips
OMIM:601559	LIFR	3977	HP:0004322	Short stature
OMIM:601559	LIFR	3977	HP:0000682	Abnormality of dental enamel
OMIM:601559	LIFR	3977	HP:0003037	Enlarged joints
OMIM:601559	LIFR	3977	HP:0001290	Generalized hypotonia
OMIM:601559	LIFR	3977	HP:0000939	Osteoporosis
OMIM:601559	LIFR	3977	HP:0007759	Opacification of the corneal stroma
OMIM:601559	LIFR	3977	HP:0002007	Frontal bossing
OMIM:601559	LIFR	3977	HP:0006380	Knee flexion contracture
OMIM:601559	LIFR	3977	HP:0002980	Femoral bowing
OMIM:601559	LIFR	3977	HP:0008824	Hypoplastic iliac body
OMIM:601559	LIFR	3977	HP:0002015	Dysphagia
OMIM:601559	LIFR	3977	HP:0002093	Respiratory insufficiency
OMIM:601559	LIFR	3977	HP:0003015	Flared metaphysis
OMIM:601559	LIFR	3977	HP:0005830	Flexion contracture of toe
OMIM:601559	LIFR	3977	HP:0002987	Elbow flexion contracture
OMIM:601559	LIFR	3977	HP:0001883	Talipes
OMIM:601559	LIFR	3977	HP:0000347	Micrognathia
OMIM:601559	LIFR	3977	HP:0004684	Talipes valgus
OMIM:601559	LIFR	3977	HP:0006844	Absent patellar reflexes
OMIM:601559	LIFR	3977	HP:0005736	Short tibia
OMIM:601559	LIFR	3977	HP:0000007	Autosomal recessive inheritance
OMIM:601559	LIFR	3977	HP:0004964	Pulmonary arterial medial hypertrophy
OMIM:601559	LIFR	3977	HP:0003196	Short nose
OMIM:601559	LIFR	3977	HP:0009465	Ulnar deviation of finger
OMIM:601559	LIFR	3977	HP:0000963	Thin skin
OMIM:601559	LIFR	3977	HP:0002459	Dysautonomia
OMIM:601559	LIFR	3977	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
OMIM:601559	LIFR	3977	HP:0001181	Adducted thumb
OMIM:601559	LIFR	3977	HP:0001609	Hoarse voice
OMIM:601559	LIFR	3977	HP:0002092	Pulmonary arterial hypertension
OMIM:601559	LIFR	3977	HP:0002982	Tibial bowing
OMIM:601559	LIFR	3977	HP:0000272	Malar flattening
OMIM:601559	LIFR	3977	HP:0007610	Blotching pigmentation of the skin
OMIM:601559	LIFR	3977	HP:0012810	Wide nasal base
OMIM:601559	LIFR	3977	HP:0007328	Impaired pain sensation
OMIM:601559	LIFR	3977	HP:0011968	Feeding difficulties
OMIM:601559	LIFR	3977	HP:0002089	Pulmonary hypoplasia
OMIM:601559	LIFR	3977	HP:0002486	Myotonia
OMIM:601559	LIFR	3977	HP:0005089	Abnormal metaphyseal trabeculation
OMIM:601559	LIFR	3977	HP:0002650	Scoliosis
OMIM:601559	LIFR	3977	HP:0000369	Low-set ears
OMIM:601559	LIFR	3977	HP:0004980	Metaphyseal rarefaction
OMIM:601559	LIFR	3977	HP:0009803	Short phalanx of finger
OMIM:601559	LIFR	3977	HP:0001954	Episodic fever
OMIM:260600	AIMP1	9255	HP:0002751	Kyphoscoliosis
OMIM:260600	AIMP1	9255	HP:0002415	Leukodystrophy
OMIM:260600	AIMP1	9255	HP:0002804	Arthrogryposis multiplex congenita
OMIM:260600	AIMP1	9255	HP:0001263	Global developmental delay
OMIM:260600	AIMP1	9255	HP:0007371	Corpus callosum atrophy
OMIM:260600	AIMP1	9255	HP:0000280	Coarse facial features
OMIM:260600	AIMP1	9255	HP:0000252	Microcephaly
OMIM:260600	AIMP1	9255	HP:0001508	Failure to thrive
OMIM:260600	AIMP1	9255	HP:0002313	Spastic paraparesis
OMIM:260600	AIMP1	9255	HP:0002353	EEG abnormality
OMIM:260600	AIMP1	9255	HP:0000505	Visual impairment
OMIM:260600	AIMP1	9255	HP:0002587	Projectile vomiting
OMIM:260600	AIMP1	9255	HP:0005876	Progressive flexion contractures
OMIM:260600	AIMP1	9255	HP:0007256	Abnormal pyramidal signs
OMIM:260600	AIMP1	9255	HP:0001250	Seizures
OMIM:260600	AIMP1	9255	HP:0001622	Premature birth
OMIM:260600	AIMP1	9255	HP:0003676	Progressive
OMIM:260600	AIMP1	9255	HP:0000007	Autosomal recessive inheritance
OMIM:260600	AIMP1	9255	HP:0006918	Diffuse cerebral sclerosis
OMIM:260600	AIMP1	9255	HP:0002283	Global brain atrophy
OMIM:260600	AIMP1	9255	HP:0003269	Sudanophilic leukodystrophy
OMIM:260600	AIMP1	9255	HP:0001522	Death in infancy
OMIM:260600	AIMP1	9255	HP:0008936	Muscular hypotonia of the trunk
ORPHA:2680	ADCY6	112	HP:0001252	Muscular hypotonia
ORPHA:2680	ADCY6	112	HP:0001376	Limitation of joint mobility
ORPHA:2680	ADCY6	112	HP:0001315	Reduced tendon reflexes
ORPHA:2680	ADCY6	112	HP:0003457	EMG abnormality
ORPHA:2680	ADCY6	112	HP:0002098	Respiratory distress
ORPHA:2680	LGI4	163175	HP:0001252	Muscular hypotonia
ORPHA:2680	LGI4	163175	HP:0001376	Limitation of joint mobility
ORPHA:2680	LGI4	163175	HP:0001315	Reduced tendon reflexes
ORPHA:2680	LGI4	163175	HP:0003457	EMG abnormality
ORPHA:2680	LGI4	163175	HP:0002098	Respiratory distress
ORPHA:2680	CNTNAP1	8506	HP:0001252	Muscular hypotonia
ORPHA:2680	CNTNAP1	8506	HP:0001376	Limitation of joint mobility
ORPHA:2680	CNTNAP1	8506	HP:0001315	Reduced tendon reflexes
ORPHA:2680	CNTNAP1	8506	HP:0003457	EMG abnormality
ORPHA:2680	CNTNAP1	8506	HP:0002098	Respiratory distress
ORPHA:189427	ARMC5	79798	HP:0001508	Failure to thrive
ORPHA:189427	ARMC5	79798	HP:0000819	Diabetes mellitus
ORPHA:189427	ARMC5	79798	HP:0002230	Generalized hirsutism
ORPHA:189427	ARMC5	79798	HP:0400008	Menometrorrhagia
ORPHA:189427	ARMC5	79798	HP:0000939	Osteoporosis
ORPHA:189427	ARMC5	79798	HP:0008231	Macronodular adrenal hyperplasia
ORPHA:189427	ARMC5	79798	HP:0000978	Bruising susceptibility
ORPHA:189427	ARMC5	79798	HP:0001956	Truncal obesity
ORPHA:189427	ARMC5	79798	HP:0000787	Nephrolithiasis
ORPHA:189427	ARMC5	79798	HP:0012378	Fatigue
ORPHA:189427	ARMC5	79798	HP:0000311	Round face
ORPHA:189427	ARMC5	79798	HP:0001324	Muscle weakness
ORPHA:189427	ARMC5	79798	HP:0000822	Hypertension
ORPHA:189427	ARMC5	79798	HP:0000716	Depressivity
ORPHA:189427	ARMC5	79798	HP:0000963	Thin skin
ORPHA:189427	GNAS	2778	HP:0001508	Failure to thrive
ORPHA:189427	GNAS	2778	HP:0000819	Diabetes mellitus
ORPHA:189427	GNAS	2778	HP:0002230	Generalized hirsutism
ORPHA:189427	GNAS	2778	HP:0400008	Menometrorrhagia
ORPHA:189427	GNAS	2778	HP:0000939	Osteoporosis
ORPHA:189427	GNAS	2778	HP:0008231	Macronodular adrenal hyperplasia
ORPHA:189427	GNAS	2778	HP:0000978	Bruising susceptibility
ORPHA:189427	GNAS	2778	HP:0001956	Truncal obesity
ORPHA:189427	GNAS	2778	HP:0000787	Nephrolithiasis
ORPHA:189427	GNAS	2778	HP:0012378	Fatigue
ORPHA:189427	GNAS	2778	HP:0000311	Round face
ORPHA:189427	GNAS	2778	HP:0001324	Muscle weakness
ORPHA:189427	GNAS	2778	HP:0000822	Hypertension
ORPHA:189427	GNAS	2778	HP:0000716	Depressivity
ORPHA:189427	GNAS	2778	HP:0000963	Thin skin
OMIM:616249	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:616249	CALM2	805	HP:0001657	Prolonged QT interval
ORPHA:83469	WT1	7490	HP:0002017	Nausea and vomiting
ORPHA:83469	WT1	7490	HP:0002027	Abdominal pain
ORPHA:83469	WT1	7490	HP:0002585	Abnormality of the peritoneum
ORPHA:83469	WT1	7490	HP:0003270	Abdominal distention
ORPHA:83469	WT1	7490	HP:0100721	Mediastinal lymphadenopathy
ORPHA:83469	WT1	7490	HP:0002240	Hepatomegaly
ORPHA:83469	WT1	7490	HP:0002595	Ileus
ORPHA:83469	WT1	7490	HP:0100242	Sarcoma
ORPHA:83469	EWSR1	2130	HP:0002017	Nausea and vomiting
ORPHA:83469	EWSR1	2130	HP:0002027	Abdominal pain
ORPHA:83469	EWSR1	2130	HP:0002585	Abnormality of the peritoneum
ORPHA:83469	EWSR1	2130	HP:0003270	Abdominal distention
ORPHA:83469	EWSR1	2130	HP:0100721	Mediastinal lymphadenopathy
ORPHA:83469	EWSR1	2130	HP:0002240	Hepatomegaly
ORPHA:83469	EWSR1	2130	HP:0002595	Ileus
ORPHA:83469	EWSR1	2130	HP:0100242	Sarcoma
OMIM:222600	SLC26A2	1836	HP:0001076	Glabellar hemangioma
OMIM:222600	SLC26A2	1836	HP:0002176	Spinal cord compression
OMIM:222600	SLC26A2	1836	HP:0003026	Short long bone
OMIM:222600	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:222600	SLC26A2	1836	HP:0008608	Hypertrophic auricular cartilage
OMIM:222600	SLC26A2	1836	HP:0000175	Cleft palate
OMIM:222600	SLC26A2	1836	HP:0003273	Hip contracture
OMIM:222600	SLC26A2	1836	HP:0009465	Ulnar deviation of finger
OMIM:222600	SLC26A2	1836	HP:0000365	Hearing impairment
OMIM:222600	SLC26A2	1836	HP:0002947	Cervical kyphosis
OMIM:222600	SLC26A2	1836	HP:0008873	Disproportionate short-limb short stature
OMIM:222600	SLC26A2	1836	HP:0009381	Short finger
OMIM:222600	SLC26A2	1836	HP:0010723	Cystic lesions of the pinnae
OMIM:222600	SLC26A2	1836	HP:0006646	Costal cartilage calcification
OMIM:222600	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:222600	SLC26A2	1836	HP:0001609	Hoarse voice
OMIM:222600	SLC26A2	1836	HP:0003071	Flattened epiphysis
OMIM:222600	SLC26A2	1836	HP:0008921	Neonatal short-limb short stature
OMIM:222600	SLC26A2	1836	HP:0010582	Irregular epiphyses
OMIM:222600	SLC26A2	1836	HP:0008434	Hypoplastic cervical vertebrae
OMIM:222600	SLC26A2	1836	HP:0002751	Kyphoscoliosis
OMIM:222600	SLC26A2	1836	HP:0004894	Laryngotracheal stenosis
OMIM:222600	SLC26A2	1836	HP:0001234	Hitchhiker thumb
OMIM:277170	C5ORF42	65250	HP:0000286	Epicanthus
OMIM:277170	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:277170	C5ORF42	65250	HP:0001290	Generalized hypotonia
OMIM:277170	C5ORF42	65250	HP:0000191	Accessory oral frenulum
OMIM:277170	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:277170	C5ORF42	65250	HP:0001177	Preaxial hand polydactyly
OMIM:277170	C5ORF42	65250	HP:0000347	Micrognathia
OMIM:277170	C5ORF42	65250	HP:0000104	Renal agenesis
OMIM:277170	C5ORF42	65250	HP:0009466	Radial deviation of finger
OMIM:277170	C5ORF42	65250	HP:0000110	Renal dysplasia
OMIM:277170	C5ORF42	65250	HP:0000405	Conductive hearing impairment
OMIM:277170	C5ORF42	65250	HP:0000639	Nystagmus
OMIM:277170	C5ORF42	65250	HP:0001841	Preaxial foot polydactyly
OMIM:277170	C5ORF42	65250	HP:0000218	High palate
OMIM:277170	C5ORF42	65250	HP:0001156	Brachydactyly
OMIM:277170	C5ORF42	65250	HP:0000565	Esotropia
OMIM:277170	C5ORF42	65250	HP:0001508	Failure to thrive
OMIM:277170	C5ORF42	65250	HP:0006159	Mesoaxial hand polydactyly
OMIM:277170	C5ORF42	65250	HP:0000175	Cleft palate
OMIM:277170	C5ORF42	65250	HP:0000316	Hypertelorism
OMIM:277170	C5ORF42	65250	HP:0004322	Short stature
OMIM:277170	C5ORF42	65250	HP:0001770	Toe syndactyly
OMIM:277170	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:277170	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	C5ORF42	65250	HP:0000199	Tongue nodules
OMIM:277170	C5ORF42	65250	HP:0000358	Posteriorly rotated ears
OMIM:277170	C5ORF42	65250	HP:0000455	Broad nasal tip
OMIM:277170	C5ORF42	65250	HP:0100259	Postaxial polydactyly
OMIM:277170	C5ORF42	65250	HP:0000369	Low-set ears
OMIM:277170	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:277170	C5ORF42	65250	HP:0000204	Cleft upper lip
OMIM:277170	C5ORF42	65250	HP:0006145	Central Y-shaped metacarpal
OMIM:277170	C5ORF42	65250	HP:0002444	Hypothalamic hamartoma
OMIM:277170	C5ORF42	65250	HP:0030084	Clinodactyly
OMIM:615954	ARMC5	79798	HP:0000939	Osteoporosis
OMIM:615954	ARMC5	79798	HP:0000716	Depressivity
OMIM:615954	ARMC5	79798	HP:0000822	Hypertension
OMIM:615954	ARMC5	79798	HP:0000006	Autosomal dominant inheritance
OMIM:615954	ARMC5	79798	HP:0008231	Macronodular adrenal hyperplasia
OMIM:615954	ARMC5	79798	HP:0000311	Round face
OMIM:615954	ARMC5	79798	HP:0003074	Hyperglycemia
OMIM:615954	ARMC5	79798	HP:0001428	Somatic mutation
OMIM:600740	AP2S1	1175	HP:0000006	Autosomal dominant inheritance
OMIM:600740	AP2S1	1175	HP:0008200	Primary hyperparathyroidism
OMIM:600740	AP2S1	1175	HP:0000934	Chondrocalcinosis
OMIM:600740	AP2S1	1175	HP:0001012	Multiple lipomas
OMIM:600740	AP2S1	1175	HP:0003072	Hypercalcemia
OMIM:600740	AP2S1	1175	HP:0002653	Bone pain
OMIM:600740	AP2S1	1175	HP:0001733	Pancreatitis
OMIM:600740	AP2S1	1175	HP:0002918	Hypermagnesemia
OMIM:600740	AP2S1	1175	HP:0002148	Hypophosphatemia
OMIM:600740	AP2S1	1175	HP:0002749	Osteomalacia
OMIM:600740	AP2S1	1175	HP:0003127	Hypocalciuria
OMIM:600740	AP2S1	1175	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption
OMIM:192605	GNAI2	2771	HP:0001645	Sudden cardiac death
OMIM:192605	GNAI2	2771	HP:0004751	Paroxysmal ventricular tachycardia
OMIM:192605	GNAI2	2771	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192605	GNAI2	2771	HP:0000006	Autosomal dominant inheritance
ORPHA:35099	FGFR3	2261	HP:0000365	Hearing impairment
ORPHA:35099	FGFR3	2261	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:35099	FGFR3	2261	HP:0000520	Proptosis
ORPHA:35099	FGFR3	2261	HP:0000248	Brachycephaly
ORPHA:35099	FGFR3	2261	HP:0002516	Increased intracranial pressure
ORPHA:35099	FGFR3	2261	HP:0000337	Broad forehead
ORPHA:35099	ZIC1	7545	HP:0000365	Hearing impairment
ORPHA:35099	ZIC1	7545	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:35099	ZIC1	7545	HP:0000520	Proptosis
ORPHA:35099	ZIC1	7545	HP:0000248	Brachycephaly
ORPHA:35099	ZIC1	7545	HP:0002516	Increased intracranial pressure
ORPHA:35099	ZIC1	7545	HP:0000337	Broad forehead
ORPHA:35099	TCF12	6938	HP:0000365	Hearing impairment
ORPHA:35099	TCF12	6938	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:35099	TCF12	6938	HP:0000520	Proptosis
ORPHA:35099	TCF12	6938	HP:0000248	Brachycephaly
ORPHA:35099	TCF12	6938	HP:0002516	Increased intracranial pressure
ORPHA:35099	TCF12	6938	HP:0000337	Broad forehead
ORPHA:35099	TWIST1	7291	HP:0000365	Hearing impairment
ORPHA:35099	TWIST1	7291	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:35099	TWIST1	7291	HP:0000520	Proptosis
ORPHA:35099	TWIST1	7291	HP:0000248	Brachycephaly
ORPHA:35099	TWIST1	7291	HP:0002516	Increased intracranial pressure
ORPHA:35099	TWIST1	7291	HP:0000337	Broad forehead
OMIM:616370	ISCA2	122961	HP:0000648	Optic atrophy
OMIM:616370	ISCA2	122961	HP:0001344	Absent speech
OMIM:616370	ISCA2	122961	HP:0000007	Autosomal recessive inheritance
OMIM:616370	ISCA2	122961	HP:0002415	Leukodystrophy
OMIM:616370	ISCA2	122961	HP:0001257	Spasticity
OMIM:616370	ISCA2	122961	HP:0002518	Abnormality of the periventricular white matter
OMIM:616411	COL6A3	1293	HP:0002356	Writer's cramp
OMIM:616411	COL6A3	1293	HP:0000007	Autosomal recessive inheritance
OMIM:616411	COL6A3	1293	HP:0012049	Laryngeal dystonia
OMIM:616411	COL6A3	1293	HP:0002174	Postural tremor
OMIM:616411	COL6A3	1293	HP:0012048	Oromandibular dystonia
ORPHA:792	RS1	6247	HP:0000496	Abnormality of eye movement
ORPHA:792	RS1	6247	HP:0000501	Glaucoma
ORPHA:792	RS1	6247	HP:0030502	Retinoschisis
ORPHA:792	RS1	6247	HP:0000504	Abnormality of vision
ORPHA:792	RS1	6247	HP:0000512	Abnormal electroretinogram
ORPHA:792	RS1	6247	HP:0000518	Cataract
OMIM:220290	GJB2	2706	HP:0010984	Digenic inheritance
OMIM:220290	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJB3	2707	HP:0010984	Digenic inheritance
OMIM:220290	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJB6	10804	HP:0010984	Digenic inheritance
OMIM:220290	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:261540	B3GLCT	145173	HP:0001080	Biliary tract abnormality
OMIM:261540	B3GLCT	145173	HP:0000252	Microcephaly
OMIM:261540	B3GLCT	145173	HP:0000059	Hypoplastic labia majora
OMIM:261540	B3GLCT	145173	HP:0001159	Syndactyly
OMIM:261540	B3GLCT	145173	HP:0001540	Diastasis recti
OMIM:261540	B3GLCT	145173	HP:0001761	Pes cavus
OMIM:261540	B3GLCT	145173	HP:0000545	Myopia
OMIM:261540	B3GLCT	145173	HP:0000256	Macrocephaly
OMIM:261540	B3GLCT	145173	HP:0000639	Nystagmus
OMIM:261540	B3GLCT	145173	HP:0000954	Single transverse palmar crease
OMIM:261540	B3GLCT	145173	HP:0002263	Exaggerated cupid's bow
OMIM:261540	B3GLCT	145173	HP:0000028	Cryptorchidism
OMIM:261540	B3GLCT	145173	HP:0004467	Preauricular pit
OMIM:261540	B3GLCT	145173	HP:0005608	Bilobate gallbladder
OMIM:261540	B3GLCT	145173	HP:0001642	Pulmonic stenosis
OMIM:261540	B3GLCT	145173	HP:0004209	Clinodactyly of the 5th finger
OMIM:261540	B3GLCT	145173	HP:0000204	Cleft upper lip
OMIM:261540	B3GLCT	145173	HP:0000007	Autosomal recessive inheritance
OMIM:261540	B3GLCT	145173	HP:0000767	Pectus excavatum
OMIM:261540	B3GLCT	145173	HP:0003278	Square pelvis bone
OMIM:261540	B3GLCT	145173	HP:0000060	Clitoral hypoplasia
OMIM:261540	B3GLCT	145173	HP:0000200	Short lingual frenulum
OMIM:261540	B3GLCT	145173	HP:0002996	Limited elbow movement
OMIM:261540	B3GLCT	145173	HP:0000347	Micrognathia
OMIM:261540	B3GLCT	145173	HP:0000582	Upslanted palpebral fissure
OMIM:261540	B3GLCT	145173	HP:0002937	Hemivertebrae
OMIM:261540	B3GLCT	145173	HP:0004325	Decreased body weight
OMIM:261540	B3GLCT	145173	HP:0000411	Protruding ear
OMIM:261540	B3GLCT	145173	HP:0000047	Hypospadias
OMIM:261540	B3GLCT	145173	HP:0001561	Polyhydramnios
OMIM:261540	B3GLCT	145173	HP:0009623	Proximal placement of thumb
OMIM:261540	B3GLCT	145173	HP:0000508	Ptosis
OMIM:261540	B3GLCT	145173	HP:0001274	Agenesis of corpus callosum
OMIM:261540	B3GLCT	145173	HP:0002650	Scoliosis
OMIM:261540	B3GLCT	145173	HP:0008897	Postnatal growth retardation
OMIM:261540	B3GLCT	145173	HP:0002219	Facial hypertrichosis
OMIM:261540	B3GLCT	145173	HP:0000260	Wide anterior fontanel
OMIM:261540	B3GLCT	145173	HP:0011065	Conical incisor
OMIM:261540	B3GLCT	145173	HP:0001250	Seizures
OMIM:261540	B3GLCT	145173	HP:0002059	Cerebral atrophy
OMIM:261540	B3GLCT	145173	HP:0002119	Ventriculomegaly
OMIM:261540	B3GLCT	145173	HP:0001388	Joint laxity
OMIM:261540	B3GLCT	145173	HP:0000343	Long philtrum
OMIM:261540	B3GLCT	145173	HP:0000465	Webbed neck
OMIM:261540	B3GLCT	145173	HP:0001629	Ventricular septal defect
OMIM:261540	B3GLCT	145173	HP:0000311	Round face
OMIM:261540	B3GLCT	145173	HP:0011220	Prominent forehead
OMIM:261540	B3GLCT	145173	HP:0010743	Short metatarsal
OMIM:261540	B3GLCT	145173	HP:0000518	Cataract
OMIM:261540	B3GLCT	145173	HP:0003561	Birth length less than 3rd percentile
OMIM:261540	B3GLCT	145173	HP:0001511	Intrauterine growth retardation
OMIM:261540	B3GLCT	145173	HP:0000480	Retinal coloboma
OMIM:261540	B3GLCT	145173	HP:0001773	Short foot
OMIM:261540	B3GLCT	145173	HP:0008569	Microtia, second degree
OMIM:261540	B3GLCT	145173	HP:0000073	Ureteral duplication
OMIM:261540	B3GLCT	145173	HP:0000402	Stenosis of the external auditory canal
OMIM:261540	B3GLCT	145173	HP:0001631	Atrial septal defect
OMIM:261540	B3GLCT	145173	HP:0000013	Hypoplasia of the uterus
OMIM:261540	B3GLCT	145173	HP:0004279	Short palm
OMIM:261540	B3GLCT	145173	HP:0000690	Agenesis of maxillary lateral incisor
OMIM:261540	B3GLCT	145173	HP:0006610	Wide intermamillary distance
OMIM:261540	B3GLCT	145173	HP:0000219	Thin upper lip vermilion
OMIM:261540	B3GLCT	145173	HP:0001537	Umbilical hernia
OMIM:261540	B3GLCT	145173	HP:0000126	Hydronephrosis
OMIM:261540	B3GLCT	145173	HP:0000475	Broad neck
OMIM:261540	B3GLCT	145173	HP:0010049	Short metacarpal
OMIM:261540	B3GLCT	145173	HP:0000316	Hypertelorism
OMIM:261540	B3GLCT	145173	HP:0000659	Peters anomaly
OMIM:261540	B3GLCT	145173	HP:0008905	Rhizomelia
OMIM:261540	B3GLCT	145173	HP:0002007	Frontal bossing
OMIM:261540	B3GLCT	145173	HP:0008726	Hypoplasia of the vagina
OMIM:261540	B3GLCT	145173	HP:0000175	Cleft palate
OMIM:261540	B3GLCT	145173	HP:0001363	Craniosynostosis
OMIM:261540	B3GLCT	145173	HP:0000501	Glaucoma
OMIM:261540	B3GLCT	145173	HP:0000612	Iris coloboma
OMIM:261540	B3GLCT	145173	HP:0008872	Feeding difficulties in infancy
OMIM:261540	B3GLCT	145173	HP:0000238	Hydrocephalus
OMIM:601680	TNNI2	7136	HP:0001838	Rocker bottom foot
OMIM:601680	TNNI2	7136	HP:0002650	Scoliosis
OMIM:601680	TNNI2	7136	HP:0004322	Short stature
OMIM:601680	TNNI2	7136	HP:0000218	High palate
OMIM:601680	TNNI2	7136	HP:0000325	Triangular face
OMIM:601680	TNNI2	7136	HP:0005684	Distal arthrogryposis
OMIM:601680	TNNI2	7136	HP:0100490	Camptodactyly of finger
OMIM:601680	TNNI2	7136	HP:0000343	Long philtrum
OMIM:601680	TNNI2	7136	HP:0000465	Webbed neck
OMIM:601680	TNNI2	7136	HP:0001840	Metatarsus adductus
OMIM:601680	TNNI2	7136	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TNNI2	7136	HP:0000160	Narrow mouth
OMIM:601680	TNNI2	7136	HP:0000598	Abnormality of the ear
OMIM:601680	TNNI2	7136	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TNNI2	7136	HP:0001848	Calcaneovalgus deformity
OMIM:601680	TNNI2	7136	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TNNI2	7136	HP:0006109	Absent phalangeal crease
OMIM:601680	TNNI2	7136	HP:0005272	Prominent nasolabial fold
OMIM:601680	TNNI2	7136	HP:0000303	Mandibular prognathia
OMIM:601680	TNNI2	7136	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TNNI2	7136	HP:0000431	Wide nasal bridge
OMIM:601680	TNNI2	7136	HP:0001762	Talipes equinovarus
OMIM:601680	TNNI2	7136	HP:0000347	Micrognathia
OMIM:601680	TNNI2	7136	HP:0003049	Ulnar deviation of the wrist
OMIM:601680	TPM2	7169	HP:0001838	Rocker bottom foot
OMIM:601680	TPM2	7169	HP:0002650	Scoliosis
OMIM:601680	TPM2	7169	HP:0004322	Short stature
OMIM:601680	TPM2	7169	HP:0000218	High palate
OMIM:601680	TPM2	7169	HP:0000325	Triangular face
OMIM:601680	TPM2	7169	HP:0005684	Distal arthrogryposis
OMIM:601680	TPM2	7169	HP:0100490	Camptodactyly of finger
OMIM:601680	TPM2	7169	HP:0000343	Long philtrum
OMIM:601680	TPM2	7169	HP:0000465	Webbed neck
OMIM:601680	TPM2	7169	HP:0001840	Metatarsus adductus
OMIM:601680	TPM2	7169	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TPM2	7169	HP:0000160	Narrow mouth
OMIM:601680	TPM2	7169	HP:0000598	Abnormality of the ear
OMIM:601680	TPM2	7169	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TPM2	7169	HP:0001848	Calcaneovalgus deformity
OMIM:601680	TPM2	7169	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TPM2	7169	HP:0006109	Absent phalangeal crease
OMIM:601680	TPM2	7169	HP:0005272	Prominent nasolabial fold
OMIM:601680	TPM2	7169	HP:0000303	Mandibular prognathia
OMIM:601680	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TPM2	7169	HP:0000431	Wide nasal bridge
OMIM:601680	TPM2	7169	HP:0001762	Talipes equinovarus
OMIM:601680	TPM2	7169	HP:0000347	Micrognathia
OMIM:601680	TPM2	7169	HP:0003049	Ulnar deviation of the wrist
OMIM:601680	TNNT3	7140	HP:0001838	Rocker bottom foot
OMIM:601680	TNNT3	7140	HP:0002650	Scoliosis
OMIM:601680	TNNT3	7140	HP:0004322	Short stature
OMIM:601680	TNNT3	7140	HP:0000218	High palate
OMIM:601680	TNNT3	7140	HP:0000325	Triangular face
OMIM:601680	TNNT3	7140	HP:0005684	Distal arthrogryposis
OMIM:601680	TNNT3	7140	HP:0100490	Camptodactyly of finger
OMIM:601680	TNNT3	7140	HP:0000343	Long philtrum
OMIM:601680	TNNT3	7140	HP:0000465	Webbed neck
OMIM:601680	TNNT3	7140	HP:0001840	Metatarsus adductus
OMIM:601680	TNNT3	7140	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TNNT3	7140	HP:0000160	Narrow mouth
OMIM:601680	TNNT3	7140	HP:0000598	Abnormality of the ear
OMIM:601680	TNNT3	7140	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TNNT3	7140	HP:0001848	Calcaneovalgus deformity
OMIM:601680	TNNT3	7140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TNNT3	7140	HP:0006109	Absent phalangeal crease
OMIM:601680	TNNT3	7140	HP:0005272	Prominent nasolabial fold
OMIM:601680	TNNT3	7140	HP:0000303	Mandibular prognathia
OMIM:601680	TNNT3	7140	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TNNT3	7140	HP:0000431	Wide nasal bridge
OMIM:601680	TNNT3	7140	HP:0001762	Talipes equinovarus
OMIM:601680	TNNT3	7140	HP:0000347	Micrognathia
OMIM:601680	TNNT3	7140	HP:0003049	Ulnar deviation of the wrist
OMIM:601680	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:601680	MYH3	4621	HP:0002650	Scoliosis
OMIM:601680	MYH3	4621	HP:0004322	Short stature
OMIM:601680	MYH3	4621	HP:0000218	High palate
OMIM:601680	MYH3	4621	HP:0000325	Triangular face
OMIM:601680	MYH3	4621	HP:0005684	Distal arthrogryposis
OMIM:601680	MYH3	4621	HP:0100490	Camptodactyly of finger
OMIM:601680	MYH3	4621	HP:0000343	Long philtrum
OMIM:601680	MYH3	4621	HP:0000465	Webbed neck
OMIM:601680	MYH3	4621	HP:0001840	Metatarsus adductus
OMIM:601680	MYH3	4621	HP:0000494	Downslanted palpebral fissures
OMIM:601680	MYH3	4621	HP:0000160	Narrow mouth
OMIM:601680	MYH3	4621	HP:0000598	Abnormality of the ear
OMIM:601680	MYH3	4621	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	MYH3	4621	HP:0001848	Calcaneovalgus deformity
OMIM:601680	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	MYH3	4621	HP:0006109	Absent phalangeal crease
OMIM:601680	MYH3	4621	HP:0005272	Prominent nasolabial fold
OMIM:601680	MYH3	4621	HP:0000303	Mandibular prognathia
OMIM:601680	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:601680	MYH3	4621	HP:0000431	Wide nasal bridge
OMIM:601680	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:601680	MYH3	4621	HP:0000347	Micrognathia
OMIM:601680	MYH3	4621	HP:0003049	Ulnar deviation of the wrist
OMIM:614963	LEPR	3953	HP:0000718	Aggressive behavior
OMIM:614963	LEPR	3953	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614963	LEPR	3953	HP:0001513	Obesity
OMIM:614963	LEPR	3953	HP:0012286	Abnormal hypothalamus morphology
OMIM:614963	LEPR	3953	HP:0000824	Growth hormone deficiency
OMIM:614963	LEPR	3953	HP:0008245	Pituitary hypothyroidism
OMIM:614963	LEPR	3953	HP:0002591	Polyphagia
OMIM:614963	LEPR	3953	HP:0000823	Delayed puberty
OMIM:614963	LEPR	3953	HP:0002958	Immune dysregulation
OMIM:617303	VPS33A	65082	HP:0012471	Thick vermilion border
OMIM:617303	VPS33A	65082	HP:0000943	Dysostosis multiplex
OMIM:617303	VPS33A	65082	HP:0002208	Coarse hair
OMIM:617303	VPS33A	65082	HP:0011220	Prominent forehead
OMIM:617303	VPS33A	65082	HP:0000286	Epicanthus
OMIM:617303	VPS33A	65082	HP:0002098	Respiratory distress
OMIM:617303	VPS33A	65082	HP:0001639	Hypertrophic cardiomyopathy
OMIM:617303	VPS33A	65082	HP:0001403	Macrovesicular hepatic steatosis
OMIM:617303	VPS33A	65082	HP:0001873	Thrombocytopenia
OMIM:617303	VPS33A	65082	HP:0000158	Macroglossia
OMIM:617303	VPS33A	65082	HP:0000280	Coarse facial features
OMIM:617303	VPS33A	65082	HP:0002240	Hepatomegaly
OMIM:617303	VPS33A	65082	HP:0000007	Autosomal recessive inheritance
OMIM:617303	VPS33A	65082	HP:0000664	Synophrys
OMIM:617303	VPS33A	65082	HP:0001007	Hirsutism
OMIM:617303	VPS33A	65082	HP:0001903	Anemia
OMIM:617303	VPS33A	65082	HP:0000767	Pectus excavatum
OMIM:617303	VPS33A	65082	HP:0008807	Acetabular dysplasia
OMIM:617303	VPS33A	65082	HP:0001744	Splenomegaly
OMIM:617303	VPS33A	65082	HP:0000648	Optic atrophy
OMIM:617303	VPS33A	65082	HP:0001263	Global developmental delay
OMIM:617303	VPS33A	65082	HP:0000470	Short neck
OMIM:617303	VPS33A	65082	HP:0000431	Wide nasal bridge
OMIM:617303	VPS33A	65082	HP:0002680	J-shaped sella turcica
OMIM:617303	VPS33A	65082	HP:0003593	Infantile onset
OMIM:617303	VPS33A	65082	HP:0000527	Long eyelashes
OMIM:617303	VPS33A	65082	HP:0000092	Tubular atrophy
OMIM:617303	VPS33A	65082	HP:0000097	Focal segmental glomerulosclerosis
OMIM:617303	VPS33A	65082	HP:0000093	Proteinuria
OMIM:617303	VPS33A	65082	HP:0000506	Telecanthus
OMIM:617303	VPS33A	65082	HP:0002205	Recurrent respiratory infections
OMIM:617303	VPS33A	65082	HP:0001760	Abnormality of the foot
OMIM:617303	VPS33A	65082	HP:0001643	Patent ductus arteriosus
OMIM:617303	VPS33A	65082	HP:0000768	Pectus carinatum
OMIM:617303	VPS33A	65082	HP:0000445	Wide nose
OMIM:617303	VPS33A	65082	HP:0001371	Flexion contracture
OMIM:617303	VPS33A	65082	HP:0002869	Flared iliac wings
OMIM:615420	PRIMPOL	201973	HP:0000006	Autosomal dominant inheritance
OMIM:615420	PRIMPOL	201973	HP:0000505	Visual impairment
OMIM:615420	PRIMPOL	201973	HP:0007663	Reduced visual acuity
OMIM:615420	PRIMPOL	201973	HP:0000545	Myopia
ORPHA:1010	GJA1	2697	HP:0000982	Palmoplantar keratoderma
ORPHA:1010	GJA1	2697	HP:0005597	Congenital alopecia totalis
ORPHA:1010	GJA1	2697	HP:0000972	Palmoplantar hyperkeratosis
ORPHA:1010	GJA1	2697	HP:0100798	Fingernail dysplasia
OMIM:231690	SUGCT	79783	HP:0002013	Vomiting
OMIM:231690	SUGCT	79783	HP:0000007	Autosomal recessive inheritance
OMIM:231690	SUGCT	79783	HP:0000822	Hypertension
OMIM:231690	SUGCT	79783	HP:0002014	Diarrhea
OMIM:231690	SUGCT	79783	HP:0001508	Failure to thrive
OMIM:231690	SUGCT	79783	HP:0003150	Glutaric aciduria
OMIM:602473	ETHE1	23474	HP:0001298	Encephalopathy
OMIM:602473	ETHE1	23474	HP:0008046	Abnormality of the retinal vasculature
OMIM:602473	ETHE1	23474	HP:0001508	Failure to thrive
OMIM:602473	ETHE1	23474	HP:0002376	Developmental regression
OMIM:602473	ETHE1	23474	HP:0000007	Autosomal recessive inheritance
OMIM:602473	ETHE1	23474	HP:0001250	Seizures
OMIM:602473	ETHE1	23474	HP:0003128	Lactic acidosis
OMIM:602473	ETHE1	23474	HP:0000967	Petechiae
OMIM:602473	ETHE1	23474	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:602473	ETHE1	23474	HP:0001251	Ataxia
OMIM:602473	ETHE1	23474	HP:0001249	Intellectual disability
OMIM:602473	ETHE1	23474	HP:0001290	Generalized hypotonia
OMIM:602473	ETHE1	23474	HP:0001263	Global developmental delay
OMIM:602473	ETHE1	23474	HP:0003219	Ethylmalonic aciduria
OMIM:602473	ETHE1	23474	HP:0007183	Focal T2 hyperintense basal ganglia lesion
OMIM:602473	ETHE1	23474	HP:0002028	Chronic diarrhea
OMIM:602473	ETHE1	23474	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:94063	LEMD3	23592	HP:0001328	Specific learning disability
ORPHA:94063	LEMD3	23592	HP:0010739	Osteopoikilosis
ORPHA:94063	LEMD3	23592	HP:0000316	Hypertelorism
ORPHA:94063	LEMD3	23592	HP:0000750	Delayed speech and language development
ORPHA:94063	LEMD3	23592	HP:0004322	Short stature
ORPHA:94063	LEMD3	23592	HP:0001263	Global developmental delay
ORPHA:94063	LEMD3	23592	HP:0001337	Tremor
ORPHA:94063	LEMD3	23592	HP:0001511	Intrauterine growth retardation
ORPHA:94063	LEMD3	23592	HP:0001256	Intellectual disability, mild
ORPHA:94063	LEMD3	23592	HP:0000953	Hyperpigmentation of the skin
ORPHA:94063	LEMD3	23592	HP:0001508	Failure to thrive
ORPHA:94063	HMGA2	8091	HP:0001328	Specific learning disability
ORPHA:94063	HMGA2	8091	HP:0010739	Osteopoikilosis
ORPHA:94063	HMGA2	8091	HP:0000316	Hypertelorism
ORPHA:94063	HMGA2	8091	HP:0000750	Delayed speech and language development
ORPHA:94063	HMGA2	8091	HP:0004322	Short stature
ORPHA:94063	HMGA2	8091	HP:0001263	Global developmental delay
ORPHA:94063	HMGA2	8091	HP:0001337	Tremor
ORPHA:94063	HMGA2	8091	HP:0001511	Intrauterine growth retardation
ORPHA:94063	HMGA2	8091	HP:0001256	Intellectual disability, mild
ORPHA:94063	HMGA2	8091	HP:0000953	Hyperpigmentation of the skin
ORPHA:94063	HMGA2	8091	HP:0001508	Failure to thrive
OMIM:604864	COL2A1	1280	HP:0005086	Knee osteoarthritis
OMIM:604864	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:604864	COL2A1	1280	HP:0004322	Short stature
OMIM:604864	COL2A1	1280	HP:0004568	Beaking of vertebral bodies
OMIM:604864	COL2A1	1280	HP:0008843	Hip osteoarthritis
OMIM:604864	COL2A1	1280	HP:0012313	Heberden's node
OMIM:604864	COL2A1	1280	HP:0003301	Irregular vertebral endplates
OMIM:604864	COL2A1	1280	HP:0030041	Schmorl's node
OMIM:604864	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:604864	COL2A1	1280	HP:0001387	Joint stiffness
OMIM:612160	CREB1	1385	HP:0012315	Histiocytoma
OMIM:612160	CREB1	1385	HP:0001428	Somatic mutation
OMIM:616198	GTPBP3	84705	HP:0003828	Variable expressivity
OMIM:616198	GTPBP3	84705	HP:0003128	Lactic acidosis
OMIM:616198	GTPBP3	84705	HP:0011968	Feeding difficulties
OMIM:616198	GTPBP3	84705	HP:0011675	Arrhythmia
OMIM:616198	GTPBP3	84705	HP:0001263	Global developmental delay
OMIM:616198	GTPBP3	84705	HP:0002151	Increased serum lactate
OMIM:616198	GTPBP3	84705	HP:0001511	Intrauterine growth retardation
OMIM:616198	GTPBP3	84705	HP:0001635	Congestive heart failure
OMIM:616198	GTPBP3	84705	HP:0001638	Cardiomyopathy
OMIM:616198	GTPBP3	84705	HP:0000007	Autosomal recessive inheritance
OMIM:616198	GTPBP3	84705	HP:0001290	Generalized hypotonia
OMIM:605258	AICDA	57379	HP:0004315	IgG deficiency
OMIM:605258	AICDA	57379	HP:0000007	Autosomal recessive inheritance
OMIM:605258	AICDA	57379	HP:0002718	Recurrent bacterial infections
OMIM:605258	AICDA	57379	HP:0002721	Immunodeficiency
OMIM:605258	AICDA	57379	HP:0002720	IgA deficiency
OMIM:605258	AICDA	57379	HP:0004798	Recurrent infection of the gastrointestinal tract
OMIM:605258	AICDA	57379	HP:0002716	Lymphadenopathy
OMIM:605258	AICDA	57379	HP:0200117	Recurrent upper and lower respiratory tract infections
OMIM:605258	AICDA	57379	HP:0002205	Recurrent respiratory infections
OMIM:605258	AICDA	57379	HP:0002959	Impaired Ig class switch recombination
OMIM:156510	RUNX2	860	HP:0000444	Convex nasal ridge
OMIM:156510	RUNX2	860	HP:0003015	Flared metaphysis
OMIM:156510	RUNX2	860	HP:0005625	Osteoporosis of vertebrae
OMIM:156510	RUNX2	860	HP:0010047	Short 5th metacarpal
OMIM:156510	RUNX2	860	HP:0004220	Short middle phalanx of the 5th finger
OMIM:156510	RUNX2	860	HP:0004322	Short stature
OMIM:156510	RUNX2	860	HP:0006480	Premature loss of teeth
OMIM:156510	RUNX2	860	HP:0000006	Autosomal dominant inheritance
OMIM:156510	RUNX2	860	HP:0000327	Hypoplasia of the maxilla
OMIM:156510	RUNX2	860	HP:0000233	Thin vermilion border
OMIM:156510	RUNX2	860	HP:0009577	Short middle phalanx of the 2nd finger
OMIM:156510	RUNX2	860	HP:0100255	Metaphyseal dysplasia
OMIM:156510	RUNX2	860	HP:0000322	Short philtrum
OMIM:156510	RUNX2	860	HP:0005877	Multiple small vertebral fractures
OMIM:156510	RUNX2	860	HP:0000926	Platyspondyly
OMIM:613161	UPB1	51733	HP:0001319	Neonatal hypotonia
OMIM:613161	UPB1	51733	HP:0002167	Neurological speech impairment
OMIM:613161	UPB1	51733	HP:0001263	Global developmental delay
OMIM:613161	UPB1	51733	HP:0001332	Dystonia
OMIM:613161	UPB1	51733	HP:0003593	Infantile onset
OMIM:613161	UPB1	51733	HP:0000007	Autosomal recessive inheritance
OMIM:613161	UPB1	51733	HP:0002188	Delayed CNS myelination
OMIM:613161	UPB1	51733	HP:0002836	Bladder exstrophy
OMIM:604391	MRE11	4361	HP:0000571	Hypometric saccades
OMIM:604391	MRE11	4361	HP:0000640	Gaze-evoked nystagmus
OMIM:604391	MRE11	4361	HP:0002072	Chorea
OMIM:604391	MRE11	4361	HP:0003828	Variable expressivity
OMIM:604391	MRE11	4361	HP:0002066	Gait ataxia
OMIM:604391	MRE11	4361	HP:0001272	Cerebellar atrophy
OMIM:604391	MRE11	4361	HP:0000007	Autosomal recessive inheritance
OMIM:604391	MRE11	4361	HP:0001260	Dysarthria
OMIM:604391	MRE11	4361	HP:0000657	Oculomotor apraxia
OMIM:604391	MRE11	4361	HP:0001265	Hyporeflexia
OMIM:604391	MRE11	4361	HP:0001009	Telangiectasia
OMIM:604391	MRE11	4361	HP:0001332	Dystonia
OMIM:604391	MRE11	4361	HP:0002061	Lower limb spasticity
OMIM:604391	MRE11	4361	HP:0002075	Dysdiadochokinesis
OMIM:604391	MRE11	4361	HP:0002359	Frequent falls
OMIM:604391	MRE11	4361	HP:0003693	Distal amyotrophy
OMIM:604391	MRE11	4361	HP:0003676	Progressive
OMIM:604391	MRE11	4361	HP:0007772	Impaired smooth pursuit
OMIM:144650	APOA5	116519	HP:0012238	Increased circulating chylomicron levels
OMIM:144650	APOA5	116519	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:144650	APOA5	116519	HP:0000006	Autosomal dominant inheritance
OMIM:144650	APOA5	116519	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:144650	APOA5	116519	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:3000	LHCGR	3973	HP:0003251	Male infertility
ORPHA:3000	LHCGR	3973	HP:0000826	Precocious puberty
ORPHA:3000	LHCGR	3973	HP:0001595	Abnormality of the hair
ORPHA:3000	LHCGR	3973	HP:0005616	Accelerated skeletal maturation
ORPHA:3000	LHCGR	3973	HP:0000098	Tall stature
ORPHA:3000	LHCGR	3973	HP:0001061	Acne
ORPHA:3000	LHCGR	3973	HP:0000040	Long penis
OMIM:610852	NME8	51314	HP:0200109	Absent/shortened outer dynein arms
OMIM:610852	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:610852	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:610852	NME8	51314	HP:0000246	Sinusitis
OMIM:610852	NME8	51314	HP:0005938	Abnormal respiratory motile cilium morphology
OMIM:610852	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:610852	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:610852	NME8	51314	HP:0012265	Ciliary dyskinesia
OMIM:112600	BMPR1B	658	HP:0004322	Short stature
OMIM:112600	BMPR1B	658	HP:0008096	Medially deviated second toe
OMIM:112600	BMPR1B	658	HP:0009182	Triangular shaped middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0001822	Hallux valgus
OMIM:112600	BMPR1B	658	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0009204	Bracket epiphysis of the middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0010109	Short hallux
OMIM:112600	BMPR1B	658	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	BMPR1B	658	HP:0009467	Radial deviation of the 2nd finger
OMIM:112600	BMPR1B	658	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	BMPR1B	658	HP:0010055	Broad hallux
OMIM:112600	BMPR1B	658	HP:0009514	Bracket epiphysis of the middle phalanx of the 2nd finger
OMIM:112600	BMPR1B	658	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0000006	Autosomal dominant inheritance
OMIM:112600	BMPR1B	658	HP:0009536	Short 2nd finger
OMIM:112600	BMPR1B	658	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:112600	BMPR1B	658	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:112600	BMPR1B	658	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
OMIM:112600	BMPR1B	658	HP:0004691	2-3 toe syndactyly
OMIM:112600	GDF5	8200	HP:0004322	Short stature
OMIM:112600	GDF5	8200	HP:0008096	Medially deviated second toe
OMIM:112600	GDF5	8200	HP:0009182	Triangular shaped middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0001822	Hallux valgus
OMIM:112600	GDF5	8200	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0009204	Bracket epiphysis of the middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0010109	Short hallux
OMIM:112600	GDF5	8200	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	GDF5	8200	HP:0009467	Radial deviation of the 2nd finger
OMIM:112600	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	GDF5	8200	HP:0010055	Broad hallux
OMIM:112600	GDF5	8200	HP:0009514	Bracket epiphysis of the middle phalanx of the 2nd finger
OMIM:112600	GDF5	8200	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:112600	GDF5	8200	HP:0009536	Short 2nd finger
OMIM:112600	GDF5	8200	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:112600	GDF5	8200	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:112600	GDF5	8200	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
OMIM:112600	GDF5	8200	HP:0004691	2-3 toe syndactyly
OMIM:112600	BMP2	650	HP:0004322	Short stature
OMIM:112600	BMP2	650	HP:0008096	Medially deviated second toe
OMIM:112600	BMP2	650	HP:0009182	Triangular shaped middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0001822	Hallux valgus
OMIM:112600	BMP2	650	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0009204	Bracket epiphysis of the middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0010109	Short hallux
OMIM:112600	BMP2	650	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	BMP2	650	HP:0009467	Radial deviation of the 2nd finger
OMIM:112600	BMP2	650	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	BMP2	650	HP:0010055	Broad hallux
OMIM:112600	BMP2	650	HP:0009514	Bracket epiphysis of the middle phalanx of the 2nd finger
OMIM:112600	BMP2	650	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0000006	Autosomal dominant inheritance
OMIM:112600	BMP2	650	HP:0009536	Short 2nd finger
OMIM:112600	BMP2	650	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OMIM:112600	BMP2	650	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:112600	BMP2	650	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
OMIM:112600	BMP2	650	HP:0004691	2-3 toe syndactyly
OMIM:604356	CHN1	1123	HP:0009921	Duane anomaly
OMIM:604356	CHN1	1123	HP:0000006	Autosomal dominant inheritance
ORPHA:25	GCDH	2639	HP:0011220	Prominent forehead
ORPHA:25	GCDH	2639	HP:0000256	Macrocephaly
ORPHA:25	GCDH	2639	HP:0000737	Irritability
ORPHA:25	GCDH	2639	HP:0001266	Choreoathetosis
ORPHA:25	GCDH	2639	HP:0001373	Joint dislocation
ORPHA:25	GCDH	2639	HP:0002013	Vomiting
ORPHA:25	GCDH	2639	HP:0001252	Muscular hypotonia
ORPHA:25	GCDH	2639	HP:0001257	Spasticity
ORPHA:25	GCDH	2639	HP:0001942	Metabolic acidosis
ORPHA:25	GCDH	2639	HP:0008872	Feeding difficulties in infancy
ORPHA:25	GCDH	2639	HP:0001332	Dystonia
ORPHA:25	GCDH	2639	HP:0001298	Encephalopathy
ORPHA:25	GCDH	2639	HP:0001999	Abnormal facial shape
ORPHA:25	GCDH	2639	HP:0000239	Large fontanelles
ORPHA:25	GCDH	2639	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:25	GCDH	2639	HP:0100660	Dyskinesia
OMIM:610265	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610265	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:616833	ZNF687	57592	HP:0000006	Autosomal dominant inheritance
OMIM:616833	ZNF687	57592	HP:0002757	Recurrent fractures
OMIM:616833	ZNF687	57592	HP:0002758	Osteoarthritis
OMIM:616833	ZNF687	57592	HP:0002653	Bone pain
OMIM:616833	ZNF687	57592	HP:0003155	Elevated alkaline phosphatase
OMIM:616833	ZNF687	57592	HP:0003581	Adult onset
OMIM:116800	HSF4	3299	HP:0007971	Lamellar cataract
OMIM:116800	HSF4	3299	HP:0001134	Anterior polar cataract
OMIM:116800	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:116800	HSF4	3299	HP:0100018	Nuclear cataract
OMIM:116800	HSF4	3299	HP:0010693	Pulverulent cataract
OMIM:252920	NAGLU	4669	HP:0002014	Diarrhea
OMIM:252920	NAGLU	4669	HP:0001640	Cardiomegaly
OMIM:252920	NAGLU	4669	HP:0000250	Dense calvaria
OMIM:252920	NAGLU	4669	HP:0002159	Heparan sulfate excretion in urine
OMIM:252920	NAGLU	4669	HP:0000280	Coarse facial features
OMIM:252920	NAGLU	4669	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252920	NAGLU	4669	HP:0001250	Seizures
OMIM:252920	NAGLU	4669	HP:0000752	Hyperactivity
OMIM:252920	NAGLU	4669	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252920	NAGLU	4669	HP:0000007	Autosomal recessive inheritance
OMIM:252920	NAGLU	4669	HP:0000900	Thickened ribs
OMIM:252920	NAGLU	4669	HP:0002208	Coarse hair
OMIM:252920	NAGLU	4669	HP:0001249	Intellectual disability
OMIM:252920	NAGLU	4669	HP:0000365	Hearing impairment
OMIM:252920	NAGLU	4669	HP:0000718	Aggressive behavior
OMIM:252920	NAGLU	4669	HP:0000664	Synophrys
OMIM:252920	NAGLU	4669	HP:0001744	Splenomegaly
OMIM:252920	NAGLU	4669	HP:0002240	Hepatomegaly
OMIM:252920	NAGLU	4669	HP:0002360	Sleep disturbance
OMIM:252920	NAGLU	4669	HP:0003621	Juvenile onset
OMIM:252920	NAGLU	4669	HP:0002344	Progressive neurologic deterioration
OMIM:252920	NAGLU	4669	HP:0001670	Asymmetric septal hypertrophy
OMIM:252920	NAGLU	4669	HP:0000943	Dysostosis multiplex
OMIM:252920	NAGLU	4669	HP:0001387	Joint stiffness
OMIM:252920	NAGLU	4669	HP:0001007	Hirsutism
OMIM:200110	TWIST2	117581	HP:0000006	Autosomal dominant inheritance
OMIM:200110	TWIST2	117581	HP:0000958	Dry skin
OMIM:200110	TWIST2	117581	HP:0000316	Hypertelorism
OMIM:200110	TWIST2	117581	HP:0011267	Microtia, third degree
OMIM:200110	TWIST2	117581	HP:0000007	Autosomal recessive inheritance
OMIM:200110	TWIST2	117581	HP:0000062	Ambiguous genitalia
OMIM:200110	TWIST2	117581	HP:0000154	Wide mouth
OMIM:200110	TWIST2	117581	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:200110	TWIST2	117581	HP:0001126	Cryptophthalmos
OMIM:200110	TWIST2	117581	HP:0002933	Ventral hernia
OMIM:200110	TWIST2	117581	HP:0005105	Abnormal nasal morphology
OMIM:200110	TWIST2	117581	HP:0011224	Ablepharon
OMIM:200110	TWIST2	117581	HP:0000561	Absent eyelashes
OMIM:200110	TWIST2	117581	HP:0002223	Absent eyebrow
OMIM:200110	TWIST2	117581	HP:0000750	Delayed speech and language development
OMIM:125420	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:125420	DSPP	1834	HP:0003771	Pulp stones
OMIM:125420	DSPP	1834	HP:0011060	Dentinogenesis imperfecta limited to primary teeth
ORPHA:93258	FGFR1	2260	HP:0000369	Low-set ears
ORPHA:93258	FGFR1	2260	HP:0006101	Finger syndactyly
ORPHA:93258	FGFR1	2260	HP:0000316	Hypertelorism
ORPHA:93258	FGFR1	2260	HP:0000248	Brachycephaly
ORPHA:93258	FGFR1	2260	HP:0010109	Short hallux
ORPHA:93258	FGFR1	2260	HP:0011800	Midface retrusion
ORPHA:93258	FGFR1	2260	HP:0008080	Hallux varus
ORPHA:93258	FGFR1	2260	HP:0011304	Broad thumb
ORPHA:93258	FGFR1	2260	HP:0005280	Depressed nasal bridge
ORPHA:93258	FGFR1	2260	HP:0001773	Short foot
ORPHA:93258	FGFR1	2260	HP:0003196	Short nose
ORPHA:93258	FGFR1	2260	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:93258	FGFR1	2260	HP:0010059	Broad hallux phalanx
ORPHA:93258	FGFR1	2260	HP:0000520	Proptosis
ORPHA:93258	FGFR1	2260	HP:0000218	High palate
ORPHA:93258	FGFR1	2260	HP:0011318	Bicoronal synostosis
ORPHA:93258	FGFR1	2260	HP:0000348	High forehead
ORPHA:93258	FGFR1	2260	HP:0004279	Short palm
ORPHA:93258	FGFR1	2260	HP:0001770	Toe syndactyly
ORPHA:93258	FGFR2	2263	HP:0000369	Low-set ears
ORPHA:93258	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHA:93258	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:93258	FGFR2	2263	HP:0000248	Brachycephaly
ORPHA:93258	FGFR2	2263	HP:0010109	Short hallux
ORPHA:93258	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:93258	FGFR2	2263	HP:0008080	Hallux varus
ORPHA:93258	FGFR2	2263	HP:0011304	Broad thumb
ORPHA:93258	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHA:93258	FGFR2	2263	HP:0001773	Short foot
ORPHA:93258	FGFR2	2263	HP:0003196	Short nose
ORPHA:93258	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:93258	FGFR2	2263	HP:0010059	Broad hallux phalanx
ORPHA:93258	FGFR2	2263	HP:0000520	Proptosis
ORPHA:93258	FGFR2	2263	HP:0000218	High palate
ORPHA:93258	FGFR2	2263	HP:0011318	Bicoronal synostosis
ORPHA:93258	FGFR2	2263	HP:0000348	High forehead
ORPHA:93258	FGFR2	2263	HP:0004279	Short palm
ORPHA:93258	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:263400	VHL	7428	HP:0001900	Increased hemoglobin
OMIM:263400	VHL	7428	HP:0002615	Hypotension
OMIM:263400	VHL	7428	HP:0002619	Varicose veins
OMIM:263400	VHL	7428	HP:0001898	Increased red blood cell mass
OMIM:263400	VHL	7428	HP:0012378	Fatigue
OMIM:263400	VHL	7428	HP:0001342	Cerebral hemorrhage
OMIM:263400	VHL	7428	HP:0002315	Headache
OMIM:263400	VHL	7428	HP:0001050	Plethora
OMIM:263400	VHL	7428	HP:0000007	Autosomal recessive inheritance
OMIM:263400	VHL	7428	HP:0001028	Hemangioma
OMIM:263400	VHL	7428	HP:0002641	Peripheral thrombosis
OMIM:263400	VHL	7428	HP:0001899	Increased hematocrit
OMIM:263400	VHL	7428	HP:0001297	Stroke
OMIM:614887	PEX14	5195	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:614887	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614887	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX14	5195	HP:0005469	Flat occiput
OMIM:614887	PEX14	5195	HP:0011398	Central hypotonia
OMIM:614887	PEX14	5195	HP:0000268	Dolichocephaly
OMIM:614887	PEX14	5195	HP:0000347	Micrognathia
OMIM:614887	PEX14	5195	HP:0001250	Seizures
OMIM:614887	PEX14	5195	HP:0000239	Large fontanelles
OMIM:614887	PEX14	5195	HP:0000325	Triangular face
OMIM:614887	PEX14	5195	HP:0000478	Abnormality of the eye
OMIM:614887	PEX14	5195	HP:0000348	High forehead
OMIM:614887	PEX14	5195	HP:0000952	Jaundice
OMIM:614887	PEX14	5195	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX14	5195	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX14	5195	HP:0001290	Generalized hypotonia
OMIM:614887	PEX14	5195	HP:0011968	Feeding difficulties
OMIM:616294	SEC24D	9871	HP:0000592	Blue sclerae
OMIM:616294	SEC24D	9871	HP:0000316	Hypertelorism
OMIM:616294	SEC24D	9871	HP:0000883	Thin ribs
OMIM:616294	SEC24D	9871	HP:0000238	Hydrocephalus
OMIM:616294	SEC24D	9871	HP:0000218	High palate
OMIM:616294	SEC24D	9871	HP:0000256	Macrocephaly
OMIM:616294	SEC24D	9871	HP:0001620	High pitched voice
OMIM:616294	SEC24D	9871	HP:0000308	Microretrognathia
OMIM:616294	SEC24D	9871	HP:0000767	Pectus excavatum
OMIM:616294	SEC24D	9871	HP:0004322	Short stature
OMIM:616294	SEC24D	9871	HP:0004440	Coronal craniosynostosis
OMIM:616294	SEC24D	9871	HP:0000520	Proptosis
OMIM:616294	SEC24D	9871	HP:0000007	Autosomal recessive inheritance
OMIM:616294	SEC24D	9871	HP:0008897	Postnatal growth retardation
OMIM:616294	SEC24D	9871	HP:0000325	Triangular face
OMIM:616294	SEC24D	9871	HP:0000494	Downslanted palpebral fissures
OMIM:616294	SEC24D	9871	HP:0000926	Platyspondyly
OMIM:616294	SEC24D	9871	HP:0000938	Osteopenia
OMIM:616294	SEC24D	9871	HP:0004443	Lambdoidal craniosynostosis
OMIM:616294	SEC24D	9871	HP:0001562	Oligohydramnios
OMIM:616294	SEC24D	9871	HP:0002007	Frontal bossing
OMIM:616294	SEC24D	9871	HP:0011800	Midface retrusion
OMIM:609033	FLVCR1	28982	HP:0002403	Positive Romberg sign
OMIM:609033	FLVCR1	28982	HP:0010871	Sensory ataxia
OMIM:609033	FLVCR1	28982	HP:0002136	Broad-based gait
OMIM:609033	FLVCR1	28982	HP:0002650	Scoliosis
OMIM:609033	FLVCR1	28982	HP:0003677	Slow progression
OMIM:609033	FLVCR1	28982	HP:0000010	Recurrent urinary tract infections
OMIM:609033	FLVCR1	28982	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:609033	FLVCR1	28982	HP:0000575	Scotoma
OMIM:609033	FLVCR1	28982	HP:0007737	Bone spicule pigmentation of the retina
OMIM:609033	FLVCR1	28982	HP:0000550	Undetectable electroretinogram
OMIM:609033	FLVCR1	28982	HP:0001284	Areflexia
OMIM:609033	FLVCR1	28982	HP:0009473	Joint contracture of the hand
OMIM:609033	FLVCR1	28982	HP:0000648	Optic atrophy
OMIM:609033	FLVCR1	28982	HP:0003202	Skeletal muscle atrophy
OMIM:609033	FLVCR1	28982	HP:0000020	Urinary incontinence
OMIM:609033	FLVCR1	28982	HP:0011463	Childhood onset
OMIM:609033	FLVCR1	28982	HP:0012385	Camptodactyly
OMIM:609033	FLVCR1	28982	HP:0000510	Rod-cone dystrophy
OMIM:609033	FLVCR1	28982	HP:0000618	Blindness
OMIM:609033	FLVCR1	28982	HP:0030529	Ring scotoma
OMIM:609033	FLVCR1	28982	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:609033	FLVCR1	28982	HP:0000662	Nyctalopia
OMIM:609033	FLVCR1	28982	HP:0002460	Distal muscle weakness
OMIM:609033	FLVCR1	28982	HP:0002571	Achalasia
OMIM:609033	FLVCR1	28982	HP:0000007	Autosomal recessive inheritance
OMIM:615919	PCNA	5111	HP:0002015	Dysphagia
OMIM:615919	PCNA	5111	HP:0003323	Progressive muscle weakness
OMIM:615919	PCNA	5111	HP:0001324	Muscle weakness
OMIM:615919	PCNA	5111	HP:0000007	Autosomal recessive inheritance
OMIM:615919	PCNA	5111	HP:0000992	Cutaneous photosensitivity
OMIM:615919	PCNA	5111	HP:0001272	Cerebellar atrophy
OMIM:615919	PCNA	5111	HP:0002180	Neurodegeneration
OMIM:615919	PCNA	5111	HP:0002317	Unsteady gait
OMIM:615919	PCNA	5111	HP:0001251	Ataxia
OMIM:615919	PCNA	5111	HP:0000613	Photophobia
OMIM:615919	PCNA	5111	HP:0003676	Progressive
OMIM:615919	PCNA	5111	HP:0001260	Dysarthria
OMIM:615919	PCNA	5111	HP:0001263	Global developmental delay
OMIM:615919	PCNA	5111	HP:0001761	Pes cavus
OMIM:615919	PCNA	5111	HP:0004322	Short stature
OMIM:615919	PCNA	5111	HP:0000524	Conjunctival telangiectasia
OMIM:607626	CLDN1	9076	HP:0001006	Hypotrichosis
OMIM:607626	CLDN1	9076	HP:0006297	Hypoplasia of dental enamel
OMIM:607626	CLDN1	9076	HP:0000007	Autosomal recessive inheritance
OMIM:607626	CLDN1	9076	HP:0000677	Oligodontia
OMIM:607626	CLDN1	9076	HP:0001596	Alopecia
OMIM:607626	CLDN1	9076	HP:0000653	Sparse eyelashes
OMIM:607626	CLDN1	9076	HP:0040162	Orthokeratosis
OMIM:607626	CLDN1	9076	HP:0025092	Epidermal acanthosis
OMIM:607626	CLDN1	9076	HP:0002240	Hepatomegaly
OMIM:607626	CLDN1	9076	HP:0001036	Parakeratosis
OMIM:607626	CLDN1	9076	HP:0008064	Ichthyosis
OMIM:607626	CLDN1	9076	HP:0000958	Dry skin
OMIM:607626	CLDN1	9076	HP:0000952	Jaundice
OMIM:607626	CLDN1	9076	HP:0000668	Hypodontia
OMIM:607626	CLDN1	9076	HP:0030151	Cholangitis
OMIM:607626	CLDN1	9076	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:613075	RIN2	54453	HP:0000973	Cutis laxa
OMIM:613075	RIN2	54453	HP:0008070	Sparse hair
OMIM:613075	RIN2	54453	HP:0000179	Thick lower lip vermilion
OMIM:613075	RIN2	54453	HP:0100540	Palpebral edema
OMIM:613075	RIN2	54453	HP:0001596	Alopecia
OMIM:613075	RIN2	54453	HP:0001763	Pes planus
OMIM:613075	RIN2	54453	HP:0000007	Autosomal recessive inheritance
OMIM:613075	RIN2	54453	HP:0000974	Hyperextensible skin
OMIM:613075	RIN2	54453	HP:0000280	Coarse facial features
OMIM:613075	RIN2	54453	HP:0012472	Eclabion
OMIM:613075	RIN2	54453	HP:0001382	Joint hypermobility
OMIM:613075	RIN2	54453	HP:0000212	Gingival overgrowth
OMIM:613075	RIN2	54453	HP:0000494	Downslanted palpebral fissures
OMIM:613075	RIN2	54453	HP:0000535	Sparse and thin eyebrow
OMIM:613075	RIN2	54453	HP:0003010	Prolonged bleeding time
OMIM:613075	RIN2	54453	HP:0040079	Irregular dentition
OMIM:613075	RIN2	54453	HP:0004325	Decreased body weight
OMIM:613075	RIN2	54453	HP:0000978	Bruising susceptibility
OMIM:613075	RIN2	54453	HP:0001252	Muscular hypotonia
OMIM:613075	RIN2	54453	HP:0004322	Short stature
OMIM:613075	RIN2	54453	HP:0000766	Abnormality of the sternum
OMIM:613075	RIN2	54453	HP:0002650	Scoliosis
OMIM:613075	RIN2	54453	HP:0001620	High pitched voice
OMIM:601495	IGHM	3507	HP:0000509	Conjunctivitis
OMIM:601495	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:601495	IGHM	3507	HP:0100280	Crohn's disease
OMIM:601495	IGHM	3507	HP:0001875	Neutropenia
OMIM:601495	IGHM	3507	HP:0010976	B lymphocytopenia
OMIM:601495	IGHM	3507	HP:0001508	Failure to thrive
OMIM:601495	IGHM	3507	HP:0002014	Diarrhea
OMIM:601495	IGHM	3507	HP:0006532	Recurrent pneumonia
OMIM:601495	IGHM	3507	HP:0000403	Recurrent otitis media
OMIM:601495	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:601495	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:601495	IGHM	3507	HP:0003593	Infantile onset
OMIM:601495	IGHM	3507	HP:0002110	Bronchiectasis
OMIM:601495	IGHM	3507	HP:0011108	Recurrent sinusitis
OMIM:601495	IGHM	3507	HP:0002743	Recurrent enteroviral infections
OMIM:616325	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616325	MUSK	4593	HP:0010628	Facial palsy
OMIM:616325	MUSK	4593	HP:0001319	Neonatal hypotonia
OMIM:616325	MUSK	4593	HP:0003593	Infantile onset
OMIM:616325	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:616325	MUSK	4593	HP:0003391	Gowers sign
OMIM:616325	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:616325	MUSK	4593	HP:0003388	Easy fatigability
OMIM:616325	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616325	MUSK	4593	HP:0000508	Ptosis
OMIM:616325	MUSK	4593	HP:0000467	Neck muscle weakness
OMIM:613027	PHKG2	5261	HP:0003128	Lactic acidosis
OMIM:613027	PHKG2	5261	HP:0003593	Infantile onset
OMIM:613027	PHKG2	5261	HP:0001744	Splenomegaly
OMIM:613027	PHKG2	5261	HP:0003162	Fasting hypoglycemia
OMIM:613027	PHKG2	5261	HP:0002240	Hepatomegaly
OMIM:613027	PHKG2	5261	HP:0001408	Bile duct proliferation
OMIM:613027	PHKG2	5261	HP:0001946	Ketosis
OMIM:613027	PHKG2	5261	HP:0002910	Elevated hepatic transaminases
OMIM:613027	PHKG2	5261	HP:0002155	Hypertriglyceridemia
OMIM:613027	PHKG2	5261	HP:0000007	Autosomal recessive inheritance
OMIM:613027	PHKG2	5261	HP:0001290	Generalized hypotonia
OMIM:613027	PHKG2	5261	HP:0001394	Cirrhosis
OMIM:613027	PHKG2	5261	HP:0001270	Motor delay
OMIM:613027	PHKG2	5261	HP:0001510	Growth delay
OMIM:254800	CSTB	1476	HP:0001251	Ataxia
OMIM:254800	CSTB	1476	HP:0001260	Dysarthria
OMIM:254800	CSTB	1476	HP:0001268	Mental deterioration
OMIM:254800	CSTB	1476	HP:0000007	Autosomal recessive inheritance
OMIM:254800	CSTB	1476	HP:0002121	Absence seizures
OMIM:254800	CSTB	1476	HP:0001336	Myoclonus
OMIM:254800	CSTB	1476	HP:0002069	Generalized tonic-clonic seizures
OMIM:611719	MRPS22	56945	HP:0000278	Retrognathia
OMIM:611719	MRPS22	56945	HP:0001250	Seizures
OMIM:611719	MRPS22	56945	HP:0000969	Edema
OMIM:611719	MRPS22	56945	HP:0002510	Spastic tetraplegia
OMIM:611719	MRPS22	56945	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611719	MRPS22	56945	HP:0001522	Death in infancy
OMIM:611719	MRPS22	56945	HP:0001541	Ascites
OMIM:611719	MRPS22	56945	HP:0002352	Leukoencephalopathy
OMIM:611719	MRPS22	56945	HP:0000252	Microcephaly
OMIM:611719	MRPS22	56945	HP:0001290	Generalized hypotonia
OMIM:611719	MRPS22	56945	HP:0008936	Muscular hypotonia of the trunk
OMIM:611719	MRPS22	56945	HP:0003577	Congenital onset
OMIM:611719	MRPS22	56945	HP:0005989	Redundant neck skin
OMIM:611719	MRPS22	56945	HP:0001942	Metabolic acidosis
OMIM:611719	MRPS22	56945	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611719	MRPS22	56945	HP:0030674	Antenatal onset
OMIM:611719	MRPS22	56945	HP:0001560	Abnormality of the amniotic fluid
OMIM:611719	MRPS22	56945	HP:0012448	Delayed myelination
OMIM:611719	MRPS22	56945	HP:0000369	Low-set ears
OMIM:611719	MRPS22	56945	HP:0002151	Increased serum lactate
OMIM:611719	MRPS22	56945	HP:0000358	Posteriorly rotated ears
OMIM:611719	MRPS22	56945	HP:0001510	Growth delay
OMIM:611719	MRPS22	56945	HP:0000007	Autosomal recessive inheritance
OMIM:611719	MRPS22	56945	HP:0000091	Abnormality of the renal tubule
OMIM:137760	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:137760	OPTN	10133	HP:0000545	Myopia
OMIM:137760	OPTN	10133	HP:0012108	Open angle glaucoma
ORPHA:1145	UBA1	7317	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1145	UBA1	7317	HP:0000347	Micrognathia
ORPHA:1145	UBA1	7317	HP:0100543	Cognitive impairment
ORPHA:1145	UBA1	7317	HP:0000470	Short neck
ORPHA:1145	UBA1	7317	HP:0001252	Muscular hypotonia
ORPHA:1145	UBA1	7317	HP:0002650	Scoliosis
ORPHA:1145	UBA1	7317	HP:0001387	Joint stiffness
ORPHA:1145	UBA1	7317	HP:0009623	Proximal placement of thumb
ORPHA:1145	UBA1	7317	HP:0001181	Adducted thumb
ORPHA:1145	UBA1	7317	HP:0001531	Failure to thrive in infancy
ORPHA:1145	UBA1	7317	HP:0000028	Cryptorchidism
ORPHA:1145	UBA1	7317	HP:0000268	Dolichocephaly
ORPHA:1145	UBA1	7317	HP:0000431	Wide nasal bridge
ORPHA:1145	UBA1	7317	HP:0000343	Long philtrum
ORPHA:1145	UBA1	7317	HP:0100490	Camptodactyly of finger
ORPHA:1145	UBA1	7317	HP:0000774	Narrow chest
ORPHA:1145	UBA1	7317	HP:0003196	Short nose
ORPHA:1145	UBA1	7317	HP:0002808	Kyphosis
ORPHA:1145	UBA1	7317	HP:0001288	Gait disturbance
OMIM:613563	CBL	867	HP:0000358	Posteriorly rotated ears
OMIM:613563	CBL	867	HP:0002002	Deep philtrum
OMIM:613563	CBL	867	HP:0001653	Mitral regurgitation
OMIM:613563	CBL	867	HP:0001382	Joint hypermobility
OMIM:613563	CBL	867	HP:0000957	Cafe-au-lait spot
OMIM:613563	CBL	867	HP:0000316	Hypertelorism
OMIM:613563	CBL	867	HP:0000465	Webbed neck
OMIM:613563	CBL	867	HP:0000006	Autosomal dominant inheritance
OMIM:613563	CBL	867	HP:0000325	Triangular face
OMIM:613563	CBL	867	HP:0000750	Delayed speech and language development
OMIM:613563	CBL	867	HP:0006610	Wide intermamillary distance
OMIM:613563	CBL	867	HP:0000494	Downslanted palpebral fissures
OMIM:613563	CBL	867	HP:0001263	Global developmental delay
OMIM:613563	CBL	867	HP:0001650	Aortic valve stenosis
OMIM:613563	CBL	867	HP:0005280	Depressed nasal bridge
OMIM:613563	CBL	867	HP:0008070	Sparse hair
OMIM:613563	CBL	867	HP:0000470	Short neck
OMIM:613563	CBL	867	HP:0001647	Bicuspid aortic valve
OMIM:613563	CBL	867	HP:0002967	Cubitus valgus
OMIM:613563	CBL	867	HP:0012471	Thick vermilion border
OMIM:613563	CBL	867	HP:0000400	Macrotia
OMIM:613563	CBL	867	HP:0000286	Epicanthus
OMIM:613563	CBL	867	HP:0001290	Generalized hypotonia
OMIM:613563	CBL	867	HP:0001388	Joint laxity
OMIM:613563	CBL	867	HP:0002213	Fine hair
OMIM:613563	CBL	867	HP:0003812	Phenotypic variability
OMIM:613563	CBL	867	HP:0000508	Ptosis
OMIM:613563	CBL	867	HP:0002007	Frontal bossing
OMIM:613563	CBL	867	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:613563	CBL	867	HP:0000369	Low-set ears
OMIM:613563	CBL	867	HP:0000028	Cryptorchidism
OMIM:613563	CBL	867	HP:0000343	Long philtrum
OMIM:613563	CBL	867	HP:0000767	Pectus excavatum
OMIM:610687	CFL2	1073	HP:0000007	Autosomal recessive inheritance
OMIM:610687	CFL2	1073	HP:0003789	Minicore myopathy
OMIM:610687	CFL2	1073	HP:0001382	Joint hypermobility
OMIM:610687	CFL2	1073	HP:0003391	Gowers sign
OMIM:610687	CFL2	1073	HP:0001288	Gait disturbance
OMIM:610687	CFL2	1073	HP:0001284	Areflexia
OMIM:610687	CFL2	1073	HP:0001252	Muscular hypotonia
OMIM:610687	CFL2	1073	HP:0001290	Generalized hypotonia
OMIM:610687	CFL2	1073	HP:0003798	Nemaline bodies
OMIM:610687	CFL2	1073	HP:0000467	Neck muscle weakness
OMIM:610687	CFL2	1073	HP:0002194	Delayed gross motor development
OMIM:610687	CFL2	1073	HP:0000218	High palate
OMIM:610687	CFL2	1073	HP:0003677	Slow progression
OMIM:610687	CFL2	1073	HP:0001324	Muscle weakness
OMIM:121200	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:121200	KCNQ2	3785	HP:0001425	Heterogeneous
OMIM:121200	KCNQ2	3785	HP:0002266	Focal clonic seizures
OMIM:121200	KCNQ2	3785	HP:0002411	Myokymia
OMIM:121200	KCNQ2	3785	HP:0003623	Neonatal onset
OMIM:121200	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:121200	KCNQ2	3785	HP:0003812	Phenotypic variability
OMIM:158901	SMCHD1	23347	HP:0010984	Digenic inheritance
OMIM:158901	SMCHD1	23347	HP:0010628	Facial palsy
OMIM:158901	SMCHD1	23347	HP:0009027	Foot dorsiflexor weakness
OMIM:158901	SMCHD1	23347	HP:0030664	Beevor's sign
OMIM:158901	SMCHD1	23347	HP:0003749	Pelvic girdle muscle weakness
OMIM:158901	SMCHD1	23347	HP:0008970	Scapulohumeral muscular dystrophy
OMIM:104310	APOE	348	HP:0000726	Dementia
OMIM:104310	APOE	348	HP:0002511	Alzheimer disease
OMIM:104310	APOE	348	HP:0003584	Late onset
OMIM:104310	APOE	348	HP:0002185	Neurofibrillary tangles
OMIM:104310	APOE	348	HP:0002423	Long-tract signs
OMIM:104310	APOE	348	HP:0001300	Parkinsonism
OMIM:612712	RDH12	145226	HP:0000556	Retinal dystrophy
OMIM:612712	RDH12	145226	HP:0000007	Autosomal recessive inheritance
ORPHA:950	PRKAR1A	5573	HP:0001831	Short toe
ORPHA:950	PRKAR1A	5573	HP:0000431	Wide nasal bridge
ORPHA:950	PRKAR1A	5573	HP:0003196	Short nose
ORPHA:950	PRKAR1A	5573	HP:0011800	Midface retrusion
ORPHA:950	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
ORPHA:950	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
ORPHA:950	PRKAR1A	5573	HP:0002984	Hypoplasia of the radius
ORPHA:950	PRKAR1A	5573	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:950	PRKAR1A	5573	HP:0000316	Hypertelorism
ORPHA:950	PRKAR1A	5573	HP:0000684	Delayed eruption of teeth
ORPHA:950	PRKAR1A	5573	HP:0010978	Abnormality of immune system physiology
ORPHA:950	PRKAR1A	5573	HP:0000028	Cryptorchidism
ORPHA:950	PRKAR1A	5573	HP:0000194	Open mouth
ORPHA:950	PRKAR1A	5573	HP:0010743	Short metatarsal
ORPHA:950	PRKAR1A	5573	HP:0000365	Hearing impairment
ORPHA:950	PRKAR1A	5573	HP:0000457	Depressed nasal ridge
ORPHA:950	PRKAR1A	5573	HP:0001156	Brachydactyly
ORPHA:950	PRKAR1A	5573	HP:0000248	Brachycephaly
ORPHA:950	PRKAR1A	5573	HP:0003022	Hypoplasia of the ulna
ORPHA:950	PRKAR1A	5573	HP:0010049	Short metacarpal
ORPHA:950	PRKAR1A	5573	HP:0010655	Epiphyseal stippling
ORPHA:950	PRKAR1A	5573	HP:0001249	Intellectual disability
ORPHA:950	PRKAR1A	5573	HP:0000327	Hypoplasia of the maxilla
ORPHA:950	PRKAR1A	5573	HP:0010579	Cone-shaped epiphysis
ORPHA:950	PRKAR1A	5573	HP:0000463	Anteverted nares
ORPHA:950	PRKAR1A	5573	HP:0001597	Abnormality of the nail
ORPHA:950	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
ORPHA:950	PRKAR1A	5573	HP:0009830	Peripheral neuropathy
ORPHA:950	PRKAR1A	5573	HP:0000303	Mandibular prognathia
ORPHA:950	PRKAR1A	5573	HP:0000055	Abnormality of female external genitalia
ORPHA:950	PRKAR1A	5573	HP:0004322	Short stature
ORPHA:950	PRKAR1A	5573	HP:0002983	Micromelia
ORPHA:950	PDE4D	5144	HP:0001831	Short toe
ORPHA:950	PDE4D	5144	HP:0000431	Wide nasal bridge
ORPHA:950	PDE4D	5144	HP:0003196	Short nose
ORPHA:950	PDE4D	5144	HP:0011800	Midface retrusion
ORPHA:950	PDE4D	5144	HP:0003416	Spinal canal stenosis
ORPHA:950	PDE4D	5144	HP:0005280	Depressed nasal bridge
ORPHA:950	PDE4D	5144	HP:0002984	Hypoplasia of the radius
ORPHA:950	PDE4D	5144	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:950	PDE4D	5144	HP:0000316	Hypertelorism
ORPHA:950	PDE4D	5144	HP:0000684	Delayed eruption of teeth
ORPHA:950	PDE4D	5144	HP:0010978	Abnormality of immune system physiology
ORPHA:950	PDE4D	5144	HP:0000028	Cryptorchidism
ORPHA:950	PDE4D	5144	HP:0000194	Open mouth
ORPHA:950	PDE4D	5144	HP:0010743	Short metatarsal
ORPHA:950	PDE4D	5144	HP:0000365	Hearing impairment
ORPHA:950	PDE4D	5144	HP:0000457	Depressed nasal ridge
ORPHA:950	PDE4D	5144	HP:0001156	Brachydactyly
ORPHA:950	PDE4D	5144	HP:0000248	Brachycephaly
ORPHA:950	PDE4D	5144	HP:0003022	Hypoplasia of the ulna
ORPHA:950	PDE4D	5144	HP:0010049	Short metacarpal
ORPHA:950	PDE4D	5144	HP:0010655	Epiphyseal stippling
ORPHA:950	PDE4D	5144	HP:0001249	Intellectual disability
ORPHA:950	PDE4D	5144	HP:0000327	Hypoplasia of the maxilla
ORPHA:950	PDE4D	5144	HP:0010579	Cone-shaped epiphysis
ORPHA:950	PDE4D	5144	HP:0000463	Anteverted nares
ORPHA:950	PDE4D	5144	HP:0001597	Abnormality of the nail
ORPHA:950	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
ORPHA:950	PDE4D	5144	HP:0009830	Peripheral neuropathy
ORPHA:950	PDE4D	5144	HP:0000303	Mandibular prognathia
ORPHA:950	PDE4D	5144	HP:0000055	Abnormality of female external genitalia
ORPHA:950	PDE4D	5144	HP:0004322	Short stature
ORPHA:950	PDE4D	5144	HP:0002983	Micromelia
OMIM:146510	GLI3	2737	HP:0000028	Cryptorchidism
OMIM:146510	GLI3	2737	HP:0008706	Distal urethral duplication
OMIM:146510	GLI3	2737	HP:0010112	Mesoaxial foot polydactyly
OMIM:146510	GLI3	2737	HP:0000054	Micropenis
OMIM:146510	GLI3	2737	HP:0000086	Ectopic kidney
OMIM:146510	GLI3	2737	HP:0000089	Renal hypoplasia
OMIM:146510	GLI3	2737	HP:0000126	Hydronephrosis
OMIM:146510	GLI3	2737	HP:0008163	Decreased circulating cortisol level
OMIM:146510	GLI3	2737	HP:0006402	Distal shortening of limbs
OMIM:146510	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:146510	GLI3	2737	HP:0008188	Thyroid dysgenesis
OMIM:146510	GLI3	2737	HP:0000826	Precocious puberty
OMIM:146510	GLI3	2737	HP:0001511	Intrauterine growth retardation
OMIM:146510	GLI3	2737	HP:0008751	Laryngeal cleft
OMIM:146510	GLI3	2737	HP:0001629	Ventricular septal defect
OMIM:146510	GLI3	2737	HP:0000824	Growth hormone deficiency
OMIM:146510	GLI3	2737	HP:0003811	Neonatal death
OMIM:146510	GLI3	2737	HP:0004322	Short stature
OMIM:146510	GLI3	2737	HP:0003196	Short nose
OMIM:146510	GLI3	2737	HP:0003828	Variable expressivity
OMIM:146510	GLI3	2737	HP:0005151	Preductal coarctation of the aorta
OMIM:146510	GLI3	2737	HP:0008734	Decreased testicular size
OMIM:146510	GLI3	2737	HP:0001830	Postaxial foot polydactyly
OMIM:146510	GLI3	2737	HP:0001250	Seizures
OMIM:146510	GLI3	2737	HP:0002164	Nail dysplasia
OMIM:146510	GLI3	2737	HP:0005349	Hypoplasia of the epiglottis
OMIM:146510	GLI3	2737	HP:0001360	Holoprosencephaly
OMIM:146510	GLI3	2737	HP:0003048	Radial head subluxation
OMIM:146510	GLI3	2737	HP:0002827	Hip dislocation
OMIM:146510	GLI3	2737	HP:0002101	Abnormal lung lobation
OMIM:146510	GLI3	2737	HP:0000107	Renal cyst
OMIM:146510	GLI3	2737	HP:0000871	Panhypopituitarism
OMIM:146510	GLI3	2737	HP:0000110	Renal dysplasia
OMIM:146510	GLI3	2737	HP:0000072	Hydroureter
OMIM:146510	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:146510	GLI3	2737	HP:0006159	Mesoaxial hand polydactyly
OMIM:146510	GLI3	2737	HP:0010564	Bifid epiglottis
OMIM:146510	GLI3	2737	HP:0002023	Anal atresia
OMIM:616881	HIKESHI	51501	HP:0000639	Nystagmus
OMIM:616881	HIKESHI	51501	HP:0001508	Failure to thrive
OMIM:616881	HIKESHI	51501	HP:0011968	Feeding difficulties
OMIM:616881	HIKESHI	51501	HP:0001371	Flexion contracture
OMIM:616881	HIKESHI	51501	HP:0003593	Infantile onset
OMIM:616881	HIKESHI	51501	HP:0012448	Delayed myelination
OMIM:616881	HIKESHI	51501	HP:0002518	Abnormality of the periventricular white matter
OMIM:616881	HIKESHI	51501	HP:0001257	Spasticity
OMIM:616881	HIKESHI	51501	HP:0001290	Generalized hypotonia
OMIM:616881	HIKESHI	51501	HP:0000007	Autosomal recessive inheritance
OMIM:616881	HIKESHI	51501	HP:0001263	Global developmental delay
OMIM:616881	HIKESHI	51501	HP:0002169	Clonus
OMIM:617272	TEK	7010	HP:0000006	Autosomal dominant inheritance
OMIM:617272	TEK	7010	HP:0000485	Megalocornea
OMIM:100100	CHRM3	1131	HP:0001627	Abnormal heart morphology
OMIM:100100	CHRM3	1131	HP:0004392	Prune belly
OMIM:100100	CHRM3	1131	HP:0000072	Hydroureter
OMIM:100100	CHRM3	1131	HP:0001374	Congenital hip dislocation
OMIM:100100	CHRM3	1131	HP:0001762	Talipes equinovarus
OMIM:100100	CHRM3	1131	HP:0000767	Pectus excavatum
OMIM:100100	CHRM3	1131	HP:0001562	Oligohydramnios
OMIM:100100	CHRM3	1131	HP:0000126	Hydronephrosis
OMIM:100100	CHRM3	1131	HP:0000007	Autosomal recessive inheritance
OMIM:100100	CHRM3	1131	HP:0000951	Abnormality of the skin
OMIM:100100	CHRM3	1131	HP:0000217	Xerostomia
OMIM:100100	CHRM3	1131	HP:0000768	Pectus carinatum
OMIM:100100	CHRM3	1131	HP:0005199	Aplasia of the abdominal wall musculature
OMIM:100100	CHRM3	1131	HP:0000028	Cryptorchidism
OMIM:100100	CHRM3	1131	HP:0010957	Congenital posterior urethral valve
OMIM:100100	CHRM3	1131	HP:0001643	Patent ductus arteriosus
OMIM:100100	CHRM3	1131	HP:0002023	Anal atresia
ORPHA:95	FXN	2395	HP:0002141	Gait imbalance
ORPHA:95	FXN	2395	HP:0002527	Falls
ORPHA:95	FXN	2395	HP:0000648	Optic atrophy
ORPHA:95	FXN	2395	HP:0002650	Scoliosis
ORPHA:95	FXN	2395	HP:0001761	Pes cavus
ORPHA:95	FXN	2395	HP:0002522	Areflexia of lower limbs
ORPHA:95	FXN	2395	HP:0003390	Sensory axonal neuropathy
ORPHA:95	FXN	2395	HP:0002070	Limb ataxia
ORPHA:95	FXN	2395	HP:0001260	Dysarthria
ORPHA:95	FXN	2395	HP:0002839	Urinary bladder sphincter dysfunction
ORPHA:95	FXN	2395	HP:0009130	Hand muscle atrophy
ORPHA:95	FXN	2395	HP:0010873	Cervical spinal cord atrophy
ORPHA:95	FXN	2395	HP:0002066	Gait ataxia
ORPHA:95	FXN	2395	HP:0001638	Cardiomyopathy
ORPHA:95	FXN	2395	HP:0001324	Muscle weakness
ORPHA:95	FXN	2395	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex
ORPHA:95	FXN	2395	HP:0007010	Poor fine motor coordination
ORPHA:95	FXN	2395	HP:0001310	Dysmetria
ORPHA:95	FXN	2395	HP:0000639	Nystagmus
ORPHA:95	FXN	2395	HP:0002080	Intention tremor
ORPHA:95	FXN	2395	HP:0010831	Impaired proprioception
ORPHA:95	FXN	2395	HP:0003487	Babinski sign
OMIM:601144	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:601144	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:601144	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SCN5A	6331	HP:0001699	Sudden death
ORPHA:440354	COL11A1	1301	HP:0000882	Hypoplastic scapulae
ORPHA:440354	COL11A1	1301	HP:0000947	Dumbbell-shaped long bone
ORPHA:440354	COL11A1	1301	HP:0002007	Frontal bossing
ORPHA:440354	COL11A1	1301	HP:0001156	Brachydactyly
ORPHA:440354	COL11A1	1301	HP:0001622	Premature birth
ORPHA:440354	COL11A1	1301	HP:0002781	Upper airway obstruction
ORPHA:440354	COL11A1	1301	HP:0002983	Micromelia
ORPHA:440354	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
ORPHA:440354	COL11A1	1301	HP:0000774	Narrow chest
ORPHA:440354	COL11A1	1301	HP:0002980	Femoral bowing
ORPHA:440354	COL11A1	1301	HP:0011003	Severe Myopia
ORPHA:440354	COL11A1	1301	HP:0000347	Micrognathia
ORPHA:440354	COL11A1	1301	HP:0003097	Short femur
ORPHA:440354	COL11A1	1301	HP:0000162	Glossoptosis
ORPHA:440354	COL11A1	1301	HP:0000520	Proptosis
ORPHA:440354	COL11A1	1301	HP:0008905	Rhizomelia
ORPHA:440354	COL11A1	1301	HP:0000175	Cleft palate
ORPHA:440354	COL11A1	1301	HP:0011800	Midface retrusion
OMIM:607598	ERBB3	2065	HP:0000007	Autosomal recessive inheritance
OMIM:607598	ERBB3	2065	HP:0000126	Hydronephrosis
OMIM:607598	ERBB3	2065	HP:0001558	Decreased fetal movement
OMIM:607598	ERBB3	2065	HP:0000969	Edema
OMIM:607598	ERBB3	2065	HP:0003202	Skeletal muscle atrophy
OMIM:607598	ERBB3	2065	HP:0002304	Akinesia
OMIM:607598	ERBB3	2065	HP:0011003	Severe Myopia
OMIM:607598	ERBB3	2065	HP:0001561	Polyhydramnios
OMIM:607598	ERBB3	2065	HP:0002878	Respiratory failure
OMIM:607598	ERBB3	2065	HP:0000347	Micrognathia
OMIM:607598	ERBB3	2065	HP:0002804	Arthrogryposis multiplex congenita
OMIM:607598	ERBB3	2065	HP:0007964	Degenerative vitreoretinopathy
OMIM:612691	FIG4	9896	HP:0002126	Polymicrogyria
OMIM:612691	FIG4	9896	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:612691	FIG4	9896	HP:0003828	Variable expressivity
OMIM:612691	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:612691	FIG4	9896	HP:0002367	Visual hallucinations
OMIM:612691	FIG4	9896	HP:0002133	Status epilepticus
OMIM:612691	FIG4	9896	HP:0000718	Aggressive behavior
OMIM:612691	FIG4	9896	HP:0002119	Ventriculomegaly
OMIM:614369	MYH14	79784	HP:0001284	Areflexia
OMIM:614369	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:614369	MYH14	79784	HP:0001324	Muscle weakness
OMIM:614369	MYH14	79784	HP:0001337	Tremor
OMIM:614369	MYH14	79784	HP:0009830	Peripheral neuropathy
OMIM:614369	MYH14	79784	HP:0001760	Abnormality of the foot
OMIM:614369	MYH14	79784	HP:0002460	Distal muscle weakness
OMIM:614369	MYH14	79784	HP:0001265	Hyporeflexia
OMIM:614369	MYH14	79784	HP:0003676	Progressive
OMIM:614369	MYH14	79784	HP:0003202	Skeletal muscle atrophy
OMIM:614369	MYH14	79784	HP:0003693	Distal amyotrophy
OMIM:614369	MYH14	79784	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:99885	ABCC8	6833	HP:0003076	Glycosuria
ORPHA:99885	ABCC8	6833	HP:0001270	Motor delay
ORPHA:99885	ABCC8	6833	HP:0001824	Weight loss
ORPHA:99885	ABCC8	6833	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	ABCC8	6833	HP:0000488	Retinopathy
ORPHA:99885	ABCC8	6833	HP:0001944	Dehydration
ORPHA:99885	ABCC8	6833	HP:0002919	Ketonuria
ORPHA:99885	ABCC8	6833	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	ABCC8	6833	HP:0001508	Failure to thrive
ORPHA:99885	ABCC8	6833	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	ABCC8	6833	HP:0011106	Hypovolemia
ORPHA:99885	ABCC8	6833	HP:0001511	Intrauterine growth retardation
ORPHA:99885	ABCC8	6833	HP:0003074	Hyperglycemia
ORPHA:99885	ABCC8	6833	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	ABCC8	6833	HP:0001263	Global developmental delay
ORPHA:99885	ABCC8	6833	HP:0001488	Bilateral ptosis
ORPHA:99885	ABCC8	6833	HP:0001627	Abnormal heart morphology
ORPHA:99885	ABCC8	6833	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	ABCC8	6833	HP:0005487	Prominent metopic ridge
ORPHA:99885	ABCC8	6833	HP:0012594	Microalbuminuria
ORPHA:99885	ABCC8	6833	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	ABCC8	6833	HP:0002714	Downturned corners of mouth
ORPHA:99885	PDX1	3651	HP:0003076	Glycosuria
ORPHA:99885	PDX1	3651	HP:0001270	Motor delay
ORPHA:99885	PDX1	3651	HP:0001824	Weight loss
ORPHA:99885	PDX1	3651	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	PDX1	3651	HP:0000488	Retinopathy
ORPHA:99885	PDX1	3651	HP:0001944	Dehydration
ORPHA:99885	PDX1	3651	HP:0002919	Ketonuria
ORPHA:99885	PDX1	3651	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	PDX1	3651	HP:0001508	Failure to thrive
ORPHA:99885	PDX1	3651	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	PDX1	3651	HP:0011106	Hypovolemia
ORPHA:99885	PDX1	3651	HP:0001511	Intrauterine growth retardation
ORPHA:99885	PDX1	3651	HP:0003074	Hyperglycemia
ORPHA:99885	PDX1	3651	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	PDX1	3651	HP:0001263	Global developmental delay
ORPHA:99885	PDX1	3651	HP:0001488	Bilateral ptosis
ORPHA:99885	PDX1	3651	HP:0001627	Abnormal heart morphology
ORPHA:99885	PDX1	3651	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	PDX1	3651	HP:0005487	Prominent metopic ridge
ORPHA:99885	PDX1	3651	HP:0012594	Microalbuminuria
ORPHA:99885	PDX1	3651	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	PDX1	3651	HP:0002714	Downturned corners of mouth
ORPHA:99885	GCK	2645	HP:0003076	Glycosuria
ORPHA:99885	GCK	2645	HP:0001270	Motor delay
ORPHA:99885	GCK	2645	HP:0001824	Weight loss
ORPHA:99885	GCK	2645	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	GCK	2645	HP:0000488	Retinopathy
ORPHA:99885	GCK	2645	HP:0001944	Dehydration
ORPHA:99885	GCK	2645	HP:0002919	Ketonuria
ORPHA:99885	GCK	2645	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	GCK	2645	HP:0001508	Failure to thrive
ORPHA:99885	GCK	2645	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	GCK	2645	HP:0011106	Hypovolemia
ORPHA:99885	GCK	2645	HP:0001511	Intrauterine growth retardation
ORPHA:99885	GCK	2645	HP:0003074	Hyperglycemia
ORPHA:99885	GCK	2645	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	GCK	2645	HP:0001263	Global developmental delay
ORPHA:99885	GCK	2645	HP:0001488	Bilateral ptosis
ORPHA:99885	GCK	2645	HP:0001627	Abnormal heart morphology
ORPHA:99885	GCK	2645	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	GCK	2645	HP:0005487	Prominent metopic ridge
ORPHA:99885	GCK	2645	HP:0012594	Microalbuminuria
ORPHA:99885	GCK	2645	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	GCK	2645	HP:0002714	Downturned corners of mouth
ORPHA:99885	STAT3	6774	HP:0003076	Glycosuria
ORPHA:99885	STAT3	6774	HP:0001270	Motor delay
ORPHA:99885	STAT3	6774	HP:0001824	Weight loss
ORPHA:99885	STAT3	6774	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	STAT3	6774	HP:0000488	Retinopathy
ORPHA:99885	STAT3	6774	HP:0001944	Dehydration
ORPHA:99885	STAT3	6774	HP:0002919	Ketonuria
ORPHA:99885	STAT3	6774	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	STAT3	6774	HP:0001508	Failure to thrive
ORPHA:99885	STAT3	6774	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	STAT3	6774	HP:0011106	Hypovolemia
ORPHA:99885	STAT3	6774	HP:0001511	Intrauterine growth retardation
ORPHA:99885	STAT3	6774	HP:0003074	Hyperglycemia
ORPHA:99885	STAT3	6774	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	STAT3	6774	HP:0001263	Global developmental delay
ORPHA:99885	STAT3	6774	HP:0001488	Bilateral ptosis
ORPHA:99885	STAT3	6774	HP:0001627	Abnormal heart morphology
ORPHA:99885	STAT3	6774	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	STAT3	6774	HP:0005487	Prominent metopic ridge
ORPHA:99885	STAT3	6774	HP:0012594	Microalbuminuria
ORPHA:99885	STAT3	6774	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	STAT3	6774	HP:0002714	Downturned corners of mouth
ORPHA:99885	KCNJ11	3767	HP:0003076	Glycosuria
ORPHA:99885	KCNJ11	3767	HP:0001270	Motor delay
ORPHA:99885	KCNJ11	3767	HP:0001824	Weight loss
ORPHA:99885	KCNJ11	3767	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	KCNJ11	3767	HP:0000488	Retinopathy
ORPHA:99885	KCNJ11	3767	HP:0001944	Dehydration
ORPHA:99885	KCNJ11	3767	HP:0002919	Ketonuria
ORPHA:99885	KCNJ11	3767	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	KCNJ11	3767	HP:0001508	Failure to thrive
ORPHA:99885	KCNJ11	3767	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	KCNJ11	3767	HP:0011106	Hypovolemia
ORPHA:99885	KCNJ11	3767	HP:0001511	Intrauterine growth retardation
ORPHA:99885	KCNJ11	3767	HP:0003074	Hyperglycemia
ORPHA:99885	KCNJ11	3767	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	KCNJ11	3767	HP:0001263	Global developmental delay
ORPHA:99885	KCNJ11	3767	HP:0001488	Bilateral ptosis
ORPHA:99885	KCNJ11	3767	HP:0001627	Abnormal heart morphology
ORPHA:99885	KCNJ11	3767	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	KCNJ11	3767	HP:0005487	Prominent metopic ridge
ORPHA:99885	KCNJ11	3767	HP:0012594	Microalbuminuria
ORPHA:99885	KCNJ11	3767	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	KCNJ11	3767	HP:0002714	Downturned corners of mouth
ORPHA:99885	INS	3630	HP:0003076	Glycosuria
ORPHA:99885	INS	3630	HP:0001270	Motor delay
ORPHA:99885	INS	3630	HP:0001824	Weight loss
ORPHA:99885	INS	3630	HP:0006274	Reduced pancreatic beta cells
ORPHA:99885	INS	3630	HP:0000488	Retinopathy
ORPHA:99885	INS	3630	HP:0001944	Dehydration
ORPHA:99885	INS	3630	HP:0002919	Ketonuria
ORPHA:99885	INS	3630	HP:0002123	Generalized myoclonic seizures
ORPHA:99885	INS	3630	HP:0001508	Failure to thrive
ORPHA:99885	INS	3630	HP:0005750	Contractures of the joints of the lower limbs
ORPHA:99885	INS	3630	HP:0011106	Hypovolemia
ORPHA:99885	INS	3630	HP:0001511	Intrauterine growth retardation
ORPHA:99885	INS	3630	HP:0003074	Hyperglycemia
ORPHA:99885	INS	3630	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:99885	INS	3630	HP:0001263	Global developmental delay
ORPHA:99885	INS	3630	HP:0001488	Bilateral ptosis
ORPHA:99885	INS	3630	HP:0001627	Abnormal heart morphology
ORPHA:99885	INS	3630	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:99885	INS	3630	HP:0005487	Prominent metopic ridge
ORPHA:99885	INS	3630	HP:0012594	Microalbuminuria
ORPHA:99885	INS	3630	HP:0002069	Generalized tonic-clonic seizures
ORPHA:99885	INS	3630	HP:0002714	Downturned corners of mouth
OMIM:271700	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:271700	COL2A1	1280	HP:0003180	Flat acetabular roof
OMIM:271700	COL2A1	1280	HP:0003370	Flat capital femoral epiphysis
OMIM:271700	COL2A1	1280	HP:0004227	Short distal phalanx of the 5th finger
OMIM:271700	COL2A1	1280	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:271700	COL2A1	1280	HP:0009778	Short thumb
OMIM:271700	COL2A1	1280	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:271700	COL2A1	1280	HP:0009882	Short distal phalanx of finger
OMIM:271700	COL2A1	1280	HP:0004322	Short stature
OMIM:271700	COL2A1	1280	HP:0001169	Broad palm
OMIM:271700	COL2A1	1280	HP:0011800	Midface retrusion
OMIM:271700	COL2A1	1280	HP:0001831	Short toe
OMIM:271700	COL2A1	1280	HP:0001773	Short foot
OMIM:271700	COL2A1	1280	HP:0005068	Absent styloid process of ulna
OMIM:271700	COL2A1	1280	HP:0003022	Hypoplasia of the ulna
OMIM:271700	COL2A1	1280	HP:0000272	Malar flattening
OMIM:271700	COL2A1	1280	HP:0009566	Short distal phalanx of the 2nd finger
OMIM:271700	COL2A1	1280	HP:0010454	Acetabular spurs
OMIM:271700	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:271700	COL2A1	1280	HP:0010743	Short metatarsal
OMIM:271700	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:271700	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:271700	COL2A1	1280	HP:0004180	Short distal phalanx of the 3rd finger
OMIM:271700	COL2A1	1280	HP:0009290	Short distal phalanx of the 4th finger
OMIM:271700	COL2A1	1280	HP:0002808	Kyphosis
OMIM:271700	COL2A1	1280	HP:0006144	Shortening of all proximal phalanges of the fingers
OMIM:271700	COL2A1	1280	HP:0000339	Pugilistic facies
OMIM:271700	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:271700	COL2A1	1280	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:271700	COL2A1	1280	HP:0001377	Limited elbow extension
OMIM:271700	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:271700	COL2A1	1280	HP:0011304	Broad thumb
OMIM:209920	RFXANK	8625	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFXANK	8625	HP:0004432	Agammaglobulinemia
OMIM:209920	RFXANK	8625	HP:0002583	Colitis
OMIM:209920	RFXANK	8625	HP:0006562	Viral hepatitis
OMIM:209920	RFXANK	8625	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFXANK	8625	HP:0002024	Malabsorption
OMIM:209920	RFXANK	8625	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFXANK	8625	HP:0004385	Protracted diarrhea
OMIM:209920	RFXANK	8625	HP:0001875	Neutropenia
OMIM:209920	RFXANK	8625	HP:0002965	Cutaneous anergy
OMIM:209920	RFXANK	8625	HP:0002841	Recurrent fungal infections
OMIM:209920	RFXANK	8625	HP:0011473	Villous atrophy
OMIM:209920	RFXANK	8625	HP:0001080	Biliary tract abnormality
OMIM:209920	RFXANK	8625	HP:0002383	Encephalitis
OMIM:209920	RFXANK	8625	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFXANK	8625	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFXANK	8625	HP:0001508	Failure to thrive
OMIM:209920	RFXANK	8625	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFXANK	8625	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFXANK	8625	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFXANK	8625	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFXANK	8625	HP:0004429	Recurrent viral infections
OMIM:209920	RFXANK	8625	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	CIITA	4261	HP:0002718	Recurrent bacterial infections
OMIM:209920	CIITA	4261	HP:0004432	Agammaglobulinemia
OMIM:209920	CIITA	4261	HP:0002583	Colitis
OMIM:209920	CIITA	4261	HP:0006562	Viral hepatitis
OMIM:209920	CIITA	4261	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	CIITA	4261	HP:0002024	Malabsorption
OMIM:209920	CIITA	4261	HP:0000007	Autosomal recessive inheritance
OMIM:209920	CIITA	4261	HP:0004385	Protracted diarrhea
OMIM:209920	CIITA	4261	HP:0001875	Neutropenia
OMIM:209920	CIITA	4261	HP:0002965	Cutaneous anergy
OMIM:209920	CIITA	4261	HP:0002841	Recurrent fungal infections
OMIM:209920	CIITA	4261	HP:0011473	Villous atrophy
OMIM:209920	CIITA	4261	HP:0001080	Biliary tract abnormality
OMIM:209920	CIITA	4261	HP:0002383	Encephalitis
OMIM:209920	CIITA	4261	HP:0005386	Recurrent protozoan infections
OMIM:209920	CIITA	4261	HP:0000006	Autosomal dominant inheritance
OMIM:209920	CIITA	4261	HP:0001508	Failure to thrive
OMIM:209920	CIITA	4261	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	CIITA	4261	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	CIITA	4261	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	CIITA	4261	HP:0000010	Recurrent urinary tract infections
OMIM:209920	CIITA	4261	HP:0004429	Recurrent viral infections
OMIM:209920	CIITA	4261	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	RFX5	5993	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFX5	5993	HP:0004432	Agammaglobulinemia
OMIM:209920	RFX5	5993	HP:0002583	Colitis
OMIM:209920	RFX5	5993	HP:0006562	Viral hepatitis
OMIM:209920	RFX5	5993	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFX5	5993	HP:0002024	Malabsorption
OMIM:209920	RFX5	5993	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFX5	5993	HP:0004385	Protracted diarrhea
OMIM:209920	RFX5	5993	HP:0001875	Neutropenia
OMIM:209920	RFX5	5993	HP:0002965	Cutaneous anergy
OMIM:209920	RFX5	5993	HP:0002841	Recurrent fungal infections
OMIM:209920	RFX5	5993	HP:0011473	Villous atrophy
OMIM:209920	RFX5	5993	HP:0001080	Biliary tract abnormality
OMIM:209920	RFX5	5993	HP:0002383	Encephalitis
OMIM:209920	RFX5	5993	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFX5	5993	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFX5	5993	HP:0001508	Failure to thrive
OMIM:209920	RFX5	5993	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFX5	5993	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFX5	5993	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFX5	5993	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFX5	5993	HP:0004429	Recurrent viral infections
OMIM:209920	RFX5	5993	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	RFXAP	5994	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFXAP	5994	HP:0004432	Agammaglobulinemia
OMIM:209920	RFXAP	5994	HP:0002583	Colitis
OMIM:209920	RFXAP	5994	HP:0006562	Viral hepatitis
OMIM:209920	RFXAP	5994	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFXAP	5994	HP:0002024	Malabsorption
OMIM:209920	RFXAP	5994	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFXAP	5994	HP:0004385	Protracted diarrhea
OMIM:209920	RFXAP	5994	HP:0001875	Neutropenia
OMIM:209920	RFXAP	5994	HP:0002965	Cutaneous anergy
OMIM:209920	RFXAP	5994	HP:0002841	Recurrent fungal infections
OMIM:209920	RFXAP	5994	HP:0011473	Villous atrophy
OMIM:209920	RFXAP	5994	HP:0001080	Biliary tract abnormality
OMIM:209920	RFXAP	5994	HP:0002383	Encephalitis
OMIM:209920	RFXAP	5994	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFXAP	5994	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFXAP	5994	HP:0001508	Failure to thrive
OMIM:209920	RFXAP	5994	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFXAP	5994	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFXAP	5994	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFXAP	5994	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFXAP	5994	HP:0004429	Recurrent viral infections
OMIM:209920	RFXAP	5994	HP:0007041	Chronic lymphocytic meningitis
OMIM:601536	HOXA1	3198	HP:0002194	Delayed gross motor development
OMIM:601536	HOXA1	3198	HP:0009145	Abnormal cerebral artery morphology
OMIM:601536	HOXA1	3198	HP:0000496	Abnormality of eye movement
OMIM:601536	HOXA1	3198	HP:0002363	Abnormality of brainstem morphology
OMIM:601536	HOXA1	3198	HP:0000407	Sensorineural hearing impairment
OMIM:611820	AKAP9	10142	HP:0001279	Syncope
OMIM:611820	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:611820	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:268100	NR2E3	10002	HP:0030502	Retinoschisis
OMIM:268100	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:268100	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:268100	NR2E3	10002	HP:0001146	Pigmentary retinal degeneration
OMIM:268100	NR2E3	10002	HP:0012047	Hemeralopia
OMIM:268100	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:268100	NR2E3	10002	HP:0000655	Vitreoretinal degeneration
OMIM:268100	NR2E3	10002	HP:0040049	Macular edema
OMIM:268100	NR2E3	10002	HP:0000518	Cataract
OMIM:604432	TTBK2	146057	HP:0001347	Hyperreflexia
OMIM:604432	TTBK2	146057	HP:0002073	Progressive cerebellar ataxia
OMIM:604432	TTBK2	146057	HP:0000639	Nystagmus
OMIM:604432	TTBK2	146057	HP:0001260	Dysarthria
OMIM:604432	TTBK2	146057	HP:0000006	Autosomal dominant inheritance
OMIM:604432	TTBK2	146057	HP:0001272	Cerebellar atrophy
OMIM:604432	TTBK2	146057	HP:0003581	Adult onset
ORPHA:35737	PAX6	5080	HP:0007703	Abnormality of retinal pigmentation
ORPHA:35737	PAX6	5080	HP:0000646	Amblyopia
ORPHA:35737	PAX6	5080	HP:0000486	Strabismus
OMIM:613710	SLC25A19	60386	HP:0001271	Polyneuropathy
OMIM:613710	SLC25A19	60386	HP:0002490	Increased CSF lactate
OMIM:613710	SLC25A19	60386	HP:0001254	Lethargy
OMIM:613710	SLC25A19	60386	HP:0001265	Hyporeflexia
OMIM:613710	SLC25A19	60386	HP:0001324	Muscle weakness
OMIM:613710	SLC25A19	60386	HP:0003477	Peripheral axonal neuropathy
OMIM:613710	SLC25A19	60386	HP:0005750	Contractures of the joints of the lower limbs
OMIM:613710	SLC25A19	60386	HP:0003470	Paralysis
OMIM:613710	SLC25A19	60386	HP:0000007	Autosomal recessive inheritance
OMIM:613710	SLC25A19	60386	HP:0002355	Difficulty walking
OMIM:613710	SLC25A19	60386	HP:0001762	Talipes equinovarus
OMIM:613710	SLC25A19	60386	HP:0003202	Skeletal muscle atrophy
OMIM:614602	SKIV2L	6499	HP:0002299	Brittle hair
OMIM:614602	SKIV2L	6499	HP:0030056	Uncombable hair
OMIM:614602	SKIV2L	6499	HP:0008070	Sparse hair
OMIM:614602	SKIV2L	6499	HP:0002240	Hepatomegaly
OMIM:614602	SKIV2L	6499	HP:0011473	Villous atrophy
OMIM:614602	SKIV2L	6499	HP:0011220	Prominent forehead
OMIM:614602	SKIV2L	6499	HP:0002014	Diarrhea
OMIM:614602	SKIV2L	6499	HP:0000007	Autosomal recessive inheritance
OMIM:614602	SKIV2L	6499	HP:0000316	Hypertelorism
OMIM:614602	SKIV2L	6499	HP:0012115	Hepatitis
OMIM:614602	SKIV2L	6499	HP:0002583	Colitis
OMIM:614602	SKIV2L	6499	HP:0001518	Small for gestational age
OMIM:614602	SKIV2L	6499	HP:0001508	Failure to thrive
OMIM:614602	SKIV2L	6499	HP:0000445	Wide nose
OMIM:614602	SKIV2L	6499	HP:0001394	Cirrhosis
OMIM:614602	SKIV2L	6499	HP:0002235	Pili canaliculi
OMIM:614602	SKIV2L	6499	HP:0002721	Immunodeficiency
OMIM:614602	SKIV2L	6499	HP:0009886	Trichorrhexis nodosa
OMIM:614602	SKIV2L	6499	HP:0001511	Intrauterine growth retardation
OMIM:614602	SKIV2L	6499	HP:0002224	Woolly hair
OMIM:612572	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:612572	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IDH3B	3420	HP:0000505	Visual impairment
OMIM:612572	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:612572	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IDH3B	3420	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
ORPHA:857	SALL1	6299	HP:0002023	Anal atresia
ORPHA:857	SALL1	6299	HP:0001545	Anteriorly placed anus
ORPHA:857	SALL1	6299	HP:0004209	Clinodactyly of the 5th finger
ORPHA:857	SALL1	6299	HP:0008551	Microtia
ORPHA:857	SALL1	6299	HP:0001199	Triphalangeal thumb
ORPHA:857	SALL1	6299	HP:0001482	Subcutaneous nodule
ORPHA:857	SALL1	6299	HP:0001863	Toe clinodactyly
ORPHA:857	SALL1	6299	HP:0002019	Constipation
ORPHA:857	SALL1	6299	HP:0001177	Preaxial hand polydactyly
ORPHA:857	SALL1	6299	HP:0000396	Overfolded helix
ORPHA:857	SALL1	6299	HP:0004792	Rectoperineal fistula
ORPHA:857	SALL1	6299	HP:0008572	External ear malformation
ORPHA:857	SALL1	6299	HP:0000028	Cryptorchidism
ORPHA:857	SALL1	6299	HP:0000365	Hearing impairment
ORPHA:857	SALL1	6299	HP:0000083	Renal insufficiency
ORPHA:857	SALL1	6299	HP:0000143	Rectovaginal fistula
ORPHA:857	SALL1	6299	HP:0000384	Preauricular skin tag
ORPHA:857	SALL1	6299	HP:0001763	Pes planus
ORPHA:857	DACT1	51339	HP:0002023	Anal atresia
ORPHA:857	DACT1	51339	HP:0001545	Anteriorly placed anus
ORPHA:857	DACT1	51339	HP:0004209	Clinodactyly of the 5th finger
ORPHA:857	DACT1	51339	HP:0008551	Microtia
ORPHA:857	DACT1	51339	HP:0001199	Triphalangeal thumb
ORPHA:857	DACT1	51339	HP:0001482	Subcutaneous nodule
ORPHA:857	DACT1	51339	HP:0001863	Toe clinodactyly
ORPHA:857	DACT1	51339	HP:0002019	Constipation
ORPHA:857	DACT1	51339	HP:0001177	Preaxial hand polydactyly
ORPHA:857	DACT1	51339	HP:0000396	Overfolded helix
ORPHA:857	DACT1	51339	HP:0004792	Rectoperineal fistula
ORPHA:857	DACT1	51339	HP:0008572	External ear malformation
ORPHA:857	DACT1	51339	HP:0000028	Cryptorchidism
ORPHA:857	DACT1	51339	HP:0000365	Hearing impairment
ORPHA:857	DACT1	51339	HP:0000083	Renal insufficiency
ORPHA:857	DACT1	51339	HP:0000143	Rectovaginal fistula
ORPHA:857	DACT1	51339	HP:0000384	Preauricular skin tag
ORPHA:857	DACT1	51339	HP:0001763	Pes planus
OMIM:154800	KIT	3815	HP:0007583	Telangiectasia macularis eruptiva perstans
OMIM:154800	KIT	3815	HP:0010783	Erythema
OMIM:154800	KIT	3815	HP:0001034	Hypermelanotic macule
OMIM:154800	KIT	3815	HP:0001025	Urticaria
OMIM:154800	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:154800	KIT	3815	HP:0200151	Cutaneous mastocytosis
OMIM:301050	COL4A5	1287	HP:0001425	Heterogeneous
OMIM:301050	COL4A5	1287	HP:0003774	Stage 5 chronic kidney disease
OMIM:301050	COL4A5	1287	HP:0006756	Diffuse leiomyomatosis
OMIM:301050	COL4A5	1287	HP:0000407	Sensorineural hearing impairment
OMIM:301050	COL4A5	1287	HP:0000822	Hypertension
OMIM:301050	COL4A5	1287	HP:0002907	Microscopic hematuria
OMIM:301050	COL4A5	1287	HP:0000100	Nephrotic syndrome
OMIM:301050	COL4A5	1287	HP:0008064	Ichthyosis
OMIM:301050	COL4A5	1287	HP:0001873	Thrombocytopenia
OMIM:301050	COL4A5	1287	HP:0000519	Congenital cataract
OMIM:301050	COL4A5	1287	HP:0000829	Hypoparathyroidism
OMIM:301050	COL4A5	1287	HP:0011501	Anterior lenticonus
OMIM:301050	COL4A5	1287	HP:0030034	Diffuse glomerular basement membrane lamellation
OMIM:301050	COL4A5	1287	HP:0200020	Corneal erosion
OMIM:301050	COL4A5	1287	HP:0000545	Myopia
OMIM:301050	COL4A5	1287	HP:0001423	X-linked dominant inheritance
OMIM:301050	COL4A5	1287	HP:0003676	Progressive
OMIM:301050	COL4A5	1287	HP:0000093	Proteinuria
OMIM:301050	COL4A5	1287	HP:0000123	Nephritis
OMIM:301050	COL4A5	1287	HP:0004722	Thickening of the glomerular basement membrane
OMIM:190320	DLX3	1747	HP:0000264	Abnormality of the mastoid
OMIM:190320	DLX3	1747	HP:0001595	Abnormality of the hair
OMIM:190320	DLX3	1747	HP:0000691	Microdontia
OMIM:190320	DLX3	1747	HP:0000268	Dolichocephaly
OMIM:190320	DLX3	1747	HP:0011001	Increased bone mineral density
OMIM:190320	DLX3	1747	HP:0000687	Widely spaced teeth
OMIM:190320	DLX3	1747	HP:0002007	Frontal bossing
OMIM:190320	DLX3	1747	HP:0001808	Fragile nails
OMIM:190320	DLX3	1747	HP:0000006	Autosomal dominant inheritance
OMIM:190320	DLX3	1747	HP:0000679	Taurodontia
OMIM:610842	GGCX	2677	HP:0000973	Cutis laxa
OMIM:610842	GGCX	2677	HP:0008169	Reduced factor VII activity
OMIM:610842	GGCX	2677	HP:0011858	Reduced factor IX activity
OMIM:610842	GGCX	2677	HP:0000421	Epistaxis
OMIM:610842	GGCX	2677	HP:0002621	Atherosclerosis
OMIM:610842	GGCX	2677	HP:0000007	Autosomal recessive inheritance
OMIM:610842	GGCX	2677	HP:0008321	Reduced factor X activity
OMIM:610842	GGCX	2677	HP:0001102	Angioid streaks of the retina
OMIM:610842	GGCX	2677	HP:0012201	Reduced prothrombin activity
OMIM:610189	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:610189	CEP290	80184	HP:0000547	Tapetoretinal degeneration
OMIM:610189	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:610189	CEP290	80184	HP:0000505	Visual impairment
OMIM:610189	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	CEP290	80184	HP:0000707	Abnormality of the nervous system
OMIM:300123	SOX3	6658	HP:0001417	X-linked inheritance
OMIM:300123	SOX3	6658	HP:0004322	Short stature
OMIM:300123	SOX3	6658	HP:0000821	Hypothyroidism
OMIM:300123	SOX3	6658	HP:0000871	Panhypopituitarism
OMIM:300123	SOX3	6658	HP:0000824	Growth hormone deficiency
OMIM:300123	SOX3	6658	HP:0001256	Intellectual disability, mild
OMIM:300123	SOX3	6658	HP:0001263	Global developmental delay
OMIM:613464	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613464	TTC8	123016	HP:0011003	Severe Myopia
OMIM:613464	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	TTC8	123016	HP:0000608	Macular degeneration
OMIM:613464	TTC8	123016	HP:0000505	Visual impairment
OMIM:613464	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613464	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:613464	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	TTC8	123016	HP:0000613	Photophobia
OMIM:613464	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613464	TTC8	123016	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:608106	UNG	7374	HP:0000007	Autosomal recessive inheritance
OMIM:608106	UNG	7374	HP:0004315	IgG deficiency
OMIM:608106	UNG	7374	HP:0002720	IgA deficiency
OMIM:608106	UNG	7374	HP:0002721	Immunodeficiency
OMIM:608106	UNG	7374	HP:0002718	Recurrent bacterial infections
OMIM:608106	UNG	7374	HP:0200117	Recurrent upper and lower respiratory tract infections
OMIM:608106	UNG	7374	HP:0000031	Epididymitis
OMIM:608106	UNG	7374	HP:0002959	Impaired Ig class switch recombination
OMIM:608106	UNG	7374	HP:0002716	Lymphadenopathy
OMIM:608106	UNG	7374	HP:0003496	Increased IgM level
OMIM:615382	ANKS6	203286	HP:0000090	Nephronophthisis
OMIM:615382	ANKS6	203286	HP:0000113	Polycystic kidney dysplasia
OMIM:615382	ANKS6	203286	HP:0000105	Enlarged kidney
OMIM:615382	ANKS6	203286	HP:0000007	Autosomal recessive inheritance
OMIM:615382	ANKS6	203286	HP:0001395	Hepatic fibrosis
OMIM:615382	ANKS6	203286	HP:0001396	Cholestasis
OMIM:615382	ANKS6	203286	HP:0000083	Renal insufficiency
OMIM:156530	TRPV4	59341	HP:0003510	Severe short stature
OMIM:156530	TRPV4	59341	HP:0000774	Narrow chest
OMIM:156530	TRPV4	59341	HP:0002650	Scoliosis
OMIM:156530	TRPV4	59341	HP:0002766	Relatively short spine
OMIM:156530	TRPV4	59341	HP:0002808	Kyphosis
OMIM:156530	TRPV4	59341	HP:0002810	Dumbbell-shaped metaphyses
OMIM:156530	TRPV4	59341	HP:0003336	Abnormal enchondral ossification
OMIM:156530	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:156530	TRPV4	59341	HP:0003332	Absent primary metaphyseal spongiosa
OMIM:156530	TRPV4	59341	HP:0003562	Abnormal metaphyseal vascular invasion
OMIM:156530	TRPV4	59341	HP:0003037	Enlarged joints
OMIM:156530	TRPV4	59341	HP:0002826	Halberd-shaped pelvis
OMIM:156530	TRPV4	59341	HP:0002878	Respiratory failure
OMIM:156530	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:156530	TRPV4	59341	HP:0002822	Hyperplasia of the femoral trochanters
OMIM:156530	TRPV4	59341	HP:0002656	Epiphyseal dysplasia
OMIM:156530	TRPV4	59341	HP:0009381	Short finger
OMIM:156530	TRPV4	59341	HP:0001156	Brachydactyly
OMIM:156530	TRPV4	59341	HP:0003911	Flared humeral metaphysis
OMIM:156530	TRPV4	59341	HP:0002879	Anisospondyly
OMIM:156530	TRPV4	59341	HP:0002825	Caudal appendage
OMIM:156530	TRPV4	59341	HP:0002831	Long coccyx
OMIM:156530	TRPV4	59341	HP:0002834	Flared femoral metaphysis
ORPHA:1410	PADI3	51702	HP:0002224	Woolly hair
ORPHA:1410	PADI3	51702	HP:0011364	White hair
ORPHA:1410	PADI3	51702	HP:0002208	Coarse hair
ORPHA:1410	PADI3	51702	HP:0002552	Trichodysplasia
ORPHA:1410	TGM3	7053	HP:0002224	Woolly hair
ORPHA:1410	TGM3	7053	HP:0011364	White hair
ORPHA:1410	TGM3	7053	HP:0002208	Coarse hair
ORPHA:1410	TGM3	7053	HP:0002552	Trichodysplasia
OMIM:255120	CPT1A	1374	HP:0000007	Autosomal recessive inheritance
OMIM:255120	CPT1A	1374	HP:0001250	Seizures
OMIM:255120	CPT1A	1374	HP:0001259	Coma
OMIM:255120	CPT1A	1374	HP:0002240	Hepatomegaly
OMIM:255120	CPT1A	1374	HP:0001985	Hypoketotic hypoglycemia
OMIM:255120	CPT1A	1374	HP:0001640	Cardiomegaly
OMIM:255120	CPT1A	1374	HP:0002910	Elevated hepatic transaminases
OMIM:255120	CPT1A	1374	HP:0001987	Hyperammonemia
OMIM:255120	CPT1A	1374	HP:0008872	Feeding difficulties in infancy
OMIM:255120	CPT1A	1374	HP:0001290	Generalized hypotonia
OMIM:255120	CPT1A	1374	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255120	CPT1A	1374	HP:0002686	Prenatal maternal abnormality
OMIM:255120	CPT1A	1374	HP:0002014	Diarrhea
OMIM:255120	CPT1A	1374	HP:0001397	Hepatic steatosis
OMIM:255120	CPT1A	1374	HP:0007335	Recurrent encephalopathy
OMIM:255120	CPT1A	1374	HP:0001254	Lethargy
OMIM:255120	CPT1A	1374	HP:0001947	Renal tubular acidosis
OMIM:255120	CPT1A	1374	HP:0008279	Transient hyperlipidemia
OMIM:255120	CPT1A	1374	HP:0011675	Arrhythmia
OMIM:607684	NEFL	4747	HP:0003376	Steppage gait
OMIM:607684	NEFL	4747	HP:0001265	Hyporeflexia
OMIM:607684	NEFL	4747	HP:0001371	Flexion contracture
OMIM:607684	NEFL	4747	HP:0002936	Distal sensory impairment
OMIM:607684	NEFL	4747	HP:0001765	Hammertoe
OMIM:607684	NEFL	4747	HP:0002460	Distal muscle weakness
OMIM:607684	NEFL	4747	HP:0001284	Areflexia
OMIM:607684	NEFL	4747	HP:0003693	Distal amyotrophy
OMIM:607684	NEFL	4747	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607684	NEFL	4747	HP:0006006	Hypotrophy of the small hand muscles
OMIM:607684	NEFL	4747	HP:0001171	Split hand
OMIM:607684	NEFL	4747	HP:0003828	Variable expressivity
OMIM:607684	NEFL	4747	HP:0001761	Pes cavus
OMIM:607684	NEFL	4747	HP:0000006	Autosomal dominant inheritance
OMIM:607684	NEFL	4747	HP:0001178	Ulnar claw
OMIM:607684	NEFL	4747	HP:0009027	Foot dorsiflexor weakness
OMIM:277180	CFTR	1080	HP:0000007	Autosomal recessive inheritance
OMIM:277180	CFTR	1080	HP:0001425	Heterogeneous
OMIM:277180	CFTR	1080	HP:0000027	Azoospermia
OMIM:156500	COL10A1	1300	HP:0002812	Coxa vara
OMIM:156500	COL10A1	1300	HP:0006431	Proximal femoral metaphyseal abnormality
OMIM:156500	COL10A1	1300	HP:0008833	Irregular acetabular roof
OMIM:156500	COL10A1	1300	HP:0009844	Broad middle phalanx of finger
OMIM:156500	COL10A1	1300	HP:0005819	Short middle phalanx of finger
OMIM:156500	COL10A1	1300	HP:0003502	Mild short stature
OMIM:156500	COL10A1	1300	HP:0009882	Short distal phalanx of finger
OMIM:156500	COL10A1	1300	HP:0002970	Genu varum
OMIM:156500	COL10A1	1300	HP:0002980	Femoral bowing
OMIM:156500	COL10A1	1300	HP:0002515	Waddling gait
OMIM:156500	COL10A1	1300	HP:0005871	Metaphyseal chondrodysplasia
OMIM:156500	COL10A1	1300	HP:0000006	Autosomal dominant inheritance
OMIM:156500	COL10A1	1300	HP:0006208	Metaphyseal cupping of proximal phalanges
OMIM:156500	COL10A1	1300	HP:0006414	Distal tibial bowing
OMIM:156500	COL10A1	1300	HP:0006028	Metaphyseal cupping of metacarpals
OMIM:156500	COL10A1	1300	HP:0003371	Enlargement of the proximal femoral epiphysis
OMIM:156500	COL10A1	1300	HP:0000926	Platyspondyly
OMIM:156500	COL10A1	1300	HP:0003301	Irregular vertebral endplates
OMIM:609981	MCM4	4173	HP:0002716	Lymphadenopathy
OMIM:609981	MCM4	4173	HP:0001744	Splenomegaly
OMIM:609981	MCM4	4173	HP:0005523	Lymphoproliferative disorder
OMIM:609981	MCM4	4173	HP:0001511	Intrauterine growth retardation
OMIM:609981	MCM4	4173	HP:0000252	Microcephaly
OMIM:609981	MCM4	4173	HP:0000846	Adrenal insufficiency
OMIM:609981	MCM4	4173	HP:0002240	Hepatomegaly
OMIM:609981	MCM4	4173	HP:0000007	Autosomal recessive inheritance
OMIM:609981	MCM4	4173	HP:0002205	Recurrent respiratory infections
OMIM:609981	MCM4	4173	HP:0004429	Recurrent viral infections
OMIM:609981	MCM4	4173	HP:0008897	Postnatal growth retardation
OMIM:609981	MCM4	4173	HP:0001263	Global developmental delay
OMIM:610773	SLC25A3	5250	HP:0000961	Cyanosis
OMIM:610773	SLC25A3	5250	HP:0001942	Metabolic acidosis
OMIM:610773	SLC25A3	5250	HP:0003128	Lactic acidosis
OMIM:610773	SLC25A3	5250	HP:0012087	Abnormal mitochondrial shape
OMIM:610773	SLC25A3	5250	HP:0000007	Autosomal recessive inheritance
OMIM:610773	SLC25A3	5250	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610773	SLC25A3	5250	HP:0002093	Respiratory insufficiency
OMIM:610773	SLC25A3	5250	HP:0001252	Muscular hypotonia
OMIM:259775	FAM20C	56975	HP:0011800	Midface retrusion
OMIM:259775	FAM20C	56975	HP:0000453	Choanal atresia
OMIM:259775	FAM20C	56975	HP:0002148	Hypophosphatemia
OMIM:259775	FAM20C	56975	HP:0000347	Micrognathia
OMIM:259775	FAM20C	56975	HP:0000494	Downslanted palpebral fissures
OMIM:259775	FAM20C	56975	HP:0000244	Brachyturricephaly
OMIM:259775	FAM20C	56975	HP:0000452	Choanal stenosis
OMIM:259775	FAM20C	56975	HP:0003196	Short nose
OMIM:259775	FAM20C	56975	HP:0000007	Autosomal recessive inheritance
OMIM:259775	FAM20C	56975	HP:0002514	Cerebral calcification
OMIM:259775	FAM20C	56975	HP:0000369	Low-set ears
OMIM:259775	FAM20C	56975	HP:0000252	Microcephaly
OMIM:259775	FAM20C	56975	HP:0002089	Pulmonary hypoplasia
OMIM:259775	FAM20C	56975	HP:0000175	Cleft palate
OMIM:259775	FAM20C	56975	HP:0001263	Global developmental delay
OMIM:259775	FAM20C	56975	HP:0000212	Gingival overgrowth
OMIM:259775	FAM20C	56975	HP:0000218	High palate
OMIM:259775	FAM20C	56975	HP:0000272	Malar flattening
OMIM:259775	FAM20C	56975	HP:0011001	Increased bone mineral density
OMIM:259775	FAM20C	56975	HP:0000316	Hypertelorism
OMIM:259775	FAM20C	56975	HP:0000520	Proptosis
OMIM:259775	FAM20C	56975	HP:0000239	Large fontanelles
OMIM:259775	FAM20C	56975	HP:0005280	Depressed nasal bridge
OMIM:259775	FAM20C	56975	HP:0004322	Short stature
OMIM:259775	FAM20C	56975	HP:0010808	Protruding tongue
OMIM:259775	FAM20C	56975	HP:0003155	Elevated alkaline phosphatase
OMIM:259775	FAM20C	56975	HP:0000160	Narrow mouth
OMIM:259775	FAM20C	56975	HP:0003811	Neonatal death
OMIM:259775	FAM20C	56975	HP:0000470	Short neck
OMIM:259775	FAM20C	56975	HP:0005257	Thoracic hypoplasia
ORPHA:231226	HBB	3043	HP:0001744	Splenomegaly
ORPHA:231226	HBB	3043	HP:0000952	Jaundice
ORPHA:231226	HBB	3043	HP:0011902	Abnormal hemoglobin
ORPHA:231226	HBB	3043	HP:0001935	Microcytic anemia
ORPHA:231226	HBB	3043	HP:0000980	Pallor
OMIM:612656	SLC1A3	6507	HP:0002131	Episodic ataxia
OMIM:612656	SLC1A3	6507	HP:0001270	Motor delay
OMIM:612656	SLC1A3	6507	HP:0001321	Cerebellar hypoplasia
OMIM:612656	SLC1A3	6507	HP:0002076	Migraine
OMIM:612656	SLC1A3	6507	HP:0002183	Phonophobia
OMIM:612656	SLC1A3	6507	HP:0001290	Generalized hypotonia
OMIM:612656	SLC1A3	6507	HP:0001350	Slurred speech
OMIM:612656	SLC1A3	6507	HP:0002013	Vomiting
OMIM:612656	SLC1A3	6507	HP:0001269	Hemiparesis
OMIM:612656	SLC1A3	6507	HP:0002321	Vertigo
OMIM:612656	SLC1A3	6507	HP:0001250	Seizures
OMIM:612656	SLC1A3	6507	HP:0002078	Truncal ataxia
OMIM:612656	SLC1A3	6507	HP:0002301	Hemiplegia
OMIM:612656	SLC1A3	6507	HP:0000006	Autosomal dominant inheritance
OMIM:612656	SLC1A3	6507	HP:0000613	Photophobia
OMIM:612656	SLC1A3	6507	HP:0000651	Diplopia
OMIM:612656	SLC1A3	6507	HP:0002018	Nausea
OMIM:612656	SLC1A3	6507	HP:0001260	Dysarthria
OMIM:231680	ETFA	2108	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
OMIM:231680	ETFA	2108	HP:0000114	Proximal tubulopathy
OMIM:231680	ETFA	2108	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFA	2108	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFA	2108	HP:0001397	Hepatic steatosis
OMIM:231680	ETFA	2108	HP:0001324	Muscle weakness
OMIM:231680	ETFA	2108	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFA	2108	HP:0003219	Ethylmalonic aciduria
OMIM:231680	ETFA	2108	HP:0003076	Glycosuria
OMIM:231680	ETFA	2108	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFA	2108	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFA	2108	HP:0001252	Muscular hypotonia
OMIM:231680	ETFA	2108	HP:0002614	Hepatic periportal necrosis
OMIM:231680	ETFA	2108	HP:0001302	Pachygyria
OMIM:231680	ETFA	2108	HP:0003811	Neonatal death
OMIM:231680	ETFA	2108	HP:0001325	Hypoglycemic coma
OMIM:231680	ETFA	2108	HP:0002098	Respiratory distress
OMIM:231680	ETFA	2108	HP:0001999	Abnormal facial shape
OMIM:231680	ETFA	2108	HP:0000506	Telecanthus
OMIM:231680	ETFA	2108	HP:0000803	Renal cortical cysts
OMIM:231680	ETFA	2108	HP:0000348	High forehead
OMIM:231680	ETFA	2108	HP:0002018	Nausea
OMIM:231680	ETFA	2108	HP:0003530	Glutaric acidemia
OMIM:231680	ETFA	2108	HP:0001943	Hypoglycemia
OMIM:231680	ETFA	2108	HP:0000952	Jaundice
OMIM:231680	ETFA	2108	HP:0002171	Gliosis
OMIM:231680	ETFA	2108	HP:0002909	Generalized aminoaciduria
OMIM:231680	ETFA	2108	HP:0002013	Vomiting
OMIM:231680	ETFA	2108	HP:0002240	Hepatomegaly
OMIM:231680	ETFA	2108	HP:0000256	Macrocephaly
OMIM:231680	ETFA	2108	HP:0000260	Wide anterior fontanel
OMIM:231680	ETFA	2108	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFA	2108	HP:0000519	Congenital cataract
OMIM:231680	ETFA	2108	HP:0003490	Defective dehydrogenation of isovaleryl CoA and butyryl CoA
OMIM:231680	ETFA	2108	HP:0003150	Glutaric aciduria
OMIM:231680	ETFB	2109	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
OMIM:231680	ETFB	2109	HP:0000114	Proximal tubulopathy
OMIM:231680	ETFB	2109	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFB	2109	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFB	2109	HP:0001397	Hepatic steatosis
OMIM:231680	ETFB	2109	HP:0001324	Muscle weakness
OMIM:231680	ETFB	2109	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFB	2109	HP:0003219	Ethylmalonic aciduria
OMIM:231680	ETFB	2109	HP:0003076	Glycosuria
OMIM:231680	ETFB	2109	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFB	2109	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFB	2109	HP:0001252	Muscular hypotonia
OMIM:231680	ETFB	2109	HP:0002614	Hepatic periportal necrosis
OMIM:231680	ETFB	2109	HP:0001302	Pachygyria
OMIM:231680	ETFB	2109	HP:0003811	Neonatal death
OMIM:231680	ETFB	2109	HP:0001325	Hypoglycemic coma
OMIM:231680	ETFB	2109	HP:0002098	Respiratory distress
OMIM:231680	ETFB	2109	HP:0001999	Abnormal facial shape
OMIM:231680	ETFB	2109	HP:0000506	Telecanthus
OMIM:231680	ETFB	2109	HP:0000803	Renal cortical cysts
OMIM:231680	ETFB	2109	HP:0000348	High forehead
OMIM:231680	ETFB	2109	HP:0002018	Nausea
OMIM:231680	ETFB	2109	HP:0003530	Glutaric acidemia
OMIM:231680	ETFB	2109	HP:0001943	Hypoglycemia
OMIM:231680	ETFB	2109	HP:0000952	Jaundice
OMIM:231680	ETFB	2109	HP:0002171	Gliosis
OMIM:231680	ETFB	2109	HP:0002909	Generalized aminoaciduria
OMIM:231680	ETFB	2109	HP:0002013	Vomiting
OMIM:231680	ETFB	2109	HP:0002240	Hepatomegaly
OMIM:231680	ETFB	2109	HP:0000256	Macrocephaly
OMIM:231680	ETFB	2109	HP:0000260	Wide anterior fontanel
OMIM:231680	ETFB	2109	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFB	2109	HP:0000519	Congenital cataract
OMIM:231680	ETFB	2109	HP:0003490	Defective dehydrogenation of isovaleryl CoA and butyryl CoA
OMIM:231680	ETFB	2109	HP:0003150	Glutaric aciduria
OMIM:231680	ETFDH	2110	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
OMIM:231680	ETFDH	2110	HP:0000114	Proximal tubulopathy
OMIM:231680	ETFDH	2110	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFDH	2110	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFDH	2110	HP:0001397	Hepatic steatosis
OMIM:231680	ETFDH	2110	HP:0001324	Muscle weakness
OMIM:231680	ETFDH	2110	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFDH	2110	HP:0003219	Ethylmalonic aciduria
OMIM:231680	ETFDH	2110	HP:0003076	Glycosuria
OMIM:231680	ETFDH	2110	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFDH	2110	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFDH	2110	HP:0001252	Muscular hypotonia
OMIM:231680	ETFDH	2110	HP:0002614	Hepatic periportal necrosis
OMIM:231680	ETFDH	2110	HP:0001302	Pachygyria
OMIM:231680	ETFDH	2110	HP:0003811	Neonatal death
OMIM:231680	ETFDH	2110	HP:0001325	Hypoglycemic coma
OMIM:231680	ETFDH	2110	HP:0002098	Respiratory distress
OMIM:231680	ETFDH	2110	HP:0001999	Abnormal facial shape
OMIM:231680	ETFDH	2110	HP:0000506	Telecanthus
OMIM:231680	ETFDH	2110	HP:0000803	Renal cortical cysts
OMIM:231680	ETFDH	2110	HP:0000348	High forehead
OMIM:231680	ETFDH	2110	HP:0002018	Nausea
OMIM:231680	ETFDH	2110	HP:0003530	Glutaric acidemia
OMIM:231680	ETFDH	2110	HP:0001943	Hypoglycemia
OMIM:231680	ETFDH	2110	HP:0000952	Jaundice
OMIM:231680	ETFDH	2110	HP:0002171	Gliosis
OMIM:231680	ETFDH	2110	HP:0002909	Generalized aminoaciduria
OMIM:231680	ETFDH	2110	HP:0002013	Vomiting
OMIM:231680	ETFDH	2110	HP:0002240	Hepatomegaly
OMIM:231680	ETFDH	2110	HP:0000256	Macrocephaly
OMIM:231680	ETFDH	2110	HP:0000260	Wide anterior fontanel
OMIM:231680	ETFDH	2110	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFDH	2110	HP:0000519	Congenital cataract
OMIM:231680	ETFDH	2110	HP:0003490	Defective dehydrogenation of isovaleryl CoA and butyryl CoA
OMIM:231680	ETFDH	2110	HP:0003150	Glutaric aciduria
OMIM:613477	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:613477	SPTAN1	6709	HP:0001347	Hyperreflexia
OMIM:613477	SPTAN1	6709	HP:0003429	CNS hypomyelination
OMIM:613477	SPTAN1	6709	HP:0003593	Infantile onset
OMIM:613477	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:613477	SPTAN1	6709	HP:0001272	Cerebellar atrophy
OMIM:613477	SPTAN1	6709	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	SPTAN1	6709	HP:0002187	Intellectual disability, profound
OMIM:613477	SPTAN1	6709	HP:0000253	Progressive microcephaly
OMIM:613477	SPTAN1	6709	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:613477	SPTAN1	6709	HP:0001290	Generalized hypotonia
OMIM:613477	SPTAN1	6709	HP:0002510	Spastic tetraplegia
OMIM:613477	SPTAN1	6709	HP:0003828	Variable expressivity
OMIM:613477	SPTAN1	6709	HP:0001250	Seizures
OMIM:613477	SPTAN1	6709	HP:0000006	Autosomal dominant inheritance
OMIM:613477	SPTAN1	6709	HP:0002059	Cerebral atrophy
OMIM:613477	SPTAN1	6709	HP:0010864	Intellectual disability, severe
ORPHA:79478	MYO5A	4644	HP:0005599	Hypopigmentation of hair
ORPHA:79478	MLPH	79083	HP:0005599	Hypopigmentation of hair
OMIM:606762	GLUD1	2746	HP:0008162	Asymptomatic hyperammonemia
OMIM:606762	GLUD1	2746	HP:0001425	Heterogeneous
OMIM:606762	GLUD1	2746	HP:0000006	Autosomal dominant inheritance
OMIM:606762	GLUD1	2746	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:606762	GLUD1	2746	HP:0001249	Intellectual disability
OMIM:606762	GLUD1	2746	HP:0001325	Hypoglycemic coma
OMIM:606762	GLUD1	2746	HP:0002173	Hypoglycemic seizures
ORPHA:978	TP63	8626	HP:0001480	Freckling
ORPHA:978	TP63	8626	HP:0006482	Abnormality of dental morphology
ORPHA:978	TP63	8626	HP:0000995	Melanocytic nevus
ORPHA:978	TP63	8626	HP:0001839	Split foot
ORPHA:978	TP63	8626	HP:0002561	Absent nipple
ORPHA:978	TP63	8626	HP:0100797	Toenail dysplasia
ORPHA:978	TP63	8626	HP:0100798	Fingernail dysplasia
ORPHA:978	TP63	8626	HP:0000958	Dry skin
ORPHA:978	TP63	8626	HP:0001770	Toe syndactyly
ORPHA:978	TP63	8626	HP:0002213	Fine hair
ORPHA:978	TP63	8626	HP:0001803	Nail pits
ORPHA:978	TP63	8626	HP:0002557	Hypoplastic nipples
ORPHA:978	TP63	8626	HP:0002209	Sparse scalp hair
ORPHA:978	TP63	8626	HP:0003187	Breast hypoplasia
ORPHA:978	TP63	8626	HP:0006101	Finger syndactyly
ORPHA:978	TP63	8626	HP:0001596	Alopecia
ORPHA:978	TP63	8626	HP:0200042	Skin ulcer
ORPHA:978	TP63	8626	HP:0000963	Thin skin
ORPHA:978	TP63	8626	HP:0000579	Nasolacrimal duct obstruction
OMIM:614104	DYRK1A	1859	HP:0001251	Ataxia
OMIM:614104	DYRK1A	1859	HP:0010864	Intellectual disability, severe
OMIM:614104	DYRK1A	1859	HP:0011344	Severe global developmental delay
OMIM:614104	DYRK1A	1859	HP:0000341	Narrow forehead
OMIM:614104	DYRK1A	1859	HP:0000752	Hyperactivity
OMIM:614104	DYRK1A	1859	HP:0000414	Bulbous nose
OMIM:614104	DYRK1A	1859	HP:0001288	Gait disturbance
OMIM:614104	DYRK1A	1859	HP:0000717	Autism
OMIM:614104	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614104	DYRK1A	1859	HP:0001822	Hallux valgus
OMIM:614104	DYRK1A	1859	HP:0001290	Generalized hypotonia
OMIM:614104	DYRK1A	1859	HP:0001518	Small for gestational age
OMIM:614104	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:614104	DYRK1A	1859	HP:0000347	Micrognathia
OMIM:614104	DYRK1A	1859	HP:0000601	Hypotelorism
OMIM:614104	DYRK1A	1859	HP:0002120	Cerebral cortical atrophy
OMIM:614104	DYRK1A	1859	HP:0001531	Failure to thrive in infancy
OMIM:614104	DYRK1A	1859	HP:0002373	Febrile seizures
OMIM:614104	DYRK1A	1859	HP:0000750	Delayed speech and language development
OMIM:614104	DYRK1A	1859	HP:0001511	Intrauterine growth retardation
OMIM:614104	DYRK1A	1859	HP:0000391	Thickened helices
OMIM:614104	DYRK1A	1859	HP:0000400	Macrotia
OMIM:614104	DYRK1A	1859	HP:0000490	Deeply set eye
OMIM:614063	NAT8L	339983	HP:0002078	Truncal ataxia
OMIM:614063	NAT8L	339983	HP:0002317	Unsteady gait
OMIM:614063	NAT8L	339983	HP:0004322	Short stature
OMIM:614063	NAT8L	339983	HP:0004325	Decreased body weight
OMIM:614063	NAT8L	339983	HP:0000007	Autosomal recessive inheritance
OMIM:614063	NAT8L	339983	HP:0000023	Inguinal hernia
OMIM:614063	NAT8L	339983	HP:0001290	Generalized hypotonia
OMIM:614063	NAT8L	339983	HP:0001263	Global developmental delay
OMIM:614063	NAT8L	339983	HP:0001250	Seizures
OMIM:614063	NAT8L	339983	HP:0000736	Short attention span
OMIM:614063	NAT8L	339983	HP:0000252	Microcephaly
OMIM:614063	NAT8L	339983	HP:0000733	Stereotypy
OMIM:603896	EIF2B4	8890	HP:0001290	Generalized hypotonia
OMIM:603896	EIF2B4	8890	HP:0004485	Cessation of head growth
OMIM:603896	EIF2B4	8890	HP:0000712	Emotional lability
OMIM:603896	EIF2B4	8890	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B4	8890	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B4	8890	HP:0000746	Delusions
OMIM:603896	EIF2B4	8890	HP:0007305	CNS demyelination
OMIM:603896	EIF2B4	8890	HP:0003621	Juvenile onset
OMIM:603896	EIF2B4	8890	HP:0008193	Primary gonadal insufficiency
OMIM:603896	EIF2B4	8890	HP:0001257	Spasticity
OMIM:603896	EIF2B4	8890	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B4	8890	HP:0008233	Decreased circulating progesterone
OMIM:603896	EIF2B4	8890	HP:0002354	Memory impairment
OMIM:603896	EIF2B4	8890	HP:0001250	Seizures
OMIM:603896	EIF2B4	8890	HP:0001260	Dysarthria
OMIM:603896	EIF2B4	8890	HP:0008209	Premature ovarian insufficiency
OMIM:603896	EIF2B4	8890	HP:0000648	Optic atrophy
OMIM:603896	EIF2B4	8890	HP:0001254	Lethargy
OMIM:603896	EIF2B4	8890	HP:0000751	Personality changes
OMIM:603896	EIF2B4	8890	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B4	8890	HP:0000256	Macrocephaly
OMIM:603896	EIF2B4	8890	HP:0002317	Unsteady gait
OMIM:603896	EIF2B4	8890	HP:0002376	Developmental regression
OMIM:603896	EIF2B3	8891	HP:0001290	Generalized hypotonia
OMIM:603896	EIF2B3	8891	HP:0004485	Cessation of head growth
OMIM:603896	EIF2B3	8891	HP:0000712	Emotional lability
OMIM:603896	EIF2B3	8891	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B3	8891	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B3	8891	HP:0000746	Delusions
OMIM:603896	EIF2B3	8891	HP:0007305	CNS demyelination
OMIM:603896	EIF2B3	8891	HP:0003621	Juvenile onset
OMIM:603896	EIF2B3	8891	HP:0008193	Primary gonadal insufficiency
OMIM:603896	EIF2B3	8891	HP:0001257	Spasticity
OMIM:603896	EIF2B3	8891	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B3	8891	HP:0008233	Decreased circulating progesterone
OMIM:603896	EIF2B3	8891	HP:0002354	Memory impairment
OMIM:603896	EIF2B3	8891	HP:0001250	Seizures
OMIM:603896	EIF2B3	8891	HP:0001260	Dysarthria
OMIM:603896	EIF2B3	8891	HP:0008209	Premature ovarian insufficiency
OMIM:603896	EIF2B3	8891	HP:0000648	Optic atrophy
OMIM:603896	EIF2B3	8891	HP:0001254	Lethargy
OMIM:603896	EIF2B3	8891	HP:0000751	Personality changes
OMIM:603896	EIF2B3	8891	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B3	8891	HP:0000256	Macrocephaly
OMIM:603896	EIF2B3	8891	HP:0002317	Unsteady gait
OMIM:603896	EIF2B3	8891	HP:0002376	Developmental regression
OMIM:603896	EIF2B2	8892	HP:0001290	Generalized hypotonia
OMIM:603896	EIF2B2	8892	HP:0004485	Cessation of head growth
OMIM:603896	EIF2B2	8892	HP:0000712	Emotional lability
OMIM:603896	EIF2B2	8892	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B2	8892	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B2	8892	HP:0000746	Delusions
OMIM:603896	EIF2B2	8892	HP:0007305	CNS demyelination
OMIM:603896	EIF2B2	8892	HP:0003621	Juvenile onset
OMIM:603896	EIF2B2	8892	HP:0008193	Primary gonadal insufficiency
OMIM:603896	EIF2B2	8892	HP:0001257	Spasticity
OMIM:603896	EIF2B2	8892	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B2	8892	HP:0008233	Decreased circulating progesterone
OMIM:603896	EIF2B2	8892	HP:0002354	Memory impairment
OMIM:603896	EIF2B2	8892	HP:0001250	Seizures
OMIM:603896	EIF2B2	8892	HP:0001260	Dysarthria
OMIM:603896	EIF2B2	8892	HP:0008209	Premature ovarian insufficiency
OMIM:603896	EIF2B2	8892	HP:0000648	Optic atrophy
OMIM:603896	EIF2B2	8892	HP:0001254	Lethargy
OMIM:603896	EIF2B2	8892	HP:0000751	Personality changes
OMIM:603896	EIF2B2	8892	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B2	8892	HP:0000256	Macrocephaly
OMIM:603896	EIF2B2	8892	HP:0002317	Unsteady gait
OMIM:603896	EIF2B2	8892	HP:0002376	Developmental regression
OMIM:603896	EIF2B5	8893	HP:0001290	Generalized hypotonia
OMIM:603896	EIF2B5	8893	HP:0004485	Cessation of head growth
OMIM:603896	EIF2B5	8893	HP:0000712	Emotional lability
OMIM:603896	EIF2B5	8893	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B5	8893	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B5	8893	HP:0000746	Delusions
OMIM:603896	EIF2B5	8893	HP:0007305	CNS demyelination
OMIM:603896	EIF2B5	8893	HP:0003621	Juvenile onset
OMIM:603896	EIF2B5	8893	HP:0008193	Primary gonadal insufficiency
OMIM:603896	EIF2B5	8893	HP:0001257	Spasticity
OMIM:603896	EIF2B5	8893	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B5	8893	HP:0008233	Decreased circulating progesterone
OMIM:603896	EIF2B5	8893	HP:0002354	Memory impairment
OMIM:603896	EIF2B5	8893	HP:0001250	Seizures
OMIM:603896	EIF2B5	8893	HP:0001260	Dysarthria
OMIM:603896	EIF2B5	8893	HP:0008209	Premature ovarian insufficiency
OMIM:603896	EIF2B5	8893	HP:0000648	Optic atrophy
OMIM:603896	EIF2B5	8893	HP:0001254	Lethargy
OMIM:603896	EIF2B5	8893	HP:0000751	Personality changes
OMIM:603896	EIF2B5	8893	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B5	8893	HP:0000256	Macrocephaly
OMIM:603896	EIF2B5	8893	HP:0002317	Unsteady gait
OMIM:603896	EIF2B5	8893	HP:0002376	Developmental regression
OMIM:603896	EIF2B1	1967	HP:0001290	Generalized hypotonia
OMIM:603896	EIF2B1	1967	HP:0004485	Cessation of head growth
OMIM:603896	EIF2B1	1967	HP:0000712	Emotional lability
OMIM:603896	EIF2B1	1967	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B1	1967	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B1	1967	HP:0000746	Delusions
OMIM:603896	EIF2B1	1967	HP:0007305	CNS demyelination
OMIM:603896	EIF2B1	1967	HP:0003621	Juvenile onset
OMIM:603896	EIF2B1	1967	HP:0008193	Primary gonadal insufficiency
OMIM:603896	EIF2B1	1967	HP:0001257	Spasticity
OMIM:603896	EIF2B1	1967	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B1	1967	HP:0008233	Decreased circulating progesterone
OMIM:603896	EIF2B1	1967	HP:0002354	Memory impairment
OMIM:603896	EIF2B1	1967	HP:0001250	Seizures
OMIM:603896	EIF2B1	1967	HP:0001260	Dysarthria
OMIM:603896	EIF2B1	1967	HP:0008209	Premature ovarian insufficiency
OMIM:603896	EIF2B1	1967	HP:0000648	Optic atrophy
OMIM:603896	EIF2B1	1967	HP:0001254	Lethargy
OMIM:603896	EIF2B1	1967	HP:0000751	Personality changes
OMIM:603896	EIF2B1	1967	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B1	1967	HP:0000256	Macrocephaly
OMIM:603896	EIF2B1	1967	HP:0002317	Unsteady gait
OMIM:603896	EIF2B1	1967	HP:0002376	Developmental regression
OMIM:230900	GBA	2629	HP:0002100	Recurrent aspiration pneumonia
OMIM:230900	GBA	2629	HP:0002104	Apnea
OMIM:230900	GBA	2629	HP:0001508	Failure to thrive
OMIM:230900	GBA	2629	HP:0001744	Splenomegaly
OMIM:230900	GBA	2629	HP:0011968	Feeding difficulties
OMIM:230900	GBA	2629	HP:0001263	Global developmental delay
OMIM:230900	GBA	2629	HP:0001347	Hyperreflexia
OMIM:230900	GBA	2629	HP:0000565	Esotropia
OMIM:230900	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:230900	GBA	2629	HP:0000211	Trismus
OMIM:230900	GBA	2629	HP:0001250	Seizures
OMIM:230900	GBA	2629	HP:0002240	Hepatomegaly
OMIM:230900	GBA	2629	HP:0000657	Oculomotor apraxia
OMIM:230900	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:230900	GBA	2629	HP:0001538	Protuberant abdomen
OMIM:230900	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:230900	GBA	2629	HP:0002483	Bulbar signs
OMIM:230900	GBA	2629	HP:0002015	Dysphagia
OMIM:230900	GBA	2629	HP:0001257	Spasticity
OMIM:230900	GBA	2629	HP:0002063	Rigidity
OMIM:230900	GBA	2629	HP:0002059	Cerebral atrophy
OMIM:230900	GBA	2629	HP:0000486	Strabismus
OMIM:230900	GBA	2629	HP:0001903	Anemia
OMIM:231670	GCDH	2639	HP:0002240	Hepatomegaly
OMIM:231670	GCDH	2639	HP:0003150	Glutaric aciduria
OMIM:231670	GCDH	2639	HP:0001332	Dystonia
OMIM:231670	GCDH	2639	HP:0006956	Dilation of lateral ventricles
OMIM:231670	GCDH	2639	HP:0003530	Glutaric acidemia
OMIM:231670	GCDH	2639	HP:0001943	Hypoglycemia
OMIM:231670	GCDH	2639	HP:0001946	Ketosis
OMIM:231670	GCDH	2639	HP:0007105	Infantile encephalopathy
OMIM:231670	GCDH	2639	HP:0000007	Autosomal recessive inheritance
OMIM:231670	GCDH	2639	HP:0002063	Rigidity
OMIM:231670	GCDH	2639	HP:0006873	Symmetrical progressive peripheral demyelination
OMIM:231670	GCDH	2639	HP:0001942	Metabolic acidosis
OMIM:231670	GCDH	2639	HP:0001266	Choreoathetosis
OMIM:231670	GCDH	2639	HP:0001264	Spastic diplegia
OMIM:231670	GCDH	2639	HP:0002919	Ketonuria
OMIM:231670	GCDH	2639	HP:0012448	Delayed myelination
OMIM:231670	GCDH	2639	HP:0000256	Macrocephaly
OMIM:231670	GCDH	2639	HP:0001290	Generalized hypotonia
OMIM:231670	GCDH	2639	HP:0001508	Failure to thrive
OMIM:231670	GCDH	2639	HP:0002179	Opisthotonus
OMIM:110100	FOXL2	668	HP:0000568	Microphthalmia
OMIM:110100	FOXL2	668	HP:0000486	Strabismus
OMIM:110100	FOXL2	668	HP:0000218	High palate
OMIM:110100	FOXL2	668	HP:0005280	Depressed nasal bridge
OMIM:110100	FOXL2	668	HP:0000013	Hypoplasia of the uterus
OMIM:110100	FOXL2	668	HP:0000378	Cupped ear
OMIM:110100	FOXL2	668	HP:0000506	Telecanthus
OMIM:110100	FOXL2	668	HP:0000540	Hypermetropia
OMIM:110100	FOXL2	668	HP:0000581	Blepharophimosis
OMIM:110100	FOXL2	668	HP:0000431	Wide nasal bridge
OMIM:110100	FOXL2	668	HP:0000769	Abnormality of the breast
OMIM:110100	FOXL2	668	HP:0000006	Autosomal dominant inheritance
OMIM:110100	FOXL2	668	HP:0008222	Female infertility
OMIM:110100	FOXL2	668	HP:0000508	Ptosis
OMIM:110100	FOXL2	668	HP:0008209	Premature ovarian insufficiency
OMIM:110100	FOXL2	668	HP:0000141	Amenorrhea
OMIM:110100	FOXL2	668	HP:0000639	Nystagmus
OMIM:110100	FOXL2	668	HP:0000482	Microcornea
OMIM:110100	FOXL2	668	HP:0001595	Abnormality of the hair
OMIM:110100	FOXL2	668	HP:0000837	Increased circulating gonadotropin level
OMIM:110100	FOXL2	668	HP:0000537	Epicanthus inversus
OMIM:614053	ATP5E	514	HP:0003535	3-Methylglutaconic aciduria
OMIM:614053	ATP5E	514	HP:0001249	Intellectual disability
OMIM:614053	ATP5E	514	HP:0000007	Autosomal recessive inheritance
OMIM:614053	ATP5E	514	HP:0003128	Lactic acidosis
OMIM:614053	ATP5E	514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614053	ATP5E	514	HP:0009830	Peripheral neuropathy
OMIM:614053	ATP5E	514	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
OMIM:258860	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:258860	TCTN3	26123	HP:0000286	Epicanthus
OMIM:258860	TCTN3	26123	HP:0000767	Pectus excavatum
OMIM:258860	TCTN3	26123	HP:0001829	Foot polydactyly
OMIM:258860	TCTN3	26123	HP:0000218	High palate
OMIM:258860	TCTN3	26123	HP:0000316	Hypertelorism
OMIM:258860	TCTN3	26123	HP:0000199	Tongue nodules
OMIM:258860	TCTN3	26123	HP:0000175	Cleft palate
OMIM:258860	TCTN3	26123	HP:0000347	Micrognathia
OMIM:258860	TCTN3	26123	HP:0000180	Lobulated tongue
OMIM:258860	TCTN3	26123	HP:0011802	Hamartoma of tongue
OMIM:258860	TCTN3	26123	HP:0000191	Accessory oral frenulum
OMIM:258860	TCTN3	26123	HP:0000369	Low-set ears
OMIM:258860	TCTN3	26123	HP:0005736	Short tibia
OMIM:258860	TCTN3	26123	HP:0004322	Short stature
OMIM:258860	TCTN3	26123	HP:0001156	Brachydactyly
OMIM:258860	TCTN3	26123	HP:0002132	Porencephalic cyst
OMIM:258860	TCTN3	26123	HP:0009381	Short finger
OMIM:258860	TCTN3	26123	HP:0002059	Cerebral atrophy
OMIM:258860	TCTN3	26123	HP:0001161	Hand polydactyly
OMIM:258860	TCTN3	26123	HP:0001770	Toe syndactyly
OMIM:258860	TCTN3	26123	HP:0030084	Clinodactyly
OMIM:614432	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614432	NKX2-5	1482	HP:0001629	Ventricular septal defect
OMIM:214950	AMACR	23600	HP:0001406	Intrahepatic cholestasis
OMIM:214950	AMACR	23600	HP:0000007	Autosomal recessive inheritance
OMIM:214950	AMACR	23600	HP:0003256	Abnormality of the coagulation cascade
OMIM:214950	AMACR	23600	HP:0001508	Failure to thrive
OMIM:214950	AMACR	23600	HP:0002240	Hepatomegaly
OMIM:214950	AMACR	23600	HP:0002630	Fat malabsorption
OMIM:214950	AMACR	23600	HP:0001399	Hepatic failure
OMIM:214950	AMACR	23600	HP:0003623	Neonatal onset
OMIM:214950	AMACR	23600	HP:0200084	Giant cell hepatitis
OMIM:214950	AMACR	23600	HP:0006579	Prolonged neonatal jaundice
OMIM:214950	AMACR	23600	HP:0002904	Hyperbilirubinemia
OMIM:214950	AMACR	23600	HP:0002910	Elevated hepatic transaminases
OMIM:277610	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:277610	COL11A2	1302	HP:0000316	Hypertelorism
OMIM:277610	COL11A2	1302	HP:0000947	Dumbbell-shaped long bone
OMIM:277610	COL11A2	1302	HP:0001263	Global developmental delay
OMIM:277610	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:277610	COL11A2	1302	HP:0000175	Cleft palate
OMIM:277610	COL11A2	1302	HP:0008905	Rhizomelia
OMIM:277610	COL11A2	1302	HP:0010580	Enlarged epiphyses
OMIM:277610	COL11A2	1302	HP:0003417	Coronal cleft vertebrae
OMIM:277610	COL11A2	1302	HP:0000520	Proptosis
OMIM:277610	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:277610	COL11A2	1302	HP:0000347	Micrognathia
OMIM:277610	COL11A2	1302	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:277610	COL11A2	1302	HP:0005280	Depressed nasal bridge
ORPHA:93328	FZD2	2535	HP:0000028	Cryptorchidism
ORPHA:93328	FZD2	2535	HP:0005792	Short humerus
ORPHA:93328	FZD2	2535	HP:0000048	Bifid scrotum
ORPHA:93328	FZD2	2535	HP:0003196	Short nose
ORPHA:93328	FZD2	2535	HP:0000343	Long philtrum
ORPHA:93328	FZD2	2535	HP:0010034	Short 1st metacarpal
ORPHA:93328	FZD2	2535	HP:0002007	Frontal bossing
ORPHA:93328	FZD2	2535	HP:0008736	Hypoplasia of penis
ORPHA:93328	FZD2	2535	HP:0000272	Malar flattening
ORPHA:93328	FZD2	2535	HP:0003042	Elbow dislocation
ORPHA:93328	FZD2	2535	HP:0008905	Rhizomelia
ORPHA:93328	FZD2	2535	HP:0000316	Hypertelorism
ORPHA:93328	FZD2	2535	HP:0005280	Depressed nasal bridge
OMIM:300558	PAK3	5063	HP:0000400	Macrotia
OMIM:300558	PAK3	5063	HP:0002307	Drooling
OMIM:300558	PAK3	5063	HP:0000713	Agitation
OMIM:300558	PAK3	5063	HP:0000219	Thin upper lip vermilion
OMIM:300558	PAK3	5063	HP:0000718	Aggressive behavior
OMIM:300558	PAK3	5063	HP:0000736	Short attention span
OMIM:300558	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300558	PAK3	5063	HP:0003196	Short nose
OMIM:300558	PAK3	5063	HP:0001250	Seizures
OMIM:300558	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300558	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300558	PAK3	5063	HP:0000194	Open mouth
OMIM:300558	PAK3	5063	HP:0003828	Variable expressivity
OMIM:300558	PAK3	5063	HP:0002194	Delayed gross motor development
OMIM:300558	PAK3	5063	HP:0012368	Flat face
OMIM:300558	PAK3	5063	HP:0000463	Anteverted nares
OMIM:300558	PAK3	5063	HP:0000709	Psychosis
OMIM:300558	PAK3	5063	HP:0000252	Microcephaly
OMIM:300558	PAK3	5063	HP:0000218	High palate
OMIM:300558	PAK3	5063	HP:0000752	Hyperactivity
OMIM:300558	PAK3	5063	HP:0000739	Anxiety
OMIM:256500	SPINK5	11005	HP:0002719	Recurrent infections
OMIM:256500	SPINK5	11005	HP:0100665	Angioedema
OMIM:256500	SPINK5	11005	HP:0002209	Sparse scalp hair
OMIM:256500	SPINK5	11005	HP:0003212	Increased IgE level
OMIM:256500	SPINK5	11005	HP:0001025	Urticaria
OMIM:256500	SPINK5	11005	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:256500	SPINK5	11005	HP:0000535	Sparse and thin eyebrow
OMIM:256500	SPINK5	11005	HP:0000007	Autosomal recessive inheritance
OMIM:256500	SPINK5	11005	HP:0002099	Asthma
OMIM:256500	SPINK5	11005	HP:0011473	Villous atrophy
OMIM:256500	SPINK5	11005	HP:0001019	Erythroderma
OMIM:256500	SPINK5	11005	HP:0004906	Hypernatremic dehydration
OMIM:256500	SPINK5	11005	HP:0003011	Abnormality of the musculature
OMIM:256500	SPINK5	11005	HP:0003193	Allergic rhinitis
OMIM:256500	SPINK5	11005	HP:0001263	Global developmental delay
OMIM:256500	SPINK5	11005	HP:0001508	Failure to thrive
OMIM:256500	SPINK5	11005	HP:0002299	Brittle hair
OMIM:614455	INF2	64423	HP:0000093	Proteinuria
OMIM:614455	INF2	64423	HP:0009027	Foot dorsiflexor weakness
OMIM:614455	INF2	64423	HP:0000006	Autosomal dominant inheritance
OMIM:614455	INF2	64423	HP:0001765	Hammertoe
OMIM:614455	INF2	64423	HP:0008944	Distal lower limb amyotrophy
OMIM:614455	INF2	64423	HP:0001171	Split hand
OMIM:614455	INF2	64423	HP:0002460	Distal muscle weakness
OMIM:614455	INF2	64423	HP:0003447	Axonal loss
OMIM:614455	INF2	64423	HP:0001265	Hyporeflexia
OMIM:614455	INF2	64423	HP:0003676	Progressive
OMIM:614455	INF2	64423	HP:0003383	Onion bulb formation
OMIM:614455	INF2	64423	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614455	INF2	64423	HP:0007149	Distal upper limb amyotrophy
OMIM:614455	INF2	64423	HP:0003376	Steppage gait
OMIM:614455	INF2	64423	HP:0001761	Pes cavus
OMIM:614455	INF2	64423	HP:0001284	Areflexia
OMIM:614455	INF2	64423	HP:0002936	Distal sensory impairment
ORPHA:79408	MMP1	4312	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:79408	MMP1	4312	HP:0000939	Osteoporosis
ORPHA:79408	MMP1	4312	HP:0000989	Pruritus
ORPHA:79408	MMP1	4312	HP:0004378	Abnormality of the anus
ORPHA:79408	MMP1	4312	HP:0008066	Abnormal blistering of the skin
ORPHA:79408	MMP1	4312	HP:0000656	Ectropion
ORPHA:79408	MMP1	4312	HP:0200020	Corneal erosion
ORPHA:79408	MMP1	4312	HP:0000670	Carious teeth
ORPHA:79408	MMP1	4312	HP:0010296	Ankyloglossia
ORPHA:79408	MMP1	4312	HP:0011457	Loss of eyelashes
ORPHA:79408	MMP1	4312	HP:0001802	Absent toenail
ORPHA:79408	MMP1	4312	HP:0004334	Dermal atrophy
ORPHA:79408	MMP1	4312	HP:0002015	Dysphagia
ORPHA:79408	MMP1	4312	HP:0005505	Refractory anemia
ORPHA:79408	MMP1	4312	HP:0000160	Narrow mouth
ORPHA:79408	MMP1	4312	HP:0001056	Milia
ORPHA:79408	MMP1	4312	HP:0002043	Esophageal stricture
ORPHA:79408	MMP1	4312	HP:0002019	Constipation
ORPHA:79408	MMP1	4312	HP:0004057	Mitten deformity
ORPHA:79408	MMP1	4312	HP:0000938	Osteopenia
ORPHA:79408	MMP1	4312	HP:0000529	Progressive visual loss
ORPHA:79408	MMP1	4312	HP:0001371	Flexion contracture
ORPHA:79408	MMP1	4312	HP:0000823	Delayed puberty
ORPHA:79408	MMP1	4312	HP:0000498	Blepharitis
ORPHA:79408	MMP1	4312	HP:0001817	Absent fingernail
ORPHA:79408	MMP1	4312	HP:0004552	Scarring alopecia of scalp
ORPHA:79408	COL7A1	1294	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:79408	COL7A1	1294	HP:0000939	Osteoporosis
ORPHA:79408	COL7A1	1294	HP:0000989	Pruritus
ORPHA:79408	COL7A1	1294	HP:0004378	Abnormality of the anus
ORPHA:79408	COL7A1	1294	HP:0008066	Abnormal blistering of the skin
ORPHA:79408	COL7A1	1294	HP:0000656	Ectropion
ORPHA:79408	COL7A1	1294	HP:0200020	Corneal erosion
ORPHA:79408	COL7A1	1294	HP:0000670	Carious teeth
ORPHA:79408	COL7A1	1294	HP:0010296	Ankyloglossia
ORPHA:79408	COL7A1	1294	HP:0011457	Loss of eyelashes
ORPHA:79408	COL7A1	1294	HP:0001802	Absent toenail
ORPHA:79408	COL7A1	1294	HP:0004334	Dermal atrophy
ORPHA:79408	COL7A1	1294	HP:0002015	Dysphagia
ORPHA:79408	COL7A1	1294	HP:0005505	Refractory anemia
ORPHA:79408	COL7A1	1294	HP:0000160	Narrow mouth
ORPHA:79408	COL7A1	1294	HP:0001056	Milia
ORPHA:79408	COL7A1	1294	HP:0002043	Esophageal stricture
ORPHA:79408	COL7A1	1294	HP:0002019	Constipation
ORPHA:79408	COL7A1	1294	HP:0004057	Mitten deformity
ORPHA:79408	COL7A1	1294	HP:0000938	Osteopenia
ORPHA:79408	COL7A1	1294	HP:0000529	Progressive visual loss
ORPHA:79408	COL7A1	1294	HP:0001371	Flexion contracture
ORPHA:79408	COL7A1	1294	HP:0000823	Delayed puberty
ORPHA:79408	COL7A1	1294	HP:0000498	Blepharitis
ORPHA:79408	COL7A1	1294	HP:0001817	Absent fingernail
ORPHA:79408	COL7A1	1294	HP:0004552	Scarring alopecia of scalp
OMIM:612158	ACTN2	88	HP:0006685	Endocardial fibrosis
OMIM:612158	ACTN2	88	HP:0003812	Phenotypic variability
OMIM:612158	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:612158	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:612158	ACTN2	88	HP:0001706	Endocardial fibroelastosis
OMIM:127750	SNCB	6620	HP:0000006	Autosomal dominant inheritance
OMIM:127750	SNCB	6620	HP:0000726	Dementia
OMIM:127750	SNCB	6620	HP:0002367	Visual hallucinations
OMIM:127750	SNCB	6620	HP:0000746	Delusions
OMIM:127750	SNCB	6620	HP:0001300	Parkinsonism
OMIM:127750	SNCB	6620	HP:0007159	Fluctuations in consciousness
OMIM:127750	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:127750	SNCA	6622	HP:0000726	Dementia
OMIM:127750	SNCA	6622	HP:0002367	Visual hallucinations
OMIM:127750	SNCA	6622	HP:0000746	Delusions
OMIM:127750	SNCA	6622	HP:0001300	Parkinsonism
OMIM:127750	SNCA	6622	HP:0007159	Fluctuations in consciousness
OMIM:613550	TMEM67	91147	HP:0001959	Polydipsia
OMIM:613550	TMEM67	91147	HP:0000108	Renal corticomedullary cysts
OMIM:613550	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:613550	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:613550	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:613550	TMEM67	91147	HP:0003774	Stage 5 chronic kidney disease
OMIM:613550	TMEM67	91147	HP:0005583	Tubular basement membrane disintegration
OMIM:613550	TMEM67	91147	HP:0001510	Growth delay
OMIM:613550	TMEM67	91147	HP:0000103	Polyuria
OMIM:613550	TMEM67	91147	HP:0000092	Tubular atrophy
OMIM:613550	TMEM67	91147	HP:0001903	Anemia
OMIM:616843	PIEZO1	9780	HP:0000034	Hydrocele testis
OMIM:616843	PIEZO1	9780	HP:0000465	Webbed neck
OMIM:616843	PIEZO1	9780	HP:0001744	Splenomegaly
OMIM:616843	PIEZO1	9780	HP:0031188	Genital edema
OMIM:616843	PIEZO1	9780	HP:0000821	Hypothyroidism
OMIM:616843	PIEZO1	9780	HP:0001004	Lymphedema
OMIM:616843	PIEZO1	9780	HP:0000767	Pectus excavatum
OMIM:616843	PIEZO1	9780	HP:0001541	Ascites
OMIM:616843	PIEZO1	9780	HP:0002650	Scoliosis
OMIM:616843	PIEZO1	9780	HP:0000378	Cupped ear
OMIM:616843	PIEZO1	9780	HP:0000365	Hearing impairment
OMIM:616843	PIEZO1	9780	HP:0007430	Generalized edema
OMIM:616843	PIEZO1	9780	HP:0001790	Nonimmune hydrops fetalis
OMIM:616843	PIEZO1	9780	HP:0000007	Autosomal recessive inheritance
OMIM:616843	PIEZO1	9780	HP:0000282	Facial edema
OMIM:616843	PIEZO1	9780	HP:0002020	Gastroesophageal reflux
OMIM:616843	PIEZO1	9780	HP:0100539	Periorbital edema
OMIM:616843	PIEZO1	9780	HP:0003812	Phenotypic variability
OMIM:616843	PIEZO1	9780	HP:0002619	Varicose veins
OMIM:616843	PIEZO1	9780	HP:0001263	Global developmental delay
OMIM:616843	PIEZO1	9780	HP:0001561	Polyhydramnios
OMIM:613454	FOXG1	2290	HP:0002305	Athetosis
OMIM:613454	FOXG1	2290	HP:0003763	Bruxism
OMIM:613454	FOXG1	2290	HP:0100660	Dyskinesia
OMIM:613454	FOXG1	2290	HP:0100703	Tongue thrusting
OMIM:613454	FOXG1	2290	HP:0000253	Progressive microcephaly
OMIM:613454	FOXG1	2290	HP:0001762	Talipes equinovarus
OMIM:613454	FOXG1	2290	HP:0002186	Apraxia
OMIM:613454	FOXG1	2290	HP:0009879	Cortical gyral simplification
OMIM:613454	FOXG1	2290	HP:0001250	Seizures
OMIM:613454	FOXG1	2290	HP:0002307	Drooling
OMIM:613454	FOXG1	2290	HP:0002020	Gastroesophageal reflux
OMIM:613454	FOXG1	2290	HP:0002650	Scoliosis
OMIM:613454	FOXG1	2290	HP:0002808	Kyphosis
OMIM:613454	FOXG1	2290	HP:0002019	Constipation
OMIM:613454	FOXG1	2290	HP:0001270	Motor delay
OMIM:613454	FOXG1	2290	HP:0002072	Chorea
OMIM:613454	FOXG1	2290	HP:0001302	Pachygyria
OMIM:613454	FOXG1	2290	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613454	FOXG1	2290	HP:0001332	Dystonia
OMIM:613454	FOXG1	2290	HP:0001763	Pes planus
OMIM:613454	FOXG1	2290	HP:0001257	Spasticity
OMIM:613454	FOXG1	2290	HP:0000817	Poor eye contact
OMIM:613454	FOXG1	2290	HP:0010864	Intellectual disability, severe
OMIM:613454	FOXG1	2290	HP:0000006	Autosomal dominant inheritance
OMIM:613454	FOXG1	2290	HP:0001319	Neonatal hypotonia
OMIM:613454	FOXG1	2290	HP:0003745	Sporadic
OMIM:613454	FOXG1	2290	HP:0012448	Delayed myelination
OMIM:613454	FOXG1	2290	HP:0002353	EEG abnormality
OMIM:610756	ERCC2	2068	HP:0000347	Micrognathia
OMIM:610756	ERCC2	2068	HP:0000518	Cataract
OMIM:610756	ERCC2	2068	HP:0000490	Deeply set eye
OMIM:610756	ERCC2	2068	HP:0003683	Large beaked nose
OMIM:610756	ERCC2	2068	HP:0000054	Micropenis
OMIM:610756	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:610756	ERCC2	2068	HP:0001838	Rocker bottom foot
OMIM:610756	ERCC2	2068	HP:0003819	Death in childhood
OMIM:610756	ERCC2	2068	HP:0000252	Microcephaly
OMIM:610756	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:610756	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC2	2068	HP:0001263	Global developmental delay
OMIM:610756	ERCC2	2068	HP:0001511	Intrauterine growth retardation
OMIM:610756	ERCC2	2068	HP:0100490	Camptodactyly of finger
OMIM:610756	ERCC2	2068	HP:0000365	Hearing impairment
OMIM:610756	ERCC2	2068	HP:0002751	Kyphoscoliosis
OMIM:610756	ERCC2	2068	HP:0000046	Scrotal hypoplasia
OMIM:615031	TECPR2	9895	HP:0000678	Dental crowding
OMIM:615031	TECPR2	9895	HP:0000470	Short neck
OMIM:615031	TECPR2	9895	HP:0001260	Dysarthria
OMIM:615031	TECPR2	9895	HP:0001263	Global developmental delay
OMIM:615031	TECPR2	9895	HP:0001284	Areflexia
OMIM:615031	TECPR2	9895	HP:0001290	Generalized hypotonia
OMIM:615031	TECPR2	9895	HP:0002064	Spastic gait
OMIM:615031	TECPR2	9895	HP:0000294	Low anterior hairline
OMIM:615031	TECPR2	9895	HP:0002059	Cerebral atrophy
OMIM:615031	TECPR2	9895	HP:0000248	Brachycephaly
OMIM:615031	TECPR2	9895	HP:0000338	Hypomimic face
OMIM:615031	TECPR2	9895	HP:0000475	Broad neck
OMIM:615031	TECPR2	9895	HP:0002020	Gastroesophageal reflux
OMIM:615031	TECPR2	9895	HP:0000007	Autosomal recessive inheritance
OMIM:615031	TECPR2	9895	HP:0002871	Central apnea
OMIM:615031	TECPR2	9895	HP:0000311	Round face
OMIM:615031	TECPR2	9895	HP:0002066	Gait ataxia
OMIM:615031	TECPR2	9895	HP:0004322	Short stature
OMIM:615031	TECPR2	9895	HP:0000252	Microcephaly
OMIM:615031	TECPR2	9895	HP:0001258	Spastic paraplegia
OMIM:615031	TECPR2	9895	HP:0001310	Dysmetria
OMIM:615031	TECPR2	9895	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612997	CATSPER2	117155	HP:0012208	Nonmotile sperm
OMIM:612997	CATSPER2	117155	HP:0012207	Reduced sperm motility
OMIM:612997	CATSPER2	117155	HP:0000007	Autosomal recessive inheritance
OMIM:612997	CATSPER2	117155	HP:0003251	Male infertility
OMIM:612997	CATSPER2	117155	HP:0000798	Oligospermia
OMIM:612997	CATSPER1	117144	HP:0012208	Nonmotile sperm
OMIM:612997	CATSPER1	117144	HP:0012207	Reduced sperm motility
OMIM:612997	CATSPER1	117144	HP:0000007	Autosomal recessive inheritance
OMIM:612997	CATSPER1	117144	HP:0003251	Male infertility
OMIM:612997	CATSPER1	117144	HP:0000798	Oligospermia
OMIM:612997	STRC	161497	HP:0012208	Nonmotile sperm
OMIM:612997	STRC	161497	HP:0012207	Reduced sperm motility
OMIM:612997	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:612997	STRC	161497	HP:0003251	Male infertility
OMIM:612997	STRC	161497	HP:0000798	Oligospermia
OMIM:617186	NAXE	128240	HP:0000486	Strabismus
OMIM:617186	NAXE	128240	HP:0001250	Seizures
OMIM:617186	NAXE	128240	HP:0012444	Brain atrophy
OMIM:617186	NAXE	128240	HP:0002352	Leukoencephalopathy
OMIM:617186	NAXE	128240	HP:0002376	Developmental regression
OMIM:617186	NAXE	128240	HP:0002151	Increased serum lactate
OMIM:617186	NAXE	128240	HP:0000007	Autosomal recessive inheritance
OMIM:617186	NAXE	128240	HP:0002273	Tetraparesis
OMIM:617186	NAXE	128240	HP:0002490	Increased CSF lactate
OMIM:617186	NAXE	128240	HP:0001259	Coma
OMIM:617186	NAXE	128240	HP:0002181	Cerebral edema
OMIM:617186	NAXE	128240	HP:0003128	Lactic acidosis
OMIM:617186	NAXE	128240	HP:0030915	Cerebellar edema
OMIM:617186	NAXE	128240	HP:0001251	Ataxia
OMIM:617186	NAXE	128240	HP:0000639	Nystagmus
OMIM:617186	NAXE	128240	HP:0001522	Death in infancy
OMIM:617186	NAXE	128240	HP:0001337	Tremor
OMIM:617186	NAXE	128240	HP:0003678	Rapidly progressive
OMIM:617186	NAXE	128240	HP:0001290	Generalized hypotonia
OMIM:617186	NAXE	128240	HP:0200041	Skin erosion
OMIM:200100	MTTP	4547	HP:0000007	Autosomal recessive inheritance
OMIM:200100	MTTP	4547	HP:0011096	Peripheral demyelination
OMIM:200100	MTTP	4547	HP:0000488	Retinopathy
OMIM:200100	MTTP	4547	HP:0002630	Fat malabsorption
OMIM:200100	MTTP	4547	HP:0001251	Ataxia
OMIM:200100	MTTP	4547	HP:0008181	Abetalipoproteinemia
OMIM:200100	MTTP	4547	HP:0001146	Pigmentary retinal degeneration
OMIM:200100	MTTP	4547	HP:0001927	Acanthocytosis
OMIM:200100	MTTP	4547	HP:0007305	CNS demyelination
OMIM:133700	EXT1	2131	HP:0003105	Protuberances at ends of long bones
OMIM:133700	EXT1	2131	HP:0003621	Juvenile onset
OMIM:133700	EXT1	2131	HP:0004322	Short stature
OMIM:133700	EXT1	2131	HP:0006765	Chondrosarcoma
OMIM:133700	EXT1	2131	HP:0003406	Peripheral nerve compression
OMIM:133700	EXT1	2131	HP:0000896	Rib exostoses
OMIM:133700	EXT1	2131	HP:0002857	Genu valgum
OMIM:133700	EXT1	2131	HP:0002812	Coxa vara
OMIM:133700	EXT1	2131	HP:0010049	Short metacarpal
OMIM:133700	EXT1	2131	HP:0002318	Cervical myelopathy
OMIM:133700	EXT1	2131	HP:0001760	Abnormality of the foot
OMIM:133700	EXT1	2131	HP:0003068	Madelung-like forearm deformities
OMIM:133700	EXT1	2131	HP:0003276	Pelvic bone exostoses
OMIM:133700	EXT1	2131	HP:0000006	Autosomal dominant inheritance
OMIM:133700	EXT1	2131	HP:0000918	Scapular exostoses
OMIM:612702	FGF8	2253	HP:0000054	Micropenis
OMIM:612702	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FGF8	2253	HP:0012506	Small pituitary gland
OMIM:612702	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:612702	FGF8	2253	HP:0000218	High palate
OMIM:612702	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:612702	FGF8	2253	HP:0002750	Delayed skeletal maturation
ORPHA:79302	CYP7B1	9420	HP:0002240	Hepatomegaly
ORPHA:79302	CYP7B1	9420	HP:0002612	Congenital hepatic fibrosis
ORPHA:79302	CYP7B1	9420	HP:0000989	Pruritus
ORPHA:79302	CYP7B1	9420	HP:0001080	Biliary tract abnormality
ORPHA:79302	CYP7B1	9420	HP:0001399	Hepatic failure
ORPHA:79302	CYP7B1	9420	HP:0001928	Abnormality of coagulation
ORPHA:79302	CYP7B1	9420	HP:0002239	Gastrointestinal hemorrhage
ORPHA:79302	CYP7B1	9420	HP:0000952	Jaundice
ORPHA:79302	CYP7B1	9420	HP:0001744	Splenomegaly
ORPHA:79302	CYP7B1	9420	HP:0002910	Elevated hepatic transaminases
ORPHA:79302	CYP7B1	9420	HP:0006566	Neonatal cholestatic liver disease
OMIM:137750	MYOC	4653	HP:0007905	Abnormal iris vasculature
OMIM:137750	MYOC	4653	HP:0000501	Glaucoma
OMIM:137750	MYOC	4653	HP:0000545	Myopia
OMIM:137750	MYOC	4653	HP:0000006	Autosomal dominant inheritance
OMIM:108500	CACNA1A	773	HP:0010545	Downbeat nystagmus
OMIM:108500	CACNA1A	773	HP:0000360	Tinnitus
OMIM:108500	CACNA1A	773	HP:0001332	Dystonia
OMIM:108500	CACNA1A	773	HP:0002486	Myotonia
OMIM:108500	CACNA1A	773	HP:0002073	Progressive cerebellar ataxia
OMIM:108500	CACNA1A	773	HP:0002321	Vertigo
OMIM:108500	CACNA1A	773	HP:0002076	Migraine
OMIM:108500	CACNA1A	773	HP:0001751	Vestibular dysfunction
OMIM:108500	CACNA1A	773	HP:0003401	Paresthesia
OMIM:108500	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:108500	CACNA1A	773	HP:0002131	Episodic ataxia
OMIM:108500	CACNA1A	773	HP:0001260	Dysarthria
OMIM:108500	CACNA1A	773	HP:0001324	Muscle weakness
OMIM:108500	CACNA1A	773	HP:0003829	Incomplete penetrance
OMIM:108500	CACNA1A	773	HP:0001152	Saccadic smooth pursuit
OMIM:108500	CACNA1A	773	HP:0006855	Cerebellar vermis atrophy
OMIM:108500	CACNA1A	773	HP:0000640	Gaze-evoked nystagmus
OMIM:108500	CACNA1A	773	HP:0000651	Diplopia
OMIM:253270	HLCS	3141	HP:0000007	Autosomal recessive inheritance
OMIM:253270	HLCS	3141	HP:0001250	Seizures
OMIM:253270	HLCS	3141	HP:0001263	Global developmental delay
OMIM:253270	HLCS	3141	HP:0002789	Tachypnea
OMIM:253270	HLCS	3141	HP:0000988	Skin rash
OMIM:253270	HLCS	3141	HP:0001254	Lethargy
OMIM:253270	HLCS	3141	HP:0001942	Metabolic acidosis
OMIM:253270	HLCS	3141	HP:0001259	Coma
OMIM:253270	HLCS	3141	HP:0001992	Organic aciduria
OMIM:253270	HLCS	3141	HP:0002883	Hyperventilation
OMIM:253270	HLCS	3141	HP:0001290	Generalized hypotonia
OMIM:253270	HLCS	3141	HP:0008872	Feeding difficulties in infancy
OMIM:253270	HLCS	3141	HP:0001596	Alopecia
OMIM:253270	HLCS	3141	HP:0001987	Hyperammonemia
OMIM:253270	HLCS	3141	HP:0002013	Vomiting
OMIM:253270	HLCS	3141	HP:0001873	Thrombocytopenia
OMIM:253270	HLCS	3141	HP:0000737	Irritability
OMIM:253270	HLCS	3141	HP:0001276	Hypertonia
OMIM:617237	BCL11B	64919	HP:0001537	Umbilical hernia
OMIM:617237	BCL11B	64919	HP:0002510	Spastic tetraplegia
OMIM:617237	BCL11B	64919	HP:0003577	Congenital onset
OMIM:617237	BCL11B	64919	HP:0001290	Generalized hypotonia
OMIM:617237	BCL11B	64919	HP:0001007	Hirsutism
OMIM:617237	BCL11B	64919	HP:0001344	Absent speech
OMIM:617237	BCL11B	64919	HP:0002645	Wormian bones
OMIM:617237	BCL11B	64919	HP:0012745	Short palpebral fissure
OMIM:617237	BCL11B	64919	HP:0001249	Intellectual disability
OMIM:617237	BCL11B	64919	HP:0000316	Hypertelorism
OMIM:617237	BCL11B	64919	HP:0000006	Autosomal dominant inheritance
OMIM:617237	BCL11B	64919	HP:0004430	Severe combined immunodeficiency
OMIM:617237	BCL11B	64919	HP:0011123	Inflammatory abnormality of the skin
OMIM:617237	BCL11B	64919	HP:0000695	Natal tooth
OMIM:617237	BCL11B	64919	HP:0004415	Pulmonary artery stenosis
OMIM:617237	BCL11B	64919	HP:0001250	Seizures
OMIM:617237	BCL11B	64919	HP:0000347	Micrognathia
OMIM:617237	BCL11B	64919	HP:0001263	Global developmental delay
OMIM:188550	PCM1	5108	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	PCM1	5108	HP:0000006	Autosomal dominant inheritance
OMIM:188550	PCM1	5108	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	PRKAR1A	5573	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:188550	PRKAR1A	5573	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TRIM24	8805	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	TRIM24	8805	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TRIM24	8805	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TRIM33	51592	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	TRIM33	51592	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TRIM33	51592	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	CCDC6	8030	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	CCDC6	8030	HP:0000006	Autosomal dominant inheritance
OMIM:188550	CCDC6	8030	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	GOLGA5	9950	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	GOLGA5	9950	HP:0000006	Autosomal dominant inheritance
OMIM:188550	GOLGA5	9950	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NCOA4	8031	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188550	NCOA4	8031	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NCOA4	8031	HP:0002895	Papillary thyroid carcinoma
OMIM:615909	RPS29	6235	HP:0003828	Variable expressivity
OMIM:615909	RPS29	6235	HP:0011463	Childhood onset
OMIM:615909	RPS29	6235	HP:0001897	Normocytic anemia
OMIM:615909	RPS29	6235	HP:0030270	Elevated red cell adenosine deaminase activity
OMIM:615909	RPS29	6235	HP:0003829	Incomplete penetrance
OMIM:615909	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:614857	ABCD4	5826	HP:0001873	Thrombocytopenia
OMIM:614857	ABCD4	5826	HP:0001875	Neutropenia
OMIM:614857	ABCD4	5826	HP:0001903	Anemia
OMIM:614857	ABCD4	5826	HP:0012120	Methylmalonic aciduria
OMIM:614857	ABCD4	5826	HP:0000007	Autosomal recessive inheritance
OMIM:614857	ABCD4	5826	HP:0002160	Hyperhomocystinemia
OMIM:614857	ABCD4	5826	HP:0001290	Generalized hypotonia
OMIM:614857	ABCD4	5826	HP:0003145	Decreased adenosylcobalamin
OMIM:614857	ABCD4	5826	HP:0002789	Tachypnea
OMIM:614857	ABCD4	5826	HP:0011968	Feeding difficulties
OMIM:614857	ABCD4	5826	HP:0003577	Congenital onset
OMIM:614857	ABCD4	5826	HP:0000023	Inguinal hernia
OMIM:614857	ABCD4	5826	HP:0001254	Lethargy
OMIM:614857	ABCD4	5826	HP:0001510	Growth delay
OMIM:614857	ABCD4	5826	HP:0002912	Methylmalonic acidemia
OMIM:614857	ABCD4	5826	HP:0002533	Abnormal posturing
OMIM:614857	ABCD4	5826	HP:0002156	Homocystinuria
OMIM:615779	NR2F2	7026	HP:0001636	Tetralogy of Fallot
OMIM:615779	NR2F2	7026	HP:0000006	Autosomal dominant inheritance
OMIM:615779	NR2F2	7026	HP:0004383	Hypoplastic left heart
OMIM:615779	NR2F2	7026	HP:0006695	Atrioventricular canal defect
OMIM:615779	NR2F2	7026	HP:0001680	Coarctation of aorta
OMIM:615779	NR2F2	7026	HP:0001650	Aortic valve stenosis
OMIM:615779	NR2F2	7026	HP:0001629	Ventricular septal defect
OMIM:613573	NECTIN4	81607	HP:0001792	Small nail
OMIM:613573	NECTIN4	81607	HP:0002232	Patchy alopecia
OMIM:613573	NECTIN4	81607	HP:0000698	Conical tooth
OMIM:613573	NECTIN4	81607	HP:0000535	Sparse and thin eyebrow
OMIM:613573	NECTIN4	81607	HP:0001800	Hypoplastic toenails
OMIM:613573	NECTIN4	81607	HP:0003777	Pili torti
OMIM:613573	NECTIN4	81607	HP:0010765	Palmar hyperkeratosis
OMIM:613573	NECTIN4	81607	HP:0002208	Coarse hair
OMIM:613573	NECTIN4	81607	HP:0006297	Hypoplasia of dental enamel
OMIM:613573	NECTIN4	81607	HP:0005709	2-3 toe cutaneous syndactyly
OMIM:613573	NECTIN4	81607	HP:0002209	Sparse scalp hair
OMIM:613573	NECTIN4	81607	HP:0000653	Sparse eyelashes
OMIM:613573	NECTIN4	81607	HP:0000687	Widely spaced teeth
OMIM:613573	NECTIN4	81607	HP:0002550	Absent facial hair
OMIM:613573	NECTIN4	81607	HP:0010554	Cutaneous finger syndactyly
OMIM:613573	NECTIN4	81607	HP:0000007	Autosomal recessive inheritance
OMIM:613573	NECTIN4	81607	HP:0000968	Ectodermal dysplasia
ORPHA:79321	ALG3	10195	HP:0000252	Microcephaly
ORPHA:79321	ALG3	10195	HP:0001250	Seizures
ORPHA:79321	ALG3	10195	HP:0001252	Muscular hypotonia
ORPHA:79321	ALG3	10195	HP:0000504	Abnormality of vision
ORPHA:79321	ALG3	10195	HP:0001263	Global developmental delay
OMIM:304790	FOXP3	50943	HP:0003828	Variable expressivity
OMIM:304790	FOXP3	50943	HP:0000964	Eczema
OMIM:304790	FOXP3	50943	HP:0000821	Hypothyroidism
OMIM:304790	FOXP3	50943	HP:0100651	Type I diabetes mellitus
OMIM:304790	FOXP3	50943	HP:0011473	Villous atrophy
OMIM:304790	FOXP3	50943	HP:0001890	Autoimmune hemolytic anemia
OMIM:304790	FOXP3	50943	HP:0002014	Diarrhea
OMIM:304790	FOXP3	50943	HP:0001880	Eosinophilia
OMIM:304790	FOXP3	50943	HP:0002595	Ileus
OMIM:304790	FOXP3	50943	HP:0002716	Lymphadenopathy
OMIM:304790	FOXP3	50943	HP:0001419	X-linked recessive inheritance
OMIM:304790	FOXP3	50943	HP:0001873	Thrombocytopenia
OMIM:304790	FOXP3	50943	HP:0002958	Immune dysregulation
ORPHA:50814	SEC23A	10484	HP:0000685	Hypoplasia of teeth
ORPHA:50814	SEC23A	10484	HP:0000327	Hypoplasia of the maxilla
ORPHA:50814	SEC23A	10484	HP:0008444	Posterior wedging of vertebral bodies
ORPHA:50814	SEC23A	10484	HP:0004331	Decreased skull ossification
ORPHA:50814	SEC23A	10484	HP:0006480	Premature loss of teeth
ORPHA:50814	SEC23A	10484	HP:0000336	Prominent supraorbital ridges
ORPHA:50814	SEC23A	10484	HP:0005306	Capillary hemangiomas
ORPHA:50814	SEC23A	10484	HP:0000445	Wide nose
ORPHA:50814	SEC23A	10484	HP:0000154	Wide mouth
ORPHA:50814	SEC23A	10484	HP:0002652	Skeletal dysplasia
ORPHA:50814	SEC23A	10484	HP:0000684	Delayed eruption of teeth
ORPHA:50814	SEC23A	10484	HP:0000239	Large fontanelles
ORPHA:50814	SEC23A	10484	HP:0000774	Narrow chest
ORPHA:50814	SEC23A	10484	HP:0002007	Frontal bossing
ORPHA:50814	SEC23A	10484	HP:0002208	Coarse hair
ORPHA:50814	SEC23A	10484	HP:0000319	Smooth philtrum
ORPHA:50814	SEC23A	10484	HP:0000343	Long philtrum
ORPHA:50814	SEC23A	10484	HP:0002299	Brittle hair
ORPHA:50814	SEC23A	10484	HP:0000316	Hypertelorism
ORPHA:50814	SEC23A	10484	HP:0001763	Pes planus
ORPHA:50814	SEC23A	10484	HP:0000233	Thin vermilion border
ORPHA:50814	SEC23A	10484	HP:0004322	Short stature
ORPHA:50814	SEC23A	10484	HP:0000691	Microdontia
ORPHA:50814	SEC23A	10484	HP:0002650	Scoliosis
ORPHA:50814	SEC23A	10484	HP:0000426	Prominent nasal bridge
ORPHA:50814	SEC23A	10484	HP:0000670	Carious teeth
ORPHA:50814	SEC23A	10484	HP:0008808	High iliac wings
ORPHA:50814	SEC23A	10484	HP:0008031	Posterior Y-sutural cataract
ORPHA:50814	SEC23A	10484	HP:0000953	Hyperpigmentation of the skin
ORPHA:50814	SEC23A	10484	HP:0008070	Sparse hair
OMIM:609460	KIF1BP	26128	HP:0000664	Synophrys
OMIM:609460	KIF1BP	26128	HP:0000007	Autosomal recessive inheritance
OMIM:609460	KIF1BP	26128	HP:0000252	Microcephaly
OMIM:609460	KIF1BP	26128	HP:0000322	Short philtrum
OMIM:609460	KIF1BP	26128	HP:0001302	Pachygyria
OMIM:609460	KIF1BP	26128	HP:0001263	Global developmental delay
OMIM:609460	KIF1BP	26128	HP:0000327	Hypoplasia of the maxilla
OMIM:609460	KIF1BP	26128	HP:0030084	Clinodactyly
OMIM:609460	KIF1BP	26128	HP:0000506	Telecanthus
OMIM:609460	KIF1BP	26128	HP:0000494	Downslanted palpebral fissures
OMIM:609460	KIF1BP	26128	HP:0000414	Bulbous nose
OMIM:609460	KIF1BP	26128	HP:0003577	Congenital onset
OMIM:609460	KIF1BP	26128	HP:0006610	Wide intermamillary distance
OMIM:609460	KIF1BP	26128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:609460	KIF1BP	26128	HP:0001249	Intellectual disability
OMIM:609460	KIF1BP	26128	HP:0001290	Generalized hypotonia
OMIM:609460	KIF1BP	26128	HP:0002251	Aganglionic megacolon
OMIM:609460	KIF1BP	26128	HP:0000592	Blue sclerae
OMIM:609460	KIF1BP	26128	HP:0000508	Ptosis
OMIM:609460	KIF1BP	26128	HP:0012804	Corneal ulceration
OMIM:609460	KIF1BP	26128	HP:0200020	Corneal erosion
OMIM:609460	KIF1BP	26128	HP:0000470	Short neck
OMIM:609460	KIF1BP	26128	HP:0200055	Small hand
OMIM:609460	KIF1BP	26128	HP:0000232	Everted lower lip vermilion
OMIM:609460	KIF1BP	26128	HP:0000485	Megalocornea
OMIM:609460	KIF1BP	26128	HP:0000574	Thick eyebrow
OMIM:609460	KIF1BP	26128	HP:0002126	Polymicrogyria
OMIM:609460	KIF1BP	26128	HP:0008070	Sparse hair
OMIM:609460	KIF1BP	26128	HP:0001182	Tapered finger
OMIM:609460	KIF1BP	26128	HP:0002365	Hypoplasia of the brainstem
OMIM:609460	KIF1BP	26128	HP:0012471	Thick vermilion border
OMIM:609460	KIF1BP	26128	HP:0000369	Low-set ears
OMIM:609460	KIF1BP	26128	HP:0002553	Highly arched eyebrow
OMIM:609460	KIF1BP	26128	HP:0000431	Wide nasal bridge
OMIM:609460	KIF1BP	26128	HP:0000426	Prominent nasal bridge
OMIM:614018	GOSR2	9570	HP:0001336	Myoclonus
OMIM:614018	GOSR2	9570	HP:0010819	Atonic seizures
OMIM:614018	GOSR2	9570	HP:0001251	Ataxia
OMIM:614018	GOSR2	9570	HP:0002650	Scoliosis
OMIM:614018	GOSR2	9570	HP:0000007	Autosomal recessive inheritance
OMIM:614018	GOSR2	9570	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614018	GOSR2	9570	HP:0001284	Areflexia
OMIM:614018	GOSR2	9570	HP:0001337	Tremor
OMIM:614018	GOSR2	9570	HP:0002355	Difficulty walking
OMIM:614018	GOSR2	9570	HP:0002121	Absence seizures
OMIM:614018	GOSR2	9570	HP:0001260	Dysarthria
OMIM:614018	GOSR2	9570	HP:0003676	Progressive
OMIM:233700	NCF1	653361	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	NCF1	653361	HP:0005224	Rectal abscess
OMIM:233700	NCF1	653361	HP:0002840	Lymphadenitis
OMIM:233700	NCF1	653361	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	NCF1	653361	HP:0002754	Osteomyelitis
OMIM:233700	NCF1	653361	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	NCF1	653361	HP:0002716	Lymphadenopathy
OMIM:233700	NCF1	653361	HP:0007417	Discoid lupus rash
OMIM:233700	NCF1	653361	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	NCF1	653361	HP:0006532	Recurrent pneumonia
OMIM:233700	NCF1	653361	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	NCF1	653361	HP:0002955	Granulomatosis
OMIM:233700	NCF1	653361	HP:0003621	Juvenile onset
OMIM:233700	NCF1	653361	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233700	NCF1	653361	HP:0002740	Recurrent E. coli infections
OMIM:233700	NCF1	653361	HP:0000976	Eczematoid dermatitis
OMIM:233700	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:233700	NCF1	653361	HP:0002240	Hepatomegaly
OMIM:233700	NCF1	653361	HP:0100523	Liver abscess
OMIM:233700	NCF1	653361	HP:0100658	Cellulitis
OMIM:233700	NCF1	653361	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	NCF1	653361	HP:0001744	Splenomegaly
OMIM:233700	NCF1	653361	HP:0003203	Negative nitroblue tetrazolium reduction test
OMIM:233700	NCF1	653361	HP:0005406	Recurrent bacterial skin infections
OMIM:184500	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:184500	KRT17	3872	HP:0012035	Steatocystoma multiplex
OMIM:616922	PDE10A	10846	HP:0001268	Mental deterioration
OMIM:616922	PDE10A	10846	HP:0001300	Parkinsonism
OMIM:616922	PDE10A	10846	HP:0003680	Nonprogressive
OMIM:616922	PDE10A	10846	HP:0010994	Abnormality of the striatum
OMIM:616922	PDE10A	10846	HP:0000006	Autosomal dominant inheritance
OMIM:616922	PDE10A	10846	HP:0001249	Intellectual disability
OMIM:616922	PDE10A	10846	HP:0002072	Chorea
OMIM:615400	CNTN2	6900	HP:0001250	Seizures
OMIM:615400	CNTN2	6900	HP:0002069	Generalized tonic-clonic seizures
OMIM:615400	CNTN2	6900	HP:0001337	Tremor
OMIM:615400	CNTN2	6900	HP:0000007	Autosomal recessive inheritance
ORPHA:2801	TNFRSF11B	4982	HP:0002757	Recurrent fractures
ORPHA:2801	TNFRSF11B	4982	HP:0002149	Hyperuricemia
ORPHA:2801	TNFRSF11B	4982	HP:0000164	Abnormality of the dentition
ORPHA:2801	TNFRSF11B	4982	HP:0000365	Hearing impairment
ORPHA:2801	TNFRSF11B	4982	HP:0000889	Abnormality of the clavicle
ORPHA:2801	TNFRSF11B	4982	HP:0006487	Bowing of the long bones
ORPHA:2801	TNFRSF11B	4982	HP:0000256	Macrocephaly
ORPHA:2801	TNFRSF11B	4982	HP:0004437	Cranial hyperostosis
ORPHA:2801	TNFRSF11B	4982	HP:0100670	Rough bone trabeculation
ORPHA:2801	TNFRSF11B	4982	HP:0000648	Optic atrophy
ORPHA:2801	TNFRSF11B	4982	HP:0000822	Hypertension
ORPHA:2801	TNFRSF11B	4982	HP:0004322	Short stature
ORPHA:2801	TNFRSF11B	4982	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2801	TNFRSF11B	4982	HP:0000768	Pectus carinatum
ORPHA:2801	TNFRSF11B	4982	HP:0000939	Osteoporosis
OMIM:176200	PPOX	5498	HP:0001649	Tachycardia
OMIM:176200	PPOX	5498	HP:0002013	Vomiting
OMIM:176200	PPOX	5498	HP:0000992	Cutaneous photosensitivity
OMIM:176200	PPOX	5498	HP:0000006	Autosomal dominant inheritance
OMIM:176200	PPOX	5498	HP:0002027	Abdominal pain
OMIM:176200	PPOX	5498	HP:0002019	Constipation
OMIM:176200	PPOX	5498	HP:0010473	Porphyrinuria
OMIM:176200	PPOX	5498	HP:0000709	Psychosis
OMIM:176200	PPOX	5498	HP:0009830	Peripheral neuropathy
OMIM:601539	PEX1	5189	HP:0000444	Convex nasal ridge
OMIM:601539	PEX1	5189	HP:0000648	Optic atrophy
OMIM:601539	PEX1	5189	HP:0011800	Midface retrusion
OMIM:601539	PEX1	5189	HP:0001263	Global developmental delay
OMIM:601539	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX1	5189	HP:0001395	Hepatic fibrosis
OMIM:601539	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX1	5189	HP:0001290	Generalized hypotonia
OMIM:601539	PEX1	5189	HP:0003159	Hyperoxaluria
OMIM:601539	PEX1	5189	HP:0000750	Delayed speech and language development
OMIM:601539	PEX1	5189	HP:0001250	Seizures
OMIM:601539	PEX1	5189	HP:0000286	Epicanthus
OMIM:601539	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX1	5189	HP:0000107	Renal cyst
OMIM:601539	PEX1	5189	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX1	5189	HP:0000431	Wide nasal bridge
OMIM:601539	PEX1	5189	HP:0002415	Leukodystrophy
OMIM:601539	PEX1	5189	HP:0001394	Cirrhosis
OMIM:601539	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614114	CEP57	9702	HP:0001682	Subvalvular aortic stenosis
OMIM:614114	CEP57	9702	HP:0030084	Clinodactyly
OMIM:614114	CEP57	9702	HP:0000252	Microcephaly
OMIM:614114	CEP57	9702	HP:0001511	Intrauterine growth retardation
OMIM:614114	CEP57	9702	HP:0003812	Phenotypic variability
OMIM:614114	CEP57	9702	HP:0001629	Ventricular septal defect
OMIM:614114	CEP57	9702	HP:0001518	Small for gestational age
OMIM:614114	CEP57	9702	HP:0001659	Aortic regurgitation
OMIM:614114	CEP57	9702	HP:0001290	Generalized hypotonia
OMIM:614114	CEP57	9702	HP:0001680	Coarctation of aorta
OMIM:614114	CEP57	9702	HP:0001631	Atrial septal defect
OMIM:614114	CEP57	9702	HP:0000007	Autosomal recessive inheritance
OMIM:614114	CEP57	9702	HP:0004322	Short stature
ORPHA:79134	ABCC8	6833	HP:0011342	Mild global developmental delay
ORPHA:79134	ABCC8	6833	HP:0003074	Hyperglycemia
ORPHA:79134	ABCC8	6833	HP:0040217	Elevated hemoglobin A1c
ORPHA:79134	ABCC8	6833	HP:0001250	Seizures
ORPHA:79134	ABCC8	6833	HP:0008936	Muscular hypotonia of the trunk
ORPHA:79134	ABCC8	6833	HP:0001324	Muscle weakness
ORPHA:79134	KCNJ11	3767	HP:0011342	Mild global developmental delay
ORPHA:79134	KCNJ11	3767	HP:0003074	Hyperglycemia
ORPHA:79134	KCNJ11	3767	HP:0040217	Elevated hemoglobin A1c
ORPHA:79134	KCNJ11	3767	HP:0001250	Seizures
ORPHA:79134	KCNJ11	3767	HP:0008936	Muscular hypotonia of the trunk
ORPHA:79134	KCNJ11	3767	HP:0001324	Muscle weakness
OMIM:616866	TRIP4	9325	HP:0007269	Spinal muscular atrophy
OMIM:616866	TRIP4	9325	HP:0003577	Congenital onset
OMIM:616866	TRIP4	9325	HP:0003477	Peripheral axonal neuropathy
OMIM:616866	TRIP4	9325	HP:0009110	Diaphragmatic eventration
OMIM:616866	TRIP4	9325	HP:0001290	Generalized hypotonia
OMIM:616866	TRIP4	9325	HP:0000007	Autosomal recessive inheritance
OMIM:616866	TRIP4	9325	HP:0003700	Generalized amyotrophy
ORPHA:93314	TRPV4	59341	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:93314	TRPV4	59341	HP:0005280	Depressed nasal bridge
ORPHA:93314	TRPV4	59341	HP:0002812	Coxa vara
ORPHA:93314	TRPV4	59341	HP:0002650	Scoliosis
ORPHA:93314	TRPV4	59341	HP:0002857	Genu valgum
ORPHA:93314	TRPV4	59341	HP:0001288	Gait disturbance
ORPHA:93314	TRPV4	59341	HP:0010306	Short thorax
ORPHA:93314	TRPV4	59341	HP:0000348	High forehead
ORPHA:93314	TRPV4	59341	HP:0001156	Brachydactyly
ORPHA:93314	TRPV4	59341	HP:0001376	Limitation of joint mobility
ORPHA:93314	TRPV4	59341	HP:0003037	Enlarged joints
ORPHA:93314	TRPV4	59341	HP:0000470	Short neck
ORPHA:93314	TRPV4	59341	HP:0000926	Platyspondyly
ORPHA:93314	TRPV4	59341	HP:0002808	Kyphosis
ORPHA:93314	TRPV4	59341	HP:0000768	Pectus carinatum
ORPHA:93314	TRPV4	59341	HP:0002750	Delayed skeletal maturation
ORPHA:93314	TRPV4	59341	HP:0004322	Short stature
ORPHA:93314	TRPV4	59341	HP:0003015	Flared metaphysis
OMIM:614521	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:614521	JAK2	3717	HP:0001428	Somatic mutation
OMIM:614521	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:615286	ADAT3	113179	HP:0001249	Intellectual disability
OMIM:615286	ADAT3	113179	HP:0001508	Failure to thrive
OMIM:615286	ADAT3	113179	HP:0003593	Infantile onset
OMIM:615286	ADAT3	113179	HP:0000007	Autosomal recessive inheritance
OMIM:615286	ADAT3	113179	HP:0000252	Microcephaly
OMIM:615286	ADAT3	113179	HP:0001290	Generalized hypotonia
OMIM:615286	ADAT3	113179	HP:0000565	Esotropia
OMIM:607821	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
ORPHA:210122	FOXF1	2294	HP:0002098	Respiratory distress
ORPHA:210122	FOXF1	2294	HP:0002566	Intestinal malrotation
ORPHA:210122	FOXF1	2294	HP:0004383	Hypoplastic left heart
ORPHA:210122	FOXF1	2294	HP:0002092	Pulmonary arterial hypertension
ORPHA:210122	FOXF1	2294	HP:0001643	Patent ductus arteriosus
OMIM:102000	AIP	9049	HP:0000006	Autosomal dominant inheritance
OMIM:102000	AIP	9049	HP:0200015	Symmetric great toe depigmentation
OMIM:606843	CD40	958	HP:0002847	Impaired memory B-cell generation
OMIM:606843	CD40	958	HP:0002721	Immunodeficiency
OMIM:606843	CD40	958	HP:0003496	Increased IgM level
OMIM:606843	CD40	958	HP:0004315	IgG deficiency
OMIM:606843	CD40	958	HP:0005479	IgE deficiency
OMIM:606843	CD40	958	HP:0000007	Autosomal recessive inheritance
OMIM:606843	CD40	958	HP:0001875	Neutropenia
OMIM:606843	CD40	958	HP:0002718	Recurrent bacterial infections
OMIM:606843	CD40	958	HP:0002849	Absence of lymph node germinal center
OMIM:606843	CD40	958	HP:0002720	IgA deficiency
OMIM:606843	CD40	958	HP:0002959	Impaired Ig class switch recombination
ORPHA:2750	OFD1	8481	HP:0006101	Finger syndactyly
ORPHA:2750	OFD1	8481	HP:0000324	Facial asymmetry
ORPHA:2750	OFD1	8481	HP:0000191	Accessory oral frenulum
ORPHA:2750	OFD1	8481	HP:0000199	Tongue nodules
ORPHA:2750	OFD1	8481	HP:0000316	Hypertelorism
ORPHA:2750	OFD1	8481	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2750	OFD1	8481	HP:0000161	Median cleft lip
ORPHA:2750	OFD1	8481	HP:0000175	Cleft palate
ORPHA:2750	OFD1	8481	HP:0000218	High palate
ORPHA:2750	OFD1	8481	HP:0001250	Seizures
ORPHA:2750	OFD1	8481	HP:0000494	Downslanted palpebral fissures
ORPHA:2750	OFD1	8481	HP:0001249	Intellectual disability
ORPHA:2750	OFD1	8481	HP:0004349	Reduced bone mineral density
ORPHA:2750	OFD1	8481	HP:0000668	Hypodontia
ORPHA:2750	OFD1	8481	HP:0002007	Frontal bossing
ORPHA:2750	OFD1	8481	HP:0010579	Cone-shaped epiphysis
ORPHA:2750	OFD1	8481	HP:0000187	Broad alveolar ridges
ORPHA:2750	OFD1	8481	HP:0001251	Ataxia
ORPHA:2750	OFD1	8481	HP:0000430	Underdeveloped nasal alae
ORPHA:2750	OFD1	8481	HP:0001829	Foot polydactyly
ORPHA:2750	OFD1	8481	HP:0000180	Lobulated tongue
ORPHA:2750	OFD1	8481	HP:0011802	Hamartoma of tongue
ORPHA:2750	OFD1	8481	HP:0001831	Short toe
ORPHA:2750	OFD1	8481	HP:0000431	Wide nasal bridge
ORPHA:578	MCOLN1	57192	HP:0000639	Nystagmus
ORPHA:578	MCOLN1	57192	HP:0000488	Retinopathy
ORPHA:578	MCOLN1	57192	HP:0001249	Intellectual disability
ORPHA:578	MCOLN1	57192	HP:0001347	Hyperreflexia
ORPHA:578	MCOLN1	57192	HP:0002353	EEG abnormality
ORPHA:578	MCOLN1	57192	HP:0001252	Muscular hypotonia
ORPHA:578	MCOLN1	57192	HP:0001344	Absent speech
ORPHA:578	MCOLN1	57192	HP:0007957	Corneal opacity
ORPHA:578	MCOLN1	57192	HP:0011020	Abnormality of mucopolysaccharide metabolism
ORPHA:578	MCOLN1	57192	HP:0000613	Photophobia
ORPHA:578	MCOLN1	57192	HP:0001251	Ataxia
ORPHA:578	MCOLN1	57192	HP:0004345	Abnormality of ganglioside metabolism
ORPHA:578	MCOLN1	57192	HP:0007281	Developmental stagnation
ORPHA:578	MCOLN1	57192	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:578	MCOLN1	57192	HP:0001288	Gait disturbance
ORPHA:578	MCOLN1	57192	HP:0000486	Strabismus
OMIM:615413	NANOS1	340719	HP:0000006	Autosomal dominant inheritance
OMIM:615413	NANOS1	340719	HP:0000789	Infertility
OMIM:615413	NANOS1	340719	HP:0000027	Azoospermia
OMIM:131850	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:131850	COL7A1	1294	HP:0012221	Pretibial blistering
OMIM:131850	COL7A1	1294	HP:0000989	Pruritus
OMIM:131850	COL7A1	1294	HP:0000962	Hyperkeratosis
OMIM:131850	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:131850	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:615961	IGFALS	3483	HP:0000823	Delayed puberty
OMIM:615961	IGFALS	3483	HP:0001530	Mild postnatal growth retardation
OMIM:615961	IGFALS	3483	HP:0030353	Decreased serum insulin-like growth factor 1
OMIM:615961	IGFALS	3483	HP:0008189	Insulin insensitivity
OMIM:615961	IGFALS	3483	HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit level
ORPHA:79083	PPARG	5468	HP:0000869	Secondary amenorrhea
ORPHA:79083	PPARG	5468	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:79083	PPARG	5468	HP:0100578	Lipoatrophy
ORPHA:79083	PPARG	5468	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:79083	PPARG	5468	HP:0000822	Hypertension
ORPHA:79083	PPARG	5468	HP:0009042	Marked muscular hypertrophy
ORPHA:79083	PPARG	5468	HP:0002155	Hypertriglyceridemia
ORPHA:79083	PPARG	5468	HP:0000963	Thin skin
ORPHA:79083	PPARG	5468	HP:0000991	Xanthomatosis
ORPHA:79083	PPARG	5468	HP:0002240	Hepatomegaly
OMIM:614101	FN1	2335	HP:0000006	Autosomal dominant inheritance
OMIM:611597	BFSP2	8419	HP:0007834	Progressive cataract
OMIM:611597	BFSP2	8419	HP:0000006	Autosomal dominant inheritance
OMIM:611597	BFSP2	8419	HP:0000545	Myopia
OMIM:611597	BFSP2	8419	HP:0000519	Congenital cataract
OMIM:148210	GJB2	2706	HP:0006380	Knee flexion contracture
OMIM:148210	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:148210	GJB2	2706	HP:0000653	Sparse eyelashes
OMIM:148210	GJB2	2706	HP:0001761	Pes cavus
OMIM:148210	GJB2	2706	HP:0008064	Ichthyosis
OMIM:148210	GJB2	2706	HP:0000618	Blindness
OMIM:148210	GJB2	2706	HP:0002164	Nail dysplasia
OMIM:148210	GJB2	2706	HP:0008404	Nail dystrophy
OMIM:148210	GJB2	2706	HP:0011492	Abnormality of corneal stroma
OMIM:148210	GJB2	2706	HP:0000613	Photophobia
OMIM:148210	GJB2	2706	HP:0012804	Corneal ulceration
OMIM:148210	GJB2	2706	HP:0000559	Corneal scarring
OMIM:148210	GJB2	2706	HP:0000962	Hyperkeratosis
OMIM:148210	GJB2	2706	HP:0000966	Hypohidrosis
OMIM:148210	GJB2	2706	HP:0002987	Elbow flexion contracture
OMIM:148210	GJB2	2706	HP:0001128	Trichiasis
OMIM:148210	GJB2	2706	HP:0005406	Recurrent bacterial skin infections
OMIM:148210	GJB2	2706	HP:0002745	Oral leukoplakia
OMIM:148210	GJB2	2706	HP:0000535	Sparse and thin eyebrow
OMIM:148210	GJB2	2706	HP:0002860	Squamous cell carcinoma
OMIM:148210	GJB2	2706	HP:0000221	Furrowed tongue
OMIM:148210	GJB2	2706	HP:0001097	Keratoconjunctivitis sicca
OMIM:148210	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:148210	GJB2	2706	HP:0000495	Recurrent corneal erosions
OMIM:301040	ATRX	546	HP:0002059	Cerebral atrophy
OMIM:301040	ATRX	546	HP:0003196	Short nose
OMIM:301040	ATRX	546	HP:0000126	Hydronephrosis
OMIM:301040	ATRX	546	HP:0000407	Sensorineural hearing impairment
OMIM:301040	ATRX	546	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:301040	ATRX	546	HP:0010806	U-Shaped upper lip vermilion
OMIM:301040	ATRX	546	HP:0001250	Seizures
OMIM:301040	ATRX	546	HP:0001762	Talipes equinovarus
OMIM:301040	ATRX	546	HP:0002937	Hemivertebrae
OMIM:301040	ATRX	546	HP:0004840	Hypochromic microcytic anemia
OMIM:301040	ATRX	546	HP:0001566	Widely-spaced maxillary central incisors
OMIM:301040	ATRX	546	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301040	ATRX	546	HP:0003812	Phenotypic variability
OMIM:301040	ATRX	546	HP:0008551	Microtia
OMIM:301040	ATRX	546	HP:0010808	Protruding tongue
OMIM:301040	ATRX	546	HP:0030084	Clinodactyly
OMIM:301040	ATRX	546	HP:0000158	Macroglossia
OMIM:301040	ATRX	546	HP:0002019	Constipation
OMIM:301040	ATRX	546	HP:0000369	Low-set ears
OMIM:301040	ATRX	546	HP:0000463	Anteverted nares
OMIM:301040	ATRX	546	HP:0002688	Absent frontal sinuses
OMIM:301040	ATRX	546	HP:0000049	Shawl scrotum
OMIM:301040	ATRX	546	HP:0005280	Depressed nasal bridge
OMIM:301040	ATRX	546	HP:0001182	Tapered finger
OMIM:301040	ATRX	546	HP:0002673	Coxa valga
OMIM:301040	ATRX	546	HP:0000286	Epicanthus
OMIM:301040	ATRX	546	HP:0001263	Global developmental delay
OMIM:301040	ATRX	546	HP:0001257	Spasticity
OMIM:301040	ATRX	546	HP:0000272	Malar flattening
OMIM:301040	ATRX	546	HP:0009466	Radial deviation of finger
OMIM:301040	ATRX	546	HP:0011682	Perimembranous ventricular septal defect
OMIM:301040	ATRX	546	HP:0000104	Renal agenesis
OMIM:301040	ATRX	546	HP:0008897	Postnatal growth retardation
OMIM:301040	ATRX	546	HP:0001537	Umbilical hernia
OMIM:301040	ATRX	546	HP:0001249	Intellectual disability
OMIM:301040	ATRX	546	HP:0000054	Micropenis
OMIM:301040	ATRX	546	HP:0001423	X-linked dominant inheritance
OMIM:301040	ATRX	546	HP:0002751	Kyphoscoliosis
OMIM:301040	ATRX	546	HP:0000252	Microcephaly
OMIM:301040	ATRX	546	HP:0000179	Thick lower lip vermilion
OMIM:301040	ATRX	546	HP:0000028	Cryptorchidism
OMIM:301040	ATRX	546	HP:0008947	Infantile muscular hypotonia
OMIM:301040	ATRX	546	HP:0000047	Hypospadias
OMIM:301040	ATRX	546	HP:0000358	Posteriorly rotated ears
OMIM:301040	ATRX	546	HP:0002020	Gastroesophageal reflux
OMIM:301040	ATRX	546	HP:0000316	Hypertelorism
ORPHA:52055	IGBP1	3476	HP:0000453	Choanal atresia
ORPHA:52055	IGBP1	3476	HP:0000639	Nystagmus
ORPHA:52055	IGBP1	3476	HP:0000378	Cupped ear
ORPHA:52055	IGBP1	3476	HP:0000767	Pectus excavatum
ORPHA:52055	IGBP1	3476	HP:0000588	Optic nerve coloboma
ORPHA:52055	IGBP1	3476	HP:0002650	Scoliosis
ORPHA:52055	IGBP1	3476	HP:0000407	Sensorineural hearing impairment
ORPHA:52055	IGBP1	3476	HP:0001643	Patent ductus arteriosus
ORPHA:52055	IGBP1	3476	HP:0000278	Retrognathia
ORPHA:52055	IGBP1	3476	HP:0001629	Ventricular septal defect
ORPHA:52055	IGBP1	3476	HP:0000426	Prominent nasal bridge
ORPHA:52055	IGBP1	3476	HP:0000494	Downslanted palpebral fissures
ORPHA:52055	IGBP1	3476	HP:0000369	Low-set ears
ORPHA:52055	IGBP1	3476	HP:0000218	High palate
ORPHA:52055	IGBP1	3476	HP:0000470	Short neck
ORPHA:52055	IGBP1	3476	HP:0004322	Short stature
ORPHA:52055	IGBP1	3476	HP:0000175	Cleft palate
ORPHA:52055	IGBP1	3476	HP:0000348	High forehead
ORPHA:52055	IGBP1	3476	HP:0000612	Iris coloboma
ORPHA:52055	IGBP1	3476	HP:0001274	Agenesis of corpus callosum
ORPHA:52055	IGBP1	3476	HP:0001249	Intellectual disability
ORPHA:52055	IGBP1	3476	HP:0000256	Macrocephaly
ORPHA:261250	ANKRD11	29123	HP:0000307	Pointed chin
ORPHA:261250	ANKRD11	29123	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:261250	ANKRD11	29123	HP:0001250	Seizures
ORPHA:261250	ANKRD11	29123	HP:0002342	Intellectual disability, moderate
ORPHA:261250	ANKRD11	29123	HP:0000348	High forehead
ORPHA:261250	ANKRD11	29123	HP:0000609	Optic nerve hypoplasia
ORPHA:261250	ANKRD11	29123	HP:0000319	Smooth philtrum
ORPHA:261250	ANKRD11	29123	HP:0007165	Periventricular gray matter heterotopia
ORPHA:261250	ANKRD11	29123	HP:0000343	Long philtrum
ORPHA:261250	ANKRD11	29123	HP:0000347	Micrognathia
ORPHA:261250	ANKRD11	29123	HP:0000154	Wide mouth
ORPHA:261250	ANKRD11	29123	HP:0002007	Frontal bossing
ORPHA:261250	ANKRD11	29123	HP:0030048	Colpocephaly
ORPHA:261250	ANKRD11	29123	HP:0002119	Ventriculomegaly
ORPHA:261250	ANKRD11	29123	HP:0000411	Protruding ear
ORPHA:261250	ANKRD11	29123	HP:0000218	High palate
ORPHA:261250	ANKRD11	29123	HP:0000717	Autism
OMIM:130900	FAM83H	286077	HP:0000689	Dental malocclusion
OMIM:130900	FAM83H	286077	HP:0000705	Amelogenesis imperfecta
OMIM:130900	FAM83H	286077	HP:0200095	Anterior open bite
OMIM:130900	FAM83H	286077	HP:0000006	Autosomal dominant inheritance
OMIM:613123	HCN4	10021	HP:0012251	ST segment elevation
OMIM:613123	HCN4	10021	HP:0004756	Ventricular tachycardia
ORPHA:154	TPM1	7168	HP:0001644	Dilated cardiomyopathy
ORPHA:154	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
ORPHA:154	ACTC1	70	HP:0001644	Dilated cardiomyopathy
ORPHA:154	RAF1	5894	HP:0001644	Dilated cardiomyopathy
ORPHA:154	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
ORPHA:154	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TMPO	7112	HP:0001644	Dilated cardiomyopathy
ORPHA:154	DES	1674	HP:0001644	Dilated cardiomyopathy
ORPHA:154	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
ORPHA:154	MYH6	4624	HP:0001644	Dilated cardiomyopathy
ORPHA:154	MYH7	4625	HP:0001644	Dilated cardiomyopathy
ORPHA:154	LDB3	11155	HP:0001644	Dilated cardiomyopathy
ORPHA:154	ACTN2	88	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
ORPHA:154	DMD	1756	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
ORPHA:154	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
ORPHA:154	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
ORPHA:154	NEBL	10529	HP:0001644	Dilated cardiomyopathy
ORPHA:154	FHL2	2274	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
ORPHA:154	DSG2	1829	HP:0001644	Dilated cardiomyopathy
ORPHA:154	PLN	5350	HP:0001644	Dilated cardiomyopathy
ORPHA:154	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TTN	7273	HP:0001644	Dilated cardiomyopathy
ORPHA:154	NEXN	91624	HP:0001644	Dilated cardiomyopathy
ORPHA:154	FKTN	2218	HP:0001644	Dilated cardiomyopathy
ORPHA:154	SGCD	6444	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TCAP	8557	HP:0001644	Dilated cardiomyopathy
ORPHA:154	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
ORPHA:154	RBM20	282996	HP:0001644	Dilated cardiomyopathy
ORPHA:154	SDHA	6389	HP:0001644	Dilated cardiomyopathy
ORPHA:154	TAZ	6901	HP:0001644	Dilated cardiomyopathy
ORPHA:154	VCL	7414	HP:0001644	Dilated cardiomyopathy
ORPHA:154	ANKRD1	27063	HP:0001644	Dilated cardiomyopathy
ORPHA:154	MYPN	84665	HP:0001644	Dilated cardiomyopathy
ORPHA:154	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
ORPHA:154	BAG3	9531	HP:0001644	Dilated cardiomyopathy
ORPHA:154	DOLK	22845	HP:0001644	Dilated cardiomyopathy
ORPHA:154	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:614073	HPS4	89781	HP:0011883	Abnormal platelet granules
OMIM:614073	HPS4	89781	HP:0002206	Pulmonary fibrosis
OMIM:614073	HPS4	89781	HP:0001022	Albinism
OMIM:614073	HPS4	89781	HP:0000007	Autosomal recessive inheritance
OMIM:614073	HPS4	89781	HP:0001107	Ocular albinism
ORPHA:447	PIGA	5277	HP:0001907	Thromboembolism
ORPHA:447	PIGA	5277	HP:0100724	Hypercoagulability
ORPHA:447	PIGA	5277	HP:0001878	Hemolytic anemia
ORPHA:447	PIGA	5277	HP:0005528	Bone marrow hypocellularity
ORPHA:85408	TYK2	7297	HP:0005764	Polyarticular arthritis
ORPHA:85408	TYK2	7297	HP:0001376	Limitation of joint mobility
ORPHA:85408	TYK2	7297	HP:0002186	Apraxia
ORPHA:85408	TYK2	7297	HP:0000689	Dental malocclusion
ORPHA:85408	TYK2	7297	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	TYK2	7297	HP:0001373	Joint dislocation
ORPHA:85408	TYK2	7297	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	TYK2	7297	HP:0001386	Joint swelling
ORPHA:85408	TYK2	7297	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	TYK2	7297	HP:0002829	Arthralgia
ORPHA:85408	TYK2	7297	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	FAS	355	HP:0005764	Polyarticular arthritis
ORPHA:85408	FAS	355	HP:0001376	Limitation of joint mobility
ORPHA:85408	FAS	355	HP:0002186	Apraxia
ORPHA:85408	FAS	355	HP:0000689	Dental malocclusion
ORPHA:85408	FAS	355	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	FAS	355	HP:0001373	Joint dislocation
ORPHA:85408	FAS	355	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	FAS	355	HP:0001386	Joint swelling
ORPHA:85408	FAS	355	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	FAS	355	HP:0002829	Arthralgia
ORPHA:85408	FAS	355	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	IL2RA	3559	HP:0005764	Polyarticular arthritis
ORPHA:85408	IL2RA	3559	HP:0001376	Limitation of joint mobility
ORPHA:85408	IL2RA	3559	HP:0002186	Apraxia
ORPHA:85408	IL2RA	3559	HP:0000689	Dental malocclusion
ORPHA:85408	IL2RA	3559	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	IL2RA	3559	HP:0001373	Joint dislocation
ORPHA:85408	IL2RA	3559	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	IL2RA	3559	HP:0001386	Joint swelling
ORPHA:85408	IL2RA	3559	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	IL2RA	3559	HP:0002829	Arthralgia
ORPHA:85408	IL2RA	3559	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	CD247	919	HP:0005764	Polyarticular arthritis
ORPHA:85408	CD247	919	HP:0001376	Limitation of joint mobility
ORPHA:85408	CD247	919	HP:0002186	Apraxia
ORPHA:85408	CD247	919	HP:0000689	Dental malocclusion
ORPHA:85408	CD247	919	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	CD247	919	HP:0001373	Joint dislocation
ORPHA:85408	CD247	919	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	CD247	919	HP:0001386	Joint swelling
ORPHA:85408	CD247	919	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	CD247	919	HP:0002829	Arthralgia
ORPHA:85408	CD247	919	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	STAT4	6775	HP:0005764	Polyarticular arthritis
ORPHA:85408	STAT4	6775	HP:0001376	Limitation of joint mobility
ORPHA:85408	STAT4	6775	HP:0002186	Apraxia
ORPHA:85408	STAT4	6775	HP:0000689	Dental malocclusion
ORPHA:85408	STAT4	6775	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	STAT4	6775	HP:0001373	Joint dislocation
ORPHA:85408	STAT4	6775	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	STAT4	6775	HP:0001386	Joint swelling
ORPHA:85408	STAT4	6775	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	STAT4	6775	HP:0002829	Arthralgia
ORPHA:85408	STAT4	6775	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	IL2RB	3560	HP:0005764	Polyarticular arthritis
ORPHA:85408	IL2RB	3560	HP:0001376	Limitation of joint mobility
ORPHA:85408	IL2RB	3560	HP:0002186	Apraxia
ORPHA:85408	IL2RB	3560	HP:0000689	Dental malocclusion
ORPHA:85408	IL2RB	3560	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	IL2RB	3560	HP:0001373	Joint dislocation
ORPHA:85408	IL2RB	3560	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	IL2RB	3560	HP:0001386	Joint swelling
ORPHA:85408	IL2RB	3560	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	IL2RB	3560	HP:0002829	Arthralgia
ORPHA:85408	IL2RB	3560	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	PTPN2	5771	HP:0005764	Polyarticular arthritis
ORPHA:85408	PTPN2	5771	HP:0001376	Limitation of joint mobility
ORPHA:85408	PTPN2	5771	HP:0002186	Apraxia
ORPHA:85408	PTPN2	5771	HP:0000689	Dental malocclusion
ORPHA:85408	PTPN2	5771	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	PTPN2	5771	HP:0001373	Joint dislocation
ORPHA:85408	PTPN2	5771	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	PTPN2	5771	HP:0001386	Joint swelling
ORPHA:85408	PTPN2	5771	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	PTPN2	5771	HP:0002829	Arthralgia
ORPHA:85408	PTPN2	5771	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	ANKRD55	79722	HP:0005764	Polyarticular arthritis
ORPHA:85408	ANKRD55	79722	HP:0001376	Limitation of joint mobility
ORPHA:85408	ANKRD55	79722	HP:0002186	Apraxia
ORPHA:85408	ANKRD55	79722	HP:0000689	Dental malocclusion
ORPHA:85408	ANKRD55	79722	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	ANKRD55	79722	HP:0001373	Joint dislocation
ORPHA:85408	ANKRD55	79722	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	ANKRD55	79722	HP:0001386	Joint swelling
ORPHA:85408	ANKRD55	79722	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	ANKRD55	79722	HP:0002829	Arthralgia
ORPHA:85408	ANKRD55	79722	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85408	PTPN22	26191	HP:0005764	Polyarticular arthritis
ORPHA:85408	PTPN22	26191	HP:0001376	Limitation of joint mobility
ORPHA:85408	PTPN22	26191	HP:0002186	Apraxia
ORPHA:85408	PTPN22	26191	HP:0000689	Dental malocclusion
ORPHA:85408	PTPN22	26191	HP:0011227	Elevated C-reactive protein level
ORPHA:85408	PTPN22	26191	HP:0001373	Joint dislocation
ORPHA:85408	PTPN22	26191	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85408	PTPN22	26191	HP:0001386	Joint swelling
ORPHA:85408	PTPN22	26191	HP:0003493	Antinuclear antibody positivity
ORPHA:85408	PTPN22	26191	HP:0002829	Arthralgia
ORPHA:85408	PTPN22	26191	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:2228	MSX1	4487	HP:0000668	Hypodontia
ORPHA:2228	MSX1	4487	HP:0000232	Everted lower lip vermilion
ORPHA:2228	MSX1	4487	HP:0002213	Fine hair
ORPHA:2228	MSX1	4487	HP:0001804	Hypoplastic fingernail
ORPHA:2228	MSX1	4487	HP:0000698	Conical tooth
ORPHA:2228	MSX1	4487	HP:0006349	Agenesis of permanent teeth
ORPHA:2228	MSX1	4487	HP:0000684	Delayed eruption of teeth
ORPHA:2228	MSX1	4487	HP:0001808	Fragile nails
ORPHA:2228	MSX1	4487	HP:0012746	Thin toenail
ORPHA:2228	MSX1	4487	HP:0001800	Hypoplastic toenails
ORPHA:2228	MSX1	4487	HP:0008402	Ridged fingernail
OMIM:610733	SOS1	6654	HP:0001629	Ventricular septal defect
OMIM:610733	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:610733	SOS1	6654	HP:0006610	Wide intermamillary distance
OMIM:610733	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:610733	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	SOS1	6654	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	SOS1	6654	HP:0005280	Depressed nasal bridge
OMIM:610733	SOS1	6654	HP:0002967	Cubitus valgus
OMIM:610733	SOS1	6654	HP:0000316	Hypertelorism
OMIM:610733	SOS1	6654	HP:0002212	Curly hair
OMIM:610733	SOS1	6654	HP:0000470	Short neck
OMIM:610733	SOS1	6654	HP:0000179	Thick lower lip vermilion
OMIM:610733	SOS1	6654	HP:0000286	Epicanthus
OMIM:610733	SOS1	6654	HP:0009890	High anterior hairline
OMIM:610733	SOS1	6654	HP:0000508	Ptosis
OMIM:610733	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:610733	SOS1	6654	HP:0000535	Sparse and thin eyebrow
OMIM:610733	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:610733	SOS1	6654	HP:0004322	Short stature
OMIM:610733	SOS1	6654	HP:0000256	Macrocephaly
OMIM:610733	SOS1	6654	HP:0002650	Scoliosis
OMIM:610733	SOS1	6654	HP:0000689	Dental malocclusion
OMIM:610733	SOS1	6654	HP:0000635	Blue irides
OMIM:610733	SOS1	6654	HP:0000465	Webbed neck
OMIM:610733	SOS1	6654	HP:0000915	Pectus excavatum of inferior sternum
OMIM:616907	CAPN1	823	HP:0000007	Autosomal recessive inheritance
OMIM:616907	CAPN1	823	HP:0008081	Pes valgus
OMIM:616907	CAPN1	823	HP:0001258	Spastic paraplegia
OMIM:614480	GPD1	2819	HP:0001397	Hepatic steatosis
OMIM:614480	GPD1	2819	HP:0001395	Hepatic fibrosis
OMIM:614480	GPD1	2819	HP:0002155	Hypertriglyceridemia
OMIM:614480	GPD1	2819	HP:0002240	Hepatomegaly
OMIM:614480	GPD1	2819	HP:0003593	Infantile onset
OMIM:614480	GPD1	2819	HP:0004322	Short stature
OMIM:614480	GPD1	2819	HP:0000007	Autosomal recessive inheritance
OMIM:614480	GPD1	2819	HP:0002910	Elevated hepatic transaminases
ORPHA:90309	COL5A1	1289	HP:0001373	Joint dislocation
ORPHA:90309	COL5A1	1289	HP:0005692	Joint hyperflexibility
ORPHA:90309	COL5A1	1289	HP:0001724	Aortic dilatation
ORPHA:90309	COL5A1	1289	HP:0000023	Inguinal hernia
ORPHA:90309	COL5A1	1289	HP:0001822	Hallux valgus
ORPHA:90309	COL5A1	1289	HP:0001075	Atrophic scars
ORPHA:90309	COL5A1	1289	HP:0002020	Gastroesophageal reflux
ORPHA:90309	COL5A1	1289	HP:0001763	Pes planus
ORPHA:90309	COL5A1	1289	HP:0000977	Soft skin
ORPHA:90309	COL5A1	1289	HP:0002619	Varicose veins
ORPHA:90309	COL5A1	1289	HP:0000767	Pectus excavatum
ORPHA:90309	COL5A1	1289	HP:0000963	Thin skin
ORPHA:90309	COL5A1	1289	HP:0002650	Scoliosis
ORPHA:90309	COL5A1	1289	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90309	COL5A1	1289	HP:0000768	Pectus carinatum
ORPHA:90309	COL5A1	1289	HP:0000978	Bruising susceptibility
ORPHA:90309	COL5A1	1289	HP:0002816	Genu recurvatum
ORPHA:90309	COL5A1	1289	HP:0001537	Umbilical hernia
ORPHA:90309	COL5A1	1289	HP:0100541	Femoral hernia
ORPHA:90309	COL5A2	1290	HP:0001373	Joint dislocation
ORPHA:90309	COL5A2	1290	HP:0005692	Joint hyperflexibility
ORPHA:90309	COL5A2	1290	HP:0001724	Aortic dilatation
ORPHA:90309	COL5A2	1290	HP:0000023	Inguinal hernia
ORPHA:90309	COL5A2	1290	HP:0001822	Hallux valgus
ORPHA:90309	COL5A2	1290	HP:0001075	Atrophic scars
ORPHA:90309	COL5A2	1290	HP:0002020	Gastroesophageal reflux
ORPHA:90309	COL5A2	1290	HP:0001763	Pes planus
ORPHA:90309	COL5A2	1290	HP:0000977	Soft skin
ORPHA:90309	COL5A2	1290	HP:0002619	Varicose veins
ORPHA:90309	COL5A2	1290	HP:0000767	Pectus excavatum
ORPHA:90309	COL5A2	1290	HP:0000963	Thin skin
ORPHA:90309	COL5A2	1290	HP:0002650	Scoliosis
ORPHA:90309	COL5A2	1290	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90309	COL5A2	1290	HP:0000768	Pectus carinatum
ORPHA:90309	COL5A2	1290	HP:0000978	Bruising susceptibility
ORPHA:90309	COL5A2	1290	HP:0002816	Genu recurvatum
ORPHA:90309	COL5A2	1290	HP:0001537	Umbilical hernia
ORPHA:90309	COL5A2	1290	HP:0100541	Femoral hernia
ORPHA:90309	COL1A1	1277	HP:0001373	Joint dislocation
ORPHA:90309	COL1A1	1277	HP:0005692	Joint hyperflexibility
ORPHA:90309	COL1A1	1277	HP:0001724	Aortic dilatation
ORPHA:90309	COL1A1	1277	HP:0000023	Inguinal hernia
ORPHA:90309	COL1A1	1277	HP:0001822	Hallux valgus
ORPHA:90309	COL1A1	1277	HP:0001075	Atrophic scars
ORPHA:90309	COL1A1	1277	HP:0002020	Gastroesophageal reflux
ORPHA:90309	COL1A1	1277	HP:0001763	Pes planus
ORPHA:90309	COL1A1	1277	HP:0000977	Soft skin
ORPHA:90309	COL1A1	1277	HP:0002619	Varicose veins
ORPHA:90309	COL1A1	1277	HP:0000767	Pectus excavatum
ORPHA:90309	COL1A1	1277	HP:0000963	Thin skin
ORPHA:90309	COL1A1	1277	HP:0002650	Scoliosis
ORPHA:90309	COL1A1	1277	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90309	COL1A1	1277	HP:0000768	Pectus carinatum
ORPHA:90309	COL1A1	1277	HP:0000978	Bruising susceptibility
ORPHA:90309	COL1A1	1277	HP:0002816	Genu recurvatum
ORPHA:90309	COL1A1	1277	HP:0001537	Umbilical hernia
ORPHA:90309	COL1A1	1277	HP:0100541	Femoral hernia
OMIM:617282	MECR	51102	HP:0002072	Chorea
OMIM:617282	MECR	51102	HP:0000007	Autosomal recessive inheritance
OMIM:617282	MECR	51102	HP:0000505	Visual impairment
OMIM:617282	MECR	51102	HP:0003676	Progressive
OMIM:617282	MECR	51102	HP:0001260	Dysarthria
OMIM:617282	MECR	51102	HP:0100660	Dyskinesia
OMIM:617282	MECR	51102	HP:0001251	Ataxia
OMIM:617282	MECR	51102	HP:0001336	Myoclonus
OMIM:617282	MECR	51102	HP:0002015	Dysphagia
OMIM:617282	MECR	51102	HP:0012179	Craniofacial dystonia
OMIM:617282	MECR	51102	HP:0000639	Nystagmus
OMIM:617282	MECR	51102	HP:0001288	Gait disturbance
OMIM:617282	MECR	51102	HP:0003828	Variable expressivity
OMIM:617282	MECR	51102	HP:0000648	Optic atrophy
OMIM:234050	MPLKIP	136647	HP:0001510	Growth delay
OMIM:234050	MPLKIP	136647	HP:0008070	Sparse hair
OMIM:234050	MPLKIP	136647	HP:0000144	Decreased fertility
OMIM:234050	MPLKIP	136647	HP:0001598	Concave nail
OMIM:234050	MPLKIP	136647	HP:0000252	Microcephaly
OMIM:234050	MPLKIP	136647	HP:0001263	Global developmental delay
OMIM:234050	MPLKIP	136647	HP:0000007	Autosomal recessive inheritance
OMIM:234050	MPLKIP	136647	HP:0001792	Small nail
OMIM:234050	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:234050	MPLKIP	136647	HP:0009886	Trichorrhexis nodosa
OMIM:234050	MPLKIP	136647	HP:0000400	Macrotia
OMIM:234050	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:300100	ABCD1	215	HP:0000802	Impotence
OMIM:300100	ABCD1	215	HP:0000726	Dementia
OMIM:300100	ABCD1	215	HP:0002078	Truncal ataxia
OMIM:300100	ABCD1	215	HP:0002385	Paraparesis
OMIM:300100	ABCD1	215	HP:0000924	Abnormality of the skeletal system
OMIM:300100	ABCD1	215	HP:0002607	Bowel incontinence
OMIM:300100	ABCD1	215	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:300100	ABCD1	215	HP:0000572	Visual loss
OMIM:300100	ABCD1	215	HP:0000020	Urinary incontinence
OMIM:300100	ABCD1	215	HP:0008207	Primary adrenal insufficiency
OMIM:300100	ABCD1	215	HP:0001350	Slurred speech
OMIM:300100	ABCD1	215	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300100	ABCD1	215	HP:0002070	Limb ataxia
OMIM:300100	ABCD1	215	HP:0002371	Loss of speech
OMIM:300100	ABCD1	215	HP:0000953	Hyperpigmentation of the skin
OMIM:300100	ABCD1	215	HP:0002500	Abnormality of the cerebral white matter
OMIM:300100	ABCD1	215	HP:0000135	Hypogonadism
OMIM:300100	ABCD1	215	HP:0001250	Seizures
OMIM:300100	ABCD1	215	HP:0002180	Neurodegeneration
OMIM:300100	ABCD1	215	HP:0002311	Incoordination
OMIM:300100	ABCD1	215	HP:0003676	Progressive
OMIM:300100	ABCD1	215	HP:0001283	Bulbar palsy
OMIM:300100	ABCD1	215	HP:0001271	Polyneuropathy
OMIM:300100	ABCD1	215	HP:0001258	Spastic paraplegia
OMIM:300100	ABCD1	215	HP:0000365	Hearing impairment
OMIM:300100	ABCD1	215	HP:0000618	Blindness
OMIM:300100	ABCD1	215	HP:0000709	Psychosis
OMIM:300100	ABCD1	215	HP:0003455	Elevated long chain fatty acids
OMIM:300100	ABCD1	215	HP:0001419	X-linked recessive inheritance
OMIM:607196	SLC25A19	60386	HP:0003128	Lactic acidosis
OMIM:607196	SLC25A19	60386	HP:0008936	Muscular hypotonia of the trunk
OMIM:607196	SLC25A19	60386	HP:0002240	Hepatomegaly
OMIM:607196	SLC25A19	60386	HP:0001371	Flexion contracture
OMIM:607196	SLC25A19	60386	HP:0002509	Limb hypertonia
OMIM:607196	SLC25A19	60386	HP:0003577	Congenital onset
OMIM:607196	SLC25A19	60386	HP:0000007	Autosomal recessive inheritance
OMIM:607196	SLC25A19	60386	HP:0001338	Partial agenesis of the corpus callosum
OMIM:607196	SLC25A19	60386	HP:0000253	Progressive microcephaly
OMIM:607196	SLC25A19	60386	HP:0000347	Micrognathia
OMIM:607196	SLC25A19	60386	HP:0000737	Irritability
OMIM:607196	SLC25A19	60386	HP:0001321	Cerebellar hypoplasia
ORPHA:508	INSR	3643	HP:0000520	Proptosis
ORPHA:508	INSR	3643	HP:0004326	Cachexia
ORPHA:508	INSR	3643	HP:0002205	Recurrent respiratory infections
ORPHA:508	INSR	3643	HP:0002230	Generalized hirsutism
ORPHA:508	INSR	3643	HP:0001395	Hepatic fibrosis
ORPHA:508	INSR	3643	HP:0005280	Depressed nasal bridge
ORPHA:508	INSR	3643	HP:0001396	Cholestasis
ORPHA:508	INSR	3643	HP:0003202	Skeletal muscle atrophy
ORPHA:508	INSR	3643	HP:0008872	Feeding difficulties in infancy
ORPHA:508	INSR	3643	HP:0009928	Thick nasal alae
ORPHA:508	INSR	3643	HP:0000842	Hyperinsulinemia
ORPHA:508	INSR	3643	HP:0100578	Lipoatrophy
ORPHA:508	INSR	3643	HP:0000316	Hypertelorism
ORPHA:508	INSR	3643	HP:0000400	Macrotia
ORPHA:508	INSR	3643	HP:0001999	Abnormal facial shape
ORPHA:508	INSR	3643	HP:0004322	Short stature
ORPHA:508	INSR	3643	HP:0002750	Delayed skeletal maturation
ORPHA:508	INSR	3643	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:508	INSR	3643	HP:0005978	Type II diabetes mellitus
ORPHA:508	INSR	3643	HP:0001943	Hypoglycemia
ORPHA:508	INSR	3643	HP:0000474	Thickened nuchal skin fold
ORPHA:508	INSR	3643	HP:0000771	Gynecomastia
ORPHA:508	INSR	3643	HP:0000040	Long penis
ORPHA:508	INSR	3643	HP:0004405	Prominent nipples
ORPHA:508	INSR	3643	HP:0000023	Inguinal hernia
ORPHA:508	INSR	3643	HP:0100543	Cognitive impairment
ORPHA:508	INSR	3643	HP:0001537	Umbilical hernia
ORPHA:508	INSR	3643	HP:0001511	Intrauterine growth retardation
ORPHA:508	INSR	3643	HP:0010458	Female pseudohermaphroditism
ORPHA:508	INSR	3643	HP:0000364	Hearing abnormality
ORPHA:508	INSR	3643	HP:0000179	Thick lower lip vermilion
ORPHA:508	INSR	3643	HP:0002705	High, narrow palate
ORPHA:508	INSR	3643	HP:0001525	Severe failure to thrive
OMIM:217300	KERA	11081	HP:0000540	Hypermetropia
OMIM:217300	KERA	11081	HP:0007720	Flat cornea
OMIM:217300	KERA	11081	HP:0100689	Decreased corneal thickness
OMIM:217300	KERA	11081	HP:0000007	Autosomal recessive inheritance
OMIM:217300	KERA	11081	HP:0001084	Corneal arcus
OMIM:114300	PIEZO2	63895	HP:0001845	Overlapping toe
OMIM:114300	PIEZO2	63895	HP:0000176	Submucous cleft hard palate
OMIM:114300	PIEZO2	63895	HP:0000347	Micrognathia
OMIM:114300	PIEZO2	63895	HP:0004322	Short stature
OMIM:114300	PIEZO2	63895	HP:0000006	Autosomal dominant inheritance
OMIM:114300	PIEZO2	63895	HP:0002944	Thoracolumbar scoliosis
OMIM:114300	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
OMIM:114300	PIEZO2	63895	HP:0002751	Kyphoscoliosis
OMIM:114300	PIEZO2	63895	HP:0001374	Congenital hip dislocation
OMIM:114300	PIEZO2	63895	HP:0009803	Short phalanx of finger
OMIM:114300	PIEZO2	63895	HP:0100490	Camptodactyly of finger
OMIM:114300	PIEZO2	63895	HP:0006380	Knee flexion contracture
OMIM:114300	PIEZO2	63895	HP:0005684	Distal arthrogryposis
OMIM:114300	PIEZO2	63895	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:114300	PIEZO2	63895	HP:0001836	Camptodactyly of toe
OMIM:114300	PIEZO2	63895	HP:0000193	Bifid uvula
OMIM:114300	PIEZO2	63895	HP:0001547	Abnormality of the rib cage
OMIM:114300	PIEZO2	63895	HP:0000508	Ptosis
OMIM:114300	PIEZO2	63895	HP:0000954	Single transverse palmar crease
OMIM:114300	PIEZO2	63895	HP:0000218	High palate
OMIM:114300	PIEZO2	63895	HP:0003199	Decreased muscle mass
OMIM:114300	PIEZO2	63895	HP:0200021	Down-sloping shoulders
OMIM:114300	PIEZO2	63895	HP:0010554	Cutaneous finger syndactyly
OMIM:114300	PIEZO2	63895	HP:0000470	Short neck
OMIM:114300	PIEZO2	63895	HP:0000324	Facial asymmetry
OMIM:114300	PIEZO2	63895	HP:0000767	Pectus excavatum
OMIM:114300	PIEZO2	63895	HP:0001762	Talipes equinovarus
OMIM:114300	PIEZO2	63895	HP:0002938	Lumbar hyperlordosis
OMIM:114300	PIEZO2	63895	HP:0000028	Cryptorchidism
OMIM:114300	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:114300	PIEZO2	63895	HP:0003184	Decreased hip abduction
OMIM:612069	TARDBP	23435	HP:0003487	Babinski sign
OMIM:612069	TARDBP	23435	HP:0002015	Dysphagia
OMIM:612069	TARDBP	23435	HP:0003678	Rapidly progressive
OMIM:612069	TARDBP	23435	HP:0001257	Spasticity
OMIM:612069	TARDBP	23435	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	TARDBP	23435	HP:0001260	Dysarthria
OMIM:612069	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:612069	TARDBP	23435	HP:0000741	Apathy
OMIM:612069	TARDBP	23435	HP:0000734	Disinhibition
OMIM:612069	TARDBP	23435	HP:0000712	Emotional lability
OMIM:612069	TARDBP	23435	HP:0030223	Perseveration
OMIM:612069	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:612069	TARDBP	23435	HP:0000733	Stereotypy
ORPHA:40	NPR2	4882	HP:0005692	Joint hyperflexibility
ORPHA:40	NPR2	4882	HP:0008422	Vertebral wedging
ORPHA:40	NPR2	4882	HP:0005280	Depressed nasal bridge
ORPHA:40	NPR2	4882	HP:0006487	Bowing of the long bones
ORPHA:40	NPR2	4882	HP:0003300	Ovoid vertebral bodies
ORPHA:40	NPR2	4882	HP:0011220	Prominent forehead
ORPHA:40	NPR2	4882	HP:0000912	Sprengel anomaly
ORPHA:40	NPR2	4882	HP:0001156	Brachydactyly
ORPHA:40	NPR2	4882	HP:0002650	Scoliosis
ORPHA:40	NPR2	4882	HP:0002007	Frontal bossing
ORPHA:40	NPR2	4882	HP:0003086	Acromesomelia
ORPHA:40	NPR2	4882	HP:0001387	Joint stiffness
ORPHA:40	NPR2	4882	HP:0003498	Disproportionate short stature
ORPHA:40	NPR2	4882	HP:0000268	Dolichocephaly
ORPHA:40	NPR2	4882	HP:0002808	Kyphosis
ORPHA:40	NPR2	4882	HP:0003307	Hyperlordosis
ORPHA:40	NPR2	4882	HP:0004568	Beaking of vertebral bodies
OMIM:234200	PANK2	80025	HP:0001263	Global developmental delay
OMIM:234200	PANK2	80025	HP:0000716	Depressivity
OMIM:234200	PANK2	80025	HP:0007313	Cerebral degeneration
OMIM:234200	PANK2	80025	HP:0000273	Facial grimacing
OMIM:234200	PANK2	80025	HP:0000752	Hyperactivity
OMIM:234200	PANK2	80025	HP:0002063	Rigidity
OMIM:234200	PANK2	80025	HP:0000726	Dementia
OMIM:234200	PANK2	80025	HP:0002304	Akinesia
OMIM:234200	PANK2	80025	HP:0001260	Dysarthria
OMIM:234200	PANK2	80025	HP:0003678	Rapidly progressive
OMIM:234200	PANK2	80025	HP:0100034	Motor tics
OMIM:234200	PANK2	80025	HP:0001288	Gait disturbance
OMIM:234200	PANK2	80025	HP:0001300	Parkinsonism
OMIM:234200	PANK2	80025	HP:0000708	Behavioral abnormality
OMIM:234200	PANK2	80025	HP:0002015	Dysphagia
OMIM:234200	PANK2	80025	HP:0000658	Eyelid apraxia
OMIM:234200	PANK2	80025	HP:0001257	Spasticity
OMIM:234200	PANK2	80025	HP:0000020	Urinary incontinence
OMIM:234200	PANK2	80025	HP:0001266	Choreoathetosis
OMIM:234200	PANK2	80025	HP:0008770	Obsessive-compulsive trait
OMIM:234200	PANK2	80025	HP:0002180	Neurodegeneration
OMIM:234200	PANK2	80025	HP:0001251	Ataxia
OMIM:234200	PANK2	80025	HP:0007256	Abnormal pyramidal signs
OMIM:234200	PANK2	80025	HP:0000953	Hyperpigmentation of the skin
OMIM:234200	PANK2	80025	HP:0002454	Eye of the tiger anomaly of globus pallidus
OMIM:234200	PANK2	80025	HP:0008872	Feeding difficulties in infancy
OMIM:234200	PANK2	80025	HP:0000546	Retinal degeneration
OMIM:234200	PANK2	80025	HP:0000007	Autosomal recessive inheritance
OMIM:234200	PANK2	80025	HP:0001337	Tremor
OMIM:234200	PANK2	80025	HP:0002283	Global brain atrophy
OMIM:234200	PANK2	80025	HP:0003198	Myopathy
OMIM:234200	PANK2	80025	HP:0002310	Orofacial dyskinesia
OMIM:234200	PANK2	80025	HP:0001618	Dysphonia
OMIM:234200	PANK2	80025	HP:0001927	Acanthocytosis
OMIM:234200	PANK2	80025	HP:0002067	Bradykinesia
OMIM:234200	PANK2	80025	HP:0000648	Optic atrophy
OMIM:234200	PANK2	80025	HP:0000643	Blepharospasm
OMIM:234200	PANK2	80025	HP:0000580	Pigmentary retinopathy
OMIM:234200	PANK2	80025	HP:0001760	Abnormality of the foot
OMIM:234200	PANK2	80025	HP:0003199	Decreased muscle mass
OMIM:615974	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:615974	EPS8	2059	HP:0003577	Congenital onset
OMIM:615974	EPS8	2059	HP:0012715	Profound hearing impairment
ORPHA:1941	EFHC1	114327	HP:0000153	Abnormality of the mouth
ORPHA:1941	EFHC1	114327	HP:0000496	Abnormality of eye movement
ORPHA:1941	EFHC1	114327	HP:0002392	EEG with polyspike wave complexes
ORPHA:1941	EFHC1	114327	HP:0002069	Generalized tonic-clonic seizures
OMIM:616269	SLC6A17	388662	HP:0000400	Macrotia
OMIM:616269	SLC6A17	388662	HP:0010864	Intellectual disability, severe
OMIM:616269	SLC6A17	388662	HP:0000303	Mandibular prognathia
OMIM:616269	SLC6A17	388662	HP:0002515	Waddling gait
OMIM:616269	SLC6A17	388662	HP:0200055	Small hand
OMIM:616269	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:616269	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:616269	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:616269	SLC6A17	388662	HP:0000343	Long philtrum
OMIM:616269	SLC6A17	388662	HP:0000718	Aggressive behavior
OMIM:616269	SLC6A17	388662	HP:0000742	Self-mutilation
OMIM:616269	SLC6A17	388662	HP:0002540	Inability to walk
OMIM:616269	SLC6A17	388662	HP:0000581	Blepharophimosis
OMIM:616269	SLC6A17	388662	HP:0030186	Kinetic tremor
OMIM:601154	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:601154	SCN5A	6331	HP:0011713	Left bundle branch block
OMIM:601154	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601154	SCN5A	6331	HP:0004749	Atrial flutter
OMIM:601154	SCN5A	6331	HP:0006699	Premature atrial contractions
OMIM:601154	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:601154	SCN5A	6331	HP:0006682	Ventricular extrasystoles
OMIM:601154	SCN5A	6331	HP:0001962	Palpitations
OMIM:601154	SCN5A	6331	HP:0011712	Right bundle branch block
OMIM:601154	SCN5A	6331	HP:0025478	Atrial standstill
OMIM:601154	SCN5A	6331	HP:0001297	Stroke
OMIM:601154	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:601154	SCN5A	6331	HP:0001279	Syncope
OMIM:601154	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:147920	KMT2D	8085	HP:0011231	Prominent eyelashes
OMIM:147920	KMT2D	8085	HP:0000006	Autosomal dominant inheritance
OMIM:147920	KMT2D	8085	HP:0000403	Recurrent otitis media
OMIM:147920	KMT2D	8085	HP:0000358	Posteriorly rotated ears
OMIM:147920	KMT2D	8085	HP:0002023	Anal atresia
OMIM:147920	KMT2D	8085	HP:0002566	Intestinal malrotation
OMIM:147920	KMT2D	8085	HP:0009237	Short 5th finger
OMIM:147920	KMT2D	8085	HP:0002025	Anal stenosis
OMIM:147920	KMT2D	8085	HP:0000252	Microcephaly
OMIM:147920	KMT2D	8085	HP:0000218	High palate
OMIM:147920	KMT2D	8085	HP:0000054	Micropenis
OMIM:147920	KMT2D	8085	HP:0000592	Blue sclerae
OMIM:147920	KMT2D	8085	HP:0005218	Anoperineal fistula
OMIM:147920	KMT2D	8085	HP:0004736	Crossed fused renal ectopia
OMIM:147920	KMT2D	8085	HP:0001007	Hirsutism
OMIM:147920	KMT2D	8085	HP:0000851	Congenital hypothyroidism
OMIM:147920	KMT2D	8085	HP:0000400	Macrotia
OMIM:147920	KMT2D	8085	HP:0001212	Prominent fingertip pads
OMIM:147920	KMT2D	8085	HP:0001878	Hemolytic anemia
OMIM:147920	KMT2D	8085	HP:0000535	Sparse and thin eyebrow
OMIM:147920	KMT2D	8085	HP:0000508	Ptosis
OMIM:147920	KMT2D	8085	HP:0001973	Autoimmune thrombocytopenia
OMIM:147920	KMT2D	8085	HP:0010314	Premature thelarche
OMIM:147920	KMT2D	8085	HP:0008872	Feeding difficulties in infancy
OMIM:147920	KMT2D	8085	HP:0002024	Malabsorption
OMIM:147920	KMT2D	8085	HP:0000175	Cleft palate
OMIM:147920	KMT2D	8085	HP:0008897	Postnatal growth retardation
OMIM:147920	KMT2D	8085	HP:0001263	Global developmental delay
OMIM:147920	KMT2D	8085	HP:0000431	Wide nasal bridge
OMIM:147920	KMT2D	8085	HP:0001374	Congenital hip dislocation
OMIM:147920	KMT2D	8085	HP:0007655	Eversion of lateral third of lower eyelids
OMIM:147920	KMT2D	8085	HP:0001629	Ventricular septal defect
OMIM:147920	KMT2D	8085	HP:0003468	Abnormal vertebral morphology
OMIM:147920	KMT2D	8085	HP:0000637	Long palpebral fissure
OMIM:147920	KMT2D	8085	HP:0001680	Coarctation of aorta
OMIM:147920	KMT2D	8085	HP:0004322	Short stature
OMIM:147920	KMT2D	8085	HP:0000028	Cryptorchidism
OMIM:147920	KMT2D	8085	HP:0002553	Highly arched eyebrow
OMIM:147920	KMT2D	8085	HP:0004467	Preauricular pit
OMIM:147920	KMT2D	8085	HP:0001290	Generalized hypotonia
OMIM:147920	KMT2D	8085	HP:0002100	Recurrent aspiration pneumonia
OMIM:147920	KMT2D	8085	HP:0001382	Joint hypermobility
OMIM:147920	KMT2D	8085	HP:0001250	Seizures
OMIM:147920	KMT2D	8085	HP:0001249	Intellectual disability
OMIM:147920	KMT2D	8085	HP:0000074	Ureteropelvic junction obstruction
OMIM:147920	KMT2D	8085	HP:0000365	Hearing impairment
OMIM:147920	KMT2D	8085	HP:0000486	Strabismus
OMIM:147920	KMT2D	8085	HP:0001631	Atrial septal defect
OMIM:147920	KMT2D	8085	HP:0000164	Abnormality of the dentition
OMIM:147920	KMT2D	8085	HP:0000437	Depressed nasal tip
OMIM:147920	KMT2D	8085	HP:0000957	Cafe-au-lait spot
OMIM:147920	KMT2D	8085	HP:0002650	Scoliosis
OMIM:147920	KDM6A	7403	HP:0011231	Prominent eyelashes
OMIM:147920	KDM6A	7403	HP:0000006	Autosomal dominant inheritance
OMIM:147920	KDM6A	7403	HP:0000403	Recurrent otitis media
OMIM:147920	KDM6A	7403	HP:0000358	Posteriorly rotated ears
OMIM:147920	KDM6A	7403	HP:0002023	Anal atresia
OMIM:147920	KDM6A	7403	HP:0002566	Intestinal malrotation
OMIM:147920	KDM6A	7403	HP:0009237	Short 5th finger
OMIM:147920	KDM6A	7403	HP:0002025	Anal stenosis
OMIM:147920	KDM6A	7403	HP:0000252	Microcephaly
OMIM:147920	KDM6A	7403	HP:0000218	High palate
OMIM:147920	KDM6A	7403	HP:0000054	Micropenis
OMIM:147920	KDM6A	7403	HP:0000592	Blue sclerae
OMIM:147920	KDM6A	7403	HP:0005218	Anoperineal fistula
OMIM:147920	KDM6A	7403	HP:0004736	Crossed fused renal ectopia
OMIM:147920	KDM6A	7403	HP:0001007	Hirsutism
OMIM:147920	KDM6A	7403	HP:0000851	Congenital hypothyroidism
OMIM:147920	KDM6A	7403	HP:0000400	Macrotia
OMIM:147920	KDM6A	7403	HP:0001212	Prominent fingertip pads
OMIM:147920	KDM6A	7403	HP:0001878	Hemolytic anemia
OMIM:147920	KDM6A	7403	HP:0000535	Sparse and thin eyebrow
OMIM:147920	KDM6A	7403	HP:0000508	Ptosis
OMIM:147920	KDM6A	7403	HP:0001973	Autoimmune thrombocytopenia
OMIM:147920	KDM6A	7403	HP:0010314	Premature thelarche
OMIM:147920	KDM6A	7403	HP:0008872	Feeding difficulties in infancy
OMIM:147920	KDM6A	7403	HP:0002024	Malabsorption
OMIM:147920	KDM6A	7403	HP:0000175	Cleft palate
OMIM:147920	KDM6A	7403	HP:0008897	Postnatal growth retardation
OMIM:147920	KDM6A	7403	HP:0001263	Global developmental delay
OMIM:147920	KDM6A	7403	HP:0000431	Wide nasal bridge
OMIM:147920	KDM6A	7403	HP:0001374	Congenital hip dislocation
OMIM:147920	KDM6A	7403	HP:0007655	Eversion of lateral third of lower eyelids
OMIM:147920	KDM6A	7403	HP:0001629	Ventricular septal defect
OMIM:147920	KDM6A	7403	HP:0003468	Abnormal vertebral morphology
OMIM:147920	KDM6A	7403	HP:0000637	Long palpebral fissure
OMIM:147920	KDM6A	7403	HP:0001680	Coarctation of aorta
OMIM:147920	KDM6A	7403	HP:0004322	Short stature
OMIM:147920	KDM6A	7403	HP:0000028	Cryptorchidism
OMIM:147920	KDM6A	7403	HP:0002553	Highly arched eyebrow
OMIM:147920	KDM6A	7403	HP:0004467	Preauricular pit
OMIM:147920	KDM6A	7403	HP:0001290	Generalized hypotonia
OMIM:147920	KDM6A	7403	HP:0002100	Recurrent aspiration pneumonia
OMIM:147920	KDM6A	7403	HP:0001382	Joint hypermobility
OMIM:147920	KDM6A	7403	HP:0001250	Seizures
OMIM:147920	KDM6A	7403	HP:0001249	Intellectual disability
OMIM:147920	KDM6A	7403	HP:0000074	Ureteropelvic junction obstruction
OMIM:147920	KDM6A	7403	HP:0000365	Hearing impairment
OMIM:147920	KDM6A	7403	HP:0000486	Strabismus
OMIM:147920	KDM6A	7403	HP:0001631	Atrial septal defect
OMIM:147920	KDM6A	7403	HP:0000164	Abnormality of the dentition
OMIM:147920	KDM6A	7403	HP:0000437	Depressed nasal tip
OMIM:147920	KDM6A	7403	HP:0000957	Cafe-au-lait spot
OMIM:147920	KDM6A	7403	HP:0002650	Scoliosis
OMIM:611584	SOX10	6663	HP:0001276	Hypertonia
OMIM:611584	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:611584	SOX10	6663	HP:0001425	Heterogeneous
OMIM:611584	SOX10	6663	HP:0007676	Hypoplasia of the iris
OMIM:611584	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:611584	SOX10	6663	HP:0011379	Dilated vestibule of the inner ear
OMIM:611584	SOX10	6663	HP:0002211	White forelock
OMIM:611584	SOX10	6663	HP:0003812	Phenotypic variability
OMIM:611584	SOX10	6663	HP:0008936	Muscular hypotonia of the trunk
OMIM:611584	SOX10	6663	HP:0000635	Blue irides
OMIM:611584	SOX10	6663	HP:0000767	Pectus excavatum
OMIM:611584	SOX10	6663	HP:0007894	Hypopigmentation of the fundus
OMIM:611584	SOX10	6663	HP:0002227	White eyelashes
OMIM:611584	SOX10	6663	HP:0001263	Global developmental delay
OMIM:611584	SOX10	6663	HP:0000957	Cafe-au-lait spot
OMIM:611584	SOX10	6663	HP:0002226	White eyebrow
OMIM:611584	SOX10	6663	HP:0006808	Cerebral hypomyelination
OMIM:611584	SOX10	6663	HP:0011381	Aplasia of the semicircular canal
OMIM:611584	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:611584	SOX10	6663	HP:0000639	Nystagmus
OMIM:611584	SOX10	6663	HP:0001249	Intellectual disability
OMIM:611584	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:611584	SOX10	6663	HP:0011382	Hypoplasia of the semicircular canal
OMIM:611584	SOX10	6663	HP:0001053	Hypopigmented skin patches
ORPHA:2609	FOXRED1	55572	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS7	374291	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFA1	4694	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFAF4	29078	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFAF5	79133	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFAF1	51103	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NUBPL	80224	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFB3	4709	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFAF2	91942	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFB9	4715	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFB10	4716	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS1	4719	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS2	4720	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS3	4722	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFV1	4723	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS4	4724	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS6	4726	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	ND1	4535	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	TMEM126B	55863	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	ND2	4536	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFS8	4728	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	ND3	4537	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFV2	4729	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFA11	126328	HP:0008316	Abnormal mitochondria in muscle tissue
ORPHA:2609	NDUFAF3	25915	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:186200	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:186200	LMBR1	64327	HP:0004691	2-3 toe syndactyly
OMIM:186200	LMBR1	64327	HP:0006088	1-5 finger complete cutaneous syndactyly
OMIM:186200	LMBR1	64327	HP:0001501	6 metacarpals
OMIM:186200	LMBR1	64327	HP:0005917	Supernumerary metacarpal bones
OMIM:186200	LMBR1	64327	HP:0010708	1-5 finger syndactyly
OMIM:186200	LMBR1	64327	HP:0010442	Polydactyly
OMIM:186200	LMBR1	64327	HP:0001199	Triphalangeal thumb
ORPHA:1065	PAX6	5080	HP:0000526	Aniridia
ORPHA:1065	PAX6	5080	HP:0001263	Global developmental delay
ORPHA:1065	PAX6	5080	HP:0100022	Abnormality of movement
ORPHA:1065	PAX6	5080	HP:0001252	Muscular hypotonia
ORPHA:1065	PAX6	5080	HP:0001251	Ataxia
ORPHA:1065	PAX6	5080	HP:0002168	Scanning speech
ORPHA:1065	PAX6	5080	HP:0000298	Mask-like facies
ORPHA:1065	PAX6	5080	HP:0001249	Intellectual disability
ORPHA:1065	ITPR1	3708	HP:0000526	Aniridia
ORPHA:1065	ITPR1	3708	HP:0001263	Global developmental delay
ORPHA:1065	ITPR1	3708	HP:0100022	Abnormality of movement
ORPHA:1065	ITPR1	3708	HP:0001252	Muscular hypotonia
ORPHA:1065	ITPR1	3708	HP:0001251	Ataxia
ORPHA:1065	ITPR1	3708	HP:0002168	Scanning speech
ORPHA:1065	ITPR1	3708	HP:0000298	Mask-like facies
ORPHA:1065	ITPR1	3708	HP:0001249	Intellectual disability
ORPHA:93384	BMPR1B	658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal
ORPHA:93384	BMPR1B	658	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb
ORPHA:93384	BMPR1B	658	HP:0010743	Short metatarsal
ORPHA:93384	BMPR1B	658	HP:0010579	Cone-shaped epiphysis
ORPHA:93384	BMPR1B	658	HP:0005819	Short middle phalanx of finger
ORPHA:93384	BMPR1B	658	HP:0009606	Complete duplication of distal phalanx of the thumb
ORPHA:93384	BMPR1B	658	HP:0009465	Ulnar deviation of finger
ORPHA:93384	BMPR1B	658	HP:0001231	Abnormality of the fingernails
ORPHA:93384	BMPR1B	658	HP:0009373	Type C brachydactyly
ORPHA:93384	BMPR1B	658	HP:0009495	Pseudoepiphyses of the 2nd finger
ORPHA:93384	GDF5	8200	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal
ORPHA:93384	GDF5	8200	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb
ORPHA:93384	GDF5	8200	HP:0010743	Short metatarsal
ORPHA:93384	GDF5	8200	HP:0010579	Cone-shaped epiphysis
ORPHA:93384	GDF5	8200	HP:0005819	Short middle phalanx of finger
ORPHA:93384	GDF5	8200	HP:0009606	Complete duplication of distal phalanx of the thumb
ORPHA:93384	GDF5	8200	HP:0009465	Ulnar deviation of finger
ORPHA:93384	GDF5	8200	HP:0001231	Abnormality of the fingernails
ORPHA:93384	GDF5	8200	HP:0009373	Type C brachydactyly
ORPHA:93384	GDF5	8200	HP:0009495	Pseudoepiphyses of the 2nd finger
OMIM:609053	FANCI	55215	HP:0000007	Autosomal recessive inheritance
ORPHA:199318	CHRNA7	1139	HP:0001263	Global developmental delay
ORPHA:199318	CHRNA7	1139	HP:0001249	Intellectual disability
OMIM:162900	FGFR3	2261	HP:0001054	Numerous nevi
OMIM:162900	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:162900	FGFR3	2261	HP:0000995	Melanocytic nevus
OMIM:162900	PIK3CA	5290	HP:0001054	Numerous nevi
OMIM:162900	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:162900	PIK3CA	5290	HP:0000995	Melanocytic nevus
OMIM:162900	NRAS	4893	HP:0001054	Numerous nevi
OMIM:162900	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:162900	NRAS	4893	HP:0000995	Melanocytic nevus
OMIM:180105	IMPDH1	3614	HP:0003593	Infantile onset
OMIM:180105	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:180105	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:180105	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:180105	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:609056	ST3GAL5	8869	HP:0100704	Cortical visual impairment
OMIM:609056	ST3GAL5	8869	HP:0006834	Developmental stagnation at onset of seizures
OMIM:609056	ST3GAL5	8869	HP:0000572	Visual loss
OMIM:609056	ST3GAL5	8869	HP:0002376	Developmental regression
OMIM:609056	ST3GAL5	8869	HP:0000737	Irritability
OMIM:609056	ST3GAL5	8869	HP:0000648	Optic atrophy
OMIM:609056	ST3GAL5	8869	HP:0008872	Feeding difficulties in infancy
OMIM:609056	ST3GAL5	8869	HP:0001263	Global developmental delay
OMIM:609056	ST3GAL5	8869	HP:0002013	Vomiting
OMIM:609056	ST3GAL5	8869	HP:0002283	Global brain atrophy
OMIM:609056	ST3GAL5	8869	HP:0001344	Absent speech
OMIM:609056	ST3GAL5	8869	HP:0002069	Generalized tonic-clonic seizures
OMIM:609056	ST3GAL5	8869	HP:0001336	Myoclonus
OMIM:609056	ST3GAL5	8869	HP:0012391	Hyporeflexia of upper limbs
OMIM:609056	ST3GAL5	8869	HP:0002395	Lower limb hyperreflexia
OMIM:609056	ST3GAL5	8869	HP:0001266	Choreoathetosis
OMIM:609056	ST3GAL5	8869	HP:0001034	Hypermelanotic macule
OMIM:609056	ST3GAL5	8869	HP:0002133	Status epilepticus
OMIM:609056	ST3GAL5	8869	HP:0000007	Autosomal recessive inheritance
OMIM:609056	ST3GAL5	8869	HP:0001290	Generalized hypotonia
OMIM:609056	ST3GAL5	8869	HP:0001508	Failure to thrive
OMIM:253280	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:253280	POMGNT1	55624	HP:0001250	Seizures
OMIM:253280	POMGNT1	55624	HP:0011344	Severe global developmental delay
OMIM:253280	POMGNT1	55624	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:253280	POMGNT1	55624	HP:0000518	Cataract
OMIM:253280	POMGNT1	55624	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMGNT1	55624	HP:0011800	Midface retrusion
OMIM:253280	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:253280	POMGNT1	55624	HP:0001105	Retinal atrophy
OMIM:253280	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:253280	POMGNT1	55624	HP:0000486	Strabismus
OMIM:253280	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:253280	POMGNT1	55624	HP:0000347	Micrognathia
OMIM:253280	POMGNT1	55624	HP:0001257	Spasticity
OMIM:253280	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMGNT1	55624	HP:0001425	Heterogeneous
OMIM:253280	POMGNT1	55624	HP:0000639	Nystagmus
OMIM:253280	POMGNT1	55624	HP:0002353	EEG abnormality
OMIM:253280	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:253280	POMGNT1	55624	HP:0001336	Myoclonus
OMIM:253280	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:253280	POMGNT1	55624	HP:0000485	Megalocornea
OMIM:253280	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:253280	POMGNT1	55624	HP:0001290	Generalized hypotonia
OMIM:253280	POMGNT1	55624	HP:0001324	Muscle weakness
OMIM:253280	POMGNT1	55624	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:253280	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:253280	POMGNT1	55624	HP:0010864	Intellectual disability, severe
OMIM:253280	POMGNT1	55624	HP:0000980	Pallor
OMIM:253280	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:253280	POMGNT1	55624	HP:0003812	Phenotypic variability
OMIM:253280	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMGNT1	55624	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMGNT1	55624	HP:0003194	Short nasal bridge
OMIM:253280	POMGNT1	55624	HP:0000589	Coloboma
OMIM:253280	POMGNT1	55624	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMGNT1	55624	HP:0008012	Congenital myopia
OMIM:253280	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMGNT1	55624	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMGNT1	55624	HP:0003324	Generalized muscle weakness
OMIM:253280	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:253280	POMGNT1	55624	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMGNT1	55624	HP:0000272	Malar flattening
OMIM:253280	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:253280	POMGNT1	55624	HP:0000557	Buphthalmos
OMIM:229600	ALDOB	229	HP:0003109	Hyperphosphaturia
OMIM:229600	ALDOB	229	HP:0002049	Proximal renal tubular acidosis
OMIM:229600	ALDOB	229	HP:0001394	Cirrhosis
OMIM:229600	ALDOB	229	HP:0002013	Vomiting
OMIM:229600	ALDOB	229	HP:0001943	Hypoglycemia
OMIM:229600	ALDOB	229	HP:0002148	Hypophosphatemia
OMIM:229600	ALDOB	229	HP:0002910	Elevated hepatic transaminases
OMIM:229600	ALDOB	229	HP:0000114	Proximal tubulopathy
OMIM:229600	ALDOB	229	HP:0002240	Hepatomegaly
OMIM:229600	ALDOB	229	HP:0003149	Hyperuricosuria
OMIM:229600	ALDOB	229	HP:0000007	Autosomal recessive inheritance
OMIM:229600	ALDOB	229	HP:0004395	Malnutrition
OMIM:229600	ALDOB	229	HP:0005973	Fructose intolerance
OMIM:229600	ALDOB	229	HP:0001250	Seizures
OMIM:229600	ALDOB	229	HP:0002239	Gastrointestinal hemorrhage
OMIM:229600	ALDOB	229	HP:0002149	Hyperuricemia
OMIM:229600	ALDOB	229	HP:0003128	Lactic acidosis
OMIM:229600	ALDOB	229	HP:0003646	Bicarbonaturia
OMIM:229600	ALDOB	229	HP:0001254	Lethargy
OMIM:229600	ALDOB	229	HP:0001259	Coma
OMIM:229600	ALDOB	229	HP:0001942	Metabolic acidosis
OMIM:229600	ALDOB	229	HP:0000952	Jaundice
OMIM:229600	ALDOB	229	HP:0001249	Intellectual disability
OMIM:229600	ALDOB	229	HP:0002018	Nausea
OMIM:229600	ALDOB	229	HP:0008273	Transient aminoaciduria
OMIM:229600	ALDOB	229	HP:0002027	Abdominal pain
OMIM:229600	ALDOB	229	HP:0002904	Hyperbilirubinemia
OMIM:229600	ALDOB	229	HP:0001508	Failure to thrive
OMIM:229600	ALDOB	229	HP:0001397	Hepatic steatosis
OMIM:229600	ALDOB	229	HP:0003076	Glycosuria
ORPHA:93346	COL2A1	1280	HP:0000766	Abnormality of the sternum
ORPHA:93346	COL2A1	1280	HP:0000545	Myopia
ORPHA:93346	COL2A1	1280	HP:0002812	Coxa vara
ORPHA:93346	COL2A1	1280	HP:0012368	Flat face
ORPHA:93346	COL2A1	1280	HP:0003307	Hyperlordosis
ORPHA:93346	COL2A1	1280	HP:0000541	Retinal detachment
ORPHA:93346	COL2A1	1280	HP:0002651	Spondyloepimetaphyseal dysplasia
ORPHA:93346	COL2A1	1280	HP:0002857	Genu valgum
ORPHA:93346	COL2A1	1280	HP:0100864	Short femoral neck
ORPHA:93346	COL2A1	1280	HP:0002983	Micromelia
ORPHA:93346	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:93346	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93346	COL2A1	1280	HP:0010306	Short thorax
ORPHA:93346	COL2A1	1280	HP:0002808	Kyphosis
ORPHA:93346	COL2A1	1280	HP:0000175	Cleft palate
ORPHA:93346	COL2A1	1280	HP:0001288	Gait disturbance
ORPHA:93346	COL2A1	1280	HP:0000944	Abnormality of the metaphysis
ORPHA:93346	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHA:93346	COL2A1	1280	HP:0000316	Hypertelorism
ORPHA:93346	COL2A1	1280	HP:0003498	Disproportionate short stature
ORPHA:285	TNXB	7148	HP:0001763	Pes planus
ORPHA:285	TNXB	7148	HP:0011675	Arrhythmia
ORPHA:285	TNXB	7148	HP:0001063	Acrocyanosis
ORPHA:285	TNXB	7148	HP:0002829	Arthralgia
ORPHA:285	TNXB	7148	HP:0000716	Depressivity
ORPHA:285	TNXB	7148	HP:0000963	Thin skin
ORPHA:285	TNXB	7148	HP:0002076	Migraine
ORPHA:285	TNXB	7148	HP:0002645	Wormian bones
ORPHA:285	TNXB	7148	HP:0002024	Malabsorption
ORPHA:285	TNXB	7148	HP:0002321	Vertigo
ORPHA:285	TNXB	7148	HP:0000762	Decreased nerve conduction velocity
ORPHA:285	TNXB	7148	HP:0002019	Constipation
ORPHA:285	TNXB	7148	HP:0000974	Hyperextensible skin
ORPHA:285	TNXB	7148	HP:0002360	Sleep disturbance
ORPHA:285	TNXB	7148	HP:0003042	Elbow dislocation
ORPHA:285	TNXB	7148	HP:0003326	Myalgia
ORPHA:285	TNXB	7148	HP:0002827	Hip dislocation
ORPHA:285	TNXB	7148	HP:0012378	Fatigue
ORPHA:285	TNXB	7148	HP:0000977	Soft skin
ORPHA:285	TNXB	7148	HP:0005692	Joint hyperflexibility
ORPHA:285	TNXB	7148	HP:0002017	Nausea and vomiting
ORPHA:285	TNXB	7148	HP:0002758	Osteoarthritis
OMIM:614025	LIPC	3990	HP:0000007	Autosomal recessive inheritance
OMIM:614025	LIPC	3990	HP:0001013	Eruptive xanthomas
OMIM:614025	LIPC	3990	HP:0001681	Angina pectoris
OMIM:615041	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:615041	TMEM5	10329	HP:0000133	Gonadal dysgenesis
OMIM:615041	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:615041	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:615041	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:615041	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:615327	POFUT1	23509	HP:0007588	Reticular hyperpigmentation
OMIM:615327	POFUT1	23509	HP:0000006	Autosomal dominant inheritance
OMIM:615327	POFUT1	23509	HP:0009719	Hypomelanotic macule
OMIM:615327	POFUT1	23509	HP:0007502	Follicular hyperkeratosis
OMIM:612527	RPS17	6218	HP:0012133	Erythroid hypoplasia
OMIM:612527	RPS17	6218	HP:0004322	Short stature
OMIM:612527	RPS17	6218	HP:0001999	Abnormal facial shape
OMIM:612527	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612527	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS17	6218	HP:0001631	Atrial septal defect
OMIM:612527	RPS17	6218	HP:0001875	Neutropenia
OMIM:612527	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:615916	RAF1	5894	HP:0001653	Mitral regurgitation
OMIM:615916	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615916	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:607459	POLG	5428	HP:0001336	Myoclonus
OMIM:607459	POLG	5428	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:607459	POLG	5428	HP:0003557	Increased variability in muscle fiber diameter
OMIM:607459	POLG	5428	HP:0003713	Muscle fiber necrosis
OMIM:607459	POLG	5428	HP:0001284	Areflexia
OMIM:607459	POLG	5428	HP:0002403	Positive Romberg sign
OMIM:607459	POLG	5428	HP:0000639	Nystagmus
OMIM:607459	POLG	5428	HP:0003390	Sensory axonal neuropathy
OMIM:607459	POLG	5428	HP:0007240	Progressive gait ataxia
OMIM:607459	POLG	5428	HP:0006858	Impaired distal proprioception
OMIM:607459	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:607459	POLG	5428	HP:0001644	Dilated cardiomyopathy
OMIM:607459	POLG	5428	HP:0000590	Progressive external ophthalmoplegia
OMIM:607459	POLG	5428	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:607459	POLG	5428	HP:0001250	Seizures
OMIM:607459	POLG	5428	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:607459	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:607459	POLG	5428	HP:0001260	Dysarthria
OMIM:607459	POLG	5428	HP:0003581	Adult onset
OMIM:607459	POLG	5428	HP:0000716	Depressivity
OMIM:607459	POLG	5428	HP:0003701	Proximal muscle weakness
OMIM:607459	POLG	5428	HP:0003812	Phenotypic variability
OMIM:607459	POLG	5428	HP:0003434	Sensory ataxic neuropathy
OMIM:607459	POLG	5428	HP:0007344	Atrophy/Degeneration involving the spinal cord
OMIM:607459	POLG	5428	HP:0000508	Ptosis
OMIM:607459	POLG	5428	HP:0002076	Migraine
OMIM:607459	POLG	5428	HP:0100543	Cognitive impairment
OMIM:607459	POLG	5428	HP:0001751	Vestibular dysfunction
OMIM:607459	POLG	5428	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:607459	POLG	5428	HP:0001265	Hyporeflexia
OMIM:607459	POLG	5428	HP:0002578	Gastroparesis
OMIM:607459	POLG	5428	HP:0006886	Impaired distal vibration sensation
OMIM:607459	POLG	5428	HP:0004389	Intestinal pseudo-obstruction
OMIM:607459	POLG	5428	HP:0003200	Ragged-red muscle fibers
OMIM:607459	POLG	5428	HP:0002151	Increased serum lactate
OMIM:607459	TWNK	56652	HP:0001336	Myoclonus
OMIM:607459	TWNK	56652	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:607459	TWNK	56652	HP:0003557	Increased variability in muscle fiber diameter
OMIM:607459	TWNK	56652	HP:0003713	Muscle fiber necrosis
OMIM:607459	TWNK	56652	HP:0001284	Areflexia
OMIM:607459	TWNK	56652	HP:0002403	Positive Romberg sign
OMIM:607459	TWNK	56652	HP:0000639	Nystagmus
OMIM:607459	TWNK	56652	HP:0003390	Sensory axonal neuropathy
OMIM:607459	TWNK	56652	HP:0007240	Progressive gait ataxia
OMIM:607459	TWNK	56652	HP:0006858	Impaired distal proprioception
OMIM:607459	TWNK	56652	HP:0000007	Autosomal recessive inheritance
OMIM:607459	TWNK	56652	HP:0001644	Dilated cardiomyopathy
OMIM:607459	TWNK	56652	HP:0000590	Progressive external ophthalmoplegia
OMIM:607459	TWNK	56652	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:607459	TWNK	56652	HP:0001250	Seizures
OMIM:607459	TWNK	56652	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:607459	TWNK	56652	HP:0000407	Sensorineural hearing impairment
OMIM:607459	TWNK	56652	HP:0001260	Dysarthria
OMIM:607459	TWNK	56652	HP:0003581	Adult onset
OMIM:607459	TWNK	56652	HP:0000716	Depressivity
OMIM:607459	TWNK	56652	HP:0003701	Proximal muscle weakness
OMIM:607459	TWNK	56652	HP:0003812	Phenotypic variability
OMIM:607459	TWNK	56652	HP:0003434	Sensory ataxic neuropathy
OMIM:607459	TWNK	56652	HP:0007344	Atrophy/Degeneration involving the spinal cord
OMIM:607459	TWNK	56652	HP:0000508	Ptosis
OMIM:607459	TWNK	56652	HP:0002076	Migraine
OMIM:607459	TWNK	56652	HP:0100543	Cognitive impairment
OMIM:607459	TWNK	56652	HP:0001751	Vestibular dysfunction
OMIM:607459	TWNK	56652	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:607459	TWNK	56652	HP:0001265	Hyporeflexia
OMIM:607459	TWNK	56652	HP:0002578	Gastroparesis
OMIM:607459	TWNK	56652	HP:0006886	Impaired distal vibration sensation
OMIM:607459	TWNK	56652	HP:0004389	Intestinal pseudo-obstruction
OMIM:607459	TWNK	56652	HP:0003200	Ragged-red muscle fibers
OMIM:607459	TWNK	56652	HP:0002151	Increased serum lactate
OMIM:182000	PIK3CA	5290	HP:0200043	Verrucae
OMIM:182000	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:277600	ADAMTS10	81794	HP:0002682	Broad skull
OMIM:277600	ADAMTS10	81794	HP:0000518	Cataract
OMIM:277600	ADAMTS10	81794	HP:0001642	Pulmonic stenosis
OMIM:277600	ADAMTS10	81794	HP:0001653	Mitral regurgitation
OMIM:277600	ADAMTS10	81794	HP:0001783	Broad metatarsal
OMIM:277600	ADAMTS10	81794	HP:0003508	Proportionate short stature
OMIM:277600	ADAMTS10	81794	HP:0000327	Hypoplasia of the maxilla
OMIM:277600	ADAMTS10	81794	HP:0000594	Shallow anterior chamber
OMIM:277600	ADAMTS10	81794	HP:0000189	Narrow palate
OMIM:277600	ADAMTS10	81794	HP:0001169	Broad palm
OMIM:277600	ADAMTS10	81794	HP:0003416	Spinal canal stenosis
OMIM:277600	ADAMTS10	81794	HP:0009768	Broad phalanges of the hand
OMIM:277600	ADAMTS10	81794	HP:0011003	Severe Myopia
OMIM:277600	ADAMTS10	81794	HP:0030961	Microspherophakia
OMIM:277600	ADAMTS10	81794	HP:0001643	Patent ductus arteriosus
OMIM:277600	ADAMTS10	81794	HP:0002650	Scoliosis
OMIM:277600	ADAMTS10	81794	HP:0005280	Depressed nasal bridge
OMIM:277600	ADAMTS10	81794	HP:0001387	Joint stiffness
OMIM:277600	ADAMTS10	81794	HP:0000885	Broad ribs
OMIM:277600	ADAMTS10	81794	HP:0000248	Brachycephaly
OMIM:277600	ADAMTS10	81794	HP:0000586	Shallow orbits
OMIM:277600	ADAMTS10	81794	HP:0002938	Lumbar hyperlordosis
OMIM:277600	ADAMTS10	81794	HP:0001156	Brachydactyly
OMIM:277600	ADAMTS10	81794	HP:0001629	Ventricular septal defect
OMIM:277600	ADAMTS10	81794	HP:0000692	Misalignment of teeth
OMIM:277600	ADAMTS10	81794	HP:0000501	Glaucoma
OMIM:277600	ADAMTS10	81794	HP:0001083	Ectopia lentis
OMIM:277600	ADAMTS10	81794	HP:0000618	Blindness
OMIM:277600	ADAMTS10	81794	HP:0001650	Aortic valve stenosis
OMIM:277600	ADAMTS10	81794	HP:0006482	Abnormality of dental morphology
OMIM:277600	ADAMTS10	81794	HP:0000007	Autosomal recessive inheritance
OMIM:277600	ADAMTS10	81794	HP:0001230	Broad metacarpals
OMIM:277600	ADAMTS10	81794	HP:0002753	Thin bony cortex
ORPHA:77297	LPIN2	9663	HP:0004326	Cachexia
ORPHA:77297	LPIN2	9663	HP:0011001	Increased bone mineral density
ORPHA:77297	LPIN2	9663	HP:0200034	Papule
ORPHA:77297	LPIN2	9663	HP:0004840	Hypochromic microcytic anemia
ORPHA:77297	LPIN2	9663	HP:0004810	Congenital hypoplastic anemia
ORPHA:77297	LPIN2	9663	HP:0000969	Edema
ORPHA:77297	LPIN2	9663	HP:0002829	Arthralgia
ORPHA:77297	LPIN2	9663	HP:0003025	Metaphyseal irregularity
ORPHA:77297	LPIN2	9663	HP:0100769	Synovitis
ORPHA:77297	LPIN2	9663	HP:0002315	Headache
ORPHA:77297	LPIN2	9663	HP:0001945	Fever
ORPHA:77297	LPIN2	9663	HP:0001061	Acne
ORPHA:77297	LPIN2	9663	HP:0001974	Leukocytosis
ORPHA:77297	LPIN2	9663	HP:0005901	Chronic recurrent multifocal osteomyelitis
ORPHA:77297	LPIN2	9663	HP:0005561	Abnormality of bone marrow cell morphology
ORPHA:77297	LPIN2	9663	HP:0001508	Failure to thrive
ORPHA:77297	LPIN2	9663	HP:0002653	Bone pain
ORPHA:77297	LPIN2	9663	HP:0200039	Pustule
ORPHA:77297	LPIN2	9663	HP:0003326	Myalgia
ORPHA:77297	LPIN2	9663	HP:0001744	Splenomegaly
ORPHA:77297	LPIN2	9663	HP:0002240	Hepatomegaly
OMIM:609152	TSHR	7253	HP:0000750	Delayed speech and language development
OMIM:609152	TSHR	7253	HP:0000853	Goiter
OMIM:609152	TSHR	7253	HP:0000836	Hyperthyroidism
OMIM:609152	TSHR	7253	HP:0001649	Tachycardia
OMIM:609152	TSHR	7253	HP:0001249	Intellectual disability
OMIM:609152	TSHR	7253	HP:0005616	Accelerated skeletal maturation
OMIM:609152	TSHR	7253	HP:0001622	Premature birth
OMIM:609152	TSHR	7253	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:609152	TSHR	7253	HP:0000752	Hyperactivity
OMIM:609152	TSHR	7253	HP:0001518	Small for gestational age
OMIM:609152	TSHR	7253	HP:0000006	Autosomal dominant inheritance
OMIM:609152	TSHR	7253	HP:0008249	Thyroid hyperplasia
OMIM:609152	TSHR	7253	HP:0001270	Motor delay
OMIM:609152	TSHR	7253	HP:0003745	Sporadic
OMIM:616340	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:616340	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:616340	OSBPL2	9885	HP:0003812	Phenotypic variability
OMIM:616340	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:300004	ARX	170302	HP:0000218	High palate
OMIM:300004	ARX	170302	HP:0001250	Seizures
OMIM:300004	ARX	170302	HP:0001845	Overlapping toe
OMIM:300004	ARX	170302	HP:0002445	Tetraplegia
OMIM:300004	ARX	170302	HP:0001274	Agenesis of corpus callosum
OMIM:300004	ARX	170302	HP:0000639	Nystagmus
OMIM:300004	ARX	170302	HP:0001319	Neonatal hypotonia
OMIM:300004	ARX	170302	HP:0000294	Low anterior hairline
OMIM:300004	ARX	170302	HP:0003121	Limb joint contracture
OMIM:300004	ARX	170302	HP:0001007	Hirsutism
OMIM:300004	ARX	170302	HP:0000187	Broad alveolar ridges
OMIM:300004	ARX	170302	HP:0004322	Short stature
OMIM:300004	ARX	170302	HP:0001263	Global developmental delay
OMIM:300004	ARX	170302	HP:0001182	Tapered finger
OMIM:300004	ARX	170302	HP:0000110	Renal dysplasia
OMIM:300004	ARX	170302	HP:0000280	Coarse facial features
OMIM:300004	ARX	170302	HP:0001090	Large eyes
OMIM:300004	ARX	170302	HP:0002510	Spastic tetraplegia
OMIM:300004	ARX	170302	HP:0000648	Optic atrophy
OMIM:300004	ARX	170302	HP:0000505	Visual impairment
OMIM:300004	ARX	170302	HP:0002650	Scoliosis
OMIM:300004	ARX	170302	HP:0000486	Strabismus
OMIM:300004	ARX	170302	HP:0000047	Hypospadias
OMIM:300004	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300004	ARX	170302	HP:0001795	Hyperconvex nail
OMIM:300004	ARX	170302	HP:0000336	Prominent supraorbital ridges
OMIM:300004	ARX	170302	HP:0010864	Intellectual disability, severe
OMIM:300004	ARX	170302	HP:0006887	Intellectual disability, progressive
OMIM:300004	ARX	170302	HP:0000664	Synophrys
OMIM:300004	ARX	170302	HP:0000252	Microcephaly
OMIM:300004	ARX	170302	HP:0000411	Protruding ear
OMIM:300004	ARX	170302	HP:0000028	Cryptorchidism
OMIM:125250	OPA1	4976	HP:0003676	Progressive
OMIM:125250	OPA1	4976	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials
OMIM:125250	OPA1	4976	HP:0000603	Central scotoma
OMIM:125250	OPA1	4976	HP:0006958	Abnormal auditory evoked potentials
OMIM:125250	OPA1	4976	HP:0003198	Myopathy
OMIM:125250	OPA1	4976	HP:0003812	Phenotypic variability
OMIM:125250	OPA1	4976	HP:0000648	Optic atrophy
OMIM:125250	OPA1	4976	HP:0007663	Reduced visual acuity
OMIM:125250	OPA1	4976	HP:0009830	Peripheral neuropathy
OMIM:125250	OPA1	4976	HP:0000552	Tritanomaly
OMIM:125250	OPA1	4976	HP:0003557	Increased variability in muscle fiber diameter
OMIM:125250	OPA1	4976	HP:0000666	Horizontal nystagmus
OMIM:125250	OPA1	4976	HP:0000642	Red-green dyschromatopsia
OMIM:125250	OPA1	4976	HP:0000486	Strabismus
OMIM:125250	OPA1	4976	HP:0000408	Progressive sensorineural hearing impairment
OMIM:125250	OPA1	4976	HP:0000508	Ptosis
OMIM:125250	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:125250	OPA1	4976	HP:0000576	Centrocecal scotoma
OMIM:125250	OPA1	4976	HP:0000602	Ophthalmoplegia
OMIM:125250	OPA1	4976	HP:0000505	Visual impairment
OMIM:611498	GLIS2	84662	HP:0003774	Stage 5 chronic kidney disease
OMIM:611498	GLIS2	84662	HP:0000092	Tubular atrophy
OMIM:611498	GLIS2	84662	HP:0000007	Autosomal recessive inheritance
OMIM:611498	GLIS2	84662	HP:0000090	Nephronophthisis
OMIM:169500	LMNB1	4001	HP:0007371	Corpus callosum atrophy
OMIM:169500	LMNB1	4001	HP:0000716	Depressivity
OMIM:169500	LMNB1	4001	HP:0003487	Babinski sign
OMIM:169500	LMNB1	4001	HP:0005341	Autonomic bladder dysfunction
OMIM:169500	LMNB1	4001	HP:0003676	Progressive
OMIM:169500	LMNB1	4001	HP:0007262	Symmetric peripheral demyelination
OMIM:169500	LMNB1	4001	HP:0002171	Gliosis
OMIM:169500	LMNB1	4001	HP:0007024	Pseudobulbar paralysis
OMIM:169500	LMNB1	4001	HP:0000006	Autosomal dominant inheritance
OMIM:169500	LMNB1	4001	HP:0001251	Ataxia
OMIM:169500	LMNB1	4001	HP:0003581	Adult onset
OMIM:169500	LMNB1	4001	HP:0000751	Personality changes
OMIM:169500	LMNB1	4001	HP:0006994	Diffuse leukoencephalopathy
OMIM:169500	LMNB1	4001	HP:0002415	Leukodystrophy
OMIM:169500	LMNB1	4001	HP:0001257	Spasticity
OMIM:169500	LMNB1	4001	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
OMIM:169500	LMNB1	4001	HP:0002344	Progressive neurologic deterioration
OMIM:169500	LMNB1	4001	HP:0000079	Abnormality of the urinary system
OMIM:169500	LMNB1	4001	HP:0007480	Decreased sweating due to autonomic dysfunction
OMIM:169500	LMNB1	4001	HP:0008652	Autonomic erectile dysfunction
OMIM:169500	LMNB1	4001	HP:0000639	Nystagmus
OMIM:169500	LMNB1	4001	HP:0000802	Impotence
OMIM:169500	LMNB1	4001	HP:0001347	Hyperreflexia
OMIM:223100	MCM6	4175	HP:0002014	Diarrhea
OMIM:223100	MCM6	4175	HP:0002027	Abdominal pain
OMIM:223100	MCM6	4175	HP:0000007	Autosomal recessive inheritance
OMIM:223100	MCM6	4175	HP:0000006	Autosomal dominant inheritance
OMIM:223100	MCM6	4175	HP:0025130	Decreased small intestinal mucosa lactase activity
OMIM:223100	MCM6	4175	HP:0004789	Lactose intolerance
OMIM:610199	GLIS3	169792	HP:0001087	Congenital glaucoma
OMIM:610199	GLIS3	169792	HP:0000113	Polycystic kidney dysplasia
OMIM:610199	GLIS3	169792	HP:0001395	Hepatic fibrosis
OMIM:610199	GLIS3	169792	HP:0000819	Diabetes mellitus
OMIM:610199	GLIS3	169792	HP:0000851	Congenital hypothyroidism
OMIM:610199	GLIS3	169792	HP:0001511	Intrauterine growth retardation
OMIM:610199	GLIS3	169792	HP:0002240	Hepatomegaly
OMIM:610199	GLIS3	169792	HP:0001396	Cholestasis
OMIM:610199	GLIS3	169792	HP:0000343	Long philtrum
OMIM:610199	GLIS3	169792	HP:0001263	Global developmental delay
OMIM:610199	GLIS3	169792	HP:0001409	Portal hypertension
OMIM:610199	GLIS3	169792	HP:0000369	Low-set ears
OMIM:610199	GLIS3	169792	HP:0000286	Epicanthus
OMIM:610199	GLIS3	169792	HP:0000007	Autosomal recessive inheritance
OMIM:610199	GLIS3	169792	HP:0005280	Depressed nasal bridge
OMIM:610199	GLIS3	169792	HP:0003812	Phenotypic variability
OMIM:610199	GLIS3	169792	HP:0000107	Renal cyst
OMIM:610199	GLIS3	169792	HP:0000219	Thin upper lip vermilion
ORPHA:457	ABCA12	26154	HP:0000364	Hearing abnormality
ORPHA:457	ABCA12	26154	HP:0000457	Depressed nasal ridge
ORPHA:457	ABCA12	26154	HP:0000656	Ectropion
ORPHA:457	ABCA12	26154	HP:0001019	Erythroderma
ORPHA:457	ABCA12	26154	HP:0012472	Eclabion
ORPHA:457	ABCA12	26154	HP:0002205	Recurrent respiratory infections
ORPHA:457	ABCA12	26154	HP:0000962	Hyperkeratosis
ORPHA:457	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
ORPHA:457	ABCA12	26154	HP:0001376	Limitation of joint mobility
OMIM:617247	XRCC2	7516	HP:0011835	Absent scaphoid
OMIM:617247	XRCC2	7516	HP:0001510	Growth delay
OMIM:617247	XRCC2	7516	HP:0000007	Autosomal recessive inheritance
OMIM:617247	XRCC2	7516	HP:0000252	Microcephaly
OMIM:617247	XRCC2	7516	HP:0001643	Patent ductus arteriosus
OMIM:261100	AMN	81693	HP:0000007	Autosomal recessive inheritance
OMIM:261100	AMN	81693	HP:0000726	Dementia
OMIM:261100	AMN	81693	HP:0003474	Sensory impairment
OMIM:261100	AMN	81693	HP:0200118	Malabsorption of Vitamin B12
OMIM:261100	AMN	81693	HP:0001289	Confusion
OMIM:261100	AMN	81693	HP:0000093	Proteinuria
OMIM:261100	AMN	81693	HP:0001889	Megaloblastic anemia
OMIM:261100	AMN	81693	HP:0011463	Childhood onset
OMIM:261100	AMN	81693	HP:0003401	Paresthesia
OMIM:261100	CUBN	8029	HP:0000007	Autosomal recessive inheritance
OMIM:261100	CUBN	8029	HP:0000726	Dementia
OMIM:261100	CUBN	8029	HP:0003474	Sensory impairment
OMIM:261100	CUBN	8029	HP:0200118	Malabsorption of Vitamin B12
OMIM:261100	CUBN	8029	HP:0001289	Confusion
OMIM:261100	CUBN	8029	HP:0000093	Proteinuria
OMIM:261100	CUBN	8029	HP:0001889	Megaloblastic anemia
OMIM:261100	CUBN	8029	HP:0011463	Childhood onset
OMIM:261100	CUBN	8029	HP:0003401	Paresthesia
ORPHA:1186	TWNK	56652	HP:0000602	Ophthalmoplegia
ORPHA:1186	TWNK	56652	HP:0001251	Ataxia
ORPHA:1186	TWNK	56652	HP:0002270	Abnormality of the autonomic nervous system
ORPHA:1186	TWNK	56652	HP:0001315	Reduced tendon reflexes
ORPHA:1186	TWNK	56652	HP:0000365	Hearing impairment
ORPHA:1186	TWNK	56652	HP:0000648	Optic atrophy
ORPHA:1186	TWNK	56652	HP:0100022	Abnormality of movement
OMIM:612562	RPL11	6135	HP:0000175	Cleft palate
OMIM:612562	RPL11	6135	HP:0025116	Fetal distress
OMIM:612562	RPL11	6135	HP:0000453	Choanal atresia
OMIM:612562	RPL11	6135	HP:0001629	Ventricular septal defect
OMIM:612562	RPL11	6135	HP:0001643	Patent ductus arteriosus
OMIM:612562	RPL11	6135	HP:0100512	Vitamin D deficiency
OMIM:612562	RPL11	6135	HP:0000912	Sprengel anomaly
OMIM:612562	RPL11	6135	HP:0000938	Osteopenia
OMIM:612562	RPL11	6135	HP:0010487	Small hypothenar eminence
OMIM:612562	RPL11	6135	HP:0005518	Increased mean corpuscular volume
OMIM:612562	RPL11	6135	HP:0001684	Secundum atrial septal defect
OMIM:612562	RPL11	6135	HP:0000413	Atresia of the external auditory canal
OMIM:612562	RPL11	6135	HP:0000365	Hearing impairment
OMIM:612562	RPL11	6135	HP:0001511	Intrauterine growth retardation
OMIM:612562	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL11	6135	HP:0000403	Recurrent otitis media
OMIM:612562	RPL11	6135	HP:0009778	Short thumb
OMIM:612562	RPL11	6135	HP:0001875	Neutropenia
OMIM:612562	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612562	RPL11	6135	HP:0000939	Osteoporosis
OMIM:612562	RPL11	6135	HP:0002650	Scoliosis
OMIM:612562	RPL11	6135	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL11	6135	HP:0001561	Polyhydramnios
OMIM:175780	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:175780	COL4A1	1282	HP:0003487	Babinski sign
OMIM:175780	COL4A1	1282	HP:0002301	Hemiplegia
OMIM:175780	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:175780	COL4A1	1282	HP:0002352	Leukoencephalopathy
OMIM:175780	COL4A1	1282	HP:0002132	Porencephalic cyst
OMIM:175780	COL4A1	1282	HP:0001257	Spasticity
OMIM:175780	COL4A1	1282	HP:0002140	Ischemic stroke
OMIM:175780	COL4A1	1282	HP:0001272	Cerebellar atrophy
OMIM:175780	COL4A1	1282	HP:0001123	Visual field defect
OMIM:175780	COL4A1	1282	HP:0002451	Limb dystonia
OMIM:175780	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:175780	COL4A1	1282	HP:0000577	Exotropia
OMIM:175780	COL4A1	1282	HP:0002273	Tetraparesis
OMIM:175780	COL4A1	1282	HP:0001249	Intellectual disability
OMIM:175780	COL4A1	1282	HP:0010636	Schizencephaly
OMIM:175780	COL4A1	1282	HP:0001878	Hemolytic anemia
OMIM:175780	COL4A1	1282	HP:0003828	Variable expressivity
OMIM:175780	COL4A1	1282	HP:0007209	Facial paralysis
OMIM:175780	COL4A1	1282	HP:0001250	Seizures
ORPHA:97927	THRA	7067	HP:0000158	Macroglossia
ORPHA:97927	THRA	7067	HP:0011968	Feeding difficulties
ORPHA:97927	THRA	7067	HP:0000280	Coarse facial features
ORPHA:97927	THRA	7067	HP:0003270	Abdominal distention
ORPHA:97927	THRA	7067	HP:0000952	Jaundice
ORPHA:97927	THRA	7067	HP:0001252	Muscular hypotonia
ORPHA:97927	THRA	7067	HP:0002360	Sleep disturbance
ORPHA:97927	THRA	7067	HP:0002019	Constipation
ORPHA:97927	THRA	7067	HP:0000821	Hypothyroidism
ORPHA:97927	THRA	7067	HP:0000239	Large fontanelles
ORPHA:97927	THRA	7067	HP:0001537	Umbilical hernia
ORPHA:97927	THRB	7068	HP:0000158	Macroglossia
ORPHA:97927	THRB	7068	HP:0011968	Feeding difficulties
ORPHA:97927	THRB	7068	HP:0000280	Coarse facial features
ORPHA:97927	THRB	7068	HP:0003270	Abdominal distention
ORPHA:97927	THRB	7068	HP:0000952	Jaundice
ORPHA:97927	THRB	7068	HP:0001252	Muscular hypotonia
ORPHA:97927	THRB	7068	HP:0002360	Sleep disturbance
ORPHA:97927	THRB	7068	HP:0002019	Constipation
ORPHA:97927	THRB	7068	HP:0000821	Hypothyroidism
ORPHA:97927	THRB	7068	HP:0000239	Large fontanelles
ORPHA:97927	THRB	7068	HP:0001537	Umbilical hernia
OMIM:613095	PKD2	5311	HP:0003676	Progressive
OMIM:613095	PKD2	5311	HP:0003829	Incomplete penetrance
OMIM:613095	PKD2	5311	HP:0000010	Recurrent urinary tract infections
OMIM:613095	PKD2	5311	HP:0003259	Elevated serum creatinine
OMIM:613095	PKD2	5311	HP:0000083	Renal insufficiency
OMIM:613095	PKD2	5311	HP:0000006	Autosomal dominant inheritance
OMIM:613095	PKD2	5311	HP:0003774	Stage 5 chronic kidney disease
OMIM:613095	PKD2	5311	HP:0000113	Polycystic kidney dysplasia
OMIM:615888	RASGRP2	10235	HP:0000007	Autosomal recessive inheritance
OMIM:615888	RASGRP2	10235	HP:0003593	Infantile onset
OMIM:615888	RASGRP2	10235	HP:0000421	Epistaxis
OMIM:615888	RASGRP2	10235	HP:0003010	Prolonged bleeding time
OMIM:603358	BCS1L	617	HP:0003281	Increased serum ferritin
OMIM:603358	BCS1L	617	HP:0003542	Increased serum pyruvate
OMIM:603358	BCS1L	617	HP:0004925	Chronic lactic acidosis
OMIM:603358	BCS1L	617	HP:0001511	Intrauterine growth retardation
OMIM:603358	BCS1L	617	HP:0003452	Increased serum iron
OMIM:227300	LMAN1	3998	HP:0000007	Autosomal recessive inheritance
OMIM:227300	LMAN1	3998	HP:0001892	Abnormal bleeding
OMIM:227300	LMAN1	3998	HP:0003125	Reduced factor VIII activity
OMIM:227300	LMAN1	3998	HP:0003225	Reduced factor V activity
OMIM:300985	ADGRG2	10149	HP:0012873	Absent vas deferens
OMIM:300985	ADGRG2	10149	HP:0000027	Azoospermia
OMIM:300985	ADGRG2	10149	HP:0001417	X-linked inheritance
OMIM:614028	APOC3	345	HP:0012184	Increased circulating high-density lipoprotein levels
OMIM:614028	APOC3	345	HP:0012153	Hypotriglyceridemia
OMIM:614028	APOC3	345	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:605726	RAX2	84839	HP:0001765	Hammertoe
OMIM:605726	RAX2	84839	HP:0001761	Pes cavus
OMIM:605726	RAX2	84839	HP:0002460	Distal muscle weakness
OMIM:605726	RAX2	84839	HP:0003487	Babinski sign
OMIM:605726	RAX2	84839	HP:0001265	Hyporeflexia
OMIM:605726	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:605726	RAX2	84839	HP:0009027	Foot dorsiflexor weakness
OMIM:605726	RAX2	84839	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605726	RAX2	84839	HP:0003676	Progressive
OMIM:605726	RAX2	84839	HP:0003693	Distal amyotrophy
OMIM:605726	RAX2	84839	HP:0007269	Spinal muscular atrophy
OMIM:605726	SIGMAR1	10280	HP:0001765	Hammertoe
OMIM:605726	SIGMAR1	10280	HP:0001761	Pes cavus
OMIM:605726	SIGMAR1	10280	HP:0002460	Distal muscle weakness
OMIM:605726	SIGMAR1	10280	HP:0003487	Babinski sign
OMIM:605726	SIGMAR1	10280	HP:0001265	Hyporeflexia
OMIM:605726	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:605726	SIGMAR1	10280	HP:0009027	Foot dorsiflexor weakness
OMIM:605726	SIGMAR1	10280	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605726	SIGMAR1	10280	HP:0003676	Progressive
OMIM:605726	SIGMAR1	10280	HP:0003693	Distal amyotrophy
OMIM:605726	SIGMAR1	10280	HP:0007269	Spinal muscular atrophy
OMIM:611263	IFT80	57560	HP:0001156	Brachydactyly
OMIM:611263	IFT80	57560	HP:0001162	Postaxial hand polydactyly
OMIM:611263	IFT80	57560	HP:0010049	Short metacarpal
OMIM:611263	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:611263	IFT80	57560	HP:0003027	Mesomelia
OMIM:611263	IFT80	57560	HP:0001169	Broad palm
OMIM:611263	IFT80	57560	HP:0000774	Narrow chest
OMIM:611263	IFT80	57560	HP:0001773	Short foot
OMIM:611263	IFT80	57560	HP:0008905	Rhizomelia
OMIM:224050	VLDLR	7436	HP:0000750	Delayed speech and language development
OMIM:224050	VLDLR	7436	HP:0001302	Pachygyria
OMIM:224050	VLDLR	7436	HP:0004322	Short stature
OMIM:224050	VLDLR	7436	HP:0001272	Cerebellar atrophy
OMIM:224050	VLDLR	7436	HP:0009879	Cortical gyral simplification
OMIM:224050	VLDLR	7436	HP:0001310	Dysmetria
OMIM:224050	VLDLR	7436	HP:0002066	Gait ataxia
OMIM:224050	VLDLR	7436	HP:0000486	Strabismus
OMIM:224050	VLDLR	7436	HP:0002075	Dysdiadochokinesis
OMIM:224050	VLDLR	7436	HP:0002465	Poor speech
OMIM:224050	VLDLR	7436	HP:0002365	Hypoplasia of the brainstem
OMIM:224050	VLDLR	7436	HP:0001263	Global developmental delay
OMIM:224050	VLDLR	7436	HP:0000640	Gaze-evoked nystagmus
OMIM:224050	VLDLR	7436	HP:0002078	Truncal ataxia
OMIM:224050	VLDLR	7436	HP:0000007	Autosomal recessive inheritance
OMIM:224050	VLDLR	7436	HP:0001763	Pes planus
OMIM:224050	VLDLR	7436	HP:0001249	Intellectual disability
OMIM:224050	VLDLR	7436	HP:0001321	Cerebellar hypoplasia
OMIM:224050	VLDLR	7436	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:224050	VLDLR	7436	HP:0003680	Nonprogressive
OMIM:224050	VLDLR	7436	HP:0003577	Congenital onset
OMIM:224050	VLDLR	7436	HP:0001347	Hyperreflexia
OMIM:224050	VLDLR	7436	HP:0002136	Broad-based gait
OMIM:224050	VLDLR	7436	HP:0001290	Generalized hypotonia
OMIM:224050	VLDLR	7436	HP:0002080	Intention tremor
OMIM:224050	VLDLR	7436	HP:0000518	Cataract
OMIM:224050	VLDLR	7436	HP:0001260	Dysarthria
OMIM:188740	LMBR1	64327	HP:0009556	Absent tibia
OMIM:188740	LMBR1	64327	HP:0010442	Polydactyly
OMIM:188740	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:188740	LMBR1	64327	HP:0001627	Abnormal heart morphology
ORPHA:550	COX1	4512	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	COX1	4512	HP:0012378	Fatigue
ORPHA:550	COX1	4512	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	COX1	4512	HP:0003128	Lactic acidosis
ORPHA:550	COX1	4512	HP:0002093	Respiratory insufficiency
ORPHA:550	COX1	4512	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	COX1	4512	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	COX1	4512	HP:0002039	Anorexia
ORPHA:550	COX1	4512	HP:0002169	Clonus
ORPHA:550	COX1	4512	HP:0000508	Ptosis
ORPHA:550	COX1	4512	HP:0002637	Cerebral ischemia
ORPHA:550	COX1	4512	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	COX1	4512	HP:0002151	Increased serum lactate
ORPHA:550	COX1	4512	HP:0004372	Reduced consciousness/confusion
ORPHA:550	COX1	4512	HP:0000716	Depressivity
ORPHA:550	COX1	4512	HP:0002376	Developmental regression
ORPHA:550	COX1	4512	HP:0003737	Mitochondrial myopathy
ORPHA:550	COX1	4512	HP:0000739	Anxiety
ORPHA:550	COX1	4512	HP:0002076	Migraine
ORPHA:550	COX1	4512	HP:0000738	Hallucinations
ORPHA:550	COX1	4512	HP:0004326	Cachexia
ORPHA:550	COX1	4512	HP:0002354	Memory impairment
ORPHA:550	COX1	4512	HP:0002120	Cerebral cortical atrophy
ORPHA:550	COX1	4512	HP:0012377	Hemianopia
ORPHA:550	COX1	4512	HP:0002027	Abdominal pain
ORPHA:550	COX1	4512	HP:0003200	Ragged-red muscle fibers
ORPHA:550	COX1	4512	HP:0001733	Pancreatitis
ORPHA:550	COX1	4512	HP:0002514	Cerebral calcification
ORPHA:550	COX1	4512	HP:0003457	EMG abnormality
ORPHA:550	COX1	4512	HP:0004322	Short stature
ORPHA:550	COX1	4512	HP:0001251	Ataxia
ORPHA:550	COX1	4512	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	COX1	4512	HP:0000407	Sensorineural hearing impairment
ORPHA:550	COX1	4512	HP:0002017	Nausea and vomiting
ORPHA:550	COX1	4512	HP:0001324	Muscle weakness
ORPHA:550	COX1	4512	HP:0005978	Type II diabetes mellitus
ORPHA:550	COX1	4512	HP:0100613	Death in early adulthood
ORPHA:550	COX2	4513	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	COX2	4513	HP:0012378	Fatigue
ORPHA:550	COX2	4513	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	COX2	4513	HP:0003128	Lactic acidosis
ORPHA:550	COX2	4513	HP:0002093	Respiratory insufficiency
ORPHA:550	COX2	4513	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	COX2	4513	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	COX2	4513	HP:0002039	Anorexia
ORPHA:550	COX2	4513	HP:0002169	Clonus
ORPHA:550	COX2	4513	HP:0000508	Ptosis
ORPHA:550	COX2	4513	HP:0002637	Cerebral ischemia
ORPHA:550	COX2	4513	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	COX2	4513	HP:0002151	Increased serum lactate
ORPHA:550	COX2	4513	HP:0004372	Reduced consciousness/confusion
ORPHA:550	COX2	4513	HP:0000716	Depressivity
ORPHA:550	COX2	4513	HP:0002376	Developmental regression
ORPHA:550	COX2	4513	HP:0003737	Mitochondrial myopathy
ORPHA:550	COX2	4513	HP:0000739	Anxiety
ORPHA:550	COX2	4513	HP:0002076	Migraine
ORPHA:550	COX2	4513	HP:0000738	Hallucinations
ORPHA:550	COX2	4513	HP:0004326	Cachexia
ORPHA:550	COX2	4513	HP:0002354	Memory impairment
ORPHA:550	COX2	4513	HP:0002120	Cerebral cortical atrophy
ORPHA:550	COX2	4513	HP:0012377	Hemianopia
ORPHA:550	COX2	4513	HP:0002027	Abdominal pain
ORPHA:550	COX2	4513	HP:0003200	Ragged-red muscle fibers
ORPHA:550	COX2	4513	HP:0001733	Pancreatitis
ORPHA:550	COX2	4513	HP:0002514	Cerebral calcification
ORPHA:550	COX2	4513	HP:0003457	EMG abnormality
ORPHA:550	COX2	4513	HP:0004322	Short stature
ORPHA:550	COX2	4513	HP:0001251	Ataxia
ORPHA:550	COX2	4513	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	COX2	4513	HP:0000407	Sensorineural hearing impairment
ORPHA:550	COX2	4513	HP:0002017	Nausea and vomiting
ORPHA:550	COX2	4513	HP:0001324	Muscle weakness
ORPHA:550	COX2	4513	HP:0005978	Type II diabetes mellitus
ORPHA:550	COX2	4513	HP:0100613	Death in early adulthood
ORPHA:550	COX3	4514	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	COX3	4514	HP:0012378	Fatigue
ORPHA:550	COX3	4514	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	COX3	4514	HP:0003128	Lactic acidosis
ORPHA:550	COX3	4514	HP:0002093	Respiratory insufficiency
ORPHA:550	COX3	4514	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	COX3	4514	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	COX3	4514	HP:0002039	Anorexia
ORPHA:550	COX3	4514	HP:0002169	Clonus
ORPHA:550	COX3	4514	HP:0000508	Ptosis
ORPHA:550	COX3	4514	HP:0002637	Cerebral ischemia
ORPHA:550	COX3	4514	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	COX3	4514	HP:0002151	Increased serum lactate
ORPHA:550	COX3	4514	HP:0004372	Reduced consciousness/confusion
ORPHA:550	COX3	4514	HP:0000716	Depressivity
ORPHA:550	COX3	4514	HP:0002376	Developmental regression
ORPHA:550	COX3	4514	HP:0003737	Mitochondrial myopathy
ORPHA:550	COX3	4514	HP:0000739	Anxiety
ORPHA:550	COX3	4514	HP:0002076	Migraine
ORPHA:550	COX3	4514	HP:0000738	Hallucinations
ORPHA:550	COX3	4514	HP:0004326	Cachexia
ORPHA:550	COX3	4514	HP:0002354	Memory impairment
ORPHA:550	COX3	4514	HP:0002120	Cerebral cortical atrophy
ORPHA:550	COX3	4514	HP:0012377	Hemianopia
ORPHA:550	COX3	4514	HP:0002027	Abdominal pain
ORPHA:550	COX3	4514	HP:0003200	Ragged-red muscle fibers
ORPHA:550	COX3	4514	HP:0001733	Pancreatitis
ORPHA:550	COX3	4514	HP:0002514	Cerebral calcification
ORPHA:550	COX3	4514	HP:0003457	EMG abnormality
ORPHA:550	COX3	4514	HP:0004322	Short stature
ORPHA:550	COX3	4514	HP:0001251	Ataxia
ORPHA:550	COX3	4514	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	COX3	4514	HP:0000407	Sensorineural hearing impairment
ORPHA:550	COX3	4514	HP:0002017	Nausea and vomiting
ORPHA:550	COX3	4514	HP:0001324	Muscle weakness
ORPHA:550	COX3	4514	HP:0005978	Type II diabetes mellitus
ORPHA:550	COX3	4514	HP:0100613	Death in early adulthood
ORPHA:550	TRNW	4578	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNW	4578	HP:0012378	Fatigue
ORPHA:550	TRNW	4578	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNW	4578	HP:0003128	Lactic acidosis
ORPHA:550	TRNW	4578	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNW	4578	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNW	4578	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNW	4578	HP:0002039	Anorexia
ORPHA:550	TRNW	4578	HP:0002169	Clonus
ORPHA:550	TRNW	4578	HP:0000508	Ptosis
ORPHA:550	TRNW	4578	HP:0002637	Cerebral ischemia
ORPHA:550	TRNW	4578	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNW	4578	HP:0002151	Increased serum lactate
ORPHA:550	TRNW	4578	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNW	4578	HP:0000716	Depressivity
ORPHA:550	TRNW	4578	HP:0002376	Developmental regression
ORPHA:550	TRNW	4578	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNW	4578	HP:0000739	Anxiety
ORPHA:550	TRNW	4578	HP:0002076	Migraine
ORPHA:550	TRNW	4578	HP:0000738	Hallucinations
ORPHA:550	TRNW	4578	HP:0004326	Cachexia
ORPHA:550	TRNW	4578	HP:0002354	Memory impairment
ORPHA:550	TRNW	4578	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNW	4578	HP:0012377	Hemianopia
ORPHA:550	TRNW	4578	HP:0002027	Abdominal pain
ORPHA:550	TRNW	4578	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNW	4578	HP:0001733	Pancreatitis
ORPHA:550	TRNW	4578	HP:0002514	Cerebral calcification
ORPHA:550	TRNW	4578	HP:0003457	EMG abnormality
ORPHA:550	TRNW	4578	HP:0004322	Short stature
ORPHA:550	TRNW	4578	HP:0001251	Ataxia
ORPHA:550	TRNW	4578	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNW	4578	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNW	4578	HP:0002017	Nausea and vomiting
ORPHA:550	TRNW	4578	HP:0001324	Muscle weakness
ORPHA:550	TRNW	4578	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNW	4578	HP:0100613	Death in early adulthood
ORPHA:550	TRNF	4558	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNF	4558	HP:0012378	Fatigue
ORPHA:550	TRNF	4558	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNF	4558	HP:0003128	Lactic acidosis
ORPHA:550	TRNF	4558	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNF	4558	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNF	4558	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNF	4558	HP:0002039	Anorexia
ORPHA:550	TRNF	4558	HP:0002169	Clonus
ORPHA:550	TRNF	4558	HP:0000508	Ptosis
ORPHA:550	TRNF	4558	HP:0002637	Cerebral ischemia
ORPHA:550	TRNF	4558	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNF	4558	HP:0002151	Increased serum lactate
ORPHA:550	TRNF	4558	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNF	4558	HP:0000716	Depressivity
ORPHA:550	TRNF	4558	HP:0002376	Developmental regression
ORPHA:550	TRNF	4558	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNF	4558	HP:0000739	Anxiety
ORPHA:550	TRNF	4558	HP:0002076	Migraine
ORPHA:550	TRNF	4558	HP:0000738	Hallucinations
ORPHA:550	TRNF	4558	HP:0004326	Cachexia
ORPHA:550	TRNF	4558	HP:0002354	Memory impairment
ORPHA:550	TRNF	4558	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNF	4558	HP:0012377	Hemianopia
ORPHA:550	TRNF	4558	HP:0002027	Abdominal pain
ORPHA:550	TRNF	4558	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNF	4558	HP:0001733	Pancreatitis
ORPHA:550	TRNF	4558	HP:0002514	Cerebral calcification
ORPHA:550	TRNF	4558	HP:0003457	EMG abnormality
ORPHA:550	TRNF	4558	HP:0004322	Short stature
ORPHA:550	TRNF	4558	HP:0001251	Ataxia
ORPHA:550	TRNF	4558	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNF	4558	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNF	4558	HP:0002017	Nausea and vomiting
ORPHA:550	TRNF	4558	HP:0001324	Muscle weakness
ORPHA:550	TRNF	4558	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNF	4558	HP:0100613	Death in early adulthood
ORPHA:550	TRNH	4564	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNH	4564	HP:0012378	Fatigue
ORPHA:550	TRNH	4564	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNH	4564	HP:0003128	Lactic acidosis
ORPHA:550	TRNH	4564	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNH	4564	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNH	4564	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNH	4564	HP:0002039	Anorexia
ORPHA:550	TRNH	4564	HP:0002169	Clonus
ORPHA:550	TRNH	4564	HP:0000508	Ptosis
ORPHA:550	TRNH	4564	HP:0002637	Cerebral ischemia
ORPHA:550	TRNH	4564	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNH	4564	HP:0002151	Increased serum lactate
ORPHA:550	TRNH	4564	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNH	4564	HP:0000716	Depressivity
ORPHA:550	TRNH	4564	HP:0002376	Developmental regression
ORPHA:550	TRNH	4564	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNH	4564	HP:0000739	Anxiety
ORPHA:550	TRNH	4564	HP:0002076	Migraine
ORPHA:550	TRNH	4564	HP:0000738	Hallucinations
ORPHA:550	TRNH	4564	HP:0004326	Cachexia
ORPHA:550	TRNH	4564	HP:0002354	Memory impairment
ORPHA:550	TRNH	4564	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNH	4564	HP:0012377	Hemianopia
ORPHA:550	TRNH	4564	HP:0002027	Abdominal pain
ORPHA:550	TRNH	4564	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNH	4564	HP:0001733	Pancreatitis
ORPHA:550	TRNH	4564	HP:0002514	Cerebral calcification
ORPHA:550	TRNH	4564	HP:0003457	EMG abnormality
ORPHA:550	TRNH	4564	HP:0004322	Short stature
ORPHA:550	TRNH	4564	HP:0001251	Ataxia
ORPHA:550	TRNH	4564	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNH	4564	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNH	4564	HP:0002017	Nausea and vomiting
ORPHA:550	TRNH	4564	HP:0001324	Muscle weakness
ORPHA:550	TRNH	4564	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNH	4564	HP:0100613	Death in early adulthood
ORPHA:550	ND1	4535	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	ND1	4535	HP:0012378	Fatigue
ORPHA:550	ND1	4535	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	ND1	4535	HP:0003128	Lactic acidosis
ORPHA:550	ND1	4535	HP:0002093	Respiratory insufficiency
ORPHA:550	ND1	4535	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	ND1	4535	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	ND1	4535	HP:0002039	Anorexia
ORPHA:550	ND1	4535	HP:0002169	Clonus
ORPHA:550	ND1	4535	HP:0000508	Ptosis
ORPHA:550	ND1	4535	HP:0002637	Cerebral ischemia
ORPHA:550	ND1	4535	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	ND1	4535	HP:0002151	Increased serum lactate
ORPHA:550	ND1	4535	HP:0004372	Reduced consciousness/confusion
ORPHA:550	ND1	4535	HP:0000716	Depressivity
ORPHA:550	ND1	4535	HP:0002376	Developmental regression
ORPHA:550	ND1	4535	HP:0003737	Mitochondrial myopathy
ORPHA:550	ND1	4535	HP:0000739	Anxiety
ORPHA:550	ND1	4535	HP:0002076	Migraine
ORPHA:550	ND1	4535	HP:0000738	Hallucinations
ORPHA:550	ND1	4535	HP:0004326	Cachexia
ORPHA:550	ND1	4535	HP:0002354	Memory impairment
ORPHA:550	ND1	4535	HP:0002120	Cerebral cortical atrophy
ORPHA:550	ND1	4535	HP:0012377	Hemianopia
ORPHA:550	ND1	4535	HP:0002027	Abdominal pain
ORPHA:550	ND1	4535	HP:0003200	Ragged-red muscle fibers
ORPHA:550	ND1	4535	HP:0001733	Pancreatitis
ORPHA:550	ND1	4535	HP:0002514	Cerebral calcification
ORPHA:550	ND1	4535	HP:0003457	EMG abnormality
ORPHA:550	ND1	4535	HP:0004322	Short stature
ORPHA:550	ND1	4535	HP:0001251	Ataxia
ORPHA:550	ND1	4535	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	ND1	4535	HP:0000407	Sensorineural hearing impairment
ORPHA:550	ND1	4535	HP:0002017	Nausea and vomiting
ORPHA:550	ND1	4535	HP:0001324	Muscle weakness
ORPHA:550	ND1	4535	HP:0005978	Type II diabetes mellitus
ORPHA:550	ND1	4535	HP:0100613	Death in early adulthood
ORPHA:550	TRNL1	4567	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNL1	4567	HP:0012378	Fatigue
ORPHA:550	TRNL1	4567	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNL1	4567	HP:0003128	Lactic acidosis
ORPHA:550	TRNL1	4567	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNL1	4567	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNL1	4567	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNL1	4567	HP:0002039	Anorexia
ORPHA:550	TRNL1	4567	HP:0002169	Clonus
ORPHA:550	TRNL1	4567	HP:0000508	Ptosis
ORPHA:550	TRNL1	4567	HP:0002637	Cerebral ischemia
ORPHA:550	TRNL1	4567	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNL1	4567	HP:0002151	Increased serum lactate
ORPHA:550	TRNL1	4567	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNL1	4567	HP:0000716	Depressivity
ORPHA:550	TRNL1	4567	HP:0002376	Developmental regression
ORPHA:550	TRNL1	4567	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNL1	4567	HP:0000739	Anxiety
ORPHA:550	TRNL1	4567	HP:0002076	Migraine
ORPHA:550	TRNL1	4567	HP:0000738	Hallucinations
ORPHA:550	TRNL1	4567	HP:0004326	Cachexia
ORPHA:550	TRNL1	4567	HP:0002354	Memory impairment
ORPHA:550	TRNL1	4567	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNL1	4567	HP:0012377	Hemianopia
ORPHA:550	TRNL1	4567	HP:0002027	Abdominal pain
ORPHA:550	TRNL1	4567	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNL1	4567	HP:0001733	Pancreatitis
ORPHA:550	TRNL1	4567	HP:0002514	Cerebral calcification
ORPHA:550	TRNL1	4567	HP:0003457	EMG abnormality
ORPHA:550	TRNL1	4567	HP:0004322	Short stature
ORPHA:550	TRNL1	4567	HP:0001251	Ataxia
ORPHA:550	TRNL1	4567	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNL1	4567	HP:0002017	Nausea and vomiting
ORPHA:550	TRNL1	4567	HP:0001324	Muscle weakness
ORPHA:550	TRNL1	4567	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNL1	4567	HP:0100613	Death in early adulthood
ORPHA:550	ND4	4538	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	ND4	4538	HP:0012378	Fatigue
ORPHA:550	ND4	4538	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	ND4	4538	HP:0003128	Lactic acidosis
ORPHA:550	ND4	4538	HP:0002093	Respiratory insufficiency
ORPHA:550	ND4	4538	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	ND4	4538	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	ND4	4538	HP:0002039	Anorexia
ORPHA:550	ND4	4538	HP:0002169	Clonus
ORPHA:550	ND4	4538	HP:0000508	Ptosis
ORPHA:550	ND4	4538	HP:0002637	Cerebral ischemia
ORPHA:550	ND4	4538	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	ND4	4538	HP:0002151	Increased serum lactate
ORPHA:550	ND4	4538	HP:0004372	Reduced consciousness/confusion
ORPHA:550	ND4	4538	HP:0000716	Depressivity
ORPHA:550	ND4	4538	HP:0002376	Developmental regression
ORPHA:550	ND4	4538	HP:0003737	Mitochondrial myopathy
ORPHA:550	ND4	4538	HP:0000739	Anxiety
ORPHA:550	ND4	4538	HP:0002076	Migraine
ORPHA:550	ND4	4538	HP:0000738	Hallucinations
ORPHA:550	ND4	4538	HP:0004326	Cachexia
ORPHA:550	ND4	4538	HP:0002354	Memory impairment
ORPHA:550	ND4	4538	HP:0002120	Cerebral cortical atrophy
ORPHA:550	ND4	4538	HP:0012377	Hemianopia
ORPHA:550	ND4	4538	HP:0002027	Abdominal pain
ORPHA:550	ND4	4538	HP:0003200	Ragged-red muscle fibers
ORPHA:550	ND4	4538	HP:0001733	Pancreatitis
ORPHA:550	ND4	4538	HP:0002514	Cerebral calcification
ORPHA:550	ND4	4538	HP:0003457	EMG abnormality
ORPHA:550	ND4	4538	HP:0004322	Short stature
ORPHA:550	ND4	4538	HP:0001251	Ataxia
ORPHA:550	ND4	4538	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	ND4	4538	HP:0000407	Sensorineural hearing impairment
ORPHA:550	ND4	4538	HP:0002017	Nausea and vomiting
ORPHA:550	ND4	4538	HP:0001324	Muscle weakness
ORPHA:550	ND4	4538	HP:0005978	Type II diabetes mellitus
ORPHA:550	ND4	4538	HP:0100613	Death in early adulthood
ORPHA:550	ND5	4540	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	ND5	4540	HP:0012378	Fatigue
ORPHA:550	ND5	4540	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	ND5	4540	HP:0003128	Lactic acidosis
ORPHA:550	ND5	4540	HP:0002093	Respiratory insufficiency
ORPHA:550	ND5	4540	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	ND5	4540	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	ND5	4540	HP:0002039	Anorexia
ORPHA:550	ND5	4540	HP:0002169	Clonus
ORPHA:550	ND5	4540	HP:0000508	Ptosis
ORPHA:550	ND5	4540	HP:0002637	Cerebral ischemia
ORPHA:550	ND5	4540	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	ND5	4540	HP:0002151	Increased serum lactate
ORPHA:550	ND5	4540	HP:0004372	Reduced consciousness/confusion
ORPHA:550	ND5	4540	HP:0000716	Depressivity
ORPHA:550	ND5	4540	HP:0002376	Developmental regression
ORPHA:550	ND5	4540	HP:0003737	Mitochondrial myopathy
ORPHA:550	ND5	4540	HP:0000739	Anxiety
ORPHA:550	ND5	4540	HP:0002076	Migraine
ORPHA:550	ND5	4540	HP:0000738	Hallucinations
ORPHA:550	ND5	4540	HP:0004326	Cachexia
ORPHA:550	ND5	4540	HP:0002354	Memory impairment
ORPHA:550	ND5	4540	HP:0002120	Cerebral cortical atrophy
ORPHA:550	ND5	4540	HP:0012377	Hemianopia
ORPHA:550	ND5	4540	HP:0002027	Abdominal pain
ORPHA:550	ND5	4540	HP:0003200	Ragged-red muscle fibers
ORPHA:550	ND5	4540	HP:0001733	Pancreatitis
ORPHA:550	ND5	4540	HP:0002514	Cerebral calcification
ORPHA:550	ND5	4540	HP:0003457	EMG abnormality
ORPHA:550	ND5	4540	HP:0004322	Short stature
ORPHA:550	ND5	4540	HP:0001251	Ataxia
ORPHA:550	ND5	4540	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	ND5	4540	HP:0000407	Sensorineural hearing impairment
ORPHA:550	ND5	4540	HP:0002017	Nausea and vomiting
ORPHA:550	ND5	4540	HP:0001324	Muscle weakness
ORPHA:550	ND5	4540	HP:0005978	Type II diabetes mellitus
ORPHA:550	ND5	4540	HP:0100613	Death in early adulthood
ORPHA:550	TRNQ	4572	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNQ	4572	HP:0012378	Fatigue
ORPHA:550	TRNQ	4572	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNQ	4572	HP:0003128	Lactic acidosis
ORPHA:550	TRNQ	4572	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNQ	4572	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNQ	4572	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNQ	4572	HP:0002039	Anorexia
ORPHA:550	TRNQ	4572	HP:0002169	Clonus
ORPHA:550	TRNQ	4572	HP:0000508	Ptosis
ORPHA:550	TRNQ	4572	HP:0002637	Cerebral ischemia
ORPHA:550	TRNQ	4572	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNQ	4572	HP:0002151	Increased serum lactate
ORPHA:550	TRNQ	4572	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNQ	4572	HP:0000716	Depressivity
ORPHA:550	TRNQ	4572	HP:0002376	Developmental regression
ORPHA:550	TRNQ	4572	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNQ	4572	HP:0000739	Anxiety
ORPHA:550	TRNQ	4572	HP:0002076	Migraine
ORPHA:550	TRNQ	4572	HP:0000738	Hallucinations
ORPHA:550	TRNQ	4572	HP:0004326	Cachexia
ORPHA:550	TRNQ	4572	HP:0002354	Memory impairment
ORPHA:550	TRNQ	4572	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNQ	4572	HP:0012377	Hemianopia
ORPHA:550	TRNQ	4572	HP:0002027	Abdominal pain
ORPHA:550	TRNQ	4572	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNQ	4572	HP:0001733	Pancreatitis
ORPHA:550	TRNQ	4572	HP:0002514	Cerebral calcification
ORPHA:550	TRNQ	4572	HP:0003457	EMG abnormality
ORPHA:550	TRNQ	4572	HP:0004322	Short stature
ORPHA:550	TRNQ	4572	HP:0001251	Ataxia
ORPHA:550	TRNQ	4572	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNQ	4572	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNQ	4572	HP:0002017	Nausea and vomiting
ORPHA:550	TRNQ	4572	HP:0001324	Muscle weakness
ORPHA:550	TRNQ	4572	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNQ	4572	HP:0100613	Death in early adulthood
ORPHA:550	ND6	4541	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	ND6	4541	HP:0012378	Fatigue
ORPHA:550	ND6	4541	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	ND6	4541	HP:0003128	Lactic acidosis
ORPHA:550	ND6	4541	HP:0002093	Respiratory insufficiency
ORPHA:550	ND6	4541	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	ND6	4541	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	ND6	4541	HP:0002039	Anorexia
ORPHA:550	ND6	4541	HP:0002169	Clonus
ORPHA:550	ND6	4541	HP:0000508	Ptosis
ORPHA:550	ND6	4541	HP:0002637	Cerebral ischemia
ORPHA:550	ND6	4541	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	ND6	4541	HP:0002151	Increased serum lactate
ORPHA:550	ND6	4541	HP:0004372	Reduced consciousness/confusion
ORPHA:550	ND6	4541	HP:0000716	Depressivity
ORPHA:550	ND6	4541	HP:0002376	Developmental regression
ORPHA:550	ND6	4541	HP:0003737	Mitochondrial myopathy
ORPHA:550	ND6	4541	HP:0000739	Anxiety
ORPHA:550	ND6	4541	HP:0002076	Migraine
ORPHA:550	ND6	4541	HP:0000738	Hallucinations
ORPHA:550	ND6	4541	HP:0004326	Cachexia
ORPHA:550	ND6	4541	HP:0002354	Memory impairment
ORPHA:550	ND6	4541	HP:0002120	Cerebral cortical atrophy
ORPHA:550	ND6	4541	HP:0012377	Hemianopia
ORPHA:550	ND6	4541	HP:0002027	Abdominal pain
ORPHA:550	ND6	4541	HP:0003200	Ragged-red muscle fibers
ORPHA:550	ND6	4541	HP:0001733	Pancreatitis
ORPHA:550	ND6	4541	HP:0002514	Cerebral calcification
ORPHA:550	ND6	4541	HP:0003457	EMG abnormality
ORPHA:550	ND6	4541	HP:0004322	Short stature
ORPHA:550	ND6	4541	HP:0001251	Ataxia
ORPHA:550	ND6	4541	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	ND6	4541	HP:0000407	Sensorineural hearing impairment
ORPHA:550	ND6	4541	HP:0002017	Nausea and vomiting
ORPHA:550	ND6	4541	HP:0001324	Muscle weakness
ORPHA:550	ND6	4541	HP:0005978	Type II diabetes mellitus
ORPHA:550	ND6	4541	HP:0100613	Death in early adulthood
ORPHA:550	TRNS1	4574	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNS1	4574	HP:0012378	Fatigue
ORPHA:550	TRNS1	4574	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNS1	4574	HP:0003128	Lactic acidosis
ORPHA:550	TRNS1	4574	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNS1	4574	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNS1	4574	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNS1	4574	HP:0002039	Anorexia
ORPHA:550	TRNS1	4574	HP:0002169	Clonus
ORPHA:550	TRNS1	4574	HP:0000508	Ptosis
ORPHA:550	TRNS1	4574	HP:0002637	Cerebral ischemia
ORPHA:550	TRNS1	4574	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNS1	4574	HP:0002151	Increased serum lactate
ORPHA:550	TRNS1	4574	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNS1	4574	HP:0000716	Depressivity
ORPHA:550	TRNS1	4574	HP:0002376	Developmental regression
ORPHA:550	TRNS1	4574	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNS1	4574	HP:0000739	Anxiety
ORPHA:550	TRNS1	4574	HP:0002076	Migraine
ORPHA:550	TRNS1	4574	HP:0000738	Hallucinations
ORPHA:550	TRNS1	4574	HP:0004326	Cachexia
ORPHA:550	TRNS1	4574	HP:0002354	Memory impairment
ORPHA:550	TRNS1	4574	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNS1	4574	HP:0012377	Hemianopia
ORPHA:550	TRNS1	4574	HP:0002027	Abdominal pain
ORPHA:550	TRNS1	4574	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNS1	4574	HP:0001733	Pancreatitis
ORPHA:550	TRNS1	4574	HP:0002514	Cerebral calcification
ORPHA:550	TRNS1	4574	HP:0003457	EMG abnormality
ORPHA:550	TRNS1	4574	HP:0004322	Short stature
ORPHA:550	TRNS1	4574	HP:0001251	Ataxia
ORPHA:550	TRNS1	4574	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNS1	4574	HP:0002017	Nausea and vomiting
ORPHA:550	TRNS1	4574	HP:0001324	Muscle weakness
ORPHA:550	TRNS1	4574	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNS1	4574	HP:0100613	Death in early adulthood
ORPHA:550	TRNS2	4575	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:550	TRNS2	4575	HP:0012378	Fatigue
ORPHA:550	TRNS2	4575	HP:0002069	Generalized tonic-clonic seizures
ORPHA:550	TRNS2	4575	HP:0003128	Lactic acidosis
ORPHA:550	TRNS2	4575	HP:0002093	Respiratory insufficiency
ORPHA:550	TRNS2	4575	HP:0003287	Abnormality of mitochondrial metabolism
ORPHA:550	TRNS2	4575	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:550	TRNS2	4575	HP:0002039	Anorexia
ORPHA:550	TRNS2	4575	HP:0002169	Clonus
ORPHA:550	TRNS2	4575	HP:0000508	Ptosis
ORPHA:550	TRNS2	4575	HP:0002637	Cerebral ischemia
ORPHA:550	TRNS2	4575	HP:0000762	Decreased nerve conduction velocity
ORPHA:550	TRNS2	4575	HP:0002151	Increased serum lactate
ORPHA:550	TRNS2	4575	HP:0004372	Reduced consciousness/confusion
ORPHA:550	TRNS2	4575	HP:0000716	Depressivity
ORPHA:550	TRNS2	4575	HP:0002376	Developmental regression
ORPHA:550	TRNS2	4575	HP:0003737	Mitochondrial myopathy
ORPHA:550	TRNS2	4575	HP:0000739	Anxiety
ORPHA:550	TRNS2	4575	HP:0002076	Migraine
ORPHA:550	TRNS2	4575	HP:0000738	Hallucinations
ORPHA:550	TRNS2	4575	HP:0004326	Cachexia
ORPHA:550	TRNS2	4575	HP:0002354	Memory impairment
ORPHA:550	TRNS2	4575	HP:0002120	Cerebral cortical atrophy
ORPHA:550	TRNS2	4575	HP:0012377	Hemianopia
ORPHA:550	TRNS2	4575	HP:0002027	Abdominal pain
ORPHA:550	TRNS2	4575	HP:0003200	Ragged-red muscle fibers
ORPHA:550	TRNS2	4575	HP:0001733	Pancreatitis
ORPHA:550	TRNS2	4575	HP:0002514	Cerebral calcification
ORPHA:550	TRNS2	4575	HP:0003457	EMG abnormality
ORPHA:550	TRNS2	4575	HP:0004322	Short stature
ORPHA:550	TRNS2	4575	HP:0001251	Ataxia
ORPHA:550	TRNS2	4575	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:550	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
ORPHA:550	TRNS2	4575	HP:0002017	Nausea and vomiting
ORPHA:550	TRNS2	4575	HP:0001324	Muscle weakness
ORPHA:550	TRNS2	4575	HP:0005978	Type II diabetes mellitus
ORPHA:550	TRNS2	4575	HP:0100613	Death in early adulthood
ORPHA:811	DNAJC21	134218	HP:0001290	Generalized hypotonia
ORPHA:811	DNAJC21	134218	HP:0004322	Short stature
ORPHA:811	DNAJC21	134218	HP:0002719	Recurrent infections
ORPHA:811	DNAJC21	134218	HP:0001875	Neutropenia
ORPHA:811	DNAJC21	134218	HP:0008064	Ichthyosis
ORPHA:811	DNAJC21	134218	HP:0001508	Failure to thrive
ORPHA:811	DNAJC21	134218	HP:0001903	Anemia
ORPHA:811	DNAJC21	134218	HP:0002024	Malabsorption
ORPHA:811	DNAJC21	134218	HP:0000964	Eczema
ORPHA:811	DNAJC21	134218	HP:0001873	Thrombocytopenia
ORPHA:811	DNAJC21	134218	HP:0002750	Delayed skeletal maturation
ORPHA:811	DNAJC21	134218	HP:0000944	Abnormality of the metaphysis
ORPHA:811	DNAJC21	134218	HP:0001263	Global developmental delay
ORPHA:811	DNAJC21	134218	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:811	DNAJC21	134218	HP:0001249	Intellectual disability
ORPHA:811	DNAJC21	134218	HP:0000938	Osteopenia
ORPHA:811	SBDS	51119	HP:0001290	Generalized hypotonia
ORPHA:811	SBDS	51119	HP:0004322	Short stature
ORPHA:811	SBDS	51119	HP:0002719	Recurrent infections
ORPHA:811	SBDS	51119	HP:0001875	Neutropenia
ORPHA:811	SBDS	51119	HP:0008064	Ichthyosis
ORPHA:811	SBDS	51119	HP:0001508	Failure to thrive
ORPHA:811	SBDS	51119	HP:0001903	Anemia
ORPHA:811	SBDS	51119	HP:0002024	Malabsorption
ORPHA:811	SBDS	51119	HP:0000964	Eczema
ORPHA:811	SBDS	51119	HP:0001873	Thrombocytopenia
ORPHA:811	SBDS	51119	HP:0002750	Delayed skeletal maturation
ORPHA:811	SBDS	51119	HP:0000944	Abnormality of the metaphysis
ORPHA:811	SBDS	51119	HP:0001263	Global developmental delay
ORPHA:811	SBDS	51119	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:811	SBDS	51119	HP:0001249	Intellectual disability
ORPHA:811	SBDS	51119	HP:0000938	Osteopenia
ORPHA:3339	KRAS	3845	HP:0003196	Short nose
ORPHA:3339	KRAS	3845	HP:0004279	Short palm
ORPHA:3339	KRAS	3845	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3339	KRAS	3845	HP:0012745	Short palpebral fissure
ORPHA:3339	KRAS	3845	HP:0000581	Blepharophimosis
ORPHA:3339	KRAS	3845	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:3339	KRAS	3845	HP:0000256	Macrocephaly
ORPHA:3339	KRAS	3845	HP:0007440	Generalized hyperpigmentation
ORPHA:3339	KRAS	3845	HP:0000486	Strabismus
ORPHA:3339	KRAS	3845	HP:0001140	Epibulbar dermoid
ORPHA:3339	KRAS	3845	HP:0000506	Telecanthus
ORPHA:3339	KRAS	3845	HP:0001561	Polyhydramnios
ORPHA:3339	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHA:3339	KRAS	3845	HP:0001510	Growth delay
ORPHA:3339	KRAS	3845	HP:0002251	Aganglionic megacolon
ORPHA:3339	KRAS	3845	HP:0011968	Feeding difficulties
ORPHA:3339	KRAS	3845	HP:0000520	Proptosis
ORPHA:3339	KRAS	3845	HP:0001331	Absent septum pellucidum
ORPHA:3339	KRAS	3845	HP:0000286	Epicanthus
ORPHA:3339	KRAS	3845	HP:0000463	Anteverted nares
ORPHA:3339	KRAS	3845	HP:0000069	Abnormality of the ureter
ORPHA:3339	KRAS	3845	HP:0001508	Failure to thrive
ORPHA:3339	KRAS	3845	HP:0000365	Hearing impairment
ORPHA:3339	KRAS	3845	HP:0008749	Laryngeal hypoplasia
ORPHA:3339	KRAS	3845	HP:0001156	Brachydactyly
ORPHA:3339	KRAS	3845	HP:0001274	Agenesis of corpus callosum
OMIM:125400	SMOC2	64094	HP:0011060	Dentinogenesis imperfecta limited to primary teeth
OMIM:125400	SMOC2	64094	HP:0000007	Autosomal recessive inheritance
OMIM:125400	SMOC2	64094	HP:0000006	Autosomal dominant inheritance
OMIM:125400	SMOC2	64094	HP:0000700	Periapical bone loss
OMIM:125400	SMOC2	64094	HP:0006350	Obliteration of the pulp chamber
OMIM:615878	TJP2	9414	HP:0001402	Hepatocellular carcinoma
OMIM:615878	TJP2	9414	HP:0003676	Progressive
OMIM:615878	TJP2	9414	HP:0001406	Intrahepatic cholestasis
OMIM:615878	TJP2	9414	HP:0000007	Autosomal recessive inheritance
OMIM:615878	TJP2	9414	HP:0001399	Hepatic failure
OMIM:615878	TJP2	9414	HP:0001409	Portal hypertension
OMIM:614867	PEX2	5828	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX2	5828	HP:0010571	Elevated levels of phytanic acid
OMIM:614867	PEX2	5828	HP:0003677	Slow progression
OMIM:614867	PEX2	5828	HP:0001260	Dysarthria
OMIM:614867	PEX2	5828	HP:0002317	Unsteady gait
OMIM:614867	PEX2	5828	HP:0003828	Variable expressivity
OMIM:614867	PEX2	5828	HP:0001310	Dysmetria
OMIM:614867	PEX2	5828	HP:0000505	Visual impairment
OMIM:614867	PEX2	5828	HP:0001265	Hyporeflexia
OMIM:614867	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614867	PEX2	5828	HP:0001337	Tremor
OMIM:614867	PEX2	5828	HP:0008167	Very long chain fatty acid accumulation
OMIM:614867	PEX2	5828	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX2	5828	HP:0001290	Generalized hypotonia
OMIM:614867	PEX2	5828	HP:0000639	Nystagmus
OMIM:614867	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614867	PEX2	5828	HP:0009046	Difficulty running
OMIM:614867	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX2	5828	HP:0000514	Slow saccadic eye movements
OMIM:614867	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX2	5828	HP:0000657	Oculomotor apraxia
OMIM:614083	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCL	55120	HP:0001263	Global developmental delay
OMIM:614083	FANCL	55120	HP:0040012	Chromosome breakage
OMIM:614083	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCL	55120	HP:0003812	Phenotypic variability
OMIM:614083	FANCL	55120	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCL	55120	HP:0001903	Anemia
OMIM:604928	CISD2	493856	HP:0008320	Impaired collagen-induced platelet aggregation
OMIM:604928	CISD2	493856	HP:0000407	Sensorineural hearing impairment
OMIM:604928	CISD2	493856	HP:0000819	Diabetes mellitus
OMIM:604928	CISD2	493856	HP:0001892	Abnormal bleeding
OMIM:604928	CISD2	493856	HP:0001138	Optic neuropathy
OMIM:604928	CISD2	493856	HP:0000007	Autosomal recessive inheritance
OMIM:604928	CISD2	493856	HP:0000716	Depressivity
OMIM:604928	CISD2	493856	HP:0000648	Optic atrophy
OMIM:150600	COL2A1	1280	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:150600	COL2A1	1280	HP:0002750	Delayed skeletal maturation
OMIM:150600	COL2A1	1280	HP:0004322	Short stature
OMIM:133540	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:133540	ERCC6	2074	HP:0003224	Increased cellular sensitivity to UV light
OMIM:133540	ERCC6	2074	HP:0008070	Sparse hair
OMIM:133540	ERCC6	2074	HP:0003469	Peripheral dysmyelination
OMIM:133540	ERCC6	2074	HP:0003510	Severe short stature
OMIM:133540	ERCC6	2074	HP:0000252	Microcephaly
OMIM:133540	ERCC6	2074	HP:0001337	Tremor
OMIM:133540	ERCC6	2074	HP:0000580	Pigmentary retinopathy
OMIM:133540	ERCC6	2074	HP:0000680	Delayed eruption of primary teeth
OMIM:133540	ERCC6	2074	HP:0000939	Osteoporosis
OMIM:133540	ERCC6	2074	HP:0000486	Strabismus
OMIM:133540	ERCC6	2074	HP:0000822	Hypertension
OMIM:133540	ERCC6	2074	HP:0001744	Splenomegaly
OMIM:133540	ERCC6	2074	HP:0007759	Opacification of the corneal stroma
OMIM:133540	ERCC6	2074	HP:0000762	Decreased nerve conduction velocity
OMIM:133540	ERCC6	2074	HP:0007352	Cerebellar calcifications
OMIM:133540	ERCC6	2074	HP:0000639	Nystagmus
OMIM:133540	ERCC6	2074	HP:0000958	Dry skin
OMIM:133540	ERCC6	2074	HP:0001251	Ataxia
OMIM:133540	ERCC6	2074	HP:0008897	Postnatal growth retardation
OMIM:133540	ERCC6	2074	HP:0006958	Abnormal auditory evoked potentials
OMIM:133540	ERCC6	2074	HP:0002684	Thickened calvaria
OMIM:133540	ERCC6	2074	HP:0007676	Hypoplasia of the iris
OMIM:133540	ERCC6	2074	HP:0000689	Dental malocclusion
OMIM:133540	ERCC6	2074	HP:0002135	Basal ganglia calcification
OMIM:133540	ERCC6	2074	HP:0001518	Small for gestational age
OMIM:133540	ERCC6	2074	HP:0000540	Hypermetropia
OMIM:133540	ERCC6	2074	HP:0001271	Polyneuropathy
OMIM:133540	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:133540	ERCC6	2074	HP:0002545	Patchy demyelination of subcortical white matter
OMIM:133540	ERCC6	2074	HP:0000054	Micropenis
OMIM:133540	ERCC6	2074	HP:0010234	Ivory epiphyses of the phalanges of the hand
OMIM:133540	ERCC6	2074	HP:0002240	Hepatomegaly
OMIM:133540	ERCC6	2074	HP:0000303	Mandibular prognathia
OMIM:133540	ERCC6	2074	HP:0002059	Cerebral atrophy
OMIM:133540	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:133540	ERCC6	2074	HP:0003278	Square pelvis bone
OMIM:133540	ERCC6	2074	HP:0000633	Decreased lacrimation
OMIM:133540	ERCC6	2074	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:133540	ERCC6	2074	HP:0000482	Microcornea
OMIM:133540	ERCC6	2074	HP:0001525	Severe failure to thrive
OMIM:133540	ERCC6	2074	HP:0000518	Cataract
OMIM:133540	ERCC6	2074	HP:0003130	Abnormal peripheral myelination
OMIM:133540	ERCC6	2074	HP:0011359	Dry hair
OMIM:133540	ERCC6	2074	HP:0001324	Muscle weakness
OMIM:133540	ERCC6	2074	HP:0011675	Arrhythmia
OMIM:133540	ERCC6	2074	HP:0004334	Dermal atrophy
OMIM:133540	ERCC6	2074	HP:0001000	Abnormality of skin pigmentation
OMIM:133540	ERCC6	2074	HP:0000649	Abnormality of visual evoked potentials
OMIM:133540	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:133540	ERCC6	2074	HP:0007346	Subcortical white matter calcifications
OMIM:133540	ERCC6	2074	HP:0002808	Kyphosis
OMIM:133540	ERCC6	2074	HP:0001250	Seizures
OMIM:133540	ERCC6	2074	HP:0002866	Hypoplastic iliac wing
OMIM:133540	ERCC6	2074	HP:0005328	Progeroid facial appearance
OMIM:133540	ERCC6	2074	HP:0008839	Hypoplastic pelvis
OMIM:133540	ERCC6	2074	HP:0000377	Abnormality of the pinna
OMIM:133540	ERCC6	2074	HP:0000648	Optic atrophy
OMIM:133540	ERCC6	2074	HP:0000670	Carious teeth
OMIM:133540	ERCC6	2074	HP:0000417	Slender nose
OMIM:133540	ERCC6	2074	HP:0000028	Cryptorchidism
OMIM:133540	ERCC6	2074	HP:0002343	Normal pressure hydrocephalus
OMIM:133540	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:133540	ERCC6	2074	HP:0000093	Proteinuria
OMIM:133540	ERCC6	2074	HP:0000685	Hypoplasia of teeth
OMIM:133540	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:133540	ERCC6	2074	HP:0000083	Renal insufficiency
OMIM:133540	ERCC6	2074	HP:0000970	Anhidrosis
OMIM:133540	ERCC6	2074	HP:0000987	Atypical scarring of skin
OMIM:133540	ERCC6	2074	HP:0001595	Abnormality of the hair
OMIM:133540	ERCC6	2074	HP:0000292	Loss of facial adipose tissue
OMIM:133540	ERCC6	2074	HP:0001376	Limitation of joint mobility
OMIM:214500	LYST	1130	HP:0000952	Jaundice
OMIM:214500	LYST	1130	HP:0006824	Cranial nerve paralysis
OMIM:214500	LYST	1130	HP:0001265	Hyporeflexia
OMIM:214500	LYST	1130	HP:0001288	Gait disturbance
OMIM:214500	LYST	1130	HP:0005429	Recurrent systemic pyogenic infections
OMIM:214500	LYST	1130	HP:0000230	Gingivitis
OMIM:214500	LYST	1130	HP:0005592	Giant melanosomes in melanocytes
OMIM:214500	LYST	1130	HP:0005599	Hypopigmentation of hair
OMIM:214500	LYST	1130	HP:0001882	Leukopenia
OMIM:214500	LYST	1130	HP:0000762	Decreased nerve conduction velocity
OMIM:214500	LYST	1130	HP:0007133	Progressive peripheral neuropathy
OMIM:214500	LYST	1130	HP:0001249	Intellectual disability
OMIM:214500	LYST	1130	HP:0001903	Anemia
OMIM:214500	LYST	1130	HP:0002716	Lymphadenopathy
OMIM:214500	LYST	1130	HP:0002180	Neurodegeneration
OMIM:214500	LYST	1130	HP:0002240	Hepatomegaly
OMIM:214500	LYST	1130	HP:0009027	Foot dorsiflexor weakness
OMIM:214500	LYST	1130	HP:0005406	Recurrent bacterial skin infections
OMIM:214500	LYST	1130	HP:0000505	Visual impairment
OMIM:214500	LYST	1130	HP:0000639	Nystagmus
OMIM:214500	LYST	1130	HP:0001250	Seizures
OMIM:214500	LYST	1130	HP:0001104	Macular hypoplasia
OMIM:214500	LYST	1130	HP:0000613	Photophobia
OMIM:214500	LYST	1130	HP:0001744	Splenomegaly
OMIM:214500	LYST	1130	HP:0001010	Hypopigmentation of the skin
OMIM:214500	LYST	1130	HP:0001337	Tremor
OMIM:214500	LYST	1130	HP:0007663	Reduced visual acuity
OMIM:214500	LYST	1130	HP:0000486	Strabismus
OMIM:214500	LYST	1130	HP:0001873	Thrombocytopenia
OMIM:214500	LYST	1130	HP:0007730	Iris hypopigmentation
OMIM:214500	LYST	1130	HP:0000007	Autosomal recessive inheritance
OMIM:605822	XYLT2	64132	HP:0001763	Pes planus
OMIM:605822	XYLT2	64132	HP:0000007	Autosomal recessive inheritance
OMIM:605822	XYLT2	64132	HP:0000639	Nystagmus
OMIM:605822	XYLT2	64132	HP:0010511	Long toe
OMIM:605822	XYLT2	64132	HP:0000407	Sensorineural hearing impairment
OMIM:605822	XYLT2	64132	HP:0000358	Posteriorly rotated ears
OMIM:605822	XYLT2	64132	HP:0000646	Amblyopia
OMIM:605822	XYLT2	64132	HP:0000541	Retinal detachment
OMIM:605822	XYLT2	64132	HP:0000369	Low-set ears
OMIM:605822	XYLT2	64132	HP:0001634	Mitral valve prolapse
OMIM:605822	XYLT2	64132	HP:0001324	Muscle weakness
OMIM:605822	XYLT2	64132	HP:0000465	Webbed neck
OMIM:605822	XYLT2	64132	HP:0000938	Osteopenia
OMIM:605822	XYLT2	64132	HP:0100807	Long fingers
OMIM:605822	XYLT2	64132	HP:0000914	Shield chest
OMIM:605822	XYLT2	64132	HP:0002162	Low posterior hairline
OMIM:605822	XYLT2	64132	HP:0002953	Vertebral compression fractures
OMIM:605822	XYLT2	64132	HP:0001631	Atrial septal defect
ORPHA:1545	CLCF1	23529	HP:0000293	Full cheeks
ORPHA:1545	CLCF1	23529	HP:0002808	Kyphosis
ORPHA:1545	CLCF1	23529	HP:0000966	Hypohidrosis
ORPHA:1545	CLCF1	23529	HP:0000463	Anteverted nares
ORPHA:1545	CLCF1	23529	HP:0100543	Cognitive impairment
ORPHA:1545	CLCF1	23529	HP:0100729	Large face
ORPHA:1545	CLCF1	23529	HP:0000975	Hyperhidrosis
ORPHA:1545	CLCF1	23529	HP:0001276	Hypertonia
ORPHA:1545	CLCF1	23529	HP:0002650	Scoliosis
ORPHA:1545	CLCF1	23529	HP:0001645	Sudden cardiac death
ORPHA:1545	CLCF1	23529	HP:0001376	Limitation of joint mobility
ORPHA:1545	CLCF1	23529	HP:0002093	Respiratory insufficiency
ORPHA:1545	CLCF1	23529	HP:0100490	Camptodactyly of finger
ORPHA:1545	CLCF1	23529	HP:0000343	Long philtrum
ORPHA:1545	CLCF1	23529	HP:0000445	Wide nose
ORPHA:1545	CLCF1	23529	HP:0001522	Death in infancy
ORPHA:1545	CLCF1	23529	HP:0011968	Feeding difficulties
ORPHA:1545	CLCF1	23529	HP:0000218	High palate
ORPHA:1545	CLCF1	23529	HP:0002047	Malignant hyperthermia
ORPHA:1545	CRLF1	9244	HP:0000293	Full cheeks
ORPHA:1545	CRLF1	9244	HP:0002808	Kyphosis
ORPHA:1545	CRLF1	9244	HP:0000966	Hypohidrosis
ORPHA:1545	CRLF1	9244	HP:0000463	Anteverted nares
ORPHA:1545	CRLF1	9244	HP:0100543	Cognitive impairment
ORPHA:1545	CRLF1	9244	HP:0100729	Large face
ORPHA:1545	CRLF1	9244	HP:0000975	Hyperhidrosis
ORPHA:1545	CRLF1	9244	HP:0001276	Hypertonia
ORPHA:1545	CRLF1	9244	HP:0002650	Scoliosis
ORPHA:1545	CRLF1	9244	HP:0001645	Sudden cardiac death
ORPHA:1545	CRLF1	9244	HP:0001376	Limitation of joint mobility
ORPHA:1545	CRLF1	9244	HP:0002093	Respiratory insufficiency
ORPHA:1545	CRLF1	9244	HP:0100490	Camptodactyly of finger
ORPHA:1545	CRLF1	9244	HP:0000343	Long philtrum
ORPHA:1545	CRLF1	9244	HP:0000445	Wide nose
ORPHA:1545	CRLF1	9244	HP:0001522	Death in infancy
ORPHA:1545	CRLF1	9244	HP:0011968	Feeding difficulties
ORPHA:1545	CRLF1	9244	HP:0000218	High palate
ORPHA:1545	CRLF1	9244	HP:0002047	Malignant hyperthermia
OMIM:212112	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:212112	LMNA	4000	HP:0200021	Down-sloping shoulders
OMIM:212112	LMNA	4000	HP:0000278	Retrognathia
OMIM:212112	LMNA	4000	HP:0000815	Hypergonadotropic hypogonadism
OMIM:212112	LMNA	4000	HP:0009125	Lipodystrophy
OMIM:212112	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:212112	LMNA	4000	HP:0001653	Mitral regurgitation
OMIM:212112	LMNA	4000	HP:0000894	Short clavicles
OMIM:212112	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:311200	OFD1	8481	HP:0000286	Epicanthus
OMIM:311200	OFD1	8481	HP:0002281	Gray matter heterotopias
OMIM:311200	OFD1	8481	HP:0003577	Congenital onset
OMIM:311200	OFD1	8481	HP:0001274	Agenesis of corpus callosum
OMIM:311200	OFD1	8481	HP:0008070	Sparse hair
OMIM:311200	OFD1	8481	HP:0000365	Hearing impairment
OMIM:311200	OFD1	8481	HP:0001407	Hepatic cysts
OMIM:311200	OFD1	8481	HP:0010442	Polydactyly
OMIM:311200	OFD1	8481	HP:0030084	Clinodactyly
OMIM:311200	OFD1	8481	HP:0000180	Lobulated tongue
OMIM:311200	OFD1	8481	HP:0000822	Hypertension
OMIM:311200	OFD1	8481	HP:0000218	High palate
OMIM:311200	OFD1	8481	HP:0100702	Arachnoid cyst
OMIM:311200	OFD1	8481	HP:0000506	Telecanthus
OMIM:311200	OFD1	8481	HP:0002132	Porencephalic cyst
OMIM:311200	OFD1	8481	HP:0000113	Polycystic kidney dysplasia
OMIM:311200	OFD1	8481	HP:0010297	Bifid tongue
OMIM:311200	OFD1	8481	HP:0001423	X-linked dominant inheritance
OMIM:311200	OFD1	8481	HP:0000494	Downslanted palpebral fissures
OMIM:311200	OFD1	8481	HP:0000093	Proteinuria
OMIM:311200	OFD1	8481	HP:0000430	Underdeveloped nasal alae
OMIM:311200	OFD1	8481	HP:0001156	Brachydactyly
OMIM:311200	OFD1	8481	HP:0001056	Milia
OMIM:311200	OFD1	8481	HP:0002444	Hypothalamic hamartoma
OMIM:311200	OFD1	8481	HP:0000252	Microcephaly
OMIM:311200	OFD1	8481	HP:0000199	Tongue nodules
OMIM:311200	OFD1	8481	HP:0011069	Increased number of teeth
OMIM:311200	OFD1	8481	HP:0000324	Facial asymmetry
OMIM:311200	OFD1	8481	HP:0000238	Hydrocephalus
OMIM:311200	OFD1	8481	HP:0001159	Syndactyly
OMIM:311200	OFD1	8481	HP:0001627	Abnormal heart morphology
OMIM:311200	OFD1	8481	HP:0001317	Abnormality of the cerebellum
OMIM:311200	OFD1	8481	HP:0000161	Median cleft lip
OMIM:311200	OFD1	8481	HP:0009466	Radial deviation of finger
OMIM:311200	OFD1	8481	HP:0000431	Wide nasal bridge
OMIM:311200	OFD1	8481	HP:0000308	Microretrognathia
OMIM:311200	OFD1	8481	HP:0001250	Seizures
OMIM:311200	OFD1	8481	HP:0000369	Low-set ears
OMIM:311200	OFD1	8481	HP:0000138	Ovarian cyst
OMIM:311200	OFD1	8481	HP:0006297	Hypoplasia of dental enamel
OMIM:311200	OFD1	8481	HP:0009085	Alveolar ridge overgrowth
OMIM:311200	OFD1	8481	HP:0001780	Abnormality of toe
OMIM:311200	OFD1	8481	HP:0000670	Carious teeth
OMIM:311200	OFD1	8481	HP:0002536	Abnormal cortical gyration
OMIM:311200	OFD1	8481	HP:0000316	Hypertelorism
OMIM:311200	OFD1	8481	HP:0001596	Alopecia
OMIM:311200	OFD1	8481	HP:0004322	Short stature
OMIM:311200	OFD1	8481	HP:0001249	Intellectual disability
OMIM:311200	OFD1	8481	HP:0006349	Agenesis of permanent teeth
OMIM:311200	OFD1	8481	HP:0002007	Frontal bossing
OMIM:311200	OFD1	8481	HP:0000175	Cleft palate
OMIM:311200	OFD1	8481	HP:0001395	Hepatic fibrosis
OMIM:614111	PDHB	5162	HP:0000007	Autosomal recessive inheritance
OMIM:614111	PDHB	5162	HP:0003128	Lactic acidosis
OMIM:614111	PDHB	5162	HP:0001290	Generalized hypotonia
ORPHA:215	SLC24A1	9187	HP:0007766	Optic disc hypoplasia
ORPHA:215	SLC24A1	9187	HP:0000662	Nyctalopia
ORPHA:215	SLC24A1	9187	HP:0011003	Severe Myopia
ORPHA:215	SLC24A1	9187	HP:0007663	Reduced visual acuity
ORPHA:215	SLC24A1	9187	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	GRM6	2916	HP:0007766	Optic disc hypoplasia
ORPHA:215	GRM6	2916	HP:0000662	Nyctalopia
ORPHA:215	GRM6	2916	HP:0011003	Severe Myopia
ORPHA:215	GRM6	2916	HP:0007663	Reduced visual acuity
ORPHA:215	GRM6	2916	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	PDE6B	5158	HP:0007766	Optic disc hypoplasia
ORPHA:215	PDE6B	5158	HP:0000662	Nyctalopia
ORPHA:215	PDE6B	5158	HP:0011003	Severe Myopia
ORPHA:215	PDE6B	5158	HP:0007663	Reduced visual acuity
ORPHA:215	PDE6B	5158	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	CACNA1F	778	HP:0007766	Optic disc hypoplasia
ORPHA:215	CACNA1F	778	HP:0000662	Nyctalopia
ORPHA:215	CACNA1F	778	HP:0011003	Severe Myopia
ORPHA:215	CACNA1F	778	HP:0007663	Reduced visual acuity
ORPHA:215	CACNA1F	778	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	LRIT3	345193	HP:0007766	Optic disc hypoplasia
ORPHA:215	LRIT3	345193	HP:0000662	Nyctalopia
ORPHA:215	LRIT3	345193	HP:0011003	Severe Myopia
ORPHA:215	LRIT3	345193	HP:0007663	Reduced visual acuity
ORPHA:215	LRIT3	345193	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	CABP4	57010	HP:0007766	Optic disc hypoplasia
ORPHA:215	CABP4	57010	HP:0000662	Nyctalopia
ORPHA:215	CABP4	57010	HP:0011003	Severe Myopia
ORPHA:215	CABP4	57010	HP:0007663	Reduced visual acuity
ORPHA:215	CABP4	57010	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	CACNA2D4	93589	HP:0007766	Optic disc hypoplasia
ORPHA:215	CACNA2D4	93589	HP:0000662	Nyctalopia
ORPHA:215	CACNA2D4	93589	HP:0011003	Severe Myopia
ORPHA:215	CACNA2D4	93589	HP:0007663	Reduced visual acuity
ORPHA:215	CACNA2D4	93589	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	TRPM1	4308	HP:0007766	Optic disc hypoplasia
ORPHA:215	TRPM1	4308	HP:0000662	Nyctalopia
ORPHA:215	TRPM1	4308	HP:0011003	Severe Myopia
ORPHA:215	TRPM1	4308	HP:0007663	Reduced visual acuity
ORPHA:215	TRPM1	4308	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	GPR179	440435	HP:0007766	Optic disc hypoplasia
ORPHA:215	GPR179	440435	HP:0000662	Nyctalopia
ORPHA:215	GPR179	440435	HP:0011003	Severe Myopia
ORPHA:215	GPR179	440435	HP:0007663	Reduced visual acuity
ORPHA:215	GPR179	440435	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	SAG	6295	HP:0007766	Optic disc hypoplasia
ORPHA:215	SAG	6295	HP:0000662	Nyctalopia
ORPHA:215	SAG	6295	HP:0011003	Severe Myopia
ORPHA:215	SAG	6295	HP:0007663	Reduced visual acuity
ORPHA:215	SAG	6295	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	RHO	6010	HP:0007766	Optic disc hypoplasia
ORPHA:215	RHO	6010	HP:0000662	Nyctalopia
ORPHA:215	RHO	6010	HP:0011003	Severe Myopia
ORPHA:215	RHO	6010	HP:0007663	Reduced visual acuity
ORPHA:215	RHO	6010	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	NYX	60506	HP:0007766	Optic disc hypoplasia
ORPHA:215	NYX	60506	HP:0000662	Nyctalopia
ORPHA:215	NYX	60506	HP:0011003	Severe Myopia
ORPHA:215	NYX	60506	HP:0007663	Reduced visual acuity
ORPHA:215	NYX	60506	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	GNAT1	2779	HP:0007766	Optic disc hypoplasia
ORPHA:215	GNAT1	2779	HP:0000662	Nyctalopia
ORPHA:215	GNAT1	2779	HP:0011003	Severe Myopia
ORPHA:215	GNAT1	2779	HP:0007663	Reduced visual acuity
ORPHA:215	GNAT1	2779	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	GRK1	6011	HP:0007766	Optic disc hypoplasia
ORPHA:215	GRK1	6011	HP:0000662	Nyctalopia
ORPHA:215	GRK1	6011	HP:0011003	Severe Myopia
ORPHA:215	GRK1	6011	HP:0007663	Reduced visual acuity
ORPHA:215	GRK1	6011	HP:0008002	Abnormality of macular pigmentation
ORPHA:169095	FOXN1	8456	HP:0002721	Immunodeficiency
ORPHA:169095	FOXN1	8456	HP:0005403	Decrease in T cell count
ORPHA:169095	FOXN1	8456	HP:0001803	Nail pits
ORPHA:169095	FOXN1	8456	HP:0001807	Ridged nail
ORPHA:169095	FOXN1	8456	HP:0005597	Congenital alopecia totalis
OMIM:609524	FLNC	2318	HP:0000759	Abnormal peripheral nervous system morphology
OMIM:609524	FLNC	2318	HP:0003581	Adult onset
OMIM:609524	FLNC	2318	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609524	FLNC	2318	HP:0000006	Autosomal dominant inheritance
OMIM:609524	FLNC	2318	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
OMIM:609524	FLNC	2318	HP:0003715	Myofibrillar myopathy
OMIM:609524	FLNC	2318	HP:0003701	Proximal muscle weakness
OMIM:609524	FLNC	2318	HP:0003677	Slow progression
OMIM:609524	FLNC	2318	HP:0003551	Difficulty climbing stairs
OMIM:609524	FLNC	2318	HP:0002093	Respiratory insufficiency
OMIM:609524	FLNC	2318	HP:0003555	Muscle fiber splitting
OMIM:609524	FLNC	2318	HP:0002515	Waddling gait
ORPHA:30	UMPS	7372	HP:0000431	Wide nasal bridge
ORPHA:30	UMPS	7372	HP:0003526	Orotic acid crystalluria
ORPHA:30	UMPS	7372	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:30	UMPS	7372	HP:0000494	Downslanted palpebral fissures
ORPHA:30	UMPS	7372	HP:0001903	Anemia
ORPHA:30	UMPS	7372	HP:0003218	Oroticaciduria
ORPHA:30	UMPS	7372	HP:0000069	Abnormality of the ureter
ORPHA:30	UMPS	7372	HP:0008388	Abnormal toenail morphology
ORPHA:30	UMPS	7372	HP:0005435	Impaired T cell function
ORPHA:30	UMPS	7372	HP:0000316	Hypertelorism
ORPHA:30	UMPS	7372	HP:0001643	Patent ductus arteriosus
ORPHA:30	UMPS	7372	HP:0001744	Splenomegaly
ORPHA:30	UMPS	7372	HP:0001385	Hip dysplasia
ORPHA:30	UMPS	7372	HP:0001263	Global developmental delay
ORPHA:30	UMPS	7372	HP:0002205	Recurrent respiratory infections
ORPHA:30	UMPS	7372	HP:0003355	Aminoaciduria
ORPHA:1507	ROR2	4920	HP:0000365	Hearing impairment
ORPHA:1507	ROR2	4920	HP:0003422	Vertebral segmentation defect
ORPHA:1507	ROR2	4920	HP:0010296	Ankyloglossia
ORPHA:1507	ROR2	4920	HP:0011304	Broad thumb
ORPHA:1507	ROR2	4920	HP:0000316	Hypertelorism
ORPHA:1507	ROR2	4920	HP:0000902	Rib fusion
ORPHA:1507	ROR2	4920	HP:0000389	Chronic otitis media
ORPHA:1507	ROR2	4920	HP:0000767	Pectus excavatum
ORPHA:1507	ROR2	4920	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1507	ROR2	4920	HP:0000286	Epicanthus
ORPHA:1507	ROR2	4920	HP:0002714	Downturned corners of mouth
ORPHA:1507	ROR2	4920	HP:0008736	Hypoplasia of penis
ORPHA:1507	ROR2	4920	HP:0000582	Upslanted palpebral fissure
ORPHA:1507	ROR2	4920	HP:0000637	Long palpebral fissure
ORPHA:1507	ROR2	4920	HP:0000256	Macrocephaly
ORPHA:1507	ROR2	4920	HP:0000527	Long eyelashes
ORPHA:1507	ROR2	4920	HP:0000347	Micrognathia
ORPHA:1507	ROR2	4920	HP:0000154	Wide mouth
ORPHA:1507	ROR2	4920	HP:0001156	Brachydactyly
ORPHA:1507	ROR2	4920	HP:0003196	Short nose
ORPHA:1507	ROR2	4920	HP:0000343	Long philtrum
ORPHA:1507	ROR2	4920	HP:0003042	Elbow dislocation
ORPHA:1507	ROR2	4920	HP:0010807	Open bite
ORPHA:1507	ROR2	4920	HP:0012815	Hypoplastic female external genitalia
ORPHA:1507	ROR2	4920	HP:0008873	Disproportionate short-limb short stature
ORPHA:1507	ROR2	4920	HP:0010297	Bifid tongue
ORPHA:1507	ROR2	4920	HP:0000520	Proptosis
ORPHA:1507	ROR2	4920	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1507	ROR2	4920	HP:0002650	Scoliosis
ORPHA:1507	ROR2	4920	HP:0000431	Wide nasal bridge
ORPHA:1507	ROR2	4920	HP:0100798	Fingernail dysplasia
ORPHA:1507	ROR2	4920	HP:0000028	Cryptorchidism
ORPHA:1507	ROR2	4920	HP:0002007	Frontal bossing
ORPHA:1507	ROR2	4920	HP:0011800	Midface retrusion
ORPHA:1507	ROR2	4920	HP:0000463	Anteverted nares
ORPHA:1507	ROR2	4920	HP:0001537	Umbilical hernia
ORPHA:1507	ROR2	4920	HP:0009882	Short distal phalanx of finger
ORPHA:1507	ROR2	4920	HP:0010059	Broad hallux phalanx
ORPHA:1507	ROR2	4920	HP:0000212	Gingival overgrowth
ORPHA:1507	ROR2	4920	HP:0010804	Tented upper lip vermilion
ORPHA:1507	ROR2	4920	HP:0005280	Depressed nasal bridge
ORPHA:1507	ROR2	4920	HP:0003027	Mesomelia
ORPHA:1507	ROR2	4920	HP:0002808	Kyphosis
ORPHA:1880	MYH7	4625	HP:0005110	Atrial fibrillation
ORPHA:1880	MYH7	4625	HP:0001631	Atrial septal defect
ORPHA:1880	MYH7	4625	HP:0001622	Premature birth
ORPHA:1880	MYH7	4625	HP:0002093	Respiratory insufficiency
ORPHA:1880	MYH7	4625	HP:0011575	Imperforate tricuspid valve
ORPHA:1880	MYH7	4625	HP:0011712	Right bundle branch block
ORPHA:1880	MYH7	4625	HP:0010316	Ebstein's anomaly of the tricuspid valve
ORPHA:1880	MYH7	4625	HP:0001643	Patent ductus arteriosus
ORPHA:1880	MYH7	4625	HP:0012378	Fatigue
ORPHA:1880	MYH7	4625	HP:0100749	Chest pain
OMIM:210720	PCNT	5116	HP:0001156	Brachydactyly
OMIM:210720	PCNT	5116	HP:0000252	Microcephaly
OMIM:210720	PCNT	5116	HP:0000540	Hypermetropia
OMIM:210720	PCNT	5116	HP:0010034	Short 1st metacarpal
OMIM:210720	PCNT	5116	HP:0003498	Disproportionate short stature
OMIM:210720	PCNT	5116	HP:0003100	Slender long bone
OMIM:210720	PCNT	5116	HP:0000047	Hypospadias
OMIM:210720	PCNT	5116	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:210720	PCNT	5116	HP:0006297	Hypoplasia of dental enamel
OMIM:210720	PCNT	5116	HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
OMIM:210720	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:210720	PCNT	5116	HP:0009882	Short distal phalanx of finger
OMIM:210720	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:210720	PCNT	5116	HP:0001263	Global developmental delay
OMIM:210720	PCNT	5116	HP:0002750	Delayed skeletal maturation
OMIM:210720	PCNT	5116	HP:0002866	Hypoplastic iliac wing
OMIM:210720	PCNT	5116	HP:0006461	Proximal femoral epiphysiolysis
OMIM:210720	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
OMIM:210720	PCNT	5116	HP:0001620	High pitched voice
OMIM:210720	PCNT	5116	HP:0003275	Narrow pelvis bone
OMIM:210720	PCNT	5116	HP:0005978	Type II diabetes mellitus
OMIM:210720	PCNT	5116	HP:0008897	Postnatal growth retardation
OMIM:210720	PCNT	5116	HP:0000957	Cafe-au-lait spot
OMIM:210720	PCNT	5116	HP:0002812	Coxa vara
OMIM:210720	PCNT	5116	HP:0000582	Upslanted palpebral fissure
OMIM:210720	PCNT	5116	HP:0000340	Sloping forehead
OMIM:210720	PCNT	5116	HP:0001956	Truncal obesity
OMIM:210720	PCNT	5116	HP:0003031	Ulnar bowing
OMIM:210720	PCNT	5116	HP:0011834	Moyamoya phenomenon
OMIM:210720	PCNT	5116	HP:0002209	Sparse scalp hair
OMIM:210720	PCNT	5116	HP:0003015	Flared metaphysis
OMIM:210720	PCNT	5116	HP:0004944	Dilatation of the cerebral artery
OMIM:210720	PCNT	5116	HP:0000426	Prominent nasal bridge
OMIM:210720	PCNT	5116	HP:0008551	Microtia
OMIM:210720	PCNT	5116	HP:0002982	Tibial bowing
OMIM:210720	PCNT	5116	HP:0000448	Prominent nose
OMIM:210720	PCNT	5116	HP:0000826	Precocious puberty
OMIM:210720	PCNT	5116	HP:0000278	Retrognathia
OMIM:210720	PCNT	5116	HP:0001249	Intellectual disability
OMIM:210720	PCNT	5116	HP:0002986	Radial bowing
ORPHA:3051	SMARCA2	6595	HP:0000233	Thin vermilion border
ORPHA:3051	SMARCA2	6595	HP:0002300	Mutism
ORPHA:3051	SMARCA2	6595	HP:0002357	Dysphasia
ORPHA:3051	SMARCA2	6595	HP:0007392	Excessive wrinkled skin
ORPHA:3051	SMARCA2	6595	HP:0000154	Wide mouth
ORPHA:3051	SMARCA2	6595	HP:0003510	Severe short stature
ORPHA:3051	SMARCA2	6595	HP:0001328	Specific learning disability
ORPHA:3051	SMARCA2	6595	HP:0001263	Global developmental delay
ORPHA:3051	SMARCA2	6595	HP:0011097	Epileptic spasms
ORPHA:3051	SMARCA2	6595	HP:0007665	Curly eyelashes
ORPHA:3051	SMARCA2	6595	HP:0100760	Clubbing of toes
ORPHA:3051	SMARCA2	6595	HP:0000463	Anteverted nares
ORPHA:3051	SMARCA2	6595	HP:0000581	Blepharophimosis
ORPHA:3051	SMARCA2	6595	HP:0004279	Short palm
ORPHA:3051	SMARCA2	6595	HP:0006610	Wide intermamillary distance
ORPHA:3051	SMARCA2	6595	HP:0001596	Alopecia
ORPHA:3051	SMARCA2	6595	HP:0000028	Cryptorchidism
ORPHA:3051	SMARCA2	6595	HP:0002650	Scoliosis
ORPHA:3051	SMARCA2	6595	HP:0000252	Microcephaly
ORPHA:3051	SMARCA2	6595	HP:0002121	Absence seizures
ORPHA:3051	SMARCA2	6595	HP:0000232	Everted lower lip vermilion
ORPHA:3051	SMARCA2	6595	HP:0000319	Smooth philtrum
ORPHA:3051	SMARCA2	6595	HP:0001006	Hypotrichosis
ORPHA:3051	SMARCA2	6595	HP:0001373	Joint dislocation
ORPHA:3051	SMARCA2	6595	HP:0010720	Abnormal hair pattern
ORPHA:3051	SMARCA2	6595	HP:0001156	Brachydactyly
ORPHA:3051	SMARCA2	6595	HP:0000343	Long philtrum
ORPHA:3051	SMARCA2	6595	HP:0000325	Triangular face
ORPHA:3051	SMARCA2	6595	HP:0002705	High, narrow palate
ORPHA:3051	SMARCA2	6595	HP:0000964	Eczema
ORPHA:3051	SMARCA2	6595	HP:0001852	Sandal gap
ORPHA:3051	SMARCA2	6595	HP:0009836	Broad distal phalanx of finger
ORPHA:3051	SMARCA2	6595	HP:0012745	Short palpebral fissure
ORPHA:3051	SMARCA2	6595	HP:0000446	Narrow nasal bridge
ORPHA:3051	SMARCA2	6595	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3051	SMARCA2	6595	HP:0000527	Long eyelashes
ORPHA:3051	SMARCA2	6595	HP:0002553	Highly arched eyebrow
ORPHA:3051	SMARCA2	6595	HP:0010529	Echolalia
ORPHA:3051	SMARCA2	6595	HP:0009928	Thick nasal alae
ORPHA:3051	SMARCA2	6595	HP:0002381	Aphasia
ORPHA:3051	SMARCA2	6595	HP:0001249	Intellectual disability
ORPHA:3051	SMARCA2	6595	HP:0002133	Status epilepticus
ORPHA:3051	ARID1B	57492	HP:0000233	Thin vermilion border
ORPHA:3051	ARID1B	57492	HP:0002300	Mutism
ORPHA:3051	ARID1B	57492	HP:0002357	Dysphasia
ORPHA:3051	ARID1B	57492	HP:0007392	Excessive wrinkled skin
ORPHA:3051	ARID1B	57492	HP:0000154	Wide mouth
ORPHA:3051	ARID1B	57492	HP:0003510	Severe short stature
ORPHA:3051	ARID1B	57492	HP:0001328	Specific learning disability
ORPHA:3051	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:3051	ARID1B	57492	HP:0011097	Epileptic spasms
ORPHA:3051	ARID1B	57492	HP:0007665	Curly eyelashes
ORPHA:3051	ARID1B	57492	HP:0100760	Clubbing of toes
ORPHA:3051	ARID1B	57492	HP:0000463	Anteverted nares
ORPHA:3051	ARID1B	57492	HP:0000581	Blepharophimosis
ORPHA:3051	ARID1B	57492	HP:0004279	Short palm
ORPHA:3051	ARID1B	57492	HP:0006610	Wide intermamillary distance
ORPHA:3051	ARID1B	57492	HP:0001596	Alopecia
ORPHA:3051	ARID1B	57492	HP:0000028	Cryptorchidism
ORPHA:3051	ARID1B	57492	HP:0002650	Scoliosis
ORPHA:3051	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:3051	ARID1B	57492	HP:0002121	Absence seizures
ORPHA:3051	ARID1B	57492	HP:0000232	Everted lower lip vermilion
ORPHA:3051	ARID1B	57492	HP:0000319	Smooth philtrum
ORPHA:3051	ARID1B	57492	HP:0001006	Hypotrichosis
ORPHA:3051	ARID1B	57492	HP:0001373	Joint dislocation
ORPHA:3051	ARID1B	57492	HP:0010720	Abnormal hair pattern
ORPHA:3051	ARID1B	57492	HP:0001156	Brachydactyly
ORPHA:3051	ARID1B	57492	HP:0000343	Long philtrum
ORPHA:3051	ARID1B	57492	HP:0000325	Triangular face
ORPHA:3051	ARID1B	57492	HP:0002705	High, narrow palate
ORPHA:3051	ARID1B	57492	HP:0000964	Eczema
ORPHA:3051	ARID1B	57492	HP:0001852	Sandal gap
ORPHA:3051	ARID1B	57492	HP:0009836	Broad distal phalanx of finger
ORPHA:3051	ARID1B	57492	HP:0012745	Short palpebral fissure
ORPHA:3051	ARID1B	57492	HP:0000446	Narrow nasal bridge
ORPHA:3051	ARID1B	57492	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3051	ARID1B	57492	HP:0000527	Long eyelashes
ORPHA:3051	ARID1B	57492	HP:0002553	Highly arched eyebrow
ORPHA:3051	ARID1B	57492	HP:0010529	Echolalia
ORPHA:3051	ARID1B	57492	HP:0009928	Thick nasal alae
ORPHA:3051	ARID1B	57492	HP:0002381	Aphasia
ORPHA:3051	ARID1B	57492	HP:0001249	Intellectual disability
ORPHA:3051	ARID1B	57492	HP:0002133	Status epilepticus
ORPHA:99429	AR	367	HP:0008655	Aplasia/Hypoplasia of the fallopian tube
ORPHA:99429	AR	367	HP:0002555	Absent pubic hair
ORPHA:99429	AR	367	HP:0000786	Primary amenorrhea
ORPHA:99429	AR	367	HP:0000789	Infertility
ORPHA:99429	AR	367	HP:0000939	Osteoporosis
ORPHA:99429	AR	367	HP:0000028	Cryptorchidism
ORPHA:99429	AR	367	HP:0000023	Inguinal hernia
ORPHA:99429	AR	367	HP:0000151	Aplasia of the uterus
ORPHA:99429	AR	367	HP:0000787	Nephrolithiasis
ORPHA:99429	AR	367	HP:0000037	Male pseudohermaphroditism
ORPHA:99429	AR	367	HP:0002221	Absent axillary hair
OMIM:142669	UFSP2	55325	HP:0003182	Shallow acetabular fossae
OMIM:142669	UFSP2	55325	HP:0006429	Broad femoral neck
OMIM:142669	UFSP2	55325	HP:0000006	Autosomal dominant inheritance
OMIM:142669	UFSP2	55325	HP:0008783	Wide proximal femoral metaphysis
OMIM:142669	UFSP2	55325	HP:0002758	Osteoarthritis
OMIM:142669	UFSP2	55325	HP:0011463	Childhood onset
OMIM:142669	UFSP2	55325	HP:0005041	Irregular capital femoral epiphysis
OMIM:142669	UFSP2	55325	HP:0001385	Hip dysplasia
OMIM:142669	UFSP2	55325	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:142669	UFSP2	55325	HP:0003370	Flat capital femoral epiphysis
OMIM:607641	DCTN1	1639	HP:0003581	Adult onset
OMIM:607641	DCTN1	1639	HP:0003677	Slow progression
OMIM:607641	DCTN1	1639	HP:0009130	Hand muscle atrophy
OMIM:607641	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:607641	DCTN1	1639	HP:0001605	Vocal cord paralysis
OMIM:607641	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:607641	DCTN1	1639	HP:0030237	Hand muscle weakness
OMIM:607641	DCTN1	1639	HP:0007340	Lower limb muscle weakness
OMIM:607641	DCTN1	1639	HP:0002366	Abnormal lower motor neuron morphology
OMIM:607641	DCTN1	1639	HP:0003693	Distal amyotrophy
OMIM:607641	DCTN1	1639	HP:0010628	Facial palsy
OMIM:617222	PPA2	27068	HP:0001685	Myocardial fibrosis
OMIM:617222	PPA2	27068	HP:0000007	Autosomal recessive inheritance
OMIM:617222	PPA2	27068	HP:0012819	Myocarditis
OMIM:617222	PPA2	27068	HP:0001635	Congestive heart failure
OMIM:617222	PPA2	27068	HP:0001662	Bradycardia
OMIM:616279	UNC45B	146862	HP:0000006	Autosomal dominant inheritance
OMIM:616279	UNC45B	146862	HP:0000523	Subcapsular cataract
OMIM:209900	MKKS	8195	HP:0001395	Hepatic fibrosis
OMIM:209900	MKKS	8195	HP:0001328	Specific learning disability
OMIM:209900	MKKS	8195	HP:0002141	Gait imbalance
OMIM:209900	MKKS	8195	HP:0007707	Congenital primary aphakia
OMIM:209900	MKKS	8195	HP:0000668	Hypodontia
OMIM:209900	MKKS	8195	HP:0001249	Intellectual disability
OMIM:209900	MKKS	8195	HP:0001712	Left ventricular hypertrophy
OMIM:209900	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:209900	MKKS	8195	HP:0001513	Obesity
OMIM:209900	MKKS	8195	HP:0001829	Foot polydactyly
OMIM:209900	MKKS	8195	HP:0001251	Ataxia
OMIM:209900	MKKS	8195	HP:0000678	Dental crowding
OMIM:209900	MKKS	8195	HP:0001159	Syndactyly
OMIM:209900	MKKS	8195	HP:0001769	Broad foot
OMIM:209900	MKKS	8195	HP:0001263	Global developmental delay
OMIM:209900	MKKS	8195	HP:0002705	High, narrow palate
OMIM:209900	MKKS	8195	HP:0000639	Nystagmus
OMIM:209900	MKKS	8195	HP:0000822	Hypertension
OMIM:209900	MKKS	8195	HP:0001773	Short foot
OMIM:209900	MKKS	8195	HP:0000750	Delayed speech and language development
OMIM:209900	MKKS	8195	HP:0000007	Autosomal recessive inheritance
OMIM:209900	MKKS	8195	HP:0002099	Asthma
OMIM:209900	MKKS	8195	HP:0001007	Hirsutism
OMIM:209900	MKKS	8195	HP:0000819	Diabetes mellitus
OMIM:209900	MKKS	8195	HP:0008734	Decreased testicular size
OMIM:209900	MKKS	8195	HP:0002167	Neurological speech impairment
OMIM:209900	MKKS	8195	HP:0001080	Biliary tract abnormality
OMIM:209900	MKKS	8195	HP:0009806	Nephrogenic diabetes insipidus
OMIM:209900	MKKS	8195	HP:0000135	Hypogonadism
OMIM:209900	MKKS	8195	HP:0009466	Radial deviation of finger
OMIM:209900	MKKS	8195	HP:0000486	Strabismus
OMIM:209900	MKKS	8195	HP:0002370	Poor coordination
OMIM:209900	MKKS	8195	HP:0001162	Postaxial hand polydactyly
OMIM:209900	MKKS	8195	HP:0001156	Brachydactyly
OMIM:209900	SDCCAG8	10806	HP:0001395	Hepatic fibrosis
OMIM:209900	SDCCAG8	10806	HP:0001328	Specific learning disability
OMIM:209900	SDCCAG8	10806	HP:0002141	Gait imbalance
OMIM:209900	SDCCAG8	10806	HP:0007707	Congenital primary aphakia
OMIM:209900	SDCCAG8	10806	HP:0000668	Hypodontia
OMIM:209900	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:209900	SDCCAG8	10806	HP:0001712	Left ventricular hypertrophy
OMIM:209900	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:209900	SDCCAG8	10806	HP:0001513	Obesity
OMIM:209900	SDCCAG8	10806	HP:0001829	Foot polydactyly
OMIM:209900	SDCCAG8	10806	HP:0001251	Ataxia
OMIM:209900	SDCCAG8	10806	HP:0000678	Dental crowding
OMIM:209900	SDCCAG8	10806	HP:0001159	Syndactyly
OMIM:209900	SDCCAG8	10806	HP:0001769	Broad foot
OMIM:209900	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:209900	SDCCAG8	10806	HP:0002705	High, narrow palate
OMIM:209900	SDCCAG8	10806	HP:0000639	Nystagmus
OMIM:209900	SDCCAG8	10806	HP:0000822	Hypertension
OMIM:209900	SDCCAG8	10806	HP:0001773	Short foot
OMIM:209900	SDCCAG8	10806	HP:0000750	Delayed speech and language development
OMIM:209900	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:209900	SDCCAG8	10806	HP:0002099	Asthma
OMIM:209900	SDCCAG8	10806	HP:0001007	Hirsutism
OMIM:209900	SDCCAG8	10806	HP:0000819	Diabetes mellitus
OMIM:209900	SDCCAG8	10806	HP:0008734	Decreased testicular size
OMIM:209900	SDCCAG8	10806	HP:0002167	Neurological speech impairment
OMIM:209900	SDCCAG8	10806	HP:0001080	Biliary tract abnormality
OMIM:209900	SDCCAG8	10806	HP:0009806	Nephrogenic diabetes insipidus
OMIM:209900	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:209900	SDCCAG8	10806	HP:0009466	Radial deviation of finger
OMIM:209900	SDCCAG8	10806	HP:0000486	Strabismus
OMIM:209900	SDCCAG8	10806	HP:0002370	Poor coordination
OMIM:209900	SDCCAG8	10806	HP:0001162	Postaxial hand polydactyly
OMIM:209900	SDCCAG8	10806	HP:0001156	Brachydactyly
OMIM:209900	BBS1	582	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS1	582	HP:0001328	Specific learning disability
OMIM:209900	BBS1	582	HP:0002141	Gait imbalance
OMIM:209900	BBS1	582	HP:0007707	Congenital primary aphakia
OMIM:209900	BBS1	582	HP:0000668	Hypodontia
OMIM:209900	BBS1	582	HP:0001249	Intellectual disability
OMIM:209900	BBS1	582	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS1	582	HP:0000546	Retinal degeneration
OMIM:209900	BBS1	582	HP:0001513	Obesity
OMIM:209900	BBS1	582	HP:0001829	Foot polydactyly
OMIM:209900	BBS1	582	HP:0001251	Ataxia
OMIM:209900	BBS1	582	HP:0000678	Dental crowding
OMIM:209900	BBS1	582	HP:0001159	Syndactyly
OMIM:209900	BBS1	582	HP:0001769	Broad foot
OMIM:209900	BBS1	582	HP:0001263	Global developmental delay
OMIM:209900	BBS1	582	HP:0002705	High, narrow palate
OMIM:209900	BBS1	582	HP:0000639	Nystagmus
OMIM:209900	BBS1	582	HP:0000822	Hypertension
OMIM:209900	BBS1	582	HP:0001773	Short foot
OMIM:209900	BBS1	582	HP:0000750	Delayed speech and language development
OMIM:209900	BBS1	582	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS1	582	HP:0002099	Asthma
OMIM:209900	BBS1	582	HP:0001007	Hirsutism
OMIM:209900	BBS1	582	HP:0000819	Diabetes mellitus
OMIM:209900	BBS1	582	HP:0008734	Decreased testicular size
OMIM:209900	BBS1	582	HP:0002167	Neurological speech impairment
OMIM:209900	BBS1	582	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS1	582	HP:0009806	Nephrogenic diabetes insipidus
OMIM:209900	BBS1	582	HP:0000135	Hypogonadism
OMIM:209900	BBS1	582	HP:0009466	Radial deviation of finger
OMIM:209900	BBS1	582	HP:0000486	Strabismus
OMIM:209900	BBS1	582	HP:0002370	Poor coordination
OMIM:209900	BBS1	582	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS1	582	HP:0001156	Brachydactyly
OMIM:209900	BBS4	585	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS4	585	HP:0001328	Specific learning disability
OMIM:209900	BBS4	585	HP:0002141	Gait imbalance
OMIM:209900	BBS4	585	HP:0007707	Congenital primary aphakia
OMIM:209900	BBS4	585	HP:0000668	Hypodontia
OMIM:209900	BBS4	585	HP:0001249	Intellectual disability
OMIM:209900	BBS4	585	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS4	585	HP:0000546	Retinal degeneration
OMIM:209900	BBS4	585	HP:0001513	Obesity
OMIM:209900	BBS4	585	HP:0001829	Foot polydactyly
OMIM:209900	BBS4	585	HP:0001251	Ataxia
OMIM:209900	BBS4	585	HP:0000678	Dental crowding
OMIM:209900	BBS4	585	HP:0001159	Syndactyly
OMIM:209900	BBS4	585	HP:0001769	Broad foot
OMIM:209900	BBS4	585	HP:0001263	Global developmental delay
OMIM:209900	BBS4	585	HP:0002705	High, narrow palate
OMIM:209900	BBS4	585	HP:0000639	Nystagmus
OMIM:209900	BBS4	585	HP:0000822	Hypertension
OMIM:209900	BBS4	585	HP:0001773	Short foot
OMIM:209900	BBS4	585	HP:0000750	Delayed speech and language development
OMIM:209900	BBS4	585	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS4	585	HP:0002099	Asthma
OMIM:209900	BBS4	585	HP:0001007	Hirsutism
OMIM:209900	BBS4	585	HP:0000819	Diabetes mellitus
OMIM:209900	BBS4	585	HP:0008734	Decreased testicular size
OMIM:209900	BBS4	585	HP:0002167	Neurological speech impairment
OMIM:209900	BBS4	585	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS4	585	HP:0009806	Nephrogenic diabetes insipidus
OMIM:209900	BBS4	585	HP:0000135	Hypogonadism
OMIM:209900	BBS4	585	HP:0009466	Radial deviation of finger
OMIM:209900	BBS4	585	HP:0000486	Strabismus
OMIM:209900	BBS4	585	HP:0002370	Poor coordination
OMIM:209900	BBS4	585	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS4	585	HP:0001156	Brachydactyly
OMIM:614470	NRAS	4893	HP:0005523	Lymphoproliferative disorder
OMIM:614470	NRAS	4893	HP:0002731	Decreased lymphocyte apoptosis
OMIM:614470	NRAS	4893	HP:0002240	Hepatomegaly
OMIM:614470	NRAS	4893	HP:0010702	Increased antibody level in blood
OMIM:614470	NRAS	4893	HP:0001744	Splenomegaly
OMIM:614470	NRAS	4893	HP:0002665	Lymphoma
OMIM:614470	NRAS	4893	HP:0001876	Pancytopenia
OMIM:614470	NRAS	4893	HP:0001909	Leukemia
OMIM:614470	NRAS	4893	HP:0002729	Follicular hyperplasia
OMIM:614470	NRAS	4893	HP:0012311	Monocytosis
OMIM:614470	NRAS	4893	HP:0001878	Hemolytic anemia
OMIM:614470	NRAS	4893	HP:0001875	Neutropenia
OMIM:614470	NRAS	4893	HP:0001973	Autoimmune thrombocytopenia
OMIM:614470	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:252940	GNS	2799	HP:0000664	Synophrys
OMIM:252940	GNS	2799	HP:0011220	Prominent forehead
OMIM:252940	GNS	2799	HP:0000900	Thickened ribs
OMIM:252940	GNS	2799	HP:0002014	Diarrhea
OMIM:252940	GNS	2799	HP:0000280	Coarse facial features
OMIM:252940	GNS	2799	HP:0000943	Dysostosis multiplex
OMIM:252940	GNS	2799	HP:0002208	Coarse hair
OMIM:252940	GNS	2799	HP:0002007	Frontal bossing
OMIM:252940	GNS	2799	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252940	GNS	2799	HP:0001387	Joint stiffness
OMIM:252940	GNS	2799	HP:0001260	Dysarthria
OMIM:252940	GNS	2799	HP:0000752	Hyperactivity
OMIM:252940	GNS	2799	HP:0001250	Seizures
OMIM:252940	GNS	2799	HP:0002360	Sleep disturbance
OMIM:252940	GNS	2799	HP:0000154	Wide mouth
OMIM:252940	GNS	2799	HP:0000463	Anteverted nares
OMIM:252940	GNS	2799	HP:0001249	Intellectual disability
OMIM:252940	GNS	2799	HP:0001344	Absent speech
OMIM:252940	GNS	2799	HP:0000470	Short neck
OMIM:252940	GNS	2799	HP:0002159	Heparan sulfate excretion in urine
OMIM:252940	GNS	2799	HP:0002307	Drooling
OMIM:252940	GNS	2799	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252940	GNS	2799	HP:0001371	Flexion contracture
OMIM:252940	GNS	2799	HP:0002240	Hepatomegaly
OMIM:252940	GNS	2799	HP:0000365	Hearing impairment
OMIM:252940	GNS	2799	HP:0001744	Splenomegaly
OMIM:252940	GNS	2799	HP:0000007	Autosomal recessive inheritance
OMIM:252940	GNS	2799	HP:0000369	Low-set ears
OMIM:252940	GNS	2799	HP:0001007	Hirsutism
OMIM:252940	GNS	2799	HP:0001670	Asymmetric septal hypertrophy
OMIM:252940	GNS	2799	HP:0001507	Growth abnormality
OMIM:252940	GNS	2799	HP:0003653	Cellular metachromasia
OMIM:252940	GNS	2799	HP:0005280	Depressed nasal bridge
OMIM:252940	GNS	2799	HP:0000574	Thick eyebrow
OMIM:252940	GNS	2799	HP:0002015	Dysphagia
OMIM:252940	GNS	2799	HP:0003676	Progressive
OMIM:252940	GNS	2799	HP:0000179	Thick lower lip vermilion
OMIM:615362	CTSF	8722	HP:0001336	Myoclonus
OMIM:615362	CTSF	8722	HP:0003487	Babinski sign
OMIM:615362	CTSF	8722	HP:0000007	Autosomal recessive inheritance
OMIM:615362	CTSF	8722	HP:0001337	Tremor
OMIM:615362	CTSF	8722	HP:0001260	Dysarthria
OMIM:615362	CTSF	8722	HP:0003581	Adult onset
OMIM:615362	CTSF	8722	HP:0001272	Cerebellar atrophy
OMIM:615362	CTSF	8722	HP:0001251	Ataxia
OMIM:615362	CTSF	8722	HP:0001347	Hyperreflexia
OMIM:615362	CTSF	8722	HP:0000712	Emotional lability
OMIM:615362	CTSF	8722	HP:0002506	Diffuse cerebral atrophy
OMIM:615362	CTSF	8722	HP:0003676	Progressive
OMIM:615362	CTSF	8722	HP:0002476	Primitive reflex
OMIM:615362	CTSF	8722	HP:0001250	Seizures
OMIM:615362	CTSF	8722	HP:0000726	Dementia
OMIM:615362	CTSF	8722	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615362	CTSF	8722	HP:0000716	Depressivity
ORPHA:722	PLG	5340	HP:0000504	Abnormality of vision
ORPHA:722	PLG	5340	HP:0000230	Gingivitis
ORPHA:722	PLG	5340	HP:0040228	Decreased level of plasminogen
ORPHA:722	PLG	5340	HP:0000212	Gingival overgrowth
ORPHA:85445	SAA1	6288	HP:0001396	Cholestasis
ORPHA:85445	SAA1	6288	HP:0004395	Malnutrition
ORPHA:85445	SAA1	6288	HP:0000100	Nephrotic syndrome
ORPHA:85445	SAA1	6288	HP:0002024	Malabsorption
ORPHA:85445	SAA1	6288	HP:0001917	Renal amyloidosis
ORPHA:85445	SAA1	6288	HP:0002013	Vomiting
ORPHA:85445	SAA1	6288	HP:0000105	Enlarged kidney
ORPHA:85445	SAA1	6288	HP:0002027	Abdominal pain
ORPHA:85445	SAA1	6288	HP:0002240	Hepatomegaly
ORPHA:85445	SAA1	6288	HP:0000093	Proteinuria
ORPHA:85445	SAA1	6288	HP:0002615	Hypotension
ORPHA:85445	SAA1	6288	HP:0002018	Nausea
ORPHA:85445	SAA1	6288	HP:0004936	Venous thrombosis
ORPHA:85445	SAA1	6288	HP:0012622	Chronic kidney disease
ORPHA:85445	SAA1	6288	HP:0000112	Nephropathy
ORPHA:85445	SAA1	6288	HP:0002028	Chronic diarrhea
ORPHA:85445	SAA1	6288	HP:0011830	Abnormality of oral mucosa
ORPHA:440713	SHPK	23729	HP:0001385	Hip dysplasia
ORPHA:440713	SHPK	23729	HP:0000023	Inguinal hernia
ORPHA:440713	SHPK	23729	HP:0000586	Shallow orbits
ORPHA:440713	SHPK	23729	HP:0001409	Portal hypertension
ORPHA:440713	SHPK	23729	HP:0000239	Large fontanelles
ORPHA:440713	SHPK	23729	HP:0000601	Hypotelorism
ORPHA:440713	SHPK	23729	HP:0002570	Steatorrhea
ORPHA:440713	SHPK	23729	HP:0004322	Short stature
ORPHA:440713	SHPK	23729	HP:0001540	Diastasis recti
ORPHA:440713	SHPK	23729	HP:0000256	Macrocephaly
ORPHA:440713	SHPK	23729	HP:0002611	Cholestatic liver disease
ORPHA:440713	SHPK	23729	HP:0012157	Subcortical cerebral atrophy
ORPHA:440713	SHPK	23729	HP:0011998	Postprandial hyperglycemia
ORPHA:440713	SHPK	23729	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:440713	SHPK	23729	HP:0000348	High forehead
ORPHA:440713	SHPK	23729	HP:0002119	Ventriculomegaly
ORPHA:440713	SHPK	23729	HP:0012768	Neonatal asphyxia
ORPHA:440713	SHPK	23729	HP:0012115	Hepatitis
ORPHA:440713	SHPK	23729	HP:0008850	Severe postnatal growth retardation
ORPHA:440713	SHPK	23729	HP:0011400	Abnormal CNS myelination
ORPHA:440713	SHPK	23729	HP:0001623	Breech presentation
ORPHA:440713	SHPK	23729	HP:0000091	Abnormality of the renal tubule
ORPHA:440713	SHPK	23729	HP:0000083	Renal insufficiency
ORPHA:440713	SHPK	23729	HP:0004840	Hypochromic microcytic anemia
OMIM:610743	SYNE1	23345	HP:0000007	Autosomal recessive inheritance
OMIM:610743	SYNE1	23345	HP:0001272	Cerebellar atrophy
OMIM:610743	SYNE1	23345	HP:0003581	Adult onset
OMIM:610743	SYNE1	23345	HP:0002070	Limb ataxia
OMIM:610743	SYNE1	23345	HP:0001310	Dysmetria
OMIM:610743	SYNE1	23345	HP:0000639	Nystagmus
OMIM:610743	SYNE1	23345	HP:0001260	Dysarthria
OMIM:610743	SYNE1	23345	HP:0002066	Gait ataxia
OMIM:610743	SYNE1	23345	HP:0003677	Slow progression
ORPHA:217377	IQSEC2	23096	HP:0001763	Pes planus
ORPHA:217377	IQSEC2	23096	HP:0000750	Delayed speech and language development
ORPHA:217377	IQSEC2	23096	HP:0001250	Seizures
ORPHA:217377	IQSEC2	23096	HP:0001513	Obesity
ORPHA:217377	IQSEC2	23096	HP:0001609	Hoarse voice
ORPHA:217377	IQSEC2	23096	HP:0001770	Toe syndactyly
ORPHA:217377	IQSEC2	23096	HP:0012557	EEG with centrotemporal focal spike waves
ORPHA:217377	IQSEC2	23096	HP:0001761	Pes cavus
ORPHA:217377	IQSEC2	23096	HP:0001249	Intellectual disability
ORPHA:217377	IQSEC2	23096	HP:0000826	Precocious puberty
ORPHA:217377	IQSEC2	23096	HP:0001611	Nasal speech
OMIM:610913	SFTPC	6440	HP:0000961	Cyanosis
OMIM:610913	SFTPC	6440	HP:0001217	Clubbing
OMIM:610913	SFTPC	6440	HP:0003829	Incomplete penetrance
OMIM:610913	SFTPC	6440	HP:0002789	Tachypnea
OMIM:610913	SFTPC	6440	HP:0001425	Heterogeneous
OMIM:610913	SFTPC	6440	HP:0002205	Recurrent respiratory infections
OMIM:610913	SFTPC	6440	HP:0006517	Alveolar proteinosis
OMIM:610913	SFTPC	6440	HP:0002098	Respiratory distress
OMIM:610913	SFTPC	6440	HP:0006515	Interstitial pneumonitis
OMIM:610913	SFTPC	6440	HP:0000006	Autosomal dominant inheritance
OMIM:610913	SFTPC	6440	HP:0001508	Failure to thrive
OMIM:610913	SFTPC	6440	HP:0005576	Tubulointerstitial fibrosis
OMIM:604326	PPP2R2B	5521	HP:0000739	Anxiety
OMIM:604326	PPP2R2B	5521	HP:0000317	Facial myokymia
OMIM:604326	PPP2R2B	5521	HP:0001300	Parkinsonism
OMIM:604326	PPP2R2B	5521	HP:0001347	Hyperreflexia
OMIM:604326	PPP2R2B	5521	HP:0000746	Delusions
OMIM:604326	PPP2R2B	5521	HP:0000006	Autosomal dominant inheritance
OMIM:604326	PPP2R2B	5521	HP:0001272	Cerebellar atrophy
OMIM:604326	PPP2R2B	5521	HP:0002346	Head tremor
OMIM:604326	PPP2R2B	5521	HP:0002530	Axial dystonia
OMIM:604326	PPP2R2B	5521	HP:0002345	Action tremor
OMIM:604326	PPP2R2B	5521	HP:0002120	Cerebral cortical atrophy
OMIM:604326	PPP2R2B	5521	HP:0000496	Abnormality of eye movement
OMIM:604326	PPP2R2B	5521	HP:0002073	Progressive cerebellar ataxia
OMIM:604326	PPP2R2B	5521	HP:0000726	Dementia
OMIM:604326	PPP2R2B	5521	HP:0007141	Sensorimotor neuropathy
OMIM:604326	PPP2R2B	5521	HP:0002075	Dysdiadochokinesis
OMIM:604326	PPP2R2B	5521	HP:0000716	Depressivity
OMIM:604326	PPP2R2B	5521	HP:0001260	Dysarthria
OMIM:604326	PPP2R2B	5521	HP:0001310	Dysmetria
OMIM:308700	ANOS1	3730	HP:0000218	High palate
OMIM:308700	ANOS1	3730	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
OMIM:308700	ANOS1	3730	HP:0000122	Unilateral renal agenesis
OMIM:308700	ANOS1	3730	HP:0001335	Bimanual synkinesia
OMIM:308700	ANOS1	3730	HP:0001341	Olfactory lobe agenesis
OMIM:308700	ANOS1	3730	HP:0000458	Anosmia
OMIM:308700	ANOS1	3730	HP:0030341	Decreased circulating follicle stimulating hormone level
OMIM:308700	ANOS1	3730	HP:0000054	Micropenis
OMIM:308700	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:308700	ANOS1	3730	HP:0030344	Decreased circulating luteinizing hormone level
OMIM:308700	ANOS1	3730	HP:0003782	Eunuchoid habitus
OMIM:308700	ANOS1	3730	HP:0000027	Azoospermia
OMIM:308700	ANOS1	3730	HP:0000771	Gynecomastia
OMIM:308700	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:308700	ANOS1	3730	HP:0001251	Ataxia
OMIM:308700	ANOS1	3730	HP:0002929	Leydig cell insensitivity to gonadotropin
OMIM:308700	ANOS1	3730	HP:0001761	Pes cavus
OMIM:308700	ANOS1	3730	HP:0000029	Testicular atrophy
OMIM:308700	ANOS1	3730	HP:0002225	Sparse pubic hair
OMIM:308700	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	ANOS1	3730	HP:0001419	X-linked recessive inheritance
ORPHA:1340	BRAF	673	HP:0000508	Ptosis
ORPHA:1340	BRAF	673	HP:0002650	Scoliosis
ORPHA:1340	BRAF	673	HP:0000465	Webbed neck
ORPHA:1340	BRAF	673	HP:0000256	Macrocephaly
ORPHA:1340	BRAF	673	HP:0008064	Ichthyosis
ORPHA:1340	BRAF	673	HP:0000463	Anteverted nares
ORPHA:1340	BRAF	673	HP:0000637	Long palpebral fissure
ORPHA:1340	BRAF	673	HP:0000276	Long face
ORPHA:1340	BRAF	673	HP:0000293	Full cheeks
ORPHA:1340	BRAF	673	HP:0001048	Cavernous hemangioma
ORPHA:1340	BRAF	673	HP:0001642	Pulmonic stenosis
ORPHA:1340	BRAF	673	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1340	BRAF	673	HP:0000494	Downslanted palpebral fissures
ORPHA:1340	BRAF	673	HP:0000958	Dry skin
ORPHA:1340	BRAF	673	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:1340	BRAF	673	HP:0000316	Hypertelorism
ORPHA:1340	BRAF	673	HP:0000486	Strabismus
ORPHA:1340	BRAF	673	HP:0000504	Abnormality of vision
ORPHA:1340	BRAF	673	HP:0001631	Atrial septal defect
ORPHA:1340	BRAF	673	HP:0001531	Failure to thrive in infancy
ORPHA:1340	BRAF	673	HP:0000348	High forehead
ORPHA:1340	BRAF	673	HP:0002353	EEG abnormality
ORPHA:1340	BRAF	673	HP:0000400	Macrotia
ORPHA:1340	BRAF	673	HP:0000982	Palmoplantar keratoderma
ORPHA:1340	BRAF	673	HP:0004422	Biparietal narrowing
ORPHA:1340	BRAF	673	HP:0008070	Sparse hair
ORPHA:1340	BRAF	673	HP:0003196	Short nose
ORPHA:1340	BRAF	673	HP:0001263	Global developmental delay
ORPHA:1340	BRAF	673	HP:0000286	Epicanthus
ORPHA:1340	BRAF	673	HP:0200102	Sparse or absent eyelashes
ORPHA:1340	BRAF	673	HP:0001252	Muscular hypotonia
ORPHA:1340	BRAF	673	HP:0008872	Feeding difficulties in infancy
ORPHA:1340	BRAF	673	HP:0000028	Cryptorchidism
ORPHA:1340	BRAF	673	HP:0000974	Hyperextensible skin
ORPHA:1340	BRAF	673	HP:0008391	Dystrophic fingernails
ORPHA:1340	BRAF	673	HP:0000545	Myopia
ORPHA:1340	BRAF	673	HP:0006191	Deep palmar crease
ORPHA:1340	BRAF	673	HP:0000470	Short neck
ORPHA:1340	BRAF	673	HP:0002299	Brittle hair
ORPHA:1340	BRAF	673	HP:0002007	Frontal bossing
ORPHA:1340	BRAF	673	HP:0000639	Nystagmus
ORPHA:1340	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1340	BRAF	673	HP:0000767	Pectus excavatum
ORPHA:1340	BRAF	673	HP:0005280	Depressed nasal bridge
ORPHA:1340	BRAF	673	HP:0001622	Premature birth
ORPHA:1340	BRAF	673	HP:0001003	Multiple lentigines
ORPHA:1340	BRAF	673	HP:0002217	Slow-growing hair
ORPHA:1340	BRAF	673	HP:0000218	High palate
ORPHA:1340	BRAF	673	HP:0002997	Abnormality of the ulna
ORPHA:1340	BRAF	673	HP:0004322	Short stature
ORPHA:1340	BRAF	673	HP:0002162	Low posterior hairline
ORPHA:1340	BRAF	673	HP:0000391	Thickened helices
ORPHA:1340	BRAF	673	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1340	BRAF	673	HP:0007440	Generalized hyperpigmentation
ORPHA:1340	BRAF	673	HP:0000280	Coarse facial features
ORPHA:1340	BRAF	673	HP:0007392	Excessive wrinkled skin
ORPHA:1340	BRAF	673	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1340	BRAF	673	HP:0001249	Intellectual disability
ORPHA:1340	BRAF	673	HP:0002213	Fine hair
ORPHA:1340	BRAF	673	HP:0000343	Long philtrum
ORPHA:1340	MAP2K1	5604	HP:0000508	Ptosis
ORPHA:1340	MAP2K1	5604	HP:0002650	Scoliosis
ORPHA:1340	MAP2K1	5604	HP:0000465	Webbed neck
ORPHA:1340	MAP2K1	5604	HP:0000256	Macrocephaly
ORPHA:1340	MAP2K1	5604	HP:0008064	Ichthyosis
ORPHA:1340	MAP2K1	5604	HP:0000463	Anteverted nares
ORPHA:1340	MAP2K1	5604	HP:0000637	Long palpebral fissure
ORPHA:1340	MAP2K1	5604	HP:0000276	Long face
ORPHA:1340	MAP2K1	5604	HP:0000293	Full cheeks
ORPHA:1340	MAP2K1	5604	HP:0001048	Cavernous hemangioma
ORPHA:1340	MAP2K1	5604	HP:0001642	Pulmonic stenosis
ORPHA:1340	MAP2K1	5604	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1340	MAP2K1	5604	HP:0000494	Downslanted palpebral fissures
ORPHA:1340	MAP2K1	5604	HP:0000958	Dry skin
ORPHA:1340	MAP2K1	5604	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:1340	MAP2K1	5604	HP:0000316	Hypertelorism
ORPHA:1340	MAP2K1	5604	HP:0000486	Strabismus
ORPHA:1340	MAP2K1	5604	HP:0000504	Abnormality of vision
ORPHA:1340	MAP2K1	5604	HP:0001631	Atrial septal defect
ORPHA:1340	MAP2K1	5604	HP:0001531	Failure to thrive in infancy
ORPHA:1340	MAP2K1	5604	HP:0000348	High forehead
ORPHA:1340	MAP2K1	5604	HP:0002353	EEG abnormality
ORPHA:1340	MAP2K1	5604	HP:0000400	Macrotia
ORPHA:1340	MAP2K1	5604	HP:0000982	Palmoplantar keratoderma
ORPHA:1340	MAP2K1	5604	HP:0004422	Biparietal narrowing
ORPHA:1340	MAP2K1	5604	HP:0008070	Sparse hair
ORPHA:1340	MAP2K1	5604	HP:0003196	Short nose
ORPHA:1340	MAP2K1	5604	HP:0001263	Global developmental delay
ORPHA:1340	MAP2K1	5604	HP:0000286	Epicanthus
ORPHA:1340	MAP2K1	5604	HP:0200102	Sparse or absent eyelashes
ORPHA:1340	MAP2K1	5604	HP:0001252	Muscular hypotonia
ORPHA:1340	MAP2K1	5604	HP:0008872	Feeding difficulties in infancy
ORPHA:1340	MAP2K1	5604	HP:0000028	Cryptorchidism
ORPHA:1340	MAP2K1	5604	HP:0000974	Hyperextensible skin
ORPHA:1340	MAP2K1	5604	HP:0008391	Dystrophic fingernails
ORPHA:1340	MAP2K1	5604	HP:0000545	Myopia
ORPHA:1340	MAP2K1	5604	HP:0006191	Deep palmar crease
ORPHA:1340	MAP2K1	5604	HP:0000470	Short neck
ORPHA:1340	MAP2K1	5604	HP:0002299	Brittle hair
ORPHA:1340	MAP2K1	5604	HP:0002007	Frontal bossing
ORPHA:1340	MAP2K1	5604	HP:0000639	Nystagmus
ORPHA:1340	MAP2K1	5604	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1340	MAP2K1	5604	HP:0000767	Pectus excavatum
ORPHA:1340	MAP2K1	5604	HP:0005280	Depressed nasal bridge
ORPHA:1340	MAP2K1	5604	HP:0001622	Premature birth
ORPHA:1340	MAP2K1	5604	HP:0001003	Multiple lentigines
ORPHA:1340	MAP2K1	5604	HP:0002217	Slow-growing hair
ORPHA:1340	MAP2K1	5604	HP:0000218	High palate
ORPHA:1340	MAP2K1	5604	HP:0002997	Abnormality of the ulna
ORPHA:1340	MAP2K1	5604	HP:0004322	Short stature
ORPHA:1340	MAP2K1	5604	HP:0002162	Low posterior hairline
ORPHA:1340	MAP2K1	5604	HP:0000391	Thickened helices
ORPHA:1340	MAP2K1	5604	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1340	MAP2K1	5604	HP:0007440	Generalized hyperpigmentation
ORPHA:1340	MAP2K1	5604	HP:0000280	Coarse facial features
ORPHA:1340	MAP2K1	5604	HP:0007392	Excessive wrinkled skin
ORPHA:1340	MAP2K1	5604	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1340	MAP2K1	5604	HP:0001249	Intellectual disability
ORPHA:1340	MAP2K1	5604	HP:0002213	Fine hair
ORPHA:1340	MAP2K1	5604	HP:0000343	Long philtrum
ORPHA:1340	KRAS	3845	HP:0000508	Ptosis
ORPHA:1340	KRAS	3845	HP:0002650	Scoliosis
ORPHA:1340	KRAS	3845	HP:0000465	Webbed neck
ORPHA:1340	KRAS	3845	HP:0000256	Macrocephaly
ORPHA:1340	KRAS	3845	HP:0008064	Ichthyosis
ORPHA:1340	KRAS	3845	HP:0000463	Anteverted nares
ORPHA:1340	KRAS	3845	HP:0000637	Long palpebral fissure
ORPHA:1340	KRAS	3845	HP:0000276	Long face
ORPHA:1340	KRAS	3845	HP:0000293	Full cheeks
ORPHA:1340	KRAS	3845	HP:0001048	Cavernous hemangioma
ORPHA:1340	KRAS	3845	HP:0001642	Pulmonic stenosis
ORPHA:1340	KRAS	3845	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1340	KRAS	3845	HP:0000494	Downslanted palpebral fissures
ORPHA:1340	KRAS	3845	HP:0000958	Dry skin
ORPHA:1340	KRAS	3845	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:1340	KRAS	3845	HP:0000316	Hypertelorism
ORPHA:1340	KRAS	3845	HP:0000486	Strabismus
ORPHA:1340	KRAS	3845	HP:0000504	Abnormality of vision
ORPHA:1340	KRAS	3845	HP:0001631	Atrial septal defect
ORPHA:1340	KRAS	3845	HP:0001531	Failure to thrive in infancy
ORPHA:1340	KRAS	3845	HP:0000348	High forehead
ORPHA:1340	KRAS	3845	HP:0002353	EEG abnormality
ORPHA:1340	KRAS	3845	HP:0000400	Macrotia
ORPHA:1340	KRAS	3845	HP:0000982	Palmoplantar keratoderma
ORPHA:1340	KRAS	3845	HP:0004422	Biparietal narrowing
ORPHA:1340	KRAS	3845	HP:0008070	Sparse hair
ORPHA:1340	KRAS	3845	HP:0003196	Short nose
ORPHA:1340	KRAS	3845	HP:0001263	Global developmental delay
ORPHA:1340	KRAS	3845	HP:0000286	Epicanthus
ORPHA:1340	KRAS	3845	HP:0200102	Sparse or absent eyelashes
ORPHA:1340	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHA:1340	KRAS	3845	HP:0008872	Feeding difficulties in infancy
ORPHA:1340	KRAS	3845	HP:0000028	Cryptorchidism
ORPHA:1340	KRAS	3845	HP:0000974	Hyperextensible skin
ORPHA:1340	KRAS	3845	HP:0008391	Dystrophic fingernails
ORPHA:1340	KRAS	3845	HP:0000545	Myopia
ORPHA:1340	KRAS	3845	HP:0006191	Deep palmar crease
ORPHA:1340	KRAS	3845	HP:0000470	Short neck
ORPHA:1340	KRAS	3845	HP:0002299	Brittle hair
ORPHA:1340	KRAS	3845	HP:0002007	Frontal bossing
ORPHA:1340	KRAS	3845	HP:0000639	Nystagmus
ORPHA:1340	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1340	KRAS	3845	HP:0000767	Pectus excavatum
ORPHA:1340	KRAS	3845	HP:0005280	Depressed nasal bridge
ORPHA:1340	KRAS	3845	HP:0001622	Premature birth
ORPHA:1340	KRAS	3845	HP:0001003	Multiple lentigines
ORPHA:1340	KRAS	3845	HP:0002217	Slow-growing hair
ORPHA:1340	KRAS	3845	HP:0000218	High palate
ORPHA:1340	KRAS	3845	HP:0002997	Abnormality of the ulna
ORPHA:1340	KRAS	3845	HP:0004322	Short stature
ORPHA:1340	KRAS	3845	HP:0002162	Low posterior hairline
ORPHA:1340	KRAS	3845	HP:0000391	Thickened helices
ORPHA:1340	KRAS	3845	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1340	KRAS	3845	HP:0007440	Generalized hyperpigmentation
ORPHA:1340	KRAS	3845	HP:0000280	Coarse facial features
ORPHA:1340	KRAS	3845	HP:0007392	Excessive wrinkled skin
ORPHA:1340	KRAS	3845	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1340	KRAS	3845	HP:0001249	Intellectual disability
ORPHA:1340	KRAS	3845	HP:0002213	Fine hair
ORPHA:1340	KRAS	3845	HP:0000343	Long philtrum
ORPHA:1340	MAP2K2	5605	HP:0000508	Ptosis
ORPHA:1340	MAP2K2	5605	HP:0002650	Scoliosis
ORPHA:1340	MAP2K2	5605	HP:0000465	Webbed neck
ORPHA:1340	MAP2K2	5605	HP:0000256	Macrocephaly
ORPHA:1340	MAP2K2	5605	HP:0008064	Ichthyosis
ORPHA:1340	MAP2K2	5605	HP:0000463	Anteverted nares
ORPHA:1340	MAP2K2	5605	HP:0000637	Long palpebral fissure
ORPHA:1340	MAP2K2	5605	HP:0000276	Long face
ORPHA:1340	MAP2K2	5605	HP:0000293	Full cheeks
ORPHA:1340	MAP2K2	5605	HP:0001048	Cavernous hemangioma
ORPHA:1340	MAP2K2	5605	HP:0001642	Pulmonic stenosis
ORPHA:1340	MAP2K2	5605	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1340	MAP2K2	5605	HP:0000494	Downslanted palpebral fissures
ORPHA:1340	MAP2K2	5605	HP:0000958	Dry skin
ORPHA:1340	MAP2K2	5605	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:1340	MAP2K2	5605	HP:0000316	Hypertelorism
ORPHA:1340	MAP2K2	5605	HP:0000486	Strabismus
ORPHA:1340	MAP2K2	5605	HP:0000504	Abnormality of vision
ORPHA:1340	MAP2K2	5605	HP:0001631	Atrial septal defect
ORPHA:1340	MAP2K2	5605	HP:0001531	Failure to thrive in infancy
ORPHA:1340	MAP2K2	5605	HP:0000348	High forehead
ORPHA:1340	MAP2K2	5605	HP:0002353	EEG abnormality
ORPHA:1340	MAP2K2	5605	HP:0000400	Macrotia
ORPHA:1340	MAP2K2	5605	HP:0000982	Palmoplantar keratoderma
ORPHA:1340	MAP2K2	5605	HP:0004422	Biparietal narrowing
ORPHA:1340	MAP2K2	5605	HP:0008070	Sparse hair
ORPHA:1340	MAP2K2	5605	HP:0003196	Short nose
ORPHA:1340	MAP2K2	5605	HP:0001263	Global developmental delay
ORPHA:1340	MAP2K2	5605	HP:0000286	Epicanthus
ORPHA:1340	MAP2K2	5605	HP:0200102	Sparse or absent eyelashes
ORPHA:1340	MAP2K2	5605	HP:0001252	Muscular hypotonia
ORPHA:1340	MAP2K2	5605	HP:0008872	Feeding difficulties in infancy
ORPHA:1340	MAP2K2	5605	HP:0000028	Cryptorchidism
ORPHA:1340	MAP2K2	5605	HP:0000974	Hyperextensible skin
ORPHA:1340	MAP2K2	5605	HP:0008391	Dystrophic fingernails
ORPHA:1340	MAP2K2	5605	HP:0000545	Myopia
ORPHA:1340	MAP2K2	5605	HP:0006191	Deep palmar crease
ORPHA:1340	MAP2K2	5605	HP:0000470	Short neck
ORPHA:1340	MAP2K2	5605	HP:0002299	Brittle hair
ORPHA:1340	MAP2K2	5605	HP:0002007	Frontal bossing
ORPHA:1340	MAP2K2	5605	HP:0000639	Nystagmus
ORPHA:1340	MAP2K2	5605	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1340	MAP2K2	5605	HP:0000767	Pectus excavatum
ORPHA:1340	MAP2K2	5605	HP:0005280	Depressed nasal bridge
ORPHA:1340	MAP2K2	5605	HP:0001622	Premature birth
ORPHA:1340	MAP2K2	5605	HP:0001003	Multiple lentigines
ORPHA:1340	MAP2K2	5605	HP:0002217	Slow-growing hair
ORPHA:1340	MAP2K2	5605	HP:0000218	High palate
ORPHA:1340	MAP2K2	5605	HP:0002997	Abnormality of the ulna
ORPHA:1340	MAP2K2	5605	HP:0004322	Short stature
ORPHA:1340	MAP2K2	5605	HP:0002162	Low posterior hairline
ORPHA:1340	MAP2K2	5605	HP:0000391	Thickened helices
ORPHA:1340	MAP2K2	5605	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1340	MAP2K2	5605	HP:0007440	Generalized hyperpigmentation
ORPHA:1340	MAP2K2	5605	HP:0000280	Coarse facial features
ORPHA:1340	MAP2K2	5605	HP:0007392	Excessive wrinkled skin
ORPHA:1340	MAP2K2	5605	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1340	MAP2K2	5605	HP:0001249	Intellectual disability
ORPHA:1340	MAP2K2	5605	HP:0002213	Fine hair
ORPHA:1340	MAP2K2	5605	HP:0000343	Long philtrum
OMIM:607654	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:607654	KRT1	3848	HP:0000982	Palmoplantar keratoderma
OMIM:272200	SUMF1	285362	HP:0011096	Peripheral demyelination
OMIM:272200	SUMF1	285362	HP:0002518	Abnormality of the periventricular white matter
OMIM:272200	SUMF1	285362	HP:0004322	Short stature
OMIM:272200	SUMF1	285362	HP:0008155	Mucopolysacchariduria
OMIM:272200	SUMF1	285362	HP:0007957	Corneal opacity
OMIM:272200	SUMF1	285362	HP:0001319	Neonatal hypotonia
OMIM:272200	SUMF1	285362	HP:0002119	Ventriculomegaly
OMIM:272200	SUMF1	285362	HP:0008064	Ichthyosis
OMIM:272200	SUMF1	285362	HP:0001263	Global developmental delay
OMIM:272200	SUMF1	285362	HP:0000280	Coarse facial features
OMIM:272200	SUMF1	285362	HP:0000365	Hearing impairment
OMIM:272200	SUMF1	285362	HP:0001272	Cerebellar atrophy
OMIM:272200	SUMF1	285362	HP:0002922	Increased CSF protein
OMIM:272200	SUMF1	285362	HP:0012368	Flat face
OMIM:272200	SUMF1	285362	HP:0002059	Cerebral atrophy
OMIM:272200	SUMF1	285362	HP:0000007	Autosomal recessive inheritance
OMIM:272200	SUMF1	285362	HP:0100539	Periorbital edema
OMIM:272200	SUMF1	285362	HP:0007307	Rapid neurologic deterioration
OMIM:272200	SUMF1	285362	HP:0000546	Retinal degeneration
OMIM:272200	SUMF1	285362	HP:0002240	Hepatomegaly
OMIM:272200	SUMF1	285362	HP:0000943	Dysostosis multiplex
OMIM:272200	SUMF1	285362	HP:0001249	Intellectual disability
OMIM:272200	SUMF1	285362	HP:0002003	Large forehead
OMIM:272200	SUMF1	285362	HP:0010055	Broad hallux
OMIM:272200	SUMF1	285362	HP:0001744	Splenomegaly
OMIM:272200	SUMF1	285362	HP:0001251	Ataxia
OMIM:272200	SUMF1	285362	HP:0001257	Spasticity
OMIM:272200	SUMF1	285362	HP:0000463	Anteverted nares
OMIM:272200	SUMF1	285362	HP:0000238	Hydrocephalus
OMIM:272200	SUMF1	285362	HP:0011304	Broad thumb
OMIM:272200	SUMF1	285362	HP:0007305	CNS demyelination
OMIM:272200	SUMF1	285362	HP:0011220	Prominent forehead
OMIM:272200	SUMF1	285362	HP:0002395	Lower limb hyperreflexia
OMIM:272200	SUMF1	285362	HP:0008479	Hypoplastic vertebral bodies
OMIM:605589	MED25	81857	HP:0001265	Hyporeflexia
OMIM:605589	MED25	81857	HP:0002936	Distal sensory impairment
OMIM:605589	MED25	81857	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605589	MED25	81857	HP:0003693	Distal amyotrophy
OMIM:605589	MED25	81857	HP:0003581	Adult onset
OMIM:605589	MED25	81857	HP:0002460	Distal muscle weakness
OMIM:605589	MED25	81857	HP:0000007	Autosomal recessive inheritance
OMIM:605589	MED25	81857	HP:0001284	Areflexia
OMIM:255310	MYH7	4625	HP:0011968	Feeding difficulties
OMIM:255310	MYH7	4625	HP:0001508	Failure to thrive
OMIM:255310	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:255310	MYH7	4625	HP:0003577	Congenital onset
OMIM:255310	MYH7	4625	HP:0010628	Facial palsy
OMIM:255310	MYH7	4625	HP:0001558	Decreased fetal movement
OMIM:255310	MYH7	4625	HP:0001283	Bulbar palsy
OMIM:255310	MYH7	4625	HP:0002093	Respiratory insufficiency
OMIM:255310	MYH7	4625	HP:0003701	Proximal muscle weakness
OMIM:255310	MYH7	4625	HP:0001425	Heterogeneous
OMIM:255310	MYH7	4625	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:255310	MYH7	4625	HP:0003828	Variable expressivity
OMIM:255310	MYH7	4625	HP:0000275	Narrow face
OMIM:255310	MYH7	4625	HP:0000508	Ptosis
OMIM:255310	MYH7	4625	HP:0001612	Weak cry
OMIM:255310	MYH7	4625	HP:0002938	Lumbar hyperlordosis
OMIM:255310	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:255310	MYH7	4625	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	MYH7	4625	HP:0000218	High palate
OMIM:255310	MYH7	4625	HP:0002015	Dysphagia
OMIM:255310	MYH7	4625	HP:0003324	Generalized muscle weakness
OMIM:255310	MYH7	4625	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	MYH7	4625	HP:0000276	Long face
OMIM:255310	MYH7	4625	HP:0001319	Neonatal hypotonia
OMIM:255310	TPM2	7169	HP:0011968	Feeding difficulties
OMIM:255310	TPM2	7169	HP:0001508	Failure to thrive
OMIM:255310	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:255310	TPM2	7169	HP:0003577	Congenital onset
OMIM:255310	TPM2	7169	HP:0010628	Facial palsy
OMIM:255310	TPM2	7169	HP:0001558	Decreased fetal movement
OMIM:255310	TPM2	7169	HP:0001283	Bulbar palsy
OMIM:255310	TPM2	7169	HP:0002093	Respiratory insufficiency
OMIM:255310	TPM2	7169	HP:0003701	Proximal muscle weakness
OMIM:255310	TPM2	7169	HP:0001425	Heterogeneous
OMIM:255310	TPM2	7169	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	TPM2	7169	HP:0000007	Autosomal recessive inheritance
OMIM:255310	TPM2	7169	HP:0003828	Variable expressivity
OMIM:255310	TPM2	7169	HP:0000275	Narrow face
OMIM:255310	TPM2	7169	HP:0000508	Ptosis
OMIM:255310	TPM2	7169	HP:0001612	Weak cry
OMIM:255310	TPM2	7169	HP:0002938	Lumbar hyperlordosis
OMIM:255310	TPM2	7169	HP:0001644	Dilated cardiomyopathy
OMIM:255310	TPM2	7169	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	TPM2	7169	HP:0000218	High palate
OMIM:255310	TPM2	7169	HP:0002015	Dysphagia
OMIM:255310	TPM2	7169	HP:0003324	Generalized muscle weakness
OMIM:255310	TPM2	7169	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	TPM2	7169	HP:0000276	Long face
OMIM:255310	TPM2	7169	HP:0001319	Neonatal hypotonia
OMIM:255310	TPM3	7170	HP:0011968	Feeding difficulties
OMIM:255310	TPM3	7170	HP:0001508	Failure to thrive
OMIM:255310	TPM3	7170	HP:0000006	Autosomal dominant inheritance
OMIM:255310	TPM3	7170	HP:0003577	Congenital onset
OMIM:255310	TPM3	7170	HP:0010628	Facial palsy
OMIM:255310	TPM3	7170	HP:0001558	Decreased fetal movement
OMIM:255310	TPM3	7170	HP:0001283	Bulbar palsy
OMIM:255310	TPM3	7170	HP:0002093	Respiratory insufficiency
OMIM:255310	TPM3	7170	HP:0003701	Proximal muscle weakness
OMIM:255310	TPM3	7170	HP:0001425	Heterogeneous
OMIM:255310	TPM3	7170	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	TPM3	7170	HP:0000007	Autosomal recessive inheritance
OMIM:255310	TPM3	7170	HP:0003828	Variable expressivity
OMIM:255310	TPM3	7170	HP:0000275	Narrow face
OMIM:255310	TPM3	7170	HP:0000508	Ptosis
OMIM:255310	TPM3	7170	HP:0001612	Weak cry
OMIM:255310	TPM3	7170	HP:0002938	Lumbar hyperlordosis
OMIM:255310	TPM3	7170	HP:0001644	Dilated cardiomyopathy
OMIM:255310	TPM3	7170	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	TPM3	7170	HP:0000218	High palate
OMIM:255310	TPM3	7170	HP:0002015	Dysphagia
OMIM:255310	TPM3	7170	HP:0003324	Generalized muscle weakness
OMIM:255310	TPM3	7170	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	TPM3	7170	HP:0000276	Long face
OMIM:255310	TPM3	7170	HP:0001319	Neonatal hypotonia
OMIM:255310	RYR1	6261	HP:0011968	Feeding difficulties
OMIM:255310	RYR1	6261	HP:0001508	Failure to thrive
OMIM:255310	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:255310	RYR1	6261	HP:0003577	Congenital onset
OMIM:255310	RYR1	6261	HP:0010628	Facial palsy
OMIM:255310	RYR1	6261	HP:0001558	Decreased fetal movement
OMIM:255310	RYR1	6261	HP:0001283	Bulbar palsy
OMIM:255310	RYR1	6261	HP:0002093	Respiratory insufficiency
OMIM:255310	RYR1	6261	HP:0003701	Proximal muscle weakness
OMIM:255310	RYR1	6261	HP:0001425	Heterogeneous
OMIM:255310	RYR1	6261	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	RYR1	6261	HP:0000007	Autosomal recessive inheritance
OMIM:255310	RYR1	6261	HP:0003828	Variable expressivity
OMIM:255310	RYR1	6261	HP:0000275	Narrow face
OMIM:255310	RYR1	6261	HP:0000508	Ptosis
OMIM:255310	RYR1	6261	HP:0001612	Weak cry
OMIM:255310	RYR1	6261	HP:0002938	Lumbar hyperlordosis
OMIM:255310	RYR1	6261	HP:0001644	Dilated cardiomyopathy
OMIM:255310	RYR1	6261	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	RYR1	6261	HP:0000218	High palate
OMIM:255310	RYR1	6261	HP:0002015	Dysphagia
OMIM:255310	RYR1	6261	HP:0003324	Generalized muscle weakness
OMIM:255310	RYR1	6261	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	RYR1	6261	HP:0000276	Long face
OMIM:255310	RYR1	6261	HP:0001319	Neonatal hypotonia
OMIM:255310	SELENON	57190	HP:0011968	Feeding difficulties
OMIM:255310	SELENON	57190	HP:0001508	Failure to thrive
OMIM:255310	SELENON	57190	HP:0000006	Autosomal dominant inheritance
OMIM:255310	SELENON	57190	HP:0003577	Congenital onset
OMIM:255310	SELENON	57190	HP:0010628	Facial palsy
OMIM:255310	SELENON	57190	HP:0001558	Decreased fetal movement
OMIM:255310	SELENON	57190	HP:0001283	Bulbar palsy
OMIM:255310	SELENON	57190	HP:0002093	Respiratory insufficiency
OMIM:255310	SELENON	57190	HP:0003701	Proximal muscle weakness
OMIM:255310	SELENON	57190	HP:0001425	Heterogeneous
OMIM:255310	SELENON	57190	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	SELENON	57190	HP:0000007	Autosomal recessive inheritance
OMIM:255310	SELENON	57190	HP:0003828	Variable expressivity
OMIM:255310	SELENON	57190	HP:0000275	Narrow face
OMIM:255310	SELENON	57190	HP:0000508	Ptosis
OMIM:255310	SELENON	57190	HP:0001612	Weak cry
OMIM:255310	SELENON	57190	HP:0002938	Lumbar hyperlordosis
OMIM:255310	SELENON	57190	HP:0001644	Dilated cardiomyopathy
OMIM:255310	SELENON	57190	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	SELENON	57190	HP:0000218	High palate
OMIM:255310	SELENON	57190	HP:0002015	Dysphagia
OMIM:255310	SELENON	57190	HP:0003324	Generalized muscle weakness
OMIM:255310	SELENON	57190	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	SELENON	57190	HP:0000276	Long face
OMIM:255310	SELENON	57190	HP:0001319	Neonatal hypotonia
OMIM:255310	ACTA1	58	HP:0011968	Feeding difficulties
OMIM:255310	ACTA1	58	HP:0001508	Failure to thrive
OMIM:255310	ACTA1	58	HP:0000006	Autosomal dominant inheritance
OMIM:255310	ACTA1	58	HP:0003577	Congenital onset
OMIM:255310	ACTA1	58	HP:0010628	Facial palsy
OMIM:255310	ACTA1	58	HP:0001558	Decreased fetal movement
OMIM:255310	ACTA1	58	HP:0001283	Bulbar palsy
OMIM:255310	ACTA1	58	HP:0002093	Respiratory insufficiency
OMIM:255310	ACTA1	58	HP:0003701	Proximal muscle weakness
OMIM:255310	ACTA1	58	HP:0001425	Heterogeneous
OMIM:255310	ACTA1	58	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	ACTA1	58	HP:0000007	Autosomal recessive inheritance
OMIM:255310	ACTA1	58	HP:0003828	Variable expressivity
OMIM:255310	ACTA1	58	HP:0000275	Narrow face
OMIM:255310	ACTA1	58	HP:0000508	Ptosis
OMIM:255310	ACTA1	58	HP:0001612	Weak cry
OMIM:255310	ACTA1	58	HP:0002938	Lumbar hyperlordosis
OMIM:255310	ACTA1	58	HP:0001644	Dilated cardiomyopathy
OMIM:255310	ACTA1	58	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
OMIM:255310	ACTA1	58	HP:0000218	High palate
OMIM:255310	ACTA1	58	HP:0002015	Dysphagia
OMIM:255310	ACTA1	58	HP:0003324	Generalized muscle weakness
OMIM:255310	ACTA1	58	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	ACTA1	58	HP:0000276	Long face
OMIM:255310	ACTA1	58	HP:0001319	Neonatal hypotonia
ORPHA:31709	PRRT2	112476	HP:0002076	Migraine
ORPHA:31709	PRRT2	112476	HP:0002197	Generalized seizures
ORPHA:31709	PRRT2	112476	HP:0007166	Paroxysmal dyskinesia
ORPHA:31709	PRRT2	112476	HP:0002372	Normal interictal EEG
ORPHA:31709	PRRT2	112476	HP:0007359	Focal seizures
ORPHA:31709	PRRT2	112476	HP:0001251	Ataxia
ORPHA:31709	PRRT2	112476	HP:0007098	Paroxysmal choreoathetosis
ORPHA:31709	SCN8A	6334	HP:0002076	Migraine
ORPHA:31709	SCN8A	6334	HP:0002197	Generalized seizures
ORPHA:31709	SCN8A	6334	HP:0007166	Paroxysmal dyskinesia
ORPHA:31709	SCN8A	6334	HP:0002372	Normal interictal EEG
ORPHA:31709	SCN8A	6334	HP:0007359	Focal seizures
ORPHA:31709	SCN8A	6334	HP:0001251	Ataxia
ORPHA:31709	SCN8A	6334	HP:0007098	Paroxysmal choreoathetosis
OMIM:251100	MMAA	166785	HP:0001876	Pancytopenia
OMIM:251100	MMAA	166785	HP:0001337	Tremor
OMIM:251100	MMAA	166785	HP:0001508	Failure to thrive
OMIM:251100	MMAA	166785	HP:0001944	Dehydration
OMIM:251100	MMAA	166785	HP:0001254	Lethargy
OMIM:251100	MMAA	166785	HP:0002098	Respiratory distress
OMIM:251100	MMAA	166785	HP:0002912	Methylmalonic acidemia
OMIM:251100	MMAA	166785	HP:0001946	Ketosis
OMIM:251100	MMAA	166785	HP:0002919	Ketonuria
OMIM:251100	MMAA	166785	HP:0001290	Generalized hypotonia
OMIM:251100	MMAA	166785	HP:0002154	Hyperglycinemia
OMIM:251100	MMAA	166785	HP:0003210	Decreased methylmalonyl-CoA mutase activity
OMIM:251100	MMAA	166785	HP:0001259	Coma
OMIM:251100	MMAA	166785	HP:0001250	Seizures
OMIM:251100	MMAA	166785	HP:0002013	Vomiting
OMIM:251100	MMAA	166785	HP:0008872	Feeding difficulties in infancy
OMIM:251100	MMAA	166785	HP:0012120	Methylmalonic aciduria
OMIM:251100	MMAA	166785	HP:0001987	Hyperammonemia
OMIM:251100	MMAA	166785	HP:0003145	Decreased adenosylcobalamin
OMIM:251100	MMAA	166785	HP:0001942	Metabolic acidosis
OMIM:251100	MMAA	166785	HP:0001903	Anemia
OMIM:251100	MMAA	166785	HP:0002240	Hepatomegaly
OMIM:251100	MMAA	166785	HP:0001873	Thrombocytopenia
OMIM:251100	MMAA	166785	HP:0001875	Neutropenia
OMIM:251100	MMAA	166785	HP:0003593	Infantile onset
OMIM:251100	MMAA	166785	HP:0000007	Autosomal recessive inheritance
OMIM:251100	MMAA	166785	HP:0001263	Global developmental delay
OMIM:611228	FIG4	9896	HP:0001265	Hyporeflexia
OMIM:611228	FIG4	9896	HP:0007182	Peripheral hypomyelination
OMIM:611228	FIG4	9896	HP:0001288	Gait disturbance
OMIM:611228	FIG4	9896	HP:0003676	Progressive
OMIM:611228	FIG4	9896	HP:0006466	Ankle contracture
OMIM:611228	FIG4	9896	HP:0003447	Axonal loss
OMIM:611228	FIG4	9896	HP:0005684	Distal arthrogryposis
OMIM:611228	FIG4	9896	HP:0003431	Decreased motor nerve conduction velocity
OMIM:611228	FIG4	9896	HP:0001284	Areflexia
OMIM:611228	FIG4	9896	HP:0003383	Onion bulb formation
OMIM:611228	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:611228	FIG4	9896	HP:0003828	Variable expressivity
OMIM:611228	FIG4	9896	HP:0000762	Decreased nerve conduction velocity
OMIM:611228	FIG4	9896	HP:0002936	Distal sensory impairment
OMIM:611228	FIG4	9896	HP:0002359	Frequent falls
OMIM:611228	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:614298	C19ORF12	83636	HP:0002180	Neurodegeneration
OMIM:614298	C19ORF12	83636	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614298	C19ORF12	83636	HP:0003812	Phenotypic variability
OMIM:614298	C19ORF12	83636	HP:0000712	Emotional lability
OMIM:614298	C19ORF12	83636	HP:0003487	Babinski sign
OMIM:614298	C19ORF12	83636	HP:0003676	Progressive
OMIM:614298	C19ORF12	83636	HP:0001260	Dysarthria
OMIM:614298	C19ORF12	83636	HP:0001265	Hyporeflexia
OMIM:614298	C19ORF12	83636	HP:0001288	Gait disturbance
OMIM:614298	C19ORF12	83636	HP:0001761	Pes cavus
OMIM:614298	C19ORF12	83636	HP:0000007	Autosomal recessive inheritance
OMIM:614298	C19ORF12	83636	HP:0012048	Oromandibular dystonia
OMIM:614298	C19ORF12	83636	HP:0001337	Tremor
OMIM:614298	C19ORF12	83636	HP:0001347	Hyperreflexia
OMIM:614298	C19ORF12	83636	HP:0003691	Scapular winging
OMIM:614298	C19ORF12	83636	HP:0003693	Distal amyotrophy
OMIM:614298	C19ORF12	83636	HP:0001251	Ataxia
OMIM:614298	C19ORF12	83636	HP:0000750	Delayed speech and language development
OMIM:614298	C19ORF12	83636	HP:0001300	Parkinsonism
OMIM:614298	C19ORF12	83636	HP:0000716	Depressivity
OMIM:614298	C19ORF12	83636	HP:0000726	Dementia
OMIM:614298	C19ORF12	83636	HP:0100710	Impulsivity
OMIM:614298	C19ORF12	83636	HP:0001257	Spasticity
OMIM:614298	C19ORF12	83636	HP:0100315	Lewy bodies
OMIM:614298	C19ORF12	83636	HP:0000529	Progressive visual loss
OMIM:614298	C19ORF12	83636	HP:0000648	Optic atrophy
OMIM:614298	C19ORF12	83636	HP:0002460	Distal muscle weakness
OMIM:614298	C19ORF12	83636	HP:0003236	Elevated serum creatine phosphokinase
OMIM:602081	FOXP2	93986	HP:0000006	Autosomal dominant inheritance
OMIM:602081	FOXP2	93986	HP:0002134	Abnormality of the basal ganglia
OMIM:602081	FOXP2	93986	HP:0000271	Abnormality of the face
OMIM:602081	FOXP2	93986	HP:0002546	Incomprehensible speech
OMIM:602081	FOXP2	93986	HP:0000750	Delayed speech and language development
OMIM:602081	FOXP2	93986	HP:0007301	Oromotor apraxia
OMIM:603383	ASB10	136371	HP:0007854	Glaucomatous visual field defect
OMIM:603383	ASB10	136371	HP:0012108	Open angle glaucoma
OMIM:603383	ASB10	136371	HP:0000006	Autosomal dominant inheritance
OMIM:603383	ASB10	136371	HP:0007906	Increased intraocular pressure
OMIM:603383	ASB10	136371	HP:0012796	Increased cup-to-disc ratio
OMIM:188570	THRB	7068	HP:0011788	Increased serum free triiodothyronine
OMIM:188570	THRB	7068	HP:0000006	Autosomal dominant inheritance
OMIM:188570	THRB	7068	HP:0002930	Thyroid hormone receptor defect
OMIM:188570	THRB	7068	HP:0000750	Delayed speech and language development
OMIM:188570	THRB	7068	HP:0000853	Goiter
OMIM:188570	THRB	7068	HP:0007018	Attention deficit hyperactivity disorder
OMIM:609162	COL2A1	1280	HP:0001831	Short toe
OMIM:609162	COL2A1	1280	HP:0008819	Narrow femoral neck
OMIM:609162	COL2A1	1280	HP:0002868	Narrow iliac wings
OMIM:609162	COL2A1	1280	HP:0002945	Intervertebral space narrowing
OMIM:609162	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:609162	COL2A1	1280	HP:0001371	Flexion contracture
OMIM:609162	COL2A1	1280	HP:0010743	Short metatarsal
OMIM:609162	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:609162	COL2A1	1280	HP:0002650	Scoliosis
OMIM:609162	COL2A1	1280	HP:0002942	Thoracic kyphosis
OMIM:609162	COL2A1	1280	HP:0003370	Flat capital femoral epiphysis
OMIM:609162	COL2A1	1280	HP:0100864	Short femoral neck
OMIM:609162	COL2A1	1280	HP:0002515	Waddling gait
OMIM:609162	COL2A1	1280	HP:0002812	Coxa vara
OMIM:609162	COL2A1	1280	HP:0001507	Growth abnormality
OMIM:609162	COL2A1	1280	HP:0002829	Arthralgia
OMIM:609162	COL2A1	1280	HP:0003301	Irregular vertebral endplates
OMIM:609162	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
ORPHA:93947	PQBP1	10084	HP:0000158	Macroglossia
ORPHA:93947	PQBP1	10084	HP:0000275	Narrow face
ORPHA:93947	PQBP1	10084	HP:0000286	Epicanthus
ORPHA:93947	PQBP1	10084	HP:0011359	Dry hair
ORPHA:93947	PQBP1	10084	HP:0000252	Microcephaly
ORPHA:93947	PQBP1	10084	HP:0001264	Spastic diplegia
ORPHA:93947	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
ORPHA:93947	PQBP1	10084	HP:0000378	Cupped ear
ORPHA:93947	PQBP1	10084	HP:0001249	Intellectual disability
ORPHA:93947	PQBP1	10084	HP:0002299	Brittle hair
ORPHA:93947	PQBP1	10084	HP:0004322	Short stature
ORPHA:93947	PQBP1	10084	HP:0000411	Protruding ear
ORPHA:93947	PQBP1	10084	HP:0000325	Triangular face
ORPHA:93947	PQBP1	10084	HP:0000276	Long face
ORPHA:93947	PQBP1	10084	HP:0008404	Nail dystrophy
ORPHA:93947	PQBP1	10084	HP:0001631	Atrial septal defect
OMIM:614038	GATA2	2624	HP:0100658	Cellulitis
OMIM:614038	GATA2	2624	HP:0000006	Autosomal dominant inheritance
OMIM:614038	GATA2	2624	HP:0002863	Myelodysplasia
OMIM:614038	GATA2	2624	HP:0001876	Pancytopenia
OMIM:614038	GATA2	2624	HP:0001004	Lymphedema
ORPHA:2833	FBN1	2200	HP:0100679	Lack of skin elasticity
ORPHA:2833	FBN1	2200	HP:0001072	Thickened skin
ORPHA:2833	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:608161	PRPH2	5961	HP:0007677	Vitelliform-like macular lesions
OMIM:608161	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:608161	PRPH2	5961	HP:0000505	Visual impairment
OMIM:608161	PRPH2	5961	HP:0000613	Photophobia
OMIM:608161	PRPH2	5961	HP:0007754	Macular dystrophy
OMIM:608161	PRPH2	5961	HP:0012508	Metamorphopsia
OMIM:608161	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:608161	PRPH2	5961	HP:0007663	Reduced visual acuity
ORPHA:2573	RNF213	57674	HP:0002119	Ventriculomegaly
ORPHA:2573	RNF213	57674	HP:0001009	Telangiectasia
ORPHA:2573	RNF213	57674	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:2573	RNF213	57674	HP:0001249	Intellectual disability
ORPHA:2573	RNF213	57674	HP:0001250	Seizures
ORPHA:2573	ACTA2	59	HP:0002119	Ventriculomegaly
ORPHA:2573	ACTA2	59	HP:0001009	Telangiectasia
ORPHA:2573	ACTA2	59	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:2573	ACTA2	59	HP:0001249	Intellectual disability
ORPHA:2573	ACTA2	59	HP:0001250	Seizures
ORPHA:220	WT1	7490	HP:0000093	Proteinuria
ORPHA:220	WT1	7490	HP:0002667	Nephroblastoma
ORPHA:220	WT1	7490	HP:0000037	Male pseudohermaphroditism
ORPHA:220	WT1	7490	HP:0000100	Nephrotic syndrome
ORPHA:220	WT1	7490	HP:0000112	Nephropathy
ORPHA:220	WT1	7490	HP:0000822	Hypertension
OMIM:300555	OCRL	4952	HP:0004322	Short stature
OMIM:300555	OCRL	4952	HP:0011463	Childhood onset
OMIM:300555	OCRL	4952	HP:0001263	Global developmental delay
OMIM:300555	OCRL	4952	HP:0001419	X-linked recessive inheritance
OMIM:300555	OCRL	4952	HP:0000114	Proximal tubulopathy
OMIM:300555	OCRL	4952	HP:0100543	Cognitive impairment
OMIM:300555	OCRL	4952	HP:0002150	Hypercalciuria
OMIM:300555	OCRL	4952	HP:0003126	Low-molecular-weight proteinuria
OMIM:300555	OCRL	4952	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300555	OCRL	4952	HP:0003355	Aminoaciduria
OMIM:300555	OCRL	4952	HP:0012622	Chronic kidney disease
ORPHA:263463	CHST3	9469	HP:0000337	Broad forehead
ORPHA:263463	CHST3	9469	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:263463	CHST3	9469	HP:0000316	Hypertelorism
ORPHA:263463	CHST3	9469	HP:0010049	Short metacarpal
ORPHA:263463	CHST3	9469	HP:0010582	Irregular epiphyses
ORPHA:263463	CHST3	9469	HP:0003521	Disproportionate short-trunk short stature
ORPHA:263463	CHST3	9469	HP:0008905	Rhizomelia
ORPHA:263463	CHST3	9469	HP:0001156	Brachydactyly
ORPHA:263463	CHST3	9469	HP:0010585	Small epiphyses
ORPHA:263463	CHST3	9469	HP:0002515	Waddling gait
ORPHA:263463	CHST3	9469	HP:0045075	Sparse eyebrow
ORPHA:263463	CHST3	9469	HP:0001552	Barrel-shaped chest
ORPHA:263463	CHST3	9469	HP:0003037	Enlarged joints
ORPHA:263463	CHST3	9469	HP:0000343	Long philtrum
ORPHA:263463	CHST3	9469	HP:0001270	Motor delay
ORPHA:263463	CHST3	9469	HP:0002857	Genu valgum
ORPHA:263463	CHST3	9469	HP:0001371	Flexion contracture
ORPHA:263463	CHST3	9469	HP:0002829	Arthralgia
ORPHA:263463	CHST3	9469	HP:0002945	Intervertebral space narrowing
ORPHA:263463	CHST3	9469	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:263463	CHST3	9469	HP:0002751	Kyphoscoliosis
ORPHA:263463	CHST3	9469	HP:0000684	Delayed eruption of teeth
ORPHA:263463	CHST3	9469	HP:0002553	Highly arched eyebrow
ORPHA:263463	CHST3	9469	HP:0002967	Cubitus valgus
ORPHA:158687	JUP	3728	HP:0001798	Anonychia
ORPHA:158687	JUP	3728	HP:0001596	Alopecia
ORPHA:158687	JUP	3728	HP:0200097	Oral mucosal blisters
ORPHA:158687	JUP	3728	HP:0200041	Skin erosion
ORPHA:158687	DSP	1832	HP:0001798	Anonychia
ORPHA:158687	DSP	1832	HP:0001596	Alopecia
ORPHA:158687	DSP	1832	HP:0200097	Oral mucosal blisters
ORPHA:158687	DSP	1832	HP:0200041	Skin erosion
ORPHA:634	SPINK5	11005	HP:0002213	Fine hair
ORPHA:634	SPINK5	11005	HP:0002097	Emphysema
ORPHA:634	SPINK5	11005	HP:0001250	Seizures
ORPHA:634	SPINK5	11005	HP:0001249	Intellectual disability
ORPHA:634	SPINK5	11005	HP:0003212	Increased IgE level
ORPHA:634	SPINK5	11005	HP:0000956	Acanthosis nigricans
ORPHA:634	SPINK5	11005	HP:0002209	Sparse scalp hair
ORPHA:634	SPINK5	11005	HP:0001025	Urticaria
ORPHA:634	SPINK5	11005	HP:0001263	Global developmental delay
ORPHA:634	SPINK5	11005	HP:0007400	Irregular hyperpigmentation
ORPHA:634	SPINK5	11005	HP:0002205	Recurrent respiratory infections
ORPHA:634	SPINK5	11005	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
ORPHA:634	SPINK5	11005	HP:0002024	Malabsorption
ORPHA:634	SPINK5	11005	HP:0009886	Trichorrhexis nodosa
ORPHA:634	SPINK5	11005	HP:0000964	Eczema
ORPHA:634	SPINK5	11005	HP:0004313	Decreased antibody level in blood
ORPHA:634	SPINK5	11005	HP:0002099	Asthma
OMIM:193100	FGF23	8074	HP:0002653	Bone pain
OMIM:193100	FGF23	8074	HP:0000117	Renal phosphate wasting
OMIM:193100	FGF23	8074	HP:0000164	Abnormality of the dentition
OMIM:193100	FGF23	8074	HP:0003324	Generalized muscle weakness
OMIM:193100	FGF23	8074	HP:0003829	Incomplete penetrance
OMIM:193100	FGF23	8074	HP:0004322	Short stature
OMIM:193100	FGF23	8074	HP:0002814	Abnormality of the lower limb
OMIM:193100	FGF23	8074	HP:0003155	Elevated alkaline phosphatase
OMIM:193100	FGF23	8074	HP:0004912	Hypophosphatemic rickets
OMIM:193100	FGF23	8074	HP:0002749	Osteomalacia
OMIM:193100	FGF23	8074	HP:0000006	Autosomal dominant inheritance
OMIM:607801	CAV3	859	HP:0003391	Gowers sign
OMIM:607801	CAV3	859	HP:0003394	Muscle cramps
OMIM:607801	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:607801	CAV3	859	HP:0003560	Muscular dystrophy
OMIM:607801	CAV3	859	HP:0001425	Heterogeneous
OMIM:607801	CAV3	859	HP:0003326	Myalgia
OMIM:607801	CAV3	859	HP:0008981	Calf muscle hypertrophy
OMIM:607801	CAV3	859	HP:0011463	Childhood onset
OMIM:607801	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607801	CAV3	859	HP:0000007	Autosomal recessive inheritance
OMIM:252930	HGSNAT	138050	HP:0100790	Hernia
OMIM:252930	HGSNAT	138050	HP:0002333	Motor deterioration
OMIM:252930	HGSNAT	138050	HP:0002159	Heparan sulfate excretion in urine
OMIM:252930	HGSNAT	138050	HP:0002371	Loss of speech
OMIM:252930	HGSNAT	138050	HP:0003653	Cellular metachromasia
OMIM:252930	HGSNAT	138050	HP:0000365	Hearing impairment
OMIM:252930	HGSNAT	138050	HP:0002240	Hepatomegaly
OMIM:252930	HGSNAT	138050	HP:0001249	Intellectual disability
OMIM:252930	HGSNAT	138050	HP:0000232	Everted lower lip vermilion
OMIM:252930	HGSNAT	138050	HP:0002360	Sleep disturbance
OMIM:252930	HGSNAT	138050	HP:0002014	Diarrhea
OMIM:252930	HGSNAT	138050	HP:0002208	Coarse hair
OMIM:252930	HGSNAT	138050	HP:0000268	Dolichocephaly
OMIM:252930	HGSNAT	138050	HP:0000664	Synophrys
OMIM:252930	HGSNAT	138050	HP:0000943	Dysostosis multiplex
OMIM:252930	HGSNAT	138050	HP:0001507	Growth abnormality
OMIM:252930	HGSNAT	138050	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252930	HGSNAT	138050	HP:0000280	Coarse facial features
OMIM:252930	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:252930	HGSNAT	138050	HP:0000752	Hyperactivity
OMIM:252930	HGSNAT	138050	HP:0001387	Joint stiffness
OMIM:252930	HGSNAT	138050	HP:0000900	Thickened ribs
OMIM:252930	HGSNAT	138050	HP:0001670	Asymmetric septal hypertrophy
OMIM:252930	HGSNAT	138050	HP:0001270	Motor delay
OMIM:252930	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:252930	HGSNAT	138050	HP:0002751	Kyphoscoliosis
OMIM:252930	HGSNAT	138050	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252930	HGSNAT	138050	HP:0001744	Splenomegaly
OMIM:252930	HGSNAT	138050	HP:0000250	Dense calvaria
OMIM:252930	HGSNAT	138050	HP:0002015	Dysphagia
OMIM:252930	HGSNAT	138050	HP:0003828	Variable expressivity
OMIM:252930	HGSNAT	138050	HP:0001007	Hirsutism
OMIM:252930	HGSNAT	138050	HP:0001250	Seizures
OMIM:614050	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:617308	ACOX2	8309	HP:0001310	Dysmetria
OMIM:617308	ACOX2	8309	HP:0003593	Infantile onset
OMIM:617308	ACOX2	8309	HP:0000511	Vertical supranuclear gaze palsy
OMIM:617308	ACOX2	8309	HP:0100512	Vitamin D deficiency
OMIM:617308	ACOX2	8309	HP:0000007	Autosomal recessive inheritance
OMIM:617308	ACOX2	8309	HP:0002570	Steatorrhea
OMIM:617308	ACOX2	8309	HP:0000750	Delayed speech and language development
OMIM:617308	ACOX2	8309	HP:0001350	Slurred speech
OMIM:617308	ACOX2	8309	HP:0001256	Intellectual disability, mild
OMIM:617308	ACOX2	8309	HP:0001263	Global developmental delay
OMIM:617308	ACOX2	8309	HP:0045014	Hypolipidemia
OMIM:108985	TEAD1	7003	HP:0000545	Myopia
OMIM:108985	TEAD1	7003	HP:0003677	Slow progression
OMIM:108985	TEAD1	7003	HP:0000483	Astigmatism
OMIM:108985	TEAD1	7003	HP:0000006	Autosomal dominant inheritance
OMIM:108985	TEAD1	7003	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:300590	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:300590	SMC1A	8243	HP:0002996	Limited elbow movement
OMIM:300590	SMC1A	8243	HP:0000319	Smooth philtrum
OMIM:300590	SMC1A	8243	HP:0002119	Ventriculomegaly
OMIM:300590	SMC1A	8243	HP:0001156	Brachydactyly
OMIM:300590	SMC1A	8243	HP:0000294	Low anterior hairline
OMIM:300590	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:300590	SMC1A	8243	HP:0100543	Cognitive impairment
OMIM:300590	SMC1A	8243	HP:0000341	Narrow forehead
OMIM:300590	SMC1A	8243	HP:0000218	High palate
OMIM:300590	SMC1A	8243	HP:0000248	Brachycephaly
OMIM:300590	SMC1A	8243	HP:0000664	Synophrys
OMIM:300590	SMC1A	8243	HP:0002714	Downturned corners of mouth
OMIM:300590	SMC1A	8243	HP:0000347	Micrognathia
OMIM:300590	SMC1A	8243	HP:0000463	Anteverted nares
OMIM:300590	SMC1A	8243	HP:0000574	Thick eyebrow
OMIM:300590	SMC1A	8243	HP:0200055	Small hand
OMIM:300590	SMC1A	8243	HP:0000252	Microcephaly
OMIM:300590	SMC1A	8243	HP:0000470	Short neck
OMIM:300590	SMC1A	8243	HP:0000494	Downslanted palpebral fissures
OMIM:300590	SMC1A	8243	HP:0001007	Hirsutism
OMIM:300590	SMC1A	8243	HP:0001263	Global developmental delay
OMIM:300590	SMC1A	8243	HP:0030084	Clinodactyly
OMIM:300590	SMC1A	8243	HP:0000219	Thin upper lip vermilion
OMIM:300590	SMC1A	8243	HP:0000426	Prominent nasal bridge
OMIM:300590	SMC1A	8243	HP:0001773	Short foot
OMIM:300590	SMC1A	8243	HP:0002465	Poor speech
OMIM:300590	SMC1A	8243	HP:0001511	Intrauterine growth retardation
OMIM:300590	SMC1A	8243	HP:0000965	Cutis marmorata
OMIM:300590	SMC1A	8243	HP:0009623	Proximal placement of thumb
OMIM:300590	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:300590	SMC1A	8243	HP:0000508	Ptosis
OMIM:300590	SMC1A	8243	HP:0001423	X-linked dominant inheritance
OMIM:300590	SMC1A	8243	HP:0001419	X-linked recessive inheritance
OMIM:300590	SMC1A	8243	HP:0004322	Short stature
OMIM:300590	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:616330	SNAP25	6616	HP:0001260	Dysarthria
OMIM:616330	SNAP25	6616	HP:0003577	Congenital onset
OMIM:616330	SNAP25	6616	HP:0001251	Ataxia
OMIM:616330	SNAP25	6616	HP:0002465	Poor speech
OMIM:616330	SNAP25	6616	HP:0002093	Respiratory insufficiency
OMIM:616330	SNAP25	6616	HP:0000006	Autosomal dominant inheritance
OMIM:616330	SNAP25	6616	HP:0001324	Muscle weakness
OMIM:616330	SNAP25	6616	HP:0001558	Decreased fetal movement
OMIM:616330	SNAP25	6616	HP:0003388	Easy fatigability
OMIM:616330	SNAP25	6616	HP:0001371	Flexion contracture
OMIM:616330	SNAP25	6616	HP:0001284	Areflexia
OMIM:616330	SNAP25	6616	HP:0001263	Global developmental delay
OMIM:616330	SNAP25	6616	HP:0002355	Difficulty walking
OMIM:616330	SNAP25	6616	HP:0000508	Ptosis
ORPHA:251274	KCNJ5	3762	HP:0008221	Adrenal hyperplasia
ORPHA:251274	KCNJ5	3762	HP:0002900	Hypokalemia
ORPHA:251274	KCNJ5	3762	HP:0000822	Hypertension
ORPHA:251274	KCNJ5	3762	HP:0040084	Abnormal circulating renin
ORPHA:251274	KCNJ5	3762	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
OMIM:275900	SPART	23111	HP:0011463	Childhood onset
OMIM:275900	SPART	23111	HP:0001270	Motor delay
OMIM:275900	SPART	23111	HP:0003693	Distal amyotrophy
OMIM:275900	SPART	23111	HP:0000316	Hypertelorism
OMIM:275900	SPART	23111	HP:0030084	Clinodactyly
OMIM:275900	SPART	23111	HP:0001347	Hyperreflexia
OMIM:275900	SPART	23111	HP:0004322	Short stature
OMIM:275900	SPART	23111	HP:0005639	Hyperextensible hand joints
OMIM:275900	SPART	23111	HP:0001761	Pes cavus
OMIM:275900	SPART	23111	HP:0002355	Difficulty walking
OMIM:275900	SPART	23111	HP:0011448	Ankle clonus
OMIM:275900	SPART	23111	HP:0006986	Upper limb spasticity
OMIM:275900	SPART	23111	HP:0001256	Intellectual disability, mild
OMIM:275900	SPART	23111	HP:0007340	Lower limb muscle weakness
OMIM:275900	SPART	23111	HP:0002313	Spastic paraparesis
OMIM:275900	SPART	23111	HP:0001263	Global developmental delay
OMIM:275900	SPART	23111	HP:0001310	Dysmetria
OMIM:275900	SPART	23111	HP:0000007	Autosomal recessive inheritance
OMIM:275900	SPART	23111	HP:0001765	Hammertoe
OMIM:275900	SPART	23111	HP:0012385	Camptodactyly
OMIM:275900	SPART	23111	HP:0012371	Hyperplasia of midface
OMIM:275900	SPART	23111	HP:0002751	Kyphoscoliosis
OMIM:275900	SPART	23111	HP:0003487	Babinski sign
OMIM:275900	SPART	23111	HP:0000712	Emotional lability
OMIM:275900	SPART	23111	HP:0001258	Spastic paraplegia
OMIM:275900	SPART	23111	HP:0001260	Dysarthria
OMIM:275900	SPART	23111	HP:0011449	Knee clonus
OMIM:275900	SPART	23111	HP:0001272	Cerebellar atrophy
OMIM:275900	SPART	23111	HP:0002307	Drooling
OMIM:275900	SPART	23111	HP:0001773	Short foot
OMIM:275900	SPART	23111	HP:0001156	Brachydactyly
OMIM:275900	SPART	23111	HP:0002064	Spastic gait
OMIM:210710	RNU4ATAC	100151683	HP:0003273	Hip contracture
OMIM:210710	RNU4ATAC	100151683	HP:0000340	Sloping forehead
OMIM:210710	RNU4ATAC	100151683	HP:0002335	Agenesis of cerebellar vermis
OMIM:210710	RNU4ATAC	100151683	HP:0000107	Renal cyst
OMIM:210710	RNU4ATAC	100151683	HP:0001636	Tetralogy of Fallot
OMIM:210710	RNU4ATAC	100151683	HP:0001249	Intellectual disability
OMIM:210710	RNU4ATAC	100151683	HP:0003044	Shoulder flexion contracture
OMIM:210710	RNU4ATAC	100151683	HP:0000926	Platyspondyly
OMIM:210710	RNU4ATAC	100151683	HP:0007333	Hypoplasia of the frontal lobes
OMIM:210710	RNU4ATAC	100151683	HP:0002980	Femoral bowing
OMIM:210710	RNU4ATAC	100151683	HP:0004616	Cleft vertebral arch
OMIM:210710	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
OMIM:210710	RNU4ATAC	100151683	HP:0002983	Micromelia
OMIM:210710	RNU4ATAC	100151683	HP:0003051	Enlarged metaphyses
OMIM:210710	RNU4ATAC	100151683	HP:0000269	Prominent occiput
OMIM:210710	RNU4ATAC	100151683	HP:0000878	11 pairs of ribs
OMIM:210710	RNU4ATAC	100151683	HP:0001156	Brachydactyly
OMIM:210710	RNU4ATAC	100151683	HP:0003498	Disproportionate short stature
OMIM:210710	RNU4ATAC	100151683	HP:0000954	Single transverse palmar crease
OMIM:210710	RNU4ATAC	100151683	HP:0003826	Stillbirth
OMIM:210710	RNU4ATAC	100151683	HP:0001250	Seizures
OMIM:210710	RNU4ATAC	100151683	HP:0002209	Sparse scalp hair
OMIM:210710	RNU4ATAC	100151683	HP:0001274	Agenesis of corpus callosum
OMIM:210710	RNU4ATAC	100151683	HP:0003042	Elbow dislocation
OMIM:210710	RNU4ATAC	100151683	HP:0000962	Hyperkeratosis
OMIM:210710	RNU4ATAC	100151683	HP:0006380	Knee flexion contracture
OMIM:210710	RNU4ATAC	100151683	HP:0000520	Proptosis
OMIM:210710	RNU4ATAC	100151683	HP:0001302	Pachygyria
OMIM:210710	RNU4ATAC	100151683	HP:0002750	Delayed skeletal maturation
OMIM:210710	RNU4ATAC	100151683	HP:0002987	Elbow flexion contracture
OMIM:210710	RNU4ATAC	100151683	HP:0000958	Dry skin
OMIM:210710	RNU4ATAC	100151683	HP:0001833	Long foot
OMIM:210710	RNU4ATAC	100151683	HP:0002282	Heterotopia
OMIM:210710	RNU4ATAC	100151683	HP:0006579	Prolonged neonatal jaundice
OMIM:210710	RNU4ATAC	100151683	HP:0006400	Absent knee epiphyses
OMIM:210710	RNU4ATAC	100151683	HP:0000054	Micropenis
OMIM:210710	RNU4ATAC	100151683	HP:0000890	Long clavicles
OMIM:210710	RNU4ATAC	100151683	HP:0001508	Failure to thrive
OMIM:210710	RNU4ATAC	100151683	HP:0000252	Microcephaly
OMIM:210710	RNU4ATAC	100151683	HP:0000377	Abnormality of the pinna
OMIM:210710	RNU4ATAC	100151683	HP:0000007	Autosomal recessive inheritance
OMIM:210710	RNU4ATAC	100151683	HP:0000946	Hypoplastic ilia
OMIM:210710	RNU4ATAC	100151683	HP:0001631	Atrial septal defect
OMIM:210710	RNU4ATAC	100151683	HP:0010049	Short metacarpal
OMIM:210710	RNU4ATAC	100151683	HP:0000028	Cryptorchidism
OMIM:210710	RNU4ATAC	100151683	HP:0000347	Micrognathia
OMIM:210710	RNU4ATAC	100151683	HP:0003097	Short femur
OMIM:210710	RNU4ATAC	100151683	HP:0003865	Bowed humerus
OMIM:210710	RNU4ATAC	100151683	HP:0001562	Oligohydramnios
OMIM:210710	RNU4ATAC	100151683	HP:0000470	Short neck
OMIM:210710	RNU4ATAC	100151683	HP:0001680	Coarctation of aorta
OMIM:210710	RNU4ATAC	100151683	HP:0005792	Short humerus
OMIM:210710	RNU4ATAC	100151683	HP:0000448	Prominent nose
OMIM:210710	RNU4ATAC	100151683	HP:0000535	Sparse and thin eyebrow
OMIM:210710	RNU4ATAC	100151683	HP:0000369	Low-set ears
OMIM:210710	RNU4ATAC	100151683	HP:0008551	Microtia
OMIM:210710	RNU4ATAC	100151683	HP:0000089	Renal hypoplasia
OMIM:210710	RNU4ATAC	100151683	HP:0001176	Large hands
OMIM:210710	RNU4ATAC	100151683	HP:0002827	Hip dislocation
OMIM:210710	RNU4ATAC	100151683	HP:0000237	Small anterior fontanelle
OMIM:210710	RNU4ATAC	100151683	HP:0000653	Sparse eyelashes
OMIM:125852	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:125852	INS	3630	HP:0100651	Type I diabetes mellitus
OMIM:155100	MYH9	4627	HP:0000132	Menorrhagia
OMIM:155100	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:155100	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:155100	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:155100	MYH9	4627	HP:0001977	Abnormal thrombosis
OMIM:155100	MYH9	4627	HP:0000421	Epistaxis
OMIM:155100	MYH9	4627	HP:0008264	Neutrophil inclusion bodies
OMIM:155100	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:155100	MYH9	4627	HP:0001902	Giant platelets
OMIM:155100	MYH9	4627	HP:0001658	Myocardial infarction
ORPHA:2712	BCOR	54880	HP:0000275	Narrow face
ORPHA:2712	BCOR	54880	HP:0000684	Delayed eruption of teeth
ORPHA:2712	BCOR	54880	HP:0000343	Long philtrum
ORPHA:2712	BCOR	54880	HP:0001671	Abnormality of the cardiac septa
ORPHA:2712	BCOR	54880	HP:0000456	Bifid nasal tip
ORPHA:2712	BCOR	54880	HP:0000518	Cataract
ORPHA:2712	BCOR	54880	HP:0011090	Fused teeth
ORPHA:2712	BCOR	54880	HP:0000677	Oligodontia
ORPHA:2712	BCOR	54880	HP:0002974	Radioulnar synostosis
ORPHA:2712	BCOR	54880	HP:0010339	Flexion contracture of the 4th toe
ORPHA:2712	BCOR	54880	HP:0001765	Hammertoe
ORPHA:2712	BCOR	54880	HP:0000692	Misalignment of teeth
ORPHA:2712	BCOR	54880	HP:0000176	Submucous cleft hard palate
ORPHA:2712	BCOR	54880	HP:0000482	Microcornea
ORPHA:2712	BCOR	54880	HP:0000426	Prominent nasal bridge
ORPHA:2712	BCOR	54880	HP:0000568	Microphthalmia
ORPHA:2712	BCOR	54880	HP:0010327	Flexion contracture of the 2nd toe
ORPHA:2712	BCOR	54880	HP:0004691	2-3 toe syndactyly
ORPHA:2712	BCOR	54880	HP:0001169	Broad palm
ORPHA:568	BCOR	54880	HP:0000501	Glaucoma
ORPHA:568	BCOR	54880	HP:0008572	External ear malformation
ORPHA:568	BCOR	54880	HP:0006482	Abnormality of dental morphology
ORPHA:568	BCOR	54880	HP:0000588	Optic nerve coloboma
ORPHA:568	BCOR	54880	HP:0000028	Cryptorchidism
ORPHA:568	BCOR	54880	HP:0000202	Oral cleft
ORPHA:568	BCOR	54880	HP:0000568	Microphthalmia
ORPHA:568	BCOR	54880	HP:0004209	Clinodactyly of the 5th finger
ORPHA:568	BCOR	54880	HP:0000126	Hydronephrosis
ORPHA:568	BCOR	54880	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:568	BCOR	54880	HP:0000567	Chorioretinal coloboma
ORPHA:568	BCOR	54880	HP:0006101	Finger syndactyly
ORPHA:568	BCOR	54880	HP:0000482	Microcornea
ORPHA:568	BCOR	54880	HP:0000612	Iris coloboma
ORPHA:568	BCOR	54880	HP:0000252	Microcephaly
ORPHA:568	BCOR	54880	HP:0008678	Renal hypoplasia/aplasia
ORPHA:568	BCOR	54880	HP:0004322	Short stature
ORPHA:568	BCOR	54880	HP:0100490	Camptodactyly of finger
ORPHA:568	BCOR	54880	HP:0000072	Hydroureter
ORPHA:568	BCOR	54880	HP:0009943	Complete duplication of thumb phalanx
ORPHA:568	BCOR	54880	HP:0000047	Hypospadias
ORPHA:568	BCOR	54880	HP:0001249	Intellectual disability
ORPHA:568	NAA10	8260	HP:0000501	Glaucoma
ORPHA:568	NAA10	8260	HP:0008572	External ear malformation
ORPHA:568	NAA10	8260	HP:0006482	Abnormality of dental morphology
ORPHA:568	NAA10	8260	HP:0000588	Optic nerve coloboma
ORPHA:568	NAA10	8260	HP:0000028	Cryptorchidism
ORPHA:568	NAA10	8260	HP:0000202	Oral cleft
ORPHA:568	NAA10	8260	HP:0000568	Microphthalmia
ORPHA:568	NAA10	8260	HP:0004209	Clinodactyly of the 5th finger
ORPHA:568	NAA10	8260	HP:0000126	Hydronephrosis
ORPHA:568	NAA10	8260	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:568	NAA10	8260	HP:0000567	Chorioretinal coloboma
ORPHA:568	NAA10	8260	HP:0006101	Finger syndactyly
ORPHA:568	NAA10	8260	HP:0000482	Microcornea
ORPHA:568	NAA10	8260	HP:0000612	Iris coloboma
ORPHA:568	NAA10	8260	HP:0000252	Microcephaly
ORPHA:568	NAA10	8260	HP:0008678	Renal hypoplasia/aplasia
ORPHA:568	NAA10	8260	HP:0004322	Short stature
ORPHA:568	NAA10	8260	HP:0100490	Camptodactyly of finger
ORPHA:568	NAA10	8260	HP:0000072	Hydroureter
ORPHA:568	NAA10	8260	HP:0009943	Complete duplication of thumb phalanx
ORPHA:568	NAA10	8260	HP:0000047	Hypospadias
ORPHA:568	NAA10	8260	HP:0001249	Intellectual disability
OMIM:614435	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614435	NKX2-5	1482	HP:0010883	Aortic valve atresia
OMIM:614435	NKX2-5	1482	HP:0001629	Ventricular septal defect
OMIM:614435	NKX2-5	1482	HP:0011560	Mitral atresia
OMIM:614435	NKX2-5	1482	HP:0004383	Hypoplastic left heart
OMIM:613156	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	POMT2	29954	HP:0001371	Flexion contracture
OMIM:613156	POMT2	29954	HP:0000028	Cryptorchidism
OMIM:613156	POMT2	29954	HP:0000054	Micropenis
OMIM:613156	POMT2	29954	HP:0001270	Motor delay
OMIM:613156	POMT2	29954	HP:0000252	Microcephaly
OMIM:613156	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	POMT2	29954	HP:0000194	Open mouth
OMIM:613156	POMT2	29954	HP:0002093	Respiratory insufficiency
OMIM:613156	POMT2	29954	HP:0001284	Areflexia
OMIM:613156	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613156	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:613156	POMT2	29954	HP:0001290	Generalized hypotonia
OMIM:613156	POMT2	29954	HP:0003324	Generalized muscle weakness
OMIM:613156	POMT2	29954	HP:0000545	Myopia
OMIM:613156	POMT2	29954	HP:0002827	Hip dislocation
OMIM:613156	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613156	POMT2	29954	HP:0010628	Facial palsy
OMIM:613156	POMT2	29954	HP:0001249	Intellectual disability
OMIM:613156	POMT2	29954	HP:0000486	Strabismus
OMIM:613156	POMT2	29954	HP:0002120	Cerebral cortical atrophy
OMIM:613156	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:613156	POMT2	29954	HP:0000158	Macroglossia
OMIM:613156	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:613156	POMT2	29954	HP:0002650	Scoliosis
OMIM:613156	POMT2	29954	HP:0001265	Hyporeflexia
OMIM:613156	POMT2	29954	HP:0003307	Hyperlordosis
OMIM:206200	TMPRSS6	164656	HP:0000007	Autosomal recessive inheritance
OMIM:206200	TMPRSS6	164656	HP:0001891	Iron deficiency anemia
OMIM:206200	TMPRSS6	164656	HP:0004840	Hypochromic microcytic anemia
OMIM:600634	AIP	9049	HP:0006767	Pituitary prolactin cell adenoma
OMIM:600634	AIP	9049	HP:0040278	Prolactinoma
ORPHA:99015	PLP1	5354	HP:0001347	Hyperreflexia
ORPHA:99015	PLP1	5354	HP:0000648	Optic atrophy
ORPHA:99015	PLP1	5354	HP:0005340	Spastic/hyperactive bladder
ORPHA:99015	PLP1	5354	HP:0001324	Muscle weakness
ORPHA:99015	PLP1	5354	HP:0001249	Intellectual disability
ORPHA:99015	PLP1	5354	HP:0002064	Spastic gait
ORPHA:99015	PLP1	5354	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:99015	PLP1	5354	HP:0003487	Babinski sign
ORPHA:99015	PLP1	5354	HP:0002607	Bowel incontinence
OMIM:272460	FLNB	2317	HP:0009702	Carpal synostosis
OMIM:272460	FLNB	2317	HP:0002656	Epiphyseal dysplasia
OMIM:272460	FLNB	2317	HP:0000384	Preauricular skin tag
OMIM:272460	FLNB	2317	HP:0000518	Cataract
OMIM:272460	FLNB	2317	HP:0000175	Cleft palate
OMIM:272460	FLNB	2317	HP:0000283	Broad face
OMIM:272460	FLNB	2317	HP:0002750	Delayed skeletal maturation
OMIM:272460	FLNB	2317	HP:0003311	Hypoplasia of the odontoid process
OMIM:272460	FLNB	2317	HP:0000455	Broad nasal tip
OMIM:272460	FLNB	2317	HP:0004209	Clinodactyly of the 5th finger
OMIM:272460	FLNB	2317	HP:0003196	Short nose
OMIM:272460	FLNB	2317	HP:0002650	Scoliosis
OMIM:272460	FLNB	2317	HP:0003307	Hyperlordosis
OMIM:272460	FLNB	2317	HP:0006297	Hypoplasia of dental enamel
OMIM:272460	FLNB	2317	HP:0000316	Hypertelorism
OMIM:272460	FLNB	2317	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:272460	FLNB	2317	HP:0008456	C2-C3 subluxation
OMIM:272460	FLNB	2317	HP:0000107	Renal cyst
OMIM:272460	FLNB	2317	HP:0003305	Block vertebrae
OMIM:272460	FLNB	2317	HP:0008368	Tarsal synostosis
OMIM:272460	FLNB	2317	HP:0001763	Pes planus
OMIM:272460	FLNB	2317	HP:0000470	Short neck
OMIM:272460	FLNB	2317	HP:0000410	Mixed hearing impairment
OMIM:272460	FLNB	2317	HP:0002091	Restrictive ventilatory defect
OMIM:272460	FLNB	2317	HP:0003521	Disproportionate short-trunk short stature
OMIM:272460	FLNB	2317	HP:0000007	Autosomal recessive inheritance
OMIM:272460	FLNB	2317	HP:0007961	Rarefaction of retinal pigmentation
OMIM:244200	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:244200	PROKR2	128674	HP:0003829	Incomplete penetrance
OMIM:244200	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:244200	PROKR2	128674	HP:0000054	Micropenis
OMIM:244200	PROKR2	128674	HP:0000204	Cleft upper lip
OMIM:244200	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:244200	PROKR2	128674	HP:0000175	Cleft palate
OMIM:244200	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:244200	PROKR2	128674	HP:0000122	Unilateral renal agenesis
OMIM:244200	PROKR2	128674	HP:0000601	Hypotelorism
OMIM:244200	PROKR2	128674	HP:0001763	Pes planus
OMIM:244200	PROKR2	128674	HP:0000767	Pectus excavatum
OMIM:244200	PROKR2	128674	HP:0000458	Anosmia
OMIM:611721	PSAP	5660	HP:0001290	Generalized hypotonia
OMIM:611721	PSAP	5660	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611721	PSAP	5660	HP:0001336	Myoclonus
OMIM:611721	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:611721	PSAP	5660	HP:0002487	Hyperkinesis
OMIM:611721	PSAP	5660	HP:0004343	Abnormality of glycosphingolipid metabolism
OMIM:611721	PSAP	5660	HP:0002518	Abnormality of the periventricular white matter
OMIM:611721	PSAP	5660	HP:0003577	Congenital onset
OMIM:611721	PSAP	5660	HP:0001744	Splenomegaly
OMIM:611721	PSAP	5660	HP:0001522	Death in infancy
OMIM:611721	PSAP	5660	HP:0011968	Feeding difficulties
OMIM:611721	PSAP	5660	HP:0011169	Generalized clonic seizures
OMIM:611721	PSAP	5660	HP:0002240	Hepatomegaly
OMIM:611721	PSAP	5660	HP:0003487	Babinski sign
OMIM:611721	PSAP	5660	HP:0002529	Neuronal loss in central nervous system
OMIM:611721	PSAP	5660	HP:0007305	CNS demyelination
OMIM:611721	PSAP	5660	HP:0002380	Fasciculations
OMIM:104300	APP	351	HP:0001300	Parkinsonism
OMIM:104300	APP	351	HP:0002423	Long-tract signs
OMIM:104300	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:104300	APP	351	HP:0001425	Heterogeneous
OMIM:104300	APP	351	HP:0000726	Dementia
OMIM:104300	APP	351	HP:0002185	Neurofibrillary tangles
OMIM:104300	APP	351	HP:0002511	Alzheimer disease
OMIM:253290	CHRND	1144	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRND	1144	HP:0005905	Abnormal cervical curvature
OMIM:253290	CHRND	1144	HP:0002948	Vertebral fusion
OMIM:253290	CHRND	1144	HP:0001561	Polyhydramnios
OMIM:253290	CHRND	1144	HP:0002304	Akinesia
OMIM:253290	CHRND	1144	HP:0001371	Flexion contracture
OMIM:253290	CHRND	1144	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRND	1144	HP:0000316	Hypertelorism
OMIM:253290	CHRND	1144	HP:0000175	Cleft palate
OMIM:253290	CHRND	1144	HP:0001373	Joint dislocation
OMIM:253290	CHRND	1144	HP:0002047	Malignant hyperthermia
OMIM:253290	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRND	1144	HP:0000476	Cystic hygroma
OMIM:253290	CHRND	1144	HP:0000347	Micrognathia
OMIM:253290	CHRND	1144	HP:0001961	Hypoplastic heart
OMIM:253290	CHRND	1144	HP:0000883	Thin ribs
OMIM:253290	CHRND	1144	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRND	1144	HP:0009381	Short finger
OMIM:253290	CHRND	1144	HP:0000969	Edema
OMIM:253290	CHRND	1144	HP:0000369	Low-set ears
OMIM:253290	CHRND	1144	HP:0001989	Fetal akinesia sequence
OMIM:253290	CHRND	1144	HP:0001999	Abnormal facial shape
OMIM:253290	CHRND	1144	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRND	1144	HP:0001040	Multiple pterygia
OMIM:253290	CHRND	1144	HP:0000286	Epicanthus
OMIM:253290	CHRND	1144	HP:0003634	Amyoplasia
OMIM:253290	CHRNG	1146	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRNG	1146	HP:0005905	Abnormal cervical curvature
OMIM:253290	CHRNG	1146	HP:0002948	Vertebral fusion
OMIM:253290	CHRNG	1146	HP:0001561	Polyhydramnios
OMIM:253290	CHRNG	1146	HP:0002304	Akinesia
OMIM:253290	CHRNG	1146	HP:0001371	Flexion contracture
OMIM:253290	CHRNG	1146	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRNG	1146	HP:0000316	Hypertelorism
OMIM:253290	CHRNG	1146	HP:0000175	Cleft palate
OMIM:253290	CHRNG	1146	HP:0001373	Joint dislocation
OMIM:253290	CHRNG	1146	HP:0002047	Malignant hyperthermia
OMIM:253290	CHRNG	1146	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRNG	1146	HP:0000476	Cystic hygroma
OMIM:253290	CHRNG	1146	HP:0000347	Micrognathia
OMIM:253290	CHRNG	1146	HP:0001961	Hypoplastic heart
OMIM:253290	CHRNG	1146	HP:0000883	Thin ribs
OMIM:253290	CHRNG	1146	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRNG	1146	HP:0009381	Short finger
OMIM:253290	CHRNG	1146	HP:0000969	Edema
OMIM:253290	CHRNG	1146	HP:0000369	Low-set ears
OMIM:253290	CHRNG	1146	HP:0001989	Fetal akinesia sequence
OMIM:253290	CHRNG	1146	HP:0001999	Abnormal facial shape
OMIM:253290	CHRNG	1146	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRNG	1146	HP:0001040	Multiple pterygia
OMIM:253290	CHRNG	1146	HP:0000286	Epicanthus
OMIM:253290	CHRNG	1146	HP:0003634	Amyoplasia
OMIM:253290	CHRNA1	1134	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRNA1	1134	HP:0005905	Abnormal cervical curvature
OMIM:253290	CHRNA1	1134	HP:0002948	Vertebral fusion
OMIM:253290	CHRNA1	1134	HP:0001561	Polyhydramnios
OMIM:253290	CHRNA1	1134	HP:0002304	Akinesia
OMIM:253290	CHRNA1	1134	HP:0001371	Flexion contracture
OMIM:253290	CHRNA1	1134	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRNA1	1134	HP:0000316	Hypertelorism
OMIM:253290	CHRNA1	1134	HP:0000175	Cleft palate
OMIM:253290	CHRNA1	1134	HP:0001373	Joint dislocation
OMIM:253290	CHRNA1	1134	HP:0002047	Malignant hyperthermia
OMIM:253290	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRNA1	1134	HP:0000476	Cystic hygroma
OMIM:253290	CHRNA1	1134	HP:0000347	Micrognathia
OMIM:253290	CHRNA1	1134	HP:0001961	Hypoplastic heart
OMIM:253290	CHRNA1	1134	HP:0000883	Thin ribs
OMIM:253290	CHRNA1	1134	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRNA1	1134	HP:0009381	Short finger
OMIM:253290	CHRNA1	1134	HP:0000969	Edema
OMIM:253290	CHRNA1	1134	HP:0000369	Low-set ears
OMIM:253290	CHRNA1	1134	HP:0001989	Fetal akinesia sequence
OMIM:253290	CHRNA1	1134	HP:0001999	Abnormal facial shape
OMIM:253290	CHRNA1	1134	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRNA1	1134	HP:0001040	Multiple pterygia
OMIM:253290	CHRNA1	1134	HP:0000286	Epicanthus
OMIM:253290	CHRNA1	1134	HP:0003634	Amyoplasia
OMIM:615266	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
ORPHA:3377	MYH8	4626	HP:0003011	Abnormality of the musculature
ORPHA:3377	MYH8	4626	HP:0001376	Limitation of joint mobility
ORPHA:3377	MYH8	4626	HP:0004322	Short stature
ORPHA:3377	MYH8	4626	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:146520	CDSN	1041	HP:0004782	Hypotrichosis of the scalp
OMIM:146520	CDSN	1041	HP:0000006	Autosomal dominant inheritance
ORPHA:319600	IRF8	3394	HP:0002716	Lymphadenopathy
ORPHA:319600	IRF8	3394	HP:0010978	Abnormality of immune system physiology
ORPHA:319600	IRF8	3394	HP:0001945	Fever
OMIM:245150	MGP	4256	HP:0001642	Pulmonic stenosis
OMIM:245150	MGP	4256	HP:0001611	Nasal speech
OMIM:245150	MGP	4256	HP:0002002	Deep philtrum
OMIM:245150	MGP	4256	HP:0002514	Cerebral calcification
OMIM:245150	MGP	4256	HP:0011109	Chronic sinusitis
OMIM:245150	MGP	4256	HP:0000276	Long face
OMIM:245150	MGP	4256	HP:0008747	Cartilaginous ossification of larynx
OMIM:245150	MGP	4256	HP:0000007	Autosomal recessive inheritance
OMIM:245150	MGP	4256	HP:0000403	Recurrent otitis media
OMIM:245150	MGP	4256	HP:0006140	Premature fusion of phalangeal epiphyses
OMIM:245150	MGP	4256	HP:0004971	Pulmonary artery hypoplasia
OMIM:245150	MGP	4256	HP:0001629	Ventricular septal defect
OMIM:245150	MGP	4256	HP:0000365	Hearing impairment
OMIM:245150	MGP	4256	HP:0005103	Calcification of the auricular cartilage
OMIM:245150	MGP	4256	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:245150	MGP	4256	HP:0009882	Short distal phalanx of finger
OMIM:245150	MGP	4256	HP:0001507	Growth abnormality
OMIM:245150	MGP	4256	HP:0002837	Recurrent bronchitis
OMIM:245150	MGP	4256	HP:0011800	Midface retrusion
OMIM:245150	MGP	4256	HP:0001250	Seizures
OMIM:245150	MGP	4256	HP:0001256	Intellectual disability, mild
OMIM:245150	MGP	4256	HP:0006646	Costal cartilage calcification
OMIM:245150	MGP	4256	HP:0005280	Depressed nasal bridge
OMIM:245150	MGP	4256	HP:0005275	Cartilaginous ossification of nose
OMIM:245150	MGP	4256	HP:0010655	Epiphyseal stippling
OMIM:245150	MGP	4256	HP:0009778	Short thumb
OMIM:245150	MGP	4256	HP:0000272	Malar flattening
OMIM:245150	MGP	4256	HP:0010109	Short hallux
OMIM:245150	MGP	4256	HP:0000400	Macrotia
OMIM:245150	MGP	4256	HP:0005268	Spontaneous abortion
OMIM:237900	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:237900	UGT1A1	54658	HP:0000952	Jaundice
OMIM:237900	UGT1A1	54658	HP:0001343	Kernicterus
OMIM:237900	UGT1A1	54658	HP:0008176	Neonatal unconjugated hyperbilirubinemia
OMIM:237900	UGT1A1	54658	HP:0100021	Cerebral palsy
OMIM:614877	PEX16	9409	HP:0001310	Dysmetria
OMIM:614877	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614877	PEX16	9409	HP:0007371	Corpus callosum atrophy
OMIM:614877	PEX16	9409	HP:0100543	Cognitive impairment
OMIM:614877	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX16	9409	HP:0003676	Progressive
OMIM:614877	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX16	9409	HP:0002019	Constipation
OMIM:614877	PEX16	9409	HP:0000505	Visual impairment
OMIM:614877	PEX16	9409	HP:0000648	Optic atrophy
OMIM:614877	PEX16	9409	HP:0008167	Very long chain fatty acid accumulation
OMIM:614877	PEX16	9409	HP:0001260	Dysarthria
OMIM:614877	PEX16	9409	HP:0002015	Dysphagia
OMIM:614877	PEX16	9409	HP:0000518	Cataract
OMIM:614877	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614877	PEX16	9409	HP:0006855	Cerebellar vermis atrophy
OMIM:614877	PEX16	9409	HP:0000639	Nystagmus
OMIM:614877	PEX16	9409	HP:0001251	Ataxia
OMIM:614877	PEX16	9409	HP:0001508	Failure to thrive
OMIM:614877	PEX16	9409	HP:0000556	Retinal dystrophy
OMIM:614877	PEX16	9409	HP:0002313	Spastic paraparesis
OMIM:150400	WNT10A	80326	HP:0006342	Peg-shaped maxillary lateral incisors
OMIM:150400	WNT10A	80326	HP:0000006	Autosomal dominant inheritance
OMIM:150400	WNT10A	80326	HP:0009804	Reduced number of teeth
OMIM:150400	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:137940	SOX18	54345	HP:0007621	Telangiectasia of extensor surfaces
OMIM:137940	SOX18	54345	HP:0000653	Sparse eyelashes
OMIM:137940	SOX18	54345	HP:0000006	Autosomal dominant inheritance
OMIM:137940	SOX18	54345	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:137940	SOX18	54345	HP:0000303	Mandibular prognathia
OMIM:137940	SOX18	54345	HP:0000793	Membranoproliferative glomerulonephritis
OMIM:137940	SOX18	54345	HP:0012471	Thick vermilion border
OMIM:137940	SOX18	54345	HP:0012622	Chronic kidney disease
OMIM:137940	SOX18	54345	HP:0003577	Congenital onset
OMIM:137940	SOX18	54345	HP:0003676	Progressive
OMIM:137940	SOX18	54345	HP:0002223	Absent eyebrow
OMIM:137940	SOX18	54345	HP:0000431	Wide nasal bridge
OMIM:137940	SOX18	54345	HP:0000561	Absent eyelashes
OMIM:137940	SOX18	54345	HP:0000286	Epicanthus
OMIM:137940	SOX18	54345	HP:0000426	Prominent nasal bridge
OMIM:137940	SOX18	54345	HP:0100540	Palpebral edema
OMIM:137940	SOX18	54345	HP:0005598	Facial telangiectasia in butterfly midface distribution
OMIM:137940	SOX18	54345	HP:0000535	Sparse and thin eyebrow
OMIM:137940	SOX18	54345	HP:0001006	Hypotrichosis
OMIM:137940	SOX18	54345	HP:0000034	Hydrocele testis
OMIM:137940	SOX18	54345	HP:0001004	Lymphedema
OMIM:137940	SOX18	54345	HP:0007543	Epidermal hyperkeratosis
OMIM:137940	SOX18	54345	HP:0000300	Oval face
OMIM:137940	SOX18	54345	HP:0001596	Alopecia
OMIM:137940	SOX18	54345	HP:0003189	Long nose
OMIM:137940	SOX18	54345	HP:0006521	Pulmonary lymphangiectasia
OMIM:612813	ACAN	176	HP:0000007	Autosomal recessive inheritance
OMIM:612813	ACAN	176	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:175700	GLI3	2737	HP:0000243	Trigonocephaly
OMIM:175700	GLI3	2737	HP:0001841	Preaxial foot polydactyly
OMIM:175700	GLI3	2737	HP:0003828	Variable expressivity
OMIM:175700	GLI3	2737	HP:0030799	Scaphocephaly
OMIM:175700	GLI3	2737	HP:0000316	Hypertelorism
OMIM:175700	GLI3	2737	HP:0011304	Broad thumb
OMIM:175700	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:175700	GLI3	2737	HP:0006097	3-4 finger syndactyly
OMIM:175700	GLI3	2737	HP:0010059	Broad hallux phalanx
OMIM:300419	ARX	170302	HP:0001249	Intellectual disability
OMIM:300419	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:614402	VAX1	11023	HP:0001274	Agenesis of corpus callosum
OMIM:614402	VAX1	11023	HP:0000568	Microphthalmia
OMIM:614402	VAX1	11023	HP:0000175	Cleft palate
OMIM:614402	VAX1	11023	HP:0001263	Global developmental delay
OMIM:614402	VAX1	11023	HP:0000204	Cleft upper lip
OMIM:614402	VAX1	11023	HP:0012687	Agenesis of pineal gland
OMIM:614402	VAX1	11023	HP:0000007	Autosomal recessive inheritance
OMIM:601238	ATCAY	85300	HP:0002066	Gait ataxia
OMIM:601238	ATCAY	85300	HP:0002136	Broad-based gait
OMIM:601238	ATCAY	85300	HP:0000639	Nystagmus
OMIM:601238	ATCAY	85300	HP:0001260	Dysarthria
OMIM:601238	ATCAY	85300	HP:0000007	Autosomal recessive inheritance
OMIM:601238	ATCAY	85300	HP:0001263	Global developmental delay
OMIM:601238	ATCAY	85300	HP:0002080	Intention tremor
OMIM:601238	ATCAY	85300	HP:0001290	Generalized hypotonia
ORPHA:100976	TGM1	7051	HP:0008064	Ichthyosis
OMIM:616502	DRAM2	128338	HP:0007401	Macular atrophy
OMIM:616502	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:616502	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
ORPHA:2698	GJB2	2706	HP:0001482	Subcutaneous nodule
ORPHA:2698	GJB2	2706	HP:0001820	Leukonychia
ORPHA:2698	GJB2	2706	HP:0000407	Sensorineural hearing impairment
ORPHA:2698	GJB2	2706	HP:0000982	Palmoplantar keratoderma
OMIM:551500	ATP6	4508	HP:0007814	Retinal pigment epithelial mottling
OMIM:551500	ATP6	4508	HP:0000763	Sensory neuropathy
OMIM:551500	ATP6	4508	HP:0001251	Ataxia
OMIM:551500	ATP6	4508	HP:0000618	Blindness
OMIM:551500	ATP6	4508	HP:0003198	Myopathy
OMIM:551500	ATP6	4508	HP:0003737	Mitochondrial myopathy
OMIM:551500	ATP6	4508	HP:0000510	Rod-cone dystrophy
OMIM:551500	ATP6	4508	HP:0003701	Proximal muscle weakness
OMIM:551500	ATP6	4508	HP:0007117	Corticospinal tract atrophy
OMIM:551500	ATP6	4508	HP:0001250	Seizures
OMIM:551500	ATP6	4508	HP:0001263	Global developmental delay
OMIM:551500	ATP6	4508	HP:0000639	Nystagmus
OMIM:551500	ATP6	4508	HP:0000726	Dementia
OMIM:551500	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:613705	SUMO1	7341	HP:0100333	Unilateral cleft lip
OMIM:613705	SUMO1	7341	HP:0100334	Unilateral cleft palate
OMIM:615959	SPEG	10290	HP:0000347	Micrognathia
OMIM:615959	SPEG	10290	HP:0003327	Axial muscle weakness
OMIM:615959	SPEG	10290	HP:0000007	Autosomal recessive inheritance
OMIM:615959	SPEG	10290	HP:0010628	Facial palsy
OMIM:615959	SPEG	10290	HP:0002093	Respiratory insufficiency
OMIM:615959	SPEG	10290	HP:0000160	Narrow mouth
OMIM:615959	SPEG	10290	HP:0003593	Infantile onset
OMIM:615959	SPEG	10290	HP:0006829	Severe muscular hypotonia
OMIM:615959	SPEG	10290	HP:0000218	High palate
OMIM:615959	SPEG	10290	HP:0001270	Motor delay
OMIM:615959	SPEG	10290	HP:0001284	Areflexia
OMIM:615959	SPEG	10290	HP:0001290	Generalized hypotonia
OMIM:615959	SPEG	10290	HP:0003273	Hip contracture
OMIM:615959	SPEG	10290	HP:0000278	Retrognathia
OMIM:615959	SPEG	10290	HP:0000602	Ophthalmoplegia
OMIM:615959	SPEG	10290	HP:0001644	Dilated cardiomyopathy
OMIM:617171	DEAF1	10522	HP:0000720	Mood swings
OMIM:617171	DEAF1	10522	HP:0000007	Autosomal recessive inheritance
OMIM:617171	DEAF1	10522	HP:0000713	Agitation
OMIM:617171	DEAF1	10522	HP:0100660	Dyskinesia
OMIM:617171	DEAF1	10522	HP:0004305	Involuntary movements
OMIM:617171	DEAF1	10522	HP:0000718	Aggressive behavior
OMIM:617171	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:617171	DEAF1	10522	HP:0002353	EEG abnormality
OMIM:617171	DEAF1	10522	HP:0003593	Infantile onset
OMIM:617171	DEAF1	10522	HP:0002360	Sleep disturbance
OMIM:617171	DEAF1	10522	HP:0002133	Status epilepticus
OMIM:617171	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:617171	DEAF1	10522	HP:0001290	Generalized hypotonia
OMIM:617171	DEAF1	10522	HP:0001344	Absent speech
OMIM:608194	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:608194	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:608194	RPGRIP1	57096	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:608194	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:608194	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:616158	PURA	5813	HP:0000486	Strabismus
OMIM:616158	PURA	5813	HP:0002058	Myopathic facies
OMIM:616158	PURA	5813	HP:0011968	Feeding difficulties
OMIM:616158	PURA	5813	HP:0000639	Nystagmus
OMIM:616158	PURA	5813	HP:0000218	High palate
OMIM:616158	PURA	5813	HP:0001250	Seizures
OMIM:616158	PURA	5813	HP:0001344	Absent speech
OMIM:616158	PURA	5813	HP:0003429	CNS hypomyelination
OMIM:616158	PURA	5813	HP:0012448	Delayed myelination
OMIM:616158	PURA	5813	HP:0002093	Respiratory insufficiency
OMIM:616158	PURA	5813	HP:0011220	Prominent forehead
OMIM:616158	PURA	5813	HP:0001263	Global developmental delay
OMIM:616158	PURA	5813	HP:0001319	Neonatal hypotonia
OMIM:616158	PURA	5813	HP:0001252	Muscular hypotonia
OMIM:616158	PURA	5813	HP:0003828	Variable expressivity
OMIM:616158	PURA	5813	HP:0000194	Open mouth
OMIM:616158	PURA	5813	HP:0000006	Autosomal dominant inheritance
OMIM:616158	PURA	5813	HP:0001249	Intellectual disability
OMIM:616158	PURA	5813	HP:0001336	Myoclonus
OMIM:613980	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:610713	HOXD13	3239	HP:0012165	Oligodactyly
OMIM:610713	HOXD13	3239	HP:0009803	Short phalanx of finger
OMIM:610713	HOXD13	3239	HP:0001156	Brachydactyly
OMIM:610713	HOXD13	3239	HP:0006101	Finger syndactyly
OMIM:610713	HOXD13	3239	HP:0012385	Camptodactyly
OMIM:615071	LARP7	51574	HP:0000272	Malar flattening
OMIM:615071	LARP7	51574	HP:0000154	Wide mouth
OMIM:615071	LARP7	51574	HP:0003510	Severe short stature
OMIM:615071	LARP7	51574	HP:0012471	Thick vermilion border
OMIM:615071	LARP7	51574	HP:0010864	Intellectual disability, severe
OMIM:615071	LARP7	51574	HP:0001263	Global developmental delay
OMIM:615071	LARP7	51574	HP:0000369	Low-set ears
OMIM:615071	LARP7	51574	HP:0000431	Wide nasal bridge
OMIM:615071	LARP7	51574	HP:0000490	Deeply set eye
OMIM:615071	LARP7	51574	HP:0000445	Wide nose
OMIM:615071	LARP7	51574	HP:0000252	Microcephaly
OMIM:615071	LARP7	51574	HP:0000007	Autosomal recessive inheritance
OMIM:615071	LARP7	51574	HP:0000322	Short philtrum
OMIM:615071	LARP7	51574	HP:0004325	Decreased body weight
OMIM:615071	LARP7	51574	HP:0005280	Depressed nasal bridge
OMIM:615071	LARP7	51574	HP:0002650	Scoliosis
OMIM:615112	LRIG2	9860	HP:0002019	Constipation
OMIM:615112	LRIG2	9860	HP:0000010	Recurrent urinary tract infections
OMIM:615112	LRIG2	9860	HP:0000076	Vesicoureteral reflux
OMIM:615112	LRIG2	9860	HP:0000805	Enuresis
OMIM:615112	LRIG2	9860	HP:0000126	Hydronephrosis
OMIM:615112	LRIG2	9860	HP:0000012	Urinary urgency
OMIM:615112	LRIG2	9860	HP:0000083	Renal insufficiency
OMIM:615112	LRIG2	9860	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX26	55670	HP:0006829	Severe muscular hypotonia
OMIM:614872	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX26	55670	HP:0005469	Flat occiput
OMIM:614872	PEX26	55670	HP:0001522	Death in infancy
OMIM:614872	PEX26	55670	HP:0012368	Flat face
OMIM:614872	PEX26	55670	HP:0000348	High forehead
OMIM:614872	PEX26	55670	HP:0000952	Jaundice
OMIM:614872	PEX26	55670	HP:0000343	Long philtrum
OMIM:614872	PEX26	55670	HP:0008935	Generalized neonatal hypotonia
OMIM:614872	PEX26	55670	HP:0000218	High palate
OMIM:614872	PEX26	55670	HP:0000358	Posteriorly rotated ears
OMIM:614872	PEX26	55670	HP:0001762	Talipes equinovarus
OMIM:614872	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614872	PEX26	55670	HP:0001250	Seizures
OMIM:614872	PEX26	55670	HP:0000639	Nystagmus
OMIM:614872	PEX26	55670	HP:0011968	Feeding difficulties
OMIM:614872	PEX26	55670	HP:0000369	Low-set ears
OMIM:173600	FLCN	201163	HP:0002108	Spontaneous pneumothorax
OMIM:173600	FLCN	201163	HP:0000006	Autosomal dominant inheritance
OMIM:173600	FLCN	201163	HP:0003829	Incomplete penetrance
OMIM:212066	MGAT2	4247	HP:0000574	Thick eyebrow
OMIM:212066	MGAT2	4247	HP:0009623	Proximal placement of thumb
OMIM:212066	MGAT2	4247	HP:0000154	Wide mouth
OMIM:212066	MGAT2	4247	HP:0000407	Sensorineural hearing impairment
OMIM:212066	MGAT2	4247	HP:0002317	Unsteady gait
OMIM:212066	MGAT2	4247	HP:0001976	Reduced antithrombin III activity
OMIM:212066	MGAT2	4247	HP:0000248	Brachycephaly
OMIM:212066	MGAT2	4247	HP:0000938	Osteopenia
OMIM:212066	MGAT2	4247	HP:0000527	Long eyelashes
OMIM:212066	MGAT2	4247	HP:0000426	Prominent nasal bridge
OMIM:212066	MGAT2	4247	HP:0000767	Pectus excavatum
OMIM:212066	MGAT2	4247	HP:0006887	Intellectual disability, progressive
OMIM:212066	MGAT2	4247	HP:0000278	Retrognathia
OMIM:212066	MGAT2	4247	HP:0000742	Self-mutilation
OMIM:212066	MGAT2	4247	HP:0007466	Midfrontal capillary hemangioma
OMIM:212066	MGAT2	4247	HP:0000733	Stereotypy
OMIM:212066	MGAT2	4247	HP:0002673	Coxa valga
OMIM:212066	MGAT2	4247	HP:0000212	Gingival overgrowth
OMIM:212066	MGAT2	4247	HP:0004841	Reduced factor XII activity
OMIM:212066	MGAT2	4247	HP:0000400	Macrotia
OMIM:212066	MGAT2	4247	HP:0001250	Seizures
OMIM:212066	MGAT2	4247	HP:0012301	Type II transferrin isoform profile
OMIM:212066	MGAT2	4247	HP:0009765	Low hanging columella
OMIM:212066	MGAT2	4247	HP:0000232	Everted lower lip vermilion
OMIM:212066	MGAT2	4247	HP:0001547	Abnormality of the rib cage
OMIM:212066	MGAT2	4247	HP:0000470	Short neck
OMIM:212066	MGAT2	4247	HP:0000494	Downslanted palpebral fissures
OMIM:212066	MGAT2	4247	HP:0000252	Microcephaly
OMIM:212066	MGAT2	4247	HP:0001508	Failure to thrive
OMIM:212066	MGAT2	4247	HP:0001572	Macrodontia
OMIM:212066	MGAT2	4247	HP:0000699	Diastema
OMIM:212066	MGAT2	4247	HP:0001763	Pes planus
OMIM:212066	MGAT2	4247	HP:0011858	Reduced factor IX activity
OMIM:212066	MGAT2	4247	HP:0000718	Aggressive behavior
OMIM:212066	MGAT2	4247	HP:0004322	Short stature
OMIM:212066	MGAT2	4247	HP:0000256	Macrocephaly
OMIM:212066	MGAT2	4247	HP:0010808	Protruding tongue
OMIM:212066	MGAT2	4247	HP:0001290	Generalized hypotonia
OMIM:212066	MGAT2	4247	HP:0003100	Slender long bone
OMIM:212066	MGAT2	4247	HP:0000194	Open mouth
OMIM:212066	MGAT2	4247	HP:0008897	Postnatal growth retardation
OMIM:212066	MGAT2	4247	HP:0001929	Reduced factor XI activity
OMIM:212066	MGAT2	4247	HP:0003423	Thoracolumbar kyphoscoliosis
OMIM:212066	MGAT2	4247	HP:0001629	Ventricular septal defect
OMIM:212066	MGAT2	4247	HP:0010864	Intellectual disability, severe
OMIM:212066	MGAT2	4247	HP:0000233	Thin vermilion border
OMIM:212066	MGAT2	4247	HP:0000007	Autosomal recessive inheritance
OMIM:212066	MGAT2	4247	HP:0000358	Posteriorly rotated ears
ORPHA:157846	FTL	2512	HP:0002310	Orofacial dyskinesia
ORPHA:157846	FTL	2512	HP:0000648	Optic atrophy
ORPHA:157846	FTL	2512	HP:0001288	Gait disturbance
ORPHA:157846	FTL	2512	HP:0002072	Chorea
ORPHA:157846	FTL	2512	HP:0000546	Retinal degeneration
ORPHA:157846	FTL	2512	HP:0001332	Dystonia
ORPHA:157846	FTL	2512	HP:0001618	Dysphonia
ORPHA:157846	FTL	2512	HP:0002067	Bradykinesia
ORPHA:157846	FTL	2512	HP:0001264	Spastic diplegia
OMIM:616461	GAL	51083	HP:0000006	Autosomal dominant inheritance
OMIM:616461	GAL	51083	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:255320	RYR1	6261	HP:0003623	Neonatal onset
OMIM:255320	RYR1	6261	HP:0003327	Axial muscle weakness
OMIM:255320	RYR1	6261	HP:0001319	Neonatal hypotonia
OMIM:255320	RYR1	6261	HP:0002205	Recurrent respiratory infections
OMIM:255320	RYR1	6261	HP:0001388	Joint laxity
OMIM:255320	RYR1	6261	HP:0008872	Feeding difficulties in infancy
OMIM:255320	RYR1	6261	HP:0003560	Muscular dystrophy
OMIM:255320	RYR1	6261	HP:0003202	Skeletal muscle atrophy
OMIM:255320	RYR1	6261	HP:0001284	Areflexia
OMIM:255320	RYR1	6261	HP:0001789	Hydrops fetalis
OMIM:255320	RYR1	6261	HP:0002089	Pulmonary hypoplasia
OMIM:255320	RYR1	6261	HP:0002650	Scoliosis
OMIM:255320	RYR1	6261	HP:0003557	Increased variability in muscle fiber diameter
OMIM:255320	RYR1	6261	HP:0003812	Phenotypic variability
OMIM:255320	RYR1	6261	HP:0000508	Ptosis
OMIM:255320	RYR1	6261	HP:0000544	External ophthalmoplegia
OMIM:255320	RYR1	6261	HP:0009025	Increased connective tissue
OMIM:255320	RYR1	6261	HP:0000007	Autosomal recessive inheritance
OMIM:255320	RYR1	6261	HP:0001558	Decreased fetal movement
OMIM:255320	RYR1	6261	HP:0002058	Myopathic facies
OMIM:255320	RYR1	6261	HP:0001270	Motor delay
OMIM:255320	RYR1	6261	HP:0000218	High palate
OMIM:255320	RYR1	6261	HP:0002093	Respiratory insufficiency
OMIM:255320	RYR1	6261	HP:0003701	Proximal muscle weakness
OMIM:255320	RYR1	6261	HP:0010628	Facial palsy
OMIM:255320	RYR1	6261	HP:0003324	Generalized muscle weakness
OMIM:255320	RYR1	6261	HP:0009046	Difficulty running
OMIM:255320	RYR1	6261	HP:0001561	Polyhydramnios
OMIM:255320	RYR1	6261	HP:0003787	Type 1 and type 2 muscle fiber minicore regions
OMIM:255320	RYR1	6261	HP:0003738	Exercise-induced myalgia
OMIM:614134	COL9A1	1297	HP:0000007	Autosomal recessive inheritance
OMIM:614134	COL9A1	1297	HP:0000407	Sensorineural hearing impairment
OMIM:614134	COL9A1	1297	HP:0011003	Severe Myopia
OMIM:614134	COL9A1	1297	HP:0002656	Epiphyseal dysplasia
OMIM:614134	COL9A1	1297	HP:0007964	Degenerative vitreoretinopathy
OMIM:614134	COL9A1	1297	HP:0004322	Short stature
OMIM:616193	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:616193	FMN2	56776	HP:0001249	Intellectual disability
OMIM:616193	FMN2	56776	HP:0001263	Global developmental delay
OMIM:616193	FMN2	56776	HP:0002465	Poor speech
OMIM:616193	FMN2	56776	HP:0003593	Infantile onset
ORPHA:2707	UBE3B	89910	HP:0001508	Failure to thrive
ORPHA:2707	UBE3B	89910	HP:0045074	Thin eyebrow
ORPHA:2707	UBE3B	89910	HP:0000233	Thin vermilion border
ORPHA:2707	UBE3B	89910	HP:0010547	Muscle flaccidity
ORPHA:2707	UBE3B	89910	HP:0000286	Epicanthus
ORPHA:2707	UBE3B	89910	HP:0000252	Microcephaly
ORPHA:2707	UBE3B	89910	HP:0011968	Feeding difficulties
ORPHA:2707	UBE3B	89910	HP:0001833	Long foot
ORPHA:2707	UBE3B	89910	HP:0000322	Short philtrum
ORPHA:2707	UBE3B	89910	HP:0000581	Blepharophimosis
ORPHA:2707	UBE3B	89910	HP:0002878	Respiratory failure
ORPHA:2707	UBE3B	89910	HP:0000278	Retrognathia
ORPHA:2707	UBE3B	89910	HP:0000482	Microcornea
ORPHA:2707	UBE3B	89910	HP:0000582	Upslanted palpebral fissure
ORPHA:2707	UBE3B	89910	HP:0001328	Specific learning disability
ORPHA:2707	UBE3B	89910	HP:0001166	Arachnodactyly
ORPHA:2707	UBE3B	89910	HP:0002705	High, narrow palate
ORPHA:2707	UBE3B	89910	HP:0005469	Flat occiput
ORPHA:2707	UBE3B	89910	HP:0000347	Micrognathia
ORPHA:2707	UBE3B	89910	HP:0000506	Telecanthus
ORPHA:2707	UBE3B	89910	HP:0000691	Microdontia
ORPHA:2707	UBE3B	89910	HP:0001249	Intellectual disability
ORPHA:2707	UBE3B	89910	HP:0002223	Absent eyebrow
ORPHA:2707	UBE3B	89910	HP:0012745	Short palpebral fissure
ORPHA:2707	UBE3B	89910	HP:0002098	Respiratory distress
ORPHA:2707	UBE3B	89910	HP:0000275	Narrow face
ORPHA:2707	UBE3B	89910	HP:0000276	Long face
ORPHA:2707	UBE3B	89910	HP:0000154	Wide mouth
ORPHA:2707	UBE3B	89910	HP:0000545	Myopia
ORPHA:2707	UBE3B	89910	HP:0001510	Growth delay
ORPHA:2707	UBE3B	89910	HP:0000319	Smooth philtrum
ORPHA:2707	UBE3B	89910	HP:0000248	Brachycephaly
ORPHA:2707	UBE3B	89910	HP:0000486	Strabismus
ORPHA:2707	UBE3B	89910	HP:0001263	Global developmental delay
ORPHA:2707	UBE3B	89910	HP:0000384	Preauricular skin tag
ORPHA:2707	UBE3B	89910	HP:0000639	Nystagmus
ORPHA:2707	UBE3B	89910	HP:0000648	Optic atrophy
OMIM:607841	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:615994	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615994	LZTFL1	54585	HP:0000107	Renal cyst
OMIM:615994	LZTFL1	54585	HP:0000007	Autosomal recessive inheritance
OMIM:615994	LZTFL1	54585	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615994	LZTFL1	54585	HP:0100260	Mesoaxial polydactyly
OMIM:615994	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:615994	LZTFL1	54585	HP:0001156	Brachydactyly
OMIM:615994	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615994	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615994	LZTFL1	54585	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	LZTFL1	54585	HP:0001513	Obesity
OMIM:615397	TMEM231	79583	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	TMEM231	79583	HP:0010442	Polydactyly
OMIM:615397	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:615397	TMEM231	79583	HP:0001562	Oligohydramnios
OMIM:615397	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:253220	GUSB	2990	HP:0003311	Hypoplasia of the odontoid process
OMIM:253220	GUSB	2990	HP:0000365	Hearing impairment
OMIM:253220	GUSB	2990	HP:0000470	Short neck
OMIM:253220	GUSB	2990	HP:0000926	Platyspondyly
OMIM:253220	GUSB	2990	HP:0001654	Abnormality of the heart valves
OMIM:253220	GUSB	2990	HP:0000943	Dysostosis multiplex
OMIM:253220	GUSB	2990	HP:0000238	Hydrocephalus
OMIM:253220	GUSB	2990	HP:0001371	Flexion contracture
OMIM:253220	GUSB	2990	HP:0001789	Hydrops fetalis
OMIM:253220	GUSB	2990	HP:0002180	Neurodegeneration
OMIM:253220	GUSB	2990	HP:0003375	Narrow greater sacrosciatic notches
OMIM:253220	GUSB	2990	HP:0000007	Autosomal recessive inheritance
OMIM:253220	GUSB	2990	HP:0006119	Proximal tapering of metacarpals
OMIM:253220	GUSB	2990	HP:0001744	Splenomegaly
OMIM:253220	GUSB	2990	HP:0008301	Dermatan sulfate excretion in urine
OMIM:253220	GUSB	2990	HP:0008430	Anterior beaking of lumbar vertebrae
OMIM:253220	GUSB	2990	HP:0000768	Pectus carinatum
OMIM:253220	GUSB	2990	HP:0001007	Hirsutism
OMIM:253220	GUSB	2990	HP:0000256	Macrocephaly
OMIM:253220	GUSB	2990	HP:0000280	Coarse facial features
OMIM:253220	GUSB	2990	HP:0002680	J-shaped sella turcica
OMIM:253220	GUSB	2990	HP:0003541	Urinary glycosaminoglycan excretion
OMIM:253220	GUSB	2990	HP:0002240	Hepatomegaly
OMIM:253220	GUSB	2990	HP:0004322	Short stature
OMIM:253220	GUSB	2990	HP:0008807	Acetabular dysplasia
OMIM:253220	GUSB	2990	HP:0001840	Metatarsus adductus
OMIM:253220	GUSB	2990	HP:0008897	Postnatal growth retardation
OMIM:253220	GUSB	2990	HP:0001537	Umbilical hernia
OMIM:253220	GUSB	2990	HP:0005619	Thoracolumbar kyphosis
OMIM:253220	GUSB	2990	HP:0007957	Corneal opacity
OMIM:253220	GUSB	2990	HP:0001249	Intellectual disability
OMIM:253220	GUSB	2990	HP:0000023	Inguinal hernia
OMIM:253220	GUSB	2990	HP:0004607	Anterior beaking of lower thoracic vertebrae
OMIM:600116	PRKN	5071	HP:0002172	Postural instability
OMIM:600116	PRKN	5071	HP:0003581	Adult onset
OMIM:600116	PRKN	5071	HP:0001332	Dystonia
OMIM:600116	PRKN	5071	HP:0001337	Tremor
OMIM:600116	PRKN	5071	HP:0001347	Hyperreflexia
OMIM:600116	PRKN	5071	HP:0000007	Autosomal recessive inheritance
OMIM:600116	PRKN	5071	HP:0001288	Gait disturbance
OMIM:600116	PRKN	5071	HP:0002063	Rigidity
OMIM:600116	PRKN	5071	HP:0002067	Bradykinesia
OMIM:600116	PRKN	5071	HP:0011960	Substantia nigra gliosis
OMIM:600116	PRKN	5071	HP:0001300	Parkinsonism
ORPHA:373	GPC3	2719	HP:0000256	Macrocephaly
ORPHA:373	GPC3	2719	HP:0100490	Camptodactyly of finger
ORPHA:373	GPC3	2719	HP:0002240	Hepatomegaly
ORPHA:373	GPC3	2719	HP:0011304	Broad thumb
ORPHA:373	GPC3	2719	HP:0011039	Abnormality of the helix
ORPHA:373	GPC3	2719	HP:0001770	Toe syndactyly
ORPHA:373	GPC3	2719	HP:0000465	Webbed neck
ORPHA:373	GPC3	2719	HP:0009536	Short 2nd finger
ORPHA:373	GPC3	2719	HP:0000772	Abnormality of the ribs
ORPHA:373	GPC3	2719	HP:0000431	Wide nasal bridge
ORPHA:373	GPC3	2719	HP:0001792	Small nail
ORPHA:373	GPC3	2719	HP:0002164	Nail dysplasia
ORPHA:373	GPC3	2719	HP:0001629	Ventricular septal defect
ORPHA:373	GPC3	2719	HP:0002558	Supernumerary nipple
ORPHA:373	GPC3	2719	HP:0001539	Omphalocele
ORPHA:373	GPC3	2719	HP:0001773	Short foot
ORPHA:373	GPC3	2719	HP:0000003	Multicystic kidney dysplasia
ORPHA:373	GPC3	2719	HP:0000303	Mandibular prognathia
ORPHA:373	GPC3	2719	HP:0000494	Downslanted palpebral fissures
ORPHA:373	GPC3	2719	HP:0001537	Umbilical hernia
ORPHA:373	GPC3	2719	HP:0000280	Coarse facial features
ORPHA:373	GPC3	2719	HP:0000126	Hydronephrosis
ORPHA:373	GPC3	2719	HP:0000463	Anteverted nares
ORPHA:373	GPC3	2719	HP:0011710	Bundle branch block
ORPHA:373	GPC3	2719	HP:0000023	Inguinal hernia
ORPHA:373	GPC3	2719	HP:0001561	Polyhydramnios
ORPHA:373	GPC3	2719	HP:0002167	Neurological speech impairment
ORPHA:373	GPC3	2719	HP:0006101	Finger syndactyly
ORPHA:373	GPC3	2719	HP:0000316	Hypertelorism
ORPHA:373	GPC3	2719	HP:0000154	Wide mouth
ORPHA:373	GPC3	2719	HP:0000098	Tall stature
ORPHA:373	GPC3	2719	HP:0001657	Prolonged QT interval
ORPHA:373	GPC3	2719	HP:0003212	Increased IgE level
ORPHA:373	GPC3	2719	HP:0000470	Short neck
ORPHA:373	GPC3	2719	HP:0001522	Death in infancy
ORPHA:373	GPC3	2719	HP:0000767	Pectus excavatum
ORPHA:373	GPC3	2719	HP:0002948	Vertebral fusion
ORPHA:373	GPC3	2719	HP:0001943	Hypoglycemia
ORPHA:373	GPC3	2719	HP:0001769	Broad foot
ORPHA:373	GPC3	2719	HP:0002650	Scoliosis
ORPHA:373	GPC3	2719	HP:0000028	Cryptorchidism
ORPHA:373	GPC3	2719	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:373	GPC3	2719	HP:0004209	Clinodactyly of the 5th finger
ORPHA:373	GPC3	2719	HP:0002705	High, narrow palate
ORPHA:373	GPC3	2719	HP:0001162	Postaxial hand polydactyly
ORPHA:373	GPC3	2719	HP:0001631	Atrial septal defect
ORPHA:373	GPC3	2719	HP:0000158	Macroglossia
ORPHA:373	GPC3	2719	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:373	GPC3	2719	HP:0000073	Ureteral duplication
ORPHA:373	GPC3	2719	HP:0001831	Short toe
ORPHA:373	GPC3	2719	HP:0000072	Hydroureter
ORPHA:373	GPC3	2719	HP:0001744	Splenomegaly
ORPHA:373	GPC3	2719	HP:0003196	Short nose
ORPHA:373	GPC3	2719	HP:0000175	Cleft palate
ORPHA:373	GPC4	2239	HP:0000256	Macrocephaly
ORPHA:373	GPC4	2239	HP:0100490	Camptodactyly of finger
ORPHA:373	GPC4	2239	HP:0002240	Hepatomegaly
ORPHA:373	GPC4	2239	HP:0011304	Broad thumb
ORPHA:373	GPC4	2239	HP:0011039	Abnormality of the helix
ORPHA:373	GPC4	2239	HP:0001770	Toe syndactyly
ORPHA:373	GPC4	2239	HP:0000465	Webbed neck
ORPHA:373	GPC4	2239	HP:0009536	Short 2nd finger
ORPHA:373	GPC4	2239	HP:0000772	Abnormality of the ribs
ORPHA:373	GPC4	2239	HP:0000431	Wide nasal bridge
ORPHA:373	GPC4	2239	HP:0001792	Small nail
ORPHA:373	GPC4	2239	HP:0002164	Nail dysplasia
ORPHA:373	GPC4	2239	HP:0001629	Ventricular septal defect
ORPHA:373	GPC4	2239	HP:0002558	Supernumerary nipple
ORPHA:373	GPC4	2239	HP:0001539	Omphalocele
ORPHA:373	GPC4	2239	HP:0001773	Short foot
ORPHA:373	GPC4	2239	HP:0000003	Multicystic kidney dysplasia
ORPHA:373	GPC4	2239	HP:0000303	Mandibular prognathia
ORPHA:373	GPC4	2239	HP:0000494	Downslanted palpebral fissures
ORPHA:373	GPC4	2239	HP:0001537	Umbilical hernia
ORPHA:373	GPC4	2239	HP:0000280	Coarse facial features
ORPHA:373	GPC4	2239	HP:0000126	Hydronephrosis
ORPHA:373	GPC4	2239	HP:0000463	Anteverted nares
ORPHA:373	GPC4	2239	HP:0011710	Bundle branch block
ORPHA:373	GPC4	2239	HP:0000023	Inguinal hernia
ORPHA:373	GPC4	2239	HP:0001561	Polyhydramnios
ORPHA:373	GPC4	2239	HP:0002167	Neurological speech impairment
ORPHA:373	GPC4	2239	HP:0006101	Finger syndactyly
ORPHA:373	GPC4	2239	HP:0000316	Hypertelorism
ORPHA:373	GPC4	2239	HP:0000154	Wide mouth
ORPHA:373	GPC4	2239	HP:0000098	Tall stature
ORPHA:373	GPC4	2239	HP:0001657	Prolonged QT interval
ORPHA:373	GPC4	2239	HP:0003212	Increased IgE level
ORPHA:373	GPC4	2239	HP:0000470	Short neck
ORPHA:373	GPC4	2239	HP:0001522	Death in infancy
ORPHA:373	GPC4	2239	HP:0000767	Pectus excavatum
ORPHA:373	GPC4	2239	HP:0002948	Vertebral fusion
ORPHA:373	GPC4	2239	HP:0001943	Hypoglycemia
ORPHA:373	GPC4	2239	HP:0001769	Broad foot
ORPHA:373	GPC4	2239	HP:0002650	Scoliosis
ORPHA:373	GPC4	2239	HP:0000028	Cryptorchidism
ORPHA:373	GPC4	2239	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:373	GPC4	2239	HP:0004209	Clinodactyly of the 5th finger
ORPHA:373	GPC4	2239	HP:0002705	High, narrow palate
ORPHA:373	GPC4	2239	HP:0001162	Postaxial hand polydactyly
ORPHA:373	GPC4	2239	HP:0001631	Atrial septal defect
ORPHA:373	GPC4	2239	HP:0000158	Macroglossia
ORPHA:373	GPC4	2239	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:373	GPC4	2239	HP:0000073	Ureteral duplication
ORPHA:373	GPC4	2239	HP:0001831	Short toe
ORPHA:373	GPC4	2239	HP:0000072	Hydroureter
ORPHA:373	GPC4	2239	HP:0001744	Splenomegaly
ORPHA:373	GPC4	2239	HP:0003196	Short nose
ORPHA:373	GPC4	2239	HP:0000175	Cleft palate
ORPHA:168569	SLC29A3	55315	HP:0008734	Decreased testicular size
ORPHA:168569	SLC29A3	55315	HP:0001433	Hepatosplenomegaly
ORPHA:168569	SLC29A3	55315	HP:0004322	Short stature
ORPHA:168569	SLC29A3	55315	HP:0100324	Scleroderma
ORPHA:168569	SLC29A3	55315	HP:0012385	Camptodactyly
ORPHA:168569	SLC29A3	55315	HP:0100727	Histiocytosis
ORPHA:168569	SLC29A3	55315	HP:0000953	Hyperpigmentation of the skin
ORPHA:168569	SLC29A3	55315	HP:0030053	Stiff skin
ORPHA:168569	SLC29A3	55315	HP:0000998	Hypertrichosis
ORPHA:168569	SLC29A3	55315	HP:0000823	Delayed puberty
ORPHA:168569	SLC29A3	55315	HP:0000365	Hearing impairment
ORPHA:168569	SLC29A3	55315	HP:0002716	Lymphadenopathy
OMIM:251110	MMAB	326625	HP:0001254	Lethargy
OMIM:251110	MMAB	326625	HP:0001263	Global developmental delay
OMIM:251110	MMAB	326625	HP:0002240	Hepatomegaly
OMIM:251110	MMAB	326625	HP:0002013	Vomiting
OMIM:251110	MMAB	326625	HP:0001944	Dehydration
OMIM:251110	MMAB	326625	HP:0001946	Ketosis
OMIM:251110	MMAB	326625	HP:0001259	Coma
OMIM:251110	MMAB	326625	HP:0001903	Anemia
OMIM:251110	MMAB	326625	HP:0012120	Methylmalonic aciduria
OMIM:251110	MMAB	326625	HP:0001876	Pancytopenia
OMIM:251110	MMAB	326625	HP:0003210	Decreased methylmalonyl-CoA mutase activity
OMIM:251110	MMAB	326625	HP:0001873	Thrombocytopenia
OMIM:251110	MMAB	326625	HP:0001290	Generalized hypotonia
OMIM:251110	MMAB	326625	HP:0003145	Decreased adenosylcobalamin
OMIM:251110	MMAB	326625	HP:0003623	Neonatal onset
OMIM:251110	MMAB	326625	HP:0001875	Neutropenia
OMIM:251110	MMAB	326625	HP:0001987	Hyperammonemia
OMIM:251110	MMAB	326625	HP:0000007	Autosomal recessive inheritance
OMIM:251110	MMAB	326625	HP:0002912	Methylmalonic acidemia
OMIM:251110	MMAB	326625	HP:0001508	Failure to thrive
OMIM:251110	MMAB	326625	HP:0002098	Respiratory distress
OMIM:251110	MMAB	326625	HP:0001942	Metabolic acidosis
OMIM:251110	MMAB	326625	HP:0008872	Feeding difficulties in infancy
OMIM:251110	MMAB	326625	HP:0002919	Ketonuria
OMIM:251110	MMAB	326625	HP:0002154	Hyperglycinemia
OMIM:602433	SETX	23064	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602433	SETX	23064	HP:0002398	Degeneration of anterior horn cells
OMIM:602433	SETX	23064	HP:0001761	Pes cavus
OMIM:602433	SETX	23064	HP:0003487	Babinski sign
OMIM:602433	SETX	23064	HP:0006825	Pallor of dorsal columns of the spinal cord
OMIM:602433	SETX	23064	HP:0002460	Distal muscle weakness
OMIM:602433	SETX	23064	HP:0003677	Slow progression
OMIM:602433	SETX	23064	HP:0003405	Diffuse axonal swelling
OMIM:602433	SETX	23064	HP:0001347	Hyperreflexia
OMIM:602433	SETX	23064	HP:0040078	Axonal degeneration
OMIM:602433	SETX	23064	HP:0002355	Difficulty walking
OMIM:602433	SETX	23064	HP:0002127	Abnormal upper motor neuron morphology
OMIM:602433	SETX	23064	HP:0000006	Autosomal dominant inheritance
OMIM:602433	SETX	23064	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:559	INPP5K	51763	HP:0000518	Cataract
ORPHA:559	INPP5K	51763	HP:0001252	Muscular hypotonia
ORPHA:559	INPP5K	51763	HP:0002650	Scoliosis
ORPHA:559	INPP5K	51763	HP:0003202	Skeletal muscle atrophy
ORPHA:559	INPP5K	51763	HP:0005743	Avascular necrosis of the capital femoral epiphysis
ORPHA:559	INPP5K	51763	HP:0001251	Ataxia
ORPHA:559	INPP5K	51763	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:559	INPP5K	51763	HP:0001249	Intellectual disability
ORPHA:559	INPP5K	51763	HP:0001321	Cerebellar hypoplasia
ORPHA:559	INPP5K	51763	HP:0002827	Hip dislocation
ORPHA:559	INPP5K	51763	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:559	INPP5K	51763	HP:0001163	Abnormality of the metacarpal bones
ORPHA:559	INPP5K	51763	HP:0001156	Brachydactyly
ORPHA:559	INPP5K	51763	HP:0001257	Spasticity
ORPHA:559	INPP5K	51763	HP:0004279	Short palm
ORPHA:559	INPP5K	51763	HP:0000639	Nystagmus
ORPHA:559	INPP5K	51763	HP:0002334	Abnormality of the cerebellar vermis
ORPHA:559	INPP5K	51763	HP:0003510	Severe short stature
ORPHA:559	INPP5K	51763	HP:0100660	Dyskinesia
ORPHA:559	INPP5K	51763	HP:0000135	Hypogonadism
ORPHA:559	INPP5K	51763	HP:0002673	Coxa valga
ORPHA:559	INPP5K	51763	HP:0001167	Abnormality of finger
ORPHA:559	INPP5K	51763	HP:0003241	External genital hypoplasia
ORPHA:559	INPP5K	51763	HP:0012400	Abnormal aldolase level
ORPHA:559	INPP5K	51763	HP:0000486	Strabismus
ORPHA:559	INPP5K	51763	HP:0003560	Muscular dystrophy
ORPHA:559	INPP5K	51763	HP:0003198	Myopathy
ORPHA:559	INPP5K	51763	HP:0010547	Muscle flaccidity
ORPHA:559	INPP5K	51763	HP:0002063	Rigidity
ORPHA:559	INPP5K	51763	HP:0001328	Specific learning disability
ORPHA:559	INPP5K	51763	HP:0001263	Global developmental delay
ORPHA:559	INPP5K	51763	HP:0001618	Dysphonia
ORPHA:559	INPP5K	51763	HP:0003552	Muscle stiffness
ORPHA:559	INPP5K	51763	HP:0010508	Metatarsus valgus
ORPHA:559	INPP5K	51763	HP:0000768	Pectus carinatum
ORPHA:559	INPP5K	51763	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:559	INPP5K	51763	HP:0001385	Hip dysplasia
ORPHA:559	INPP5K	51763	HP:0001260	Dysarthria
ORPHA:559	SIL1	64374	HP:0000518	Cataract
ORPHA:559	SIL1	64374	HP:0001252	Muscular hypotonia
ORPHA:559	SIL1	64374	HP:0002650	Scoliosis
ORPHA:559	SIL1	64374	HP:0003202	Skeletal muscle atrophy
ORPHA:559	SIL1	64374	HP:0005743	Avascular necrosis of the capital femoral epiphysis
ORPHA:559	SIL1	64374	HP:0001251	Ataxia
ORPHA:559	SIL1	64374	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:559	SIL1	64374	HP:0001249	Intellectual disability
ORPHA:559	SIL1	64374	HP:0001321	Cerebellar hypoplasia
ORPHA:559	SIL1	64374	HP:0002827	Hip dislocation
ORPHA:559	SIL1	64374	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:559	SIL1	64374	HP:0001163	Abnormality of the metacarpal bones
ORPHA:559	SIL1	64374	HP:0001156	Brachydactyly
ORPHA:559	SIL1	64374	HP:0001257	Spasticity
ORPHA:559	SIL1	64374	HP:0004279	Short palm
ORPHA:559	SIL1	64374	HP:0000639	Nystagmus
ORPHA:559	SIL1	64374	HP:0002334	Abnormality of the cerebellar vermis
ORPHA:559	SIL1	64374	HP:0003510	Severe short stature
ORPHA:559	SIL1	64374	HP:0100660	Dyskinesia
ORPHA:559	SIL1	64374	HP:0000135	Hypogonadism
ORPHA:559	SIL1	64374	HP:0002673	Coxa valga
ORPHA:559	SIL1	64374	HP:0001167	Abnormality of finger
ORPHA:559	SIL1	64374	HP:0003241	External genital hypoplasia
ORPHA:559	SIL1	64374	HP:0012400	Abnormal aldolase level
ORPHA:559	SIL1	64374	HP:0000486	Strabismus
ORPHA:559	SIL1	64374	HP:0003560	Muscular dystrophy
ORPHA:559	SIL1	64374	HP:0003198	Myopathy
ORPHA:559	SIL1	64374	HP:0010547	Muscle flaccidity
ORPHA:559	SIL1	64374	HP:0002063	Rigidity
ORPHA:559	SIL1	64374	HP:0001328	Specific learning disability
ORPHA:559	SIL1	64374	HP:0001263	Global developmental delay
ORPHA:559	SIL1	64374	HP:0001618	Dysphonia
ORPHA:559	SIL1	64374	HP:0003552	Muscle stiffness
ORPHA:559	SIL1	64374	HP:0010508	Metatarsus valgus
ORPHA:559	SIL1	64374	HP:0000768	Pectus carinatum
ORPHA:559	SIL1	64374	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:559	SIL1	64374	HP:0001385	Hip dysplasia
ORPHA:559	SIL1	64374	HP:0001260	Dysarthria
OMIM:176270	MKRN3	7681	HP:0000540	Hypermetropia
OMIM:176270	MKRN3	7681	HP:0030084	Clinodactyly
OMIM:176270	MKRN3	7681	HP:0000750	Delayed speech and language development
OMIM:176270	MKRN3	7681	HP:0004322	Short stature
OMIM:176270	MKRN3	7681	HP:0002205	Recurrent respiratory infections
OMIM:176270	MKRN3	7681	HP:0004279	Short palm
OMIM:176270	MKRN3	7681	HP:0000842	Hyperinsulinemia
OMIM:176270	MKRN3	7681	HP:0007328	Impaired pain sensation
OMIM:176270	MKRN3	7681	HP:0003745	Sporadic
OMIM:176270	MKRN3	7681	HP:0007015	Poor gross motor coordination
OMIM:176270	MKRN3	7681	HP:0000060	Clitoral hypoplasia
OMIM:176270	MKRN3	7681	HP:0004283	Narrow palm
OMIM:176270	MKRN3	7681	HP:0001328	Specific learning disability
OMIM:176270	MKRN3	7681	HP:0002808	Kyphosis
OMIM:176270	MKRN3	7681	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	MKRN3	7681	HP:0010535	Sleep apnea
OMIM:176270	MKRN3	7681	HP:0000268	Dolichocephaly
OMIM:176270	MKRN3	7681	HP:0000824	Growth hormone deficiency
OMIM:176270	MKRN3	7681	HP:0000876	Oligomenorrhea
OMIM:176270	MKRN3	7681	HP:0003199	Decreased muscle mass
OMIM:176270	MKRN3	7681	HP:0000341	Narrow forehead
OMIM:176270	MKRN3	7681	HP:0001611	Nasal speech
OMIM:176270	MKRN3	7681	HP:0000446	Narrow nasal bridge
OMIM:176270	MKRN3	7681	HP:0002119	Ventriculomegaly
OMIM:176270	MKRN3	7681	HP:0000219	Thin upper lip vermilion
OMIM:176270	MKRN3	7681	HP:0000064	Hypoplastic labia minora
OMIM:176270	MKRN3	7681	HP:0001263	Global developmental delay
OMIM:176270	MKRN3	7681	HP:0001558	Decreased fetal movement
OMIM:176270	MKRN3	7681	HP:0000823	Delayed puberty
OMIM:176270	MKRN3	7681	HP:0000054	Micropenis
OMIM:176270	MKRN3	7681	HP:0001773	Short foot
OMIM:176270	MKRN3	7681	HP:0007513	Generalized hypopigmentation
OMIM:176270	MKRN3	7681	HP:0001290	Generalized hypotonia
OMIM:176270	MKRN3	7681	HP:0000789	Infertility
OMIM:176270	MKRN3	7681	HP:0000992	Cutaneous photosensitivity
OMIM:176270	MKRN3	7681	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	MKRN3	7681	HP:0002714	Downturned corners of mouth
OMIM:176270	MKRN3	7681	HP:0001513	Obesity
OMIM:176270	MKRN3	7681	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	MKRN3	7681	HP:0002591	Polyphagia
OMIM:176270	MKRN3	7681	HP:0001270	Motor delay
OMIM:176270	MKRN3	7681	HP:0012743	Abdominal obesity
OMIM:176270	MKRN3	7681	HP:0001531	Failure to thrive in infancy
OMIM:176270	MKRN3	7681	HP:0002033	Poor suck
OMIM:176270	MKRN3	7681	HP:0002791	Hypoventilation
OMIM:176270	MKRN3	7681	HP:0200055	Small hand
OMIM:176270	MKRN3	7681	HP:0002650	Scoliosis
OMIM:176270	SNORD116-1	100033413	HP:0000540	Hypermetropia
OMIM:176270	SNORD116-1	100033413	HP:0030084	Clinodactyly
OMIM:176270	SNORD116-1	100033413	HP:0000750	Delayed speech and language development
OMIM:176270	SNORD116-1	100033413	HP:0004322	Short stature
OMIM:176270	SNORD116-1	100033413	HP:0002205	Recurrent respiratory infections
OMIM:176270	SNORD116-1	100033413	HP:0004279	Short palm
OMIM:176270	SNORD116-1	100033413	HP:0000842	Hyperinsulinemia
OMIM:176270	SNORD116-1	100033413	HP:0007328	Impaired pain sensation
OMIM:176270	SNORD116-1	100033413	HP:0003745	Sporadic
OMIM:176270	SNORD116-1	100033413	HP:0007015	Poor gross motor coordination
OMIM:176270	SNORD116-1	100033413	HP:0000060	Clitoral hypoplasia
OMIM:176270	SNORD116-1	100033413	HP:0004283	Narrow palm
OMIM:176270	SNORD116-1	100033413	HP:0001328	Specific learning disability
OMIM:176270	SNORD116-1	100033413	HP:0002808	Kyphosis
OMIM:176270	SNORD116-1	100033413	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	SNORD116-1	100033413	HP:0010535	Sleep apnea
OMIM:176270	SNORD116-1	100033413	HP:0000268	Dolichocephaly
OMIM:176270	SNORD116-1	100033413	HP:0000824	Growth hormone deficiency
OMIM:176270	SNORD116-1	100033413	HP:0000876	Oligomenorrhea
OMIM:176270	SNORD116-1	100033413	HP:0003199	Decreased muscle mass
OMIM:176270	SNORD116-1	100033413	HP:0000341	Narrow forehead
OMIM:176270	SNORD116-1	100033413	HP:0001611	Nasal speech
OMIM:176270	SNORD116-1	100033413	HP:0000446	Narrow nasal bridge
OMIM:176270	SNORD116-1	100033413	HP:0002119	Ventriculomegaly
OMIM:176270	SNORD116-1	100033413	HP:0000219	Thin upper lip vermilion
OMIM:176270	SNORD116-1	100033413	HP:0000064	Hypoplastic labia minora
OMIM:176270	SNORD116-1	100033413	HP:0001263	Global developmental delay
OMIM:176270	SNORD116-1	100033413	HP:0001558	Decreased fetal movement
OMIM:176270	SNORD116-1	100033413	HP:0000823	Delayed puberty
OMIM:176270	SNORD116-1	100033413	HP:0000054	Micropenis
OMIM:176270	SNORD116-1	100033413	HP:0001773	Short foot
OMIM:176270	SNORD116-1	100033413	HP:0007513	Generalized hypopigmentation
OMIM:176270	SNORD116-1	100033413	HP:0001290	Generalized hypotonia
OMIM:176270	SNORD116-1	100033413	HP:0000789	Infertility
OMIM:176270	SNORD116-1	100033413	HP:0000992	Cutaneous photosensitivity
OMIM:176270	SNORD116-1	100033413	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	SNORD116-1	100033413	HP:0002714	Downturned corners of mouth
OMIM:176270	SNORD116-1	100033413	HP:0001513	Obesity
OMIM:176270	SNORD116-1	100033413	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	SNORD116-1	100033413	HP:0002591	Polyphagia
OMIM:176270	SNORD116-1	100033413	HP:0001270	Motor delay
OMIM:176270	SNORD116-1	100033413	HP:0012743	Abdominal obesity
OMIM:176270	SNORD116-1	100033413	HP:0001531	Failure to thrive in infancy
OMIM:176270	SNORD116-1	100033413	HP:0002033	Poor suck
OMIM:176270	SNORD116-1	100033413	HP:0002791	Hypoventilation
OMIM:176270	SNORD116-1	100033413	HP:0200055	Small hand
OMIM:176270	SNORD116-1	100033413	HP:0002650	Scoliosis
OMIM:176270	SNORD115-1	338433	HP:0000540	Hypermetropia
OMIM:176270	SNORD115-1	338433	HP:0030084	Clinodactyly
OMIM:176270	SNORD115-1	338433	HP:0000750	Delayed speech and language development
OMIM:176270	SNORD115-1	338433	HP:0004322	Short stature
OMIM:176270	SNORD115-1	338433	HP:0002205	Recurrent respiratory infections
OMIM:176270	SNORD115-1	338433	HP:0004279	Short palm
OMIM:176270	SNORD115-1	338433	HP:0000842	Hyperinsulinemia
OMIM:176270	SNORD115-1	338433	HP:0007328	Impaired pain sensation
OMIM:176270	SNORD115-1	338433	HP:0003745	Sporadic
OMIM:176270	SNORD115-1	338433	HP:0007015	Poor gross motor coordination
OMIM:176270	SNORD115-1	338433	HP:0000060	Clitoral hypoplasia
OMIM:176270	SNORD115-1	338433	HP:0004283	Narrow palm
OMIM:176270	SNORD115-1	338433	HP:0001328	Specific learning disability
OMIM:176270	SNORD115-1	338433	HP:0002808	Kyphosis
OMIM:176270	SNORD115-1	338433	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	SNORD115-1	338433	HP:0010535	Sleep apnea
OMIM:176270	SNORD115-1	338433	HP:0000268	Dolichocephaly
OMIM:176270	SNORD115-1	338433	HP:0000824	Growth hormone deficiency
OMIM:176270	SNORD115-1	338433	HP:0000876	Oligomenorrhea
OMIM:176270	SNORD115-1	338433	HP:0003199	Decreased muscle mass
OMIM:176270	SNORD115-1	338433	HP:0000341	Narrow forehead
OMIM:176270	SNORD115-1	338433	HP:0001611	Nasal speech
OMIM:176270	SNORD115-1	338433	HP:0000446	Narrow nasal bridge
OMIM:176270	SNORD115-1	338433	HP:0002119	Ventriculomegaly
OMIM:176270	SNORD115-1	338433	HP:0000219	Thin upper lip vermilion
OMIM:176270	SNORD115-1	338433	HP:0000064	Hypoplastic labia minora
OMIM:176270	SNORD115-1	338433	HP:0001263	Global developmental delay
OMIM:176270	SNORD115-1	338433	HP:0001558	Decreased fetal movement
OMIM:176270	SNORD115-1	338433	HP:0000823	Delayed puberty
OMIM:176270	SNORD115-1	338433	HP:0000054	Micropenis
OMIM:176270	SNORD115-1	338433	HP:0001773	Short foot
OMIM:176270	SNORD115-1	338433	HP:0007513	Generalized hypopigmentation
OMIM:176270	SNORD115-1	338433	HP:0001290	Generalized hypotonia
OMIM:176270	SNORD115-1	338433	HP:0000789	Infertility
OMIM:176270	SNORD115-1	338433	HP:0000992	Cutaneous photosensitivity
OMIM:176270	SNORD115-1	338433	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	SNORD115-1	338433	HP:0002714	Downturned corners of mouth
OMIM:176270	SNORD115-1	338433	HP:0001513	Obesity
OMIM:176270	SNORD115-1	338433	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	SNORD115-1	338433	HP:0002591	Polyphagia
OMIM:176270	SNORD115-1	338433	HP:0001270	Motor delay
OMIM:176270	SNORD115-1	338433	HP:0012743	Abdominal obesity
OMIM:176270	SNORD115-1	338433	HP:0001531	Failure to thrive in infancy
OMIM:176270	SNORD115-1	338433	HP:0002033	Poor suck
OMIM:176270	SNORD115-1	338433	HP:0002791	Hypoventilation
OMIM:176270	SNORD115-1	338433	HP:0200055	Small hand
OMIM:176270	SNORD115-1	338433	HP:0002650	Scoliosis
OMIM:176270	NDN	4692	HP:0000540	Hypermetropia
OMIM:176270	NDN	4692	HP:0030084	Clinodactyly
OMIM:176270	NDN	4692	HP:0000750	Delayed speech and language development
OMIM:176270	NDN	4692	HP:0004322	Short stature
OMIM:176270	NDN	4692	HP:0002205	Recurrent respiratory infections
OMIM:176270	NDN	4692	HP:0004279	Short palm
OMIM:176270	NDN	4692	HP:0000842	Hyperinsulinemia
OMIM:176270	NDN	4692	HP:0007328	Impaired pain sensation
OMIM:176270	NDN	4692	HP:0003745	Sporadic
OMIM:176270	NDN	4692	HP:0007015	Poor gross motor coordination
OMIM:176270	NDN	4692	HP:0000060	Clitoral hypoplasia
OMIM:176270	NDN	4692	HP:0004283	Narrow palm
OMIM:176270	NDN	4692	HP:0001328	Specific learning disability
OMIM:176270	NDN	4692	HP:0002808	Kyphosis
OMIM:176270	NDN	4692	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	NDN	4692	HP:0010535	Sleep apnea
OMIM:176270	NDN	4692	HP:0000268	Dolichocephaly
OMIM:176270	NDN	4692	HP:0000824	Growth hormone deficiency
OMIM:176270	NDN	4692	HP:0000876	Oligomenorrhea
OMIM:176270	NDN	4692	HP:0003199	Decreased muscle mass
OMIM:176270	NDN	4692	HP:0000341	Narrow forehead
OMIM:176270	NDN	4692	HP:0001611	Nasal speech
OMIM:176270	NDN	4692	HP:0000446	Narrow nasal bridge
OMIM:176270	NDN	4692	HP:0002119	Ventriculomegaly
OMIM:176270	NDN	4692	HP:0000219	Thin upper lip vermilion
OMIM:176270	NDN	4692	HP:0000064	Hypoplastic labia minora
OMIM:176270	NDN	4692	HP:0001263	Global developmental delay
OMIM:176270	NDN	4692	HP:0001558	Decreased fetal movement
OMIM:176270	NDN	4692	HP:0000823	Delayed puberty
OMIM:176270	NDN	4692	HP:0000054	Micropenis
OMIM:176270	NDN	4692	HP:0001773	Short foot
OMIM:176270	NDN	4692	HP:0007513	Generalized hypopigmentation
OMIM:176270	NDN	4692	HP:0001290	Generalized hypotonia
OMIM:176270	NDN	4692	HP:0000789	Infertility
OMIM:176270	NDN	4692	HP:0000992	Cutaneous photosensitivity
OMIM:176270	NDN	4692	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	NDN	4692	HP:0002714	Downturned corners of mouth
OMIM:176270	NDN	4692	HP:0001513	Obesity
OMIM:176270	NDN	4692	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	NDN	4692	HP:0002591	Polyphagia
OMIM:176270	NDN	4692	HP:0001270	Motor delay
OMIM:176270	NDN	4692	HP:0012743	Abdominal obesity
OMIM:176270	NDN	4692	HP:0001531	Failure to thrive in infancy
OMIM:176270	NDN	4692	HP:0002033	Poor suck
OMIM:176270	NDN	4692	HP:0002791	Hypoventilation
OMIM:176270	NDN	4692	HP:0200055	Small hand
OMIM:176270	NDN	4692	HP:0002650	Scoliosis
OMIM:176270	IPW	3653	HP:0000540	Hypermetropia
OMIM:176270	IPW	3653	HP:0030084	Clinodactyly
OMIM:176270	IPW	3653	HP:0000750	Delayed speech and language development
OMIM:176270	IPW	3653	HP:0004322	Short stature
OMIM:176270	IPW	3653	HP:0002205	Recurrent respiratory infections
OMIM:176270	IPW	3653	HP:0004279	Short palm
OMIM:176270	IPW	3653	HP:0000842	Hyperinsulinemia
OMIM:176270	IPW	3653	HP:0007328	Impaired pain sensation
OMIM:176270	IPW	3653	HP:0003745	Sporadic
OMIM:176270	IPW	3653	HP:0007015	Poor gross motor coordination
OMIM:176270	IPW	3653	HP:0000060	Clitoral hypoplasia
OMIM:176270	IPW	3653	HP:0004283	Narrow palm
OMIM:176270	IPW	3653	HP:0001328	Specific learning disability
OMIM:176270	IPW	3653	HP:0002808	Kyphosis
OMIM:176270	IPW	3653	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	IPW	3653	HP:0010535	Sleep apnea
OMIM:176270	IPW	3653	HP:0000268	Dolichocephaly
OMIM:176270	IPW	3653	HP:0000824	Growth hormone deficiency
OMIM:176270	IPW	3653	HP:0000876	Oligomenorrhea
OMIM:176270	IPW	3653	HP:0003199	Decreased muscle mass
OMIM:176270	IPW	3653	HP:0000341	Narrow forehead
OMIM:176270	IPW	3653	HP:0001611	Nasal speech
OMIM:176270	IPW	3653	HP:0000446	Narrow nasal bridge
OMIM:176270	IPW	3653	HP:0002119	Ventriculomegaly
OMIM:176270	IPW	3653	HP:0000219	Thin upper lip vermilion
OMIM:176270	IPW	3653	HP:0000064	Hypoplastic labia minora
OMIM:176270	IPW	3653	HP:0001263	Global developmental delay
OMIM:176270	IPW	3653	HP:0001558	Decreased fetal movement
OMIM:176270	IPW	3653	HP:0000823	Delayed puberty
OMIM:176270	IPW	3653	HP:0000054	Micropenis
OMIM:176270	IPW	3653	HP:0001773	Short foot
OMIM:176270	IPW	3653	HP:0007513	Generalized hypopigmentation
OMIM:176270	IPW	3653	HP:0001290	Generalized hypotonia
OMIM:176270	IPW	3653	HP:0000789	Infertility
OMIM:176270	IPW	3653	HP:0000992	Cutaneous photosensitivity
OMIM:176270	IPW	3653	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	IPW	3653	HP:0002714	Downturned corners of mouth
OMIM:176270	IPW	3653	HP:0001513	Obesity
OMIM:176270	IPW	3653	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	IPW	3653	HP:0002591	Polyphagia
OMIM:176270	IPW	3653	HP:0001270	Motor delay
OMIM:176270	IPW	3653	HP:0012743	Abdominal obesity
OMIM:176270	IPW	3653	HP:0001531	Failure to thrive in infancy
OMIM:176270	IPW	3653	HP:0002033	Poor suck
OMIM:176270	IPW	3653	HP:0002791	Hypoventilation
OMIM:176270	IPW	3653	HP:0200055	Small hand
OMIM:176270	IPW	3653	HP:0002650	Scoliosis
OMIM:176270	PWRN1	791114	HP:0000540	Hypermetropia
OMIM:176270	PWRN1	791114	HP:0030084	Clinodactyly
OMIM:176270	PWRN1	791114	HP:0000750	Delayed speech and language development
OMIM:176270	PWRN1	791114	HP:0004322	Short stature
OMIM:176270	PWRN1	791114	HP:0002205	Recurrent respiratory infections
OMIM:176270	PWRN1	791114	HP:0004279	Short palm
OMIM:176270	PWRN1	791114	HP:0000842	Hyperinsulinemia
OMIM:176270	PWRN1	791114	HP:0007328	Impaired pain sensation
OMIM:176270	PWRN1	791114	HP:0003745	Sporadic
OMIM:176270	PWRN1	791114	HP:0007015	Poor gross motor coordination
OMIM:176270	PWRN1	791114	HP:0000060	Clitoral hypoplasia
OMIM:176270	PWRN1	791114	HP:0004283	Narrow palm
OMIM:176270	PWRN1	791114	HP:0001328	Specific learning disability
OMIM:176270	PWRN1	791114	HP:0002808	Kyphosis
OMIM:176270	PWRN1	791114	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	PWRN1	791114	HP:0010535	Sleep apnea
OMIM:176270	PWRN1	791114	HP:0000268	Dolichocephaly
OMIM:176270	PWRN1	791114	HP:0000824	Growth hormone deficiency
OMIM:176270	PWRN1	791114	HP:0000876	Oligomenorrhea
OMIM:176270	PWRN1	791114	HP:0003199	Decreased muscle mass
OMIM:176270	PWRN1	791114	HP:0000341	Narrow forehead
OMIM:176270	PWRN1	791114	HP:0001611	Nasal speech
OMIM:176270	PWRN1	791114	HP:0000446	Narrow nasal bridge
OMIM:176270	PWRN1	791114	HP:0002119	Ventriculomegaly
OMIM:176270	PWRN1	791114	HP:0000219	Thin upper lip vermilion
OMIM:176270	PWRN1	791114	HP:0000064	Hypoplastic labia minora
OMIM:176270	PWRN1	791114	HP:0001263	Global developmental delay
OMIM:176270	PWRN1	791114	HP:0001558	Decreased fetal movement
OMIM:176270	PWRN1	791114	HP:0000823	Delayed puberty
OMIM:176270	PWRN1	791114	HP:0000054	Micropenis
OMIM:176270	PWRN1	791114	HP:0001773	Short foot
OMIM:176270	PWRN1	791114	HP:0007513	Generalized hypopigmentation
OMIM:176270	PWRN1	791114	HP:0001290	Generalized hypotonia
OMIM:176270	PWRN1	791114	HP:0000789	Infertility
OMIM:176270	PWRN1	791114	HP:0000992	Cutaneous photosensitivity
OMIM:176270	PWRN1	791114	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	PWRN1	791114	HP:0002714	Downturned corners of mouth
OMIM:176270	PWRN1	791114	HP:0001513	Obesity
OMIM:176270	PWRN1	791114	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	PWRN1	791114	HP:0002591	Polyphagia
OMIM:176270	PWRN1	791114	HP:0001270	Motor delay
OMIM:176270	PWRN1	791114	HP:0012743	Abdominal obesity
OMIM:176270	PWRN1	791114	HP:0001531	Failure to thrive in infancy
OMIM:176270	PWRN1	791114	HP:0002033	Poor suck
OMIM:176270	PWRN1	791114	HP:0002791	Hypoventilation
OMIM:176270	PWRN1	791114	HP:0200055	Small hand
OMIM:176270	PWRN1	791114	HP:0002650	Scoliosis
OMIM:176270	MAGEL2	54551	HP:0000540	Hypermetropia
OMIM:176270	MAGEL2	54551	HP:0030084	Clinodactyly
OMIM:176270	MAGEL2	54551	HP:0000750	Delayed speech and language development
OMIM:176270	MAGEL2	54551	HP:0004322	Short stature
OMIM:176270	MAGEL2	54551	HP:0002205	Recurrent respiratory infections
OMIM:176270	MAGEL2	54551	HP:0004279	Short palm
OMIM:176270	MAGEL2	54551	HP:0000842	Hyperinsulinemia
OMIM:176270	MAGEL2	54551	HP:0007328	Impaired pain sensation
OMIM:176270	MAGEL2	54551	HP:0003745	Sporadic
OMIM:176270	MAGEL2	54551	HP:0007015	Poor gross motor coordination
OMIM:176270	MAGEL2	54551	HP:0000060	Clitoral hypoplasia
OMIM:176270	MAGEL2	54551	HP:0004283	Narrow palm
OMIM:176270	MAGEL2	54551	HP:0001328	Specific learning disability
OMIM:176270	MAGEL2	54551	HP:0002808	Kyphosis
OMIM:176270	MAGEL2	54551	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	MAGEL2	54551	HP:0010535	Sleep apnea
OMIM:176270	MAGEL2	54551	HP:0000268	Dolichocephaly
OMIM:176270	MAGEL2	54551	HP:0000824	Growth hormone deficiency
OMIM:176270	MAGEL2	54551	HP:0000876	Oligomenorrhea
OMIM:176270	MAGEL2	54551	HP:0003199	Decreased muscle mass
OMIM:176270	MAGEL2	54551	HP:0000341	Narrow forehead
OMIM:176270	MAGEL2	54551	HP:0001611	Nasal speech
OMIM:176270	MAGEL2	54551	HP:0000446	Narrow nasal bridge
OMIM:176270	MAGEL2	54551	HP:0002119	Ventriculomegaly
OMIM:176270	MAGEL2	54551	HP:0000219	Thin upper lip vermilion
OMIM:176270	MAGEL2	54551	HP:0000064	Hypoplastic labia minora
OMIM:176270	MAGEL2	54551	HP:0001263	Global developmental delay
OMIM:176270	MAGEL2	54551	HP:0001558	Decreased fetal movement
OMIM:176270	MAGEL2	54551	HP:0000823	Delayed puberty
OMIM:176270	MAGEL2	54551	HP:0000054	Micropenis
OMIM:176270	MAGEL2	54551	HP:0001773	Short foot
OMIM:176270	MAGEL2	54551	HP:0007513	Generalized hypopigmentation
OMIM:176270	MAGEL2	54551	HP:0001290	Generalized hypotonia
OMIM:176270	MAGEL2	54551	HP:0000789	Infertility
OMIM:176270	MAGEL2	54551	HP:0000992	Cutaneous photosensitivity
OMIM:176270	MAGEL2	54551	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	MAGEL2	54551	HP:0002714	Downturned corners of mouth
OMIM:176270	MAGEL2	54551	HP:0001513	Obesity
OMIM:176270	MAGEL2	54551	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	MAGEL2	54551	HP:0002591	Polyphagia
OMIM:176270	MAGEL2	54551	HP:0001270	Motor delay
OMIM:176270	MAGEL2	54551	HP:0012743	Abdominal obesity
OMIM:176270	MAGEL2	54551	HP:0001531	Failure to thrive in infancy
OMIM:176270	MAGEL2	54551	HP:0002033	Poor suck
OMIM:176270	MAGEL2	54551	HP:0002791	Hypoventilation
OMIM:176270	MAGEL2	54551	HP:0200055	Small hand
OMIM:176270	MAGEL2	54551	HP:0002650	Scoliosis
OMIM:176270	PWAR1	145624	HP:0000540	Hypermetropia
OMIM:176270	PWAR1	145624	HP:0030084	Clinodactyly
OMIM:176270	PWAR1	145624	HP:0000750	Delayed speech and language development
OMIM:176270	PWAR1	145624	HP:0004322	Short stature
OMIM:176270	PWAR1	145624	HP:0002205	Recurrent respiratory infections
OMIM:176270	PWAR1	145624	HP:0004279	Short palm
OMIM:176270	PWAR1	145624	HP:0000842	Hyperinsulinemia
OMIM:176270	PWAR1	145624	HP:0007328	Impaired pain sensation
OMIM:176270	PWAR1	145624	HP:0003745	Sporadic
OMIM:176270	PWAR1	145624	HP:0007015	Poor gross motor coordination
OMIM:176270	PWAR1	145624	HP:0000060	Clitoral hypoplasia
OMIM:176270	PWAR1	145624	HP:0004283	Narrow palm
OMIM:176270	PWAR1	145624	HP:0001328	Specific learning disability
OMIM:176270	PWAR1	145624	HP:0002808	Kyphosis
OMIM:176270	PWAR1	145624	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	PWAR1	145624	HP:0010535	Sleep apnea
OMIM:176270	PWAR1	145624	HP:0000268	Dolichocephaly
OMIM:176270	PWAR1	145624	HP:0000824	Growth hormone deficiency
OMIM:176270	PWAR1	145624	HP:0000876	Oligomenorrhea
OMIM:176270	PWAR1	145624	HP:0003199	Decreased muscle mass
OMIM:176270	PWAR1	145624	HP:0000341	Narrow forehead
OMIM:176270	PWAR1	145624	HP:0001611	Nasal speech
OMIM:176270	PWAR1	145624	HP:0000446	Narrow nasal bridge
OMIM:176270	PWAR1	145624	HP:0002119	Ventriculomegaly
OMIM:176270	PWAR1	145624	HP:0000219	Thin upper lip vermilion
OMIM:176270	PWAR1	145624	HP:0000064	Hypoplastic labia minora
OMIM:176270	PWAR1	145624	HP:0001263	Global developmental delay
OMIM:176270	PWAR1	145624	HP:0001558	Decreased fetal movement
OMIM:176270	PWAR1	145624	HP:0000823	Delayed puberty
OMIM:176270	PWAR1	145624	HP:0000054	Micropenis
OMIM:176270	PWAR1	145624	HP:0001773	Short foot
OMIM:176270	PWAR1	145624	HP:0007513	Generalized hypopigmentation
OMIM:176270	PWAR1	145624	HP:0001290	Generalized hypotonia
OMIM:176270	PWAR1	145624	HP:0000789	Infertility
OMIM:176270	PWAR1	145624	HP:0000992	Cutaneous photosensitivity
OMIM:176270	PWAR1	145624	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	PWAR1	145624	HP:0002714	Downturned corners of mouth
OMIM:176270	PWAR1	145624	HP:0001513	Obesity
OMIM:176270	PWAR1	145624	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	PWAR1	145624	HP:0002591	Polyphagia
OMIM:176270	PWAR1	145624	HP:0001270	Motor delay
OMIM:176270	PWAR1	145624	HP:0012743	Abdominal obesity
OMIM:176270	PWAR1	145624	HP:0001531	Failure to thrive in infancy
OMIM:176270	PWAR1	145624	HP:0002033	Poor suck
OMIM:176270	PWAR1	145624	HP:0002791	Hypoventilation
OMIM:176270	PWAR1	145624	HP:0200055	Small hand
OMIM:176270	PWAR1	145624	HP:0002650	Scoliosis
OMIM:176270	MKRN3-AS1	10108	HP:0000540	Hypermetropia
OMIM:176270	MKRN3-AS1	10108	HP:0030084	Clinodactyly
OMIM:176270	MKRN3-AS1	10108	HP:0000750	Delayed speech and language development
OMIM:176270	MKRN3-AS1	10108	HP:0004322	Short stature
OMIM:176270	MKRN3-AS1	10108	HP:0002205	Recurrent respiratory infections
OMIM:176270	MKRN3-AS1	10108	HP:0004279	Short palm
OMIM:176270	MKRN3-AS1	10108	HP:0000842	Hyperinsulinemia
OMIM:176270	MKRN3-AS1	10108	HP:0007328	Impaired pain sensation
OMIM:176270	MKRN3-AS1	10108	HP:0003745	Sporadic
OMIM:176270	MKRN3-AS1	10108	HP:0007015	Poor gross motor coordination
OMIM:176270	MKRN3-AS1	10108	HP:0000060	Clitoral hypoplasia
OMIM:176270	MKRN3-AS1	10108	HP:0004283	Narrow palm
OMIM:176270	MKRN3-AS1	10108	HP:0001328	Specific learning disability
OMIM:176270	MKRN3-AS1	10108	HP:0002808	Kyphosis
OMIM:176270	MKRN3-AS1	10108	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	MKRN3-AS1	10108	HP:0010535	Sleep apnea
OMIM:176270	MKRN3-AS1	10108	HP:0000268	Dolichocephaly
OMIM:176270	MKRN3-AS1	10108	HP:0000824	Growth hormone deficiency
OMIM:176270	MKRN3-AS1	10108	HP:0000876	Oligomenorrhea
OMIM:176270	MKRN3-AS1	10108	HP:0003199	Decreased muscle mass
OMIM:176270	MKRN3-AS1	10108	HP:0000341	Narrow forehead
OMIM:176270	MKRN3-AS1	10108	HP:0001611	Nasal speech
OMIM:176270	MKRN3-AS1	10108	HP:0000446	Narrow nasal bridge
OMIM:176270	MKRN3-AS1	10108	HP:0002119	Ventriculomegaly
OMIM:176270	MKRN3-AS1	10108	HP:0000219	Thin upper lip vermilion
OMIM:176270	MKRN3-AS1	10108	HP:0000064	Hypoplastic labia minora
OMIM:176270	MKRN3-AS1	10108	HP:0001263	Global developmental delay
OMIM:176270	MKRN3-AS1	10108	HP:0001558	Decreased fetal movement
OMIM:176270	MKRN3-AS1	10108	HP:0000823	Delayed puberty
OMIM:176270	MKRN3-AS1	10108	HP:0000054	Micropenis
OMIM:176270	MKRN3-AS1	10108	HP:0001773	Short foot
OMIM:176270	MKRN3-AS1	10108	HP:0007513	Generalized hypopigmentation
OMIM:176270	MKRN3-AS1	10108	HP:0001290	Generalized hypotonia
OMIM:176270	MKRN3-AS1	10108	HP:0000789	Infertility
OMIM:176270	MKRN3-AS1	10108	HP:0000992	Cutaneous photosensitivity
OMIM:176270	MKRN3-AS1	10108	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	MKRN3-AS1	10108	HP:0002714	Downturned corners of mouth
OMIM:176270	MKRN3-AS1	10108	HP:0001513	Obesity
OMIM:176270	MKRN3-AS1	10108	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	MKRN3-AS1	10108	HP:0002591	Polyphagia
OMIM:176270	MKRN3-AS1	10108	HP:0001270	Motor delay
OMIM:176270	MKRN3-AS1	10108	HP:0012743	Abdominal obesity
OMIM:176270	MKRN3-AS1	10108	HP:0001531	Failure to thrive in infancy
OMIM:176270	MKRN3-AS1	10108	HP:0002033	Poor suck
OMIM:176270	MKRN3-AS1	10108	HP:0002791	Hypoventilation
OMIM:176270	MKRN3-AS1	10108	HP:0200055	Small hand
OMIM:176270	MKRN3-AS1	10108	HP:0002650	Scoliosis
OMIM:176270	HERC2	8924	HP:0000540	Hypermetropia
OMIM:176270	HERC2	8924	HP:0030084	Clinodactyly
OMIM:176270	HERC2	8924	HP:0000750	Delayed speech and language development
OMIM:176270	HERC2	8924	HP:0004322	Short stature
OMIM:176270	HERC2	8924	HP:0002205	Recurrent respiratory infections
OMIM:176270	HERC2	8924	HP:0004279	Short palm
OMIM:176270	HERC2	8924	HP:0000842	Hyperinsulinemia
OMIM:176270	HERC2	8924	HP:0007328	Impaired pain sensation
OMIM:176270	HERC2	8924	HP:0003745	Sporadic
OMIM:176270	HERC2	8924	HP:0007015	Poor gross motor coordination
OMIM:176270	HERC2	8924	HP:0000060	Clitoral hypoplasia
OMIM:176270	HERC2	8924	HP:0004283	Narrow palm
OMIM:176270	HERC2	8924	HP:0001328	Specific learning disability
OMIM:176270	HERC2	8924	HP:0002808	Kyphosis
OMIM:176270	HERC2	8924	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	HERC2	8924	HP:0010535	Sleep apnea
OMIM:176270	HERC2	8924	HP:0000268	Dolichocephaly
OMIM:176270	HERC2	8924	HP:0000824	Growth hormone deficiency
OMIM:176270	HERC2	8924	HP:0000876	Oligomenorrhea
OMIM:176270	HERC2	8924	HP:0003199	Decreased muscle mass
OMIM:176270	HERC2	8924	HP:0000341	Narrow forehead
OMIM:176270	HERC2	8924	HP:0001611	Nasal speech
OMIM:176270	HERC2	8924	HP:0000446	Narrow nasal bridge
OMIM:176270	HERC2	8924	HP:0002119	Ventriculomegaly
OMIM:176270	HERC2	8924	HP:0000219	Thin upper lip vermilion
OMIM:176270	HERC2	8924	HP:0000064	Hypoplastic labia minora
OMIM:176270	HERC2	8924	HP:0001263	Global developmental delay
OMIM:176270	HERC2	8924	HP:0001558	Decreased fetal movement
OMIM:176270	HERC2	8924	HP:0000823	Delayed puberty
OMIM:176270	HERC2	8924	HP:0000054	Micropenis
OMIM:176270	HERC2	8924	HP:0001773	Short foot
OMIM:176270	HERC2	8924	HP:0007513	Generalized hypopigmentation
OMIM:176270	HERC2	8924	HP:0001290	Generalized hypotonia
OMIM:176270	HERC2	8924	HP:0000789	Infertility
OMIM:176270	HERC2	8924	HP:0000992	Cutaneous photosensitivity
OMIM:176270	HERC2	8924	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	HERC2	8924	HP:0002714	Downturned corners of mouth
OMIM:176270	HERC2	8924	HP:0001513	Obesity
OMIM:176270	HERC2	8924	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	HERC2	8924	HP:0002591	Polyphagia
OMIM:176270	HERC2	8924	HP:0001270	Motor delay
OMIM:176270	HERC2	8924	HP:0012743	Abdominal obesity
OMIM:176270	HERC2	8924	HP:0001531	Failure to thrive in infancy
OMIM:176270	HERC2	8924	HP:0002033	Poor suck
OMIM:176270	HERC2	8924	HP:0002791	Hypoventilation
OMIM:176270	HERC2	8924	HP:0200055	Small hand
OMIM:176270	HERC2	8924	HP:0002650	Scoliosis
OMIM:176270	NPAP1	23742	HP:0000540	Hypermetropia
OMIM:176270	NPAP1	23742	HP:0030084	Clinodactyly
OMIM:176270	NPAP1	23742	HP:0000750	Delayed speech and language development
OMIM:176270	NPAP1	23742	HP:0004322	Short stature
OMIM:176270	NPAP1	23742	HP:0002205	Recurrent respiratory infections
OMIM:176270	NPAP1	23742	HP:0004279	Short palm
OMIM:176270	NPAP1	23742	HP:0000842	Hyperinsulinemia
OMIM:176270	NPAP1	23742	HP:0007328	Impaired pain sensation
OMIM:176270	NPAP1	23742	HP:0003745	Sporadic
OMIM:176270	NPAP1	23742	HP:0007015	Poor gross motor coordination
OMIM:176270	NPAP1	23742	HP:0000060	Clitoral hypoplasia
OMIM:176270	NPAP1	23742	HP:0004283	Narrow palm
OMIM:176270	NPAP1	23742	HP:0001328	Specific learning disability
OMIM:176270	NPAP1	23742	HP:0002808	Kyphosis
OMIM:176270	NPAP1	23742	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	NPAP1	23742	HP:0010535	Sleep apnea
OMIM:176270	NPAP1	23742	HP:0000268	Dolichocephaly
OMIM:176270	NPAP1	23742	HP:0000824	Growth hormone deficiency
OMIM:176270	NPAP1	23742	HP:0000876	Oligomenorrhea
OMIM:176270	NPAP1	23742	HP:0003199	Decreased muscle mass
OMIM:176270	NPAP1	23742	HP:0000341	Narrow forehead
OMIM:176270	NPAP1	23742	HP:0001611	Nasal speech
OMIM:176270	NPAP1	23742	HP:0000446	Narrow nasal bridge
OMIM:176270	NPAP1	23742	HP:0002119	Ventriculomegaly
OMIM:176270	NPAP1	23742	HP:0000219	Thin upper lip vermilion
OMIM:176270	NPAP1	23742	HP:0000064	Hypoplastic labia minora
OMIM:176270	NPAP1	23742	HP:0001263	Global developmental delay
OMIM:176270	NPAP1	23742	HP:0001558	Decreased fetal movement
OMIM:176270	NPAP1	23742	HP:0000823	Delayed puberty
OMIM:176270	NPAP1	23742	HP:0000054	Micropenis
OMIM:176270	NPAP1	23742	HP:0001773	Short foot
OMIM:176270	NPAP1	23742	HP:0007513	Generalized hypopigmentation
OMIM:176270	NPAP1	23742	HP:0001290	Generalized hypotonia
OMIM:176270	NPAP1	23742	HP:0000789	Infertility
OMIM:176270	NPAP1	23742	HP:0000992	Cutaneous photosensitivity
OMIM:176270	NPAP1	23742	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	NPAP1	23742	HP:0002714	Downturned corners of mouth
OMIM:176270	NPAP1	23742	HP:0001513	Obesity
OMIM:176270	NPAP1	23742	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	NPAP1	23742	HP:0002591	Polyphagia
OMIM:176270	NPAP1	23742	HP:0001270	Motor delay
OMIM:176270	NPAP1	23742	HP:0012743	Abdominal obesity
OMIM:176270	NPAP1	23742	HP:0001531	Failure to thrive in infancy
OMIM:176270	NPAP1	23742	HP:0002033	Poor suck
OMIM:176270	NPAP1	23742	HP:0002791	Hypoventilation
OMIM:176270	NPAP1	23742	HP:0200055	Small hand
OMIM:176270	NPAP1	23742	HP:0002650	Scoliosis
OMIM:176270	SNRPN	6638	HP:0000540	Hypermetropia
OMIM:176270	SNRPN	6638	HP:0030084	Clinodactyly
OMIM:176270	SNRPN	6638	HP:0000750	Delayed speech and language development
OMIM:176270	SNRPN	6638	HP:0004322	Short stature
OMIM:176270	SNRPN	6638	HP:0002205	Recurrent respiratory infections
OMIM:176270	SNRPN	6638	HP:0004279	Short palm
OMIM:176270	SNRPN	6638	HP:0000842	Hyperinsulinemia
OMIM:176270	SNRPN	6638	HP:0007328	Impaired pain sensation
OMIM:176270	SNRPN	6638	HP:0003745	Sporadic
OMIM:176270	SNRPN	6638	HP:0007015	Poor gross motor coordination
OMIM:176270	SNRPN	6638	HP:0000060	Clitoral hypoplasia
OMIM:176270	SNRPN	6638	HP:0004283	Narrow palm
OMIM:176270	SNRPN	6638	HP:0001328	Specific learning disability
OMIM:176270	SNRPN	6638	HP:0002808	Kyphosis
OMIM:176270	SNRPN	6638	HP:0007874	Almond-shaped palpebral fissure
OMIM:176270	SNRPN	6638	HP:0010535	Sleep apnea
OMIM:176270	SNRPN	6638	HP:0000268	Dolichocephaly
OMIM:176270	SNRPN	6638	HP:0000824	Growth hormone deficiency
OMIM:176270	SNRPN	6638	HP:0000876	Oligomenorrhea
OMIM:176270	SNRPN	6638	HP:0003199	Decreased muscle mass
OMIM:176270	SNRPN	6638	HP:0000341	Narrow forehead
OMIM:176270	SNRPN	6638	HP:0001611	Nasal speech
OMIM:176270	SNRPN	6638	HP:0000446	Narrow nasal bridge
OMIM:176270	SNRPN	6638	HP:0002119	Ventriculomegaly
OMIM:176270	SNRPN	6638	HP:0000219	Thin upper lip vermilion
OMIM:176270	SNRPN	6638	HP:0000064	Hypoplastic labia minora
OMIM:176270	SNRPN	6638	HP:0001263	Global developmental delay
OMIM:176270	SNRPN	6638	HP:0001558	Decreased fetal movement
OMIM:176270	SNRPN	6638	HP:0000823	Delayed puberty
OMIM:176270	SNRPN	6638	HP:0000054	Micropenis
OMIM:176270	SNRPN	6638	HP:0001773	Short foot
OMIM:176270	SNRPN	6638	HP:0007513	Generalized hypopigmentation
OMIM:176270	SNRPN	6638	HP:0001290	Generalized hypotonia
OMIM:176270	SNRPN	6638	HP:0000789	Infertility
OMIM:176270	SNRPN	6638	HP:0000992	Cutaneous photosensitivity
OMIM:176270	SNRPN	6638	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	SNRPN	6638	HP:0002714	Downturned corners of mouth
OMIM:176270	SNRPN	6638	HP:0001513	Obesity
OMIM:176270	SNRPN	6638	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	SNRPN	6638	HP:0002591	Polyphagia
OMIM:176270	SNRPN	6638	HP:0001270	Motor delay
OMIM:176270	SNRPN	6638	HP:0012743	Abdominal obesity
OMIM:176270	SNRPN	6638	HP:0001531	Failure to thrive in infancy
OMIM:176270	SNRPN	6638	HP:0002033	Poor suck
OMIM:176270	SNRPN	6638	HP:0002791	Hypoventilation
OMIM:176270	SNRPN	6638	HP:0200055	Small hand
OMIM:176270	SNRPN	6638	HP:0002650	Scoliosis
OMIM:146550	HR	55806	HP:0003777	Pili torti
OMIM:146550	HR	55806	HP:0002231	Sparse body hair
OMIM:146550	HR	55806	HP:0000006	Autosomal dominant inheritance
OMIM:146550	HR	55806	HP:0000535	Sparse and thin eyebrow
OMIM:146550	HR	55806	HP:0001006	Hypotrichosis
OMIM:146550	HR	55806	HP:0001596	Alopecia
OMIM:146550	HR	55806	HP:0000653	Sparse eyelashes
ORPHA:317	GJB3	2707	HP:0000958	Dry skin
ORPHA:317	GJB3	2707	HP:0001034	Hypermelanotic macule
ORPHA:317	GJB3	2707	HP:0010783	Erythema
ORPHA:317	GJB3	2707	HP:0008066	Abnormal blistering of the skin
ORPHA:317	GJB3	2707	HP:0005588	Patchy palmoplantar keratoderma
ORPHA:317	GJB3	2707	HP:0000992	Cutaneous photosensitivity
ORPHA:317	GJB3	2707	HP:0000819	Diabetes mellitus
ORPHA:317	GJB3	2707	HP:0004322	Short stature
ORPHA:317	GJB3	2707	HP:0001596	Alopecia
ORPHA:317	GJB3	2707	HP:0000518	Cataract
ORPHA:317	GJB3	2707	HP:0000252	Microcephaly
ORPHA:317	GJB3	2707	HP:0000988	Skin rash
ORPHA:317	GJB3	2707	HP:0000501	Glaucoma
ORPHA:317	GJB3	2707	HP:0001824	Weight loss
ORPHA:317	KDSR	2531	HP:0000958	Dry skin
ORPHA:317	KDSR	2531	HP:0001034	Hypermelanotic macule
ORPHA:317	KDSR	2531	HP:0010783	Erythema
ORPHA:317	KDSR	2531	HP:0008066	Abnormal blistering of the skin
ORPHA:317	KDSR	2531	HP:0005588	Patchy palmoplantar keratoderma
ORPHA:317	KDSR	2531	HP:0000992	Cutaneous photosensitivity
ORPHA:317	KDSR	2531	HP:0000819	Diabetes mellitus
ORPHA:317	KDSR	2531	HP:0004322	Short stature
ORPHA:317	KDSR	2531	HP:0001596	Alopecia
ORPHA:317	KDSR	2531	HP:0000518	Cataract
ORPHA:317	KDSR	2531	HP:0000252	Microcephaly
ORPHA:317	KDSR	2531	HP:0000988	Skin rash
ORPHA:317	KDSR	2531	HP:0000501	Glaucoma
ORPHA:317	KDSR	2531	HP:0001824	Weight loss
ORPHA:317	GJA1	2697	HP:0000958	Dry skin
ORPHA:317	GJA1	2697	HP:0001034	Hypermelanotic macule
ORPHA:317	GJA1	2697	HP:0010783	Erythema
ORPHA:317	GJA1	2697	HP:0008066	Abnormal blistering of the skin
ORPHA:317	GJA1	2697	HP:0005588	Patchy palmoplantar keratoderma
ORPHA:317	GJA1	2697	HP:0000992	Cutaneous photosensitivity
ORPHA:317	GJA1	2697	HP:0000819	Diabetes mellitus
ORPHA:317	GJA1	2697	HP:0004322	Short stature
ORPHA:317	GJA1	2697	HP:0001596	Alopecia
ORPHA:317	GJA1	2697	HP:0000518	Cataract
ORPHA:317	GJA1	2697	HP:0000252	Microcephaly
ORPHA:317	GJA1	2697	HP:0000988	Skin rash
ORPHA:317	GJA1	2697	HP:0000501	Glaucoma
ORPHA:317	GJA1	2697	HP:0001824	Weight loss
ORPHA:317	GJB4	127534	HP:0000958	Dry skin
ORPHA:317	GJB4	127534	HP:0001034	Hypermelanotic macule
ORPHA:317	GJB4	127534	HP:0010783	Erythema
ORPHA:317	GJB4	127534	HP:0008066	Abnormal blistering of the skin
ORPHA:317	GJB4	127534	HP:0005588	Patchy palmoplantar keratoderma
ORPHA:317	GJB4	127534	HP:0000992	Cutaneous photosensitivity
ORPHA:317	GJB4	127534	HP:0000819	Diabetes mellitus
ORPHA:317	GJB4	127534	HP:0004322	Short stature
ORPHA:317	GJB4	127534	HP:0001596	Alopecia
ORPHA:317	GJB4	127534	HP:0000518	Cataract
ORPHA:317	GJB4	127534	HP:0000252	Microcephaly
ORPHA:317	GJB4	127534	HP:0000988	Skin rash
ORPHA:317	GJB4	127534	HP:0000501	Glaucoma
ORPHA:317	GJB4	127534	HP:0001824	Weight loss
OMIM:613750	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:613750	NRL	4901	HP:0000533	Chorioretinal atrophy
OMIM:613750	NRL	4901	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	NRL	4901	HP:0000505	Visual impairment
OMIM:613750	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613750	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613750	NRL	4901	HP:0000662	Nyctalopia
ORPHA:79404	LAMA3	3909	HP:0001818	Paronychia
ORPHA:79404	LAMA3	3909	HP:0001508	Failure to thrive
ORPHA:79404	LAMA3	3909	HP:0001602	Laryngeal stenosis
ORPHA:79404	LAMA3	3909	HP:0006511	Laryngeal stridor
ORPHA:79404	LAMA3	3909	HP:0008066	Abnormal blistering of the skin
ORPHA:79404	LAMA3	3909	HP:0200041	Skin erosion
ORPHA:79404	LAMA3	3909	HP:0001057	Aplasia cutis congenita
ORPHA:79404	LAMA3	3909	HP:0002043	Esophageal stricture
ORPHA:79404	LAMA3	3909	HP:0001944	Dehydration
ORPHA:79404	LAMA3	3909	HP:0001609	Hoarse voice
ORPHA:79404	LAMA3	3909	HP:0011968	Feeding difficulties
ORPHA:79404	LAMA3	3909	HP:0001075	Atrophic scars
ORPHA:79404	LAMA3	3909	HP:0002094	Dyspnea
ORPHA:79404	LAMA3	3909	HP:0001056	Milia
ORPHA:79404	LAMA3	3909	HP:0008404	Nail dystrophy
ORPHA:79404	LAMB3	3914	HP:0001818	Paronychia
ORPHA:79404	LAMB3	3914	HP:0001508	Failure to thrive
ORPHA:79404	LAMB3	3914	HP:0001602	Laryngeal stenosis
ORPHA:79404	LAMB3	3914	HP:0006511	Laryngeal stridor
ORPHA:79404	LAMB3	3914	HP:0008066	Abnormal blistering of the skin
ORPHA:79404	LAMB3	3914	HP:0200041	Skin erosion
ORPHA:79404	LAMB3	3914	HP:0001057	Aplasia cutis congenita
ORPHA:79404	LAMB3	3914	HP:0002043	Esophageal stricture
ORPHA:79404	LAMB3	3914	HP:0001944	Dehydration
ORPHA:79404	LAMB3	3914	HP:0001609	Hoarse voice
ORPHA:79404	LAMB3	3914	HP:0011968	Feeding difficulties
ORPHA:79404	LAMB3	3914	HP:0001075	Atrophic scars
ORPHA:79404	LAMB3	3914	HP:0002094	Dyspnea
ORPHA:79404	LAMB3	3914	HP:0001056	Milia
ORPHA:79404	LAMB3	3914	HP:0008404	Nail dystrophy
ORPHA:79404	LAMC2	3918	HP:0001818	Paronychia
ORPHA:79404	LAMC2	3918	HP:0001508	Failure to thrive
ORPHA:79404	LAMC2	3918	HP:0001602	Laryngeal stenosis
ORPHA:79404	LAMC2	3918	HP:0006511	Laryngeal stridor
ORPHA:79404	LAMC2	3918	HP:0008066	Abnormal blistering of the skin
ORPHA:79404	LAMC2	3918	HP:0200041	Skin erosion
ORPHA:79404	LAMC2	3918	HP:0001057	Aplasia cutis congenita
ORPHA:79404	LAMC2	3918	HP:0002043	Esophageal stricture
ORPHA:79404	LAMC2	3918	HP:0001944	Dehydration
ORPHA:79404	LAMC2	3918	HP:0001609	Hoarse voice
ORPHA:79404	LAMC2	3918	HP:0011968	Feeding difficulties
ORPHA:79404	LAMC2	3918	HP:0001075	Atrophic scars
ORPHA:79404	LAMC2	3918	HP:0002094	Dyspnea
ORPHA:79404	LAMC2	3918	HP:0001056	Milia
ORPHA:79404	LAMC2	3918	HP:0008404	Nail dystrophy
ORPHA:638	MAP2K2	5605	HP:0000765	Abnormality of the thorax
ORPHA:638	MAP2K2	5605	HP:0000465	Webbed neck
ORPHA:638	MAP2K2	5605	HP:0003010	Prolonged bleeding time
ORPHA:638	MAP2K2	5605	HP:0000494	Downslanted palpebral fissures
ORPHA:638	MAP2K2	5605	HP:0000316	Hypertelorism
ORPHA:638	MAP2K2	5605	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:638	MAP2K2	5605	HP:0011039	Abnormality of the helix
ORPHA:638	MAP2K2	5605	HP:0007565	Multiple cafe-au-lait spots
ORPHA:638	MAP2K2	5605	HP:0100763	Abnormality of the lymphatic system
ORPHA:638	MAP2K2	5605	HP:0004322	Short stature
ORPHA:638	MAP2K2	5605	HP:0002015	Dysphagia
ORPHA:638	MAP2K2	5605	HP:0000508	Ptosis
ORPHA:638	MAP2K2	5605	HP:0009023	Abdominal wall muscle weakness
ORPHA:638	MAP2K2	5605	HP:0001328	Specific learning disability
ORPHA:638	MAP2K2	5605	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:638	MAP2K2	5605	HP:0000028	Cryptorchidism
ORPHA:638	MAP2K2	5605	HP:0001642	Pulmonic stenosis
ORPHA:638	NF1	4763	HP:0000765	Abnormality of the thorax
ORPHA:638	NF1	4763	HP:0000465	Webbed neck
ORPHA:638	NF1	4763	HP:0003010	Prolonged bleeding time
ORPHA:638	NF1	4763	HP:0000494	Downslanted palpebral fissures
ORPHA:638	NF1	4763	HP:0000316	Hypertelorism
ORPHA:638	NF1	4763	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:638	NF1	4763	HP:0011039	Abnormality of the helix
ORPHA:638	NF1	4763	HP:0007565	Multiple cafe-au-lait spots
ORPHA:638	NF1	4763	HP:0100763	Abnormality of the lymphatic system
ORPHA:638	NF1	4763	HP:0004322	Short stature
ORPHA:638	NF1	4763	HP:0002015	Dysphagia
ORPHA:638	NF1	4763	HP:0000508	Ptosis
ORPHA:638	NF1	4763	HP:0009023	Abdominal wall muscle weakness
ORPHA:638	NF1	4763	HP:0001328	Specific learning disability
ORPHA:638	NF1	4763	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:638	NF1	4763	HP:0000028	Cryptorchidism
ORPHA:638	NF1	4763	HP:0001642	Pulmonic stenosis
OMIM:601812	PDGFRB	5159	HP:0000460	Narrow nose
OMIM:601812	PDGFRB	5159	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:601812	PDGFRB	5159	HP:0000233	Thin vermilion border
OMIM:601812	PDGFRB	5159	HP:0000520	Proptosis
OMIM:601812	PDGFRB	5159	HP:0001507	Growth abnormality
OMIM:601812	PDGFRB	5159	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:601812	PDGFRB	5159	HP:0000347	Micrognathia
OMIM:601812	PDGFRB	5159	HP:0000684	Delayed eruption of teeth
OMIM:601812	PDGFRB	5159	HP:0010539	Thin calvarium
OMIM:601812	PDGFRB	5159	HP:0001156	Brachydactyly
OMIM:601812	PDGFRB	5159	HP:0000327	Hypoplasia of the maxilla
OMIM:601812	PDGFRB	5159	HP:0000938	Osteopenia
OMIM:601812	PDGFRB	5159	HP:0003100	Slender long bone
OMIM:601812	PDGFRB	5159	HP:0000962	Hyperkeratosis
OMIM:601812	PDGFRB	5159	HP:0008070	Sparse hair
OMIM:601812	PDGFRB	5159	HP:0011800	Midface retrusion
OMIM:601812	PDGFRB	5159	HP:0002750	Delayed skeletal maturation
OMIM:601812	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:601812	PDGFRB	5159	HP:0000426	Prominent nasal bridge
OMIM:601812	PDGFRB	5159	HP:0100578	Lipoatrophy
OMIM:601812	PDGFRB	5159	HP:0000270	Delayed cranial suture closure
OMIM:601812	PDGFRB	5159	HP:0000407	Sensorineural hearing impairment
OMIM:601812	PDGFRB	5159	HP:0000540	Hypermetropia
OMIM:612446	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C6	729	HP:0004431	Complement deficiency
OMIM:612446	C6	729	HP:0005381	Recurrent meningococcal disease
OMIM:607765	HSD3B7	80270	HP:0200084	Giant cell hepatitis
OMIM:607765	HSD3B7	80270	HP:0001394	Cirrhosis
OMIM:607765	HSD3B7	80270	HP:0002570	Steatorrhea
OMIM:607765	HSD3B7	80270	HP:0001399	Hepatic failure
OMIM:607765	HSD3B7	80270	HP:0002910	Elevated hepatic transaminases
OMIM:607765	HSD3B7	80270	HP:0003256	Abnormality of the coagulation cascade
OMIM:607765	HSD3B7	80270	HP:0001744	Splenomegaly
OMIM:607765	HSD3B7	80270	HP:0003623	Neonatal onset
OMIM:607765	HSD3B7	80270	HP:0001508	Failure to thrive
OMIM:607765	HSD3B7	80270	HP:0000952	Jaundice
OMIM:607765	HSD3B7	80270	HP:0003146	Hypocholesterolemia
OMIM:607765	HSD3B7	80270	HP:0002904	Hyperbilirubinemia
OMIM:607765	HSD3B7	80270	HP:0002240	Hepatomegaly
OMIM:607765	HSD3B7	80270	HP:0000007	Autosomal recessive inheritance
OMIM:607765	HSD3B7	80270	HP:0011985	Acholic stools
OMIM:607765	HSD3B7	80270	HP:0001406	Intrahepatic cholestasis
OMIM:607765	HSD3B7	80270	HP:0002014	Diarrhea
OMIM:609549	MFRP	83552	HP:0000568	Microphthalmia
OMIM:609549	MFRP	83552	HP:0000007	Autosomal recessive inheritance
OMIM:256700	NME1	4830	HP:0001251	Ataxia
OMIM:256700	NME1	4830	HP:0002277	Horner syndrome
OMIM:256700	NME1	4830	HP:0000765	Abnormality of the thorax
OMIM:256700	NME1	4830	HP:0002014	Diarrhea
OMIM:256700	NME1	4830	HP:0011979	Elevated urinary dopamine
OMIM:256700	NME1	4830	HP:0000822	Hypertension
OMIM:256700	NME1	4830	HP:0010543	Opsoclonus
OMIM:256700	NME1	4830	HP:0001945	Fever
OMIM:256700	NME1	4830	HP:0000006	Autosomal dominant inheritance
OMIM:256700	NME1	4830	HP:0003006	Neuroblastoma
OMIM:256700	NME1	4830	HP:0002027	Abdominal pain
OMIM:256700	NME1	4830	HP:0200036	Skin nodule
OMIM:256700	NME1	4830	HP:0001824	Weight loss
OMIM:256700	NME1	4830	HP:0002176	Spinal cord compression
OMIM:256700	NME1	4830	HP:0011978	Elevated urinary vanillylmandelic acid
OMIM:256700	NME1	4830	HP:0001425	Heterogeneous
OMIM:256700	NME1	4830	HP:0003745	Sporadic
OMIM:256700	NME1	4830	HP:0006747	Ganglioneuroblastoma
OMIM:256700	NME1	4830	HP:0003829	Incomplete penetrance
OMIM:256700	NME1	4830	HP:0011977	Elevated urinary homovanillic acid
OMIM:256700	NME1	4830	HP:0002653	Bone pain
OMIM:256700	NME1	4830	HP:0001508	Failure to thrive
OMIM:256700	NME1	4830	HP:0003005	Ganglioneuroma
OMIM:256700	NME1	4830	HP:0001903	Anemia
OMIM:256700	NME1	4830	HP:0001336	Myoclonus
OMIM:300659	BRWD3	254065	HP:0000750	Delayed speech and language development
OMIM:300659	BRWD3	254065	HP:0001419	X-linked recessive inheritance
OMIM:300659	BRWD3	254065	HP:0002007	Frontal bossing
OMIM:300659	BRWD3	254065	HP:0001763	Pes planus
OMIM:300659	BRWD3	254065	HP:0000256	Macrocephaly
OMIM:300659	BRWD3	254065	HP:0000400	Macrotia
OMIM:300659	BRWD3	254065	HP:0000276	Long face
OMIM:300659	BRWD3	254065	HP:0000378	Cupped ear
OMIM:300659	BRWD3	254065	HP:0001256	Intellectual disability, mild
OMIM:300659	BRWD3	254065	HP:0000028	Cryptorchidism
OMIM:300659	BRWD3	254065	HP:0001290	Generalized hypotonia
OMIM:300659	BRWD3	254065	HP:0011220	Prominent forehead
OMIM:604804	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:604804	CDK5RAP2	55755	HP:0002342	Intellectual disability, moderate
OMIM:604804	CDK5RAP2	55755	HP:0001263	Global developmental delay
OMIM:604804	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:604804	CDK5RAP2	55755	HP:0002472	Small cerebral cortex
OMIM:604804	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:114500	APC	324	HP:0006753	Neoplasm of the stomach
OMIM:114500	APC	324	HP:0005584	Renal cell carcinoma
OMIM:114500	APC	324	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	APC	324	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	APC	324	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	FLCN	201163	HP:0006753	Neoplasm of the stomach
OMIM:114500	FLCN	201163	HP:0005584	Renal cell carcinoma
OMIM:114500	FLCN	201163	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	FLCN	201163	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	FLCN	201163	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	PIK3CA	5290	HP:0006753	Neoplasm of the stomach
OMIM:114500	PIK3CA	5290	HP:0005584	Renal cell carcinoma
OMIM:114500	PIK3CA	5290	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	PIK3CA	5290	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	PIK3CA	5290	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	AKT1	207	HP:0006753	Neoplasm of the stomach
OMIM:114500	AKT1	207	HP:0005584	Renal cell carcinoma
OMIM:114500	AKT1	207	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	AKT1	207	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	AKT1	207	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	EP300	2033	HP:0006753	Neoplasm of the stomach
OMIM:114500	EP300	2033	HP:0005584	Renal cell carcinoma
OMIM:114500	EP300	2033	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	EP300	2033	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	EP300	2033	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	FGFR3	2261	HP:0006753	Neoplasm of the stomach
OMIM:114500	FGFR3	2261	HP:0005584	Renal cell carcinoma
OMIM:114500	FGFR3	2261	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	FGFR3	2261	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	FGFR3	2261	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	TP53	7157	HP:0006753	Neoplasm of the stomach
OMIM:114500	TP53	7157	HP:0005584	Renal cell carcinoma
OMIM:114500	TP53	7157	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	TP53	7157	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	TP53	7157	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	AXIN2	8313	HP:0006753	Neoplasm of the stomach
OMIM:114500	AXIN2	8313	HP:0005584	Renal cell carcinoma
OMIM:114500	AXIN2	8313	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	AXIN2	8313	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	AXIN2	8313	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	SRC	6714	HP:0006753	Neoplasm of the stomach
OMIM:114500	SRC	6714	HP:0005584	Renal cell carcinoma
OMIM:114500	SRC	6714	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	SRC	6714	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	SRC	6714	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	DLC1	10395	HP:0006753	Neoplasm of the stomach
OMIM:114500	DLC1	10395	HP:0005584	Renal cell carcinoma
OMIM:114500	DLC1	10395	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	DLC1	10395	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	DLC1	10395	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	CTNNB1	1499	HP:0006753	Neoplasm of the stomach
OMIM:114500	CTNNB1	1499	HP:0005584	Renal cell carcinoma
OMIM:114500	CTNNB1	1499	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	CTNNB1	1499	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	CTNNB1	1499	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	NRAS	4893	HP:0006753	Neoplasm of the stomach
OMIM:114500	NRAS	4893	HP:0005584	Renal cell carcinoma
OMIM:114500	NRAS	4893	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	NRAS	4893	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	NRAS	4893	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	BUB1B	701	HP:0006753	Neoplasm of the stomach
OMIM:114500	BUB1B	701	HP:0005584	Renal cell carcinoma
OMIM:114500	BUB1B	701	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	BUB1B	701	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	BUB1B	701	HP:0002891	Uterine leiomyosarcoma
OMIM:114500	DCC	1630	HP:0006753	Neoplasm of the stomach
OMIM:114500	DCC	1630	HP:0005584	Renal cell carcinoma
OMIM:114500	DCC	1630	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:114500	DCC	1630	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:114500	DCC	1630	HP:0002891	Uterine leiomyosarcoma
OMIM:158810	COL6A1	1291	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A1	1291	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A1	1291	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A1	1291	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A1	1291	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A1	1291	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A1	1291	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A1	1291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A1	1291	HP:0003828	Variable expressivity
OMIM:158810	COL6A1	1291	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A1	1291	HP:0003677	Slow progression
OMIM:158810	COL6A1	1291	HP:0003202	Skeletal muscle atrophy
OMIM:158810	COL6A1	1291	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A1	1291	HP:0006466	Ankle contracture
OMIM:158810	COL6A1	1291	HP:0003198	Myopathy
OMIM:158810	COL6A1	1291	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A1	1291	HP:0000473	Torticollis
OMIM:158810	COL6A1	1291	HP:0001270	Motor delay
OMIM:158810	COL6A1	1291	HP:0005988	Congenital muscular torticollis
OMIM:158810	COL6A1	1291	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A2	1292	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A2	1292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A2	1292	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A2	1292	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A2	1292	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A2	1292	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A2	1292	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A2	1292	HP:0003828	Variable expressivity
OMIM:158810	COL6A2	1292	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A2	1292	HP:0003677	Slow progression
OMIM:158810	COL6A2	1292	HP:0003202	Skeletal muscle atrophy
OMIM:158810	COL6A2	1292	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A2	1292	HP:0006466	Ankle contracture
OMIM:158810	COL6A2	1292	HP:0003198	Myopathy
OMIM:158810	COL6A2	1292	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A2	1292	HP:0000473	Torticollis
OMIM:158810	COL6A2	1292	HP:0001270	Motor delay
OMIM:158810	COL6A2	1292	HP:0005988	Congenital muscular torticollis
OMIM:158810	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL6A3	1293	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A3	1293	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A3	1293	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A3	1293	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A3	1293	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A3	1293	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A3	1293	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A3	1293	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A3	1293	HP:0003828	Variable expressivity
OMIM:158810	COL6A3	1293	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A3	1293	HP:0003677	Slow progression
OMIM:158810	COL6A3	1293	HP:0003202	Skeletal muscle atrophy
OMIM:158810	COL6A3	1293	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A3	1293	HP:0006466	Ankle contracture
OMIM:158810	COL6A3	1293	HP:0003198	Myopathy
OMIM:158810	COL6A3	1293	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A3	1293	HP:0000473	Torticollis
OMIM:158810	COL6A3	1293	HP:0001270	Motor delay
OMIM:158810	COL6A3	1293	HP:0005988	Congenital muscular torticollis
OMIM:158810	COL6A3	1293	HP:0000007	Autosomal recessive inheritance
OMIM:617343	GCM2	9247	HP:0008200	Primary hyperparathyroidism
OMIM:617343	GCM2	9247	HP:0000006	Autosomal dominant inheritance
OMIM:617343	GCM2	9247	HP:0003072	Hypercalcemia
OMIM:614862	PEX6	5190	HP:0000107	Renal cyst
OMIM:614862	PEX6	5190	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX6	5190	HP:0000537	Epicanthus inversus
OMIM:614862	PEX6	5190	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX6	5190	HP:0008935	Generalized neonatal hypotonia
OMIM:614862	PEX6	5190	HP:0001522	Death in infancy
OMIM:614862	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX6	5190	HP:0002878	Respiratory failure
OMIM:614862	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614862	PEX6	5190	HP:0000316	Hypertelorism
OMIM:614862	PEX6	5190	HP:0001290	Generalized hypotonia
OMIM:614862	PEX6	5190	HP:0001250	Seizures
OMIM:112410	PDE3A	5139	HP:0000822	Hypertension
OMIM:112410	PDE3A	5139	HP:0009803	Short phalanx of finger
OMIM:112410	PDE3A	5139	HP:0010049	Short metacarpal
OMIM:112410	PDE3A	5139	HP:0004322	Short stature
OMIM:112410	PDE3A	5139	HP:0001156	Brachydactyly
OMIM:112410	PDE3A	5139	HP:0000006	Autosomal dominant inheritance
OMIM:268130	TINF2	26277	HP:0001263	Global developmental delay
OMIM:268130	TINF2	26277	HP:0000555	Leukocoria
OMIM:268130	TINF2	26277	HP:0002213	Fine hair
OMIM:268130	TINF2	26277	HP:0008070	Sparse hair
OMIM:268130	TINF2	26277	HP:0001803	Nail pits
OMIM:268130	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:268130	TINF2	26277	HP:0007898	Exudative retinopathy
OMIM:268130	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:268130	TINF2	26277	HP:0007617	Fine, reticulate skin pigmentation
OMIM:268130	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:268130	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:268130	TINF2	26277	HP:0000485	Megalocornea
OMIM:268130	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:268130	TINF2	26277	HP:0002745	Oral leukoplakia
OMIM:268130	TINF2	26277	HP:0002344	Progressive neurologic deterioration
OMIM:268130	TINF2	26277	HP:0002514	Cerebral calcification
OMIM:268130	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:268130	TINF2	26277	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:268130	TINF2	26277	HP:0003745	Sporadic
OMIM:268130	TINF2	26277	HP:0008402	Ridged fingernail
OMIM:268130	TINF2	26277	HP:0001251	Ataxia
OMIM:268130	TINF2	26277	HP:0000639	Nystagmus
OMIM:268130	TINF2	26277	HP:0001276	Hypertonia
OMIM:615026	SLC52A1	55065	HP:0045045	Elevated plasma acylcarnitine levels
OMIM:615026	SLC52A1	55065	HP:0002033	Poor suck
OMIM:615026	SLC52A1	55065	HP:0001942	Metabolic acidosis
OMIM:615026	SLC52A1	55065	HP:0000006	Autosomal dominant inheritance
OMIM:615026	SLC52A1	55065	HP:0003215	Dicarboxylic aciduria
OMIM:615026	SLC52A1	55065	HP:0100504	Vitamin B2 deficiency
OMIM:615026	SLC52A1	55065	HP:0001943	Hypoglycemia
OMIM:616937	SRC	6714	HP:0002003	Large forehead
OMIM:616937	SRC	6714	HP:0000490	Deeply set eye
OMIM:616937	SRC	6714	HP:0000006	Autosomal dominant inheritance
OMIM:616937	SRC	6714	HP:0011974	Myelofibrosis
OMIM:616937	SRC	6714	HP:0000601	Hypotelorism
OMIM:616937	SRC	6714	HP:0031020	Bone marrow hypercellularity
OMIM:616937	SRC	6714	HP:0004406	Spontaneous, recurrent epistaxis
OMIM:616937	SRC	6714	HP:0001873	Thrombocytopenia
OMIM:224900	EDAR	10913	HP:0000668	Hypodontia
OMIM:224900	EDAR	10913	HP:0000970	Anhidrosis
OMIM:224900	EDAR	10913	HP:0000535	Sparse and thin eyebrow
OMIM:224900	EDAR	10913	HP:0012471	Thick vermilion border
OMIM:224900	EDAR	10913	HP:0000674	Anodontia
OMIM:224900	EDAR	10913	HP:0001425	Heterogeneous
OMIM:224900	EDAR	10913	HP:0001106	Periorbital hyperpigmentation
OMIM:224900	EDAR	10913	HP:0002046	Heat intolerance
OMIM:224900	EDAR	10913	HP:0000653	Sparse eyelashes
OMIM:224900	EDAR	10913	HP:0010803	Everted upper lip vermilion
OMIM:224900	EDAR	10913	HP:0007607	Hypohidrotic ectodermal dysplasia
OMIM:224900	EDAR	10913	HP:0000607	Periorbital wrinkles
OMIM:224900	EDAR	10913	HP:0005280	Depressed nasal bridge
OMIM:224900	EDAR	10913	HP:0000232	Everted lower lip vermilion
OMIM:224900	EDAR	10913	HP:0000966	Hypohidrosis
OMIM:224900	EDAR	10913	HP:0002007	Frontal bossing
OMIM:224900	EDAR	10913	HP:0000691	Microdontia
OMIM:224900	EDAR	10913	HP:0000007	Autosomal recessive inheritance
OMIM:224900	EDAR	10913	HP:0001006	Hypotrichosis
OMIM:224900	EDARADD	128178	HP:0000668	Hypodontia
OMIM:224900	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:224900	EDARADD	128178	HP:0000535	Sparse and thin eyebrow
OMIM:224900	EDARADD	128178	HP:0012471	Thick vermilion border
OMIM:224900	EDARADD	128178	HP:0000674	Anodontia
OMIM:224900	EDARADD	128178	HP:0001425	Heterogeneous
OMIM:224900	EDARADD	128178	HP:0001106	Periorbital hyperpigmentation
OMIM:224900	EDARADD	128178	HP:0002046	Heat intolerance
OMIM:224900	EDARADD	128178	HP:0000653	Sparse eyelashes
OMIM:224900	EDARADD	128178	HP:0010803	Everted upper lip vermilion
OMIM:224900	EDARADD	128178	HP:0007607	Hypohidrotic ectodermal dysplasia
OMIM:224900	EDARADD	128178	HP:0000607	Periorbital wrinkles
OMIM:224900	EDARADD	128178	HP:0005280	Depressed nasal bridge
OMIM:224900	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:224900	EDARADD	128178	HP:0000966	Hypohidrosis
OMIM:224900	EDARADD	128178	HP:0002007	Frontal bossing
OMIM:224900	EDARADD	128178	HP:0000691	Microdontia
OMIM:224900	EDARADD	128178	HP:0000007	Autosomal recessive inheritance
OMIM:224900	EDARADD	128178	HP:0001006	Hypotrichosis
OMIM:604121	DNMT1	1786	HP:0000716	Depressivity
OMIM:604121	DNMT1	1786	HP:0002524	Cataplexy
OMIM:604121	DNMT1	1786	HP:0002354	Memory impairment
OMIM:604121	DNMT1	1786	HP:0001257	Spasticity
OMIM:604121	DNMT1	1786	HP:0001272	Cerebellar atrophy
OMIM:604121	DNMT1	1786	HP:0001251	Ataxia
OMIM:604121	DNMT1	1786	HP:0030050	Narcolepsy
OMIM:604121	DNMT1	1786	HP:0002476	Primitive reflex
OMIM:604121	DNMT1	1786	HP:0000006	Autosomal dominant inheritance
OMIM:604121	DNMT1	1786	HP:0000726	Dementia
OMIM:604121	DNMT1	1786	HP:0001347	Hyperreflexia
OMIM:604121	DNMT1	1786	HP:0003676	Progressive
OMIM:604121	DNMT1	1786	HP:0000407	Sensorineural hearing impairment
OMIM:604121	DNMT1	1786	HP:0003581	Adult onset
OMIM:604121	DNMT1	1786	HP:0002189	Excessive daytime sleepiness
ORPHA:1871	GUCA1A	2978	HP:0000613	Photophobia
ORPHA:1871	GUCA1A	2978	HP:0000551	Abnormality of color vision
ORPHA:1871	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1871	GUCA1A	2978	HP:0000512	Abnormal electroretinogram
ORPHA:1871	GUCA1A	2978	HP:0000505	Visual impairment
ORPHA:1871	CNGB3	54714	HP:0000613	Photophobia
ORPHA:1871	CNGB3	54714	HP:0000551	Abnormality of color vision
ORPHA:1871	CNGB3	54714	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1871	CNGB3	54714	HP:0000512	Abnormal electroretinogram
ORPHA:1871	CNGB3	54714	HP:0000505	Visual impairment
ORPHA:1871	PDE6C	5146	HP:0000613	Photophobia
ORPHA:1871	PDE6C	5146	HP:0000551	Abnormality of color vision
ORPHA:1871	PDE6C	5146	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1871	PDE6C	5146	HP:0000512	Abnormal electroretinogram
ORPHA:1871	PDE6C	5146	HP:0000505	Visual impairment
ORPHA:1871	GNAT2	2780	HP:0000613	Photophobia
ORPHA:1871	GNAT2	2780	HP:0000551	Abnormality of color vision
ORPHA:1871	GNAT2	2780	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1871	GNAT2	2780	HP:0000512	Abnormal electroretinogram
ORPHA:1871	GNAT2	2780	HP:0000505	Visual impairment
ORPHA:545	HLA-DRB1	3123	HP:0002665	Lymphoma
ORPHA:545	HLA-DRB1	3123	HP:0001744	Splenomegaly
ORPHA:545	HLA-DRB1	3123	HP:0012378	Fatigue
ORPHA:545	HLA-DRB1	3123	HP:0030166	Night sweats
ORPHA:545	HLA-DRB1	3123	HP:0001824	Weight loss
ORPHA:545	HLA-DRB1	3123	HP:0001945	Fever
ORPHA:545	HLA-DRB1	3123	HP:0100721	Mediastinal lymphadenopathy
ORPHA:545	BCL2	596	HP:0002665	Lymphoma
ORPHA:545	BCL2	596	HP:0001744	Splenomegaly
ORPHA:545	BCL2	596	HP:0012378	Fatigue
ORPHA:545	BCL2	596	HP:0030166	Night sweats
ORPHA:545	BCL2	596	HP:0001824	Weight loss
ORPHA:545	BCL2	596	HP:0001945	Fever
ORPHA:545	BCL2	596	HP:0100721	Mediastinal lymphadenopathy
ORPHA:545	IGH	3492	HP:0002665	Lymphoma
ORPHA:545	IGH	3492	HP:0001744	Splenomegaly
ORPHA:545	IGH	3492	HP:0012378	Fatigue
ORPHA:545	IGH	3492	HP:0030166	Night sweats
ORPHA:545	IGH	3492	HP:0001824	Weight loss
ORPHA:545	IGH	3492	HP:0001945	Fever
ORPHA:545	IGH	3492	HP:0100721	Mediastinal lymphadenopathy
ORPHA:545	BCL6	604	HP:0002665	Lymphoma
ORPHA:545	BCL6	604	HP:0001744	Splenomegaly
ORPHA:545	BCL6	604	HP:0012378	Fatigue
ORPHA:545	BCL6	604	HP:0030166	Night sweats
ORPHA:545	BCL6	604	HP:0001824	Weight loss
ORPHA:545	BCL6	604	HP:0001945	Fever
ORPHA:545	BCL6	604	HP:0100721	Mediastinal lymphadenopathy
OMIM:165550	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:165550	PAX6	5080	HP:0000505	Visual impairment
OMIM:165550	PAX6	5080	HP:0007663	Reduced visual acuity
OMIM:165550	PAX6	5080	HP:0000609	Optic nerve hypoplasia
OMIM:165550	PAX6	5080	HP:0012795	Abnormality of the optic disc
OMIM:165550	PAX6	5080	HP:0012521	Optic nerve aplasia
ORPHA:131	JAK2	3717	HP:0002027	Abdominal pain
ORPHA:131	JAK2	3717	HP:0001945	Fever
ORPHA:131	JAK2	3717	HP:0001541	Ascites
ORPHA:131	JAK2	3717	HP:0002040	Esophageal varix
ORPHA:131	JAK2	3717	HP:0001409	Portal hypertension
ORPHA:131	JAK2	3717	HP:0001744	Splenomegaly
ORPHA:131	JAK2	3717	HP:0002910	Elevated hepatic transaminases
ORPHA:131	JAK2	3717	HP:0001394	Cirrhosis
ORPHA:131	JAK2	3717	HP:0002240	Hepatomegaly
ORPHA:131	F5	2153	HP:0002027	Abdominal pain
ORPHA:131	F5	2153	HP:0001945	Fever
ORPHA:131	F5	2153	HP:0001541	Ascites
ORPHA:131	F5	2153	HP:0002040	Esophageal varix
ORPHA:131	F5	2153	HP:0001409	Portal hypertension
ORPHA:131	F5	2153	HP:0001744	Splenomegaly
ORPHA:131	F5	2153	HP:0002910	Elevated hepatic transaminases
ORPHA:131	F5	2153	HP:0001394	Cirrhosis
ORPHA:131	F5	2153	HP:0002240	Hepatomegaly
ORPHA:424	TSHR	7253	HP:0000713	Agitation
ORPHA:424	TSHR	7253	HP:0002014	Diarrhea
ORPHA:424	TSHR	7253	HP:0001824	Weight loss
ORPHA:424	TSHR	7253	HP:0011784	Thyrotoxicosis with diffuse goiter
ORPHA:424	TSHR	7253	HP:0001518	Small for gestational age
ORPHA:424	TSHR	7253	HP:0001270	Motor delay
ORPHA:424	TSHR	7253	HP:0002378	Hand tremor
ORPHA:424	TSHR	7253	HP:0000752	Hyperactivity
ORPHA:424	TSHR	7253	HP:0001263	Global developmental delay
ORPHA:424	TSHR	7253	HP:0008249	Thyroid hyperplasia
ORPHA:424	TSHR	7253	HP:0002360	Sleep disturbance
ORPHA:424	TSHR	7253	HP:0011790	Activating thyroid-stimulating hormone receptor defect
ORPHA:424	TSHR	7253	HP:0000853	Goiter
ORPHA:424	TSHR	7253	HP:0005616	Accelerated skeletal maturation
OMIM:616209	CHCHD10	400916	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:616209	CHCHD10	400916	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616209	CHCHD10	400916	HP:0003546	Exercise intolerance
OMIM:616209	CHCHD10	400916	HP:0004322	Short stature
OMIM:616209	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:616209	CHCHD10	400916	HP:0003677	Slow progression
OMIM:616209	CHCHD10	400916	HP:0003722	Neck flexor weakness
OMIM:616209	CHCHD10	400916	HP:0010628	Facial palsy
OMIM:616209	CHCHD10	400916	HP:0002151	Increased serum lactate
ORPHA:79325	ALG8	79053	HP:0000091	Abnormality of the renal tubule
ORPHA:79325	ALG8	79053	HP:0000518	Cataract
ORPHA:79325	ALG8	79053	HP:0001399	Hepatic failure
ORPHA:79325	ALG8	79053	HP:0001004	Lymphedema
OMIM:605253	EGR2	1959	HP:0001284	Areflexia
OMIM:605253	EGR2	1959	HP:0007182	Peripheral hypomyelination
OMIM:605253	EGR2	1959	HP:0000007	Autosomal recessive inheritance
OMIM:605253	EGR2	1959	HP:0001270	Motor delay
OMIM:605253	EGR2	1959	HP:0009830	Peripheral neuropathy
OMIM:605253	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605253	EGR2	1959	HP:0003484	Upper limb muscle weakness
OMIM:605253	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:605253	EGR2	1959	HP:0003577	Congenital onset
OMIM:605253	EGR2	1959	HP:0001319	Neonatal hypotonia
OMIM:605253	EGR2	1959	HP:0001291	Abnormality of the cranial nerves
OMIM:605253	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:605253	EGR2	1959	HP:0003383	Onion bulb formation
OMIM:605253	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:605253	MPZ	4359	HP:0001284	Areflexia
OMIM:605253	MPZ	4359	HP:0007182	Peripheral hypomyelination
OMIM:605253	MPZ	4359	HP:0000007	Autosomal recessive inheritance
OMIM:605253	MPZ	4359	HP:0001270	Motor delay
OMIM:605253	MPZ	4359	HP:0009830	Peripheral neuropathy
OMIM:605253	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605253	MPZ	4359	HP:0003484	Upper limb muscle weakness
OMIM:605253	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:605253	MPZ	4359	HP:0003577	Congenital onset
OMIM:605253	MPZ	4359	HP:0001319	Neonatal hypotonia
OMIM:605253	MPZ	4359	HP:0001291	Abnormality of the cranial nerves
OMIM:605253	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:605253	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:605253	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RAX2	84839	HP:0007401	Macular atrophy
OMIM:610381	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RAX2	84839	HP:0000608	Macular degeneration
OMIM:610381	RAX2	84839	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RAX2	84839	HP:0011504	Bull's eye maculopathy
OMIM:613424	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613424	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613424	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:127550	TERC	7012	HP:0000670	Carious teeth
OMIM:127550	TERC	7012	HP:0008404	Nail dystrophy
OMIM:127550	TERC	7012	HP:0006739	Squamous cell carcinoma of the skin
OMIM:127550	TERC	7012	HP:0000939	Osteoporosis
OMIM:127550	TERC	7012	HP:0006515	Interstitial pneumonitis
OMIM:127550	TERC	7012	HP:0001888	Lymphopenia
OMIM:127550	TERC	7012	HP:0002863	Myelodysplasia
OMIM:127550	TERC	7012	HP:0001903	Anemia
OMIM:127550	TERC	7012	HP:0001807	Ridged nail
OMIM:127550	TERC	7012	HP:0001915	Aplastic anemia
OMIM:127550	TERC	7012	HP:0001251	Ataxia
OMIM:127550	TERC	7012	HP:0001596	Alopecia
OMIM:127550	TERC	7012	HP:0001328	Specific learning disability
OMIM:127550	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TERC	7012	HP:0002216	Premature graying of hair
OMIM:127550	TERC	7012	HP:0002745	Oral leukoplakia
OMIM:127550	TERC	7012	HP:0004334	Dermal atrophy
OMIM:127550	TERC	7012	HP:0007588	Reticular hyperpigmentation
OMIM:127550	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TERC	7012	HP:0001803	Nail pits
OMIM:127550	TERC	7012	HP:0003812	Phenotypic variability
OMIM:127550	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TERC	7012	HP:0001394	Cirrhosis
OMIM:127550	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:127550	TERC	7012	HP:0006480	Premature loss of teeth
OMIM:127550	TERC	7012	HP:0008070	Sparse hair
OMIM:127550	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:127550	TINF2	26277	HP:0000670	Carious teeth
OMIM:127550	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:127550	TINF2	26277	HP:0006739	Squamous cell carcinoma of the skin
OMIM:127550	TINF2	26277	HP:0000939	Osteoporosis
OMIM:127550	TINF2	26277	HP:0006515	Interstitial pneumonitis
OMIM:127550	TINF2	26277	HP:0001888	Lymphopenia
OMIM:127550	TINF2	26277	HP:0002863	Myelodysplasia
OMIM:127550	TINF2	26277	HP:0001903	Anemia
OMIM:127550	TINF2	26277	HP:0001807	Ridged nail
OMIM:127550	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:127550	TINF2	26277	HP:0001251	Ataxia
OMIM:127550	TINF2	26277	HP:0001596	Alopecia
OMIM:127550	TINF2	26277	HP:0001328	Specific learning disability
OMIM:127550	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:127550	TINF2	26277	HP:0002745	Oral leukoplakia
OMIM:127550	TINF2	26277	HP:0004334	Dermal atrophy
OMIM:127550	TINF2	26277	HP:0007588	Reticular hyperpigmentation
OMIM:127550	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TINF2	26277	HP:0001803	Nail pits
OMIM:127550	TINF2	26277	HP:0003812	Phenotypic variability
OMIM:127550	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TINF2	26277	HP:0001394	Cirrhosis
OMIM:127550	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:127550	TINF2	26277	HP:0006480	Premature loss of teeth
OMIM:127550	TINF2	26277	HP:0008070	Sparse hair
OMIM:127550	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:127550	TERT	7015	HP:0000670	Carious teeth
OMIM:127550	TERT	7015	HP:0008404	Nail dystrophy
OMIM:127550	TERT	7015	HP:0006739	Squamous cell carcinoma of the skin
OMIM:127550	TERT	7015	HP:0000939	Osteoporosis
OMIM:127550	TERT	7015	HP:0006515	Interstitial pneumonitis
OMIM:127550	TERT	7015	HP:0001888	Lymphopenia
OMIM:127550	TERT	7015	HP:0002863	Myelodysplasia
OMIM:127550	TERT	7015	HP:0001903	Anemia
OMIM:127550	TERT	7015	HP:0001807	Ridged nail
OMIM:127550	TERT	7015	HP:0001915	Aplastic anemia
OMIM:127550	TERT	7015	HP:0001251	Ataxia
OMIM:127550	TERT	7015	HP:0001596	Alopecia
OMIM:127550	TERT	7015	HP:0001328	Specific learning disability
OMIM:127550	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TERT	7015	HP:0002216	Premature graying of hair
OMIM:127550	TERT	7015	HP:0002745	Oral leukoplakia
OMIM:127550	TERT	7015	HP:0004334	Dermal atrophy
OMIM:127550	TERT	7015	HP:0007588	Reticular hyperpigmentation
OMIM:127550	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TERT	7015	HP:0001803	Nail pits
OMIM:127550	TERT	7015	HP:0003812	Phenotypic variability
OMIM:127550	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TERT	7015	HP:0001394	Cirrhosis
OMIM:127550	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:127550	TERT	7015	HP:0006480	Premature loss of teeth
OMIM:127550	TERT	7015	HP:0008070	Sparse hair
ORPHA:465508	HFE	3077	HP:0003040	Arthropathy
ORPHA:465508	HFE	3077	HP:0000934	Chondrocalcinosis
ORPHA:465508	HFE	3077	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:465508	HFE	3077	HP:0002829	Arthralgia
ORPHA:465508	HFE	3077	HP:0002240	Hepatomegaly
ORPHA:465508	HFE	3077	HP:0000802	Impotence
ORPHA:465508	HFE	3077	HP:0001376	Limitation of joint mobility
ORPHA:465508	HFE	3077	HP:0000953	Hyperpigmentation of the skin
ORPHA:465508	HFE	3077	HP:0003281	Increased serum ferritin
ORPHA:465508	HFE	3077	HP:0000135	Hypogonadism
ORPHA:465508	HFE	3077	HP:0001397	Hepatic steatosis
ORPHA:465508	HFE	3077	HP:0000771	Gynecomastia
ORPHA:465508	HFE	3077	HP:0012378	Fatigue
ORPHA:465508	HFE	3077	HP:0001373	Joint dislocation
OMIM:601455	NDRG1	10397	HP:0003693	Distal amyotrophy
OMIM:601455	NDRG1	10397	HP:0004696	Talipes cavus equinovarus
OMIM:601455	NDRG1	10397	HP:0000649	Abnormality of visual evoked potentials
OMIM:601455	NDRG1	10397	HP:0001155	Abnormality of the hand
OMIM:601455	NDRG1	10397	HP:0000762	Decreased nerve conduction velocity
OMIM:601455	NDRG1	10397	HP:0001265	Hyporeflexia
OMIM:601455	NDRG1	10397	HP:0006958	Abnormal auditory evoked potentials
OMIM:601455	NDRG1	10397	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
OMIM:601455	NDRG1	10397	HP:0002936	Distal sensory impairment
OMIM:601455	NDRG1	10397	HP:0000365	Hearing impairment
OMIM:601455	NDRG1	10397	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:601455	NDRG1	10397	HP:0000007	Autosomal recessive inheritance
OMIM:601455	NDRG1	10397	HP:0002460	Distal muscle weakness
OMIM:601455	NDRG1	10397	HP:0001288	Gait disturbance
OMIM:601455	NDRG1	10397	HP:0003447	Axonal loss
OMIM:601455	NDRG1	10397	HP:0001284	Areflexia
OMIM:601455	NDRG1	10397	HP:0003621	Juvenile onset
OMIM:601455	NDRG1	10397	HP:0003383	Onion bulb formation
OMIM:613217	EPCAM	4072	HP:0000007	Autosomal recessive inheritance
OMIM:613217	EPCAM	4072	HP:0001508	Failure to thrive
OMIM:613217	EPCAM	4072	HP:0002041	Intractable diarrhea
OMIM:613217	EPCAM	4072	HP:0011473	Villous atrophy
OMIM:613849	SP7	121340	HP:0040160	Generalized osteoporosis
OMIM:613849	SP7	121340	HP:0000336	Prominent supraorbital ridges
OMIM:613849	SP7	121340	HP:0000347	Micrognathia
OMIM:613849	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:613849	SP7	121340	HP:0002645	Wormian bones
OMIM:613849	SP7	121340	HP:0000324	Facial asymmetry
OMIM:613849	SP7	121340	HP:0011220	Prominent forehead
OMIM:613849	SP7	121340	HP:0001270	Motor delay
OMIM:613849	SP7	121340	HP:0000160	Narrow mouth
OMIM:613849	SP7	121340	HP:0011800	Midface retrusion
OMIM:613849	SP7	121340	HP:0000272	Malar flattening
OMIM:613849	SP7	121340	HP:0005280	Depressed nasal bridge
OMIM:613849	SP7	121340	HP:0000768	Pectus carinatum
OMIM:613849	SP7	121340	HP:0000218	High palate
OMIM:613849	SP7	121340	HP:0002650	Scoliosis
OMIM:613849	SP7	121340	HP:0000684	Delayed eruption of teeth
OMIM:613849	SP7	121340	HP:0004322	Short stature
OMIM:311250	OTC	5009	HP:0001419	X-linked recessive inheritance
OMIM:311250	OTC	5009	HP:0000737	Irritability
OMIM:311250	OTC	5009	HP:0002131	Episodic ataxia
OMIM:311250	OTC	5009	HP:0001508	Failure to thrive
OMIM:311250	OTC	5009	HP:0002013	Vomiting
OMIM:311250	OTC	5009	HP:0002038	Protein avoidance
OMIM:311250	OTC	5009	HP:0003217	Hyperglutaminemia
OMIM:311250	OTC	5009	HP:0002181	Cerebral edema
OMIM:311250	OTC	5009	HP:0001250	Seizures
OMIM:311250	OTC	5009	HP:0001249	Intellectual disability
OMIM:311250	OTC	5009	HP:0001254	Lethargy
OMIM:311250	OTC	5009	HP:0003572	Low plasma citrulline
OMIM:311250	OTC	5009	HP:0001259	Coma
OMIM:311250	OTC	5009	HP:0001951	Episodic ammonia intoxication
OMIM:311250	OTC	5009	HP:0001263	Global developmental delay
OMIM:311250	OTC	5009	HP:0001950	Respiratory alkalosis
OMIM:311250	OTC	5009	HP:0001987	Hyperammonemia
OMIM:615483	PDGFB	5155	HP:0000716	Depressivity
OMIM:615483	PDGFB	5155	HP:0000726	Dementia
OMIM:615483	PDGFB	5155	HP:0003676	Progressive
OMIM:615483	PDGFB	5155	HP:0000709	Psychosis
OMIM:615483	PDGFB	5155	HP:0001260	Dysarthria
OMIM:615483	PDGFB	5155	HP:0002135	Basal ganglia calcification
OMIM:615483	PDGFB	5155	HP:0002072	Chorea
OMIM:615483	PDGFB	5155	HP:0000739	Anxiety
OMIM:615483	PDGFB	5155	HP:0000741	Apathy
OMIM:615483	PDGFB	5155	HP:0002305	Athetosis
OMIM:615483	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:615483	PDGFB	5155	HP:0002076	Migraine
OMIM:615483	PDGFB	5155	HP:0100660	Dyskinesia
OMIM:615483	PDGFB	5155	HP:0100034	Motor tics
OMIM:615483	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:615483	PDGFB	5155	HP:0002321	Vertigo
OMIM:252500	GNPTAB	79158	HP:0005280	Depressed nasal bridge
OMIM:252500	GNPTAB	79158	HP:0000485	Megalocornea
OMIM:252500	GNPTAB	79158	HP:0000158	Macroglossia
OMIM:252500	GNPTAB	79158	HP:0003311	Hypoplasia of the odontoid process
OMIM:252500	GNPTAB	79158	HP:0008470	Lower thoracic interpediculate narrowness
OMIM:252500	GNPTAB	79158	HP:0000463	Anteverted nares
OMIM:252500	GNPTAB	79158	HP:0030148	Heart murmur
OMIM:252500	GNPTAB	79158	HP:0000286	Epicanthus
OMIM:252500	GNPTAB	79158	HP:0001609	Hoarse voice
OMIM:252500	GNPTAB	79158	HP:0000882	Hypoplastic scapulae
OMIM:252500	GNPTAB	79158	HP:0009769	Bullet-shaped phalanges of the hand
OMIM:252500	GNPTAB	79158	HP:0007759	Opacification of the corneal stroma
OMIM:252500	GNPTAB	79158	HP:0009092	Progressive alveolar ridge hypertropy
OMIM:252500	GNPTAB	79158	HP:0001498	Carpal bone hypoplasia
OMIM:252500	GNPTAB	79158	HP:0001171	Split hand
OMIM:252500	GNPTAB	79158	HP:0002837	Recurrent bronchitis
OMIM:252500	GNPTAB	79158	HP:0001048	Cavernous hemangioma
OMIM:252500	GNPTAB	79158	HP:0003300	Ovoid vertebral bodies
OMIM:252500	GNPTAB	79158	HP:0008155	Mucopolysacchariduria
OMIM:252500	GNPTAB	79158	HP:0001319	Neonatal hypotonia
OMIM:252500	GNPTAB	79158	HP:0001538	Protuberant abdomen
OMIM:252500	GNPTAB	79158	HP:0001635	Congestive heart failure
OMIM:252500	GNPTAB	79158	HP:0000023	Inguinal hernia
OMIM:252500	GNPTAB	79158	HP:0008850	Severe postnatal growth retardation
OMIM:252500	GNPTAB	79158	HP:0002756	Pathologic fracture
OMIM:252500	GNPTAB	79158	HP:0011344	Severe global developmental delay
OMIM:252500	GNPTAB	79158	HP:0006362	Varus deformity of humeral neck
OMIM:252500	GNPTAB	79158	HP:0003819	Death in childhood
OMIM:252500	GNPTAB	79158	HP:0002240	Hepatomegaly
OMIM:252500	GNPTAB	79158	HP:0000403	Recurrent otitis media
OMIM:252500	GNPTAB	79158	HP:0001640	Cardiomegaly
OMIM:252500	GNPTAB	79158	HP:0001537	Umbilical hernia
OMIM:252500	GNPTAB	79158	HP:0000343	Long philtrum
OMIM:252500	GNPTAB	79158	HP:0000938	Osteopenia
OMIM:252500	GNPTAB	79158	HP:0002690	Large sella turcica
OMIM:252500	GNPTAB	79158	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252500	GNPTAB	79158	HP:0000348	High forehead
OMIM:252500	GNPTAB	79158	HP:0001744	Splenomegaly
OMIM:252500	GNPTAB	79158	HP:0002684	Thickened calvaria
OMIM:252500	GNPTAB	79158	HP:0003026	Short long bone
OMIM:252500	GNPTAB	79158	HP:0003333	Increased serum beta-hexosaminidase
OMIM:252500	GNPTAB	79158	HP:0002196	Myelopathy
OMIM:252500	GNPTAB	79158	HP:0001540	Diastasis recti
OMIM:252500	GNPTAB	79158	HP:0003414	Atlantoaxial dislocation
OMIM:252500	GNPTAB	79158	HP:0002827	Hip dislocation
OMIM:252500	GNPTAB	79158	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase
OMIM:252500	GNPTAB	79158	HP:0003180	Flat acetabular roof
OMIM:252500	GNPTAB	79158	HP:0004562	Beaking of vertebral bodies T12-L3
OMIM:252500	GNPTAB	79158	HP:0006532	Recurrent pneumonia
OMIM:252500	GNPTAB	79158	HP:0001508	Failure to thrive
OMIM:252500	GNPTAB	79158	HP:0001762	Talipes equinovarus
OMIM:252500	GNPTAB	79158	HP:0001659	Aortic regurgitation
OMIM:252500	GNPTAB	79158	HP:0000280	Coarse facial features
OMIM:252500	GNPTAB	79158	HP:0006610	Wide intermamillary distance
OMIM:252500	GNPTAB	79158	HP:0003423	Thoracolumbar kyphoscoliosis
OMIM:252500	GNPTAB	79158	HP:0003016	Metaphyseal widening
OMIM:252500	GNPTAB	79158	HP:0100540	Palpebral edema
OMIM:252500	GNPTAB	79158	HP:0000007	Autosomal recessive inheritance
OMIM:252500	GNPTAB	79158	HP:0000535	Sparse and thin eyebrow
OMIM:252500	GNPTAB	79158	HP:0002869	Flared iliac wings
OMIM:252500	GNPTAB	79158	HP:0003538	Increased serum iduronate sulfatase activity
OMIM:252500	GNPTAB	79158	HP:0000341	Narrow forehead
OMIM:252500	GNPTAB	79158	HP:0001547	Abnormality of the rib cage
OMIM:600151	ARL6	84100	HP:0010442	Polydactyly
OMIM:600151	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600151	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:600151	ARL6	84100	HP:0003828	Variable expressivity
OMIM:600151	ARL6	84100	HP:0001156	Brachydactyly
OMIM:600151	ARL6	84100	HP:0000089	Renal hypoplasia
OMIM:600151	ARL6	84100	HP:0001513	Obesity
OMIM:600151	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:608647	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:608647	HYDIN	54768	HP:0100582	Nasal polyposis
OMIM:608647	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:608647	HYDIN	54768	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:608647	HYDIN	54768	HP:0003593	Infantile onset
OMIM:608647	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:608647	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:608647	HYDIN	54768	HP:0012265	Ciliary dyskinesia
OMIM:608647	HYDIN	54768	HP:0012384	Rhinitis
OMIM:608647	HYDIN	54768	HP:0002837	Recurrent bronchitis
OMIM:602079	FMO3	2328	HP:0001903	Anemia
OMIM:602079	FMO3	2328	HP:0006532	Recurrent pneumonia
OMIM:602079	FMO3	2328	HP:0000007	Autosomal recessive inheritance
OMIM:602079	FMO3	2328	HP:0001744	Splenomegaly
OMIM:602079	FMO3	2328	HP:0000822	Hypertension
OMIM:602079	FMO3	2328	HP:0001875	Neutropenia
OMIM:602079	FMO3	2328	HP:0000716	Depressivity
OMIM:602079	FMO3	2328	HP:0003614	Trimethylaminuria
OMIM:602079	FMO3	2328	HP:0001649	Tachycardia
ORPHA:145	PTEN	5728	HP:0003002	Breast carcinoma
ORPHA:145	PTEN	5728	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	PTEN	5728	HP:0100615	Ovarian neoplasm
ORPHA:145	PTEN	5728	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	RAD51	5888	HP:0003002	Breast carcinoma
ORPHA:145	RAD51	5888	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	RAD51	5888	HP:0100615	Ovarian neoplasm
ORPHA:145	RAD51	5888	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	BRCA1	672	HP:0003002	Breast carcinoma
ORPHA:145	BRCA1	672	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	BRCA1	672	HP:0100615	Ovarian neoplasm
ORPHA:145	BRCA1	672	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	CHEK2	11200	HP:0003002	Breast carcinoma
ORPHA:145	CHEK2	11200	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	CHEK2	11200	HP:0100615	Ovarian neoplasm
ORPHA:145	CHEK2	11200	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	RAD51C	5889	HP:0003002	Breast carcinoma
ORPHA:145	RAD51C	5889	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	RAD51C	5889	HP:0100615	Ovarian neoplasm
ORPHA:145	RAD51C	5889	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	BRCA2	675	HP:0003002	Breast carcinoma
ORPHA:145	BRCA2	675	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	BRCA2	675	HP:0100615	Ovarian neoplasm
ORPHA:145	BRCA2	675	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	BARD1	580	HP:0003002	Breast carcinoma
ORPHA:145	BARD1	580	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	BARD1	580	HP:0100615	Ovarian neoplasm
ORPHA:145	BARD1	580	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	RAD51D	5892	HP:0003002	Breast carcinoma
ORPHA:145	RAD51D	5892	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	RAD51D	5892	HP:0100615	Ovarian neoplasm
ORPHA:145	RAD51D	5892	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	MRE11	4361	HP:0003002	Breast carcinoma
ORPHA:145	MRE11	4361	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	MRE11	4361	HP:0100615	Ovarian neoplasm
ORPHA:145	MRE11	4361	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	NBN	4683	HP:0003002	Breast carcinoma
ORPHA:145	NBN	4683	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	NBN	4683	HP:0100615	Ovarian neoplasm
ORPHA:145	NBN	4683	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	PALB2	79728	HP:0003002	Breast carcinoma
ORPHA:145	PALB2	79728	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	PALB2	79728	HP:0100615	Ovarian neoplasm
ORPHA:145	PALB2	79728	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	TP53	7157	HP:0003002	Breast carcinoma
ORPHA:145	TP53	7157	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	TP53	7157	HP:0100615	Ovarian neoplasm
ORPHA:145	TP53	7157	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	BRIP1	83990	HP:0003002	Breast carcinoma
ORPHA:145	BRIP1	83990	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	BRIP1	83990	HP:0100615	Ovarian neoplasm
ORPHA:145	BRIP1	83990	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	RAD50	10111	HP:0003002	Breast carcinoma
ORPHA:145	RAD50	10111	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	RAD50	10111	HP:0100615	Ovarian neoplasm
ORPHA:145	RAD50	10111	HP:0030406	Primary peritoneal carcinoma
OMIM:615774	ZP1	22917	HP:0000007	Autosomal recessive inheritance
OMIM:615774	ZP1	22917	HP:0000789	Infertility
OMIM:607831	JPH1	56704	HP:0000006	Autosomal dominant inheritance
OMIM:607831	JPH1	56704	HP:0003701	Proximal muscle weakness
OMIM:607831	JPH1	56704	HP:0003593	Infantile onset
OMIM:607831	JPH1	56704	HP:0001425	Heterogeneous
OMIM:607831	JPH1	56704	HP:0000007	Autosomal recessive inheritance
OMIM:607831	JPH1	56704	HP:0001171	Split hand
OMIM:607831	JPH1	56704	HP:0003693	Distal amyotrophy
OMIM:607831	JPH1	56704	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607831	JPH1	56704	HP:0003450	Axonal regeneration
OMIM:607831	JPH1	56704	HP:0001284	Areflexia
OMIM:607831	JPH1	56704	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607831	JPH1	56704	HP:0002936	Distal sensory impairment
OMIM:607831	JPH1	56704	HP:0001762	Talipes equinovarus
OMIM:607831	JPH1	56704	HP:0002751	Kyphoscoliosis
OMIM:607831	JPH1	56704	HP:0002460	Distal muscle weakness
OMIM:607831	GDAP1	54332	HP:0000006	Autosomal dominant inheritance
OMIM:607831	GDAP1	54332	HP:0003701	Proximal muscle weakness
OMIM:607831	GDAP1	54332	HP:0003593	Infantile onset
OMIM:607831	GDAP1	54332	HP:0001425	Heterogeneous
OMIM:607831	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:607831	GDAP1	54332	HP:0001171	Split hand
OMIM:607831	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:607831	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607831	GDAP1	54332	HP:0003450	Axonal regeneration
OMIM:607831	GDAP1	54332	HP:0001284	Areflexia
OMIM:607831	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607831	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:607831	GDAP1	54332	HP:0001762	Talipes equinovarus
OMIM:607831	GDAP1	54332	HP:0002751	Kyphoscoliosis
OMIM:607831	GDAP1	54332	HP:0002460	Distal muscle weakness
ORPHA:1377	CRYAA	1409	HP:0000482	Microcornea
ORPHA:1377	CRYAA	1409	HP:0000545	Myopia
ORPHA:1377	CRYAA	1409	HP:0000518	Cataract
ORPHA:1377	CRYBA4	1413	HP:0000482	Microcornea
ORPHA:1377	CRYBA4	1413	HP:0000545	Myopia
ORPHA:1377	CRYBA4	1413	HP:0000518	Cataract
ORPHA:1377	CRYBB1	1414	HP:0000482	Microcornea
ORPHA:1377	CRYBB1	1414	HP:0000545	Myopia
ORPHA:1377	CRYBB1	1414	HP:0000518	Cataract
ORPHA:1377	CRYBB2	1415	HP:0000482	Microcornea
ORPHA:1377	CRYBB2	1415	HP:0000545	Myopia
ORPHA:1377	CRYBB2	1415	HP:0000518	Cataract
ORPHA:1377	CRYGC	1420	HP:0000482	Microcornea
ORPHA:1377	CRYGC	1420	HP:0000545	Myopia
ORPHA:1377	CRYGC	1420	HP:0000518	Cataract
ORPHA:1377	CRYGD	1421	HP:0000482	Microcornea
ORPHA:1377	CRYGD	1421	HP:0000545	Myopia
ORPHA:1377	CRYGD	1421	HP:0000518	Cataract
ORPHA:1377	MAF	4094	HP:0000482	Microcornea
ORPHA:1377	MAF	4094	HP:0000545	Myopia
ORPHA:1377	MAF	4094	HP:0000518	Cataract
ORPHA:1377	GJA8	2703	HP:0000482	Microcornea
ORPHA:1377	GJA8	2703	HP:0000545	Myopia
ORPHA:1377	GJA8	2703	HP:0000518	Cataract
ORPHA:2377	PNPLA6	10908	HP:0000083	Renal insufficiency
ORPHA:2377	PNPLA6	10908	HP:0009896	Abnormality of the antitragus
ORPHA:2377	PNPLA6	10908	HP:0008736	Hypoplasia of penis
ORPHA:2377	PNPLA6	10908	HP:0000028	Cryptorchidism
ORPHA:2377	PNPLA6	10908	HP:0001161	Hand polydactyly
ORPHA:2377	PNPLA6	10908	HP:0004322	Short stature
ORPHA:2377	PNPLA6	10908	HP:0001249	Intellectual disability
ORPHA:2377	PNPLA6	10908	HP:0000407	Sensorineural hearing impairment
ORPHA:2377	PNPLA6	10908	HP:0001513	Obesity
ORPHA:2377	PNPLA6	10908	HP:0006101	Finger syndactyly
OMIM:615984	BBS7	55212	HP:0001513	Obesity
OMIM:615984	BBS7	55212	HP:0010442	Polydactyly
OMIM:615984	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615984	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615984	BBS7	55212	HP:0000007	Autosomal recessive inheritance
ORPHA:166100	COL11A2	1302	HP:0000343	Long philtrum
ORPHA:166100	COL11A2	1302	HP:0000272	Malar flattening
ORPHA:166100	COL11A2	1302	HP:0000162	Glossoptosis
ORPHA:166100	COL11A2	1302	HP:0002758	Osteoarthritis
ORPHA:166100	COL11A2	1302	HP:0000175	Cleft palate
ORPHA:166100	COL11A2	1302	HP:0002829	Arthralgia
ORPHA:166100	COL11A2	1302	HP:0000347	Micrognathia
ORPHA:166100	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:218700	PAX8	7849	HP:0004491	Large posterior fontanelle
OMIM:218700	PAX8	7849	HP:0001510	Growth delay
OMIM:218700	PAX8	7849	HP:0002904	Hyperbilirubinemia
OMIM:218700	PAX8	7849	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:218700	PAX8	7849	HP:0005990	Thyroid hypoplasia
OMIM:218700	PAX8	7849	HP:0000158	Macroglossia
OMIM:218700	PAX8	7849	HP:0001615	Hoarse cry
OMIM:218700	PAX8	7849	HP:0002750	Delayed skeletal maturation
OMIM:218700	PAX8	7849	HP:0001254	Lethargy
OMIM:218700	PAX8	7849	HP:0002019	Constipation
OMIM:218700	PAX8	7849	HP:0008191	Thyroid agenesis
OMIM:218700	PAX8	7849	HP:0001537	Umbilical hernia
OMIM:218700	PAX8	7849	HP:0100028	Ectopic thyroid
OMIM:218700	PAX8	7849	HP:0003270	Abdominal distention
OMIM:218700	PAX8	7849	HP:0000853	Goiter
OMIM:218700	PAX8	7849	HP:0000958	Dry skin
OMIM:218700	PAX8	7849	HP:0008872	Feeding difficulties in infancy
OMIM:218700	PAX8	7849	HP:0001290	Generalized hypotonia
OMIM:218700	PAX8	7849	HP:0000851	Congenital hypothyroidism
OMIM:218700	PAX8	7849	HP:0001662	Bradycardia
OMIM:218700	PAX8	7849	HP:0000006	Autosomal dominant inheritance
OMIM:218700	PAX8	7849	HP:0002045	Hypothermia
OMIM:218700	PAX8	7849	HP:0010307	Stridor
ORPHA:91	CYP19A1	1588	HP:0003077	Hyperlipidemia
ORPHA:91	CYP19A1	1588	HP:0002050	Macroorchidism, postpubertal
ORPHA:91	CYP19A1	1588	HP:0001510	Growth delay
ORPHA:91	CYP19A1	1588	HP:0000098	Tall stature
ORPHA:91	CYP19A1	1588	HP:0003251	Male infertility
ORPHA:91	CYP19A1	1588	HP:0002857	Genu valgum
ORPHA:91	CYP19A1	1588	HP:0000028	Cryptorchidism
ORPHA:91	CYP19A1	1588	HP:0002750	Delayed skeletal maturation
ORPHA:91	CYP19A1	1588	HP:0008675	Enlarged polycystic ovaries
ORPHA:91	CYP19A1	1588	HP:0008072	Maternal virilization in pregnancy
ORPHA:91	CYP19A1	1588	HP:0008222	Female infertility
ORPHA:91	CYP19A1	1588	HP:0003782	Eunuchoid habitus
ORPHA:91	CYP19A1	1588	HP:0000938	Osteopenia
ORPHA:91	CYP19A1	1588	HP:0000939	Osteoporosis
ORPHA:91	CYP19A1	1588	HP:0001397	Hepatic steatosis
ORPHA:91	CYP19A1	1588	HP:0002653	Bone pain
ORPHA:91	CYP19A1	1588	HP:0000061	Ambiguous genitalia, female
ORPHA:91	CYP19A1	1588	HP:0001513	Obesity
ORPHA:91	CYP19A1	1588	HP:0000956	Acanthosis nigricans
ORPHA:91	CYP19A1	1588	HP:0002663	Delayed epiphyseal ossification
ORPHA:91	CYP19A1	1588	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:91	CYP19A1	1588	HP:0010458	Female pseudohermaphroditism
ORPHA:91	CYP19A1	1588	HP:0005978	Type II diabetes mellitus
ORPHA:91	CYP19A1	1588	HP:0000855	Insulin resistance
ORPHA:91	CYP19A1	1588	HP:0000786	Primary amenorrhea
ORPHA:91	CYP19A1	1588	HP:0002230	Generalized hirsutism
OMIM:266280	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:266280	RECQL4	9401	HP:0002705	High, narrow palate
OMIM:266280	RECQL4	9401	HP:0000365	Hearing impairment
OMIM:266280	RECQL4	9401	HP:0009777	Absent thumb
OMIM:266280	RECQL4	9401	HP:0000276	Long face
OMIM:266280	RECQL4	9401	HP:0000581	Blepharophimosis
OMIM:266280	RECQL4	9401	HP:0000175	Cleft palate
OMIM:266280	RECQL4	9401	HP:0002014	Diarrhea
OMIM:266280	RECQL4	9401	HP:0001070	Mottled pigmentation
OMIM:266280	RECQL4	9401	HP:0001373	Joint dislocation
OMIM:266280	RECQL4	9401	HP:0004322	Short stature
OMIM:266280	RECQL4	9401	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:266280	RECQL4	9401	HP:0000331	Short chin
OMIM:266280	RECQL4	9401	HP:0000417	Slender nose
OMIM:266280	RECQL4	9401	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:266280	RECQL4	9401	HP:0005198	Stiff interphalangeal joints
OMIM:615081	KLHL10	317719	HP:0000789	Infertility
OMIM:615081	KLHL10	317719	HP:0000006	Autosomal dominant inheritance
OMIM:310700	FRMD7	90167	HP:0001423	X-linked dominant inheritance
OMIM:310700	FRMD7	90167	HP:0012043	Pendular nystagmus
OMIM:310700	FRMD7	90167	HP:0003593	Infantile onset
OMIM:310700	FRMD7	90167	HP:0006934	Congenital nystagmus
OMIM:310700	FRMD7	90167	HP:0001425	Heterogeneous
OMIM:310700	FRMD7	90167	HP:0000666	Horizontal nystagmus
OMIM:310700	FRMD7	90167	HP:0007663	Reduced visual acuity
OMIM:310700	FRMD7	90167	HP:0001419	X-linked recessive inheritance
ORPHA:2526	KIF11	3832	HP:0008388	Abnormal toenail morphology
ORPHA:2526	KIF11	3832	HP:0001004	Lymphedema
ORPHA:2526	KIF11	3832	HP:0001328	Specific learning disability
ORPHA:2526	KIF11	3832	HP:0001249	Intellectual disability
ORPHA:2526	KIF11	3832	HP:0100644	Melanonychia
ORPHA:2526	KIF11	3832	HP:0001263	Global developmental delay
ORPHA:2526	KIF11	3832	HP:0001820	Leukonychia
ORPHA:2526	KIF11	3832	HP:0001252	Muscular hypotonia
ORPHA:2526	KIF11	3832	HP:0000252	Microcephaly
ORPHA:2526	KIF11	3832	HP:0000545	Myopia
ORPHA:2526	KIF11	3832	HP:0007703	Abnormality of retinal pigmentation
OMIM:612782	ORAI1	84876	HP:0003198	Myopathy
OMIM:612782	ORAI1	84876	HP:0003391	Gowers sign
OMIM:612782	ORAI1	84876	HP:0001252	Muscular hypotonia
OMIM:612782	ORAI1	84876	HP:0002046	Heat intolerance
OMIM:612782	ORAI1	84876	HP:0011107	Recurrent aphthous stomatitis
OMIM:612782	ORAI1	84876	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612782	ORAI1	84876	HP:0000007	Autosomal recessive inheritance
OMIM:612782	ORAI1	84876	HP:0000968	Ectodermal dysplasia
OMIM:612782	ORAI1	84876	HP:0002355	Difficulty walking
OMIM:612782	ORAI1	84876	HP:0001954	Episodic fever
OMIM:612782	ORAI1	84876	HP:0001508	Failure to thrive
OMIM:612782	ORAI1	84876	HP:0002719	Recurrent infections
OMIM:612782	ORAI1	84876	HP:0002721	Immunodeficiency
OMIM:300831	NSDHL	50814	HP:0000218	High palate
OMIM:300831	NSDHL	50814	HP:0000278	Retrognathia
OMIM:300831	NSDHL	50814	HP:0000750	Delayed speech and language development
OMIM:300831	NSDHL	50814	HP:0001302	Pachygyria
OMIM:300831	NSDHL	50814	HP:0000718	Aggressive behavior
OMIM:300831	NSDHL	50814	HP:0000737	Irritability
OMIM:300831	NSDHL	50814	HP:0000347	Micrognathia
OMIM:300831	NSDHL	50814	HP:0002650	Scoliosis
OMIM:300831	NSDHL	50814	HP:0001250	Seizures
OMIM:300831	NSDHL	50814	HP:0000678	Dental crowding
OMIM:300831	NSDHL	50814	HP:0001263	Global developmental delay
OMIM:300831	NSDHL	50814	HP:0001382	Joint hypermobility
OMIM:300831	NSDHL	50814	HP:0002126	Polymicrogyria
OMIM:300831	NSDHL	50814	HP:0000486	Strabismus
OMIM:300831	NSDHL	50814	HP:0000272	Malar flattening
OMIM:300831	NSDHL	50814	HP:0000276	Long face
OMIM:300831	NSDHL	50814	HP:0001249	Intellectual disability
OMIM:300831	NSDHL	50814	HP:0011297	Abnormality of digit
OMIM:300831	NSDHL	50814	HP:0002808	Kyphosis
OMIM:300831	NSDHL	50814	HP:0000275	Narrow face
OMIM:300831	NSDHL	50814	HP:0003307	Hyperlordosis
OMIM:300831	NSDHL	50814	HP:0007874	Almond-shaped palpebral fissure
OMIM:300831	NSDHL	50814	HP:0000358	Posteriorly rotated ears
OMIM:300831	NSDHL	50814	HP:0002360	Sleep disturbance
OMIM:300831	NSDHL	50814	HP:0000286	Epicanthus
OMIM:300831	NSDHL	50814	HP:0001419	X-linked recessive inheritance
OMIM:300831	NSDHL	50814	HP:0000252	Microcephaly
OMIM:300831	NSDHL	50814	HP:0000752	Hyperactivity
OMIM:300831	NSDHL	50814	HP:0000582	Upslanted palpebral fissure
OMIM:300831	NSDHL	50814	HP:0000426	Prominent nasal bridge
OMIM:300831	NSDHL	50814	HP:0001533	Slender build
OMIM:300831	NSDHL	50814	HP:0001290	Generalized hypotonia
OMIM:300831	NSDHL	50814	HP:0003103	Abnormal cortical bone morphology
OMIM:604131	HBA2	3040	HP:0004840	Hypochromic microcytic anemia
OMIM:604131	HBA2	3040	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:604131	HBB	3043	HP:0004840	Hypochromic microcytic anemia
OMIM:604131	HBB	3043	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:604131	HBA1	3039	HP:0004840	Hypochromic microcytic anemia
OMIM:604131	HBA1	3039	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:219200	ATP6V0A2	23545	HP:0000252	Microcephaly
OMIM:219200	ATP6V0A2	23545	HP:0009125	Lipodystrophy
OMIM:219200	ATP6V0A2	23545	HP:0002126	Polymicrogyria
OMIM:219200	ATP6V0A2	23545	HP:0002650	Scoliosis
OMIM:219200	ATP6V0A2	23545	HP:0001270	Motor delay
OMIM:219200	ATP6V0A2	23545	HP:0000260	Wide anterior fontanel
OMIM:219200	ATP6V0A2	23545	HP:0001763	Pes planus
OMIM:219200	ATP6V0A2	23545	HP:0000272	Malar flattening
OMIM:219200	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
OMIM:219200	ATP6V0A2	23545	HP:0000973	Cutis laxa
OMIM:219200	ATP6V0A2	23545	HP:0002208	Coarse hair
OMIM:219200	ATP6V0A2	23545	HP:0000343	Long philtrum
OMIM:219200	ATP6V0A2	23545	HP:0001290	Generalized hypotonia
OMIM:219200	ATP6V0A2	23545	HP:0001582	Redundant skin
OMIM:219200	ATP6V0A2	23545	HP:0000486	Strabismus
OMIM:219200	ATP6V0A2	23545	HP:0000160	Narrow mouth
OMIM:219200	ATP6V0A2	23545	HP:0001511	Intrauterine growth retardation
OMIM:219200	ATP6V0A2	23545	HP:0001249	Intellectual disability
OMIM:219200	ATP6V0A2	23545	HP:0008872	Feeding difficulties in infancy
OMIM:219200	ATP6V0A2	23545	HP:0001508	Failure to thrive
OMIM:219200	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
OMIM:219200	ATP6V0A2	23545	HP:0003196	Short nose
OMIM:219200	ATP6V0A2	23545	HP:0002007	Frontal bossing
OMIM:219200	ATP6V0A2	23545	HP:0000023	Inguinal hernia
OMIM:219200	ATP6V0A2	23545	HP:0003160	Abnormal isoelectric focusing of serum transferrin
OMIM:219200	ATP6V0A2	23545	HP:0001302	Pachygyria
OMIM:219200	ATP6V0A2	23545	HP:0000545	Myopia
OMIM:219200	ATP6V0A2	23545	HP:0001250	Seizures
OMIM:219200	ATP6V0A2	23545	HP:0011800	Midface retrusion
OMIM:219200	ATP6V0A2	23545	HP:0000218	High palate
OMIM:219200	ATP6V0A2	23545	HP:0000670	Carious teeth
OMIM:219200	ATP6V0A2	23545	HP:0012368	Flat face
OMIM:219200	ATP6V0A2	23545	HP:0000369	Low-set ears
OMIM:219200	ATP6V0A2	23545	HP:0000463	Anteverted nares
OMIM:219200	ATP6V0A2	23545	HP:0000007	Autosomal recessive inheritance
OMIM:219200	ATP6V0A2	23545	HP:0001382	Joint hypermobility
OMIM:219200	ATP6V0A2	23545	HP:0001305	Dandy-Walker malformation
ORPHA:238769	HNRNPU	3192	HP:0000252	Microcephaly
ORPHA:238769	HNRNPU	3192	HP:0000347	Micrognathia
ORPHA:238769	HNRNPU	3192	HP:0002263	Exaggerated cupid's bow
ORPHA:238769	HNRNPU	3192	HP:0000486	Strabismus
ORPHA:238769	HNRNPU	3192	HP:0000506	Telecanthus
ORPHA:238769	HNRNPU	3192	HP:0001671	Abnormality of the cardiac septa
ORPHA:238769	HNRNPU	3192	HP:0000286	Epicanthus
ORPHA:238769	HNRNPU	3192	HP:0000233	Thin vermilion border
ORPHA:238769	HNRNPU	3192	HP:0000319	Smooth philtrum
ORPHA:238769	HNRNPU	3192	HP:0004322	Short stature
ORPHA:238769	HNRNPU	3192	HP:0000316	Hypertelorism
ORPHA:238769	HNRNPU	3192	HP:0000582	Upslanted palpebral fissure
ORPHA:238769	HNRNPU	3192	HP:0001263	Global developmental delay
ORPHA:238769	HNRNPU	3192	HP:0001252	Muscular hypotonia
ORPHA:238769	HNRNPU	3192	HP:0000750	Delayed speech and language development
ORPHA:238769	HNRNPU	3192	HP:0010864	Intellectual disability, severe
ORPHA:238769	HNRNPU	3192	HP:0001274	Agenesis of corpus callosum
ORPHA:238769	HNRNPU	3192	HP:0002119	Ventriculomegaly
ORPHA:238769	HNRNPU	3192	HP:0002069	Generalized tonic-clonic seizures
ORPHA:117	HLA-B	3106	HP:0008066	Abnormal blistering of the skin
ORPHA:117	HLA-B	3106	HP:0004936	Venous thrombosis
ORPHA:117	HLA-B	3106	HP:0000155	Oral ulcer
ORPHA:117	HLA-B	3106	HP:0000613	Photophobia
ORPHA:117	HLA-B	3106	HP:0002027	Abdominal pain
ORPHA:117	HLA-B	3106	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	HLA-B	3106	HP:0001061	Acne
ORPHA:117	HLA-B	3106	HP:0001369	Arthritis
ORPHA:117	HLA-B	3106	HP:0200034	Papule
ORPHA:117	HLA-B	3106	HP:0100796	Orchitis
ORPHA:117	HLA-B	3106	HP:0003326	Myalgia
ORPHA:117	HLA-B	3106	HP:0012378	Fatigue
ORPHA:117	HLA-B	3106	HP:0002633	Vasculitis
ORPHA:117	HLA-B	3106	HP:0002829	Arthralgia
ORPHA:117	HLA-B	3106	HP:0100326	Immunologic hypersensitivity
ORPHA:117	HLA-B	3106	HP:0001269	Hemiparesis
ORPHA:117	HLA-B	3106	HP:0001945	Fever
ORPHA:117	HLA-B	3106	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	HLA-B	3106	HP:0001289	Confusion
ORPHA:117	HLA-B	3106	HP:0001287	Meningitis
ORPHA:117	HLA-B	3106	HP:0001288	Gait disturbance
ORPHA:117	HLA-B	3106	HP:0001482	Subcutaneous nodule
ORPHA:117	HLA-B	3106	HP:0002017	Nausea and vomiting
ORPHA:117	HLA-B	3106	HP:0002076	Migraine
ORPHA:117	IL10	3586	HP:0008066	Abnormal blistering of the skin
ORPHA:117	IL10	3586	HP:0004936	Venous thrombosis
ORPHA:117	IL10	3586	HP:0000155	Oral ulcer
ORPHA:117	IL10	3586	HP:0000613	Photophobia
ORPHA:117	IL10	3586	HP:0002027	Abdominal pain
ORPHA:117	IL10	3586	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	IL10	3586	HP:0001061	Acne
ORPHA:117	IL10	3586	HP:0001369	Arthritis
ORPHA:117	IL10	3586	HP:0200034	Papule
ORPHA:117	IL10	3586	HP:0100796	Orchitis
ORPHA:117	IL10	3586	HP:0003326	Myalgia
ORPHA:117	IL10	3586	HP:0012378	Fatigue
ORPHA:117	IL10	3586	HP:0002633	Vasculitis
ORPHA:117	IL10	3586	HP:0002829	Arthralgia
ORPHA:117	IL10	3586	HP:0100326	Immunologic hypersensitivity
ORPHA:117	IL10	3586	HP:0001269	Hemiparesis
ORPHA:117	IL10	3586	HP:0001945	Fever
ORPHA:117	IL10	3586	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	IL10	3586	HP:0001289	Confusion
ORPHA:117	IL10	3586	HP:0001287	Meningitis
ORPHA:117	IL10	3586	HP:0001288	Gait disturbance
ORPHA:117	IL10	3586	HP:0001482	Subcutaneous nodule
ORPHA:117	IL10	3586	HP:0002017	Nausea and vomiting
ORPHA:117	IL10	3586	HP:0002076	Migraine
ORPHA:117	FAS	355	HP:0008066	Abnormal blistering of the skin
ORPHA:117	FAS	355	HP:0004936	Venous thrombosis
ORPHA:117	FAS	355	HP:0000155	Oral ulcer
ORPHA:117	FAS	355	HP:0000613	Photophobia
ORPHA:117	FAS	355	HP:0002027	Abdominal pain
ORPHA:117	FAS	355	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	FAS	355	HP:0001061	Acne
ORPHA:117	FAS	355	HP:0001369	Arthritis
ORPHA:117	FAS	355	HP:0200034	Papule
ORPHA:117	FAS	355	HP:0100796	Orchitis
ORPHA:117	FAS	355	HP:0003326	Myalgia
ORPHA:117	FAS	355	HP:0012378	Fatigue
ORPHA:117	FAS	355	HP:0002633	Vasculitis
ORPHA:117	FAS	355	HP:0002829	Arthralgia
ORPHA:117	FAS	355	HP:0100326	Immunologic hypersensitivity
ORPHA:117	FAS	355	HP:0001269	Hemiparesis
ORPHA:117	FAS	355	HP:0001945	Fever
ORPHA:117	FAS	355	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	FAS	355	HP:0001289	Confusion
ORPHA:117	FAS	355	HP:0001287	Meningitis
ORPHA:117	FAS	355	HP:0001288	Gait disturbance
ORPHA:117	FAS	355	HP:0001482	Subcutaneous nodule
ORPHA:117	FAS	355	HP:0002017	Nausea and vomiting
ORPHA:117	FAS	355	HP:0002076	Migraine
ORPHA:117	IL12A	3592	HP:0008066	Abnormal blistering of the skin
ORPHA:117	IL12A	3592	HP:0004936	Venous thrombosis
ORPHA:117	IL12A	3592	HP:0000155	Oral ulcer
ORPHA:117	IL12A	3592	HP:0000613	Photophobia
ORPHA:117	IL12A	3592	HP:0002027	Abdominal pain
ORPHA:117	IL12A	3592	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	IL12A	3592	HP:0001061	Acne
ORPHA:117	IL12A	3592	HP:0001369	Arthritis
ORPHA:117	IL12A	3592	HP:0200034	Papule
ORPHA:117	IL12A	3592	HP:0100796	Orchitis
ORPHA:117	IL12A	3592	HP:0003326	Myalgia
ORPHA:117	IL12A	3592	HP:0012378	Fatigue
ORPHA:117	IL12A	3592	HP:0002633	Vasculitis
ORPHA:117	IL12A	3592	HP:0002829	Arthralgia
ORPHA:117	IL12A	3592	HP:0100326	Immunologic hypersensitivity
ORPHA:117	IL12A	3592	HP:0001269	Hemiparesis
ORPHA:117	IL12A	3592	HP:0001945	Fever
ORPHA:117	IL12A	3592	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	IL12A	3592	HP:0001289	Confusion
ORPHA:117	IL12A	3592	HP:0001287	Meningitis
ORPHA:117	IL12A	3592	HP:0001288	Gait disturbance
ORPHA:117	IL12A	3592	HP:0001482	Subcutaneous nodule
ORPHA:117	IL12A	3592	HP:0002017	Nausea and vomiting
ORPHA:117	IL12A	3592	HP:0002076	Migraine
ORPHA:117	ERAP1	51752	HP:0008066	Abnormal blistering of the skin
ORPHA:117	ERAP1	51752	HP:0004936	Venous thrombosis
ORPHA:117	ERAP1	51752	HP:0000155	Oral ulcer
ORPHA:117	ERAP1	51752	HP:0000613	Photophobia
ORPHA:117	ERAP1	51752	HP:0002027	Abdominal pain
ORPHA:117	ERAP1	51752	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	ERAP1	51752	HP:0001061	Acne
ORPHA:117	ERAP1	51752	HP:0001369	Arthritis
ORPHA:117	ERAP1	51752	HP:0200034	Papule
ORPHA:117	ERAP1	51752	HP:0100796	Orchitis
ORPHA:117	ERAP1	51752	HP:0003326	Myalgia
ORPHA:117	ERAP1	51752	HP:0012378	Fatigue
ORPHA:117	ERAP1	51752	HP:0002633	Vasculitis
ORPHA:117	ERAP1	51752	HP:0002829	Arthralgia
ORPHA:117	ERAP1	51752	HP:0100326	Immunologic hypersensitivity
ORPHA:117	ERAP1	51752	HP:0001269	Hemiparesis
ORPHA:117	ERAP1	51752	HP:0001945	Fever
ORPHA:117	ERAP1	51752	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	ERAP1	51752	HP:0001289	Confusion
ORPHA:117	ERAP1	51752	HP:0001287	Meningitis
ORPHA:117	ERAP1	51752	HP:0001288	Gait disturbance
ORPHA:117	ERAP1	51752	HP:0001482	Subcutaneous nodule
ORPHA:117	ERAP1	51752	HP:0002017	Nausea and vomiting
ORPHA:117	ERAP1	51752	HP:0002076	Migraine
ORPHA:117	IL12A-AS1	101928376	HP:0008066	Abnormal blistering of the skin
ORPHA:117	IL12A-AS1	101928376	HP:0004936	Venous thrombosis
ORPHA:117	IL12A-AS1	101928376	HP:0000155	Oral ulcer
ORPHA:117	IL12A-AS1	101928376	HP:0000613	Photophobia
ORPHA:117	IL12A-AS1	101928376	HP:0002027	Abdominal pain
ORPHA:117	IL12A-AS1	101928376	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	IL12A-AS1	101928376	HP:0001061	Acne
ORPHA:117	IL12A-AS1	101928376	HP:0001369	Arthritis
ORPHA:117	IL12A-AS1	101928376	HP:0200034	Papule
ORPHA:117	IL12A-AS1	101928376	HP:0100796	Orchitis
ORPHA:117	IL12A-AS1	101928376	HP:0003326	Myalgia
ORPHA:117	IL12A-AS1	101928376	HP:0012378	Fatigue
ORPHA:117	IL12A-AS1	101928376	HP:0002633	Vasculitis
ORPHA:117	IL12A-AS1	101928376	HP:0002829	Arthralgia
ORPHA:117	IL12A-AS1	101928376	HP:0100326	Immunologic hypersensitivity
ORPHA:117	IL12A-AS1	101928376	HP:0001269	Hemiparesis
ORPHA:117	IL12A-AS1	101928376	HP:0001945	Fever
ORPHA:117	IL12A-AS1	101928376	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	IL12A-AS1	101928376	HP:0001289	Confusion
ORPHA:117	IL12A-AS1	101928376	HP:0001287	Meningitis
ORPHA:117	IL12A-AS1	101928376	HP:0001288	Gait disturbance
ORPHA:117	IL12A-AS1	101928376	HP:0001482	Subcutaneous nodule
ORPHA:117	IL12A-AS1	101928376	HP:0002017	Nausea and vomiting
ORPHA:117	IL12A-AS1	101928376	HP:0002076	Migraine
ORPHA:117	UBAC2	337867	HP:0008066	Abnormal blistering of the skin
ORPHA:117	UBAC2	337867	HP:0004936	Venous thrombosis
ORPHA:117	UBAC2	337867	HP:0000155	Oral ulcer
ORPHA:117	UBAC2	337867	HP:0000613	Photophobia
ORPHA:117	UBAC2	337867	HP:0002027	Abdominal pain
ORPHA:117	UBAC2	337867	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	UBAC2	337867	HP:0001061	Acne
ORPHA:117	UBAC2	337867	HP:0001369	Arthritis
ORPHA:117	UBAC2	337867	HP:0200034	Papule
ORPHA:117	UBAC2	337867	HP:0100796	Orchitis
ORPHA:117	UBAC2	337867	HP:0003326	Myalgia
ORPHA:117	UBAC2	337867	HP:0012378	Fatigue
ORPHA:117	UBAC2	337867	HP:0002633	Vasculitis
ORPHA:117	UBAC2	337867	HP:0002829	Arthralgia
ORPHA:117	UBAC2	337867	HP:0100326	Immunologic hypersensitivity
ORPHA:117	UBAC2	337867	HP:0001269	Hemiparesis
ORPHA:117	UBAC2	337867	HP:0001945	Fever
ORPHA:117	UBAC2	337867	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	UBAC2	337867	HP:0001289	Confusion
ORPHA:117	UBAC2	337867	HP:0001287	Meningitis
ORPHA:117	UBAC2	337867	HP:0001288	Gait disturbance
ORPHA:117	UBAC2	337867	HP:0001482	Subcutaneous nodule
ORPHA:117	UBAC2	337867	HP:0002017	Nausea and vomiting
ORPHA:117	UBAC2	337867	HP:0002076	Migraine
ORPHA:117	CCR1	1230	HP:0008066	Abnormal blistering of the skin
ORPHA:117	CCR1	1230	HP:0004936	Venous thrombosis
ORPHA:117	CCR1	1230	HP:0000155	Oral ulcer
ORPHA:117	CCR1	1230	HP:0000613	Photophobia
ORPHA:117	CCR1	1230	HP:0002027	Abdominal pain
ORPHA:117	CCR1	1230	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	CCR1	1230	HP:0001061	Acne
ORPHA:117	CCR1	1230	HP:0001369	Arthritis
ORPHA:117	CCR1	1230	HP:0200034	Papule
ORPHA:117	CCR1	1230	HP:0100796	Orchitis
ORPHA:117	CCR1	1230	HP:0003326	Myalgia
ORPHA:117	CCR1	1230	HP:0012378	Fatigue
ORPHA:117	CCR1	1230	HP:0002633	Vasculitis
ORPHA:117	CCR1	1230	HP:0002829	Arthralgia
ORPHA:117	CCR1	1230	HP:0100326	Immunologic hypersensitivity
ORPHA:117	CCR1	1230	HP:0001269	Hemiparesis
ORPHA:117	CCR1	1230	HP:0001945	Fever
ORPHA:117	CCR1	1230	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	CCR1	1230	HP:0001289	Confusion
ORPHA:117	CCR1	1230	HP:0001287	Meningitis
ORPHA:117	CCR1	1230	HP:0001288	Gait disturbance
ORPHA:117	CCR1	1230	HP:0001482	Subcutaneous nodule
ORPHA:117	CCR1	1230	HP:0002017	Nausea and vomiting
ORPHA:117	CCR1	1230	HP:0002076	Migraine
ORPHA:117	KLRC4	8302	HP:0008066	Abnormal blistering of the skin
ORPHA:117	KLRC4	8302	HP:0004936	Venous thrombosis
ORPHA:117	KLRC4	8302	HP:0000155	Oral ulcer
ORPHA:117	KLRC4	8302	HP:0000613	Photophobia
ORPHA:117	KLRC4	8302	HP:0002027	Abdominal pain
ORPHA:117	KLRC4	8302	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	KLRC4	8302	HP:0001061	Acne
ORPHA:117	KLRC4	8302	HP:0001369	Arthritis
ORPHA:117	KLRC4	8302	HP:0200034	Papule
ORPHA:117	KLRC4	8302	HP:0100796	Orchitis
ORPHA:117	KLRC4	8302	HP:0003326	Myalgia
ORPHA:117	KLRC4	8302	HP:0012378	Fatigue
ORPHA:117	KLRC4	8302	HP:0002633	Vasculitis
ORPHA:117	KLRC4	8302	HP:0002829	Arthralgia
ORPHA:117	KLRC4	8302	HP:0100326	Immunologic hypersensitivity
ORPHA:117	KLRC4	8302	HP:0001269	Hemiparesis
ORPHA:117	KLRC4	8302	HP:0001945	Fever
ORPHA:117	KLRC4	8302	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	KLRC4	8302	HP:0001289	Confusion
ORPHA:117	KLRC4	8302	HP:0001287	Meningitis
ORPHA:117	KLRC4	8302	HP:0001288	Gait disturbance
ORPHA:117	KLRC4	8302	HP:0001482	Subcutaneous nodule
ORPHA:117	KLRC4	8302	HP:0002017	Nausea and vomiting
ORPHA:117	KLRC4	8302	HP:0002076	Migraine
ORPHA:117	C4A	720	HP:0008066	Abnormal blistering of the skin
ORPHA:117	C4A	720	HP:0004936	Venous thrombosis
ORPHA:117	C4A	720	HP:0000155	Oral ulcer
ORPHA:117	C4A	720	HP:0000613	Photophobia
ORPHA:117	C4A	720	HP:0002027	Abdominal pain
ORPHA:117	C4A	720	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	C4A	720	HP:0001061	Acne
ORPHA:117	C4A	720	HP:0001369	Arthritis
ORPHA:117	C4A	720	HP:0200034	Papule
ORPHA:117	C4A	720	HP:0100796	Orchitis
ORPHA:117	C4A	720	HP:0003326	Myalgia
ORPHA:117	C4A	720	HP:0012378	Fatigue
ORPHA:117	C4A	720	HP:0002633	Vasculitis
ORPHA:117	C4A	720	HP:0002829	Arthralgia
ORPHA:117	C4A	720	HP:0100326	Immunologic hypersensitivity
ORPHA:117	C4A	720	HP:0001269	Hemiparesis
ORPHA:117	C4A	720	HP:0001945	Fever
ORPHA:117	C4A	720	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	C4A	720	HP:0001289	Confusion
ORPHA:117	C4A	720	HP:0001287	Meningitis
ORPHA:117	C4A	720	HP:0001288	Gait disturbance
ORPHA:117	C4A	720	HP:0001482	Subcutaneous nodule
ORPHA:117	C4A	720	HP:0002017	Nausea and vomiting
ORPHA:117	C4A	720	HP:0002076	Migraine
ORPHA:117	MEFV	4210	HP:0008066	Abnormal blistering of the skin
ORPHA:117	MEFV	4210	HP:0004936	Venous thrombosis
ORPHA:117	MEFV	4210	HP:0000155	Oral ulcer
ORPHA:117	MEFV	4210	HP:0000613	Photophobia
ORPHA:117	MEFV	4210	HP:0002027	Abdominal pain
ORPHA:117	MEFV	4210	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	MEFV	4210	HP:0001061	Acne
ORPHA:117	MEFV	4210	HP:0001369	Arthritis
ORPHA:117	MEFV	4210	HP:0200034	Papule
ORPHA:117	MEFV	4210	HP:0100796	Orchitis
ORPHA:117	MEFV	4210	HP:0003326	Myalgia
ORPHA:117	MEFV	4210	HP:0012378	Fatigue
ORPHA:117	MEFV	4210	HP:0002633	Vasculitis
ORPHA:117	MEFV	4210	HP:0002829	Arthralgia
ORPHA:117	MEFV	4210	HP:0100326	Immunologic hypersensitivity
ORPHA:117	MEFV	4210	HP:0001269	Hemiparesis
ORPHA:117	MEFV	4210	HP:0001945	Fever
ORPHA:117	MEFV	4210	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	MEFV	4210	HP:0001289	Confusion
ORPHA:117	MEFV	4210	HP:0001287	Meningitis
ORPHA:117	MEFV	4210	HP:0001288	Gait disturbance
ORPHA:117	MEFV	4210	HP:0001482	Subcutaneous nodule
ORPHA:117	MEFV	4210	HP:0002017	Nausea and vomiting
ORPHA:117	MEFV	4210	HP:0002076	Migraine
ORPHA:117	IL23R	149233	HP:0008066	Abnormal blistering of the skin
ORPHA:117	IL23R	149233	HP:0004936	Venous thrombosis
ORPHA:117	IL23R	149233	HP:0000155	Oral ulcer
ORPHA:117	IL23R	149233	HP:0000613	Photophobia
ORPHA:117	IL23R	149233	HP:0002027	Abdominal pain
ORPHA:117	IL23R	149233	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	IL23R	149233	HP:0001061	Acne
ORPHA:117	IL23R	149233	HP:0001369	Arthritis
ORPHA:117	IL23R	149233	HP:0200034	Papule
ORPHA:117	IL23R	149233	HP:0100796	Orchitis
ORPHA:117	IL23R	149233	HP:0003326	Myalgia
ORPHA:117	IL23R	149233	HP:0012378	Fatigue
ORPHA:117	IL23R	149233	HP:0002633	Vasculitis
ORPHA:117	IL23R	149233	HP:0002829	Arthralgia
ORPHA:117	IL23R	149233	HP:0100326	Immunologic hypersensitivity
ORPHA:117	IL23R	149233	HP:0001269	Hemiparesis
ORPHA:117	IL23R	149233	HP:0001945	Fever
ORPHA:117	IL23R	149233	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	IL23R	149233	HP:0001289	Confusion
ORPHA:117	IL23R	149233	HP:0001287	Meningitis
ORPHA:117	IL23R	149233	HP:0001288	Gait disturbance
ORPHA:117	IL23R	149233	HP:0001482	Subcutaneous nodule
ORPHA:117	IL23R	149233	HP:0002017	Nausea and vomiting
ORPHA:117	IL23R	149233	HP:0002076	Migraine
ORPHA:117	STAT4	6775	HP:0008066	Abnormal blistering of the skin
ORPHA:117	STAT4	6775	HP:0004936	Venous thrombosis
ORPHA:117	STAT4	6775	HP:0000155	Oral ulcer
ORPHA:117	STAT4	6775	HP:0000613	Photophobia
ORPHA:117	STAT4	6775	HP:0002027	Abdominal pain
ORPHA:117	STAT4	6775	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	STAT4	6775	HP:0001061	Acne
ORPHA:117	STAT4	6775	HP:0001369	Arthritis
ORPHA:117	STAT4	6775	HP:0200034	Papule
ORPHA:117	STAT4	6775	HP:0100796	Orchitis
ORPHA:117	STAT4	6775	HP:0003326	Myalgia
ORPHA:117	STAT4	6775	HP:0012378	Fatigue
ORPHA:117	STAT4	6775	HP:0002633	Vasculitis
ORPHA:117	STAT4	6775	HP:0002829	Arthralgia
ORPHA:117	STAT4	6775	HP:0100326	Immunologic hypersensitivity
ORPHA:117	STAT4	6775	HP:0001269	Hemiparesis
ORPHA:117	STAT4	6775	HP:0001945	Fever
ORPHA:117	STAT4	6775	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	STAT4	6775	HP:0001289	Confusion
ORPHA:117	STAT4	6775	HP:0001287	Meningitis
ORPHA:117	STAT4	6775	HP:0001288	Gait disturbance
ORPHA:117	STAT4	6775	HP:0001482	Subcutaneous nodule
ORPHA:117	STAT4	6775	HP:0002017	Nausea and vomiting
ORPHA:117	STAT4	6775	HP:0002076	Migraine
ORPHA:117	TLR4	7099	HP:0008066	Abnormal blistering of the skin
ORPHA:117	TLR4	7099	HP:0004936	Venous thrombosis
ORPHA:117	TLR4	7099	HP:0000155	Oral ulcer
ORPHA:117	TLR4	7099	HP:0000613	Photophobia
ORPHA:117	TLR4	7099	HP:0002027	Abdominal pain
ORPHA:117	TLR4	7099	HP:0011107	Recurrent aphthous stomatitis
ORPHA:117	TLR4	7099	HP:0001061	Acne
ORPHA:117	TLR4	7099	HP:0001369	Arthritis
ORPHA:117	TLR4	7099	HP:0200034	Papule
ORPHA:117	TLR4	7099	HP:0100796	Orchitis
ORPHA:117	TLR4	7099	HP:0003326	Myalgia
ORPHA:117	TLR4	7099	HP:0012378	Fatigue
ORPHA:117	TLR4	7099	HP:0002633	Vasculitis
ORPHA:117	TLR4	7099	HP:0002829	Arthralgia
ORPHA:117	TLR4	7099	HP:0100326	Immunologic hypersensitivity
ORPHA:117	TLR4	7099	HP:0001269	Hemiparesis
ORPHA:117	TLR4	7099	HP:0001945	Fever
ORPHA:117	TLR4	7099	HP:0002239	Gastrointestinal hemorrhage
ORPHA:117	TLR4	7099	HP:0001289	Confusion
ORPHA:117	TLR4	7099	HP:0001287	Meningitis
ORPHA:117	TLR4	7099	HP:0001288	Gait disturbance
ORPHA:117	TLR4	7099	HP:0001482	Subcutaneous nodule
ORPHA:117	TLR4	7099	HP:0002017	Nausea and vomiting
ORPHA:117	TLR4	7099	HP:0002076	Migraine
OMIM:222800	BPGM	669	HP:0001081	Cholelithiasis
OMIM:222800	BPGM	669	HP:0001744	Splenomegaly
OMIM:222800	BPGM	669	HP:0001082	Cholecystitis
OMIM:222800	BPGM	669	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:222800	BPGM	669	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:222800	BPGM	669	HP:0000952	Jaundice
OMIM:222800	BPGM	669	HP:0000007	Autosomal recessive inheritance
OMIM:222800	BPGM	669	HP:0001897	Normocytic anemia
OMIM:222800	BPGM	669	HP:0001895	Normochromic anemia
OMIM:118700	NKX2-1	7080	HP:0000006	Autosomal dominant inheritance
OMIM:118700	NKX2-1	7080	HP:0003812	Phenotypic variability
OMIM:118700	NKX2-1	7080	HP:0000739	Anxiety
OMIM:118700	NKX2-1	7080	HP:0002072	Chorea
OMIM:118700	NKX2-1	7080	HP:0001288	Gait disturbance
OMIM:118700	NKX2-1	7080	HP:0001270	Motor delay
OMIM:118700	NKX2-1	7080	HP:0003621	Juvenile onset
ORPHA:2182	L1CAM	3897	HP:0000238	Hydrocephalus
ORPHA:2182	L1CAM	3897	HP:0001257	Spasticity
ORPHA:2182	L1CAM	3897	HP:0002410	Aqueductal stenosis
ORPHA:2182	L1CAM	3897	HP:0002516	Increased intracranial pressure
ORPHA:2182	L1CAM	3897	HP:0001181	Adducted thumb
ORPHA:2182	L1CAM	3897	HP:0010864	Intellectual disability, severe
ORPHA:2182	L1CAM	3897	HP:0004374	Hemiplegia/hemiparesis
OMIM:615387	TRAC	28755	HP:0001508	Failure to thrive
OMIM:615387	TRAC	28755	HP:0002719	Recurrent infections
OMIM:615387	TRAC	28755	HP:0002960	Autoimmunity
OMIM:615387	TRAC	28755	HP:0003593	Infantile onset
OMIM:615387	TRAC	28755	HP:0002716	Lymphadenopathy
OMIM:615387	TRAC	28755	HP:0000007	Autosomal recessive inheritance
OMIM:613925	HEPACAM	220296	HP:0001251	Ataxia
OMIM:613925	HEPACAM	220296	HP:0001355	Megalencephaly
OMIM:613925	HEPACAM	220296	HP:0002119	Ventriculomegaly
OMIM:613925	HEPACAM	220296	HP:0002059	Cerebral atrophy
OMIM:613925	HEPACAM	220296	HP:0007341	Diffuse swelling of cerebral white matter
OMIM:613925	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:613925	HEPACAM	220296	HP:0000007	Autosomal recessive inheritance
OMIM:613925	HEPACAM	220296	HP:0001249	Intellectual disability
OMIM:613925	HEPACAM	220296	HP:0002344	Progressive neurologic deterioration
OMIM:613925	HEPACAM	220296	HP:0001257	Spasticity
OMIM:613925	HEPACAM	220296	HP:0001260	Dysarthria
OMIM:613925	HEPACAM	220296	HP:0001272	Cerebellar atrophy
OMIM:613925	HEPACAM	220296	HP:0003677	Slow progression
OMIM:613925	HEPACAM	220296	HP:0001250	Seizures
OMIM:613925	HEPACAM	220296	HP:0001270	Motor delay
OMIM:614817	FAN1	22909	HP:0001970	Tubulointerstitial nephritis
OMIM:614817	FAN1	22909	HP:0000090	Nephronophthisis
OMIM:614817	FAN1	22909	HP:0000093	Proteinuria
OMIM:614817	FAN1	22909	HP:0003076	Glycosuria
OMIM:614817	FAN1	22909	HP:0003676	Progressive
OMIM:614817	FAN1	22909	HP:0003259	Elevated serum creatinine
OMIM:614817	FAN1	22909	HP:0000007	Autosomal recessive inheritance
OMIM:614817	FAN1	22909	HP:0003138	Increased blood urea nitrogen
OMIM:614817	FAN1	22909	HP:0003774	Stage 5 chronic kidney disease
OMIM:610682	CRTAP	10491	HP:0002645	Wormian bones
OMIM:610682	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:610682	CRTAP	10491	HP:0003179	Protrusio acetabuli
OMIM:610682	CRTAP	10491	HP:0005474	Decreased calvarial ossification
OMIM:610682	CRTAP	10491	HP:0002953	Vertebral compression fractures
OMIM:610682	CRTAP	10491	HP:0000270	Delayed cranial suture closure
OMIM:610682	CRTAP	10491	HP:0000938	Osteopenia
OMIM:610682	CRTAP	10491	HP:0010537	Wide cranial sutures
OMIM:610682	CRTAP	10491	HP:0000767	Pectus excavatum
OMIM:610682	CRTAP	10491	HP:0006367	Crumpled long bones
OMIM:610682	CRTAP	10491	HP:0000260	Wide anterior fontanel
OMIM:610682	CRTAP	10491	HP:0001522	Death in infancy
OMIM:610682	CRTAP	10491	HP:0000520	Proptosis
OMIM:610682	CRTAP	10491	HP:0006640	Multiple rib fractures
OMIM:610682	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:610682	CRTAP	10491	HP:0000774	Narrow chest
OMIM:610682	CRTAP	10491	HP:0001623	Breech presentation
OMIM:610682	CRTAP	10491	HP:0000311	Round face
OMIM:610682	CRTAP	10491	HP:0003783	Externally rotated/abducted legs
OMIM:610682	CRTAP	10491	HP:0005304	Hypoplastic pulmonary veins
OMIM:610682	CRTAP	10491	HP:0008905	Rhizomelia
OMIM:610682	CRTAP	10491	HP:0002983	Micromelia
OMIM:610682	CRTAP	10491	HP:0005855	Multiple prenatal fractures
OMIM:610682	CRTAP	10491	HP:0002650	Scoliosis
OMIM:610682	CRTAP	10491	HP:0002812	Coxa vara
OMIM:610682	CRTAP	10491	HP:0000343	Long philtrum
OMIM:610682	CRTAP	10491	HP:0002979	Bowing of the legs
OMIM:610682	CRTAP	10491	HP:0000126	Hydronephrosis
OMIM:610682	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:610682	CRTAP	10491	HP:0004960	Absent pulmonary artery
OMIM:616917	PIGG	54872	HP:0000750	Delayed speech and language development
OMIM:616917	PIGG	54872	HP:0001250	Seizures
OMIM:616917	PIGG	54872	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616917	PIGG	54872	HP:0011193	EEG with focal spikes
OMIM:616917	PIGG	54872	HP:0001321	Cerebellar hypoplasia
OMIM:616917	PIGG	54872	HP:0000007	Autosomal recessive inheritance
OMIM:616917	PIGG	54872	HP:0001263	Global developmental delay
OMIM:616917	PIGG	54872	HP:0002059	Cerebral atrophy
OMIM:616917	PIGG	54872	HP:0002187	Intellectual disability, profound
OMIM:616917	PIGG	54872	HP:0006829	Severe muscular hypotonia
OMIM:616917	PIGG	54872	HP:0001265	Hyporeflexia
OMIM:616917	PIGG	54872	HP:0001290	Generalized hypotonia
OMIM:616917	PIGG	54872	HP:0001511	Intrauterine growth retardation
OMIM:616917	PIGG	54872	HP:0001251	Ataxia
OMIM:616917	PIGG	54872	HP:0003577	Congenital onset
OMIM:116600	EPHA2	1969	HP:0010700	Total cataract
OMIM:116600	EPHA2	1969	HP:0001139	Choroideremia
OMIM:116600	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:116600	EPHA2	1969	HP:0000519	Congenital cataract
OMIM:116600	EPHA2	1969	HP:0000545	Myopia
OMIM:615122	CD27	939	HP:0002716	Lymphadenopathy
OMIM:615122	CD27	939	HP:0003828	Variable expressivity
OMIM:615122	CD27	939	HP:0000007	Autosomal recessive inheritance
OMIM:615122	CD27	939	HP:0002240	Hepatomegaly
OMIM:615122	CD27	939	HP:0004313	Decreased antibody level in blood
OMIM:615122	CD27	939	HP:0001744	Splenomegaly
OMIM:615122	CD27	939	HP:0001945	Fever
OMIM:616451	IBA57	200205	HP:0001258	Spastic paraplegia
OMIM:616451	IBA57	200205	HP:0002936	Distal sensory impairment
OMIM:616451	IBA57	200205	HP:0000505	Visual impairment
OMIM:616451	IBA57	200205	HP:0000648	Optic atrophy
OMIM:616451	IBA57	200205	HP:0003487	Babinski sign
OMIM:616451	IBA57	200205	HP:0003677	Slow progression
OMIM:616451	IBA57	200205	HP:0001123	Visual field defect
OMIM:616451	IBA57	200205	HP:0000007	Autosomal recessive inheritance
OMIM:616451	IBA57	200205	HP:0003477	Peripheral axonal neuropathy
OMIM:208550	TBX21	30009	HP:0012042	Aspirin-induced asthma
OMIM:208550	TBX21	30009	HP:0000007	Autosomal recessive inheritance
OMIM:208550	TBX21	30009	HP:0002099	Asthma
OMIM:208550	TBX21	30009	HP:0100582	Nasal polyposis
OMIM:614495	KLHL3	26249	HP:0000007	Autosomal recessive inheritance
OMIM:614495	KLHL3	26249	HP:0011423	Hyperchloremia
OMIM:614495	KLHL3	26249	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:614495	KLHL3	26249	HP:0000006	Autosomal dominant inheritance
OMIM:614495	KLHL3	26249	HP:0000822	Hypertension
OMIM:614495	KLHL3	26249	HP:0002153	Hyperkalemia
OMIM:614495	KLHL3	26249	HP:0008242	Pseudohypoaldosteronism
OMIM:615438	LARS	51520	HP:0001508	Failure to thrive
OMIM:615438	LARS	51520	HP:0000007	Autosomal recessive inheritance
OMIM:615438	LARS	51520	HP:0003256	Abnormality of the coagulation cascade
OMIM:615438	LARS	51520	HP:0001250	Seizures
OMIM:615438	LARS	51520	HP:0001397	Hepatic steatosis
OMIM:615438	LARS	51520	HP:0002910	Elevated hepatic transaminases
OMIM:615438	LARS	51520	HP:0001263	Global developmental delay
OMIM:615438	LARS	51520	HP:0001972	Macrocytic anemia
OMIM:615438	LARS	51520	HP:0002240	Hepatomegaly
OMIM:615438	LARS	51520	HP:0001290	Generalized hypotonia
OMIM:615438	LARS	51520	HP:0000252	Microcephaly
OMIM:615438	LARS	51520	HP:0001903	Anemia
OMIM:615438	LARS	51520	HP:0003128	Lactic acidosis
OMIM:615438	LARS	51520	HP:0006554	Acute hepatic failure
OMIM:300087	XIST	7503	HP:0005268	Spontaneous abortion
OMIM:613674	SOX17	64321	HP:0000006	Autosomal dominant inheritance
OMIM:613674	SOX17	64321	HP:0000126	Hydronephrosis
OMIM:613674	SOX17	64321	HP:0001561	Polyhydramnios
OMIM:613674	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:613674	SOX17	64321	HP:0000072	Hydroureter
OMIM:613500	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:613500	IGLL1	3543	HP:0001287	Meningitis
OMIM:613500	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:613500	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:613500	IGLL1	3543	HP:0003593	Infantile onset
OMIM:613500	IGLL1	3543	HP:0006532	Recurrent pneumonia
OMIM:611615	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:611615	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611615	FKTN	2218	HP:0003701	Proximal muscle weakness
ORPHA:2498	FGF16	8823	HP:0005867	Fused fourth and fifth metacarpals
OMIM:614607	ARID1A	8289	HP:0000445	Wide nose
OMIM:614607	ARID1A	8289	HP:0001263	Global developmental delay
OMIM:614607	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:614607	ARID1A	8289	HP:0001156	Brachydactyly
OMIM:614607	ARID1A	8289	HP:0000158	Macroglossia
OMIM:614607	ARID1A	8289	HP:0000505	Visual impairment
OMIM:614607	ARID1A	8289	HP:0000574	Thick eyebrow
OMIM:614607	ARID1A	8289	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:614607	ARID1A	8289	HP:0000750	Delayed speech and language development
OMIM:614607	ARID1A	8289	HP:0001792	Small nail
OMIM:614607	ARID1A	8289	HP:0000377	Abnormality of the pinna
OMIM:614607	ARID1A	8289	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614607	ARID1A	8289	HP:0002750	Delayed skeletal maturation
OMIM:614607	ARID1A	8289	HP:0001290	Generalized hypotonia
OMIM:614607	ARID1A	8289	HP:0005280	Depressed nasal bridge
OMIM:614607	ARID1A	8289	HP:0000998	Hypertrichosis
OMIM:614607	ARID1A	8289	HP:0000294	Low anterior hairline
OMIM:614607	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:614607	ARID1A	8289	HP:0000463	Anteverted nares
OMIM:124900	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:124900	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:124900	DIAPH1	1729	HP:0008542	Low-frequency hearing loss
OMIM:124900	DIAPH1	1729	HP:0011463	Childhood onset
OMIM:124900	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:616707	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:230000	FUCA1	2517	HP:0000365	Hearing impairment
OMIM:230000	FUCA1	2517	HP:0000007	Autosomal recessive inheritance
OMIM:230000	FUCA1	2517	HP:0100790	Hernia
OMIM:230000	FUCA1	2517	HP:0001271	Polyneuropathy
OMIM:230000	FUCA1	2517	HP:0000574	Thick eyebrow
OMIM:230000	FUCA1	2517	HP:0000970	Anhidrosis
OMIM:230000	FUCA1	2517	HP:0001552	Barrel-shaped chest
OMIM:230000	FUCA1	2517	HP:0001250	Seizures
OMIM:230000	FUCA1	2517	HP:0002205	Recurrent respiratory infections
OMIM:230000	FUCA1	2517	HP:0008430	Anterior beaking of lumbar vertebrae
OMIM:230000	FUCA1	2517	HP:0010471	Oligosacchariduria
OMIM:230000	FUCA1	2517	HP:0000914	Shield chest
OMIM:230000	FUCA1	2517	HP:0004558	Cervical platyspondyly
OMIM:230000	FUCA1	2517	HP:0002938	Lumbar hyperlordosis
OMIM:230000	FUCA1	2517	HP:0004298	Abnormality of the abdominal wall
OMIM:230000	FUCA1	2517	HP:0001371	Flexion contracture
OMIM:230000	FUCA1	2517	HP:0004322	Short stature
OMIM:230000	FUCA1	2517	HP:0000445	Wide nose
OMIM:230000	FUCA1	2517	HP:0012236	Elevated sweat chloride
OMIM:230000	FUCA1	2517	HP:0001249	Intellectual disability
OMIM:230000	FUCA1	2517	HP:0002673	Coxa valga
OMIM:230000	FUCA1	2517	HP:0005453	Absent/hypoplastic paranasal sinuses
OMIM:230000	FUCA1	2517	HP:0000943	Dysostosis multiplex
OMIM:230000	FUCA1	2517	HP:0001014	Angiokeratoma
OMIM:230000	FUCA1	2517	HP:0001640	Cardiomegaly
OMIM:230000	FUCA1	2517	HP:0000158	Macroglossia
OMIM:230000	FUCA1	2517	HP:0000958	Dry skin
OMIM:230000	FUCA1	2517	HP:0002059	Cerebral atrophy
OMIM:230000	FUCA1	2517	HP:0011220	Prominent forehead
OMIM:230000	FUCA1	2517	HP:0002007	Frontal bossing
OMIM:230000	FUCA1	2517	HP:0004630	Anterior beaking of thoracic vertebrae
OMIM:230000	FUCA1	2517	HP:0008436	Absent/hypoplastic coccyx
OMIM:230000	FUCA1	2517	HP:0002510	Spastic tetraplegia
OMIM:230000	FUCA1	2517	HP:0000280	Coarse facial features
OMIM:230000	FUCA1	2517	HP:0002650	Scoliosis
OMIM:230000	FUCA1	2517	HP:0001922	Vacuolated lymphocytes
OMIM:230000	FUCA1	2517	HP:0000503	Tortuosity of conjunctival vessels
OMIM:230000	FUCA1	2517	HP:0002240	Hepatomegaly
OMIM:230000	FUCA1	2517	HP:0000179	Thick lower lip vermilion
OMIM:230000	FUCA1	2517	HP:0000316	Hypertelorism
OMIM:230000	FUCA1	2517	HP:0001744	Splenomegaly
OMIM:309541	HCFC1	3054	HP:0003593	Infantile onset
OMIM:309541	HCFC1	3054	HP:0002912	Methylmalonic acidemia
OMIM:309541	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:309541	HCFC1	3054	HP:0002521	Hypsarrhythmia
OMIM:309541	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:309541	HCFC1	3054	HP:0000248	Brachycephaly
OMIM:309541	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:309541	HCFC1	3054	HP:0001508	Failure to thrive
OMIM:309541	HCFC1	3054	HP:0000252	Microcephaly
OMIM:309541	HCFC1	3054	HP:0012120	Methylmalonic aciduria
OMIM:309541	HCFC1	3054	HP:0001290	Generalized hypotonia
OMIM:309541	HCFC1	3054	HP:0004322	Short stature
OMIM:613839	DHFR	1719	HP:0002059	Cerebral atrophy
OMIM:613839	DHFR	1719	HP:0002121	Absence seizures
OMIM:613839	DHFR	1719	HP:0012448	Delayed myelination
OMIM:613839	DHFR	1719	HP:0000007	Autosomal recessive inheritance
OMIM:613839	DHFR	1719	HP:0001290	Generalized hypotonia
OMIM:613839	DHFR	1719	HP:0005484	Postnatal microcephaly
OMIM:613839	DHFR	1719	HP:0025097	Eyelid myoclonus
OMIM:613839	DHFR	1719	HP:0001251	Ataxia
OMIM:613839	DHFR	1719	HP:0001263	Global developmental delay
OMIM:613839	DHFR	1719	HP:0001873	Thrombocytopenia
OMIM:613839	DHFR	1719	HP:0001889	Megaloblastic anemia
OMIM:613839	DHFR	1719	HP:0011968	Feeding difficulties
OMIM:613839	DHFR	1719	HP:0000980	Pallor
OMIM:613839	DHFR	1719	HP:0002421	Poor head control
OMIM:613839	DHFR	1719	HP:0001876	Pancytopenia
OMIM:613839	DHFR	1719	HP:0002240	Hepatomegaly
OMIM:613839	DHFR	1719	HP:0000952	Jaundice
OMIM:613839	DHFR	1719	HP:0003828	Variable expressivity
OMIM:254600	MPO	4353	HP:0000007	Autosomal recessive inheritance
OMIM:254600	MPO	4353	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:254600	MPO	4353	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254600	MPO	4353	HP:0002715	Abnormality of the immune system
OMIM:617333	BRPF1	7862	HP:0000311	Round face
OMIM:617333	BRPF1	7862	HP:0000343	Long philtrum
OMIM:617333	BRPF1	7862	HP:0000750	Delayed speech and language development
OMIM:617333	BRPF1	7862	HP:0000581	Blepharophimosis
OMIM:617333	BRPF1	7862	HP:0000316	Hypertelorism
OMIM:617333	BRPF1	7862	HP:0000486	Strabismus
OMIM:617333	BRPF1	7862	HP:0001762	Talipes equinovarus
OMIM:617333	BRPF1	7862	HP:0003828	Variable expressivity
OMIM:617333	BRPF1	7862	HP:0000377	Abnormality of the pinna
OMIM:617333	BRPF1	7862	HP:0000508	Ptosis
OMIM:617333	BRPF1	7862	HP:0001263	Global developmental delay
OMIM:617333	BRPF1	7862	HP:0000006	Autosomal dominant inheritance
OMIM:617333	BRPF1	7862	HP:0003577	Congenital onset
OMIM:617333	BRPF1	7862	HP:0000337	Broad forehead
OMIM:617333	BRPF1	7862	HP:0000494	Downslanted palpebral fissures
OMIM:617333	BRPF1	7862	HP:0000322	Short philtrum
OMIM:617333	BRPF1	7862	HP:0000160	Narrow mouth
OMIM:617333	BRPF1	7862	HP:0000154	Wide mouth
OMIM:617333	BRPF1	7862	HP:0001290	Generalized hypotonia
OMIM:617333	BRPF1	7862	HP:0011968	Feeding difficulties
OMIM:617333	BRPF1	7862	HP:0012368	Flat face
OMIM:617333	BRPF1	7862	HP:0000431	Wide nasal bridge
OMIM:617333	BRPF1	7862	HP:0002714	Downturned corners of mouth
OMIM:617333	BRPF1	7862	HP:0012385	Camptodactyly
OMIM:617333	BRPF1	7862	HP:0001249	Intellectual disability
OMIM:611554	RAF1	5894	HP:0000958	Dry skin
OMIM:611554	RAF1	5894	HP:0000286	Epicanthus
OMIM:611554	RAF1	5894	HP:0002212	Curly hair
OMIM:611554	RAF1	5894	HP:0002967	Cubitus valgus
OMIM:611554	RAF1	5894	HP:0000766	Abnormality of the sternum
OMIM:611554	RAF1	5894	HP:0000957	Cafe-au-lait spot
OMIM:611554	RAF1	5894	HP:0000465	Webbed neck
OMIM:611554	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:611554	RAF1	5894	HP:0000268	Dolichocephaly
OMIM:611554	RAF1	5894	HP:0001003	Multiple lentigines
OMIM:611554	RAF1	5894	HP:0000179	Thick lower lip vermilion
OMIM:611554	RAF1	5894	HP:0000316	Hypertelorism
OMIM:611554	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611554	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611554	RAF1	5894	HP:0000369	Low-set ears
OMIM:611554	RAF1	5894	HP:0000470	Short neck
OMIM:611554	RAF1	5894	HP:0005280	Depressed nasal bridge
OMIM:611554	RAF1	5894	HP:0000303	Mandibular prognathia
OMIM:611554	RAF1	5894	HP:0004322	Short stature
OMIM:614852	CEP152	22995	HP:0000718	Aggressive behavior
OMIM:614852	CEP152	22995	HP:0100710	Impulsivity
OMIM:614852	CEP152	22995	HP:0000252	Microcephaly
OMIM:614852	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:614852	CEP152	22995	HP:0001335	Bimanual synkinesia
OMIM:600920	SCARF2	91179	HP:0001195	Single umbilical artery
OMIM:600920	SCARF2	91179	HP:0001786	Narrow foot
OMIM:600920	SCARF2	91179	HP:0003083	Dislocated radial head
OMIM:600920	SCARF2	91179	HP:0002987	Elbow flexion contracture
OMIM:600920	SCARF2	91179	HP:0001601	Laryngomalacia
OMIM:600920	SCARF2	91179	HP:0000272	Malar flattening
OMIM:600920	SCARF2	91179	HP:0000460	Narrow nose
OMIM:600920	SCARF2	91179	HP:0005280	Depressed nasal bridge
OMIM:600920	SCARF2	91179	HP:0002705	High, narrow palate
OMIM:600920	SCARF2	91179	HP:0000767	Pectus excavatum
OMIM:600920	SCARF2	91179	HP:0000895	Lateral clavicle hook
OMIM:600920	SCARF2	91179	HP:0003031	Ulnar bowing
OMIM:600920	SCARF2	91179	HP:0000175	Cleft palate
OMIM:600920	SCARF2	91179	HP:0001166	Arachnodactyly
OMIM:600920	SCARF2	91179	HP:0000232	Everted lower lip vermilion
OMIM:600920	SCARF2	91179	HP:0000581	Blepharophimosis
OMIM:600920	SCARF2	91179	HP:0002980	Femoral bowing
OMIM:600920	SCARF2	91179	HP:0010307	Stridor
OMIM:600920	SCARF2	91179	HP:0000411	Protruding ear
OMIM:600920	SCARF2	91179	HP:0010493	Long metacarpals
OMIM:600920	SCARF2	91179	HP:0000007	Autosomal recessive inheritance
OMIM:600920	SCARF2	91179	HP:0001822	Hallux valgus
OMIM:600920	SCARF2	91179	HP:0000534	Abnormality of the eyebrow
OMIM:600920	SCARF2	91179	HP:0005033	Distal ulnar hypoplasia
OMIM:600920	SCARF2	91179	HP:0000430	Underdeveloped nasal alae
OMIM:600920	SCARF2	91179	HP:0001762	Talipes equinovarus
OMIM:600920	SCARF2	91179	HP:0001363	Craniosynostosis
OMIM:600920	SCARF2	91179	HP:0001836	Camptodactyly of toe
OMIM:600920	SCARF2	91179	HP:0001847	Long hallux
OMIM:600920	SCARF2	91179	HP:0006380	Knee flexion contracture
OMIM:600920	SCARF2	91179	HP:0000327	Hypoplasia of the maxilla
OMIM:600920	SCARF2	91179	HP:0009473	Joint contracture of the hand
OMIM:600920	SCARF2	91179	HP:0000678	Dental crowding
OMIM:600920	SCARF2	91179	HP:0000883	Thin ribs
OMIM:600920	SCARF2	91179	HP:0003100	Slender long bone
OMIM:600920	SCARF2	91179	HP:0006236	Slender metacarpals
OMIM:600920	SCARF2	91179	HP:0006633	Glenoid fossa hypoplasia
OMIM:251120	MCEE	84693	HP:0002020	Gastroesophageal reflux
OMIM:251120	MCEE	84693	HP:0012120	Methylmalonic aciduria
OMIM:251120	MCEE	84693	HP:0000007	Autosomal recessive inheritance
OMIM:251120	MCEE	84693	HP:0001944	Dehydration
OMIM:251120	MCEE	84693	HP:0001942	Metabolic acidosis
OMIM:251120	MCEE	84693	HP:0002912	Methylmalonic acidemia
OMIM:251120	MCEE	84693	HP:0001508	Failure to thrive
OMIM:251120	MCEE	84693	HP:0002919	Ketonuria
OMIM:617232	POGLUT1	56983	HP:0002093	Respiratory insufficiency
OMIM:617232	POGLUT1	56983	HP:0000007	Autosomal recessive inheritance
OMIM:617232	POGLUT1	56983	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:617232	POGLUT1	56983	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617232	POGLUT1	56983	HP:0003677	Slow progression
OMIM:617232	POGLUT1	56983	HP:0003691	Scapular winging
OMIM:278300	XDH	7498	HP:0010934	Xanthinuria
OMIM:278300	XDH	7498	HP:0003198	Myopathy
OMIM:278300	XDH	7498	HP:0000804	Xanthine nephrolithiasis
OMIM:278300	XDH	7498	HP:0000007	Autosomal recessive inheritance
OMIM:278300	XDH	7498	HP:0012330	Pyelonephritis
OMIM:278300	XDH	7498	HP:0000126	Hydronephrosis
OMIM:278300	XDH	7498	HP:0003534	Reduced xanthine dehydrogenase activity
OMIM:616219	COL25A1	84570	HP:0003577	Congenital onset
OMIM:616219	COL25A1	84570	HP:0000508	Ptosis
OMIM:616219	COL25A1	84570	HP:0000007	Autosomal recessive inheritance
OMIM:177820	GP1BA	2811	HP:0004854	Intermittent thrombocytopenia
OMIM:177820	GP1BA	2811	HP:0003010	Prolonged bleeding time
OMIM:177820	GP1BA	2811	HP:0000006	Autosomal dominant inheritance
ORPHA:959	SALL4	57167	HP:0001177	Preaxial hand polydactyly
ORPHA:959	SALL4	57167	HP:0010109	Short hallux
ORPHA:959	SALL4	57167	HP:0000405	Conductive hearing impairment
ORPHA:959	SALL4	57167	HP:0000588	Optic nerve coloboma
ORPHA:959	SALL4	57167	HP:0010059	Broad hallux phalanx
ORPHA:959	SALL4	57167	HP:0000486	Strabismus
ORPHA:959	SALL4	57167	HP:0001852	Sandal gap
ORPHA:959	SALL4	57167	HP:0000505	Visual impairment
ORPHA:959	SALL4	57167	HP:0003022	Hypoplasia of the ulna
ORPHA:959	SALL4	57167	HP:0000085	Horseshoe kidney
ORPHA:959	SALL4	57167	HP:0007766	Optic disc hypoplasia
ORPHA:959	SALL4	57167	HP:0000015	Bladder diverticulum
ORPHA:959	SALL4	57167	HP:0012745	Short palpebral fissure
ORPHA:959	SALL4	57167	HP:0008678	Renal hypoplasia/aplasia
ORPHA:959	SALL4	57167	HP:0009650	Short distal phalanx of the thumb
ORPHA:959	SALL4	57167	HP:0004736	Crossed fused renal ectopia
ORPHA:959	SALL4	57167	HP:0001199	Triphalangeal thumb
ORPHA:959	SALL4	57167	HP:0000407	Sensorineural hearing impairment
ORPHA:959	SALL4	57167	HP:0004059	Radial club hand
ORPHA:959	SALL4	57167	HP:0004712	Renal malrotation
OMIM:203800	ALMS1	7840	HP:0001155	Abnormality of the hand
OMIM:203800	ALMS1	7840	HP:0002650	Scoliosis
OMIM:203800	ALMS1	7840	HP:0000842	Hyperinsulinemia
OMIM:203800	ALMS1	7840	HP:0002621	Atherosclerosis
OMIM:203800	ALMS1	7840	HP:0000771	Gynecomastia
OMIM:203800	ALMS1	7840	HP:0005987	Multinodular goiter
OMIM:203800	ALMS1	7840	HP:0001596	Alopecia
OMIM:203800	ALMS1	7840	HP:0002808	Kyphosis
OMIM:203800	ALMS1	7840	HP:0001635	Congestive heart failure
OMIM:203800	ALMS1	7840	HP:0006532	Recurrent pneumonia
OMIM:203800	ALMS1	7840	HP:0000956	Acanthosis nigricans
OMIM:203800	ALMS1	7840	HP:0000007	Autosomal recessive inheritance
OMIM:203800	ALMS1	7840	HP:0001970	Tubulointerstitial nephritis
OMIM:203800	ALMS1	7840	HP:0000083	Renal insufficiency
OMIM:203800	ALMS1	7840	HP:0000230	Gingivitis
OMIM:203800	ALMS1	7840	HP:0001397	Hepatic steatosis
OMIM:203800	ALMS1	7840	HP:0005616	Accelerated skeletal maturation
OMIM:203800	ALMS1	7840	HP:0000408	Progressive sensorineural hearing impairment
OMIM:203800	ALMS1	7840	HP:0000873	Diabetes insipidus
OMIM:203800	ALMS1	7840	HP:0001644	Dilated cardiomyopathy
OMIM:203800	ALMS1	7840	HP:0000523	Subcapsular cataract
OMIM:203800	ALMS1	7840	HP:0000822	Hypertension
OMIM:203800	ALMS1	7840	HP:0000580	Pigmentary retinopathy
OMIM:203800	ALMS1	7840	HP:0000613	Photophobia
OMIM:203800	ALMS1	7840	HP:0000164	Abnormality of the dentition
OMIM:203800	ALMS1	7840	HP:0004438	Hyperostosis frontalis interna
OMIM:203800	ALMS1	7840	HP:0000548	Cone/cone-rod dystrophy
OMIM:203800	ALMS1	7840	HP:0001133	Constriction of peripheral visual field
OMIM:203800	ALMS1	7840	HP:0000639	Nystagmus
OMIM:203800	ALMS1	7840	HP:0001263	Global developmental delay
OMIM:203800	ALMS1	7840	HP:0000123	Nephritis
OMIM:203800	ALMS1	7840	HP:0000824	Growth hormone deficiency
OMIM:203800	ALMS1	7840	HP:0200120	Chronic active hepatitis
OMIM:203800	ALMS1	7840	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:203800	ALMS1	7840	HP:0000388	Otitis media
OMIM:203800	ALMS1	7840	HP:0000815	Hypergonadotropic hypogonadism
OMIM:203800	ALMS1	7840	HP:0001956	Truncal obesity
OMIM:203800	ALMS1	7840	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:203800	ALMS1	7840	HP:0000821	Hypothyroidism
OMIM:203800	ALMS1	7840	HP:0000618	Blindness
OMIM:203800	ALMS1	7840	HP:0001763	Pes planus
OMIM:203800	ALMS1	7840	HP:0002149	Hyperuricemia
OMIM:203800	ALMS1	7840	HP:0002240	Hepatomegaly
OMIM:203800	ALMS1	7840	HP:0002910	Elevated hepatic transaminases
OMIM:203800	ALMS1	7840	HP:0000858	Menstrual irregularities
OMIM:203800	ALMS1	7840	HP:0002099	Asthma
OMIM:203800	ALMS1	7840	HP:0002155	Hypertriglyceridemia
OMIM:203800	ALMS1	7840	HP:0004322	Short stature
ORPHA:79395	LOR	4014	HP:0007465	Honeycomb palmoplantar keratoderma
ORPHA:79395	LOR	4014	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
ORPHA:494	GJB2	2706	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:494	GJB2	2706	HP:0007460	Autoamputation of digits
ORPHA:494	GJB2	2706	HP:0000407	Sensorineural hearing impairment
ORPHA:494	GJB2	2706	HP:0007465	Honeycomb palmoplantar keratoderma
ORPHA:494	GJB2	2706	HP:0100543	Cognitive impairment
ORPHA:494	GJB2	2706	HP:0009775	Amniotic constriction ring
OMIM:192600	MYH6	4624	HP:0001682	Subvalvular aortic stenosis
OMIM:192600	MYH6	4624	HP:0011675	Arrhythmia
OMIM:192600	MYH6	4624	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	MYH6	4624	HP:0001699	Sudden death
OMIM:192600	MYH6	4624	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:192600	MYH7	4625	HP:0001682	Subvalvular aortic stenosis
OMIM:192600	MYH7	4625	HP:0011675	Arrhythmia
OMIM:192600	MYH7	4625	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	MYH7	4625	HP:0001699	Sudden death
OMIM:192600	MYH7	4625	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:192600	MYLK2	85366	HP:0001682	Subvalvular aortic stenosis
OMIM:192600	MYLK2	85366	HP:0011675	Arrhythmia
OMIM:192600	MYLK2	85366	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	MYLK2	85366	HP:0001699	Sudden death
OMIM:192600	MYLK2	85366	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	MYLK2	85366	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYLK2	85366	HP:0001635	Congestive heart failure
OMIM:192600	CAV3	859	HP:0001682	Subvalvular aortic stenosis
OMIM:192600	CAV3	859	HP:0011675	Arrhythmia
OMIM:192600	CAV3	859	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	CAV3	859	HP:0001699	Sudden death
OMIM:192600	CAV3	859	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:192600	CAV3	859	HP:0001635	Congestive heart failure
ORPHA:122	FLCN	201163	HP:0010609	Skin tags
ORPHA:122	FLCN	201163	HP:0001012	Multiple lipomas
ORPHA:122	FLCN	201163	HP:0100632	Pulmonary sequestration
ORPHA:122	FLCN	201163	HP:0200034	Papule
ORPHA:122	FLCN	201163	HP:0007703	Abnormality of retinal pigmentation
ORPHA:122	FLCN	201163	HP:0002097	Emphysema
OMIM:615830	PRKACA	5566	HP:0001007	Hirsutism
OMIM:615830	PRKACA	5566	HP:0000939	Osteoporosis
OMIM:615830	PRKACA	5566	HP:0001596	Alopecia
OMIM:615830	PRKACA	5566	HP:0025383	Dorsocervical fat pad
OMIM:615830	PRKACA	5566	HP:0003701	Proximal muscle weakness
OMIM:615830	PRKACA	5566	HP:0004324	Increased body weight
OMIM:615830	PRKACA	5566	HP:0001030	Fragile skin
OMIM:615830	PRKACA	5566	HP:0008221	Adrenal hyperplasia
OMIM:615830	PRKACA	5566	HP:0000006	Autosomal dominant inheritance
OMIM:615830	PRKACA	5566	HP:0000712	Emotional lability
OMIM:615830	PRKACA	5566	HP:0001061	Acne
OMIM:615830	PRKACA	5566	HP:0001579	Primary hypercorticolism
OMIM:615830	PRKACA	5566	HP:0000819	Diabetes mellitus
OMIM:615830	PRKACA	5566	HP:0000822	Hypertension
OMIM:615830	PRKACA	5566	HP:0000716	Depressivity
OMIM:615830	PRKACA	5566	HP:0000978	Bruising susceptibility
OMIM:615830	PRKACA	5566	HP:0000938	Osteopenia
OMIM:615830	PRKACA	5566	HP:0500011	Moon facies
OMIM:243060	AURKC	6795	HP:0000025	Functional abnormality of male internal genitalia
OMIM:243060	AURKC	6795	HP:0003251	Male infertility
OMIM:243060	AURKC	6795	HP:0000007	Autosomal recessive inheritance
OMIM:613227	CA8	767	HP:0001350	Slurred speech
OMIM:613227	CA8	767	HP:0003577	Congenital onset
OMIM:613227	CA8	767	HP:0001337	Tremor
OMIM:613227	CA8	767	HP:0001256	Intellectual disability, mild
OMIM:613227	CA8	767	HP:0000486	Strabismus
OMIM:613227	CA8	767	HP:0000007	Autosomal recessive inheritance
OMIM:613227	CA8	767	HP:0001260	Dysarthria
OMIM:613227	CA8	767	HP:0001251	Ataxia
OMIM:167400	SCN9A	6335	HP:0001649	Tachycardia
OMIM:167400	SCN9A	6335	HP:0200026	Ocular pain
OMIM:167400	SCN9A	6335	HP:0000632	Lacrimation abnormality
OMIM:167400	SCN9A	6335	HP:0200025	Mandibular pain
OMIM:167400	SCN9A	6335	HP:0001662	Bradycardia
OMIM:167400	SCN9A	6335	HP:0003623	Neonatal onset
OMIM:167400	SCN9A	6335	HP:0500005	Anal pain
OMIM:167400	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:167400	SCN9A	6335	HP:0007328	Impaired pain sensation
OMIM:617146	PIEZO2	63895	HP:0001762	Talipes equinovarus
OMIM:617146	PIEZO2	63895	HP:0002650	Scoliosis
OMIM:617146	PIEZO2	63895	HP:0003390	Sensory axonal neuropathy
OMIM:617146	PIEZO2	63895	HP:0001763	Pes planus
OMIM:617146	PIEZO2	63895	HP:0010871	Sensory ataxia
OMIM:617146	PIEZO2	63895	HP:0003676	Progressive
OMIM:617146	PIEZO2	63895	HP:0002540	Inability to walk
OMIM:617146	PIEZO2	63895	HP:0000219	Thin upper lip vermilion
OMIM:617146	PIEZO2	63895	HP:0002093	Respiratory insufficiency
OMIM:617146	PIEZO2	63895	HP:0001260	Dysarthria
OMIM:617146	PIEZO2	63895	HP:0001166	Arachnodactyly
OMIM:617146	PIEZO2	63895	HP:0001385	Hip dysplasia
OMIM:617146	PIEZO2	63895	HP:0000007	Autosomal recessive inheritance
OMIM:617146	PIEZO2	63895	HP:0002136	Broad-based gait
OMIM:617146	PIEZO2	63895	HP:0012385	Camptodactyly
OMIM:617146	PIEZO2	63895	HP:0004322	Short stature
OMIM:617146	PIEZO2	63895	HP:0002421	Poor head control
OMIM:617146	PIEZO2	63895	HP:0000218	High palate
OMIM:617146	PIEZO2	63895	HP:0002058	Myopathic facies
OMIM:617146	PIEZO2	63895	HP:0001290	Generalized hypotonia
OMIM:617146	PIEZO2	63895	HP:0000431	Wide nasal bridge
OMIM:617146	PIEZO2	63895	HP:0003189	Long nose
OMIM:617146	PIEZO2	63895	HP:0001284	Areflexia
OMIM:617146	PIEZO2	63895	HP:0001270	Motor delay
OMIM:602271	C21ORF2	755	HP:0100864	Short femoral neck
OMIM:602271	C21ORF2	755	HP:0000639	Nystagmus
OMIM:602271	C21ORF2	755	HP:0000007	Autosomal recessive inheritance
OMIM:602271	C21ORF2	755	HP:0002812	Coxa vara
OMIM:602271	C21ORF2	755	HP:0005257	Thoracic hypoplasia
OMIM:602271	C21ORF2	755	HP:0000648	Optic atrophy
OMIM:602271	C21ORF2	755	HP:0003375	Narrow greater sacrosciatic notches
OMIM:602271	C21ORF2	755	HP:0006532	Recurrent pneumonia
OMIM:602271	C21ORF2	755	HP:0000926	Platyspondyly
OMIM:602271	C21ORF2	755	HP:0003411	Proximal femoral metaphyseal irregularity
OMIM:602271	C21ORF2	755	HP:0002657	Spondylometaphyseal dysplasia
OMIM:602271	C21ORF2	755	HP:0004322	Short stature
OMIM:602271	C21ORF2	755	HP:0000510	Rod-cone dystrophy
OMIM:602271	C21ORF2	755	HP:0000907	Anterior rib cupping
OMIM:605013	NDE1	54820	HP:0001263	Global developmental delay
OMIM:605013	NDE1	54820	HP:0001321	Cerebellar hypoplasia
OMIM:605013	NDE1	54820	HP:0001347	Hyperreflexia
OMIM:605013	NDE1	54820	HP:0006887	Intellectual disability, progressive
OMIM:605013	NDE1	54820	HP:0002123	Generalized myoclonic seizures
OMIM:605013	NDE1	54820	HP:0002365	Hypoplasia of the brainstem
OMIM:605013	NDE1	54820	HP:0002305	Athetosis
OMIM:605013	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:605013	NDE1	54820	HP:0012736	Profound global developmental delay
OMIM:605013	NDE1	54820	HP:0002510	Spastic tetraplegia
OMIM:605013	NDE1	54820	HP:0000520	Proptosis
OMIM:605013	NDE1	54820	HP:0000742	Self-mutilation
OMIM:605013	NDE1	54820	HP:0001762	Talipes equinovarus
OMIM:605013	NDE1	54820	HP:0000340	Sloping forehead
OMIM:605013	NDE1	54820	HP:0000426	Prominent nasal bridge
OMIM:605013	NDE1	54820	HP:0010864	Intellectual disability, severe
OMIM:605013	NDE1	54820	HP:0000400	Macrotia
OMIM:605013	NDE1	54820	HP:0000252	Microcephaly
OMIM:605013	NDE1	54820	HP:0002828	Multiple joint contractures
OMIM:605013	NDE1	54820	HP:0004322	Short stature
OMIM:605013	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:605013	NDE1	54820	HP:0002119	Ventriculomegaly
OMIM:605013	NDE1	54820	HP:0002324	Hydranencephaly
OMIM:605013	NDE1	54820	HP:0003202	Skeletal muscle atrophy
OMIM:605013	NDE1	54820	HP:0001302	Pachygyria
OMIM:615688	ADA2	51816	HP:0000602	Ophthalmoplegia
OMIM:615688	ADA2	51816	HP:0002910	Elevated hepatic transaminases
OMIM:615688	ADA2	51816	HP:0009830	Peripheral neuropathy
OMIM:615688	ADA2	51816	HP:0002721	Immunodeficiency
OMIM:615688	ADA2	51816	HP:0002381	Aphasia
OMIM:615688	ADA2	51816	HP:0012219	Erythema nodosum
OMIM:615688	ADA2	51816	HP:0003828	Variable expressivity
OMIM:615688	ADA2	51816	HP:0030880	Raynaud phenomenon
OMIM:615688	ADA2	51816	HP:0002315	Headache
OMIM:615688	ADA2	51816	HP:0002617	Dilatation
OMIM:615688	ADA2	51816	HP:0003326	Myalgia
OMIM:615688	ADA2	51816	HP:0000713	Agitation
OMIM:615688	ADA2	51816	HP:0002240	Hepatomegaly
OMIM:615688	ADA2	51816	HP:0000979	Purpura
OMIM:615688	ADA2	51816	HP:0001744	Splenomegaly
OMIM:615688	ADA2	51816	HP:0001945	Fever
OMIM:615688	ADA2	51816	HP:0012490	Panniculitis
OMIM:615688	ADA2	51816	HP:0002301	Hemiplegia
OMIM:615688	ADA2	51816	HP:0000965	Cutis marmorata
OMIM:615688	ADA2	51816	HP:0001251	Ataxia
OMIM:615688	ADA2	51816	HP:0001369	Arthritis
OMIM:615688	ADA2	51816	HP:0000007	Autosomal recessive inheritance
OMIM:615688	ADA2	51816	HP:0002027	Abdominal pain
OMIM:613970	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:613970	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:613970	GRIN2B	2904	HP:0002353	EEG abnormality
OMIM:613970	GRIN2B	2904	HP:0000708	Behavioral abnormality
ORPHA:217335	RIN2	54453	HP:0000974	Hyperextensible skin
ORPHA:217335	RIN2	54453	HP:0000212	Gingival overgrowth
ORPHA:217335	RIN2	54453	HP:0001537	Umbilical hernia
ORPHA:217335	RIN2	54453	HP:0000218	High palate
ORPHA:217335	RIN2	54453	HP:0002650	Scoliosis
ORPHA:217335	RIN2	54453	HP:0001007	Hirsutism
ORPHA:217335	RIN2	54453	HP:0000280	Coarse facial features
ORPHA:217335	RIN2	54453	HP:0001382	Joint hypermobility
ORPHA:217335	RIN2	54453	HP:0011232	Infra-orbital fold
ORPHA:217335	RIN2	54453	HP:0040079	Irregular dentition
ORPHA:217335	RIN2	54453	HP:0002209	Sparse scalp hair
ORPHA:217335	RIN2	54453	HP:0000766	Abnormality of the sternum
ORPHA:217335	RIN2	54453	HP:0001620	High pitched voice
ORPHA:217335	RIN2	54453	HP:0001582	Redundant skin
ORPHA:217335	RIN2	54453	HP:0000978	Bruising susceptibility
ORPHA:217335	RIN2	54453	HP:0100543	Cognitive impairment
ORPHA:217335	RIN2	54453	HP:0000343	Long philtrum
ORPHA:217335	RIN2	54453	HP:0012724	Upper eyelid edema
ORPHA:217335	RIN2	54453	HP:0001763	Pes planus
ORPHA:217335	RIN2	54453	HP:0000494	Downslanted palpebral fissures
OMIM:140000	HOXA13	3209	HP:0009237	Short 5th finger
OMIM:140000	HOXA13	3209	HP:0008740	Longitudinal vaginal septum
OMIM:140000	HOXA13	3209	HP:0001216	Delayed ossification of carpal bones
OMIM:140000	HOXA13	3209	HP:0000048	Bifid scrotum
OMIM:140000	HOXA13	3209	HP:0010584	Pseudoepiphyses
OMIM:140000	HOXA13	3209	HP:0000047	Hypospadias
OMIM:140000	HOXA13	3209	HP:0000041	Chordee
OMIM:140000	HOXA13	3209	HP:0009464	Ulnar deviation of the 2nd finger
OMIM:140000	HOXA13	3209	HP:0010105	Short first metatarsal
OMIM:140000	HOXA13	3209	HP:0000076	Vesicoureteral reflux
OMIM:140000	HOXA13	3209	HP:0010034	Short 1st metacarpal
OMIM:140000	HOXA13	3209	HP:0001156	Brachydactyly
OMIM:140000	HOXA13	3209	HP:0000083	Renal insufficiency
OMIM:140000	HOXA13	3209	HP:0001245	Small thenar eminence
OMIM:140000	HOXA13	3209	HP:0008080	Hallux varus
OMIM:140000	HOXA13	3209	HP:0000006	Autosomal dominant inheritance
OMIM:140000	HOXA13	3209	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:140000	HOXA13	3209	HP:0004209	Clinodactyly of the 5th finger
OMIM:140000	HOXA13	3209	HP:0003762	Uterus didelphys
OMIM:140000	HOXA13	3209	HP:0000074	Ureteropelvic junction obstruction
OMIM:140000	HOXA13	3209	HP:0008103	Delayed tarsal ossification
OMIM:140000	HOXA13	3209	HP:0010109	Short hallux
OMIM:140000	HOXA13	3209	HP:0009623	Proximal placement of thumb
OMIM:140000	HOXA13	3209	HP:0000054	Micropenis
OMIM:140000	HOXA13	3209	HP:0001885	Short 2nd toe
OMIM:615524	RARB	5915	HP:0000347	Micrognathia
OMIM:615524	RARB	5915	HP:0000431	Wide nasal bridge
OMIM:615524	RARB	5915	HP:0000776	Congenital diaphragmatic hernia
OMIM:615524	RARB	5915	HP:0000813	Bicornuate uterus
OMIM:615524	RARB	5915	HP:0000528	Anophthalmia
OMIM:615524	RARB	5915	HP:0000568	Microphthalmia
OMIM:615524	RARB	5915	HP:0000007	Autosomal recessive inheritance
OMIM:615524	RARB	5915	HP:0000455	Broad nasal tip
OMIM:615524	RARB	5915	HP:0002089	Pulmonary hypoplasia
OMIM:615524	RARB	5915	HP:0000278	Retrognathia
OMIM:615524	RARB	5915	HP:0000006	Autosomal dominant inheritance
OMIM:616803	SOX5	6660	HP:0000545	Myopia
OMIM:616803	SOX5	6660	HP:0000006	Autosomal dominant inheritance
OMIM:616803	SOX5	6660	HP:0002007	Frontal bossing
OMIM:616803	SOX5	6660	HP:0005280	Depressed nasal bridge
OMIM:616803	SOX5	6660	HP:0000768	Pectus carinatum
OMIM:616803	SOX5	6660	HP:0001249	Intellectual disability
OMIM:616803	SOX5	6660	HP:0000494	Downslanted palpebral fissures
OMIM:616803	SOX5	6660	HP:0000194	Open mouth
OMIM:616803	SOX5	6660	HP:0001263	Global developmental delay
OMIM:616803	SOX5	6660	HP:0000369	Low-set ears
OMIM:616803	SOX5	6660	HP:0000750	Delayed speech and language development
OMIM:616803	SOX5	6660	HP:0001290	Generalized hypotonia
OMIM:616803	SOX5	6660	HP:0000486	Strabismus
OMIM:616803	SOX5	6660	HP:0002650	Scoliosis
OMIM:616803	SOX5	6660	HP:0030084	Clinodactyly
OMIM:616803	SOX5	6660	HP:0000648	Optic atrophy
OMIM:616803	SOX5	6660	HP:0000678	Dental crowding
OMIM:616803	SOX5	6660	HP:0000358	Posteriorly rotated ears
OMIM:616803	SOX5	6660	HP:0000739	Anxiety
OMIM:616803	SOX5	6660	HP:0003812	Phenotypic variability
OMIM:616803	SOX5	6660	HP:0000414	Bulbous nose
OMIM:616803	SOX5	6660	HP:0000431	Wide nasal bridge
OMIM:616803	SOX5	6660	HP:0000324	Facial asymmetry
OMIM:616803	SOX5	6660	HP:0000286	Epicanthus
ORPHA:1149	FKBP10	60681	HP:0001387	Joint stiffness
ORPHA:1149	FKBP10	60681	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1149	FKBP10	60681	HP:0001288	Gait disturbance
ORPHA:1149	FKBP10	60681	HP:0001883	Talipes
ORPHA:48818	CP	1356	HP:0001276	Hypertonia
ORPHA:48818	CP	1356	HP:0000750	Delayed speech and language development
ORPHA:48818	CP	1356	HP:0001337	Tremor
ORPHA:48818	CP	1356	HP:0000473	Torticollis
ORPHA:48818	CP	1356	HP:0000643	Blepharospasm
ORPHA:48818	CP	1356	HP:0000819	Diabetes mellitus
ORPHA:48818	CP	1356	HP:0012465	Elevated hepatic iron concentration
ORPHA:48818	CP	1356	HP:0010837	Decreased serum ceruloplasmin
ORPHA:48818	CP	1356	HP:0002072	Chorea
ORPHA:48818	CP	1356	HP:0000726	Dementia
ORPHA:48818	CP	1356	HP:0000716	Depressivity
ORPHA:48818	CP	1356	HP:0000546	Retinal degeneration
ORPHA:48818	CP	1356	HP:0001251	Ataxia
ORPHA:48818	CP	1356	HP:0003281	Increased serum ferritin
ORPHA:48818	CP	1356	HP:0001300	Parkinsonism
ORPHA:48818	CP	1356	HP:0005505	Refractory anemia
ORPHA:2512	PYCR2	29920	HP:0000340	Sloping forehead
ORPHA:2512	PYCR2	29920	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	PYCR2	29920	HP:0010864	Intellectual disability, severe
ORPHA:2512	PYCR2	29920	HP:0000076	Vesicoureteral reflux
ORPHA:2512	PYCR2	29920	HP:0001302	Pachygyria
ORPHA:2512	PYCR2	29920	HP:0002282	Heterotopia
ORPHA:2512	PYCR2	29920	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	PYCR2	29920	HP:0001263	Global developmental delay
ORPHA:2512	PYCR2	29920	HP:0001347	Hyperreflexia
ORPHA:2512	PYCR2	29920	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	PYCR2	29920	HP:0004322	Short stature
ORPHA:2512	PYCR2	29920	HP:0000122	Unilateral renal agenesis
ORPHA:2512	PYCR2	29920	HP:0000252	Microcephaly
ORPHA:2512	PYCR2	29920	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	PYCR2	29920	HP:0002119	Ventriculomegaly
ORPHA:2512	PYCR2	29920	HP:0000219	Thin upper lip vermilion
ORPHA:2512	ASPM	259266	HP:0000340	Sloping forehead
ORPHA:2512	ASPM	259266	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	ASPM	259266	HP:0010864	Intellectual disability, severe
ORPHA:2512	ASPM	259266	HP:0000076	Vesicoureteral reflux
ORPHA:2512	ASPM	259266	HP:0001302	Pachygyria
ORPHA:2512	ASPM	259266	HP:0002282	Heterotopia
ORPHA:2512	ASPM	259266	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	ASPM	259266	HP:0001263	Global developmental delay
ORPHA:2512	ASPM	259266	HP:0001347	Hyperreflexia
ORPHA:2512	ASPM	259266	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	ASPM	259266	HP:0004322	Short stature
ORPHA:2512	ASPM	259266	HP:0000122	Unilateral renal agenesis
ORPHA:2512	ASPM	259266	HP:0000252	Microcephaly
ORPHA:2512	ASPM	259266	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	ASPM	259266	HP:0002119	Ventriculomegaly
ORPHA:2512	ASPM	259266	HP:0000219	Thin upper lip vermilion
ORPHA:2512	MCPH1	79648	HP:0000340	Sloping forehead
ORPHA:2512	MCPH1	79648	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	MCPH1	79648	HP:0010864	Intellectual disability, severe
ORPHA:2512	MCPH1	79648	HP:0000076	Vesicoureteral reflux
ORPHA:2512	MCPH1	79648	HP:0001302	Pachygyria
ORPHA:2512	MCPH1	79648	HP:0002282	Heterotopia
ORPHA:2512	MCPH1	79648	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	MCPH1	79648	HP:0001263	Global developmental delay
ORPHA:2512	MCPH1	79648	HP:0001347	Hyperreflexia
ORPHA:2512	MCPH1	79648	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	MCPH1	79648	HP:0004322	Short stature
ORPHA:2512	MCPH1	79648	HP:0000122	Unilateral renal agenesis
ORPHA:2512	MCPH1	79648	HP:0000252	Microcephaly
ORPHA:2512	MCPH1	79648	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	MCPH1	79648	HP:0002119	Ventriculomegaly
ORPHA:2512	MCPH1	79648	HP:0000219	Thin upper lip vermilion
ORPHA:2512	TAF13	6884	HP:0000340	Sloping forehead
ORPHA:2512	TAF13	6884	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	TAF13	6884	HP:0010864	Intellectual disability, severe
ORPHA:2512	TAF13	6884	HP:0000076	Vesicoureteral reflux
ORPHA:2512	TAF13	6884	HP:0001302	Pachygyria
ORPHA:2512	TAF13	6884	HP:0002282	Heterotopia
ORPHA:2512	TAF13	6884	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	TAF13	6884	HP:0001263	Global developmental delay
ORPHA:2512	TAF13	6884	HP:0001347	Hyperreflexia
ORPHA:2512	TAF13	6884	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	TAF13	6884	HP:0004322	Short stature
ORPHA:2512	TAF13	6884	HP:0000122	Unilateral renal agenesis
ORPHA:2512	TAF13	6884	HP:0000252	Microcephaly
ORPHA:2512	TAF13	6884	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	TAF13	6884	HP:0002119	Ventriculomegaly
ORPHA:2512	TAF13	6884	HP:0000219	Thin upper lip vermilion
ORPHA:2512	ANKLE2	23141	HP:0000340	Sloping forehead
ORPHA:2512	ANKLE2	23141	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	ANKLE2	23141	HP:0010864	Intellectual disability, severe
ORPHA:2512	ANKLE2	23141	HP:0000076	Vesicoureteral reflux
ORPHA:2512	ANKLE2	23141	HP:0001302	Pachygyria
ORPHA:2512	ANKLE2	23141	HP:0002282	Heterotopia
ORPHA:2512	ANKLE2	23141	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	ANKLE2	23141	HP:0001263	Global developmental delay
ORPHA:2512	ANKLE2	23141	HP:0001347	Hyperreflexia
ORPHA:2512	ANKLE2	23141	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	ANKLE2	23141	HP:0004322	Short stature
ORPHA:2512	ANKLE2	23141	HP:0000122	Unilateral renal agenesis
ORPHA:2512	ANKLE2	23141	HP:0000252	Microcephaly
ORPHA:2512	ANKLE2	23141	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	ANKLE2	23141	HP:0002119	Ventriculomegaly
ORPHA:2512	ANKLE2	23141	HP:0000219	Thin upper lip vermilion
ORPHA:2512	SASS6	163786	HP:0000340	Sloping forehead
ORPHA:2512	SASS6	163786	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	SASS6	163786	HP:0010864	Intellectual disability, severe
ORPHA:2512	SASS6	163786	HP:0000076	Vesicoureteral reflux
ORPHA:2512	SASS6	163786	HP:0001302	Pachygyria
ORPHA:2512	SASS6	163786	HP:0002282	Heterotopia
ORPHA:2512	SASS6	163786	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	SASS6	163786	HP:0001263	Global developmental delay
ORPHA:2512	SASS6	163786	HP:0001347	Hyperreflexia
ORPHA:2512	SASS6	163786	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	SASS6	163786	HP:0004322	Short stature
ORPHA:2512	SASS6	163786	HP:0000122	Unilateral renal agenesis
ORPHA:2512	SASS6	163786	HP:0000252	Microcephaly
ORPHA:2512	SASS6	163786	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	SASS6	163786	HP:0002119	Ventriculomegaly
ORPHA:2512	SASS6	163786	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CIT	11113	HP:0000340	Sloping forehead
ORPHA:2512	CIT	11113	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CIT	11113	HP:0010864	Intellectual disability, severe
ORPHA:2512	CIT	11113	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CIT	11113	HP:0001302	Pachygyria
ORPHA:2512	CIT	11113	HP:0002282	Heterotopia
ORPHA:2512	CIT	11113	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CIT	11113	HP:0001263	Global developmental delay
ORPHA:2512	CIT	11113	HP:0001347	Hyperreflexia
ORPHA:2512	CIT	11113	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CIT	11113	HP:0004322	Short stature
ORPHA:2512	CIT	11113	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CIT	11113	HP:0000252	Microcephaly
ORPHA:2512	CIT	11113	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CIT	11113	HP:0002119	Ventriculomegaly
ORPHA:2512	CIT	11113	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CDK5RAP2	55755	HP:0000340	Sloping forehead
ORPHA:2512	CDK5RAP2	55755	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CDK5RAP2	55755	HP:0010864	Intellectual disability, severe
ORPHA:2512	CDK5RAP2	55755	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CDK5RAP2	55755	HP:0001302	Pachygyria
ORPHA:2512	CDK5RAP2	55755	HP:0002282	Heterotopia
ORPHA:2512	CDK5RAP2	55755	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CDK5RAP2	55755	HP:0001263	Global developmental delay
ORPHA:2512	CDK5RAP2	55755	HP:0001347	Hyperreflexia
ORPHA:2512	CDK5RAP2	55755	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CDK5RAP2	55755	HP:0004322	Short stature
ORPHA:2512	CDK5RAP2	55755	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CDK5RAP2	55755	HP:0000252	Microcephaly
ORPHA:2512	CDK5RAP2	55755	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CDK5RAP2	55755	HP:0002119	Ventriculomegaly
ORPHA:2512	CDK5RAP2	55755	HP:0000219	Thin upper lip vermilion
ORPHA:2512	MFSD2A	84879	HP:0000340	Sloping forehead
ORPHA:2512	MFSD2A	84879	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	MFSD2A	84879	HP:0010864	Intellectual disability, severe
ORPHA:2512	MFSD2A	84879	HP:0000076	Vesicoureteral reflux
ORPHA:2512	MFSD2A	84879	HP:0001302	Pachygyria
ORPHA:2512	MFSD2A	84879	HP:0002282	Heterotopia
ORPHA:2512	MFSD2A	84879	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	MFSD2A	84879	HP:0001263	Global developmental delay
ORPHA:2512	MFSD2A	84879	HP:0001347	Hyperreflexia
ORPHA:2512	MFSD2A	84879	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	MFSD2A	84879	HP:0004322	Short stature
ORPHA:2512	MFSD2A	84879	HP:0000122	Unilateral renal agenesis
ORPHA:2512	MFSD2A	84879	HP:0000252	Microcephaly
ORPHA:2512	MFSD2A	84879	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	MFSD2A	84879	HP:0002119	Ventriculomegaly
ORPHA:2512	MFSD2A	84879	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CEP152	22995	HP:0000340	Sloping forehead
ORPHA:2512	CEP152	22995	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CEP152	22995	HP:0010864	Intellectual disability, severe
ORPHA:2512	CEP152	22995	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CEP152	22995	HP:0001302	Pachygyria
ORPHA:2512	CEP152	22995	HP:0002282	Heterotopia
ORPHA:2512	CEP152	22995	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CEP152	22995	HP:0001263	Global developmental delay
ORPHA:2512	CEP152	22995	HP:0001347	Hyperreflexia
ORPHA:2512	CEP152	22995	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CEP152	22995	HP:0004322	Short stature
ORPHA:2512	CEP152	22995	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CEP152	22995	HP:0000252	Microcephaly
ORPHA:2512	CEP152	22995	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CEP152	22995	HP:0002119	Ventriculomegaly
ORPHA:2512	CEP152	22995	HP:0000219	Thin upper lip vermilion
ORPHA:2512	WDR62	284403	HP:0000340	Sloping forehead
ORPHA:2512	WDR62	284403	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	WDR62	284403	HP:0010864	Intellectual disability, severe
ORPHA:2512	WDR62	284403	HP:0000076	Vesicoureteral reflux
ORPHA:2512	WDR62	284403	HP:0001302	Pachygyria
ORPHA:2512	WDR62	284403	HP:0002282	Heterotopia
ORPHA:2512	WDR62	284403	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	WDR62	284403	HP:0001263	Global developmental delay
ORPHA:2512	WDR62	284403	HP:0001347	Hyperreflexia
ORPHA:2512	WDR62	284403	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	WDR62	284403	HP:0004322	Short stature
ORPHA:2512	WDR62	284403	HP:0000122	Unilateral renal agenesis
ORPHA:2512	WDR62	284403	HP:0000252	Microcephaly
ORPHA:2512	WDR62	284403	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	WDR62	284403	HP:0002119	Ventriculomegaly
ORPHA:2512	WDR62	284403	HP:0000219	Thin upper lip vermilion
ORPHA:2512	PHC1	1911	HP:0000340	Sloping forehead
ORPHA:2512	PHC1	1911	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	PHC1	1911	HP:0010864	Intellectual disability, severe
ORPHA:2512	PHC1	1911	HP:0000076	Vesicoureteral reflux
ORPHA:2512	PHC1	1911	HP:0001302	Pachygyria
ORPHA:2512	PHC1	1911	HP:0002282	Heterotopia
ORPHA:2512	PHC1	1911	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	PHC1	1911	HP:0001263	Global developmental delay
ORPHA:2512	PHC1	1911	HP:0001347	Hyperreflexia
ORPHA:2512	PHC1	1911	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	PHC1	1911	HP:0004322	Short stature
ORPHA:2512	PHC1	1911	HP:0000122	Unilateral renal agenesis
ORPHA:2512	PHC1	1911	HP:0000252	Microcephaly
ORPHA:2512	PHC1	1911	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	PHC1	1911	HP:0002119	Ventriculomegaly
ORPHA:2512	PHC1	1911	HP:0000219	Thin upper lip vermilion
ORPHA:2512	KNL1	57082	HP:0000340	Sloping forehead
ORPHA:2512	KNL1	57082	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	KNL1	57082	HP:0010864	Intellectual disability, severe
ORPHA:2512	KNL1	57082	HP:0000076	Vesicoureteral reflux
ORPHA:2512	KNL1	57082	HP:0001302	Pachygyria
ORPHA:2512	KNL1	57082	HP:0002282	Heterotopia
ORPHA:2512	KNL1	57082	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	KNL1	57082	HP:0001263	Global developmental delay
ORPHA:2512	KNL1	57082	HP:0001347	Hyperreflexia
ORPHA:2512	KNL1	57082	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	KNL1	57082	HP:0004322	Short stature
ORPHA:2512	KNL1	57082	HP:0000122	Unilateral renal agenesis
ORPHA:2512	KNL1	57082	HP:0000252	Microcephaly
ORPHA:2512	KNL1	57082	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	KNL1	57082	HP:0002119	Ventriculomegaly
ORPHA:2512	KNL1	57082	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CENPJ	55835	HP:0000340	Sloping forehead
ORPHA:2512	CENPJ	55835	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CENPJ	55835	HP:0010864	Intellectual disability, severe
ORPHA:2512	CENPJ	55835	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CENPJ	55835	HP:0001302	Pachygyria
ORPHA:2512	CENPJ	55835	HP:0002282	Heterotopia
ORPHA:2512	CENPJ	55835	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CENPJ	55835	HP:0001263	Global developmental delay
ORPHA:2512	CENPJ	55835	HP:0001347	Hyperreflexia
ORPHA:2512	CENPJ	55835	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CENPJ	55835	HP:0004322	Short stature
ORPHA:2512	CENPJ	55835	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CENPJ	55835	HP:0000252	Microcephaly
ORPHA:2512	CENPJ	55835	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CENPJ	55835	HP:0002119	Ventriculomegaly
ORPHA:2512	CENPJ	55835	HP:0000219	Thin upper lip vermilion
ORPHA:2512	STIL	6491	HP:0000340	Sloping forehead
ORPHA:2512	STIL	6491	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	STIL	6491	HP:0010864	Intellectual disability, severe
ORPHA:2512	STIL	6491	HP:0000076	Vesicoureteral reflux
ORPHA:2512	STIL	6491	HP:0001302	Pachygyria
ORPHA:2512	STIL	6491	HP:0002282	Heterotopia
ORPHA:2512	STIL	6491	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	STIL	6491	HP:0001263	Global developmental delay
ORPHA:2512	STIL	6491	HP:0001347	Hyperreflexia
ORPHA:2512	STIL	6491	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	STIL	6491	HP:0004322	Short stature
ORPHA:2512	STIL	6491	HP:0000122	Unilateral renal agenesis
ORPHA:2512	STIL	6491	HP:0000252	Microcephaly
ORPHA:2512	STIL	6491	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	STIL	6491	HP:0002119	Ventriculomegaly
ORPHA:2512	STIL	6491	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CDK6	1021	HP:0000340	Sloping forehead
ORPHA:2512	CDK6	1021	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CDK6	1021	HP:0010864	Intellectual disability, severe
ORPHA:2512	CDK6	1021	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CDK6	1021	HP:0001302	Pachygyria
ORPHA:2512	CDK6	1021	HP:0002282	Heterotopia
ORPHA:2512	CDK6	1021	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CDK6	1021	HP:0001263	Global developmental delay
ORPHA:2512	CDK6	1021	HP:0001347	Hyperreflexia
ORPHA:2512	CDK6	1021	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CDK6	1021	HP:0004322	Short stature
ORPHA:2512	CDK6	1021	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CDK6	1021	HP:0000252	Microcephaly
ORPHA:2512	CDK6	1021	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CDK6	1021	HP:0002119	Ventriculomegaly
ORPHA:2512	CDK6	1021	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CEP135	9662	HP:0000340	Sloping forehead
ORPHA:2512	CEP135	9662	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CEP135	9662	HP:0010864	Intellectual disability, severe
ORPHA:2512	CEP135	9662	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CEP135	9662	HP:0001302	Pachygyria
ORPHA:2512	CEP135	9662	HP:0002282	Heterotopia
ORPHA:2512	CEP135	9662	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CEP135	9662	HP:0001263	Global developmental delay
ORPHA:2512	CEP135	9662	HP:0001347	Hyperreflexia
ORPHA:2512	CEP135	9662	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CEP135	9662	HP:0004322	Short stature
ORPHA:2512	CEP135	9662	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CEP135	9662	HP:0000252	Microcephaly
ORPHA:2512	CEP135	9662	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CEP135	9662	HP:0002119	Ventriculomegaly
ORPHA:2512	CEP135	9662	HP:0000219	Thin upper lip vermilion
ORPHA:2512	CEP63	80254	HP:0000340	Sloping forehead
ORPHA:2512	CEP63	80254	HP:0007333	Hypoplasia of the frontal lobes
ORPHA:2512	CEP63	80254	HP:0010864	Intellectual disability, severe
ORPHA:2512	CEP63	80254	HP:0000076	Vesicoureteral reflux
ORPHA:2512	CEP63	80254	HP:0001302	Pachygyria
ORPHA:2512	CEP63	80254	HP:0002282	Heterotopia
ORPHA:2512	CEP63	80254	HP:0001274	Agenesis of corpus callosum
ORPHA:2512	CEP63	80254	HP:0001263	Global developmental delay
ORPHA:2512	CEP63	80254	HP:0001347	Hyperreflexia
ORPHA:2512	CEP63	80254	HP:0003103	Abnormal cortical bone morphology
ORPHA:2512	CEP63	80254	HP:0004322	Short stature
ORPHA:2512	CEP63	80254	HP:0000122	Unilateral renal agenesis
ORPHA:2512	CEP63	80254	HP:0000252	Microcephaly
ORPHA:2512	CEP63	80254	HP:0000582	Upslanted palpebral fissure
ORPHA:2512	CEP63	80254	HP:0002119	Ventriculomegaly
ORPHA:2512	CEP63	80254	HP:0000219	Thin upper lip vermilion
OMIM:616355	PPP2R5D	5528	HP:0002119	Ventriculomegaly
OMIM:616355	PPP2R5D	5528	HP:0005988	Congenital muscular torticollis
OMIM:616355	PPP2R5D	5528	HP:0000256	Macrocephaly
OMIM:616355	PPP2R5D	5528	HP:0000341	Narrow forehead
OMIM:616355	PPP2R5D	5528	HP:0000490	Deeply set eye
OMIM:616355	PPP2R5D	5528	HP:0000494	Downslanted palpebral fissures
OMIM:616355	PPP2R5D	5528	HP:0001290	Generalized hypotonia
OMIM:616355	PPP2R5D	5528	HP:0000238	Hydrocephalus
OMIM:616355	PPP2R5D	5528	HP:0001374	Congenital hip dislocation
OMIM:616355	PPP2R5D	5528	HP:0000316	Hypertelorism
OMIM:616355	PPP2R5D	5528	HP:0001943	Hypoglycemia
OMIM:616355	PPP2R5D	5528	HP:0000194	Open mouth
OMIM:616355	PPP2R5D	5528	HP:0000006	Autosomal dominant inheritance
OMIM:616355	PPP2R5D	5528	HP:0000545	Myopia
OMIM:616355	PPP2R5D	5528	HP:0002021	Pyloric stenosis
OMIM:616355	PPP2R5D	5528	HP:0000297	Facial hypotonia
OMIM:616355	PPP2R5D	5528	HP:0002028	Chronic diarrhea
OMIM:616355	PPP2R5D	5528	HP:0001249	Intellectual disability
OMIM:616355	PPP2R5D	5528	HP:0001250	Seizures
OMIM:616355	PPP2R5D	5528	HP:0001263	Global developmental delay
OMIM:616355	PPP2R5D	5528	HP:0000486	Strabismus
OMIM:616100	CTLA4	1493	HP:0001973	Autoimmune thrombocytopenia
OMIM:616100	CTLA4	1493	HP:0000006	Autosomal dominant inheritance
OMIM:616100	CTLA4	1493	HP:0002716	Lymphadenopathy
OMIM:616100	CTLA4	1493	HP:0001890	Autoimmune hemolytic anemia
OMIM:616100	CTLA4	1493	HP:0004313	Decreased antibody level in blood
OMIM:616100	CTLA4	1493	HP:0001744	Splenomegaly
OMIM:616100	CTLA4	1493	HP:0002014	Diarrhea
OMIM:616100	CTLA4	1493	HP:0002240	Hepatomegaly
OMIM:616100	CTLA4	1493	HP:0003829	Incomplete penetrance
OMIM:602089	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:602089	FLT4	2324	HP:0005306	Capillary hemangiomas
OMIM:602089	KDR	3791	HP:0000006	Autosomal dominant inheritance
OMIM:602089	KDR	3791	HP:0005306	Capillary hemangiomas
OMIM:613811	SEPSECS	51091	HP:0001272	Cerebellar atrophy
OMIM:613811	SEPSECS	51091	HP:0002518	Abnormality of the periventricular white matter
OMIM:613811	SEPSECS	51091	HP:0002360	Sleep disturbance
OMIM:613811	SEPSECS	51091	HP:0002059	Cerebral atrophy
OMIM:613811	SEPSECS	51091	HP:0002072	Chorea
OMIM:613811	SEPSECS	51091	HP:0003593	Infantile onset
OMIM:613811	SEPSECS	51091	HP:0000007	Autosomal recessive inheritance
OMIM:613811	SEPSECS	51091	HP:0000253	Progressive microcephaly
OMIM:613811	SEPSECS	51091	HP:0002510	Spastic tetraplegia
OMIM:613811	SEPSECS	51091	HP:0000737	Irritability
OMIM:613811	SEPSECS	51091	HP:0012448	Delayed myelination
OMIM:613811	SEPSECS	51091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613811	SEPSECS	51091	HP:0001263	Global developmental delay
OMIM:613811	SEPSECS	51091	HP:0003121	Limb joint contracture
OMIM:613811	SEPSECS	51091	HP:0002187	Intellectual disability, profound
OMIM:613811	SEPSECS	51091	HP:0001250	Seizures
OMIM:613811	SEPSECS	51091	HP:0002169	Clonus
OMIM:615473	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:615473	GNAO1	2775	HP:0001344	Absent speech
OMIM:615473	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:615473	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:615473	GNAO1	2775	HP:0010818	Generalized tonic seizures
OMIM:615473	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:615473	GNAO1	2775	HP:0012448	Delayed myelination
OMIM:615473	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:613404	VIPAS39	63894	HP:0000369	Low-set ears
OMIM:613404	VIPAS39	63894	HP:0200084	Giant cell hepatitis
OMIM:613404	VIPAS39	63894	HP:0000007	Autosomal recessive inheritance
OMIM:613404	VIPAS39	63894	HP:0000121	Nephrocalcinosis
OMIM:613404	VIPAS39	63894	HP:0002908	Conjugated hyperbilirubinemia
OMIM:613404	VIPAS39	63894	HP:0000112	Nephropathy
OMIM:613404	VIPAS39	63894	HP:0000340	Sloping forehead
OMIM:613404	VIPAS39	63894	HP:0001942	Metabolic acidosis
OMIM:613404	VIPAS39	63894	HP:0008064	Ichthyosis
OMIM:613404	VIPAS39	63894	HP:0002804	Arthrogryposis multiplex congenita
OMIM:613404	VIPAS39	63894	HP:0001667	Right ventricular hypertrophy
OMIM:613404	VIPAS39	63894	HP:0001263	Global developmental delay
OMIM:613404	VIPAS39	63894	HP:0000952	Jaundice
OMIM:613404	VIPAS39	63894	HP:0001290	Generalized hypotonia
OMIM:613404	VIPAS39	63894	HP:0001385	Hip dysplasia
OMIM:613404	VIPAS39	63894	HP:0001884	Talipes calcaneovalgus
OMIM:613404	VIPAS39	63894	HP:0002611	Cholestatic liver disease
OMIM:613404	VIPAS39	63894	HP:0000252	Microcephaly
OMIM:613404	VIPAS39	63894	HP:0002910	Elevated hepatic transaminases
OMIM:613404	VIPAS39	63894	HP:0001947	Renal tubular acidosis
OMIM:613404	VIPAS39	63894	HP:0001508	Failure to thrive
OMIM:613404	VIPAS39	63894	HP:0001629	Ventricular septal defect
OMIM:614205	CCDC8	83987	HP:0000268	Dolichocephaly
OMIM:614205	CCDC8	83987	HP:0004322	Short stature
OMIM:614205	CCDC8	83987	HP:0001518	Small for gestational age
OMIM:614205	CCDC8	83987	HP:0004570	Increased vertebral height
OMIM:614205	CCDC8	83987	HP:0000325	Triangular face
OMIM:614205	CCDC8	83987	HP:0011800	Midface retrusion
OMIM:614205	CCDC8	83987	HP:0000007	Autosomal recessive inheritance
OMIM:614205	CCDC8	83987	HP:0000470	Short neck
OMIM:614205	CCDC8	83987	HP:0003100	Slender long bone
OMIM:614205	CCDC8	83987	HP:0001385	Hip dysplasia
OMIM:614205	CCDC8	83987	HP:0000411	Protruding ear
OMIM:614205	CCDC8	83987	HP:0002007	Frontal bossing
OMIM:614205	CCDC8	83987	HP:0010306	Short thorax
OMIM:614205	CCDC8	83987	HP:0000307	Pointed chin
OMIM:614205	CCDC8	83987	HP:0003307	Hyperlordosis
OMIM:614205	CCDC8	83987	HP:0000272	Malar flattening
OMIM:614205	CCDC8	83987	HP:0000463	Anteverted nares
OMIM:142330	HNF1A	6927	HP:0000147	Polycystic ovaries
OMIM:142330	HNF1A	6927	HP:0004904	Maturity-onset diabetes of the young
OMIM:142330	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:142330	HNF1A	6927	HP:0012028	Hepatocellular adenoma
OMIM:123100	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:123100	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:123100	TWIST1	7291	HP:0000268	Dolichocephaly
OMIM:123100	TWIST1	7291	HP:0030799	Scaphocephaly
OMIM:123100	TWIST1	7291	HP:0000262	Turricephaly
OMIM:123100	TWIST1	7291	HP:0000263	Oxycephaly
OMIM:614892	STAT1	6772	HP:0003829	Incomplete penetrance
OMIM:614892	STAT1	6772	HP:0002721	Immunodeficiency
OMIM:614892	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:146300	ALPL	249	HP:0002749	Osteomalacia
OMIM:146300	ALPL	249	HP:0000670	Carious teeth
OMIM:146300	ALPL	249	HP:0002748	Rickets
OMIM:146300	ALPL	249	HP:0001760	Abnormality of the foot
OMIM:146300	ALPL	249	HP:0003282	Low alkaline phosphatase
OMIM:146300	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:146300	ALPL	249	HP:0000934	Chondrocalcinosis
OMIM:146300	ALPL	249	HP:0002756	Pathologic fracture
OMIM:146300	ALPL	249	HP:0002757	Recurrent fractures
OMIM:146300	ALPL	249	HP:0006357	Premature loss of permanent teeth
OMIM:146300	ALPL	249	HP:0000006	Autosomal dominant inheritance
OMIM:146300	ALPL	249	HP:0006323	Premature loss of primary teeth
OMIM:143095	CHST3	9469	HP:0001156	Brachydactyly
OMIM:143095	CHST3	9469	HP:0010446	Tricuspid stenosis
OMIM:143095	CHST3	9469	HP:0000343	Long philtrum
OMIM:143095	CHST3	9469	HP:0001718	Mitral stenosis
OMIM:143095	CHST3	9469	HP:0003022	Hypoplasia of the ulna
OMIM:143095	CHST3	9469	HP:0001762	Talipes equinovarus
OMIM:143095	CHST3	9469	HP:0007598	Bilateral single transverse palmar creases
OMIM:143095	CHST3	9469	HP:0003834	Shoulder dislocation
OMIM:143095	CHST3	9469	HP:0000691	Microdontia
OMIM:143095	CHST3	9469	HP:0001659	Aortic regurgitation
OMIM:143095	CHST3	9469	HP:0009179	Deviation of the 5th finger
OMIM:143095	CHST3	9469	HP:0002982	Tibial bowing
OMIM:143095	CHST3	9469	HP:0000316	Hypertelorism
OMIM:143095	CHST3	9469	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:143095	CHST3	9469	HP:0002967	Cubitus valgus
OMIM:143095	CHST3	9469	HP:0003031	Ulnar bowing
OMIM:143095	CHST3	9469	HP:0009803	Short phalanx of finger
OMIM:143095	CHST3	9469	HP:0002092	Pulmonary arterial hypertension
OMIM:143095	CHST3	9469	HP:0003040	Arthropathy
OMIM:143095	CHST3	9469	HP:0000006	Autosomal dominant inheritance
OMIM:143095	CHST3	9469	HP:0003042	Elbow dislocation
OMIM:143095	CHST3	9469	HP:0001629	Ventricular septal defect
OMIM:143095	CHST3	9469	HP:0001650	Aortic valve stenosis
OMIM:143095	CHST3	9469	HP:0000687	Widely spaced teeth
OMIM:143095	CHST3	9469	HP:0002938	Lumbar hyperlordosis
OMIM:143095	CHST3	9469	HP:0003301	Irregular vertebral endplates
OMIM:143095	CHST3	9469	HP:0008551	Microtia
OMIM:143095	CHST3	9469	HP:0006471	Fixed elbow flexion
OMIM:143095	CHST3	9469	HP:0003184	Decreased hip abduction
OMIM:143095	CHST3	9469	HP:0008450	Narrow vertebral interpedicular distance
OMIM:143095	CHST3	9469	HP:0003071	Flattened epiphysis
OMIM:143095	CHST3	9469	HP:0001642	Pulmonic stenosis
OMIM:143095	CHST3	9469	HP:0002829	Arthralgia
OMIM:143095	CHST3	9469	HP:0010049	Short metacarpal
OMIM:143095	CHST3	9469	HP:0000218	High palate
OMIM:143095	CHST3	9469	HP:0000337	Broad forehead
OMIM:143095	CHST3	9469	HP:0000365	Hearing impairment
OMIM:143095	CHST3	9469	HP:0001714	Ventricular hypertrophy
OMIM:143095	CHST3	9469	HP:0001763	Pes planus
OMIM:143095	CHST3	9469	HP:0002515	Waddling gait
OMIM:143095	CHST3	9469	HP:0002857	Genu valgum
OMIM:143095	CHST3	9469	HP:0006067	Multiple carpal ossification centers
OMIM:143095	CHST3	9469	HP:0000470	Short neck
OMIM:143095	CHST3	9469	HP:0003417	Coronal cleft vertebrae
OMIM:143095	CHST3	9469	HP:0008905	Rhizomelia
OMIM:143095	CHST3	9469	HP:0010585	Small epiphyses
OMIM:143095	CHST3	9469	HP:0000684	Delayed eruption of teeth
OMIM:143095	CHST3	9469	HP:0001653	Mitral regurgitation
OMIM:143095	CHST3	9469	HP:0004976	Knee dislocation
OMIM:143095	CHST3	9469	HP:0000914	Shield chest
OMIM:143095	CHST3	9469	HP:0006462	Generalized bone demineralization
OMIM:143095	CHST3	9469	HP:0100864	Short femoral neck
OMIM:143095	CHST3	9469	HP:0002553	Highly arched eyebrow
OMIM:143095	CHST3	9469	HP:0100490	Camptodactyly of finger
OMIM:143095	CHST3	9469	HP:0002194	Delayed gross motor development
OMIM:143095	CHST3	9469	HP:0003093	Limited hip extension
OMIM:143095	CHST3	9469	HP:0002945	Intervertebral space narrowing
OMIM:143095	CHST3	9469	HP:0006610	Wide intermamillary distance
OMIM:143095	CHST3	9469	HP:0005180	Tricuspid regurgitation
OMIM:143095	CHST3	9469	HP:0000535	Sparse and thin eyebrow
OMIM:143095	CHST3	9469	HP:0000007	Autosomal recessive inheritance
OMIM:143095	CHST3	9469	HP:0002750	Delayed skeletal maturation
OMIM:143095	CHST3	9469	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:143095	CHST3	9469	HP:0009882	Short distal phalanx of finger
OMIM:143095	CHST3	9469	HP:0001552	Barrel-shaped chest
OMIM:143095	CHST3	9469	HP:0002751	Kyphoscoliosis
OMIM:614485	FREM1	158326	HP:0000006	Autosomal dominant inheritance
OMIM:614485	FREM1	158326	HP:0011330	Metopic synostosis
OMIM:614485	FREM1	158326	HP:0000243	Trigonocephaly
OMIM:129400	TP63	8626	HP:0000348	High forehead
OMIM:129400	TP63	8626	HP:0000966	Hypohidrosis
OMIM:129400	TP63	8626	HP:0000059	Hypoplastic labia majora
OMIM:129400	TP63	8626	HP:0000160	Narrow mouth
OMIM:129400	TP63	8626	HP:0000403	Recurrent otitis media
OMIM:129400	TP63	8626	HP:0000691	Microdontia
OMIM:129400	TP63	8626	HP:0008070	Sparse hair
OMIM:129400	TP63	8626	HP:0007476	Anhidrotic ectodermal dysplasia
OMIM:129400	TP63	8626	HP:0000204	Cleft upper lip
OMIM:129400	TP63	8626	HP:0000365	Hearing impairment
OMIM:129400	TP63	8626	HP:0000508	Ptosis
OMIM:129400	TP63	8626	HP:0000220	Velopharyngeal insufficiency
OMIM:129400	TP63	8626	HP:0000193	Bifid uvula
OMIM:129400	TP63	8626	HP:0001792	Small nail
OMIM:129400	TP63	8626	HP:0000175	Cleft palate
OMIM:129400	TP63	8626	HP:0007500	Decreased number of sweat glands
OMIM:129400	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:129400	TP63	8626	HP:0001805	Thick nail
OMIM:129400	TP63	8626	HP:0004322	Short stature
OMIM:129400	TP63	8626	HP:0000430	Underdeveloped nasal alae
OMIM:129400	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:129400	TP63	8626	HP:0002287	Progressive alopecia
OMIM:129400	TP63	8626	HP:0000698	Conical tooth
OMIM:129400	TP63	8626	HP:0000047	Hypospadias
OMIM:129400	TP63	8626	HP:0000963	Thin skin
OMIM:129400	TP63	8626	HP:0000460	Narrow nose
OMIM:129400	TP63	8626	HP:0001092	Absent lacrimal punctum
OMIM:129400	TP63	8626	HP:0001159	Syndactyly
OMIM:129400	TP63	8626	HP:0005280	Depressed nasal bridge
OMIM:129400	TP63	8626	HP:0200141	Small, conical teeth
OMIM:129400	TP63	8626	HP:0002213	Fine hair
OMIM:129400	TP63	8626	HP:0000668	Hypodontia
OMIM:129400	TP63	8626	HP:0002235	Pili canaliculi
OMIM:614078	IMPAD1	54928	HP:0000431	Wide nasal bridge
OMIM:614078	IMPAD1	54928	HP:0002999	Patellar dislocation
OMIM:614078	IMPAD1	54928	HP:0002857	Genu valgum
OMIM:614078	IMPAD1	54928	HP:0000520	Proptosis
OMIM:614078	IMPAD1	54928	HP:0000007	Autosomal recessive inheritance
OMIM:614078	IMPAD1	54928	HP:0003196	Short nose
OMIM:614078	IMPAD1	54928	HP:0012368	Flat face
OMIM:614078	IMPAD1	54928	HP:0000347	Micrognathia
OMIM:614078	IMPAD1	54928	HP:0010049	Short metacarpal
OMIM:614078	IMPAD1	54928	HP:0004322	Short stature
OMIM:614078	IMPAD1	54928	HP:0001773	Short foot
OMIM:614078	IMPAD1	54928	HP:0000365	Hearing impairment
OMIM:614078	IMPAD1	54928	HP:0000160	Narrow mouth
OMIM:614078	IMPAD1	54928	HP:0000348	High forehead
OMIM:614078	IMPAD1	54928	HP:0001831	Short toe
OMIM:614078	IMPAD1	54928	HP:0001156	Brachydactyly
OMIM:614078	IMPAD1	54928	HP:0004440	Coronal craniosynostosis
OMIM:605594	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:605594	DSPP	1834	HP:0000703	Dentinogenesis imperfecta
OMIM:605594	DSPP	1834	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:605594	DSPP	1834	HP:0000360	Tinnitus
OMIM:605594	DSPP	1834	HP:0005101	High-frequency hearing impairment
OMIM:615979	FBXO31	79791	HP:0000280	Coarse facial features
OMIM:615979	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:615979	FBXO31	79791	HP:0000574	Thick eyebrow
OMIM:615979	FBXO31	79791	HP:0000490	Deeply set eye
OMIM:615979	FBXO31	79791	HP:0000431	Wide nasal bridge
OMIM:615979	FBXO31	79791	HP:0000336	Prominent supraorbital ridges
OMIM:615979	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:607694	POLR3B	55703	HP:0000007	Autosomal recessive inheritance
OMIM:607694	POLR3B	55703	HP:0002120	Cerebral cortical atrophy
OMIM:607694	POLR3B	55703	HP:0003812	Phenotypic variability
OMIM:607694	POLR3B	55703	HP:0003487	Babinski sign
OMIM:607694	POLR3B	55703	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607694	POLR3B	55703	HP:0002127	Abnormal upper motor neuron morphology
OMIM:607694	POLR3B	55703	HP:0001347	Hyperreflexia
OMIM:607694	POLR3B	55703	HP:0001260	Dysarthria
OMIM:607694	POLR3B	55703	HP:0003676	Progressive
OMIM:607694	POLR3B	55703	HP:0002307	Drooling
OMIM:607694	POLR3B	55703	HP:0001310	Dysmetria
OMIM:607694	POLR3B	55703	HP:0001332	Dystonia
OMIM:607694	POLR3B	55703	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607694	POLR3B	55703	HP:0003429	CNS hypomyelination
OMIM:607694	POLR3B	55703	HP:0004322	Short stature
OMIM:607694	POLR3B	55703	HP:0001257	Spasticity
OMIM:607694	POLR3B	55703	HP:0000677	Oligodontia
OMIM:607694	POLR3B	55703	HP:0001263	Global developmental delay
OMIM:607694	POLR3B	55703	HP:0001272	Cerebellar atrophy
OMIM:607694	POLR3B	55703	HP:0002015	Dysphagia
OMIM:607694	POLR3B	55703	HP:0002174	Postural tremor
OMIM:607694	POLR3B	55703	HP:0000823	Delayed puberty
OMIM:607694	POLR3B	55703	HP:0000545	Myopia
OMIM:607694	POLR3B	55703	HP:0000668	Hypodontia
OMIM:607694	POLR3B	55703	HP:0002415	Leukodystrophy
OMIM:607694	POLR3A	11128	HP:0000007	Autosomal recessive inheritance
OMIM:607694	POLR3A	11128	HP:0002120	Cerebral cortical atrophy
OMIM:607694	POLR3A	11128	HP:0003812	Phenotypic variability
OMIM:607694	POLR3A	11128	HP:0003487	Babinski sign
OMIM:607694	POLR3A	11128	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607694	POLR3A	11128	HP:0002127	Abnormal upper motor neuron morphology
OMIM:607694	POLR3A	11128	HP:0001347	Hyperreflexia
OMIM:607694	POLR3A	11128	HP:0001260	Dysarthria
OMIM:607694	POLR3A	11128	HP:0003676	Progressive
OMIM:607694	POLR3A	11128	HP:0002307	Drooling
OMIM:607694	POLR3A	11128	HP:0001310	Dysmetria
OMIM:607694	POLR3A	11128	HP:0001332	Dystonia
OMIM:607694	POLR3A	11128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607694	POLR3A	11128	HP:0003429	CNS hypomyelination
OMIM:607694	POLR3A	11128	HP:0004322	Short stature
OMIM:607694	POLR3A	11128	HP:0001257	Spasticity
OMIM:607694	POLR3A	11128	HP:0000677	Oligodontia
OMIM:607694	POLR3A	11128	HP:0001263	Global developmental delay
OMIM:607694	POLR3A	11128	HP:0001272	Cerebellar atrophy
OMIM:607694	POLR3A	11128	HP:0002015	Dysphagia
OMIM:607694	POLR3A	11128	HP:0002174	Postural tremor
OMIM:607694	POLR3A	11128	HP:0000823	Delayed puberty
OMIM:607694	POLR3A	11128	HP:0000545	Myopia
OMIM:607694	POLR3A	11128	HP:0000668	Hypodontia
OMIM:607694	POLR3A	11128	HP:0002415	Leukodystrophy
OMIM:615658	TFG	10342	HP:0000648	Optic atrophy
OMIM:615658	TFG	10342	HP:0000007	Autosomal recessive inheritance
OMIM:615658	TFG	10342	HP:0000572	Visual loss
OMIM:615658	TFG	10342	HP:0001258	Spastic paraplegia
OMIM:615658	TFG	10342	HP:0003487	Babinski sign
OMIM:615658	TFG	10342	HP:0001347	Hyperreflexia
OMIM:613720	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:613720	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:613720	KCNQ2	3785	HP:0001250	Seizures
OMIM:613720	KCNQ2	3785	HP:0001332	Dystonia
OMIM:613720	KCNQ2	3785	HP:0001290	Generalized hypotonia
OMIM:613720	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:613720	KCNQ2	3785	HP:0003593	Infantile onset
OMIM:613720	KCNQ2	3785	HP:0001285	Spastic tetraparesis
OMIM:613720	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:611493	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:603689	TTN	7273	HP:0003701	Proximal muscle weakness
OMIM:603689	TTN	7273	HP:0009113	Diaphragmatic weakness
OMIM:603689	TTN	7273	HP:0009027	Foot dorsiflexor weakness
OMIM:603689	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:603689	TTN	7273	HP:0003722	Neck flexor weakness
OMIM:176807	MSR1	4481	HP:0012125	Prostate cancer
OMIM:176807	MSR1	4481	HP:0000006	Autosomal dominant inheritance
OMIM:176807	KLF6	1316	HP:0012125	Prostate cancer
OMIM:176807	KLF6	1316	HP:0000006	Autosomal dominant inheritance
OMIM:176807	MAD1L1	8379	HP:0012125	Prostate cancer
OMIM:176807	MAD1L1	8379	HP:0000006	Autosomal dominant inheritance
OMIM:130080	C1R	715	HP:0001388	Joint laxity
OMIM:130080	C1R	715	HP:0000977	Soft skin
OMIM:130080	C1R	715	HP:0001609	Hoarse voice
OMIM:130080	C1R	715	HP:0410027	Alveolar bone loss around teeth
OMIM:130080	C1R	715	HP:0000963	Thin skin
OMIM:130080	C1R	715	HP:0001075	Atrophic scars
OMIM:130080	C1R	715	HP:0000974	Hyperextensible skin
OMIM:130080	C1R	715	HP:0000023	Inguinal hernia
OMIM:130080	C1R	715	HP:0006480	Premature loss of teeth
OMIM:130080	C1R	715	HP:0002960	Autoimmunity
OMIM:130080	C1R	715	HP:0007517	Palmoplantar cutis laxa
OMIM:130080	C1R	715	HP:0030816	Gingival recession
OMIM:130080	C1R	715	HP:0000592	Blue sclerae
OMIM:130080	C1R	715	HP:0000704	Periodontitis
OMIM:130080	C1R	715	HP:0000978	Bruising susceptibility
OMIM:130080	C1R	715	HP:0000006	Autosomal dominant inheritance
OMIM:130080	C1R	715	HP:0000225	Gingival bleeding
OMIM:130080	C1R	715	HP:0001058	Poor wound healing
ORPHA:1154	PIEZO2	63895	HP:0005879	Congenital finger flexion contractures
ORPHA:1154	PIEZO2	63895	HP:0001387	Joint stiffness
ORPHA:1154	PIEZO2	63895	HP:0004097	Deviation of finger
ORPHA:1154	PIEZO2	63895	HP:0010489	Absent palmar crease
ORPHA:1154	PIEZO2	63895	HP:0010751	Dimple chin
ORPHA:1154	PIEZO2	63895	HP:0000490	Deeply set eye
ORPHA:1154	PIEZO2	63895	HP:0000508	Ptosis
ORPHA:1154	PIEZO2	63895	HP:0000767	Pectus excavatum
ORPHA:1154	PIEZO2	63895	HP:0000325	Triangular face
ORPHA:1154	PIEZO2	63895	HP:0000648	Optic atrophy
ORPHA:1154	PIEZO2	63895	HP:0000505	Visual impairment
ORPHA:1154	PIEZO2	63895	HP:0001166	Arachnodactyly
ORPHA:1154	PIEZO2	63895	HP:0001776	Bilateral talipes equinovarus
ORPHA:1154	PIEZO2	63895	HP:0000512	Abnormal electroretinogram
ORPHA:1154	PIEZO2	63895	HP:0000023	Inguinal hernia
ORPHA:1154	PIEZO2	63895	HP:0000602	Ophthalmoplegia
ORPHA:1154	PIEZO2	63895	HP:0000400	Macrotia
OMIM:208540	NPHP3	27031	HP:0001407	Hepatic cysts
OMIM:208540	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:208540	NPHP3	27031	HP:0002009	Potter facies
OMIM:208540	NPHP3	27031	HP:0100732	Pancreatic fibrosis
OMIM:208540	NPHP3	27031	HP:0001746	Asplenia
OMIM:208540	NPHP3	27031	HP:0002566	Intestinal malrotation
OMIM:208540	NPHP3	27031	HP:0001394	Cirrhosis
OMIM:208540	NPHP3	27031	HP:0001408	Bile duct proliferation
OMIM:208540	NPHP3	27031	HP:0000113	Polycystic kidney dysplasia
OMIM:208540	NPHP3	27031	HP:0001631	Atrial septal defect
OMIM:208540	NPHP3	27031	HP:0000083	Renal insufficiency
OMIM:208540	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:208540	NPHP3	27031	HP:0001650	Aortic valve stenosis
OMIM:208540	NPHP3	27031	HP:0002613	Biliary cirrhosis
OMIM:208540	NPHP3	27031	HP:0001562	Oligohydramnios
OMIM:208540	NPHP3	27031	HP:0001737	Pancreatic cysts
OMIM:208540	NPHP3	27031	HP:0000105	Enlarged kidney
OMIM:208540	NPHP3	27031	HP:0001748	Polysplenia
OMIM:208540	NPHP3	27031	HP:0002089	Pulmonary hypoplasia
OMIM:208540	NPHP3	27031	HP:0001643	Patent ductus arteriosus
OMIM:208540	NPHP3	27031	HP:0001396	Cholestasis
OMIM:208540	NPHP3	27031	HP:0002240	Hepatomegaly
OMIM:208540	NPHP3	27031	HP:0000110	Renal dysplasia
OMIM:160800	CLCN1	1180	HP:0012899	Handgrip myotonia
OMIM:160800	CLCN1	1180	HP:0003730	EMG: myotonic runs
OMIM:160800	CLCN1	1180	HP:0003812	Phenotypic variability
OMIM:160800	CLCN1	1180	HP:0000006	Autosomal dominant inheritance
OMIM:255110	CPT2	1376	HP:0003326	Myalgia
OMIM:255110	CPT2	1376	HP:0002913	Myoglobinuria
OMIM:255110	CPT2	1376	HP:0003552	Muscle stiffness
OMIM:255110	CPT2	1376	HP:0000083	Renal insufficiency
OMIM:255110	CPT2	1376	HP:0001324	Muscle weakness
OMIM:255110	CPT2	1376	HP:0003394	Muscle cramps
OMIM:255110	CPT2	1376	HP:0003201	Rhabdomyolysis
OMIM:255110	CPT2	1376	HP:0000006	Autosomal dominant inheritance
OMIM:255110	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:616390	ERCC3	2071	HP:0002299	Brittle hair
OMIM:616390	ERCC3	2071	HP:0045055	Tiger tail banding
OMIM:616390	ERCC3	2071	HP:0100543	Cognitive impairment
OMIM:616390	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:616390	ERCC3	2071	HP:0002208	Coarse hair
OMIM:616390	ERCC3	2071	HP:0000144	Decreased fertility
OMIM:616390	ERCC3	2071	HP:0002664	Neoplasm
OMIM:616390	ERCC3	2071	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:616390	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
OMIM:616390	ERCC3	2071	HP:0004322	Short stature
OMIM:616390	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:607454	TMEM240	339453	HP:0002174	Postural tremor
OMIM:607454	TMEM240	339453	HP:0002304	Akinesia
OMIM:607454	TMEM240	339453	HP:0010526	Dysgraphia
OMIM:607454	TMEM240	339453	HP:0001300	Parkinsonism
OMIM:607454	TMEM240	339453	HP:0003677	Slow progression
OMIM:607454	TMEM240	339453	HP:0007792	Microsaccadic pursuit
OMIM:607454	TMEM240	339453	HP:0001263	Global developmental delay
OMIM:607454	TMEM240	339453	HP:0002073	Progressive cerebellar ataxia
OMIM:607454	TMEM240	339453	HP:0000514	Slow saccadic eye movements
OMIM:607454	TMEM240	339453	HP:0000741	Apathy
OMIM:607454	TMEM240	339453	HP:0001272	Cerebellar atrophy
OMIM:607454	TMEM240	339453	HP:0002070	Limb ataxia
OMIM:607454	TMEM240	339453	HP:0100543	Cognitive impairment
OMIM:607454	TMEM240	339453	HP:0100710	Impulsivity
OMIM:607454	TMEM240	339453	HP:0002396	Cogwheel rigidity
OMIM:607454	TMEM240	339453	HP:0000718	Aggressive behavior
OMIM:607454	TMEM240	339453	HP:0002066	Gait ataxia
OMIM:607454	TMEM240	339453	HP:0001249	Intellectual disability
OMIM:607454	TMEM240	339453	HP:0002168	Scanning speech
OMIM:607454	TMEM240	339453	HP:0001260	Dysarthria
OMIM:607454	TMEM240	339453	HP:0001265	Hyporeflexia
OMIM:607454	TMEM240	339453	HP:0000006	Autosomal dominant inheritance
OMIM:615418	SLC25A4	291	HP:0000007	Autosomal recessive inheritance
OMIM:615418	SLC25A4	291	HP:0003128	Lactic acidosis
OMIM:615418	SLC25A4	291	HP:0003677	Slow progression
OMIM:615418	SLC25A4	291	HP:0003326	Myalgia
OMIM:615418	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:615418	SLC25A4	291	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615377	SCN1B	6324	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:250850	MAT1A	4143	HP:0000006	Autosomal dominant inheritance
OMIM:250850	MAT1A	4143	HP:0011096	Peripheral demyelination
OMIM:250850	MAT1A	4143	HP:0000007	Autosomal recessive inheritance
OMIM:250850	MAT1A	4143	HP:0007305	CNS demyelination
OMIM:250850	MAT1A	4143	HP:0001347	Hyperreflexia
OMIM:250850	MAT1A	4143	HP:0003235	Hypermethioninemia
OMIM:250850	MAT1A	4143	HP:0001332	Dystonia
ORPHA:183707	RAC2	5880	HP:0001974	Leukocytosis
ORPHA:183707	RAC2	5880	HP:0001058	Poor wound healing
ORPHA:183707	RAC2	5880	HP:0011990	Abnormality of neutrophil physiology
ORPHA:183707	RAC2	5880	HP:0002721	Immunodeficiency
ORPHA:2554	CDT1	81620	HP:0000064	Hypoplastic labia minora
ORPHA:2554	CDT1	81620	HP:0000160	Narrow mouth
ORPHA:2554	CDT1	81620	HP:0002878	Respiratory failure
ORPHA:2554	CDT1	81620	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	CDT1	81620	HP:0000278	Retrognathia
ORPHA:2554	CDT1	81620	HP:0003100	Slender long bone
ORPHA:2554	CDT1	81620	HP:0003510	Severe short stature
ORPHA:2554	CDT1	81620	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	CDT1	81620	HP:0000028	Cryptorchidism
ORPHA:2554	CDT1	81620	HP:0009939	Mandibular aplasia
ORPHA:2554	CDT1	81620	HP:0008665	Clitoral hypertrophy
ORPHA:2554	CDT1	81620	HP:0000252	Microcephaly
ORPHA:2554	CDT1	81620	HP:0100490	Camptodactyly of finger
ORPHA:2554	CDT1	81620	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	CDT1	81620	HP:0011267	Microtia, third degree
ORPHA:2554	CDT1	81620	HP:0001508	Failure to thrive
ORPHA:2554	CDT1	81620	HP:0005692	Joint hyperflexibility
ORPHA:2554	CDT1	81620	HP:0006443	Patellar aplasia
ORPHA:2554	CDT1	81620	HP:0000358	Posteriorly rotated ears
ORPHA:2554	CDT1	81620	HP:0009892	Anotia
ORPHA:2554	CDT1	81620	HP:0000772	Abnormality of the ribs
ORPHA:2554	CDT1	81620	HP:0002098	Respiratory distress
ORPHA:2554	CDT1	81620	HP:0006660	Aplastic clavicles
ORPHA:2554	CDT1	81620	HP:0002705	High, narrow palate
ORPHA:2554	CDT1	81620	HP:0000347	Micrognathia
ORPHA:2554	CDT1	81620	HP:0000060	Clitoral hypoplasia
ORPHA:2554	CDT1	81620	HP:0000059	Hypoplastic labia majora
ORPHA:2554	CDT1	81620	HP:0001363	Craniosynostosis
ORPHA:2554	CDT1	81620	HP:0011968	Feeding difficulties
ORPHA:2554	CDT1	81620	HP:0001511	Intrauterine growth retardation
ORPHA:2554	CDT1	81620	HP:0000369	Low-set ears
ORPHA:2554	CDT1	81620	HP:0002750	Delayed skeletal maturation
ORPHA:2554	ORC1	4998	HP:0000064	Hypoplastic labia minora
ORPHA:2554	ORC1	4998	HP:0000160	Narrow mouth
ORPHA:2554	ORC1	4998	HP:0002878	Respiratory failure
ORPHA:2554	ORC1	4998	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	ORC1	4998	HP:0000278	Retrognathia
ORPHA:2554	ORC1	4998	HP:0003100	Slender long bone
ORPHA:2554	ORC1	4998	HP:0003510	Severe short stature
ORPHA:2554	ORC1	4998	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	ORC1	4998	HP:0000028	Cryptorchidism
ORPHA:2554	ORC1	4998	HP:0009939	Mandibular aplasia
ORPHA:2554	ORC1	4998	HP:0008665	Clitoral hypertrophy
ORPHA:2554	ORC1	4998	HP:0000252	Microcephaly
ORPHA:2554	ORC1	4998	HP:0100490	Camptodactyly of finger
ORPHA:2554	ORC1	4998	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	ORC1	4998	HP:0011267	Microtia, third degree
ORPHA:2554	ORC1	4998	HP:0001508	Failure to thrive
ORPHA:2554	ORC1	4998	HP:0005692	Joint hyperflexibility
ORPHA:2554	ORC1	4998	HP:0006443	Patellar aplasia
ORPHA:2554	ORC1	4998	HP:0000358	Posteriorly rotated ears
ORPHA:2554	ORC1	4998	HP:0009892	Anotia
ORPHA:2554	ORC1	4998	HP:0000772	Abnormality of the ribs
ORPHA:2554	ORC1	4998	HP:0002098	Respiratory distress
ORPHA:2554	ORC1	4998	HP:0006660	Aplastic clavicles
ORPHA:2554	ORC1	4998	HP:0002705	High, narrow palate
ORPHA:2554	ORC1	4998	HP:0000347	Micrognathia
ORPHA:2554	ORC1	4998	HP:0000060	Clitoral hypoplasia
ORPHA:2554	ORC1	4998	HP:0000059	Hypoplastic labia majora
ORPHA:2554	ORC1	4998	HP:0001363	Craniosynostosis
ORPHA:2554	ORC1	4998	HP:0011968	Feeding difficulties
ORPHA:2554	ORC1	4998	HP:0001511	Intrauterine growth retardation
ORPHA:2554	ORC1	4998	HP:0000369	Low-set ears
ORPHA:2554	ORC1	4998	HP:0002750	Delayed skeletal maturation
ORPHA:2554	ORC4	5000	HP:0000064	Hypoplastic labia minora
ORPHA:2554	ORC4	5000	HP:0000160	Narrow mouth
ORPHA:2554	ORC4	5000	HP:0002878	Respiratory failure
ORPHA:2554	ORC4	5000	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	ORC4	5000	HP:0000278	Retrognathia
ORPHA:2554	ORC4	5000	HP:0003100	Slender long bone
ORPHA:2554	ORC4	5000	HP:0003510	Severe short stature
ORPHA:2554	ORC4	5000	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	ORC4	5000	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	ORC4	5000	HP:0000028	Cryptorchidism
ORPHA:2554	ORC4	5000	HP:0009939	Mandibular aplasia
ORPHA:2554	ORC4	5000	HP:0008665	Clitoral hypertrophy
ORPHA:2554	ORC4	5000	HP:0000252	Microcephaly
ORPHA:2554	ORC4	5000	HP:0100490	Camptodactyly of finger
ORPHA:2554	ORC4	5000	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	ORC4	5000	HP:0011267	Microtia, third degree
ORPHA:2554	ORC4	5000	HP:0001508	Failure to thrive
ORPHA:2554	ORC4	5000	HP:0005692	Joint hyperflexibility
ORPHA:2554	ORC4	5000	HP:0006443	Patellar aplasia
ORPHA:2554	ORC4	5000	HP:0000358	Posteriorly rotated ears
ORPHA:2554	ORC4	5000	HP:0009892	Anotia
ORPHA:2554	ORC4	5000	HP:0000772	Abnormality of the ribs
ORPHA:2554	ORC4	5000	HP:0002098	Respiratory distress
ORPHA:2554	ORC4	5000	HP:0006660	Aplastic clavicles
ORPHA:2554	ORC4	5000	HP:0002705	High, narrow palate
ORPHA:2554	ORC4	5000	HP:0000347	Micrognathia
ORPHA:2554	ORC4	5000	HP:0000060	Clitoral hypoplasia
ORPHA:2554	ORC4	5000	HP:0000059	Hypoplastic labia majora
ORPHA:2554	ORC4	5000	HP:0001363	Craniosynostosis
ORPHA:2554	ORC4	5000	HP:0011968	Feeding difficulties
ORPHA:2554	ORC4	5000	HP:0001511	Intrauterine growth retardation
ORPHA:2554	ORC4	5000	HP:0000369	Low-set ears
ORPHA:2554	ORC4	5000	HP:0002750	Delayed skeletal maturation
ORPHA:2554	ORC6	23594	HP:0000064	Hypoplastic labia minora
ORPHA:2554	ORC6	23594	HP:0000160	Narrow mouth
ORPHA:2554	ORC6	23594	HP:0002878	Respiratory failure
ORPHA:2554	ORC6	23594	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	ORC6	23594	HP:0000278	Retrognathia
ORPHA:2554	ORC6	23594	HP:0003100	Slender long bone
ORPHA:2554	ORC6	23594	HP:0003510	Severe short stature
ORPHA:2554	ORC6	23594	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	ORC6	23594	HP:0000028	Cryptorchidism
ORPHA:2554	ORC6	23594	HP:0009939	Mandibular aplasia
ORPHA:2554	ORC6	23594	HP:0008665	Clitoral hypertrophy
ORPHA:2554	ORC6	23594	HP:0000252	Microcephaly
ORPHA:2554	ORC6	23594	HP:0100490	Camptodactyly of finger
ORPHA:2554	ORC6	23594	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	ORC6	23594	HP:0011267	Microtia, third degree
ORPHA:2554	ORC6	23594	HP:0001508	Failure to thrive
ORPHA:2554	ORC6	23594	HP:0005692	Joint hyperflexibility
ORPHA:2554	ORC6	23594	HP:0006443	Patellar aplasia
ORPHA:2554	ORC6	23594	HP:0000358	Posteriorly rotated ears
ORPHA:2554	ORC6	23594	HP:0009892	Anotia
ORPHA:2554	ORC6	23594	HP:0000772	Abnormality of the ribs
ORPHA:2554	ORC6	23594	HP:0002098	Respiratory distress
ORPHA:2554	ORC6	23594	HP:0006660	Aplastic clavicles
ORPHA:2554	ORC6	23594	HP:0002705	High, narrow palate
ORPHA:2554	ORC6	23594	HP:0000347	Micrognathia
ORPHA:2554	ORC6	23594	HP:0000060	Clitoral hypoplasia
ORPHA:2554	ORC6	23594	HP:0000059	Hypoplastic labia majora
ORPHA:2554	ORC6	23594	HP:0001363	Craniosynostosis
ORPHA:2554	ORC6	23594	HP:0011968	Feeding difficulties
ORPHA:2554	ORC6	23594	HP:0001511	Intrauterine growth retardation
ORPHA:2554	ORC6	23594	HP:0000369	Low-set ears
ORPHA:2554	ORC6	23594	HP:0002750	Delayed skeletal maturation
ORPHA:2554	GMNN	51053	HP:0000064	Hypoplastic labia minora
ORPHA:2554	GMNN	51053	HP:0000160	Narrow mouth
ORPHA:2554	GMNN	51053	HP:0002878	Respiratory failure
ORPHA:2554	GMNN	51053	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	GMNN	51053	HP:0000278	Retrognathia
ORPHA:2554	GMNN	51053	HP:0003100	Slender long bone
ORPHA:2554	GMNN	51053	HP:0003510	Severe short stature
ORPHA:2554	GMNN	51053	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	GMNN	51053	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	GMNN	51053	HP:0000028	Cryptorchidism
ORPHA:2554	GMNN	51053	HP:0009939	Mandibular aplasia
ORPHA:2554	GMNN	51053	HP:0008665	Clitoral hypertrophy
ORPHA:2554	GMNN	51053	HP:0000252	Microcephaly
ORPHA:2554	GMNN	51053	HP:0100490	Camptodactyly of finger
ORPHA:2554	GMNN	51053	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	GMNN	51053	HP:0011267	Microtia, third degree
ORPHA:2554	GMNN	51053	HP:0001508	Failure to thrive
ORPHA:2554	GMNN	51053	HP:0005692	Joint hyperflexibility
ORPHA:2554	GMNN	51053	HP:0006443	Patellar aplasia
ORPHA:2554	GMNN	51053	HP:0000358	Posteriorly rotated ears
ORPHA:2554	GMNN	51053	HP:0009892	Anotia
ORPHA:2554	GMNN	51053	HP:0000772	Abnormality of the ribs
ORPHA:2554	GMNN	51053	HP:0002098	Respiratory distress
ORPHA:2554	GMNN	51053	HP:0006660	Aplastic clavicles
ORPHA:2554	GMNN	51053	HP:0002705	High, narrow palate
ORPHA:2554	GMNN	51053	HP:0000347	Micrognathia
ORPHA:2554	GMNN	51053	HP:0000060	Clitoral hypoplasia
ORPHA:2554	GMNN	51053	HP:0000059	Hypoplastic labia majora
ORPHA:2554	GMNN	51053	HP:0001363	Craniosynostosis
ORPHA:2554	GMNN	51053	HP:0011968	Feeding difficulties
ORPHA:2554	GMNN	51053	HP:0001511	Intrauterine growth retardation
ORPHA:2554	GMNN	51053	HP:0000369	Low-set ears
ORPHA:2554	GMNN	51053	HP:0002750	Delayed skeletal maturation
ORPHA:2554	CDC6	990	HP:0000064	Hypoplastic labia minora
ORPHA:2554	CDC6	990	HP:0000160	Narrow mouth
ORPHA:2554	CDC6	990	HP:0002878	Respiratory failure
ORPHA:2554	CDC6	990	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	CDC6	990	HP:0000278	Retrognathia
ORPHA:2554	CDC6	990	HP:0003100	Slender long bone
ORPHA:2554	CDC6	990	HP:0003510	Severe short stature
ORPHA:2554	CDC6	990	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	CDC6	990	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	CDC6	990	HP:0000028	Cryptorchidism
ORPHA:2554	CDC6	990	HP:0009939	Mandibular aplasia
ORPHA:2554	CDC6	990	HP:0008665	Clitoral hypertrophy
ORPHA:2554	CDC6	990	HP:0000252	Microcephaly
ORPHA:2554	CDC6	990	HP:0100490	Camptodactyly of finger
ORPHA:2554	CDC6	990	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	CDC6	990	HP:0011267	Microtia, third degree
ORPHA:2554	CDC6	990	HP:0001508	Failure to thrive
ORPHA:2554	CDC6	990	HP:0005692	Joint hyperflexibility
ORPHA:2554	CDC6	990	HP:0006443	Patellar aplasia
ORPHA:2554	CDC6	990	HP:0000358	Posteriorly rotated ears
ORPHA:2554	CDC6	990	HP:0009892	Anotia
ORPHA:2554	CDC6	990	HP:0000772	Abnormality of the ribs
ORPHA:2554	CDC6	990	HP:0002098	Respiratory distress
ORPHA:2554	CDC6	990	HP:0006660	Aplastic clavicles
ORPHA:2554	CDC6	990	HP:0002705	High, narrow palate
ORPHA:2554	CDC6	990	HP:0000347	Micrognathia
ORPHA:2554	CDC6	990	HP:0000060	Clitoral hypoplasia
ORPHA:2554	CDC6	990	HP:0000059	Hypoplastic labia majora
ORPHA:2554	CDC6	990	HP:0001363	Craniosynostosis
ORPHA:2554	CDC6	990	HP:0011968	Feeding difficulties
ORPHA:2554	CDC6	990	HP:0001511	Intrauterine growth retardation
ORPHA:2554	CDC6	990	HP:0000369	Low-set ears
ORPHA:2554	CDC6	990	HP:0002750	Delayed skeletal maturation
ORPHA:2554	CDC45	8318	HP:0000064	Hypoplastic labia minora
ORPHA:2554	CDC45	8318	HP:0000160	Narrow mouth
ORPHA:2554	CDC45	8318	HP:0002878	Respiratory failure
ORPHA:2554	CDC45	8318	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	CDC45	8318	HP:0000278	Retrognathia
ORPHA:2554	CDC45	8318	HP:0003100	Slender long bone
ORPHA:2554	CDC45	8318	HP:0003510	Severe short stature
ORPHA:2554	CDC45	8318	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	CDC45	8318	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	CDC45	8318	HP:0000028	Cryptorchidism
ORPHA:2554	CDC45	8318	HP:0009939	Mandibular aplasia
ORPHA:2554	CDC45	8318	HP:0008665	Clitoral hypertrophy
ORPHA:2554	CDC45	8318	HP:0000252	Microcephaly
ORPHA:2554	CDC45	8318	HP:0100490	Camptodactyly of finger
ORPHA:2554	CDC45	8318	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	CDC45	8318	HP:0011267	Microtia, third degree
ORPHA:2554	CDC45	8318	HP:0001508	Failure to thrive
ORPHA:2554	CDC45	8318	HP:0005692	Joint hyperflexibility
ORPHA:2554	CDC45	8318	HP:0006443	Patellar aplasia
ORPHA:2554	CDC45	8318	HP:0000358	Posteriorly rotated ears
ORPHA:2554	CDC45	8318	HP:0009892	Anotia
ORPHA:2554	CDC45	8318	HP:0000772	Abnormality of the ribs
ORPHA:2554	CDC45	8318	HP:0002098	Respiratory distress
ORPHA:2554	CDC45	8318	HP:0006660	Aplastic clavicles
ORPHA:2554	CDC45	8318	HP:0002705	High, narrow palate
ORPHA:2554	CDC45	8318	HP:0000347	Micrognathia
ORPHA:2554	CDC45	8318	HP:0000060	Clitoral hypoplasia
ORPHA:2554	CDC45	8318	HP:0000059	Hypoplastic labia majora
ORPHA:2554	CDC45	8318	HP:0001363	Craniosynostosis
ORPHA:2554	CDC45	8318	HP:0011968	Feeding difficulties
ORPHA:2554	CDC45	8318	HP:0001511	Intrauterine growth retardation
ORPHA:2554	CDC45	8318	HP:0000369	Low-set ears
ORPHA:2554	CDC45	8318	HP:0002750	Delayed skeletal maturation
OMIM:614331	TGFBR2	7048	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:614331	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
ORPHA:615	PRKAR1A	5573	HP:0002875	Exertional dyspnea
ORPHA:615	PRKAR1A	5573	HP:0030148	Heart murmur
ORPHA:615	PRKAR1A	5573	HP:0006691	Pulmonic valve myxoma
ORPHA:615	PRKAR1A	5573	HP:0011672	Cardiac myxoma
ORPHA:615	PRKAR1A	5573	HP:0003388	Easy fatigability
ORPHA:2461	PIEZO2	63895	HP:0000160	Narrow mouth
ORPHA:2461	PIEZO2	63895	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:2461	PIEZO2	63895	HP:0001166	Arachnodactyly
ORPHA:2461	PIEZO2	63895	HP:0001508	Failure to thrive
ORPHA:2461	PIEZO2	63895	HP:0001511	Intrauterine growth retardation
ORPHA:2461	PIEZO2	63895	HP:0001252	Muscular hypotonia
ORPHA:2461	PIEZO2	63895	HP:0001387	Joint stiffness
ORPHA:2461	PIEZO2	63895	HP:0000176	Submucous cleft hard palate
ORPHA:2461	PIEZO2	63895	HP:0000347	Micrognathia
ORPHA:2461	PIEZO2	63895	HP:0000767	Pectus excavatum
ORPHA:2461	PIEZO2	63895	HP:0011968	Feeding difficulties
ORPHA:2461	PIEZO2	63895	HP:0000508	Ptosis
ORPHA:2461	PIEZO2	63895	HP:0001263	Global developmental delay
ORPHA:2461	PIEZO2	63895	HP:0000358	Posteriorly rotated ears
ORPHA:2461	PIEZO2	63895	HP:0100490	Camptodactyly of finger
ORPHA:2461	PIEZO2	63895	HP:0002974	Radioulnar synostosis
ORPHA:2461	PIEZO2	63895	HP:0000369	Low-set ears
ORPHA:2461	PIEZO2	63895	HP:0001249	Intellectual disability
ORPHA:2461	PIEZO2	63895	HP:0000252	Microcephaly
ORPHA:2461	PIEZO2	63895	HP:0012745	Short palpebral fissure
ORPHA:2461	PIEZO2	63895	HP:0000193	Bifid uvula
ORPHA:2461	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:2461	PIEZO2	63895	HP:0000298	Mask-like facies
ORPHA:2461	PIEZO2	63895	HP:0002808	Kyphosis
ORPHA:2461	PIEZO2	63895	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:2461	PIEZO2	63895	HP:0000581	Blepharophimosis
ORPHA:2461	PIEZO2	63895	HP:0001328	Specific learning disability
ORPHA:2461	PIEZO2	63895	HP:0003510	Severe short stature
ORPHA:2461	PIEZO2	63895	HP:0003202	Skeletal muscle atrophy
ORPHA:2461	PIEZO2	63895	HP:0000768	Pectus carinatum
ORPHA:2461	PIEZO2	63895	HP:0000278	Retrognathia
ORPHA:2461	PIEZO2	63895	HP:0002650	Scoliosis
ORPHA:2461	PIEZO2	63895	HP:0003560	Muscular dystrophy
OMIM:614250	MOG	4340	HP:0002524	Cataplexy
OMIM:614250	MOG	4340	HP:0001513	Obesity
OMIM:614250	MOG	4340	HP:0002189	Excessive daytime sleepiness
OMIM:614250	MOG	4340	HP:0030050	Narcolepsy
OMIM:614250	MOG	4340	HP:0000006	Autosomal dominant inheritance
ORPHA:44	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX19	5824	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX19	5824	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX19	5824	HP:0000639	Nystagmus
ORPHA:44	PEX19	5824	HP:0000268	Dolichocephaly
ORPHA:44	PEX19	5824	HP:0000518	Cataract
ORPHA:44	PEX19	5824	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX19	5824	HP:0000431	Wide nasal bridge
ORPHA:44	PEX19	5824	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX19	5824	HP:0004322	Short stature
ORPHA:44	PEX19	5824	HP:0000463	Anteverted nares
ORPHA:44	PEX19	5824	HP:0002376	Developmental regression
ORPHA:44	PEX19	5824	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX19	5824	HP:0000508	Ptosis
ORPHA:44	PEX19	5824	HP:0001252	Muscular hypotonia
ORPHA:44	PEX19	5824	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX19	5824	HP:0100022	Abnormality of movement
ORPHA:44	PEX19	5824	HP:0000648	Optic atrophy
ORPHA:44	PEX19	5824	HP:0001392	Abnormality of the liver
ORPHA:44	PEX19	5824	HP:0000174	Abnormality of the palate
ORPHA:44	PEX19	5824	HP:0000256	Macrocephaly
ORPHA:44	PEX19	5824	HP:0000486	Strabismus
ORPHA:44	PEX19	5824	HP:0000348	High forehead
ORPHA:44	PEX19	5824	HP:0000505	Visual impairment
ORPHA:44	PEX19	5824	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX19	5824	HP:0002353	EEG abnormality
ORPHA:44	PEX19	5824	HP:0001250	Seizures
ORPHA:44	PEX19	5824	HP:0011344	Severe global developmental delay
ORPHA:44	PEX19	5824	HP:0001347	Hyperreflexia
ORPHA:44	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX16	9409	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX16	9409	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX16	9409	HP:0000639	Nystagmus
ORPHA:44	PEX16	9409	HP:0000268	Dolichocephaly
ORPHA:44	PEX16	9409	HP:0000518	Cataract
ORPHA:44	PEX16	9409	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX16	9409	HP:0000431	Wide nasal bridge
ORPHA:44	PEX16	9409	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX16	9409	HP:0004322	Short stature
ORPHA:44	PEX16	9409	HP:0000463	Anteverted nares
ORPHA:44	PEX16	9409	HP:0002376	Developmental regression
ORPHA:44	PEX16	9409	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX16	9409	HP:0000508	Ptosis
ORPHA:44	PEX16	9409	HP:0001252	Muscular hypotonia
ORPHA:44	PEX16	9409	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX16	9409	HP:0100022	Abnormality of movement
ORPHA:44	PEX16	9409	HP:0000648	Optic atrophy
ORPHA:44	PEX16	9409	HP:0001392	Abnormality of the liver
ORPHA:44	PEX16	9409	HP:0000174	Abnormality of the palate
ORPHA:44	PEX16	9409	HP:0000256	Macrocephaly
ORPHA:44	PEX16	9409	HP:0000486	Strabismus
ORPHA:44	PEX16	9409	HP:0000348	High forehead
ORPHA:44	PEX16	9409	HP:0000505	Visual impairment
ORPHA:44	PEX16	9409	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX16	9409	HP:0002353	EEG abnormality
ORPHA:44	PEX16	9409	HP:0001250	Seizures
ORPHA:44	PEX16	9409	HP:0011344	Severe global developmental delay
ORPHA:44	PEX16	9409	HP:0001347	Hyperreflexia
ORPHA:44	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX2	5828	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX2	5828	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX2	5828	HP:0000639	Nystagmus
ORPHA:44	PEX2	5828	HP:0000268	Dolichocephaly
ORPHA:44	PEX2	5828	HP:0000518	Cataract
ORPHA:44	PEX2	5828	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX2	5828	HP:0000431	Wide nasal bridge
ORPHA:44	PEX2	5828	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX2	5828	HP:0004322	Short stature
ORPHA:44	PEX2	5828	HP:0000463	Anteverted nares
ORPHA:44	PEX2	5828	HP:0002376	Developmental regression
ORPHA:44	PEX2	5828	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX2	5828	HP:0000508	Ptosis
ORPHA:44	PEX2	5828	HP:0001252	Muscular hypotonia
ORPHA:44	PEX2	5828	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX2	5828	HP:0100022	Abnormality of movement
ORPHA:44	PEX2	5828	HP:0000648	Optic atrophy
ORPHA:44	PEX2	5828	HP:0001392	Abnormality of the liver
ORPHA:44	PEX2	5828	HP:0000174	Abnormality of the palate
ORPHA:44	PEX2	5828	HP:0000256	Macrocephaly
ORPHA:44	PEX2	5828	HP:0000486	Strabismus
ORPHA:44	PEX2	5828	HP:0000348	High forehead
ORPHA:44	PEX2	5828	HP:0000505	Visual impairment
ORPHA:44	PEX2	5828	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX2	5828	HP:0002353	EEG abnormality
ORPHA:44	PEX2	5828	HP:0001250	Seizures
ORPHA:44	PEX2	5828	HP:0011344	Severe global developmental delay
ORPHA:44	PEX2	5828	HP:0001347	Hyperreflexia
ORPHA:44	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX1	5189	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX1	5189	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX1	5189	HP:0000639	Nystagmus
ORPHA:44	PEX1	5189	HP:0000268	Dolichocephaly
ORPHA:44	PEX1	5189	HP:0000518	Cataract
ORPHA:44	PEX1	5189	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX1	5189	HP:0000431	Wide nasal bridge
ORPHA:44	PEX1	5189	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX1	5189	HP:0004322	Short stature
ORPHA:44	PEX1	5189	HP:0000463	Anteverted nares
ORPHA:44	PEX1	5189	HP:0002376	Developmental regression
ORPHA:44	PEX1	5189	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX1	5189	HP:0000508	Ptosis
ORPHA:44	PEX1	5189	HP:0001252	Muscular hypotonia
ORPHA:44	PEX1	5189	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX1	5189	HP:0100022	Abnormality of movement
ORPHA:44	PEX1	5189	HP:0000648	Optic atrophy
ORPHA:44	PEX1	5189	HP:0001392	Abnormality of the liver
ORPHA:44	PEX1	5189	HP:0000174	Abnormality of the palate
ORPHA:44	PEX1	5189	HP:0000256	Macrocephaly
ORPHA:44	PEX1	5189	HP:0000486	Strabismus
ORPHA:44	PEX1	5189	HP:0000348	High forehead
ORPHA:44	PEX1	5189	HP:0000505	Visual impairment
ORPHA:44	PEX1	5189	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX1	5189	HP:0002353	EEG abnormality
ORPHA:44	PEX1	5189	HP:0001250	Seizures
ORPHA:44	PEX1	5189	HP:0011344	Severe global developmental delay
ORPHA:44	PEX1	5189	HP:0001347	Hyperreflexia
ORPHA:44	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX5	5830	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX5	5830	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX5	5830	HP:0000639	Nystagmus
ORPHA:44	PEX5	5830	HP:0000268	Dolichocephaly
ORPHA:44	PEX5	5830	HP:0000518	Cataract
ORPHA:44	PEX5	5830	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX5	5830	HP:0000431	Wide nasal bridge
ORPHA:44	PEX5	5830	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX5	5830	HP:0004322	Short stature
ORPHA:44	PEX5	5830	HP:0000463	Anteverted nares
ORPHA:44	PEX5	5830	HP:0002376	Developmental regression
ORPHA:44	PEX5	5830	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX5	5830	HP:0000508	Ptosis
ORPHA:44	PEX5	5830	HP:0001252	Muscular hypotonia
ORPHA:44	PEX5	5830	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX5	5830	HP:0100022	Abnormality of movement
ORPHA:44	PEX5	5830	HP:0000648	Optic atrophy
ORPHA:44	PEX5	5830	HP:0001392	Abnormality of the liver
ORPHA:44	PEX5	5830	HP:0000174	Abnormality of the palate
ORPHA:44	PEX5	5830	HP:0000256	Macrocephaly
ORPHA:44	PEX5	5830	HP:0000486	Strabismus
ORPHA:44	PEX5	5830	HP:0000348	High forehead
ORPHA:44	PEX5	5830	HP:0000505	Visual impairment
ORPHA:44	PEX5	5830	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX5	5830	HP:0002353	EEG abnormality
ORPHA:44	PEX5	5830	HP:0001250	Seizures
ORPHA:44	PEX5	5830	HP:0011344	Severe global developmental delay
ORPHA:44	PEX5	5830	HP:0001347	Hyperreflexia
ORPHA:44	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX6	5190	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX6	5190	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX6	5190	HP:0000639	Nystagmus
ORPHA:44	PEX6	5190	HP:0000268	Dolichocephaly
ORPHA:44	PEX6	5190	HP:0000518	Cataract
ORPHA:44	PEX6	5190	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX6	5190	HP:0000431	Wide nasal bridge
ORPHA:44	PEX6	5190	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX6	5190	HP:0004322	Short stature
ORPHA:44	PEX6	5190	HP:0000463	Anteverted nares
ORPHA:44	PEX6	5190	HP:0002376	Developmental regression
ORPHA:44	PEX6	5190	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX6	5190	HP:0000508	Ptosis
ORPHA:44	PEX6	5190	HP:0001252	Muscular hypotonia
ORPHA:44	PEX6	5190	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX6	5190	HP:0100022	Abnormality of movement
ORPHA:44	PEX6	5190	HP:0000648	Optic atrophy
ORPHA:44	PEX6	5190	HP:0001392	Abnormality of the liver
ORPHA:44	PEX6	5190	HP:0000174	Abnormality of the palate
ORPHA:44	PEX6	5190	HP:0000256	Macrocephaly
ORPHA:44	PEX6	5190	HP:0000486	Strabismus
ORPHA:44	PEX6	5190	HP:0000348	High forehead
ORPHA:44	PEX6	5190	HP:0000505	Visual impairment
ORPHA:44	PEX6	5190	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX6	5190	HP:0002353	EEG abnormality
ORPHA:44	PEX6	5190	HP:0001250	Seizures
ORPHA:44	PEX6	5190	HP:0011344	Severe global developmental delay
ORPHA:44	PEX6	5190	HP:0001347	Hyperreflexia
ORPHA:44	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX10	5192	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX10	5192	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX10	5192	HP:0000639	Nystagmus
ORPHA:44	PEX10	5192	HP:0000268	Dolichocephaly
ORPHA:44	PEX10	5192	HP:0000518	Cataract
ORPHA:44	PEX10	5192	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX10	5192	HP:0000431	Wide nasal bridge
ORPHA:44	PEX10	5192	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX10	5192	HP:0004322	Short stature
ORPHA:44	PEX10	5192	HP:0000463	Anteverted nares
ORPHA:44	PEX10	5192	HP:0002376	Developmental regression
ORPHA:44	PEX10	5192	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX10	5192	HP:0000508	Ptosis
ORPHA:44	PEX10	5192	HP:0001252	Muscular hypotonia
ORPHA:44	PEX10	5192	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX10	5192	HP:0100022	Abnormality of movement
ORPHA:44	PEX10	5192	HP:0000648	Optic atrophy
ORPHA:44	PEX10	5192	HP:0001392	Abnormality of the liver
ORPHA:44	PEX10	5192	HP:0000174	Abnormality of the palate
ORPHA:44	PEX10	5192	HP:0000256	Macrocephaly
ORPHA:44	PEX10	5192	HP:0000486	Strabismus
ORPHA:44	PEX10	5192	HP:0000348	High forehead
ORPHA:44	PEX10	5192	HP:0000505	Visual impairment
ORPHA:44	PEX10	5192	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX10	5192	HP:0002353	EEG abnormality
ORPHA:44	PEX10	5192	HP:0001250	Seizures
ORPHA:44	PEX10	5192	HP:0011344	Severe global developmental delay
ORPHA:44	PEX10	5192	HP:0001347	Hyperreflexia
ORPHA:44	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX12	5193	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX12	5193	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX12	5193	HP:0000639	Nystagmus
ORPHA:44	PEX12	5193	HP:0000268	Dolichocephaly
ORPHA:44	PEX12	5193	HP:0000518	Cataract
ORPHA:44	PEX12	5193	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX12	5193	HP:0000431	Wide nasal bridge
ORPHA:44	PEX12	5193	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX12	5193	HP:0004322	Short stature
ORPHA:44	PEX12	5193	HP:0000463	Anteverted nares
ORPHA:44	PEX12	5193	HP:0002376	Developmental regression
ORPHA:44	PEX12	5193	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX12	5193	HP:0000508	Ptosis
ORPHA:44	PEX12	5193	HP:0001252	Muscular hypotonia
ORPHA:44	PEX12	5193	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX12	5193	HP:0100022	Abnormality of movement
ORPHA:44	PEX12	5193	HP:0000648	Optic atrophy
ORPHA:44	PEX12	5193	HP:0001392	Abnormality of the liver
ORPHA:44	PEX12	5193	HP:0000174	Abnormality of the palate
ORPHA:44	PEX12	5193	HP:0000256	Macrocephaly
ORPHA:44	PEX12	5193	HP:0000486	Strabismus
ORPHA:44	PEX12	5193	HP:0000348	High forehead
ORPHA:44	PEX12	5193	HP:0000505	Visual impairment
ORPHA:44	PEX12	5193	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX12	5193	HP:0002353	EEG abnormality
ORPHA:44	PEX12	5193	HP:0001250	Seizures
ORPHA:44	PEX12	5193	HP:0011344	Severe global developmental delay
ORPHA:44	PEX12	5193	HP:0001347	Hyperreflexia
ORPHA:44	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX13	5194	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX13	5194	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX13	5194	HP:0000639	Nystagmus
ORPHA:44	PEX13	5194	HP:0000268	Dolichocephaly
ORPHA:44	PEX13	5194	HP:0000518	Cataract
ORPHA:44	PEX13	5194	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX13	5194	HP:0000431	Wide nasal bridge
ORPHA:44	PEX13	5194	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX13	5194	HP:0004322	Short stature
ORPHA:44	PEX13	5194	HP:0000463	Anteverted nares
ORPHA:44	PEX13	5194	HP:0002376	Developmental regression
ORPHA:44	PEX13	5194	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX13	5194	HP:0000508	Ptosis
ORPHA:44	PEX13	5194	HP:0001252	Muscular hypotonia
ORPHA:44	PEX13	5194	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX13	5194	HP:0100022	Abnormality of movement
ORPHA:44	PEX13	5194	HP:0000648	Optic atrophy
ORPHA:44	PEX13	5194	HP:0001392	Abnormality of the liver
ORPHA:44	PEX13	5194	HP:0000174	Abnormality of the palate
ORPHA:44	PEX13	5194	HP:0000256	Macrocephaly
ORPHA:44	PEX13	5194	HP:0000486	Strabismus
ORPHA:44	PEX13	5194	HP:0000348	High forehead
ORPHA:44	PEX13	5194	HP:0000505	Visual impairment
ORPHA:44	PEX13	5194	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX13	5194	HP:0002353	EEG abnormality
ORPHA:44	PEX13	5194	HP:0001250	Seizures
ORPHA:44	PEX13	5194	HP:0011344	Severe global developmental delay
ORPHA:44	PEX13	5194	HP:0001347	Hyperreflexia
ORPHA:44	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX14	5195	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX14	5195	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX14	5195	HP:0000639	Nystagmus
ORPHA:44	PEX14	5195	HP:0000268	Dolichocephaly
ORPHA:44	PEX14	5195	HP:0000518	Cataract
ORPHA:44	PEX14	5195	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX14	5195	HP:0000431	Wide nasal bridge
ORPHA:44	PEX14	5195	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX14	5195	HP:0004322	Short stature
ORPHA:44	PEX14	5195	HP:0000463	Anteverted nares
ORPHA:44	PEX14	5195	HP:0002376	Developmental regression
ORPHA:44	PEX14	5195	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX14	5195	HP:0000508	Ptosis
ORPHA:44	PEX14	5195	HP:0001252	Muscular hypotonia
ORPHA:44	PEX14	5195	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX14	5195	HP:0100022	Abnormality of movement
ORPHA:44	PEX14	5195	HP:0000648	Optic atrophy
ORPHA:44	PEX14	5195	HP:0001392	Abnormality of the liver
ORPHA:44	PEX14	5195	HP:0000174	Abnormality of the palate
ORPHA:44	PEX14	5195	HP:0000256	Macrocephaly
ORPHA:44	PEX14	5195	HP:0000486	Strabismus
ORPHA:44	PEX14	5195	HP:0000348	High forehead
ORPHA:44	PEX14	5195	HP:0000505	Visual impairment
ORPHA:44	PEX14	5195	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX14	5195	HP:0002353	EEG abnormality
ORPHA:44	PEX14	5195	HP:0001250	Seizures
ORPHA:44	PEX14	5195	HP:0011344	Severe global developmental delay
ORPHA:44	PEX14	5195	HP:0001347	Hyperreflexia
ORPHA:44	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX26	55670	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX26	55670	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX26	55670	HP:0000639	Nystagmus
ORPHA:44	PEX26	55670	HP:0000268	Dolichocephaly
ORPHA:44	PEX26	55670	HP:0000518	Cataract
ORPHA:44	PEX26	55670	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX26	55670	HP:0000431	Wide nasal bridge
ORPHA:44	PEX26	55670	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX26	55670	HP:0004322	Short stature
ORPHA:44	PEX26	55670	HP:0000463	Anteverted nares
ORPHA:44	PEX26	55670	HP:0002376	Developmental regression
ORPHA:44	PEX26	55670	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX26	55670	HP:0000508	Ptosis
ORPHA:44	PEX26	55670	HP:0001252	Muscular hypotonia
ORPHA:44	PEX26	55670	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX26	55670	HP:0100022	Abnormality of movement
ORPHA:44	PEX26	55670	HP:0000648	Optic atrophy
ORPHA:44	PEX26	55670	HP:0001392	Abnormality of the liver
ORPHA:44	PEX26	55670	HP:0000174	Abnormality of the palate
ORPHA:44	PEX26	55670	HP:0000256	Macrocephaly
ORPHA:44	PEX26	55670	HP:0000486	Strabismus
ORPHA:44	PEX26	55670	HP:0000348	High forehead
ORPHA:44	PEX26	55670	HP:0000505	Visual impairment
ORPHA:44	PEX26	55670	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX26	55670	HP:0002353	EEG abnormality
ORPHA:44	PEX26	55670	HP:0001250	Seizures
ORPHA:44	PEX26	55670	HP:0011344	Severe global developmental delay
ORPHA:44	PEX26	55670	HP:0001347	Hyperreflexia
ORPHA:44	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX3	8504	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX3	8504	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX3	8504	HP:0000639	Nystagmus
ORPHA:44	PEX3	8504	HP:0000268	Dolichocephaly
ORPHA:44	PEX3	8504	HP:0000518	Cataract
ORPHA:44	PEX3	8504	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX3	8504	HP:0000431	Wide nasal bridge
ORPHA:44	PEX3	8504	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX3	8504	HP:0004322	Short stature
ORPHA:44	PEX3	8504	HP:0000463	Anteverted nares
ORPHA:44	PEX3	8504	HP:0002376	Developmental regression
ORPHA:44	PEX3	8504	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX3	8504	HP:0000508	Ptosis
ORPHA:44	PEX3	8504	HP:0001252	Muscular hypotonia
ORPHA:44	PEX3	8504	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX3	8504	HP:0100022	Abnormality of movement
ORPHA:44	PEX3	8504	HP:0000648	Optic atrophy
ORPHA:44	PEX3	8504	HP:0001392	Abnormality of the liver
ORPHA:44	PEX3	8504	HP:0000174	Abnormality of the palate
ORPHA:44	PEX3	8504	HP:0000256	Macrocephaly
ORPHA:44	PEX3	8504	HP:0000486	Strabismus
ORPHA:44	PEX3	8504	HP:0000348	High forehead
ORPHA:44	PEX3	8504	HP:0000505	Visual impairment
ORPHA:44	PEX3	8504	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX3	8504	HP:0002353	EEG abnormality
ORPHA:44	PEX3	8504	HP:0001250	Seizures
ORPHA:44	PEX3	8504	HP:0011344	Severe global developmental delay
ORPHA:44	PEX3	8504	HP:0001347	Hyperreflexia
ORPHA:44	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHA:44	PEX11B	8799	HP:0002269	Abnormality of neuronal migration
ORPHA:44	PEX11B	8799	HP:0000260	Wide anterior fontanel
ORPHA:44	PEX11B	8799	HP:0000639	Nystagmus
ORPHA:44	PEX11B	8799	HP:0000268	Dolichocephaly
ORPHA:44	PEX11B	8799	HP:0000518	Cataract
ORPHA:44	PEX11B	8799	HP:0007598	Bilateral single transverse palmar creases
ORPHA:44	PEX11B	8799	HP:0000431	Wide nasal bridge
ORPHA:44	PEX11B	8799	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:44	PEX11B	8799	HP:0004322	Short stature
ORPHA:44	PEX11B	8799	HP:0000463	Anteverted nares
ORPHA:44	PEX11B	8799	HP:0002376	Developmental regression
ORPHA:44	PEX11B	8799	HP:0007703	Abnormality of retinal pigmentation
ORPHA:44	PEX11B	8799	HP:0000508	Ptosis
ORPHA:44	PEX11B	8799	HP:0001252	Muscular hypotonia
ORPHA:44	PEX11B	8799	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:44	PEX11B	8799	HP:0100022	Abnormality of movement
ORPHA:44	PEX11B	8799	HP:0000648	Optic atrophy
ORPHA:44	PEX11B	8799	HP:0001392	Abnormality of the liver
ORPHA:44	PEX11B	8799	HP:0000174	Abnormality of the palate
ORPHA:44	PEX11B	8799	HP:0000256	Macrocephaly
ORPHA:44	PEX11B	8799	HP:0000486	Strabismus
ORPHA:44	PEX11B	8799	HP:0000348	High forehead
ORPHA:44	PEX11B	8799	HP:0000505	Visual impairment
ORPHA:44	PEX11B	8799	HP:0008207	Primary adrenal insufficiency
ORPHA:44	PEX11B	8799	HP:0002353	EEG abnormality
ORPHA:44	PEX11B	8799	HP:0001250	Seizures
ORPHA:44	PEX11B	8799	HP:0011344	Severe global developmental delay
ORPHA:44	PEX11B	8799	HP:0001347	Hyperreflexia
OMIM:250620	HIBCH	26275	HP:0001336	Myoclonus
OMIM:250620	HIBCH	26275	HP:0001274	Agenesis of corpus callosum
OMIM:250620	HIBCH	26275	HP:0003593	Infantile onset
OMIM:250620	HIBCH	26275	HP:0000286	Epicanthus
OMIM:250620	HIBCH	26275	HP:0001636	Tetralogy of Fallot
OMIM:250620	HIBCH	26275	HP:0000639	Nystagmus
OMIM:250620	HIBCH	26275	HP:0000486	Strabismus
OMIM:250620	HIBCH	26275	HP:0001310	Dysmetria
OMIM:250620	HIBCH	26275	HP:0011968	Feeding difficulties
OMIM:250620	HIBCH	26275	HP:0003355	Aminoaciduria
OMIM:250620	HIBCH	26275	HP:0003468	Abnormal vertebral morphology
OMIM:250620	HIBCH	26275	HP:0001332	Dystonia
OMIM:250620	HIBCH	26275	HP:0000007	Autosomal recessive inheritance
OMIM:250620	HIBCH	26275	HP:0001263	Global developmental delay
OMIM:250620	HIBCH	26275	HP:0002376	Developmental regression
OMIM:250620	HIBCH	26275	HP:0001290	Generalized hypotonia
OMIM:250620	HIBCH	26275	HP:0001250	Seizures
OMIM:250620	HIBCH	26275	HP:0001999	Abnormal facial shape
OMIM:116860	KRIT1	889	HP:0000951	Abnormality of the skin
OMIM:116860	KRIT1	889	HP:0001425	Heterogeneous
OMIM:116860	KRIT1	889	HP:0003829	Incomplete penetrance
OMIM:116860	KRIT1	889	HP:0000006	Autosomal dominant inheritance
OMIM:116860	KRIT1	889	HP:0001250	Seizures
OMIM:116860	KRIT1	889	HP:0002170	Intracranial hemorrhage
OMIM:116860	KRIT1	889	HP:0006576	Hepatic vascular malformations
OMIM:116860	KRIT1	889	HP:0007797	Retinal vascular malformation
OMIM:116860	KRIT1	889	HP:0002315	Headache
OMIM:116860	KRIT1	889	HP:0003011	Abnormality of the musculature
OMIM:116860	KRIT1	889	HP:0002514	Cerebral calcification
ORPHA:370927	SSR4	6748	HP:0002020	Gastroesophageal reflux
ORPHA:370927	SSR4	6748	HP:0001263	Global developmental delay
ORPHA:370927	SSR4	6748	HP:0001290	Generalized hypotonia
ORPHA:370927	SSR4	6748	HP:0001999	Abnormal facial shape
ORPHA:370927	SSR4	6748	HP:0000154	Wide mouth
ORPHA:370927	SSR4	6748	HP:0000490	Deeply set eye
ORPHA:370927	SSR4	6748	HP:0000400	Macrotia
ORPHA:370927	SSR4	6748	HP:0001250	Seizures
ORPHA:370927	SSR4	6748	HP:0001249	Intellectual disability
ORPHA:370927	SSR4	6748	HP:0002013	Vomiting
ORPHA:370927	SSR4	6748	HP:0000486	Strabismus
ORPHA:370927	SSR4	6748	HP:0000687	Widely spaced teeth
ORPHA:370927	SSR4	6748	HP:0001508	Failure to thrive
ORPHA:370927	SSR4	6748	HP:0011968	Feeding difficulties
ORPHA:370927	SSR4	6748	HP:0000252	Microcephaly
ORPHA:370927	SSR4	6748	HP:0011339	Abnormality of upper lip vermillion
OMIM:106210	ELP4	26610	HP:0000609	Optic nerve hypoplasia
OMIM:106210	ELP4	26610	HP:0000518	Cataract
OMIM:106210	ELP4	26610	HP:0000526	Aniridia
OMIM:106210	ELP4	26610	HP:0007750	Hypoplasia of the fovea
OMIM:106210	ELP4	26610	HP:0000639	Nystagmus
OMIM:106210	ELP4	26610	HP:0002079	Hypoplasia of the corpus callosum
OMIM:106210	ELP4	26610	HP:0000006	Autosomal dominant inheritance
OMIM:106210	ELP4	26610	HP:0007759	Opacification of the corneal stroma
OMIM:106210	ELP4	26610	HP:0000501	Glaucoma
OMIM:106210	WT1	7490	HP:0000609	Optic nerve hypoplasia
OMIM:106210	WT1	7490	HP:0000518	Cataract
OMIM:106210	WT1	7490	HP:0000526	Aniridia
OMIM:106210	WT1	7490	HP:0007750	Hypoplasia of the fovea
OMIM:106210	WT1	7490	HP:0000639	Nystagmus
OMIM:106210	WT1	7490	HP:0002079	Hypoplasia of the corpus callosum
OMIM:106210	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:106210	WT1	7490	HP:0007759	Opacification of the corneal stroma
OMIM:106210	WT1	7490	HP:0000501	Glaucoma
OMIM:106210	PAX6	5080	HP:0000609	Optic nerve hypoplasia
OMIM:106210	PAX6	5080	HP:0000518	Cataract
OMIM:106210	PAX6	5080	HP:0000526	Aniridia
OMIM:106210	PAX6	5080	HP:0007750	Hypoplasia of the fovea
OMIM:106210	PAX6	5080	HP:0000639	Nystagmus
OMIM:106210	PAX6	5080	HP:0002079	Hypoplasia of the corpus callosum
OMIM:106210	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:106210	PAX6	5080	HP:0007759	Opacification of the corneal stroma
OMIM:106210	PAX6	5080	HP:0000501	Glaucoma
OMIM:300067	DCX	1641	HP:0001339	Lissencephaly
OMIM:300067	DCX	1641	HP:0001249	Intellectual disability
OMIM:300067	DCX	1641	HP:0000639	Nystagmus
OMIM:300067	DCX	1641	HP:0001522	Death in infancy
OMIM:300067	DCX	1641	HP:0001274	Agenesis of corpus callosum
OMIM:300067	DCX	1641	HP:0008897	Postnatal growth retardation
OMIM:300067	DCX	1641	HP:0008936	Muscular hypotonia of the trunk
OMIM:300067	DCX	1641	HP:0003593	Infantile onset
OMIM:300067	DCX	1641	HP:0000054	Micropenis
OMIM:300067	DCX	1641	HP:0001250	Seizures
OMIM:300067	DCX	1641	HP:0003829	Incomplete penetrance
OMIM:300067	DCX	1641	HP:0001270	Motor delay
OMIM:300067	DCX	1641	HP:0001417	X-linked inheritance
OMIM:300067	DCX	1641	HP:0001251	Ataxia
OMIM:300067	DCX	1641	HP:0001260	Dysarthria
OMIM:300067	DCX	1641	HP:0001302	Pachygyria
OMIM:608265	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608265	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:257200	SMPD1	6609	HP:0002207	Diffuse reticular or finely nodular infiltrations
OMIM:257200	SMPD1	6609	HP:0001744	Splenomegaly
OMIM:257200	SMPD1	6609	HP:0002240	Hepatomegaly
OMIM:257200	SMPD1	6609	HP:0008872	Feeding difficulties in infancy
OMIM:257200	SMPD1	6609	HP:0001935	Microcytic anemia
OMIM:257200	SMPD1	6609	HP:0001982	Sea-blue histiocytosis
OMIM:257200	SMPD1	6609	HP:0002063	Rigidity
OMIM:257200	SMPD1	6609	HP:0006579	Prolonged neonatal jaundice
OMIM:257200	SMPD1	6609	HP:0000991	Xanthomatosis
OMIM:257200	SMPD1	6609	HP:0002019	Constipation
OMIM:257200	SMPD1	6609	HP:0004333	Bone-marrow foam cells
OMIM:257200	SMPD1	6609	HP:0003609	Foam cells with lamellar inclusion bodies
OMIM:257200	SMPD1	6609	HP:0004322	Short stature
OMIM:257200	SMPD1	6609	HP:0001290	Generalized hypotonia
OMIM:257200	SMPD1	6609	HP:0001538	Protuberant abdomen
OMIM:257200	SMPD1	6609	HP:0010729	Cherry red spot of the macula
OMIM:257200	SMPD1	6609	HP:0001257	Spasticity
OMIM:257200	SMPD1	6609	HP:0002716	Lymphadenopathy
OMIM:257200	SMPD1	6609	HP:0001263	Global developmental delay
OMIM:257200	SMPD1	6609	HP:0000007	Autosomal recessive inheritance
OMIM:257200	SMPD1	6609	HP:0003593	Infantile onset
OMIM:257200	SMPD1	6609	HP:0001249	Intellectual disability
OMIM:257200	SMPD1	6609	HP:0002013	Vomiting
OMIM:257200	SMPD1	6609	HP:0001265	Hyporeflexia
OMIM:257200	SMPD1	6609	HP:0001508	Failure to thrive
OMIM:257200	SMPD1	6609	HP:0000939	Osteoporosis
OMIM:257200	SMPD1	6609	HP:0002205	Recurrent respiratory infections
OMIM:257200	SMPD1	6609	HP:0001324	Muscle weakness
OMIM:257200	SMPD1	6609	HP:0002305	Athetosis
OMIM:201910	CYP21A2	1589	HP:0001943	Hypoglycemia
OMIM:201910	CYP21A2	1589	HP:0001945	Fever
OMIM:201910	CYP21A2	1589	HP:0000127	Renal salt wasting
OMIM:201910	CYP21A2	1589	HP:0001507	Growth abnormality
OMIM:201910	CYP21A2	1589	HP:0000822	Hypertension
OMIM:201910	CYP21A2	1589	HP:0000771	Gynecomastia
OMIM:201910	CYP21A2	1589	HP:0000840	Adrenogenital syndrome
OMIM:201910	CYP21A2	1589	HP:0000007	Autosomal recessive inheritance
OMIM:201910	CYP21A2	1589	HP:0000047	Hypospadias
OMIM:201910	CYP21A2	1589	HP:0000765	Abnormality of the thorax
OMIM:201910	CYP21A2	1589	HP:0008221	Adrenal hyperplasia
OMIM:253000	GALNS	2588	HP:0003521	Disproportionate short-trunk short stature
OMIM:253000	GALNS	2588	HP:0000939	Osteoporosis
OMIM:253000	GALNS	2588	HP:0007759	Opacification of the corneal stroma
OMIM:253000	GALNS	2588	HP:0003300	Ovoid vertebral bodies
OMIM:253000	GALNS	2588	HP:0012069	Keratan sulfate excretion in urine
OMIM:253000	GALNS	2588	HP:0002673	Coxa valga
OMIM:253000	GALNS	2588	HP:0002650	Scoliosis
OMIM:253000	GALNS	2588	HP:0001654	Abnormality of the heart valves
OMIM:253000	GALNS	2588	HP:0002091	Restrictive ventilatory defect
OMIM:253000	GALNS	2588	HP:0003016	Metaphyseal widening
OMIM:253000	GALNS	2588	HP:0012070	Chondroitin sulfate excretion in urine
OMIM:253000	GALNS	2588	HP:0000683	Grayish enamel
OMIM:253000	GALNS	2588	HP:0002240	Hepatomegaly
OMIM:253000	GALNS	2588	HP:0030865	Large elbow
OMIM:253000	GALNS	2588	HP:0000926	Platyspondyly
OMIM:253000	GALNS	2588	HP:0000904	Flaring of rib cage
OMIM:253000	GALNS	2588	HP:0000365	Hearing impairment
OMIM:253000	GALNS	2588	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253000	GALNS	2588	HP:0003053	Epiphyseal deformities of tubular bones
OMIM:253000	GALNS	2588	HP:0000303	Mandibular prognathia
OMIM:253000	GALNS	2588	HP:0003049	Ulnar deviation of the wrist
OMIM:253000	GALNS	2588	HP:0000884	Prominent sternum
OMIM:253000	GALNS	2588	HP:0003311	Hypoplasia of the odontoid process
OMIM:253000	GALNS	2588	HP:0003308	Cervical subluxation
OMIM:253000	GALNS	2588	HP:0002857	Genu valgum
OMIM:253000	GALNS	2588	HP:0000687	Widely spaced teeth
OMIM:253000	GALNS	2588	HP:0001388	Joint laxity
OMIM:253000	GALNS	2588	HP:0000023	Inguinal hernia
OMIM:253000	GALNS	2588	HP:0000670	Carious teeth
OMIM:253000	GALNS	2588	HP:0002808	Kyphosis
OMIM:253000	GALNS	2588	HP:0000007	Autosomal recessive inheritance
OMIM:253000	GALNS	2588	HP:0001223	Pointed proximal second through fifth metacarpals
OMIM:253000	GALNS	2588	HP:0003307	Hyperlordosis
OMIM:253000	GALNS	2588	HP:0002318	Cervical myelopathy
OMIM:253000	GALNS	2588	HP:0003621	Juvenile onset
OMIM:253000	GALNS	2588	HP:0000154	Wide mouth
OMIM:253000	GALNS	2588	HP:0003277	Constricted iliac wings
OMIM:253000	GALNS	2588	HP:0000280	Coarse facial features
OMIM:165300	OPA3	80207	HP:0001337	Tremor
OMIM:165300	OPA3	80207	HP:0000648	Optic atrophy
OMIM:165300	OPA3	80207	HP:0000518	Cataract
OMIM:165300	OPA3	80207	HP:0007663	Reduced visual acuity
OMIM:165300	OPA3	80207	HP:0000505	Visual impairment
OMIM:165300	OPA3	80207	HP:0000006	Autosomal dominant inheritance
OMIM:165300	OPA3	80207	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:617323	IMPA1	3612	HP:0001249	Intellectual disability
OMIM:617323	IMPA1	3612	HP:0000007	Autosomal recessive inheritance
OMIM:617323	IMPA1	3612	HP:0011999	Paranoia
OMIM:617323	IMPA1	3612	HP:0000718	Aggressive behavior
ORPHA:2382	GABRB3	2562	HP:0000718	Aggressive behavior
ORPHA:2382	GABRB3	2562	HP:0000729	Autistic behavior
ORPHA:2382	GABRB3	2562	HP:0001249	Intellectual disability
ORPHA:2382	GABRB3	2562	HP:0012075	Personality disorder
ORPHA:2382	GABRB3	2562	HP:0000752	Hyperactivity
ORPHA:2382	GABRB3	2562	HP:0001336	Myoclonus
ORPHA:2382	GABRB3	2562	HP:0001268	Mental deterioration
ORPHA:2382	GABRB3	2562	HP:0010818	Generalized tonic seizures
ORPHA:2382	GABRB3	2562	HP:0011195	EEG with focal sharp slow waves
ORPHA:2382	GABRB3	2562	HP:0001298	Encephalopathy
ORPHA:2382	GABRB3	2562	HP:0002069	Generalized tonic-clonic seizures
ORPHA:2382	GABRB3	2562	HP:0002527	Falls
ORPHA:2382	GABRB3	2562	HP:0007270	Atypical absence seizures
ORPHA:2382	GABRB3	2562	HP:0002363	Abnormality of brainstem morphology
ORPHA:2382	GABRB3	2562	HP:0010819	Atonic seizures
ORPHA:2382	MAPK10	5602	HP:0000718	Aggressive behavior
ORPHA:2382	MAPK10	5602	HP:0000729	Autistic behavior
ORPHA:2382	MAPK10	5602	HP:0001249	Intellectual disability
ORPHA:2382	MAPK10	5602	HP:0012075	Personality disorder
ORPHA:2382	MAPK10	5602	HP:0000752	Hyperactivity
ORPHA:2382	MAPK10	5602	HP:0001336	Myoclonus
ORPHA:2382	MAPK10	5602	HP:0001268	Mental deterioration
ORPHA:2382	MAPK10	5602	HP:0010818	Generalized tonic seizures
ORPHA:2382	MAPK10	5602	HP:0011195	EEG with focal sharp slow waves
ORPHA:2382	MAPK10	5602	HP:0001298	Encephalopathy
ORPHA:2382	MAPK10	5602	HP:0002069	Generalized tonic-clonic seizures
ORPHA:2382	MAPK10	5602	HP:0002527	Falls
ORPHA:2382	MAPK10	5602	HP:0007270	Atypical absence seizures
ORPHA:2382	MAPK10	5602	HP:0002363	Abnormality of brainstem morphology
ORPHA:2382	MAPK10	5602	HP:0010819	Atonic seizures
ORPHA:2382	CHD2	1106	HP:0000718	Aggressive behavior
ORPHA:2382	CHD2	1106	HP:0000729	Autistic behavior
ORPHA:2382	CHD2	1106	HP:0001249	Intellectual disability
ORPHA:2382	CHD2	1106	HP:0012075	Personality disorder
ORPHA:2382	CHD2	1106	HP:0000752	Hyperactivity
ORPHA:2382	CHD2	1106	HP:0001336	Myoclonus
ORPHA:2382	CHD2	1106	HP:0001268	Mental deterioration
ORPHA:2382	CHD2	1106	HP:0010818	Generalized tonic seizures
ORPHA:2382	CHD2	1106	HP:0011195	EEG with focal sharp slow waves
ORPHA:2382	CHD2	1106	HP:0001298	Encephalopathy
ORPHA:2382	CHD2	1106	HP:0002069	Generalized tonic-clonic seizures
ORPHA:2382	CHD2	1106	HP:0002527	Falls
ORPHA:2382	CHD2	1106	HP:0007270	Atypical absence seizures
ORPHA:2382	CHD2	1106	HP:0002363	Abnormality of brainstem morphology
ORPHA:2382	CHD2	1106	HP:0010819	Atonic seizures
ORPHA:2382	SCN1A	6323	HP:0000718	Aggressive behavior
ORPHA:2382	SCN1A	6323	HP:0000729	Autistic behavior
ORPHA:2382	SCN1A	6323	HP:0001249	Intellectual disability
ORPHA:2382	SCN1A	6323	HP:0012075	Personality disorder
ORPHA:2382	SCN1A	6323	HP:0000752	Hyperactivity
ORPHA:2382	SCN1A	6323	HP:0001336	Myoclonus
ORPHA:2382	SCN1A	6323	HP:0001268	Mental deterioration
ORPHA:2382	SCN1A	6323	HP:0010818	Generalized tonic seizures
ORPHA:2382	SCN1A	6323	HP:0011195	EEG with focal sharp slow waves
ORPHA:2382	SCN1A	6323	HP:0001298	Encephalopathy
ORPHA:2382	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
ORPHA:2382	SCN1A	6323	HP:0002527	Falls
ORPHA:2382	SCN1A	6323	HP:0007270	Atypical absence seizures
ORPHA:2382	SCN1A	6323	HP:0002363	Abnormality of brainstem morphology
ORPHA:2382	SCN1A	6323	HP:0010819	Atonic seizures
ORPHA:2382	DNM1	1759	HP:0000718	Aggressive behavior
ORPHA:2382	DNM1	1759	HP:0000729	Autistic behavior
ORPHA:2382	DNM1	1759	HP:0001249	Intellectual disability
ORPHA:2382	DNM1	1759	HP:0012075	Personality disorder
ORPHA:2382	DNM1	1759	HP:0000752	Hyperactivity
ORPHA:2382	DNM1	1759	HP:0001336	Myoclonus
ORPHA:2382	DNM1	1759	HP:0001268	Mental deterioration
ORPHA:2382	DNM1	1759	HP:0010818	Generalized tonic seizures
ORPHA:2382	DNM1	1759	HP:0011195	EEG with focal sharp slow waves
ORPHA:2382	DNM1	1759	HP:0001298	Encephalopathy
ORPHA:2382	DNM1	1759	HP:0002069	Generalized tonic-clonic seizures
ORPHA:2382	DNM1	1759	HP:0002527	Falls
ORPHA:2382	DNM1	1759	HP:0007270	Atypical absence seizures
ORPHA:2382	DNM1	1759	HP:0002363	Abnormality of brainstem morphology
ORPHA:2382	DNM1	1759	HP:0010819	Atonic seizures
OMIM:202200	MC2R	4158	HP:0001508	Failure to thrive
OMIM:202200	MC2R	4158	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	MC2R	4158	HP:0002719	Recurrent infections
OMIM:202200	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:202200	MC2R	4158	HP:0001250	Seizures
OMIM:202200	MC2R	4158	HP:0001259	Coma
OMIM:202200	MC2R	4158	HP:0001988	Recurrent hypoglycemia
OMIM:202200	MC2R	4158	HP:0005616	Accelerated skeletal maturation
OMIM:202200	MC2R	4158	HP:0003154	Increased circulating ACTH level
OMIM:202200	MC2R	4158	HP:0008163	Decreased circulating cortisol level
OMIM:202200	MC2R	4158	HP:0000098	Tall stature
OMIM:614399	MEGF10	84466	HP:0000007	Autosomal recessive inheritance
OMIM:614399	MEGF10	84466	HP:0000175	Cleft palate
OMIM:614399	MEGF10	84466	HP:0001558	Decreased fetal movement
OMIM:614399	MEGF10	84466	HP:0006597	Diaphragmatic paralysis
OMIM:614399	MEGF10	84466	HP:0001611	Nasal speech
OMIM:614399	MEGF10	84466	HP:0010628	Facial palsy
OMIM:614399	MEGF10	84466	HP:0001508	Failure to thrive
OMIM:614399	MEGF10	84466	HP:0002091	Restrictive ventilatory defect
OMIM:614399	MEGF10	84466	HP:0002015	Dysphagia
OMIM:614399	MEGF10	84466	HP:0001270	Motor delay
OMIM:614399	MEGF10	84466	HP:0003577	Congenital onset
OMIM:614399	MEGF10	84466	HP:0100490	Camptodactyly of finger
OMIM:614399	MEGF10	84466	HP:0002421	Poor head control
OMIM:614399	MEGF10	84466	HP:0003828	Variable expressivity
OMIM:614399	MEGF10	84466	HP:0001284	Areflexia
OMIM:614399	MEGF10	84466	HP:0000767	Pectus excavatum
OMIM:614399	MEGF10	84466	HP:0002878	Respiratory failure
OMIM:614399	MEGF10	84466	HP:0002650	Scoliosis
OMIM:614399	MEGF10	84466	HP:0001265	Hyporeflexia
OMIM:614399	MEGF10	84466	HP:0000218	High palate
OMIM:614399	MEGF10	84466	HP:0001319	Neonatal hypotonia
OMIM:614399	MEGF10	84466	HP:0001762	Talipes equinovarus
OMIM:614399	MEGF10	84466	HP:0002098	Respiratory distress
OMIM:614399	MEGF10	84466	HP:0009046	Difficulty running
OMIM:108300	COL2A1	1280	HP:0011800	Midface retrusion
OMIM:108300	COL2A1	1280	HP:0001634	Mitral valve prolapse
OMIM:108300	COL2A1	1280	HP:0004568	Beaking of vertebral bodies
OMIM:108300	COL2A1	1280	HP:0000175	Cleft palate
OMIM:108300	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:108300	COL2A1	1280	HP:0001166	Arachnodactyly
OMIM:108300	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:108300	COL2A1	1280	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:108300	COL2A1	1280	HP:0000201	Pierre-Robin sequence
OMIM:108300	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:108300	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:108300	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:108300	COL2A1	1280	HP:0003040	Arthropathy
OMIM:108300	COL2A1	1280	HP:0000501	Glaucoma
OMIM:108300	COL2A1	1280	HP:0000767	Pectus excavatum
OMIM:108300	COL2A1	1280	HP:0000463	Anteverted nares
OMIM:108300	COL2A1	1280	HP:0001519	Disproportionate tall stature
OMIM:108300	COL2A1	1280	HP:0002650	Scoliosis
OMIM:108300	COL2A1	1280	HP:0006361	Irregular femoral epiphysis
OMIM:108300	COL2A1	1280	HP:0000545	Myopia
OMIM:108300	COL2A1	1280	HP:0000618	Blindness
OMIM:108300	COL2A1	1280	HP:0000272	Malar flattening
OMIM:108300	COL2A1	1280	HP:0002808	Kyphosis
OMIM:606069	SLC40A1	30061	HP:0000518	Cataract
OMIM:606069	SLC40A1	30061	HP:0000802	Impotence
OMIM:606069	SLC40A1	30061	HP:0000833	Glucose intolerance
OMIM:606069	SLC40A1	30061	HP:0001638	Cardiomyopathy
OMIM:606069	SLC40A1	30061	HP:0002758	Osteoarthritis
OMIM:606069	SLC40A1	30061	HP:0012378	Fatigue
OMIM:606069	SLC40A1	30061	HP:0011675	Arrhythmia
OMIM:606069	SLC40A1	30061	HP:0003281	Increased serum ferritin
OMIM:606069	SLC40A1	30061	HP:0000006	Autosomal dominant inheritance
OMIM:606069	SLC40A1	30061	HP:0002829	Arthralgia
OMIM:610245	PDYN	5173	HP:0001272	Cerebellar atrophy
OMIM:610245	PDYN	5173	HP:0000006	Autosomal dominant inheritance
OMIM:610245	PDYN	5173	HP:0002529	Neuronal loss in central nervous system
OMIM:610245	PDYN	5173	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:610245	PDYN	5173	HP:0002070	Limb ataxia
OMIM:610245	PDYN	5173	HP:0003487	Babinski sign
OMIM:610245	PDYN	5173	HP:0001310	Dysmetria
OMIM:610245	PDYN	5173	HP:0001260	Dysarthria
OMIM:610245	PDYN	5173	HP:0007305	CNS demyelination
OMIM:610245	PDYN	5173	HP:0003677	Slow progression
OMIM:610245	PDYN	5173	HP:0000514	Slow saccadic eye movements
OMIM:610245	PDYN	5173	HP:0007141	Sensorimotor neuropathy
OMIM:610245	PDYN	5173	HP:0002066	Gait ataxia
OMIM:610245	PDYN	5173	HP:0001347	Hyperreflexia
OMIM:300755	BTK	695	HP:0000999	Pyoderma
OMIM:300755	BTK	695	HP:0002383	Encephalitis
OMIM:300755	BTK	695	HP:0002664	Neoplasm
OMIM:300755	BTK	695	HP:0002090	Pneumonia
OMIM:300755	BTK	695	HP:0000010	Recurrent urinary tract infections
OMIM:300755	BTK	695	HP:0001412	Enteroviral hepatitis
OMIM:300755	BTK	695	HP:0003095	Septic arthritis
OMIM:300755	BTK	695	HP:0000031	Epididymitis
OMIM:300755	BTK	695	HP:0000365	Hearing impairment
OMIM:300755	BTK	695	HP:0003729	Enteroviral dermatomyositis syndrome
OMIM:300755	BTK	695	HP:0001287	Meningitis
OMIM:300755	BTK	695	HP:0000024	Prostatitis
OMIM:300755	BTK	695	HP:0002732	Lymph node hypoplasia
OMIM:300755	BTK	695	HP:0000246	Sinusitis
OMIM:300755	BTK	695	HP:0000509	Conjunctivitis
OMIM:300755	BTK	695	HP:0000388	Otitis media
OMIM:300755	BTK	695	HP:0000750	Delayed speech and language development
OMIM:300755	BTK	695	HP:0004432	Agammaglobulinemia
OMIM:300755	BTK	695	HP:0001419	X-linked recessive inheritance
OMIM:300755	BTK	695	HP:0001648	Cor pulmonale
OMIM:300755	BTK	695	HP:0002014	Diarrhea
ORPHA:352530	TRAPPC9	83696	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:352530	TRAPPC9	83696	HP:0000248	Brachycephaly
ORPHA:352530	TRAPPC9	83696	HP:0001252	Muscular hypotonia
ORPHA:352530	TRAPPC9	83696	HP:0002047	Malignant hyperthermia
ORPHA:352530	TRAPPC9	83696	HP:0000341	Narrow forehead
ORPHA:352530	TRAPPC9	83696	HP:0000219	Thin upper lip vermilion
ORPHA:352530	TRAPPC9	83696	HP:0007052	Multifocal cerebral white matter abnormalities
ORPHA:352530	TRAPPC9	83696	HP:0001513	Obesity
ORPHA:352530	TRAPPC9	83696	HP:0000252	Microcephaly
ORPHA:352530	TRAPPC9	83696	HP:0002123	Generalized myoclonic seizures
ORPHA:352530	TRAPPC9	83696	HP:0000286	Epicanthus
ORPHA:352530	TRAPPC9	83696	HP:0000851	Congenital hypothyroidism
ORPHA:352530	TRAPPC9	83696	HP:0004209	Clinodactyly of the 5th finger
ORPHA:352530	TRAPPC9	83696	HP:0007642	Congenital stationary night blindness
ORPHA:352530	TRAPPC9	83696	HP:0001263	Global developmental delay
ORPHA:352530	TRAPPC9	83696	HP:0001182	Tapered finger
ORPHA:352530	TRAPPC9	83696	HP:0011228	Horizontal eyebrow
ORPHA:352530	TRAPPC9	83696	HP:0010864	Intellectual disability, severe
ORPHA:352530	TRAPPC9	83696	HP:0000311	Round face
ORPHA:352530	TRAPPC9	83696	HP:0002714	Downturned corners of mouth
ORPHA:352530	TRAPPC9	83696	HP:0000316	Hypertelorism
ORPHA:352530	TRAPPC9	83696	HP:0001321	Cerebellar hypoplasia
ORPHA:352530	TRAPPC9	83696	HP:0002265	Large fleshy ears
ORPHA:352530	TRAPPC9	83696	HP:0000431	Wide nasal bridge
ORPHA:352530	TRAPPC9	83696	HP:0000664	Synophrys
ORPHA:352530	TRAPPC9	83696	HP:0002120	Cerebral cortical atrophy
ORPHA:352530	TRAPPC9	83696	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614561	SNORD118	727676	HP:0002415	Leukodystrophy
OMIM:614561	SNORD118	727676	HP:0001250	Seizures
OMIM:614561	SNORD118	727676	HP:0001251	Ataxia
OMIM:614561	SNORD118	727676	HP:0001257	Spasticity
OMIM:614561	SNORD118	727676	HP:0003676	Progressive
OMIM:614561	SNORD118	727676	HP:0003828	Variable expressivity
OMIM:614561	SNORD118	727676	HP:0007256	Abnormal pyramidal signs
OMIM:614561	SNORD118	727676	HP:0002352	Leukoencephalopathy
OMIM:614561	SNORD118	727676	HP:0000007	Autosomal recessive inheritance
OMIM:614561	SNORD118	727676	HP:0001268	Mental deterioration
OMIM:614561	SNORD118	727676	HP:0001332	Dystonia
OMIM:614561	SNORD118	727676	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:614561	SNORD118	727676	HP:0001263	Global developmental delay
OMIM:614561	SNORD118	727676	HP:0001260	Dysarthria
OMIM:614561	SNORD118	727676	HP:0001288	Gait disturbance
OMIM:614561	SNORD118	727676	HP:0002514	Cerebral calcification
OMIM:614561	SNORD118	727676	HP:0001337	Tremor
OMIM:614561	SNORD118	727676	HP:0002301	Hemiplegia
OMIM:611544	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:611544	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:611544	CRYBB1	1414	HP:0000639	Nystagmus
OMIM:611544	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:611544	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:611544	CRYBB1	1414	HP:0010693	Pulverulent cataract
ORPHA:392	TBX5	6910	HP:0001387	Joint stiffness
ORPHA:392	TBX5	6910	HP:0001163	Abnormality of the metacarpal bones
ORPHA:392	TBX5	6910	HP:0001171	Split hand
ORPHA:392	TBX5	6910	HP:0001199	Triphalangeal thumb
ORPHA:392	TBX5	6910	HP:0001631	Atrial septal defect
ORPHA:392	TBX5	6910	HP:0002650	Scoliosis
ORPHA:392	TBX5	6910	HP:0000889	Abnormality of the clavicle
ORPHA:392	TBX5	6910	HP:0004757	Paroxysmal atrial fibrillation
ORPHA:392	TBX5	6910	HP:0009777	Absent thumb
ORPHA:392	TBX5	6910	HP:0011705	First degree atrioventricular block
ORPHA:392	TBX5	6910	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:392	TBX5	6910	HP:0001629	Ventricular septal defect
ORPHA:392	TBX5	6910	HP:0002808	Kyphosis
OMIM:613237	INF2	64423	HP:0000100	Nephrotic syndrome
OMIM:613237	INF2	64423	HP:0000097	Focal segmental glomerulosclerosis
ORPHA:98811	SLC2A1	6513	HP:0001266	Choreoathetosis
ORPHA:98811	SLC2A1	6513	HP:0002121	Absence seizures
ORPHA:98811	SLC2A1	6513	HP:0003401	Paresthesia
ORPHA:98811	SLC2A1	6513	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:98811	SLC2A1	6513	HP:0007166	Paroxysmal dyskinesia
ORPHA:98811	SLC2A1	6513	HP:0001304	Torsion dystonia
ORPHA:98811	PRRT2	112476	HP:0001266	Choreoathetosis
ORPHA:98811	PRRT2	112476	HP:0002121	Absence seizures
ORPHA:98811	PRRT2	112476	HP:0003401	Paresthesia
ORPHA:98811	PRRT2	112476	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:98811	PRRT2	112476	HP:0007166	Paroxysmal dyskinesia
ORPHA:98811	PRRT2	112476	HP:0001304	Torsion dystonia
OMIM:615744	GABRA1	2554	HP:0002121	Absence seizures
OMIM:615744	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:615744	GABRA1	2554	HP:0200134	Epileptic encephalopathy
OMIM:615744	GABRA1	2554	HP:0010819	Atonic seizures
OMIM:615744	GABRA1	2554	HP:0002133	Status epilepticus
OMIM:615744	GABRA1	2554	HP:0006813	Hemiclonic seizures
OMIM:615744	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:615744	GABRA1	2554	HP:0001249	Intellectual disability
OMIM:615744	GABRA1	2554	HP:0001263	Global developmental delay
OMIM:605670	C1QTNF5	114902	HP:0000510	Rod-cone dystrophy
OMIM:605670	C1QTNF5	114902	HP:0000006	Autosomal dominant inheritance
OMIM:605670	C1QTNF5	114902	HP:0000546	Retinal degeneration
OMIM:605670	C1QTNF5	114902	HP:0000575	Scotoma
OMIM:605670	C1QTNF5	114902	HP:0007830	Adult-onset night blindness
OMIM:605670	C1QTNF5	114902	HP:0000572	Visual loss
OMIM:601104	MAPT	4137	HP:0002185	Neurofibrillary tangles
OMIM:601104	MAPT	4137	HP:0002063	Rigidity
OMIM:601104	MAPT	4137	HP:0000741	Apathy
OMIM:601104	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:601104	MAPT	4137	HP:0002141	Gait imbalance
OMIM:601104	MAPT	4137	HP:0002544	Retrocollis
OMIM:601104	MAPT	4137	HP:0002067	Bradykinesia
OMIM:601104	MAPT	4137	HP:0002439	Frontolimbic dementia
OMIM:601104	MAPT	4137	HP:0000605	Supranuclear gaze palsy
OMIM:601104	MAPT	4137	HP:0000737	Irritability
OMIM:601104	MAPT	4137	HP:0001260	Dysarthria
OMIM:601104	MAPT	4137	HP:0002354	Memory impairment
OMIM:601104	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:601104	MAPT	4137	HP:0002528	Granulovacuolar degeneration
OMIM:601104	MAPT	4137	HP:0000658	Eyelid apraxia
OMIM:601104	MAPT	4137	HP:0002530	Axial dystonia
OMIM:601104	MAPT	4137	HP:0001425	Heterogeneous
OMIM:601104	MAPT	4137	HP:0001300	Parkinsonism
OMIM:601104	MAPT	4137	HP:0002171	Gliosis
OMIM:601104	MAPT	4137	HP:0000622	Blurred vision
OMIM:601104	MAPT	4137	HP:0002300	Mutism
OMIM:601104	MAPT	4137	HP:0002015	Dysphagia
OMIM:601104	MAPT	4137	HP:0002527	Falls
OMIM:601104	MAPT	4137	HP:0002304	Akinesia
OMIM:601104	MAPT	4137	HP:0000651	Diplopia
OMIM:601104	MAPT	4137	HP:0000613	Photophobia
OMIM:601104	MAPT	4137	HP:0003581	Adult onset
OMIM:615709	T	6862	HP:0000007	Autosomal recessive inheritance
OMIM:615709	T	6862	HP:0003468	Abnormal vertebral morphology
OMIM:615709	T	6862	HP:0003577	Congenital onset
ORPHA:2796	HPGD	3248	HP:0001376	Limitation of joint mobility
ORPHA:2796	HPGD	3248	HP:0001231	Abnormality of the fingernails
ORPHA:2796	HPGD	3248	HP:0002754	Osteomyelitis
ORPHA:2796	HPGD	3248	HP:0002829	Arthralgia
ORPHA:2796	HPGD	3248	HP:0000508	Ptosis
ORPHA:2796	HPGD	3248	HP:0000975	Hyperhidrosis
ORPHA:2796	HPGD	3248	HP:0001386	Joint swelling
ORPHA:2796	HPGD	3248	HP:0010541	Cutis gyrata of scalp
ORPHA:2796	HPGD	3248	HP:0003103	Abnormal cortical bone morphology
ORPHA:2796	HPGD	3248	HP:0000280	Coarse facial features
ORPHA:2796	HPGD	3248	HP:0001061	Acne
ORPHA:2796	HPGD	3248	HP:0001051	Seborrheic dermatitis
ORPHA:2796	HPGD	3248	HP:0002797	Osteolysis
ORPHA:2796	HPGD	3248	HP:0002653	Bone pain
ORPHA:2796	HPGD	3248	HP:0100760	Clubbing of toes
ORPHA:2796	HPGD	3248	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2796	HPGD	3248	HP:0001369	Arthritis
ORPHA:2796	HPGD	3248	HP:0011362	Abnormal hair quantity
ORPHA:2796	SLCO2A1	6578	HP:0001376	Limitation of joint mobility
ORPHA:2796	SLCO2A1	6578	HP:0001231	Abnormality of the fingernails
ORPHA:2796	SLCO2A1	6578	HP:0002754	Osteomyelitis
ORPHA:2796	SLCO2A1	6578	HP:0002829	Arthralgia
ORPHA:2796	SLCO2A1	6578	HP:0000508	Ptosis
ORPHA:2796	SLCO2A1	6578	HP:0000975	Hyperhidrosis
ORPHA:2796	SLCO2A1	6578	HP:0001386	Joint swelling
ORPHA:2796	SLCO2A1	6578	HP:0010541	Cutis gyrata of scalp
ORPHA:2796	SLCO2A1	6578	HP:0003103	Abnormal cortical bone morphology
ORPHA:2796	SLCO2A1	6578	HP:0000280	Coarse facial features
ORPHA:2796	SLCO2A1	6578	HP:0001061	Acne
ORPHA:2796	SLCO2A1	6578	HP:0001051	Seborrheic dermatitis
ORPHA:2796	SLCO2A1	6578	HP:0002797	Osteolysis
ORPHA:2796	SLCO2A1	6578	HP:0002653	Bone pain
ORPHA:2796	SLCO2A1	6578	HP:0100760	Clubbing of toes
ORPHA:2796	SLCO2A1	6578	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2796	SLCO2A1	6578	HP:0001369	Arthritis
ORPHA:2796	SLCO2A1	6578	HP:0011362	Abnormal hair quantity
OMIM:104100	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:104100	GJA1	2697	HP:0001596	Alopecia
OMIM:104100	GJA1	2697	HP:0000972	Palmoplantar hyperkeratosis
OMIM:104100	GJA1	2697	HP:0003593	Infantile onset
OMIM:104100	GJA1	2697	HP:0002164	Nail dysplasia
OMIM:104100	GJA1	2697	HP:0008391	Dystrophic fingernails
OMIM:225400	PLOD1	5351	HP:0000563	Keratoconus
OMIM:225400	PLOD1	5351	HP:0002093	Respiratory insufficiency
OMIM:225400	PLOD1	5351	HP:0005280	Depressed nasal bridge
OMIM:225400	PLOD1	5351	HP:0001763	Pes planus
OMIM:225400	PLOD1	5351	HP:0001388	Joint laxity
OMIM:225400	PLOD1	5351	HP:0000592	Blue sclerae
OMIM:225400	PLOD1	5351	HP:0007517	Palmoplantar cutis laxa
OMIM:225400	PLOD1	5351	HP:0000023	Inguinal hernia
OMIM:225400	PLOD1	5351	HP:0000501	Glaucoma
OMIM:225400	PLOD1	5351	HP:0000098	Tall stature
OMIM:225400	PLOD1	5351	HP:0000482	Microcornea
OMIM:225400	PLOD1	5351	HP:0000977	Soft skin
OMIM:225400	PLOD1	5351	HP:0001788	Premature rupture of membranes
OMIM:225400	PLOD1	5351	HP:0001635	Congestive heart failure
OMIM:225400	PLOD1	5351	HP:0000939	Osteoporosis
OMIM:225400	PLOD1	5351	HP:0001373	Joint dislocation
OMIM:225400	PLOD1	5351	HP:0001558	Decreased fetal movement
OMIM:225400	PLOD1	5351	HP:0002808	Kyphosis
OMIM:225400	PLOD1	5351	HP:0005952	Decreased pulmonary function
OMIM:225400	PLOD1	5351	HP:0000618	Blindness
OMIM:225400	PLOD1	5351	HP:0000993	Molluscoid pseudotumors
OMIM:225400	PLOD1	5351	HP:0000545	Myopia
OMIM:225400	PLOD1	5351	HP:0008458	Progressive congenital scoliosis
OMIM:225400	PLOD1	5351	HP:0000541	Retinal detachment
OMIM:225400	PLOD1	5351	HP:0006532	Recurrent pneumonia
OMIM:225400	PLOD1	5351	HP:0000974	Hyperextensible skin
OMIM:225400	PLOD1	5351	HP:0002239	Gastrointestinal hemorrhage
OMIM:225400	PLOD1	5351	HP:0000007	Autosomal recessive inheritance
OMIM:225400	PLOD1	5351	HP:0000963	Thin skin
OMIM:225400	PLOD1	5351	HP:0000678	Dental crowding
OMIM:225400	PLOD1	5351	HP:0001270	Motor delay
OMIM:225400	PLOD1	5351	HP:0000015	Bladder diverticulum
OMIM:225400	PLOD1	5351	HP:0001519	Disproportionate tall stature
OMIM:225400	PLOD1	5351	HP:0000978	Bruising susceptibility
OMIM:225400	PLOD1	5351	HP:0000286	Epicanthus
OMIM:225400	PLOD1	5351	HP:0001290	Generalized hypotonia
OMIM:225400	PLOD1	5351	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225400	PLOD1	5351	HP:0025019	Arterial rupture
OMIM:225400	PLOD1	5351	HP:0001166	Arachnodactyly
OMIM:225400	PLOD1	5351	HP:0001762	Talipes equinovarus
OMIM:233710	NCF2	4688	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	NCF2	4688	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	NCF2	4688	HP:0007417	Discoid lupus rash
OMIM:233710	NCF2	4688	HP:0002955	Granulomatosis
OMIM:233710	NCF2	4688	HP:0002840	Lymphadenitis
OMIM:233710	NCF2	4688	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	NCF2	4688	HP:0002716	Lymphadenopathy
OMIM:233710	NCF2	4688	HP:0000976	Eczematoid dermatitis
OMIM:233710	NCF2	4688	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	NCF2	4688	HP:0002754	Osteomyelitis
OMIM:233710	NCF2	4688	HP:0005224	Rectal abscess
OMIM:233710	NCF2	4688	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	NCF2	4688	HP:0002740	Recurrent E. coli infections
OMIM:233710	NCF2	4688	HP:0002240	Hepatomegaly
OMIM:233710	NCF2	4688	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	NCF2	4688	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	NCF2	4688	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:233710	NCF2	4688	HP:0006532	Recurrent pneumonia
OMIM:233710	NCF2	4688	HP:0003203	Negative nitroblue tetrazolium reduction test
OMIM:233710	NCF2	4688	HP:0100658	Cellulitis
OMIM:233710	NCF2	4688	HP:0100523	Liver abscess
OMIM:233710	NCF2	4688	HP:0001744	Splenomegaly
OMIM:233710	NCF2	4688	HP:0003621	Juvenile onset
OMIM:601665	MC4R	4160	HP:0010982	Polygenic inheritance
OMIM:601665	MC4R	4160	HP:0000007	Autosomal recessive inheritance
OMIM:601665	MC4R	4160	HP:0001513	Obesity
OMIM:601665	MC4R	4160	HP:0000006	Autosomal dominant inheritance
OMIM:601665	MC4R	4160	HP:0003812	Phenotypic variability
OMIM:601665	MC4R	4160	HP:0012340	Decreased resting energy expenditure
OMIM:601665	PPARG	5468	HP:0010982	Polygenic inheritance
OMIM:601665	PPARG	5468	HP:0000007	Autosomal recessive inheritance
OMIM:601665	PPARG	5468	HP:0001513	Obesity
OMIM:601665	PPARG	5468	HP:0000006	Autosomal dominant inheritance
OMIM:601665	PPARG	5468	HP:0003812	Phenotypic variability
OMIM:601665	PPARG	5468	HP:0012340	Decreased resting energy expenditure
OMIM:601665	SIM1	6492	HP:0010982	Polygenic inheritance
OMIM:601665	SIM1	6492	HP:0000007	Autosomal recessive inheritance
OMIM:601665	SIM1	6492	HP:0001513	Obesity
OMIM:601665	SIM1	6492	HP:0000006	Autosomal dominant inheritance
OMIM:601665	SIM1	6492	HP:0003812	Phenotypic variability
OMIM:601665	SIM1	6492	HP:0012340	Decreased resting energy expenditure
OMIM:601665	NR0B2	8431	HP:0010982	Polygenic inheritance
OMIM:601665	NR0B2	8431	HP:0000007	Autosomal recessive inheritance
OMIM:601665	NR0B2	8431	HP:0001513	Obesity
OMIM:601665	NR0B2	8431	HP:0000006	Autosomal dominant inheritance
OMIM:601665	NR0B2	8431	HP:0003812	Phenotypic variability
OMIM:601665	NR0B2	8431	HP:0012340	Decreased resting energy expenditure
OMIM:615860	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:615860	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:614164	GPX1	2876	HP:0000007	Autosomal recessive inheritance
OMIM:614164	GPX1	2876	HP:0003265	Neonatal hyperbilirubinemia
OMIM:614164	GPX1	2876	HP:0004863	Compensated hemolytic anemia
OMIM:617207	TBCE	6905	HP:0006829	Severe muscular hypotonia
OMIM:617207	TBCE	6905	HP:0001251	Ataxia
OMIM:617207	TBCE	6905	HP:0009027	Foot dorsiflexor weakness
OMIM:617207	TBCE	6905	HP:0000648	Optic atrophy
OMIM:617207	TBCE	6905	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617207	TBCE	6905	HP:0003593	Infantile onset
OMIM:617207	TBCE	6905	HP:0000007	Autosomal recessive inheritance
OMIM:617207	TBCE	6905	HP:0001260	Dysarthria
OMIM:617207	TBCE	6905	HP:0001272	Cerebellar atrophy
OMIM:617207	TBCE	6905	HP:0001249	Intellectual disability
OMIM:617207	TBCE	6905	HP:0003676	Progressive
OMIM:617207	TBCE	6905	HP:0002510	Spastic tetraplegia
OMIM:617207	TBCE	6905	HP:0002650	Scoliosis
OMIM:617207	TBCE	6905	HP:0001298	Encephalopathy
OMIM:617207	TBCE	6905	HP:0007269	Spinal muscular atrophy
OMIM:617207	TBCE	6905	HP:0001263	Global developmental delay
OMIM:617207	TBCE	6905	HP:0003477	Peripheral axonal neuropathy
OMIM:180100	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:180100	RP1	6101	HP:0000662	Nyctalopia
OMIM:180100	RP1	6101	HP:0000545	Myopia
OMIM:180100	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:180100	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:180100	RP1	6101	HP:0001425	Heterogeneous
OMIM:180100	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:607745	SCN2A	6326	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:607745	SCN2A	6326	HP:0002372	Normal interictal EEG
OMIM:607745	SCN2A	6326	HP:0007359	Focal seizures
OMIM:607745	SCN2A	6326	HP:0011146	Dialeptic seizures
OMIM:607745	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:607745	SCN2A	6326	HP:0000961	Cyanosis
OMIM:607745	SCN2A	6326	HP:0040168	Focal seizures, afebril
OMIM:613730	JAM3	83700	HP:0000007	Autosomal recessive inheritance
OMIM:613730	JAM3	83700	HP:0002240	Hepatomegaly
OMIM:613730	JAM3	83700	HP:0001250	Seizures
OMIM:613730	JAM3	83700	HP:0003577	Congenital onset
OMIM:613730	JAM3	83700	HP:0002119	Ventriculomegaly
OMIM:613730	JAM3	83700	HP:0000518	Cataract
OMIM:613730	JAM3	83700	HP:0001257	Spasticity
OMIM:613730	JAM3	83700	HP:0001347	Hyperreflexia
OMIM:613730	JAM3	83700	HP:0001263	Global developmental delay
OMIM:613730	JAM3	83700	HP:0005484	Postnatal microcephaly
OMIM:216820	SALL2	6297	HP:0000007	Autosomal recessive inheritance
OMIM:216820	SALL2	6297	HP:0000589	Coloboma
OMIM:216820	SALL2	6297	HP:0000505	Visual impairment
OMIM:216820	SALL2	6297	HP:0007663	Reduced visual acuity
OMIM:601200	DICER1	23405	HP:0100528	Pleuropulmonary blastoma
OMIM:601200	DICER1	23405	HP:0001472	Familial predisposition
OMIM:601200	DICER1	23405	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:601200	DICER1	23405	HP:0000006	Autosomal dominant inheritance
OMIM:601200	DICER1	23405	HP:0002859	Rhabdomyosarcoma
OMIM:601200	DICER1	23405	HP:0002885	Medulloblastoma
OMIM:617156	TFAM	7019	HP:0001541	Ascites
OMIM:617156	TFAM	7019	HP:0000007	Autosomal recessive inheritance
OMIM:617156	TFAM	7019	HP:0003577	Congenital onset
OMIM:617156	TFAM	7019	HP:0000952	Jaundice
OMIM:617156	TFAM	7019	HP:0001508	Failure to thrive
OMIM:617156	TFAM	7019	HP:0001943	Hypoglycemia
OMIM:617156	TFAM	7019	HP:0003676	Progressive
OMIM:617156	TFAM	7019	HP:0001394	Cirrhosis
OMIM:617156	TFAM	7019	HP:0002910	Elevated hepatic transaminases
OMIM:617156	TFAM	7019	HP:0001414	Microvesicular hepatic steatosis
OMIM:617156	TFAM	7019	HP:0001522	Death in infancy
OMIM:617156	TFAM	7019	HP:0001511	Intrauterine growth retardation
OMIM:617156	TFAM	7019	HP:0003256	Abnormality of the coagulation cascade
OMIM:617156	TFAM	7019	HP:0001399	Hepatic failure
OMIM:616722	MIR204	406987	HP:0001105	Retinal atrophy
OMIM:616722	MIR204	406987	HP:0000006	Autosomal dominant inheritance
OMIM:616722	MIR204	406987	HP:0007663	Reduced visual acuity
OMIM:616722	MIR204	406987	HP:0011484	Posterior synechiae of the anterior chamber
OMIM:608627	VAPB	9217	HP:0001260	Dysarthria
OMIM:608627	VAPB	9217	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	VAPB	9217	HP:0003323	Progressive muscle weakness
OMIM:608627	VAPB	9217	HP:0002174	Postural tremor
OMIM:608627	VAPB	9217	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:608627	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:608627	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	VAPB	9217	HP:0001284	Areflexia
OMIM:268150	RHAG	6005	HP:0000952	Jaundice
OMIM:268150	RHAG	6005	HP:0008282	Unconjugated hyperbilirubinemia
OMIM:268150	RHAG	6005	HP:0001878	Hemolytic anemia
OMIM:268150	RHAG	6005	HP:0004446	Stomatocytosis
OMIM:268150	RHAG	6005	HP:0005502	Increased red cell osmotic fragility
OMIM:268150	RHAG	6005	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PDE6B	5158	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613801	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TECR	9524	HP:0000750	Delayed speech and language development
OMIM:614020	TECR	9524	HP:0001249	Intellectual disability
OMIM:614020	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TECR	9524	HP:0000189	Narrow palate
ORPHA:300179	FKBP14	55033	HP:0000978	Bruising susceptibility
ORPHA:300179	FKBP14	55033	HP:0001763	Pes planus
ORPHA:300179	FKBP14	55033	HP:0002751	Kyphoscoliosis
ORPHA:300179	FKBP14	55033	HP:0002421	Poor head control
ORPHA:300179	FKBP14	55033	HP:0006829	Severe muscular hypotonia
ORPHA:300179	FKBP14	55033	HP:0000974	Hyperextensible skin
ORPHA:300179	FKBP14	55033	HP:0001382	Joint hypermobility
ORPHA:300179	FKBP14	55033	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:300179	FKBP14	55033	HP:0000545	Myopia
ORPHA:300179	FKBP14	55033	HP:0001075	Atrophic scars
ORPHA:300179	FKBP14	55033	HP:0003202	Skeletal muscle atrophy
ORPHA:300179	FKBP14	55033	HP:0001270	Motor delay
ORPHA:300179	FKBP14	55033	HP:0003198	Myopathy
ORPHA:300179	FKBP14	55033	HP:0000938	Osteopenia
ORPHA:300179	FKBP14	55033	HP:0100790	Hernia
ORPHA:300179	FKBP14	55033	HP:0000407	Sensorineural hearing impairment
ORPHA:300179	FKBP14	55033	HP:0007502	Follicular hyperkeratosis
ORPHA:300179	FKBP14	55033	HP:0003388	Easy fatigability
ORPHA:60040	PIK3CA	5290	HP:0005692	Joint hyperflexibility
ORPHA:60040	PIK3CA	5290	HP:0100761	Visceral angiomatosis
ORPHA:60040	PIK3CA	5290	HP:0001508	Failure to thrive
ORPHA:60040	PIK3CA	5290	HP:0000293	Full cheeks
ORPHA:60040	PIK3CA	5290	HP:0001249	Intellectual disability
ORPHA:60040	PIK3CA	5290	HP:0001770	Toe syndactyly
ORPHA:60040	PIK3CA	5290	HP:0002119	Ventriculomegaly
ORPHA:60040	PIK3CA	5290	HP:0006101	Finger syndactyly
ORPHA:60040	PIK3CA	5290	HP:0100555	Asymmetric growth
ORPHA:60040	PIK3CA	5290	HP:0000348	High forehead
ORPHA:60040	PIK3CA	5290	HP:0000965	Cutis marmorata
ORPHA:60040	PIK3CA	5290	HP:0001052	Nevus flammeus
ORPHA:60040	PIK3CA	5290	HP:0001829	Foot polydactyly
ORPHA:60040	PIK3CA	5290	HP:0001161	Hand polydactyly
ORPHA:60040	PIK3CA	5290	HP:0000324	Facial asymmetry
ORPHA:60040	PIK3CA	5290	HP:0100585	Telangiectasia of the skin
ORPHA:60040	PIK3CA	5290	HP:0001263	Global developmental delay
ORPHA:60040	PIK3CA	5290	HP:0001252	Muscular hypotonia
ORPHA:60040	PIK3CA	5290	HP:0001034	Hypermelanotic macule
ORPHA:60040	PIK3CA	5290	HP:0000256	Macrocephaly
ORPHA:60040	PIK3CA	5290	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:60040	PIK3CA	5290	HP:0000238	Hydrocephalus
ORPHA:60040	PIK3CA	5290	HP:0100026	Arteriovenous malformation
ORPHA:60040	PIK3CA	5290	HP:0002007	Frontal bossing
ORPHA:60040	PIK3CA	5290	HP:0000154	Wide mouth
ORPHA:79106	PTH1R	5745	HP:0001169	Broad palm
ORPHA:79106	PTH1R	5745	HP:0008800	Limited hip movement
ORPHA:79106	PTH1R	5745	HP:0010305	Absence of the sacrum
ORPHA:79106	PTH1R	5745	HP:0004279	Short palm
ORPHA:79106	PTH1R	5745	HP:0002656	Epiphyseal dysplasia
ORPHA:79106	PTH1R	5745	HP:0002967	Cubitus valgus
ORPHA:79106	PTH1R	5745	HP:0002753	Thin bony cortex
ORPHA:79106	PTH1R	5745	HP:0009803	Short phalanx of finger
ORPHA:79106	PTH1R	5745	HP:0003025	Metaphyseal irregularity
ORPHA:79106	PTH1R	5745	HP:0002829	Arthralgia
ORPHA:79106	PTH1R	5745	HP:0001831	Short toe
ORPHA:79106	PTH1R	5745	HP:0002663	Delayed epiphyseal ossification
ORPHA:79106	PTH1R	5745	HP:0001773	Short foot
ORPHA:79106	PTH1R	5745	HP:0003038	Fibular hypoplasia
ORPHA:79106	PTH1R	5745	HP:0006376	Limited elbow flexion
ORPHA:79106	PTH1R	5745	HP:0100671	Abnormal trabecular bone morphology
ORPHA:79106	PTH1R	5745	HP:0001769	Broad foot
ORPHA:79106	PTH1R	5745	HP:0001211	Abnormality of the fingertips
ORPHA:79106	PTH1R	5745	HP:0004322	Short stature
ORPHA:79106	PTH1R	5745	HP:0003170	Abnormality of the acetabulum
ORPHA:79106	PTH1R	5745	HP:0003275	Narrow pelvis bone
ORPHA:79106	PTH1R	5745	HP:0008808	High iliac wings
OMIM:602099	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:602099	SPG11	80208	HP:0002460	Distal muscle weakness
OMIM:602099	SPG11	80208	HP:0003677	Slow progression
OMIM:602099	SPG11	80208	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:602099	SPG11	80208	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	SPG11	80208	HP:0002380	Fasciculations
OMIM:602099	SPG11	80208	HP:0003487	Babinski sign
OMIM:602099	SPG11	80208	HP:0003621	Juvenile onset
OMIM:602099	SPG11	80208	HP:0001257	Spasticity
OMIM:602099	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:602099	SPG11	80208	HP:0001260	Dysarthria
OMIM:602099	SPG11	80208	HP:0002483	Bulbar signs
OMIM:602099	SPG11	80208	HP:0003693	Distal amyotrophy
OMIM:613353	SH3TC2	79628	HP:0001271	Polyneuropathy
OMIM:613353	SH3TC2	79628	HP:0009831	Mononeuropathy
OMIM:613353	SH3TC2	79628	HP:0012185	Constrictive median neuropathy
OMIM:613353	SH3TC2	79628	HP:0000006	Autosomal dominant inheritance
OMIM:613353	SH3TC2	79628	HP:0003477	Peripheral axonal neuropathy
OMIM:269500	SOST	50964	HP:0000431	Wide nasal bridge
OMIM:269500	SOST	50964	HP:0000316	Hypertelorism
OMIM:269500	SOST	50964	HP:0000639	Nystagmus
OMIM:269500	SOST	50964	HP:0001233	2-3 finger syndactyly
OMIM:269500	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:269500	SOST	50964	HP:0001133	Constriction of peripheral visual field
OMIM:269500	SOST	50964	HP:0002164	Nail dysplasia
OMIM:269500	SOST	50964	HP:0007285	Facial palsy secondary to cranial hyperostosis
OMIM:269500	SOST	50964	HP:0000572	Visual loss
OMIM:269500	SOST	50964	HP:0000648	Optic atrophy
OMIM:269500	SOST	50964	HP:0002007	Frontal bossing
OMIM:269500	SOST	50964	HP:0011800	Midface retrusion
OMIM:269500	SOST	50964	HP:0000916	Broad clavicles
OMIM:269500	SOST	50964	HP:0004576	Sclerotic vertebral endplates
OMIM:269500	SOST	50964	HP:0001699	Sudden death
OMIM:269500	SOST	50964	HP:0002516	Increased intracranial pressure
OMIM:269500	SOST	50964	HP:0100543	Cognitive impairment
OMIM:269500	SOST	50964	HP:0000303	Mandibular prognathia
OMIM:269500	SOST	50964	HP:0000520	Proptosis
OMIM:269500	SOST	50964	HP:0001474	Sclerotic scapulae
OMIM:269500	SOST	50964	HP:0000565	Esotropia
OMIM:269500	SOST	50964	HP:0000885	Broad ribs
OMIM:269500	SOST	50964	HP:0000272	Malar flattening
OMIM:269500	SOST	50964	HP:0000365	Hearing impairment
OMIM:269500	SOST	50964	HP:0004097	Deviation of finger
OMIM:269500	SOST	50964	HP:0000689	Dental malocclusion
OMIM:269500	SOST	50964	HP:0002315	Headache
OMIM:269500	SOST	50964	HP:0005280	Depressed nasal bridge
OMIM:269500	SOST	50964	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:269500	SOST	50964	HP:0001548	Overgrowth
OMIM:269500	SOST	50964	HP:0006415	Cortically dense long tubular bones
OMIM:605309	PTEN	5728	HP:0002007	Frontal bossing
OMIM:605309	PTEN	5728	HP:0000343	Long philtrum
OMIM:605309	PTEN	5728	HP:0003196	Short nose
OMIM:605309	PTEN	5728	HP:0005280	Depressed nasal bridge
OMIM:605309	PTEN	5728	HP:0005490	Postnatal macrocephaly
OMIM:605309	PTEN	5728	HP:0004422	Biparietal narrowing
OMIM:605309	PTEN	5728	HP:0001513	Obesity
OMIM:605309	PTEN	5728	HP:0000717	Autism
OMIM:605309	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:605309	PTEN	5728	HP:0000337	Broad forehead
OMIM:605309	PTEN	5728	HP:0001263	Global developmental delay
ORPHA:564	B9D1	27077	HP:0000482	Microcornea
ORPHA:564	B9D1	27077	HP:0001562	Oligohydramnios
ORPHA:564	B9D1	27077	HP:0000175	Cleft palate
ORPHA:564	B9D1	27077	HP:0000518	Cataract
ORPHA:564	B9D1	27077	HP:0001883	Talipes
ORPHA:564	B9D1	27077	HP:0000316	Hypertelorism
ORPHA:564	B9D1	27077	HP:0000252	Microcephaly
ORPHA:564	B9D1	27077	HP:0000347	Micrognathia
ORPHA:564	B9D1	27077	HP:0002084	Encephalocele
ORPHA:564	B9D1	27077	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	B9D1	27077	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	B9D1	27077	HP:0000647	Sclerocornea
ORPHA:564	B9D1	27077	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	B9D1	27077	HP:0000457	Depressed nasal ridge
ORPHA:564	B9D1	27077	HP:0001830	Postaxial foot polydactyly
ORPHA:564	B9D1	27077	HP:0000648	Optic atrophy
ORPHA:564	B9D1	27077	HP:0006870	Lobar holoprosencephaly
ORPHA:564	B9D1	27077	HP:0000568	Microphthalmia
ORPHA:564	B9D1	27077	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	B9D1	27077	HP:0000340	Sloping forehead
ORPHA:564	B9D1	27077	HP:0000532	Chorioretinal abnormality
ORPHA:564	B9D1	27077	HP:0001162	Postaxial hand polydactyly
ORPHA:564	B9D1	27077	HP:0000293	Full cheeks
ORPHA:564	B9D1	27077	HP:0000028	Cryptorchidism
ORPHA:564	RPGRIP1	57096	HP:0000482	Microcornea
ORPHA:564	RPGRIP1	57096	HP:0001562	Oligohydramnios
ORPHA:564	RPGRIP1	57096	HP:0000175	Cleft palate
ORPHA:564	RPGRIP1	57096	HP:0000518	Cataract
ORPHA:564	RPGRIP1	57096	HP:0001883	Talipes
ORPHA:564	RPGRIP1	57096	HP:0000316	Hypertelorism
ORPHA:564	RPGRIP1	57096	HP:0000252	Microcephaly
ORPHA:564	RPGRIP1	57096	HP:0000347	Micrognathia
ORPHA:564	RPGRIP1	57096	HP:0002084	Encephalocele
ORPHA:564	RPGRIP1	57096	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	RPGRIP1	57096	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	RPGRIP1	57096	HP:0000647	Sclerocornea
ORPHA:564	RPGRIP1	57096	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	RPGRIP1	57096	HP:0000457	Depressed nasal ridge
ORPHA:564	RPGRIP1	57096	HP:0001830	Postaxial foot polydactyly
ORPHA:564	RPGRIP1	57096	HP:0000648	Optic atrophy
ORPHA:564	RPGRIP1	57096	HP:0006870	Lobar holoprosencephaly
ORPHA:564	RPGRIP1	57096	HP:0000568	Microphthalmia
ORPHA:564	RPGRIP1	57096	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	RPGRIP1	57096	HP:0000340	Sloping forehead
ORPHA:564	RPGRIP1	57096	HP:0000532	Chorioretinal abnormality
ORPHA:564	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
ORPHA:564	RPGRIP1	57096	HP:0000293	Full cheeks
ORPHA:564	RPGRIP1	57096	HP:0000028	Cryptorchidism
ORPHA:564	CC2D2A	57545	HP:0000482	Microcornea
ORPHA:564	CC2D2A	57545	HP:0001562	Oligohydramnios
ORPHA:564	CC2D2A	57545	HP:0000175	Cleft palate
ORPHA:564	CC2D2A	57545	HP:0000518	Cataract
ORPHA:564	CC2D2A	57545	HP:0001883	Talipes
ORPHA:564	CC2D2A	57545	HP:0000316	Hypertelorism
ORPHA:564	CC2D2A	57545	HP:0000252	Microcephaly
ORPHA:564	CC2D2A	57545	HP:0000347	Micrognathia
ORPHA:564	CC2D2A	57545	HP:0002084	Encephalocele
ORPHA:564	CC2D2A	57545	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	CC2D2A	57545	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	CC2D2A	57545	HP:0000647	Sclerocornea
ORPHA:564	CC2D2A	57545	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	CC2D2A	57545	HP:0000457	Depressed nasal ridge
ORPHA:564	CC2D2A	57545	HP:0001830	Postaxial foot polydactyly
ORPHA:564	CC2D2A	57545	HP:0000648	Optic atrophy
ORPHA:564	CC2D2A	57545	HP:0006870	Lobar holoprosencephaly
ORPHA:564	CC2D2A	57545	HP:0000568	Microphthalmia
ORPHA:564	CC2D2A	57545	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	CC2D2A	57545	HP:0000340	Sloping forehead
ORPHA:564	CC2D2A	57545	HP:0000532	Chorioretinal abnormality
ORPHA:564	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
ORPHA:564	CC2D2A	57545	HP:0000293	Full cheeks
ORPHA:564	CC2D2A	57545	HP:0000028	Cryptorchidism
ORPHA:564	B9D2	80776	HP:0000482	Microcornea
ORPHA:564	B9D2	80776	HP:0001562	Oligohydramnios
ORPHA:564	B9D2	80776	HP:0000175	Cleft palate
ORPHA:564	B9D2	80776	HP:0000518	Cataract
ORPHA:564	B9D2	80776	HP:0001883	Talipes
ORPHA:564	B9D2	80776	HP:0000316	Hypertelorism
ORPHA:564	B9D2	80776	HP:0000252	Microcephaly
ORPHA:564	B9D2	80776	HP:0000347	Micrognathia
ORPHA:564	B9D2	80776	HP:0002084	Encephalocele
ORPHA:564	B9D2	80776	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	B9D2	80776	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	B9D2	80776	HP:0000647	Sclerocornea
ORPHA:564	B9D2	80776	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	B9D2	80776	HP:0000457	Depressed nasal ridge
ORPHA:564	B9D2	80776	HP:0001830	Postaxial foot polydactyly
ORPHA:564	B9D2	80776	HP:0000648	Optic atrophy
ORPHA:564	B9D2	80776	HP:0006870	Lobar holoprosencephaly
ORPHA:564	B9D2	80776	HP:0000568	Microphthalmia
ORPHA:564	B9D2	80776	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	B9D2	80776	HP:0000340	Sloping forehead
ORPHA:564	B9D2	80776	HP:0000532	Chorioretinal abnormality
ORPHA:564	B9D2	80776	HP:0001162	Postaxial hand polydactyly
ORPHA:564	B9D2	80776	HP:0000293	Full cheeks
ORPHA:564	B9D2	80776	HP:0000028	Cryptorchidism
ORPHA:564	CSPP1	79848	HP:0000482	Microcornea
ORPHA:564	CSPP1	79848	HP:0001562	Oligohydramnios
ORPHA:564	CSPP1	79848	HP:0000175	Cleft palate
ORPHA:564	CSPP1	79848	HP:0000518	Cataract
ORPHA:564	CSPP1	79848	HP:0001883	Talipes
ORPHA:564	CSPP1	79848	HP:0000316	Hypertelorism
ORPHA:564	CSPP1	79848	HP:0000252	Microcephaly
ORPHA:564	CSPP1	79848	HP:0000347	Micrognathia
ORPHA:564	CSPP1	79848	HP:0002084	Encephalocele
ORPHA:564	CSPP1	79848	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	CSPP1	79848	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	CSPP1	79848	HP:0000647	Sclerocornea
ORPHA:564	CSPP1	79848	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	CSPP1	79848	HP:0000457	Depressed nasal ridge
ORPHA:564	CSPP1	79848	HP:0001830	Postaxial foot polydactyly
ORPHA:564	CSPP1	79848	HP:0000648	Optic atrophy
ORPHA:564	CSPP1	79848	HP:0006870	Lobar holoprosencephaly
ORPHA:564	CSPP1	79848	HP:0000568	Microphthalmia
ORPHA:564	CSPP1	79848	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	CSPP1	79848	HP:0000340	Sloping forehead
ORPHA:564	CSPP1	79848	HP:0000532	Chorioretinal abnormality
ORPHA:564	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
ORPHA:564	CSPP1	79848	HP:0000293	Full cheeks
ORPHA:564	CSPP1	79848	HP:0000028	Cryptorchidism
ORPHA:564	TMEM67	91147	HP:0000482	Microcornea
ORPHA:564	TMEM67	91147	HP:0001562	Oligohydramnios
ORPHA:564	TMEM67	91147	HP:0000175	Cleft palate
ORPHA:564	TMEM67	91147	HP:0000518	Cataract
ORPHA:564	TMEM67	91147	HP:0001883	Talipes
ORPHA:564	TMEM67	91147	HP:0000316	Hypertelorism
ORPHA:564	TMEM67	91147	HP:0000252	Microcephaly
ORPHA:564	TMEM67	91147	HP:0000347	Micrognathia
ORPHA:564	TMEM67	91147	HP:0002084	Encephalocele
ORPHA:564	TMEM67	91147	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	TMEM67	91147	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	TMEM67	91147	HP:0000647	Sclerocornea
ORPHA:564	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	TMEM67	91147	HP:0000457	Depressed nasal ridge
ORPHA:564	TMEM67	91147	HP:0001830	Postaxial foot polydactyly
ORPHA:564	TMEM67	91147	HP:0000648	Optic atrophy
ORPHA:564	TMEM67	91147	HP:0006870	Lobar holoprosencephaly
ORPHA:564	TMEM67	91147	HP:0000568	Microphthalmia
ORPHA:564	TMEM67	91147	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	TMEM67	91147	HP:0000340	Sloping forehead
ORPHA:564	TMEM67	91147	HP:0000532	Chorioretinal abnormality
ORPHA:564	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
ORPHA:564	TMEM67	91147	HP:0000293	Full cheeks
ORPHA:564	TMEM67	91147	HP:0000028	Cryptorchidism
ORPHA:564	WDPCP	51057	HP:0000482	Microcornea
ORPHA:564	WDPCP	51057	HP:0001562	Oligohydramnios
ORPHA:564	WDPCP	51057	HP:0000175	Cleft palate
ORPHA:564	WDPCP	51057	HP:0000518	Cataract
ORPHA:564	WDPCP	51057	HP:0001883	Talipes
ORPHA:564	WDPCP	51057	HP:0000316	Hypertelorism
ORPHA:564	WDPCP	51057	HP:0000252	Microcephaly
ORPHA:564	WDPCP	51057	HP:0000347	Micrognathia
ORPHA:564	WDPCP	51057	HP:0002084	Encephalocele
ORPHA:564	WDPCP	51057	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	WDPCP	51057	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	WDPCP	51057	HP:0000647	Sclerocornea
ORPHA:564	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	WDPCP	51057	HP:0000457	Depressed nasal ridge
ORPHA:564	WDPCP	51057	HP:0001830	Postaxial foot polydactyly
ORPHA:564	WDPCP	51057	HP:0000648	Optic atrophy
ORPHA:564	WDPCP	51057	HP:0006870	Lobar holoprosencephaly
ORPHA:564	WDPCP	51057	HP:0000568	Microphthalmia
ORPHA:564	WDPCP	51057	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	WDPCP	51057	HP:0000340	Sloping forehead
ORPHA:564	WDPCP	51057	HP:0000532	Chorioretinal abnormality
ORPHA:564	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
ORPHA:564	WDPCP	51057	HP:0000293	Full cheeks
ORPHA:564	WDPCP	51057	HP:0000028	Cryptorchidism
ORPHA:564	MKS1	54903	HP:0000482	Microcornea
ORPHA:564	MKS1	54903	HP:0001562	Oligohydramnios
ORPHA:564	MKS1	54903	HP:0000175	Cleft palate
ORPHA:564	MKS1	54903	HP:0000518	Cataract
ORPHA:564	MKS1	54903	HP:0001883	Talipes
ORPHA:564	MKS1	54903	HP:0000316	Hypertelorism
ORPHA:564	MKS1	54903	HP:0000252	Microcephaly
ORPHA:564	MKS1	54903	HP:0000347	Micrognathia
ORPHA:564	MKS1	54903	HP:0002084	Encephalocele
ORPHA:564	MKS1	54903	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	MKS1	54903	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	MKS1	54903	HP:0000647	Sclerocornea
ORPHA:564	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	MKS1	54903	HP:0000457	Depressed nasal ridge
ORPHA:564	MKS1	54903	HP:0001830	Postaxial foot polydactyly
ORPHA:564	MKS1	54903	HP:0000648	Optic atrophy
ORPHA:564	MKS1	54903	HP:0006870	Lobar holoprosencephaly
ORPHA:564	MKS1	54903	HP:0000568	Microphthalmia
ORPHA:564	MKS1	54903	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	MKS1	54903	HP:0000340	Sloping forehead
ORPHA:564	MKS1	54903	HP:0000532	Chorioretinal abnormality
ORPHA:564	MKS1	54903	HP:0001162	Postaxial hand polydactyly
ORPHA:564	MKS1	54903	HP:0000293	Full cheeks
ORPHA:564	MKS1	54903	HP:0000028	Cryptorchidism
ORPHA:564	CEP290	80184	HP:0000482	Microcornea
ORPHA:564	CEP290	80184	HP:0001562	Oligohydramnios
ORPHA:564	CEP290	80184	HP:0000175	Cleft palate
ORPHA:564	CEP290	80184	HP:0000518	Cataract
ORPHA:564	CEP290	80184	HP:0001883	Talipes
ORPHA:564	CEP290	80184	HP:0000316	Hypertelorism
ORPHA:564	CEP290	80184	HP:0000252	Microcephaly
ORPHA:564	CEP290	80184	HP:0000347	Micrognathia
ORPHA:564	CEP290	80184	HP:0002084	Encephalocele
ORPHA:564	CEP290	80184	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	CEP290	80184	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	CEP290	80184	HP:0000647	Sclerocornea
ORPHA:564	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	CEP290	80184	HP:0000457	Depressed nasal ridge
ORPHA:564	CEP290	80184	HP:0001830	Postaxial foot polydactyly
ORPHA:564	CEP290	80184	HP:0000648	Optic atrophy
ORPHA:564	CEP290	80184	HP:0006870	Lobar holoprosencephaly
ORPHA:564	CEP290	80184	HP:0000568	Microphthalmia
ORPHA:564	CEP290	80184	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	CEP290	80184	HP:0000340	Sloping forehead
ORPHA:564	CEP290	80184	HP:0000532	Chorioretinal abnormality
ORPHA:564	CEP290	80184	HP:0001162	Postaxial hand polydactyly
ORPHA:564	CEP290	80184	HP:0000293	Full cheeks
ORPHA:564	CEP290	80184	HP:0000028	Cryptorchidism
ORPHA:564	RPGRIP1L	23322	HP:0000482	Microcornea
ORPHA:564	RPGRIP1L	23322	HP:0001562	Oligohydramnios
ORPHA:564	RPGRIP1L	23322	HP:0000175	Cleft palate
ORPHA:564	RPGRIP1L	23322	HP:0000518	Cataract
ORPHA:564	RPGRIP1L	23322	HP:0001883	Talipes
ORPHA:564	RPGRIP1L	23322	HP:0000316	Hypertelorism
ORPHA:564	RPGRIP1L	23322	HP:0000252	Microcephaly
ORPHA:564	RPGRIP1L	23322	HP:0000347	Micrognathia
ORPHA:564	RPGRIP1L	23322	HP:0002084	Encephalocele
ORPHA:564	RPGRIP1L	23322	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	RPGRIP1L	23322	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	RPGRIP1L	23322	HP:0000647	Sclerocornea
ORPHA:564	RPGRIP1L	23322	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	RPGRIP1L	23322	HP:0000457	Depressed nasal ridge
ORPHA:564	RPGRIP1L	23322	HP:0001830	Postaxial foot polydactyly
ORPHA:564	RPGRIP1L	23322	HP:0000648	Optic atrophy
ORPHA:564	RPGRIP1L	23322	HP:0006870	Lobar holoprosencephaly
ORPHA:564	RPGRIP1L	23322	HP:0000568	Microphthalmia
ORPHA:564	RPGRIP1L	23322	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	RPGRIP1L	23322	HP:0000340	Sloping forehead
ORPHA:564	RPGRIP1L	23322	HP:0000532	Chorioretinal abnormality
ORPHA:564	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
ORPHA:564	RPGRIP1L	23322	HP:0000293	Full cheeks
ORPHA:564	RPGRIP1L	23322	HP:0000028	Cryptorchidism
ORPHA:564	TCTN2	79867	HP:0000482	Microcornea
ORPHA:564	TCTN2	79867	HP:0001562	Oligohydramnios
ORPHA:564	TCTN2	79867	HP:0000175	Cleft palate
ORPHA:564	TCTN2	79867	HP:0000518	Cataract
ORPHA:564	TCTN2	79867	HP:0001883	Talipes
ORPHA:564	TCTN2	79867	HP:0000316	Hypertelorism
ORPHA:564	TCTN2	79867	HP:0000252	Microcephaly
ORPHA:564	TCTN2	79867	HP:0000347	Micrognathia
ORPHA:564	TCTN2	79867	HP:0002084	Encephalocele
ORPHA:564	TCTN2	79867	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	TCTN2	79867	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	TCTN2	79867	HP:0000647	Sclerocornea
ORPHA:564	TCTN2	79867	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	TCTN2	79867	HP:0000457	Depressed nasal ridge
ORPHA:564	TCTN2	79867	HP:0001830	Postaxial foot polydactyly
ORPHA:564	TCTN2	79867	HP:0000648	Optic atrophy
ORPHA:564	TCTN2	79867	HP:0006870	Lobar holoprosencephaly
ORPHA:564	TCTN2	79867	HP:0000568	Microphthalmia
ORPHA:564	TCTN2	79867	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	TCTN2	79867	HP:0000340	Sloping forehead
ORPHA:564	TCTN2	79867	HP:0000532	Chorioretinal abnormality
ORPHA:564	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
ORPHA:564	TCTN2	79867	HP:0000293	Full cheeks
ORPHA:564	TCTN2	79867	HP:0000028	Cryptorchidism
ORPHA:564	TMEM216	51259	HP:0000482	Microcornea
ORPHA:564	TMEM216	51259	HP:0001562	Oligohydramnios
ORPHA:564	TMEM216	51259	HP:0000175	Cleft palate
ORPHA:564	TMEM216	51259	HP:0000518	Cataract
ORPHA:564	TMEM216	51259	HP:0001883	Talipes
ORPHA:564	TMEM216	51259	HP:0000316	Hypertelorism
ORPHA:564	TMEM216	51259	HP:0000252	Microcephaly
ORPHA:564	TMEM216	51259	HP:0000347	Micrognathia
ORPHA:564	TMEM216	51259	HP:0002084	Encephalocele
ORPHA:564	TMEM216	51259	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	TMEM216	51259	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	TMEM216	51259	HP:0000647	Sclerocornea
ORPHA:564	TMEM216	51259	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	TMEM216	51259	HP:0000457	Depressed nasal ridge
ORPHA:564	TMEM216	51259	HP:0001830	Postaxial foot polydactyly
ORPHA:564	TMEM216	51259	HP:0000648	Optic atrophy
ORPHA:564	TMEM216	51259	HP:0006870	Lobar holoprosencephaly
ORPHA:564	TMEM216	51259	HP:0000568	Microphthalmia
ORPHA:564	TMEM216	51259	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	TMEM216	51259	HP:0000340	Sloping forehead
ORPHA:564	TMEM216	51259	HP:0000532	Chorioretinal abnormality
ORPHA:564	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
ORPHA:564	TMEM216	51259	HP:0000293	Full cheeks
ORPHA:564	TMEM216	51259	HP:0000028	Cryptorchidism
ORPHA:564	TMEM107	84314	HP:0000482	Microcornea
ORPHA:564	TMEM107	84314	HP:0001562	Oligohydramnios
ORPHA:564	TMEM107	84314	HP:0000175	Cleft palate
ORPHA:564	TMEM107	84314	HP:0000518	Cataract
ORPHA:564	TMEM107	84314	HP:0001883	Talipes
ORPHA:564	TMEM107	84314	HP:0000316	Hypertelorism
ORPHA:564	TMEM107	84314	HP:0000252	Microcephaly
ORPHA:564	TMEM107	84314	HP:0000347	Micrognathia
ORPHA:564	TMEM107	84314	HP:0002084	Encephalocele
ORPHA:564	TMEM107	84314	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	TMEM107	84314	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	TMEM107	84314	HP:0000647	Sclerocornea
ORPHA:564	TMEM107	84314	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	TMEM107	84314	HP:0000457	Depressed nasal ridge
ORPHA:564	TMEM107	84314	HP:0001830	Postaxial foot polydactyly
ORPHA:564	TMEM107	84314	HP:0000648	Optic atrophy
ORPHA:564	TMEM107	84314	HP:0006870	Lobar holoprosencephaly
ORPHA:564	TMEM107	84314	HP:0000568	Microphthalmia
ORPHA:564	TMEM107	84314	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	TMEM107	84314	HP:0000340	Sloping forehead
ORPHA:564	TMEM107	84314	HP:0000532	Chorioretinal abnormality
ORPHA:564	TMEM107	84314	HP:0001162	Postaxial hand polydactyly
ORPHA:564	TMEM107	84314	HP:0000293	Full cheeks
ORPHA:564	TMEM107	84314	HP:0000028	Cryptorchidism
ORPHA:564	TMEM231	79583	HP:0000482	Microcornea
ORPHA:564	TMEM231	79583	HP:0001562	Oligohydramnios
ORPHA:564	TMEM231	79583	HP:0000175	Cleft palate
ORPHA:564	TMEM231	79583	HP:0000518	Cataract
ORPHA:564	TMEM231	79583	HP:0001883	Talipes
ORPHA:564	TMEM231	79583	HP:0000316	Hypertelorism
ORPHA:564	TMEM231	79583	HP:0000252	Microcephaly
ORPHA:564	TMEM231	79583	HP:0000347	Micrognathia
ORPHA:564	TMEM231	79583	HP:0002084	Encephalocele
ORPHA:564	TMEM231	79583	HP:0002612	Congenital hepatic fibrosis
ORPHA:564	TMEM231	79583	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:564	TMEM231	79583	HP:0000647	Sclerocornea
ORPHA:564	TMEM231	79583	HP:0000003	Multicystic kidney dysplasia
ORPHA:564	TMEM231	79583	HP:0000457	Depressed nasal ridge
ORPHA:564	TMEM231	79583	HP:0001830	Postaxial foot polydactyly
ORPHA:564	TMEM231	79583	HP:0000648	Optic atrophy
ORPHA:564	TMEM231	79583	HP:0006870	Lobar holoprosencephaly
ORPHA:564	TMEM231	79583	HP:0000568	Microphthalmia
ORPHA:564	TMEM231	79583	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:564	TMEM231	79583	HP:0000340	Sloping forehead
ORPHA:564	TMEM231	79583	HP:0000532	Chorioretinal abnormality
ORPHA:564	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
ORPHA:564	TMEM231	79583	HP:0000293	Full cheeks
ORPHA:564	TMEM231	79583	HP:0000028	Cryptorchidism
ORPHA:2084	FBN1	2200	HP:0001083	Ectopia lentis
ORPHA:2084	FBN1	2200	HP:0004322	Short stature
ORPHA:2084	FBN1	2200	HP:0000501	Glaucoma
ORPHA:178377	LRP5	4041	HP:0001363	Craniosynostosis
ORPHA:178377	LRP5	4041	HP:0011001	Increased bone mineral density
ORPHA:178377	LRP5	4041	HP:0000256	Macrocephaly
ORPHA:178377	LRP5	4041	HP:0000337	Broad forehead
ORPHA:178377	LRP5	4041	HP:0000316	Hypertelorism
ORPHA:178377	LRP5	4041	HP:0000348	High forehead
ORPHA:178377	LRP5	4041	HP:0002684	Thickened calvaria
ORPHA:178377	LRP5	4041	HP:0000248	Brachycephaly
ORPHA:178377	LRP5	4041	HP:0012802	Broad jaw
OMIM:615911	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:615911	CHCHD10	400916	HP:0003676	Progressive
OMIM:615911	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:615911	CHCHD10	400916	HP:0003487	Babinski sign
OMIM:615911	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	CHCHD10	400916	HP:0000727	Frontal lobe dementia
OMIM:615911	CHCHD10	400916	HP:0001283	Bulbar palsy
OMIM:615911	CHCHD10	400916	HP:0001284	Areflexia
OMIM:615911	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:615911	CHCHD10	400916	HP:0002145	Frontotemporal dementia
OMIM:615911	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:615911	CHCHD10	400916	HP:0001251	Ataxia
OMIM:609529	TNFRSF13B	23495	HP:0002960	Autoimmunity
OMIM:609529	TNFRSF13B	23495	HP:0012140	Abnormality of cells of the lymphoid lineage
OMIM:609529	TNFRSF13B	23495	HP:0004798	Recurrent infection of the gastrointestinal tract
OMIM:609529	TNFRSF13B	23495	HP:0005425	Recurrent sinopulmonary infections
OMIM:609529	TNFRSF13B	23495	HP:0002720	IgA deficiency
OMIM:616345	IRF7	3665	HP:0002721	Immunodeficiency
OMIM:616345	IRF7	3665	HP:0000007	Autosomal recessive inheritance
ORPHA:97229	SLC52A2	79581	HP:0003690	Limb muscle weakness
ORPHA:97229	SLC52A2	79581	HP:0000508	Ptosis
ORPHA:97229	SLC52A2	79581	HP:0001265	Hyporeflexia
ORPHA:97229	SLC52A2	79581	HP:0002093	Respiratory insufficiency
ORPHA:97229	SLC52A2	79581	HP:0002015	Dysphagia
ORPHA:97229	SLC52A2	79581	HP:0001730	Progressive hearing impairment
ORPHA:97229	SLC52A2	79581	HP:0003202	Skeletal muscle atrophy
ORPHA:97229	SLC52A2	79581	HP:0001336	Myoclonus
ORPHA:97229	SLC52A2	79581	HP:0001260	Dysarthria
ORPHA:97229	SLC52A2	79581	HP:0001283	Bulbar palsy
ORPHA:97229	SLC52A2	79581	HP:0010628	Facial palsy
ORPHA:97229	SLC52A2	79581	HP:0001252	Muscular hypotonia
ORPHA:97229	SLC52A2	79581	HP:0000496	Abnormality of eye movement
ORPHA:97229	SLC52A3	113278	HP:0003690	Limb muscle weakness
ORPHA:97229	SLC52A3	113278	HP:0000508	Ptosis
ORPHA:97229	SLC52A3	113278	HP:0001265	Hyporeflexia
ORPHA:97229	SLC52A3	113278	HP:0002093	Respiratory insufficiency
ORPHA:97229	SLC52A3	113278	HP:0002015	Dysphagia
ORPHA:97229	SLC52A3	113278	HP:0001730	Progressive hearing impairment
ORPHA:97229	SLC52A3	113278	HP:0003202	Skeletal muscle atrophy
ORPHA:97229	SLC52A3	113278	HP:0001336	Myoclonus
ORPHA:97229	SLC52A3	113278	HP:0001260	Dysarthria
ORPHA:97229	SLC52A3	113278	HP:0001283	Bulbar palsy
ORPHA:97229	SLC52A3	113278	HP:0010628	Facial palsy
ORPHA:97229	SLC52A3	113278	HP:0001252	Muscular hypotonia
ORPHA:97229	SLC52A3	113278	HP:0000496	Abnormality of eye movement
OMIM:261515	HSD17B4	3295	HP:0008872	Feeding difficulties in infancy
OMIM:261515	HSD17B4	3295	HP:0007058	Generalized cerebral atrophy/hypoplasia
OMIM:261515	HSD17B4	3295	HP:0001762	Talipes equinovarus
OMIM:261515	HSD17B4	3295	HP:0002119	Ventriculomegaly
OMIM:261515	HSD17B4	3295	HP:0001250	Seizures
OMIM:261515	HSD17B4	3295	HP:0002832	Calcific stippling
OMIM:261515	HSD17B4	3295	HP:0007371	Corpus callosum atrophy
OMIM:261515	HSD17B4	3295	HP:0000218	High palate
OMIM:261515	HSD17B4	3295	HP:0001508	Failure to thrive
OMIM:261515	HSD17B4	3295	HP:0001408	Bile duct proliferation
OMIM:261515	HSD17B4	3295	HP:0000369	Low-set ears
OMIM:261515	HSD17B4	3295	HP:0030799	Scaphocephaly
OMIM:261515	HSD17B4	3295	HP:0002007	Frontal bossing
OMIM:261515	HSD17B4	3295	HP:0001765	Hammertoe
OMIM:261515	HSD17B4	3295	HP:0005280	Depressed nasal bridge
OMIM:261515	HSD17B4	3295	HP:0000347	Micrognathia
OMIM:261515	HSD17B4	3295	HP:0002240	Hepatomegaly
OMIM:261515	HSD17B4	3295	HP:0001561	Polyhydramnios
OMIM:261515	HSD17B4	3295	HP:0000256	Macrocephaly
OMIM:261515	HSD17B4	3295	HP:0001999	Abnormal facial shape
OMIM:261515	HSD17B4	3295	HP:0007266	Cerebral dysmyelination
OMIM:261515	HSD17B4	3295	HP:0001319	Neonatal hypotonia
OMIM:261515	HSD17B4	3295	HP:0002126	Polymicrogyria
OMIM:261515	HSD17B4	3295	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:261515	HSD17B4	3295	HP:0000505	Visual impairment
OMIM:261515	HSD17B4	3295	HP:0005257	Thoracic hypoplasia
OMIM:261515	HSD17B4	3295	HP:0008207	Primary adrenal insufficiency
OMIM:261515	HSD17B4	3295	HP:0001263	Global developmental delay
OMIM:261515	HSD17B4	3295	HP:0000639	Nystagmus
OMIM:261515	HSD17B4	3295	HP:0002910	Elevated hepatic transaminases
OMIM:261515	HSD17B4	3295	HP:0002171	Gliosis
OMIM:261515	HSD17B4	3295	HP:0000239	Large fontanelles
OMIM:261515	HSD17B4	3295	HP:0000486	Strabismus
OMIM:261515	HSD17B4	3295	HP:0000270	Delayed cranial suture closure
OMIM:261515	HSD17B4	3295	HP:0003199	Decreased muscle mass
OMIM:261515	HSD17B4	3295	HP:0002079	Hypoplasia of the corpus callosum
OMIM:261515	HSD17B4	3295	HP:0000582	Upslanted palpebral fissure
OMIM:261515	HSD17B4	3295	HP:0000316	Hypertelorism
OMIM:261515	HSD17B4	3295	HP:0000348	High forehead
OMIM:261515	HSD17B4	3295	HP:0001397	Hepatic steatosis
OMIM:261515	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:261515	HSD17B4	3295	HP:0000572	Visual loss
OMIM:261515	HSD17B4	3295	HP:0002750	Delayed skeletal maturation
OMIM:261515	HSD17B4	3295	HP:0000938	Osteopenia
OMIM:261515	HSD17B4	3295	HP:0000343	Long philtrum
OMIM:261515	HSD17B4	3295	HP:0000286	Epicanthus
OMIM:261515	HSD17B4	3295	HP:0000278	Retrognathia
OMIM:261515	HSD17B4	3295	HP:0001396	Cholestasis
OMIM:261515	HSD17B4	3295	HP:0000550	Undetectable electroretinogram
OMIM:261515	HSD17B4	3295	HP:0002539	Cortical dysplasia
OMIM:261515	HSD17B4	3295	HP:0003593	Infantile onset
OMIM:261515	HSD17B4	3295	HP:0001791	Fetal ascites
OMIM:261515	HSD17B4	3295	HP:0001171	Split hand
OMIM:261515	HSD17B4	3295	HP:0000767	Pectus excavatum
OMIM:261515	HSD17B4	3295	HP:0000107	Renal cyst
OMIM:608189	SPINK1	6690	HP:0006280	Chronic pancreatitis
OMIM:608189	SPINK1	6690	HP:0000006	Autosomal dominant inheritance
OMIM:608189	SPINK1	6690	HP:0005213	Pancreatic calcification
OMIM:608189	SPINK1	6690	HP:0000007	Autosomal recessive inheritance
OMIM:608189	SPINK1	6690	HP:0008205	Insulin-dependent but ketosis-resistant diabetes
OMIM:608189	SPINK1	6690	HP:0002027	Abdominal pain
OMIM:608189	SPINK1	6690	HP:0002894	Neoplasm of the pancreas
ORPHA:79474	LMNA	4000	HP:0001608	Abnormality of the voice
ORPHA:79474	LMNA	4000	HP:0005109	Abnormality of the Achilles tendon
ORPHA:79474	LMNA	4000	HP:0000135	Hypogonadism
ORPHA:79474	LMNA	4000	HP:0000546	Retinal degeneration
ORPHA:79474	LMNA	4000	HP:0004361	Abnormality of circulating leptin level
ORPHA:79474	LMNA	4000	HP:0001376	Limitation of joint mobility
ORPHA:79474	LMNA	4000	HP:0000144	Decreased fertility
ORPHA:79474	LMNA	4000	HP:0007618	Subcutaneous calcification
ORPHA:79474	LMNA	4000	HP:0008981	Calf muscle hypertrophy
ORPHA:79474	LMNA	4000	HP:0000233	Thin vermilion border
ORPHA:79474	LMNA	4000	HP:0000347	Micrognathia
ORPHA:79474	LMNA	4000	HP:0100615	Ovarian neoplasm
ORPHA:79474	LMNA	4000	HP:0001838	Rocker bottom foot
ORPHA:79474	LMNA	4000	HP:0003074	Hyperglycemia
ORPHA:79474	LMNA	4000	HP:0008283	Fasting hyperinsulinemia
ORPHA:79474	LMNA	4000	HP:0000823	Delayed puberty
ORPHA:79474	LMNA	4000	HP:0009771	Osteolytic defects of the phalanges of the hand
ORPHA:79474	LMNA	4000	HP:0004322	Short stature
ORPHA:79474	LMNA	4000	HP:0000275	Narrow face
ORPHA:79474	LMNA	4000	HP:0001763	Pes planus
ORPHA:79474	LMNA	4000	HP:0002669	Osteosarcoma
ORPHA:79474	LMNA	4000	HP:0001677	Coronary artery disease
ORPHA:79474	LMNA	4000	HP:0000822	Hypertension
ORPHA:79474	LMNA	4000	HP:0008419	Intervertebral disc degeneration
ORPHA:79474	LMNA	4000	HP:0002211	White forelock
ORPHA:79474	LMNA	4000	HP:0002216	Premature graying of hair
ORPHA:79474	LMNA	4000	HP:0000962	Hyperkeratosis
ORPHA:79474	LMNA	4000	HP:0000939	Osteoporosis
ORPHA:79474	LMNA	4000	HP:0008069	Neoplasm of the skin
ORPHA:79474	LMNA	4000	HP:0001015	Prominent superficial veins
ORPHA:79474	LMNA	4000	HP:0000035	Abnormality of the testis
ORPHA:79474	LMNA	4000	HP:0002858	Meningioma
ORPHA:79474	LMNA	4000	HP:0010721	Abnormal hair whorl
ORPHA:79474	LMNA	4000	HP:0000444	Convex nasal ridge
ORPHA:79474	LMNA	4000	HP:0001508	Failure to thrive
ORPHA:79474	LMNA	4000	HP:0005978	Type II diabetes mellitus
ORPHA:79474	LMNA	4000	HP:0008209	Premature ovarian insufficiency
ORPHA:79474	LMNA	4000	HP:0009064	Generalized lipodystrophy
ORPHA:79474	LMNA	4000	HP:0200042	Skin ulcer
ORPHA:79474	LMNA	4000	HP:0001808	Fragile nails
ORPHA:79474	LMNA	4000	HP:0009726	Renal neoplasm
ORPHA:79474	LMNA	4000	HP:0004380	Aortic valve calcification
ORPHA:79474	LMNA	4000	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:79474	LMNA	4000	HP:0100679	Lack of skin elasticity
ORPHA:79474	LMNA	4000	HP:0001650	Aortic valve stenosis
ORPHA:79474	LMNA	4000	HP:0001397	Hepatic steatosis
ORPHA:79474	LMNA	4000	HP:0001601	Laryngomalacia
ORPHA:79474	LMNA	4000	HP:0004414	Abnormality of the pulmonary artery
ORPHA:79474	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:79474	LMNA	4000	HP:0005177	Premature arteriosclerosis
ORPHA:79474	LMNA	4000	HP:0002155	Hypertriglyceridemia
ORPHA:79474	LMNA	4000	HP:0100585	Telangiectasia of the skin
ORPHA:79474	LMNA	4000	HP:0000963	Thin skin
ORPHA:79474	LMNA	4000	HP:0003777	Pili torti
ORPHA:79474	LMNA	4000	HP:0002231	Sparse body hair
ORPHA:79474	LMNA	4000	HP:0000934	Chondrocalcinosis
ORPHA:79474	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:79474	LMNA	4000	HP:0005328	Progeroid facial appearance
ORPHA:79474	LMNA	4000	HP:0007509	Patchy hypo- and hyperpigmentation
ORPHA:79474	LMNA	4000	HP:0100833	Neoplasm of the small intestine
ORPHA:79474	LMNA	4000	HP:0001635	Congestive heart failure
ORPHA:79474	LMNA	4000	HP:0000905	Progressive clavicular acroosteolysis
ORPHA:79474	LMNA	4000	HP:0003076	Glycosuria
ORPHA:79474	LMNA	4000	HP:0100031	Neoplasm of the thyroid gland
ORPHA:79474	LMNA	4000	HP:0001596	Alopecia
ORPHA:79474	LMNA	4000	HP:0100013	Neoplasm of the breast
ORPHA:79474	LMNA	4000	HP:0004279	Short palm
ORPHA:79474	LMNA	4000	HP:0007703	Abnormality of retinal pigmentation
ORPHA:79474	LMNA	4000	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:79474	LMNA	4000	HP:0004950	Peripheral arterial stenosis
ORPHA:79474	LMNA	4000	HP:0000869	Secondary amenorrhea
ORPHA:79474	LMNA	4000	HP:0003202	Skeletal muscle atrophy
ORPHA:79474	LMNA	4000	HP:0004054	Sclerosis of hand bone
ORPHA:79474	LMNA	4000	HP:0100526	Neoplasm of the lung
ORPHA:79474	LMNA	4000	HP:0100649	Neoplasm of the oral cavity
OMIM:613990	TINF2	26277	HP:0001596	Alopecia
OMIM:613990	TINF2	26277	HP:0000365	Hearing impairment
OMIM:613990	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:613990	TINF2	26277	HP:0000028	Cryptorchidism
OMIM:613990	TINF2	26277	HP:0004322	Short stature
OMIM:613990	TINF2	26277	HP:0001251	Ataxia
OMIM:613990	TINF2	26277	HP:0009926	Increased lacrimation
OMIM:613990	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:613990	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:613990	TINF2	26277	HP:0000750	Delayed speech and language development
OMIM:613990	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:613990	TINF2	26277	HP:0001882	Leukopenia
OMIM:613990	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:613990	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:613990	TINF2	26277	HP:0000939	Osteoporosis
OMIM:613990	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:613990	TINF2	26277	HP:0007427	Reticulated skin pigmentation
OMIM:613990	TINF2	26277	HP:0002514	Cerebral calcification
OMIM:613990	TINF2	26277	HP:0002745	Oral leukoplakia
OMIM:613990	TINF2	26277	HP:0000488	Retinopathy
OMIM:613990	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:613990	TINF2	26277	HP:0000252	Microcephaly
OMIM:613990	TINF2	26277	HP:0000958	Dry skin
OMIM:613990	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:614882	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX3	8504	HP:0011968	Feeding difficulties
OMIM:614882	PEX3	8504	HP:0000218	High palate
OMIM:614882	PEX3	8504	HP:0000337	Broad forehead
OMIM:614882	PEX3	8504	HP:0000348	High forehead
OMIM:614882	PEX3	8504	HP:0007930	Prominent epicanthal folds
OMIM:614882	PEX3	8504	HP:0001284	Areflexia
OMIM:614882	PEX3	8504	HP:0008935	Generalized neonatal hypotonia
OMIM:614882	PEX3	8504	HP:0001290	Generalized hypotonia
OMIM:614882	PEX3	8504	HP:0001522	Death in infancy
OMIM:614882	PEX3	8504	HP:0000494	Downslanted palpebral fissures
OMIM:614882	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX3	8504	HP:0011344	Severe global developmental delay
OMIM:614882	PEX3	8504	HP:0000316	Hypertelorism
OMIM:614882	PEX3	8504	HP:0001250	Seizures
OMIM:614882	PEX3	8504	HP:0001558	Decreased fetal movement
OMIM:614882	PEX3	8504	HP:0000347	Micrognathia
OMIM:614882	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614882	PEX3	8504	HP:0000448	Prominent nose
OMIM:136140	SRCAP	10847	HP:0004322	Short stature
OMIM:136140	SRCAP	10847	HP:0002750	Delayed skeletal maturation
OMIM:136140	SRCAP	10847	HP:0002474	Expressive language delay
OMIM:136140	SRCAP	10847	HP:0000358	Posteriorly rotated ears
OMIM:136140	SRCAP	10847	HP:0002162	Low posterior hairline
OMIM:136140	SRCAP	10847	HP:0004209	Clinodactyly of the 5th finger
OMIM:136140	SRCAP	10847	HP:0000490	Deeply set eye
OMIM:136140	SRCAP	10847	HP:0002714	Downturned corners of mouth
OMIM:136140	SRCAP	10847	HP:0000006	Autosomal dominant inheritance
OMIM:136140	SRCAP	10847	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:136140	SRCAP	10847	HP:0000325	Triangular face
OMIM:136140	SRCAP	10847	HP:0000448	Prominent nose
OMIM:136140	SRCAP	10847	HP:0000154	Wide mouth
OMIM:136140	SRCAP	10847	HP:0001007	Hirsutism
OMIM:136140	SRCAP	10847	HP:0000319	Smooth philtrum
OMIM:136140	SRCAP	10847	HP:0002608	Celiac disease
OMIM:136140	SRCAP	10847	HP:0001388	Joint laxity
OMIM:136140	SRCAP	10847	HP:0000470	Short neck
OMIM:136140	SRCAP	10847	HP:0000527	Long eyelashes
OMIM:136140	SRCAP	10847	HP:0000233	Thin vermilion border
OMIM:617166	FGF12	2257	HP:0001344	Absent speech
OMIM:617166	FGF12	2257	HP:0011968	Feeding difficulties
OMIM:617166	FGF12	2257	HP:0002376	Developmental regression
OMIM:617166	FGF12	2257	HP:0012450	Chronic constipation
OMIM:617166	FGF12	2257	HP:0000006	Autosomal dominant inheritance
OMIM:617166	FGF12	2257	HP:0002540	Inability to walk
OMIM:617166	FGF12	2257	HP:0003828	Variable expressivity
OMIM:617166	FGF12	2257	HP:0010841	Multifocal epileptiform discharges
OMIM:617166	FGF12	2257	HP:0001272	Cerebellar atrophy
OMIM:617166	FGF12	2257	HP:0002521	Hypsarrhythmia
OMIM:617166	FGF12	2257	HP:0008936	Muscular hypotonia of the trunk
OMIM:617166	FGF12	2257	HP:0002133	Status epilepticus
OMIM:617166	FGF12	2257	HP:0002465	Poor speech
OMIM:617166	FGF12	2257	HP:0200134	Epileptic encephalopathy
OMIM:617166	FGF12	2257	HP:0002070	Limb ataxia
OMIM:615969	AFP	174	HP:0000007	Autosomal recessive inheritance
OMIM:615969	AFP	174	HP:0045057	Decreased levels of alpha-fetoprotein
ORPHA:908	FMR1	2332	HP:0000276	Long face
ORPHA:908	FMR1	2332	HP:0001388	Joint laxity
ORPHA:908	FMR1	2332	HP:0000256	Macrocephaly
ORPHA:908	FMR1	2332	HP:0002007	Frontal bossing
ORPHA:908	FMR1	2332	HP:0002020	Gastroesophageal reflux
ORPHA:908	FMR1	2332	HP:0000389	Chronic otitis media
ORPHA:908	FMR1	2332	HP:0002003	Large forehead
ORPHA:908	FMR1	2332	HP:0000275	Narrow face
ORPHA:908	FMR1	2332	HP:0002342	Intellectual disability, moderate
ORPHA:908	FMR1	2332	HP:0002167	Neurological speech impairment
ORPHA:908	FMR1	2332	HP:0000246	Sinusitis
ORPHA:908	FMR1	2332	HP:0003564	Folate-dependent fragile site at Xq28
ORPHA:908	FMR1	2332	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:908	FMR1	2332	HP:0000411	Protruding ear
ORPHA:908	FMR1	2332	HP:0000303	Mandibular prognathia
ORPHA:908	FMR1	2332	HP:0001763	Pes planus
ORPHA:908	FMR1	2332	HP:0001252	Muscular hypotonia
ORPHA:908	FMR1	2332	HP:0000053	Macroorchidism
ORPHA:90673	TSHR	7253	HP:0002019	Constipation
ORPHA:90673	TSHR	7253	HP:0011968	Feeding difficulties
ORPHA:90673	TSHR	7253	HP:0001537	Umbilical hernia
ORPHA:90673	TSHR	7253	HP:0001615	Hoarse cry
ORPHA:90673	TSHR	7253	HP:0000952	Jaundice
ORPHA:90673	TSHR	7253	HP:0001252	Muscular hypotonia
ORPHA:90673	TSHR	7253	HP:0002360	Sleep disturbance
ORPHA:90673	TSHR	7253	HP:0003270	Abdominal distention
ORPHA:90673	TSHR	7253	HP:0000821	Hypothyroidism
ORPHA:90673	TSHR	7253	HP:0000239	Large fontanelles
ORPHA:90673	TSHR	7253	HP:0000958	Dry skin
ORPHA:90673	TSHR	7253	HP:0000158	Macroglossia
OMIM:616681	ANKLE2	23141	HP:0000028	Cryptorchidism
OMIM:616681	ANKLE2	23141	HP:0002510	Spastic tetraplegia
OMIM:616681	ANKLE2	23141	HP:0004325	Decreased body weight
OMIM:616681	ANKLE2	23141	HP:0000501	Glaucoma
OMIM:616681	ANKLE2	23141	HP:0001263	Global developmental delay
OMIM:616681	ANKLE2	23141	HP:0004322	Short stature
OMIM:616681	ANKLE2	23141	HP:0000347	Micrognathia
OMIM:616681	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:616681	ANKLE2	23141	HP:0001250	Seizures
OMIM:616681	ANKLE2	23141	HP:0000508	Ptosis
OMIM:616681	ANKLE2	23141	HP:0001274	Agenesis of corpus callosum
OMIM:616681	ANKLE2	23141	HP:0001181	Adducted thumb
OMIM:616681	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:616681	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:616681	ANKLE2	23141	HP:0000506	Telecanthus
OMIM:616681	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:616681	ANKLE2	23141	HP:0000194	Open mouth
OMIM:616681	ANKLE2	23141	HP:0006380	Knee flexion contracture
OMIM:130070	B4GALT7	11285	HP:0001388	Joint laxity
OMIM:130070	B4GALT7	11285	HP:0000387	Absent earlobe
OMIM:130070	B4GALT7	11285	HP:0005616	Accelerated skeletal maturation
OMIM:130070	B4GALT7	11285	HP:0000520	Proptosis
OMIM:130070	B4GALT7	11285	HP:0001166	Arachnodactyly
OMIM:130070	B4GALT7	11285	HP:0010511	Long toe
OMIM:130070	B4GALT7	11285	HP:0006487	Bowing of the long bones
OMIM:130070	B4GALT7	11285	HP:0000774	Narrow chest
OMIM:130070	B4GALT7	11285	HP:0011800	Midface retrusion
OMIM:130070	B4GALT7	11285	HP:0002974	Radioulnar synostosis
OMIM:130070	B4GALT7	11285	HP:0000256	Macrocephaly
OMIM:130070	B4GALT7	11285	HP:0007469	Palmoplantar cutis gyrata
OMIM:130070	B4GALT7	11285	HP:0001763	Pes planus
OMIM:130070	B4GALT7	11285	HP:0000160	Narrow mouth
OMIM:130070	B4GALT7	11285	HP:0000768	Pectus carinatum
OMIM:130070	B4GALT7	11285	HP:0011308	Slender toe
OMIM:130070	B4GALT7	11285	HP:0000369	Low-set ears
OMIM:130070	B4GALT7	11285	HP:0001075	Atrophic scars
OMIM:130070	B4GALT7	11285	HP:0002673	Coxa valga
OMIM:130070	B4GALT7	11285	HP:0000274	Small face
OMIM:130070	B4GALT7	11285	HP:0004322	Short stature
OMIM:130070	B4GALT7	11285	HP:0000431	Wide nasal bridge
OMIM:130070	B4GALT7	11285	HP:0001290	Generalized hypotonia
OMIM:130070	B4GALT7	11285	HP:0002209	Sparse scalp hair
OMIM:130070	B4GALT7	11285	HP:0000193	Bifid uvula
OMIM:130070	B4GALT7	11285	HP:0000938	Osteopenia
OMIM:130070	B4GALT7	11285	HP:0001508	Failure to thrive
OMIM:130070	B4GALT7	11285	HP:0000954	Single transverse palmar crease
OMIM:130070	B4GALT7	11285	HP:0000007	Autosomal recessive inheritance
OMIM:130070	B4GALT7	11285	HP:0000894	Short clavicles
ORPHA:98881	FGA	2243	HP:0000225	Gingival bleeding
ORPHA:98881	FGA	2243	HP:0004936	Venous thrombosis
ORPHA:98881	FGA	2243	HP:0000421	Epistaxis
ORPHA:98881	FGA	2243	HP:0002239	Gastrointestinal hemorrhage
ORPHA:98881	FGB	2244	HP:0000225	Gingival bleeding
ORPHA:98881	FGB	2244	HP:0004936	Venous thrombosis
ORPHA:98881	FGB	2244	HP:0000421	Epistaxis
ORPHA:98881	FGB	2244	HP:0002239	Gastrointestinal hemorrhage
ORPHA:98881	FGG	2266	HP:0000225	Gingival bleeding
ORPHA:98881	FGG	2266	HP:0004936	Venous thrombosis
ORPHA:98881	FGG	2266	HP:0000421	Epistaxis
ORPHA:98881	FGG	2266	HP:0002239	Gastrointestinal hemorrhage
OMIM:266265	SLC35C1	55343	HP:0000252	Microcephaly
OMIM:266265	SLC35C1	55343	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:266265	SLC35C1	55343	HP:0005400	Reduction of neutrophil motility
OMIM:266265	SLC35C1	55343	HP:0010864	Intellectual disability, severe
OMIM:266265	SLC35C1	55343	HP:0000414	Bulbous nose
OMIM:266265	SLC35C1	55343	HP:0000007	Autosomal recessive inheritance
OMIM:266265	SLC35C1	55343	HP:0001574	Abnormality of the integument
OMIM:266265	SLC35C1	55343	HP:0001290	Generalized hypotonia
OMIM:266265	SLC35C1	55343	HP:0002090	Pneumonia
OMIM:266265	SLC35C1	55343	HP:0000704	Periodontitis
OMIM:266265	SLC35C1	55343	HP:0002120	Cerebral cortical atrophy
OMIM:266265	SLC35C1	55343	HP:0006887	Intellectual disability, progressive
OMIM:221200	SLITRK6	84189	HP:0001249	Intellectual disability
OMIM:221200	SLITRK6	84189	HP:0011003	Severe Myopia
OMIM:221200	SLITRK6	84189	HP:0000405	Conductive hearing impairment
OMIM:221200	SLITRK6	84189	HP:0000093	Proteinuria
OMIM:221200	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:221200	SLITRK6	84189	HP:0000545	Myopia
OMIM:221200	SLITRK6	84189	HP:0000790	Hematuria
OMIM:612416	F11	2160	HP:0000006	Autosomal dominant inheritance
OMIM:612416	F11	2160	HP:0000007	Autosomal recessive inheritance
OMIM:612416	F11	2160	HP:0001892	Abnormal bleeding
OMIM:612416	F11	2160	HP:0001929	Reduced factor XI activity
OMIM:612416	F11	2160	HP:0003645	Prolonged partial thromboplastin time
OMIM:300143	IL1RAPL1	11141	HP:0000717	Autism
OMIM:300143	IL1RAPL1	11141	HP:0002342	Intellectual disability, moderate
OMIM:300143	IL1RAPL1	11141	HP:0000752	Hyperactivity
OMIM:300143	IL1RAPL1	11141	HP:0001382	Joint hypermobility
OMIM:300143	IL1RAPL1	11141	HP:0000194	Open mouth
OMIM:300143	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300143	IL1RAPL1	11141	HP:0003196	Short nose
OMIM:300143	IL1RAPL1	11141	HP:0000678	Dental crowding
OMIM:300143	IL1RAPL1	11141	HP:0000316	Hypertelorism
OMIM:300143	IL1RAPL1	11141	HP:0010804	Tented upper lip vermilion
OMIM:300143	IL1RAPL1	11141	HP:0000582	Upslanted palpebral fissure
OMIM:300143	IL1RAPL1	11141	HP:0000664	Synophrys
OMIM:300143	IL1RAPL1	11141	HP:0009909	Uplifted earlobe
OMIM:300143	IL1RAPL1	11141	HP:0000303	Mandibular prognathia
OMIM:613869	CRYAB	1410	HP:0002063	Rigidity
OMIM:613869	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:613869	CRYAB	1410	HP:0002104	Apnea
OMIM:613869	CRYAB	1410	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613869	CRYAB	1410	HP:0002878	Respiratory failure
OMIM:613869	CRYAB	1410	HP:0003678	Rapidly progressive
OMIM:613869	CRYAB	1410	HP:0001371	Flexion contracture
OMIM:613869	CRYAB	1410	HP:0001612	Weak cry
OMIM:613869	CRYAB	1410	HP:0003560	Muscular dystrophy
OMIM:614475	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:614475	GATA6	2627	HP:0001684	Secundum atrial septal defect
OMIM:242300	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:242300	TGM1	7051	HP:0001019	Erythroderma
OMIM:242300	TGM1	7051	HP:0000656	Ectropion
OMIM:242300	TGM1	7051	HP:0007549	Desquamation of skin soon after birth
OMIM:242300	TGM1	7051	HP:0000232	Everted lower lip vermilion
OMIM:242300	TGM1	7051	HP:0025092	Epidermal acanthosis
OMIM:242300	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:611182	COG8	84342	HP:0001298	Encephalopathy
OMIM:611182	COG8	84342	HP:0001252	Muscular hypotonia
OMIM:611182	COG8	84342	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611182	COG8	84342	HP:0000007	Autosomal recessive inheritance
OMIM:611182	COG8	84342	HP:0002119	Ventriculomegaly
OMIM:611182	COG8	84342	HP:0002133	Status epilepticus
OMIM:611182	COG8	84342	HP:0008150	Elevated serum transaminases during infections
OMIM:611182	COG8	84342	HP:0001137	Alternating esotropia
OMIM:611182	COG8	84342	HP:0001249	Intellectual disability
OMIM:611182	COG8	84342	HP:0001272	Cerebellar atrophy
OMIM:208530	GDF1	2657	HP:0001631	Atrial septal defect
OMIM:208530	GDF1	2657	HP:0001642	Pulmonic stenosis
OMIM:208530	GDF1	2657	HP:0000007	Autosomal recessive inheritance
OMIM:208530	GDF1	2657	HP:0001748	Polysplenia
OMIM:208530	GDF1	2657	HP:0002101	Abnormal lung lobation
OMIM:208530	GDF1	2657	HP:0001274	Agenesis of corpus callosum
OMIM:208530	GDF1	2657	HP:0001746	Asplenia
OMIM:208530	GDF1	2657	HP:0011565	Common atrium
OMIM:208530	GDF1	2657	HP:0011536	Right atrial isomerism
OMIM:208530	GDF1	2657	HP:0004935	Pulmonary artery atresia
OMIM:208530	GDF1	2657	HP:0001629	Ventricular septal defect
OMIM:208530	GDF1	2657	HP:0001696	Situs inversus totalis
OMIM:208530	GDF1	2657	HP:0001674	Complete atrioventricular canal defect
OMIM:208530	GDF1	2657	HP:0010772	Anomalous pulmonary venous return
OMIM:253250	TRIM37	4591	HP:0000325	Triangular face
OMIM:253250	TRIM37	4591	HP:0001260	Dysarthria
OMIM:253250	TRIM37	4591	HP:0005132	Pericardial constriction
OMIM:253250	TRIM37	4591	HP:0004322	Short stature
OMIM:253250	TRIM37	4591	HP:0000580	Pigmentary retinopathy
OMIM:253250	TRIM37	4591	HP:0001621	Weak voice
OMIM:253250	TRIM37	4591	HP:0000316	Hypertelorism
OMIM:253250	TRIM37	4591	HP:0002240	Hepatomegaly
OMIM:253250	TRIM37	4591	HP:0002680	J-shaped sella turcica
OMIM:253250	TRIM37	4591	HP:0002119	Ventriculomegaly
OMIM:253250	TRIM37	4591	HP:0003764	Nevus
OMIM:253250	TRIM37	4591	HP:0002667	Nephroblastoma
OMIM:253250	TRIM37	4591	HP:0000171	Microglossia
OMIM:253250	TRIM37	4591	HP:0001685	Myocardial fibrosis
OMIM:253250	TRIM37	4591	HP:0000678	Dental crowding
OMIM:253250	TRIM37	4591	HP:0000268	Dolichocephaly
OMIM:253250	TRIM37	4591	HP:0002688	Absent frontal sinuses
OMIM:253250	TRIM37	4591	HP:0002007	Frontal bossing
OMIM:253250	TRIM37	4591	HP:0000486	Strabismus
OMIM:253250	TRIM37	4591	HP:0001620	High pitched voice
OMIM:253250	TRIM37	4591	HP:0000007	Autosomal recessive inheritance
OMIM:253250	TRIM37	4591	HP:0000483	Astigmatism
OMIM:253250	TRIM37	4591	HP:0000431	Wide nasal bridge
OMIM:253250	TRIM37	4591	HP:0005280	Depressed nasal bridge
OMIM:253250	TRIM37	4591	HP:0001252	Muscular hypotonia
OMIM:253250	TRIM37	4591	HP:0002738	Hypoplastic frontal sinuses
OMIM:253250	TRIM37	4591	HP:0000668	Hypodontia
OMIM:253250	TRIM37	4591	HP:0001635	Congestive heart failure
OMIM:611890	GLE1	2733	HP:0000470	Short neck
OMIM:611890	GLE1	2733	HP:0003202	Skeletal muscle atrophy
OMIM:611890	GLE1	2733	HP:0007277	Paucity of anterior horn motor neurons
OMIM:611890	GLE1	2733	HP:0006802	Abnormal anterior horn cell morphology
OMIM:611890	GLE1	2733	HP:0000007	Autosomal recessive inheritance
OMIM:611890	GLE1	2733	HP:0001989	Fetal akinesia sequence
OMIM:611890	GLE1	2733	HP:0000369	Low-set ears
OMIM:611890	GLE1	2733	HP:0002804	Arthrogryposis multiplex congenita
OMIM:611890	GLE1	2733	HP:0003811	Neonatal death
OMIM:616421	SLC6A1	6529	HP:0000006	Autosomal dominant inheritance
OMIM:616421	SLC6A1	6529	HP:0025097	Eyelid myoclonus
OMIM:616421	SLC6A1	6529	HP:0001249	Intellectual disability
OMIM:616421	SLC6A1	6529	HP:0002121	Absence seizures
OMIM:616188	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:616188	TUB	7275	HP:0000545	Myopia
OMIM:616188	TUB	7275	HP:0000483	Astigmatism
OMIM:616188	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:616188	TUB	7275	HP:0000556	Retinal dystrophy
OMIM:616188	TUB	7275	HP:0000505	Visual impairment
OMIM:614923	BCKDK	10295	HP:0010892	Abnormality of branched chain family amino acid metabolism
OMIM:614923	BCKDK	10295	HP:0001250	Seizures
OMIM:614923	BCKDK	10295	HP:0000717	Autism
OMIM:614923	BCKDK	10295	HP:0001249	Intellectual disability
OMIM:261550	AMH	268	HP:0000007	Autosomal recessive inheritance
OMIM:261550	AMH	268	HP:0003251	Male infertility
OMIM:261550	AMH	268	HP:0000022	Abnormality of male internal genitalia
OMIM:261550	AMHR2	269	HP:0000007	Autosomal recessive inheritance
OMIM:261550	AMHR2	269	HP:0003251	Male infertility
OMIM:261550	AMHR2	269	HP:0000022	Abnormality of male internal genitalia
OMIM:612201	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:612201	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:616239	NARS2	79731	HP:0001257	Spasticity
OMIM:616239	NARS2	79731	HP:0000097	Focal segmental glomerulosclerosis
OMIM:616239	NARS2	79731	HP:0001274	Agenesis of corpus callosum
OMIM:616239	NARS2	79731	HP:0003198	Myopathy
OMIM:616239	NARS2	79731	HP:0003812	Phenotypic variability
OMIM:616239	NARS2	79731	HP:0000252	Microcephaly
OMIM:616239	NARS2	79731	HP:0100704	Cortical visual impairment
OMIM:616239	NARS2	79731	HP:0000648	Optic atrophy
OMIM:616239	NARS2	79731	HP:0003202	Skeletal muscle atrophy
OMIM:616239	NARS2	79731	HP:0000639	Nystagmus
OMIM:616239	NARS2	79731	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616239	NARS2	79731	HP:0000007	Autosomal recessive inheritance
OMIM:616239	NARS2	79731	HP:0011968	Feeding difficulties
OMIM:616239	NARS2	79731	HP:0002151	Increased serum lactate
OMIM:616239	NARS2	79731	HP:0001290	Generalized hypotonia
OMIM:616239	NARS2	79731	HP:0010628	Facial palsy
OMIM:616239	NARS2	79731	HP:0000508	Ptosis
OMIM:616239	NARS2	79731	HP:0002529	Neuronal loss in central nervous system
OMIM:616239	NARS2	79731	HP:0003701	Proximal muscle weakness
OMIM:616239	NARS2	79731	HP:0002180	Neurodegeneration
OMIM:616239	NARS2	79731	HP:0001252	Muscular hypotonia
OMIM:616239	NARS2	79731	HP:0002171	Gliosis
OMIM:234000	F12	2161	HP:0004841	Reduced factor XII activity
OMIM:234000	F12	2161	HP:0005542	Prolonged whole-blood clotting time
OMIM:234000	F12	2161	HP:0003645	Prolonged partial thromboplastin time
OMIM:234000	F12	2161	HP:0000007	Autosomal recessive inheritance
ORPHA:79330	MOGS	7841	HP:0001250	Seizures
ORPHA:79330	MOGS	7841	HP:0001399	Hepatic failure
ORPHA:79330	MOGS	7841	HP:0001508	Failure to thrive
OMIM:613308	RPS10	6204	HP:0001510	Growth delay
OMIM:613308	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:613308	RPS10	6204	HP:0100512	Vitamin D deficiency
OMIM:613308	RPS10	6204	HP:0001903	Anemia
OMIM:271980	ALDH5A1	7915	HP:0002133	Status epilepticus
OMIM:271980	ALDH5A1	7915	HP:0000750	Delayed speech and language development
OMIM:271980	ALDH5A1	7915	HP:0100716	Self-injurious behavior
OMIM:271980	ALDH5A1	7915	HP:0001290	Generalized hypotonia
OMIM:271980	ALDH5A1	7915	HP:0000739	Anxiety
OMIM:271980	ALDH5A1	7915	HP:0000709	Psychosis
OMIM:271980	ALDH5A1	7915	HP:0000738	Hallucinations
OMIM:271980	ALDH5A1	7915	HP:0001249	Intellectual disability
OMIM:271980	ALDH5A1	7915	HP:0002353	EEG abnormality
OMIM:271980	ALDH5A1	7915	HP:0001251	Ataxia
OMIM:271980	ALDH5A1	7915	HP:0000496	Abnormality of eye movement
OMIM:271980	ALDH5A1	7915	HP:0003593	Infantile onset
OMIM:271980	ALDH5A1	7915	HP:0002121	Absence seizures
OMIM:271980	ALDH5A1	7915	HP:0001270	Motor delay
OMIM:271980	ALDH5A1	7915	HP:0000717	Autism
OMIM:271980	ALDH5A1	7915	HP:0000752	Hyperactivity
OMIM:271980	ALDH5A1	7915	HP:0002487	Hyperkinesis
OMIM:271980	ALDH5A1	7915	HP:0000718	Aggressive behavior
OMIM:271980	ALDH5A1	7915	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:271980	ALDH5A1	7915	HP:0001263	Global developmental delay
OMIM:271980	ALDH5A1	7915	HP:0003812	Phenotypic variability
OMIM:271980	ALDH5A1	7915	HP:0002069	Generalized tonic-clonic seizures
OMIM:271980	ALDH5A1	7915	HP:0001265	Hyporeflexia
OMIM:271980	ALDH5A1	7915	HP:0000007	Autosomal recessive inheritance
OMIM:271980	ALDH5A1	7915	HP:0002123	Generalized myoclonic seizures
OMIM:257220	NPC1	4864	HP:0003349	Low cholesterol esterification rates
OMIM:257220	NPC1	4864	HP:0002529	Neuronal loss in central nervous system
OMIM:257220	NPC1	4864	HP:0003812	Phenotypic variability
OMIM:257220	NPC1	4864	HP:0001425	Heterogeneous
OMIM:257220	NPC1	4864	HP:0001791	Fetal ascites
OMIM:257220	NPC1	4864	HP:0001332	Dystonia
OMIM:257220	NPC1	4864	HP:0001249	Intellectual disability
OMIM:257220	NPC1	4864	HP:0001250	Seizures
OMIM:257220	NPC1	4864	HP:0001257	Spasticity
OMIM:257220	NPC1	4864	HP:0000709	Psychosis
OMIM:257220	NPC1	4864	HP:0001251	Ataxia
OMIM:257220	NPC1	4864	HP:0000007	Autosomal recessive inheritance
OMIM:257220	NPC1	4864	HP:0000511	Vertical supranuclear gaze palsy
OMIM:257220	NPC1	4864	HP:0002524	Cataplexy
OMIM:257220	NPC1	4864	HP:0006583	Fatal liver failure in infancy
OMIM:257220	NPC1	4864	HP:0003640	Foam cells in visceral organs and CNS
OMIM:257220	NPC1	4864	HP:0004333	Bone-marrow foam cells
OMIM:257220	NPC1	4864	HP:0001982	Sea-blue histiocytosis
OMIM:257220	NPC1	4864	HP:0001744	Splenomegaly
OMIM:257220	NPC1	4864	HP:0001290	Generalized hypotonia
OMIM:257220	NPC1	4864	HP:0002015	Dysphagia
OMIM:257220	NPC1	4864	HP:0001260	Dysarthria
OMIM:257220	NPC1	4864	HP:0002371	Loss of speech
OMIM:257220	NPC1	4864	HP:0003464	Abnormal cholesterol homeostasis
OMIM:257220	NPC1	4864	HP:0002185	Neurofibrillary tangles
OMIM:257220	NPC1	4864	HP:0003674	Onset
OMIM:257220	NPC1	4864	HP:0001263	Global developmental delay
OMIM:257220	NPC1	4864	HP:0000726	Dementia
OMIM:257220	NPC1	4864	HP:0002240	Hepatomegaly
OMIM:257220	NPC1	4864	HP:0006579	Prolonged neonatal jaundice
OMIM:604116	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	ABCA4	24	HP:0000572	Visual loss
OMIM:604116	ABCA4	24	HP:0000603	Central scotoma
OMIM:604116	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:617252	TCHH	7062	HP:0030056	Uncombable hair
OMIM:617252	TCHH	7062	HP:0000007	Autosomal recessive inheritance
OMIM:617252	TCHH	7062	HP:0002235	Pili canaliculi
OMIM:614321	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614321	CAV3	859	HP:0008981	Calf muscle hypertrophy
OMIM:614321	CAV3	859	HP:0001761	Pes cavus
OMIM:614321	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:616034	NADK2	133686	HP:0001250	Seizures
OMIM:616034	NADK2	133686	HP:0000252	Microcephaly
OMIM:616034	NADK2	133686	HP:0008315	Decreased plasma free carnitine
OMIM:616034	NADK2	133686	HP:0001332	Dystonia
OMIM:616034	NADK2	133686	HP:0001266	Choreoathetosis
OMIM:616034	NADK2	133686	HP:0002059	Cerebral atrophy
OMIM:616034	NADK2	133686	HP:0002161	Hyperlysinemia
OMIM:616034	NADK2	133686	HP:0001252	Muscular hypotonia
OMIM:616034	NADK2	133686	HP:0001263	Global developmental delay
OMIM:616034	NADK2	133686	HP:0002445	Tetraplegia
OMIM:616034	NADK2	133686	HP:0000007	Autosomal recessive inheritance
OMIM:616034	NADK2	133686	HP:0001298	Encephalopathy
OMIM:616034	NADK2	133686	HP:0001522	Death in infancy
OMIM:616034	NADK2	133686	HP:0100704	Cortical visual impairment
OMIM:616034	NADK2	133686	HP:0001319	Neonatal hypotonia
OMIM:616034	NADK2	133686	HP:0001508	Failure to thrive
OMIM:616034	NADK2	133686	HP:0002415	Leukodystrophy
OMIM:616034	NADK2	133686	HP:0000639	Nystagmus
OMIM:616034	NADK2	133686	HP:0001257	Spasticity
OMIM:616034	NADK2	133686	HP:0002119	Ventriculomegaly
OMIM:614837	KISS1R	84634	HP:0000013	Hypoplasia of the uterus
OMIM:614837	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614837	KISS1R	84634	HP:0002750	Delayed skeletal maturation
OMIM:614837	KISS1R	84634	HP:0000054	Micropenis
OMIM:614837	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:614837	KISS1R	84634	HP:0000027	Azoospermia
OMIM:614837	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614837	KISS1R	84634	HP:0000771	Gynecomastia
OMIM:614837	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	KISS1R	84634	HP:0000938	Osteopenia
OMIM:614837	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:616335	TUBGCP4	27229	HP:0007663	Reduced visual acuity
OMIM:616335	TUBGCP4	27229	HP:0000505	Visual impairment
OMIM:616335	TUBGCP4	27229	HP:0000007	Autosomal recessive inheritance
OMIM:616335	TUBGCP4	27229	HP:0000252	Microcephaly
OMIM:616335	TUBGCP4	27229	HP:0000639	Nystagmus
OMIM:616335	TUBGCP4	27229	HP:0003577	Congenital onset
OMIM:616335	TUBGCP4	27229	HP:0007731	Chorioretinal dysplasia
OMIM:616335	TUBGCP4	27229	HP:0000568	Microphthalmia
OMIM:616335	TUBGCP4	27229	HP:0001263	Global developmental delay
ORPHA:1349	TRNK	4566	HP:0001644	Dilated cardiomyopathy
ORPHA:1349	TRNK	4566	HP:0002094	Dyspnea
ORPHA:1349	TRNK	4566	HP:0000590	Progressive external ophthalmoplegia
ORPHA:1349	TRNK	4566	HP:0003542	Increased serum pyruvate
ORPHA:1349	TRNK	4566	HP:0001350	Slurred speech
ORPHA:1349	TRNK	4566	HP:0003546	Exercise intolerance
ORPHA:1349	TRNK	4566	HP:0002151	Increased serum lactate
ORPHA:1349	TRNK	4566	HP:0000407	Sensorineural hearing impairment
ORPHA:1349	TRNK	4566	HP:0012514	Lower limb pain
ORPHA:1349	TRNK	4566	HP:0001288	Gait disturbance
ORPHA:1349	TRNK	4566	HP:0001635	Congestive heart failure
ORPHA:1349	TRNK	4566	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:1349	TRNK	4566	HP:0003457	EMG abnormality
ORPHA:1349	TRNK	4566	HP:0001298	Encephalopathy
ORPHA:1349	TRNK	4566	HP:0003200	Ragged-red muscle fibers
ORPHA:1349	TRNK	4566	HP:0011342	Mild global developmental delay
ORPHA:1349	TRNK	4566	HP:0001268	Mental deterioration
ORPHA:1349	TRNK	4566	HP:0001324	Muscle weakness
ORPHA:1349	TRNK	4566	HP:0001251	Ataxia
OMIM:614129	CLPP	8192	HP:0000252	Microcephaly
OMIM:614129	CLPP	8192	HP:0000007	Autosomal recessive inheritance
OMIM:614129	CLPP	8192	HP:0000786	Primary amenorrhea
OMIM:614129	CLPP	8192	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	CLPP	8192	HP:0000407	Sensorineural hearing impairment
OMIM:614129	CLPP	8192	HP:0000013	Hypoplasia of the uterus
OMIM:614129	CLPP	8192	HP:0008527	Congenital sensorineural hearing impairment
OMIM:616636	STAT2	6773	HP:0000007	Autosomal recessive inheritance
OMIM:616636	STAT2	6773	HP:0003828	Variable expressivity
OMIM:204300	CLN6	54982	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:204300	CLN6	54982	HP:0003657	Granular osmiophilic deposits (GROD) in cells
OMIM:204300	CLN6	54982	HP:0002059	Cerebral atrophy
OMIM:204300	CLN6	54982	HP:0002352	Leukoencephalopathy
OMIM:204300	CLN6	54982	HP:0001251	Ataxia
OMIM:204300	CLN6	54982	HP:0003581	Adult onset
OMIM:204300	CLN6	54982	HP:0000007	Autosomal recessive inheritance
OMIM:204300	CLN6	54982	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
OMIM:204300	CLN6	54982	HP:0008765	Auditory hallucinations
OMIM:204300	CLN6	54982	HP:0000716	Depressivity
OMIM:204300	CLN6	54982	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:204300	CLN6	54982	HP:0001250	Seizures
OMIM:204300	CLN6	54982	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:204300	CLN6	54982	HP:0002367	Visual hallucinations
OMIM:204300	CLN6	54982	HP:0000726	Dementia
OMIM:204300	CLN6	54982	HP:0001336	Myoclonus
OMIM:204300	CLN6	54982	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:255100	FLAD1	80308	HP:0001992	Organic aciduria
OMIM:255100	FLAD1	80308	HP:0003546	Exercise intolerance
OMIM:255100	FLAD1	80308	HP:0001290	Generalized hypotonia
OMIM:255100	FLAD1	80308	HP:0012548	Fatty replacement of skeletal muscle
OMIM:255100	FLAD1	80308	HP:0000007	Autosomal recessive inheritance
OMIM:255100	FLAD1	80308	HP:0011968	Feeding difficulties
OMIM:255100	FLAD1	80308	HP:0003701	Proximal muscle weakness
OMIM:255100	FLAD1	80308	HP:0003198	Myopathy
OMIM:255100	FLAD1	80308	HP:0003812	Phenotypic variability
OMIM:255100	FLAD1	80308	HP:0002015	Dysphagia
OMIM:255100	FLAD1	80308	HP:0002093	Respiratory insufficiency
OMIM:163200	HRAS	3265	HP:0000589	Coloboma
OMIM:163200	HRAS	3265	HP:0002671	Basal cell carcinoma
OMIM:163200	HRAS	3265	HP:0001249	Intellectual disability
OMIM:163200	HRAS	3265	HP:0001442	Somatic mosaicism
OMIM:163200	HRAS	3265	HP:0000085	Horseshoe kidney
OMIM:163200	HRAS	3265	HP:0001028	Hemangioma
OMIM:163200	HRAS	3265	HP:0000938	Osteopenia
OMIM:163200	HRAS	3265	HP:0008064	Ichthyosis
OMIM:163200	HRAS	3265	HP:0001010	Hypopigmentation of the skin
OMIM:163200	HRAS	3265	HP:0002751	Kyphoscoliosis
OMIM:163200	HRAS	3265	HP:0001548	Overgrowth
OMIM:163200	HRAS	3265	HP:0001596	Alopecia
OMIM:163200	HRAS	3265	HP:0001680	Coarctation of aorta
OMIM:163200	HRAS	3265	HP:0004912	Hypophosphatemic rickets
OMIM:163200	HRAS	3265	HP:0001167	Abnormality of finger
OMIM:163200	HRAS	3265	HP:0000267	Cranial asymmetry
OMIM:163200	HRAS	3265	HP:0001780	Abnormality of toe
OMIM:163200	HRAS	3265	HP:0006482	Abnormality of dental morphology
OMIM:163200	HRAS	3265	HP:0001250	Seizures
OMIM:163200	HRAS	3265	HP:0003745	Sporadic
OMIM:163200	HRAS	3265	HP:0004322	Short stature
OMIM:163200	HRAS	3265	HP:0011073	Abnormality of dental color
OMIM:163200	HRAS	3265	HP:0002757	Recurrent fractures
OMIM:163200	HRAS	3265	HP:0007206	Hemimegalencephaly
OMIM:163200	HRAS	3265	HP:0010815	Nevus sebaceous
OMIM:163200	KRAS	3845	HP:0000589	Coloboma
OMIM:163200	KRAS	3845	HP:0002671	Basal cell carcinoma
OMIM:163200	KRAS	3845	HP:0001249	Intellectual disability
OMIM:163200	KRAS	3845	HP:0001442	Somatic mosaicism
OMIM:163200	KRAS	3845	HP:0000085	Horseshoe kidney
OMIM:163200	KRAS	3845	HP:0001028	Hemangioma
OMIM:163200	KRAS	3845	HP:0000938	Osteopenia
OMIM:163200	KRAS	3845	HP:0008064	Ichthyosis
OMIM:163200	KRAS	3845	HP:0001010	Hypopigmentation of the skin
OMIM:163200	KRAS	3845	HP:0002751	Kyphoscoliosis
OMIM:163200	KRAS	3845	HP:0001548	Overgrowth
OMIM:163200	KRAS	3845	HP:0001596	Alopecia
OMIM:163200	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:163200	KRAS	3845	HP:0004912	Hypophosphatemic rickets
OMIM:163200	KRAS	3845	HP:0001167	Abnormality of finger
OMIM:163200	KRAS	3845	HP:0000267	Cranial asymmetry
OMIM:163200	KRAS	3845	HP:0001780	Abnormality of toe
OMIM:163200	KRAS	3845	HP:0006482	Abnormality of dental morphology
OMIM:163200	KRAS	3845	HP:0001250	Seizures
OMIM:163200	KRAS	3845	HP:0003745	Sporadic
OMIM:163200	KRAS	3845	HP:0004322	Short stature
OMIM:163200	KRAS	3845	HP:0011073	Abnormality of dental color
OMIM:163200	KRAS	3845	HP:0002757	Recurrent fractures
OMIM:163200	KRAS	3845	HP:0007206	Hemimegalencephaly
OMIM:163200	KRAS	3845	HP:0010815	Nevus sebaceous
OMIM:163200	NRAS	4893	HP:0000589	Coloboma
OMIM:163200	NRAS	4893	HP:0002671	Basal cell carcinoma
OMIM:163200	NRAS	4893	HP:0001249	Intellectual disability
OMIM:163200	NRAS	4893	HP:0001442	Somatic mosaicism
OMIM:163200	NRAS	4893	HP:0000085	Horseshoe kidney
OMIM:163200	NRAS	4893	HP:0001028	Hemangioma
OMIM:163200	NRAS	4893	HP:0000938	Osteopenia
OMIM:163200	NRAS	4893	HP:0008064	Ichthyosis
OMIM:163200	NRAS	4893	HP:0001010	Hypopigmentation of the skin
OMIM:163200	NRAS	4893	HP:0002751	Kyphoscoliosis
OMIM:163200	NRAS	4893	HP:0001548	Overgrowth
OMIM:163200	NRAS	4893	HP:0001596	Alopecia
OMIM:163200	NRAS	4893	HP:0001680	Coarctation of aorta
OMIM:163200	NRAS	4893	HP:0004912	Hypophosphatemic rickets
OMIM:163200	NRAS	4893	HP:0001167	Abnormality of finger
OMIM:163200	NRAS	4893	HP:0000267	Cranial asymmetry
OMIM:163200	NRAS	4893	HP:0001780	Abnormality of toe
OMIM:163200	NRAS	4893	HP:0006482	Abnormality of dental morphology
OMIM:163200	NRAS	4893	HP:0001250	Seizures
OMIM:163200	NRAS	4893	HP:0003745	Sporadic
OMIM:163200	NRAS	4893	HP:0004322	Short stature
OMIM:163200	NRAS	4893	HP:0011073	Abnormality of dental color
OMIM:163200	NRAS	4893	HP:0002757	Recurrent fractures
OMIM:163200	NRAS	4893	HP:0007206	Hemimegalencephaly
OMIM:163200	NRAS	4893	HP:0010815	Nevus sebaceous
OMIM:601675	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:601675	ERCC2	2068	HP:0000486	Strabismus
OMIM:601675	ERCC2	2068	HP:0000518	Cataract
OMIM:601675	ERCC2	2068	HP:0007519	Lack of subcutaneous fatty tissue
OMIM:601675	ERCC2	2068	HP:0001518	Small for gestational age
OMIM:601675	ERCC2	2068	HP:0000750	Delayed speech and language development
OMIM:601675	ERCC2	2068	HP:0000278	Retrognathia
OMIM:601675	ERCC2	2068	HP:0004322	Short stature
OMIM:601675	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:601675	ERCC2	2068	HP:0000639	Nystagmus
OMIM:601675	ERCC2	2068	HP:0002860	Squamous cell carcinoma
OMIM:601675	ERCC2	2068	HP:0002671	Basal cell carcinoma
OMIM:601675	ERCC2	2068	HP:0000765	Abnormality of the thorax
OMIM:601675	ERCC2	2068	HP:0000135	Hypogonadism
OMIM:601675	ERCC2	2068	HP:0002024	Malabsorption
OMIM:601675	ERCC2	2068	HP:0002719	Recurrent infections
OMIM:601675	ERCC2	2068	HP:0004315	IgG deficiency
OMIM:601675	ERCC2	2068	HP:0001792	Small nail
OMIM:601675	ERCC2	2068	HP:0000613	Photophobia
OMIM:601675	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:601675	ERCC2	2068	HP:0000252	Microcephaly
OMIM:601675	ERCC2	2068	HP:0001019	Erythroderma
OMIM:601675	ERCC2	2068	HP:0001371	Flexion contracture
OMIM:601675	ERCC2	2068	HP:0002213	Fine hair
OMIM:601675	ERCC2	2068	HP:0002299	Brittle hair
OMIM:601675	ERCC2	2068	HP:0002099	Asthma
OMIM:601675	ERCC2	2068	HP:0008404	Nail dystrophy
OMIM:601675	ERCC2	2068	HP:0005214	Intestinal obstruction
OMIM:601675	ERCC2	2068	HP:0001808	Fragile nails
OMIM:601675	ERCC2	2068	HP:0000958	Dry skin
OMIM:601675	ERCC2	2068	HP:0009886	Trichorrhexis nodosa
OMIM:601675	ERCC2	2068	HP:0008070	Sparse hair
OMIM:601675	ERCC2	2068	HP:0001480	Freckling
OMIM:601675	ERCC2	2068	HP:0002028	Chronic diarrhea
OMIM:601675	ERCC2	2068	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
ORPHA:1596	MCTP2	55784	HP:0009882	Short distal phalanx of finger
ORPHA:1596	MCTP2	55784	HP:0010297	Bifid tongue
ORPHA:1596	MCTP2	55784	HP:0000365	Hearing impairment
ORPHA:1596	MCTP2	55784	HP:0000280	Coarse facial features
ORPHA:1596	MCTP2	55784	HP:0008897	Postnatal growth retardation
ORPHA:1596	MCTP2	55784	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:1596	MCTP2	55784	HP:0001511	Intrauterine growth retardation
ORPHA:1596	MCTP2	55784	HP:0000028	Cryptorchidism
ORPHA:1596	MCTP2	55784	HP:0005469	Flat occiput
ORPHA:1596	MCTP2	55784	HP:0000486	Strabismus
ORPHA:1596	MCTP2	55784	HP:0030918	Low 1-minute APGAR score
ORPHA:1596	MCTP2	55784	HP:0000582	Upslanted palpebral fissure
ORPHA:1596	MCTP2	55784	HP:0001718	Mitral stenosis
ORPHA:1596	MCTP2	55784	HP:0001762	Talipes equinovarus
ORPHA:1596	MCTP2	55784	HP:0000369	Low-set ears
ORPHA:1596	MCTP2	55784	HP:0000750	Delayed speech and language development
ORPHA:1596	MCTP2	55784	HP:0000729	Autistic behavior
ORPHA:1596	MCTP2	55784	HP:0030353	Decreased serum insulin-like growth factor 1
ORPHA:1596	MCTP2	55784	HP:0005709	2-3 toe cutaneous syndactyly
ORPHA:1596	MCTP2	55784	HP:0004322	Short stature
ORPHA:1596	MCTP2	55784	HP:0001647	Bicuspid aortic valve
ORPHA:1596	MCTP2	55784	HP:0000164	Abnormality of the dentition
ORPHA:1596	MCTP2	55784	HP:0001792	Small nail
ORPHA:1596	MCTP2	55784	HP:0012303	Abnormal aortic arch morphology
ORPHA:1596	MCTP2	55784	HP:0001671	Abnormality of the cardiac septa
ORPHA:1596	MCTP2	55784	HP:0000316	Hypertelorism
ORPHA:1596	MCTP2	55784	HP:0002089	Pulmonary hypoplasia
ORPHA:1596	MCTP2	55784	HP:0000581	Blepharophimosis
ORPHA:1596	MCTP2	55784	HP:0001508	Failure to thrive
ORPHA:1596	MCTP2	55784	HP:0040019	Finger clinodactyly
ORPHA:1596	MCTP2	55784	HP:0001680	Coarctation of aorta
ORPHA:1596	MCTP2	55784	HP:0000054	Micropenis
ORPHA:1596	MCTP2	55784	HP:0002857	Genu valgum
ORPHA:1596	MCTP2	55784	HP:0002827	Hip dislocation
ORPHA:1596	MCTP2	55784	HP:0000347	Micrognathia
ORPHA:1596	MCTP2	55784	HP:0000776	Congenital diaphragmatic hernia
ORPHA:1596	MCTP2	55784	HP:0002761	Generalized joint laxity
ORPHA:1596	MCTP2	55784	HP:0000047	Hypospadias
ORPHA:1596	MCTP2	55784	HP:0000219	Thin upper lip vermilion
ORPHA:1596	MCTP2	55784	HP:0000325	Triangular face
ORPHA:1596	MCTP2	55784	HP:0001518	Small for gestational age
ORPHA:1596	MCTP2	55784	HP:0200055	Small hand
ORPHA:1596	MCTP2	55784	HP:0001263	Global developmental delay
ORPHA:1596	MCTP2	55784	HP:0000175	Cleft palate
ORPHA:1596	MCTP2	55784	HP:0000455	Broad nasal tip
ORPHA:1596	MCTP2	55784	HP:0001250	Seizures
ORPHA:1596	MCTP2	55784	HP:0000252	Microcephaly
ORPHA:1596	MCTP2	55784	HP:0000322	Short philtrum
ORPHA:2903	FLCN	201163	HP:0002103	Abnormality of the pleura
ORPHA:2903	FLCN	201163	HP:0002107	Pneumothorax
ORPHA:587	MLH1	4292	HP:0003003	Colon cancer
ORPHA:587	MLH1	4292	HP:0009720	Adenoma sebaceum
ORPHA:587	MLH1	4292	HP:0006753	Neoplasm of the stomach
ORPHA:587	MSH2	4436	HP:0003003	Colon cancer
ORPHA:587	MSH2	4436	HP:0009720	Adenoma sebaceum
ORPHA:587	MSH2	4436	HP:0006753	Neoplasm of the stomach
ORPHA:587	MSH6	2956	HP:0003003	Colon cancer
ORPHA:587	MSH6	2956	HP:0009720	Adenoma sebaceum
ORPHA:587	MSH6	2956	HP:0006753	Neoplasm of the stomach
ORPHA:231249	HBB	3043	HP:0002721	Immunodeficiency
ORPHA:231249	HBB	3043	HP:0001903	Anemia
ORPHA:231249	HBB	3043	HP:0003281	Increased serum ferritin
ORPHA:231249	HBB	3043	HP:0011902	Abnormal hemoglobin
OMIM:225410	ADAMTS2	9509	HP:0009803	Short phalanx of finger
OMIM:225410	ADAMTS2	9509	HP:0000232	Everted lower lip vermilion
OMIM:225410	ADAMTS2	9509	HP:0001270	Motor delay
OMIM:225410	ADAMTS2	9509	HP:0001582	Redundant skin
OMIM:225410	ADAMTS2	9509	HP:0004322	Short stature
OMIM:225410	ADAMTS2	9509	HP:0000225	Gingival bleeding
OMIM:225410	ADAMTS2	9509	HP:0002983	Micromelia
OMIM:225410	ADAMTS2	9509	HP:0006344	Abnormality of primary molar morphology
OMIM:225410	ADAMTS2	9509	HP:0004876	Spontaneous neonatal pneumothorax
OMIM:225410	ADAMTS2	9509	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:225410	ADAMTS2	9509	HP:0000007	Autosomal recessive inheritance
OMIM:225410	ADAMTS2	9509	HP:0001537	Umbilical hernia
OMIM:225410	ADAMTS2	9509	HP:0000023	Inguinal hernia
OMIM:225410	ADAMTS2	9509	HP:0000978	Bruising susceptibility
OMIM:225410	ADAMTS2	9509	HP:0001027	Soft, doughy skin
OMIM:225410	ADAMTS2	9509	HP:0000592	Blue sclerae
OMIM:225410	ADAMTS2	9509	HP:0005332	Recurrent mandibular subluxations
OMIM:225410	ADAMTS2	9509	HP:0001788	Premature rupture of membranes
OMIM:225410	ADAMTS2	9509	HP:0001030	Fragile skin
OMIM:225410	ADAMTS2	9509	HP:0000286	Epicanthus
OMIM:225410	ADAMTS2	9509	HP:0000668	Hypodontia
OMIM:225410	ADAMTS2	9509	HP:0000260	Wide anterior fontanel
OMIM:225410	ADAMTS2	9509	HP:0000938	Osteopenia
OMIM:225410	ADAMTS2	9509	HP:0001831	Short toe
OMIM:225410	ADAMTS2	9509	HP:0001007	Hirsutism
OMIM:225410	ADAMTS2	9509	HP:0001622	Premature birth
OMIM:225410	ADAMTS2	9509	HP:0000545	Myopia
OMIM:225410	ADAMTS2	9509	HP:0000347	Micrognathia
OMIM:225410	ADAMTS2	9509	HP:0000494	Downslanted palpebral fissures
OMIM:225410	ADAMTS2	9509	HP:0200094	Frontal open bite
OMIM:225410	ADAMTS2	9509	HP:0000222	Gingival hyperkeratosis
OMIM:225410	ADAMTS2	9509	HP:0010749	Blepharochalasis
OMIM:225410	ADAMTS2	9509	HP:0000212	Gingival overgrowth
OMIM:225410	ADAMTS2	9509	HP:0012471	Thick vermilion border
OMIM:225410	ADAMTS2	9509	HP:0001388	Joint laxity
OMIM:613955	IL31RA	133396	HP:0012309	Cutaneous amyloidosis
OMIM:613955	IL31RA	133396	HP:0000989	Pruritus
OMIM:613955	IL31RA	133396	HP:0000006	Autosomal dominant inheritance
OMIM:616896	OPA1	4976	HP:0001612	Weak cry
OMIM:616896	OPA1	4976	HP:0008872	Feeding difficulties in infancy
OMIM:616896	OPA1	4976	HP:0000007	Autosomal recessive inheritance
OMIM:616896	OPA1	4976	HP:0011410	Caesarian section
OMIM:616896	OPA1	4976	HP:0000407	Sensorineural hearing impairment
OMIM:616896	OPA1	4976	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616896	OPA1	4976	HP:0008936	Muscular hypotonia of the trunk
OMIM:616896	OPA1	4976	HP:0003202	Skeletal muscle atrophy
OMIM:616896	OPA1	4976	HP:0002104	Apnea
OMIM:616896	OPA1	4976	HP:0000546	Retinal degeneration
OMIM:616896	OPA1	4976	HP:0012736	Profound global developmental delay
OMIM:616896	OPA1	4976	HP:0001623	Breech presentation
OMIM:616896	OPA1	4976	HP:0002179	Opisthotonus
OMIM:178110	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:178110	MYH3	4621	HP:0012385	Camptodactyly
OMIM:178110	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:178110	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:178110	MYH3	4621	HP:0004322	Short stature
OMIM:178110	MYH3	4621	HP:0001040	Multiple pterygia
OMIM:178110	MYH3	4621	HP:0002650	Scoliosis
OMIM:178110	MYH3	4621	HP:0000508	Ptosis
OMIM:178110	MYH3	4621	HP:0002937	Hemivertebrae
OMIM:178110	MYH3	4621	HP:0002987	Elbow flexion contracture
OMIM:178110	MYH3	4621	HP:0000368	Low-set, posteriorly rotated ears
OMIM:178110	MYH3	4621	HP:0000470	Short neck
OMIM:178110	MYH3	4621	HP:0002948	Vertebral fusion
OMIM:178110	MYH3	4621	HP:0000494	Downslanted palpebral fissures
OMIM:616947	SYCE1	93426	HP:0000786	Primary amenorrhea
OMIM:616947	SYCE1	93426	HP:0000007	Autosomal recessive inheritance
OMIM:616947	SYCE1	93426	HP:0007754	Macular dystrophy
OMIM:616947	SYCE1	93426	HP:0000568	Microphthalmia
OMIM:611880	TNNI3	7137	HP:0011462	Young adult onset
OMIM:611880	TNNI3	7137	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:611880	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TNNI3	7137	HP:0003621	Juvenile onset
ORPHA:2140	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2140	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:614225	RAB3GAP2	25782	HP:0005484	Postnatal microcephaly
OMIM:614225	RAB3GAP2	25782	HP:0010722	Asymmetry of the ears
OMIM:614225	RAB3GAP2	25782	HP:0000426	Prominent nasal bridge
OMIM:614225	RAB3GAP2	25782	HP:0000294	Low anterior hairline
OMIM:614225	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:614225	RAB3GAP2	25782	HP:0002126	Polymicrogyria
OMIM:614225	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:614225	RAB3GAP2	25782	HP:0000482	Microcornea
OMIM:614225	RAB3GAP2	25782	HP:0003196	Short nose
OMIM:614225	RAB3GAP2	25782	HP:0002283	Global brain atrophy
OMIM:614225	RAB3GAP2	25782	HP:0011344	Severe global developmental delay
OMIM:614225	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:614225	RAB3GAP2	25782	HP:0000648	Optic atrophy
OMIM:614225	RAB3GAP2	25782	HP:0008897	Postnatal growth retardation
OMIM:614225	RAB3GAP2	25782	HP:0008936	Muscular hypotonia of the trunk
OMIM:614225	RAB3GAP2	25782	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614225	RAB3GAP2	25782	HP:0000518	Cataract
OMIM:614225	RAB3GAP2	25782	HP:0000519	Congenital cataract
OMIM:614225	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:614225	RAB3GAP2	25782	HP:0001845	Overlapping toe
OMIM:614225	RAB3GAP2	25782	HP:0000400	Macrotia
OMIM:614225	RAB3GAP2	25782	HP:0000568	Microphthalmia
OMIM:614225	RAB3GAP2	25782	HP:0001371	Flexion contracture
OMIM:614225	RAB3GAP2	25782	HP:0007965	Undetectable visual evoked potentials
OMIM:614225	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
OMIM:614225	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:614225	RAB3GAP2	25782	HP:0000046	Scrotal hypoplasia
OMIM:614225	RAB3GAP2	25782	HP:0000059	Hypoplastic labia majora
OMIM:615453	CYC1	1537	HP:0001987	Hyperammonemia
OMIM:615453	CYC1	1537	HP:0003128	Lactic acidosis
OMIM:615453	CYC1	1537	HP:0002910	Elevated hepatic transaminases
OMIM:615453	CYC1	1537	HP:0001993	Ketoacidosis
OMIM:615453	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615453	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:615453	CYC1	1537	HP:0005974	Episodic ketoacidosis
OMIM:615453	CYC1	1537	HP:0006554	Acute hepatic failure
OMIM:144200	KRT9	3857	HP:0000972	Palmoplantar hyperkeratosis
OMIM:144200	KRT9	3857	HP:0003212	Increased IgE level
OMIM:144200	KRT9	3857	HP:0000006	Autosomal dominant inheritance
OMIM:144200	KRT9	3857	HP:0007559	Localized epidermolytic hyperkeratosis
OMIM:144200	KRT1	3848	HP:0000972	Palmoplantar hyperkeratosis
OMIM:144200	KRT1	3848	HP:0003212	Increased IgE level
OMIM:144200	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:144200	KRT1	3848	HP:0007559	Localized epidermolytic hyperkeratosis
ORPHA:168593	TSPYL1	7259	HP:0002459	Dysautonomia
ORPHA:168593	TSPYL1	7259	HP:0001510	Growth delay
ORPHA:168593	TSPYL1	7259	HP:0002020	Gastroesophageal reflux
ORPHA:168593	TSPYL1	7259	HP:0001608	Abnormality of the voice
ORPHA:168593	TSPYL1	7259	HP:0002045	Hypothermia
ORPHA:168593	TSPYL1	7259	HP:0000046	Scrotal hypoplasia
ORPHA:168593	TSPYL1	7259	HP:0001265	Hyporeflexia
ORPHA:168593	TSPYL1	7259	HP:0001695	Cardiac arrest
ORPHA:168593	TSPYL1	7259	HP:0008736	Hypoplasia of penis
ORPHA:168593	TSPYL1	7259	HP:0000602	Ophthalmoplegia
ORPHA:168593	TSPYL1	7259	HP:0000062	Ambiguous genitalia
ORPHA:168593	TSPYL1	7259	HP:0000028	Cryptorchidism
ORPHA:168593	TSPYL1	7259	HP:0010535	Sleep apnea
ORPHA:168593	TSPYL1	7259	HP:0001336	Myoclonus
ORPHA:168593	TSPYL1	7259	HP:0001522	Death in infancy
OMIM:613740	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TMPO	7112	HP:0006673	Reduced systolic function
ORPHA:289	EVC2	132884	HP:0001511	Intrauterine growth retardation
ORPHA:289	EVC2	132884	HP:0001800	Hypoplastic toenails
ORPHA:289	EVC2	132884	HP:0000047	Hypospadias
ORPHA:289	EVC2	132884	HP:0001231	Abnormality of the fingernails
ORPHA:289	EVC2	132884	HP:0001508	Failure to thrive
ORPHA:289	EVC2	132884	HP:0000028	Cryptorchidism
ORPHA:289	EVC2	132884	HP:0000691	Microdontia
ORPHA:289	EVC2	132884	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:289	EVC2	132884	HP:0000039	Epispadias
ORPHA:289	EVC2	132884	HP:0001161	Hand polydactyly
ORPHA:289	EVC2	132884	HP:0009882	Short distal phalanx of finger
ORPHA:289	EVC2	132884	HP:0001629	Ventricular septal defect
ORPHA:289	EVC2	132884	HP:0000486	Strabismus
ORPHA:289	EVC2	132884	HP:0002983	Micromelia
ORPHA:289	EVC2	132884	HP:0011065	Conical incisor
ORPHA:289	EVC2	132884	HP:0000190	Abnormality of oral frenula
ORPHA:289	EVC2	132884	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:289	EVC2	132884	HP:0001696	Situs inversus totalis
ORPHA:289	EVC2	132884	HP:0002164	Nail dysplasia
ORPHA:289	EVC2	132884	HP:0000774	Narrow chest
ORPHA:289	EVC2	132884	HP:0006695	Atrioventricular canal defect
ORPHA:289	EVC2	132884	HP:0010306	Short thorax
ORPHA:289	EVC2	132884	HP:0011830	Abnormality of oral mucosa
ORPHA:289	EVC2	132884	HP:0001631	Atrial septal defect
ORPHA:289	EVC2	132884	HP:0001829	Foot polydactyly
ORPHA:289	EVC2	132884	HP:0008921	Neonatal short-limb short stature
ORPHA:289	EVC2	132884	HP:0000668	Hypodontia
ORPHA:289	EVC2	132884	HP:0002857	Genu valgum
ORPHA:289	EVC2	132884	HP:0001654	Abnormality of the heart valves
ORPHA:289	EVC2	132884	HP:0001241	Capitate-hamate fusion
ORPHA:289	EVC	2121	HP:0001511	Intrauterine growth retardation
ORPHA:289	EVC	2121	HP:0001800	Hypoplastic toenails
ORPHA:289	EVC	2121	HP:0000047	Hypospadias
ORPHA:289	EVC	2121	HP:0001231	Abnormality of the fingernails
ORPHA:289	EVC	2121	HP:0001508	Failure to thrive
ORPHA:289	EVC	2121	HP:0000028	Cryptorchidism
ORPHA:289	EVC	2121	HP:0000691	Microdontia
ORPHA:289	EVC	2121	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:289	EVC	2121	HP:0000039	Epispadias
ORPHA:289	EVC	2121	HP:0001161	Hand polydactyly
ORPHA:289	EVC	2121	HP:0009882	Short distal phalanx of finger
ORPHA:289	EVC	2121	HP:0001629	Ventricular septal defect
ORPHA:289	EVC	2121	HP:0000486	Strabismus
ORPHA:289	EVC	2121	HP:0002983	Micromelia
ORPHA:289	EVC	2121	HP:0011065	Conical incisor
ORPHA:289	EVC	2121	HP:0000190	Abnormality of oral frenula
ORPHA:289	EVC	2121	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:289	EVC	2121	HP:0001696	Situs inversus totalis
ORPHA:289	EVC	2121	HP:0002164	Nail dysplasia
ORPHA:289	EVC	2121	HP:0000774	Narrow chest
ORPHA:289	EVC	2121	HP:0006695	Atrioventricular canal defect
ORPHA:289	EVC	2121	HP:0010306	Short thorax
ORPHA:289	EVC	2121	HP:0011830	Abnormality of oral mucosa
ORPHA:289	EVC	2121	HP:0001631	Atrial septal defect
ORPHA:289	EVC	2121	HP:0001829	Foot polydactyly
ORPHA:289	EVC	2121	HP:0008921	Neonatal short-limb short stature
ORPHA:289	EVC	2121	HP:0000668	Hypodontia
ORPHA:289	EVC	2121	HP:0002857	Genu valgum
ORPHA:289	EVC	2121	HP:0001654	Abnormality of the heart valves
ORPHA:289	EVC	2121	HP:0001241	Capitate-hamate fusion
ORPHA:289	DYNC2LI1	51626	HP:0001511	Intrauterine growth retardation
ORPHA:289	DYNC2LI1	51626	HP:0001800	Hypoplastic toenails
ORPHA:289	DYNC2LI1	51626	HP:0000047	Hypospadias
ORPHA:289	DYNC2LI1	51626	HP:0001231	Abnormality of the fingernails
ORPHA:289	DYNC2LI1	51626	HP:0001508	Failure to thrive
ORPHA:289	DYNC2LI1	51626	HP:0000028	Cryptorchidism
ORPHA:289	DYNC2LI1	51626	HP:0000691	Microdontia
ORPHA:289	DYNC2LI1	51626	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:289	DYNC2LI1	51626	HP:0000039	Epispadias
ORPHA:289	DYNC2LI1	51626	HP:0001161	Hand polydactyly
ORPHA:289	DYNC2LI1	51626	HP:0009882	Short distal phalanx of finger
ORPHA:289	DYNC2LI1	51626	HP:0001629	Ventricular septal defect
ORPHA:289	DYNC2LI1	51626	HP:0000486	Strabismus
ORPHA:289	DYNC2LI1	51626	HP:0002983	Micromelia
ORPHA:289	DYNC2LI1	51626	HP:0011065	Conical incisor
ORPHA:289	DYNC2LI1	51626	HP:0000190	Abnormality of oral frenula
ORPHA:289	DYNC2LI1	51626	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:289	DYNC2LI1	51626	HP:0001696	Situs inversus totalis
ORPHA:289	DYNC2LI1	51626	HP:0002164	Nail dysplasia
ORPHA:289	DYNC2LI1	51626	HP:0000774	Narrow chest
ORPHA:289	DYNC2LI1	51626	HP:0006695	Atrioventricular canal defect
ORPHA:289	DYNC2LI1	51626	HP:0010306	Short thorax
ORPHA:289	DYNC2LI1	51626	HP:0011830	Abnormality of oral mucosa
ORPHA:289	DYNC2LI1	51626	HP:0001631	Atrial septal defect
ORPHA:289	DYNC2LI1	51626	HP:0001829	Foot polydactyly
ORPHA:289	DYNC2LI1	51626	HP:0008921	Neonatal short-limb short stature
ORPHA:289	DYNC2LI1	51626	HP:0000668	Hypodontia
ORPHA:289	DYNC2LI1	51626	HP:0002857	Genu valgum
ORPHA:289	DYNC2LI1	51626	HP:0001654	Abnormality of the heart valves
ORPHA:289	DYNC2LI1	51626	HP:0001241	Capitate-hamate fusion
OMIM:617217	GPR68	8111	HP:0200095	Anterior open bite
OMIM:617217	GPR68	8111	HP:0000007	Autosomal recessive inheritance
OMIM:615107	KLLN	100144748	HP:3000019	Abnormality of buccal mucosa
OMIM:615107	KLLN	100144748	HP:0012844	Trichilemmoma
OMIM:615107	KLLN	100144748	HP:0009726	Renal neoplasm
OMIM:615107	KLLN	100144748	HP:0000168	Abnormality of the gingiva
OMIM:615107	KLLN	100144748	HP:0010566	Hamartoma
OMIM:609304	SLC25A22	79751	HP:0003819	Death in childhood
OMIM:609304	SLC25A22	79751	HP:0000253	Progressive microcephaly
OMIM:609304	SLC25A22	79751	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:609304	SLC25A22	79751	HP:0001257	Spasticity
OMIM:609304	SLC25A22	79751	HP:0012448	Delayed myelination
OMIM:609304	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:609304	SLC25A22	79751	HP:0001319	Neonatal hypotonia
OMIM:609304	SLC25A22	79751	HP:0000007	Autosomal recessive inheritance
OMIM:616732	RTN4IP1	84816	HP:0007663	Reduced visual acuity
OMIM:616732	RTN4IP1	84816	HP:0000007	Autosomal recessive inheritance
OMIM:616732	RTN4IP1	84816	HP:0000543	Optic disc pallor
OMIM:616732	RTN4IP1	84816	HP:0000613	Photophobia
OMIM:138000	GLMN	11146	HP:0000006	Autosomal dominant inheritance
OMIM:138000	GLMN	11146	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:138000	GLMN	11146	HP:0000951	Abnormality of the skin
OMIM:308990	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:308990	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:308990	CLCN5	1184	HP:0000097	Focal segmental glomerulosclerosis
OMIM:308990	CLCN5	1184	HP:0000083	Renal insufficiency
OMIM:308990	CLCN5	1184	HP:0002907	Microscopic hematuria
OMIM:308990	CLCN5	1184	HP:0000114	Proximal tubulopathy
OMIM:308990	CLCN5	1184	HP:0003677	Slow progression
OMIM:308990	CLCN5	1184	HP:0004322	Short stature
OMIM:308990	CLCN5	1184	HP:0003355	Aminoaciduria
OMIM:308990	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:308990	CLCN5	1184	HP:0000092	Tubular atrophy
OMIM:308990	CLCN5	1184	HP:0003126	Low-molecular-weight proteinuria
OMIM:308990	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:308990	CLCN5	1184	HP:0003076	Glycosuria
OMIM:176000	HMBS	3145	HP:0001649	Tachycardia
OMIM:176000	HMBS	3145	HP:0000016	Urinary retention
OMIM:176000	HMBS	3145	HP:0002019	Constipation
OMIM:176000	HMBS	3145	HP:0002590	Paralytic ileus
OMIM:176000	HMBS	3145	HP:0002013	Vomiting
OMIM:176000	HMBS	3145	HP:0002027	Abdominal pain
OMIM:176000	HMBS	3145	HP:0002018	Nausea
OMIM:176000	HMBS	3145	HP:0000716	Depressivity
OMIM:176000	HMBS	3145	HP:0000822	Hypertension
OMIM:176000	HMBS	3145	HP:0001324	Muscle weakness
OMIM:176000	HMBS	3145	HP:0002014	Diarrhea
OMIM:176000	HMBS	3145	HP:0001250	Seizures
OMIM:176000	HMBS	3145	HP:0001402	Hepatocellular carcinoma
OMIM:176000	HMBS	3145	HP:0002203	Respiratory paralysis
OMIM:176000	HMBS	3145	HP:0100518	Dysuria
OMIM:176000	HMBS	3145	HP:0000020	Urinary incontinence
OMIM:176000	HMBS	3145	HP:0000739	Anxiety
OMIM:176000	HMBS	3145	HP:0003489	Acute episodes of neuropathic symptoms
OMIM:176000	HMBS	3145	HP:0003163	Elevated urinary delta-aminolevulinic acid
OMIM:176000	HMBS	3145	HP:0000725	Psychotic episodes
OMIM:176000	HMBS	3145	HP:0003401	Paresthesia
OMIM:176000	HMBS	3145	HP:0000006	Autosomal dominant inheritance
OMIM:615504	CCDC65	85478	HP:0004469	Chronic bronchitis
OMIM:615504	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:615504	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615504	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC65	85478	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615504	CCDC65	85478	HP:0012265	Ciliary dyskinesia
OMIM:615504	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC65	85478	HP:0012384	Rhinitis
OMIM:615504	CCDC65	85478	HP:0002110	Bronchiectasis
ORPHA:201	PTEN	5728	HP:0000982	Palmoplantar keratoderma
ORPHA:201	PTEN	5728	HP:0012032	Lipoma
ORPHA:201	PTEN	5728	HP:0000256	Macrocephaly
ORPHA:201	PTEN	5728	HP:0002858	Meningioma
ORPHA:201	PTEN	5728	HP:0001249	Intellectual disability
ORPHA:201	PTEN	5728	HP:0001482	Subcutaneous nodule
ORPHA:201	PTEN	5728	HP:0000221	Furrowed tongue
ORPHA:201	PTEN	5728	HP:0100780	Conjunctival hamartoma
ORPHA:201	PTEN	5728	HP:0001251	Ataxia
ORPHA:201	PTEN	5728	HP:0005595	Generalized hyperkeratosis
ORPHA:201	PTEN	5728	HP:0001263	Global developmental delay
ORPHA:201	PTEN	5728	HP:0009720	Adenoma sebaceum
ORPHA:201	PTEN	5728	HP:0000158	Macroglossia
ORPHA:201	PTEN	5728	HP:0000853	Goiter
ORPHA:201	PTEN	5728	HP:0000036	Abnormality of the penis
ORPHA:201	PTEN	5728	HP:0000995	Melanocytic nevus
ORPHA:201	PTEN	5728	HP:0012740	Papilloma
ORPHA:201	PTEN	5728	HP:0004390	Hamartomatous polyposis
ORPHA:201	PTEN	5728	HP:0100543	Cognitive impairment
ORPHA:201	PTEN	5728	HP:0100579	Mucosal telangiectasiae
ORPHA:201	PTEN	5728	HP:0200034	Papule
ORPHA:201	PTEN	5728	HP:0003002	Breast carcinoma
ORPHA:201	PTEN	5728	HP:0001048	Cavernous hemangioma
ORPHA:201	PTEN	5728	HP:0200063	Colorectal polyposis
ORPHA:201	PTEN	5728	HP:0012733	Macule
ORPHA:201	SEC23B	10483	HP:0000982	Palmoplantar keratoderma
ORPHA:201	SEC23B	10483	HP:0012032	Lipoma
ORPHA:201	SEC23B	10483	HP:0000256	Macrocephaly
ORPHA:201	SEC23B	10483	HP:0002858	Meningioma
ORPHA:201	SEC23B	10483	HP:0001249	Intellectual disability
ORPHA:201	SEC23B	10483	HP:0001482	Subcutaneous nodule
ORPHA:201	SEC23B	10483	HP:0000221	Furrowed tongue
ORPHA:201	SEC23B	10483	HP:0100780	Conjunctival hamartoma
ORPHA:201	SEC23B	10483	HP:0001251	Ataxia
ORPHA:201	SEC23B	10483	HP:0005595	Generalized hyperkeratosis
ORPHA:201	SEC23B	10483	HP:0001263	Global developmental delay
ORPHA:201	SEC23B	10483	HP:0009720	Adenoma sebaceum
ORPHA:201	SEC23B	10483	HP:0000158	Macroglossia
ORPHA:201	SEC23B	10483	HP:0000853	Goiter
ORPHA:201	SEC23B	10483	HP:0000036	Abnormality of the penis
ORPHA:201	SEC23B	10483	HP:0000995	Melanocytic nevus
ORPHA:201	SEC23B	10483	HP:0012740	Papilloma
ORPHA:201	SEC23B	10483	HP:0004390	Hamartomatous polyposis
ORPHA:201	SEC23B	10483	HP:0100543	Cognitive impairment
ORPHA:201	SEC23B	10483	HP:0100579	Mucosal telangiectasiae
ORPHA:201	SEC23B	10483	HP:0200034	Papule
ORPHA:201	SEC23B	10483	HP:0003002	Breast carcinoma
ORPHA:201	SEC23B	10483	HP:0001048	Cavernous hemangioma
ORPHA:201	SEC23B	10483	HP:0200063	Colorectal polyposis
ORPHA:201	SEC23B	10483	HP:0012733	Macule
ORPHA:201	KLLN	100144748	HP:0000982	Palmoplantar keratoderma
ORPHA:201	KLLN	100144748	HP:0012032	Lipoma
ORPHA:201	KLLN	100144748	HP:0000256	Macrocephaly
ORPHA:201	KLLN	100144748	HP:0002858	Meningioma
ORPHA:201	KLLN	100144748	HP:0001249	Intellectual disability
ORPHA:201	KLLN	100144748	HP:0001482	Subcutaneous nodule
ORPHA:201	KLLN	100144748	HP:0000221	Furrowed tongue
ORPHA:201	KLLN	100144748	HP:0100780	Conjunctival hamartoma
ORPHA:201	KLLN	100144748	HP:0001251	Ataxia
ORPHA:201	KLLN	100144748	HP:0005595	Generalized hyperkeratosis
ORPHA:201	KLLN	100144748	HP:0001263	Global developmental delay
ORPHA:201	KLLN	100144748	HP:0009720	Adenoma sebaceum
ORPHA:201	KLLN	100144748	HP:0000158	Macroglossia
ORPHA:201	KLLN	100144748	HP:0000853	Goiter
ORPHA:201	KLLN	100144748	HP:0000036	Abnormality of the penis
ORPHA:201	KLLN	100144748	HP:0000995	Melanocytic nevus
ORPHA:201	KLLN	100144748	HP:0012740	Papilloma
ORPHA:201	KLLN	100144748	HP:0004390	Hamartomatous polyposis
ORPHA:201	KLLN	100144748	HP:0100543	Cognitive impairment
ORPHA:201	KLLN	100144748	HP:0100579	Mucosal telangiectasiae
ORPHA:201	KLLN	100144748	HP:0200034	Papule
ORPHA:201	KLLN	100144748	HP:0003002	Breast carcinoma
ORPHA:201	KLLN	100144748	HP:0001048	Cavernous hemangioma
ORPHA:201	KLLN	100144748	HP:0200063	Colorectal polyposis
ORPHA:201	KLLN	100144748	HP:0012733	Macule
ORPHA:201	SDHB	6390	HP:0000982	Palmoplantar keratoderma
ORPHA:201	SDHB	6390	HP:0012032	Lipoma
ORPHA:201	SDHB	6390	HP:0000256	Macrocephaly
ORPHA:201	SDHB	6390	HP:0002858	Meningioma
ORPHA:201	SDHB	6390	HP:0001249	Intellectual disability
ORPHA:201	SDHB	6390	HP:0001482	Subcutaneous nodule
ORPHA:201	SDHB	6390	HP:0000221	Furrowed tongue
ORPHA:201	SDHB	6390	HP:0100780	Conjunctival hamartoma
ORPHA:201	SDHB	6390	HP:0001251	Ataxia
ORPHA:201	SDHB	6390	HP:0005595	Generalized hyperkeratosis
ORPHA:201	SDHB	6390	HP:0001263	Global developmental delay
ORPHA:201	SDHB	6390	HP:0009720	Adenoma sebaceum
ORPHA:201	SDHB	6390	HP:0000158	Macroglossia
ORPHA:201	SDHB	6390	HP:0000853	Goiter
ORPHA:201	SDHB	6390	HP:0000036	Abnormality of the penis
ORPHA:201	SDHB	6390	HP:0000995	Melanocytic nevus
ORPHA:201	SDHB	6390	HP:0012740	Papilloma
ORPHA:201	SDHB	6390	HP:0004390	Hamartomatous polyposis
ORPHA:201	SDHB	6390	HP:0100543	Cognitive impairment
ORPHA:201	SDHB	6390	HP:0100579	Mucosal telangiectasiae
ORPHA:201	SDHB	6390	HP:0200034	Papule
ORPHA:201	SDHB	6390	HP:0003002	Breast carcinoma
ORPHA:201	SDHB	6390	HP:0001048	Cavernous hemangioma
ORPHA:201	SDHB	6390	HP:0200063	Colorectal polyposis
ORPHA:201	SDHB	6390	HP:0012733	Macule
ORPHA:201	SDHC	6391	HP:0000982	Palmoplantar keratoderma
ORPHA:201	SDHC	6391	HP:0012032	Lipoma
ORPHA:201	SDHC	6391	HP:0000256	Macrocephaly
ORPHA:201	SDHC	6391	HP:0002858	Meningioma
ORPHA:201	SDHC	6391	HP:0001249	Intellectual disability
ORPHA:201	SDHC	6391	HP:0001482	Subcutaneous nodule
ORPHA:201	SDHC	6391	HP:0000221	Furrowed tongue
ORPHA:201	SDHC	6391	HP:0100780	Conjunctival hamartoma
ORPHA:201	SDHC	6391	HP:0001251	Ataxia
ORPHA:201	SDHC	6391	HP:0005595	Generalized hyperkeratosis
ORPHA:201	SDHC	6391	HP:0001263	Global developmental delay
ORPHA:201	SDHC	6391	HP:0009720	Adenoma sebaceum
ORPHA:201	SDHC	6391	HP:0000158	Macroglossia
ORPHA:201	SDHC	6391	HP:0000853	Goiter
ORPHA:201	SDHC	6391	HP:0000036	Abnormality of the penis
ORPHA:201	SDHC	6391	HP:0000995	Melanocytic nevus
ORPHA:201	SDHC	6391	HP:0012740	Papilloma
ORPHA:201	SDHC	6391	HP:0004390	Hamartomatous polyposis
ORPHA:201	SDHC	6391	HP:0100543	Cognitive impairment
ORPHA:201	SDHC	6391	HP:0100579	Mucosal telangiectasiae
ORPHA:201	SDHC	6391	HP:0200034	Papule
ORPHA:201	SDHC	6391	HP:0003002	Breast carcinoma
ORPHA:201	SDHC	6391	HP:0001048	Cavernous hemangioma
ORPHA:201	SDHC	6391	HP:0200063	Colorectal polyposis
ORPHA:201	SDHC	6391	HP:0012733	Macule
ORPHA:201	SDHD	6392	HP:0000982	Palmoplantar keratoderma
ORPHA:201	SDHD	6392	HP:0012032	Lipoma
ORPHA:201	SDHD	6392	HP:0000256	Macrocephaly
ORPHA:201	SDHD	6392	HP:0002858	Meningioma
ORPHA:201	SDHD	6392	HP:0001249	Intellectual disability
ORPHA:201	SDHD	6392	HP:0001482	Subcutaneous nodule
ORPHA:201	SDHD	6392	HP:0000221	Furrowed tongue
ORPHA:201	SDHD	6392	HP:0100780	Conjunctival hamartoma
ORPHA:201	SDHD	6392	HP:0001251	Ataxia
ORPHA:201	SDHD	6392	HP:0005595	Generalized hyperkeratosis
ORPHA:201	SDHD	6392	HP:0001263	Global developmental delay
ORPHA:201	SDHD	6392	HP:0009720	Adenoma sebaceum
ORPHA:201	SDHD	6392	HP:0000158	Macroglossia
ORPHA:201	SDHD	6392	HP:0000853	Goiter
ORPHA:201	SDHD	6392	HP:0000036	Abnormality of the penis
ORPHA:201	SDHD	6392	HP:0000995	Melanocytic nevus
ORPHA:201	SDHD	6392	HP:0012740	Papilloma
ORPHA:201	SDHD	6392	HP:0004390	Hamartomatous polyposis
ORPHA:201	SDHD	6392	HP:0100543	Cognitive impairment
ORPHA:201	SDHD	6392	HP:0100579	Mucosal telangiectasiae
ORPHA:201	SDHD	6392	HP:0200034	Papule
ORPHA:201	SDHD	6392	HP:0003002	Breast carcinoma
ORPHA:201	SDHD	6392	HP:0001048	Cavernous hemangioma
ORPHA:201	SDHD	6392	HP:0200063	Colorectal polyposis
ORPHA:201	SDHD	6392	HP:0012733	Macule
ORPHA:201	PIK3CA	5290	HP:0000982	Palmoplantar keratoderma
ORPHA:201	PIK3CA	5290	HP:0012032	Lipoma
ORPHA:201	PIK3CA	5290	HP:0000256	Macrocephaly
ORPHA:201	PIK3CA	5290	HP:0002858	Meningioma
ORPHA:201	PIK3CA	5290	HP:0001249	Intellectual disability
ORPHA:201	PIK3CA	5290	HP:0001482	Subcutaneous nodule
ORPHA:201	PIK3CA	5290	HP:0000221	Furrowed tongue
ORPHA:201	PIK3CA	5290	HP:0100780	Conjunctival hamartoma
ORPHA:201	PIK3CA	5290	HP:0001251	Ataxia
ORPHA:201	PIK3CA	5290	HP:0005595	Generalized hyperkeratosis
ORPHA:201	PIK3CA	5290	HP:0001263	Global developmental delay
ORPHA:201	PIK3CA	5290	HP:0009720	Adenoma sebaceum
ORPHA:201	PIK3CA	5290	HP:0000158	Macroglossia
ORPHA:201	PIK3CA	5290	HP:0000853	Goiter
ORPHA:201	PIK3CA	5290	HP:0000036	Abnormality of the penis
ORPHA:201	PIK3CA	5290	HP:0000995	Melanocytic nevus
ORPHA:201	PIK3CA	5290	HP:0012740	Papilloma
ORPHA:201	PIK3CA	5290	HP:0004390	Hamartomatous polyposis
ORPHA:201	PIK3CA	5290	HP:0100543	Cognitive impairment
ORPHA:201	PIK3CA	5290	HP:0100579	Mucosal telangiectasiae
ORPHA:201	PIK3CA	5290	HP:0200034	Papule
ORPHA:201	PIK3CA	5290	HP:0003002	Breast carcinoma
ORPHA:201	PIK3CA	5290	HP:0001048	Cavernous hemangioma
ORPHA:201	PIK3CA	5290	HP:0200063	Colorectal polyposis
ORPHA:201	PIK3CA	5290	HP:0012733	Macule
ORPHA:201	AKT1	207	HP:0000982	Palmoplantar keratoderma
ORPHA:201	AKT1	207	HP:0012032	Lipoma
ORPHA:201	AKT1	207	HP:0000256	Macrocephaly
ORPHA:201	AKT1	207	HP:0002858	Meningioma
ORPHA:201	AKT1	207	HP:0001249	Intellectual disability
ORPHA:201	AKT1	207	HP:0001482	Subcutaneous nodule
ORPHA:201	AKT1	207	HP:0000221	Furrowed tongue
ORPHA:201	AKT1	207	HP:0100780	Conjunctival hamartoma
ORPHA:201	AKT1	207	HP:0001251	Ataxia
ORPHA:201	AKT1	207	HP:0005595	Generalized hyperkeratosis
ORPHA:201	AKT1	207	HP:0001263	Global developmental delay
ORPHA:201	AKT1	207	HP:0009720	Adenoma sebaceum
ORPHA:201	AKT1	207	HP:0000158	Macroglossia
ORPHA:201	AKT1	207	HP:0000853	Goiter
ORPHA:201	AKT1	207	HP:0000036	Abnormality of the penis
ORPHA:201	AKT1	207	HP:0000995	Melanocytic nevus
ORPHA:201	AKT1	207	HP:0012740	Papilloma
ORPHA:201	AKT1	207	HP:0004390	Hamartomatous polyposis
ORPHA:201	AKT1	207	HP:0100543	Cognitive impairment
ORPHA:201	AKT1	207	HP:0100579	Mucosal telangiectasiae
ORPHA:201	AKT1	207	HP:0200034	Papule
ORPHA:201	AKT1	207	HP:0003002	Breast carcinoma
ORPHA:201	AKT1	207	HP:0001048	Cavernous hemangioma
ORPHA:201	AKT1	207	HP:0200063	Colorectal polyposis
ORPHA:201	AKT1	207	HP:0012733	Macule
OMIM:607143	ALG12	79087	HP:0000253	Progressive microcephaly
OMIM:607143	ALG12	79087	HP:0000377	Abnormality of the pinna
OMIM:607143	ALG12	79087	HP:0001508	Failure to thrive
OMIM:607143	ALG12	79087	HP:0002901	Hypocalcemia
OMIM:607143	ALG12	79087	HP:0000322	Short philtrum
OMIM:607143	ALG12	79087	HP:0011947	Respiratory tract infection
OMIM:607143	ALG12	79087	HP:0003645	Prolonged partial thromboplastin time
OMIM:607143	ALG12	79087	HP:0011968	Feeding difficulties
OMIM:607143	ALG12	79087	HP:0001290	Generalized hypotonia
ORPHA:1475	PAX2	5076	HP:0000076	Vesicoureteral reflux
ORPHA:1475	PAX2	5076	HP:0000110	Renal dysplasia
ORPHA:1475	PAX2	5076	HP:0000505	Visual impairment
ORPHA:1475	PAX2	5076	HP:0001093	Optic nerve dysplasia
ORPHA:1475	PAX2	5076	HP:0000003	Multicystic kidney dysplasia
ORPHA:1475	PAX2	5076	HP:0000089	Renal hypoplasia
ORPHA:1475	PAX2	5076	HP:0000083	Renal insufficiency
ORPHA:1475	PAX2	5076	HP:0000545	Myopia
OMIM:605389	APCDD1	147495	HP:0000007	Autosomal recessive inheritance
OMIM:605389	APCDD1	147495	HP:0001006	Hypotrichosis
OMIM:605389	APCDD1	147495	HP:0000006	Autosomal dominant inheritance
OMIM:130060	COL1A1	1277	HP:0001388	Joint laxity
OMIM:130060	COL1A1	1277	HP:0003088	Premature osteoarthritis
OMIM:130060	COL1A1	1277	HP:0002194	Delayed gross motor development
OMIM:130060	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:130060	COL1A1	1277	HP:0003502	Mild short stature
OMIM:130060	COL1A1	1277	HP:0002808	Kyphosis
OMIM:130060	COL1A1	1277	HP:0000974	Hyperextensible skin
OMIM:130060	COL1A1	1277	HP:0001058	Poor wound healing
OMIM:130060	COL1A1	1277	HP:0000938	Osteopenia
OMIM:130060	COL1A1	1277	HP:0002650	Scoliosis
OMIM:130060	COL1A1	1277	HP:0011800	Midface retrusion
OMIM:130060	COL1A1	1277	HP:0000272	Malar flattening
OMIM:130060	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:130060	COL1A1	1277	HP:0001075	Atrophic scars
OMIM:130060	COL1A1	1277	HP:0001290	Generalized hypotonia
OMIM:130060	COL1A1	1277	HP:0008780	Congenital bilateral hip dislocation
OMIM:130060	COL1A1	1277	HP:0000977	Soft skin
OMIM:130060	COL1A1	1277	HP:0001623	Breech presentation
OMIM:130060	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:130060	COL1A2	1278	HP:0001388	Joint laxity
OMIM:130060	COL1A2	1278	HP:0003088	Premature osteoarthritis
OMIM:130060	COL1A2	1278	HP:0002194	Delayed gross motor development
OMIM:130060	COL1A2	1278	HP:0002659	Increased susceptibility to fractures
OMIM:130060	COL1A2	1278	HP:0003502	Mild short stature
OMIM:130060	COL1A2	1278	HP:0002808	Kyphosis
OMIM:130060	COL1A2	1278	HP:0000974	Hyperextensible skin
OMIM:130060	COL1A2	1278	HP:0001058	Poor wound healing
OMIM:130060	COL1A2	1278	HP:0000938	Osteopenia
OMIM:130060	COL1A2	1278	HP:0002650	Scoliosis
OMIM:130060	COL1A2	1278	HP:0011800	Midface retrusion
OMIM:130060	COL1A2	1278	HP:0000272	Malar flattening
OMIM:130060	COL1A2	1278	HP:0000978	Bruising susceptibility
OMIM:130060	COL1A2	1278	HP:0001075	Atrophic scars
OMIM:130060	COL1A2	1278	HP:0001290	Generalized hypotonia
OMIM:130060	COL1A2	1278	HP:0008780	Congenital bilateral hip dislocation
OMIM:130060	COL1A2	1278	HP:0000977	Soft skin
OMIM:130060	COL1A2	1278	HP:0001623	Breech presentation
OMIM:130060	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
ORPHA:273	DMPK	1760	HP:0011362	Abnormal hair quantity
ORPHA:273	DMPK	1760	HP:0003457	EMG abnormality
ORPHA:273	DMPK	1760	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:273	DMPK	1760	HP:0001252	Muscular hypotonia
ORPHA:273	DMPK	1760	HP:0000029	Testicular atrophy
ORPHA:273	DMPK	1760	HP:0000818	Abnormality of the endocrine system
ORPHA:273	DMPK	1760	HP:0010864	Intellectual disability, severe
ORPHA:273	DMPK	1760	HP:0002098	Respiratory distress
ORPHA:273	DMPK	1760	HP:0010628	Facial palsy
ORPHA:273	DMPK	1760	HP:0011705	First degree atrioventricular block
ORPHA:273	DMPK	1760	HP:0006887	Intellectual disability, progressive
ORPHA:273	DMPK	1760	HP:0000298	Mask-like facies
ORPHA:273	DMPK	1760	HP:0001276	Hypertonia
ORPHA:273	DMPK	1760	HP:0003202	Skeletal muscle atrophy
ORPHA:273	DMPK	1760	HP:0000518	Cataract
ORPHA:273	DMPK	1760	HP:0002486	Myotonia
OMIM:603592	MOCOS	55034	HP:0003537	Hypouricemia
OMIM:603592	MOCOS	55034	HP:0000007	Autosomal recessive inheritance
OMIM:615188	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:231900	GSS	2937	HP:0001878	Hemolytic anemia
OMIM:231900	GSS	2937	HP:0003258	Glyoxalase deficiency
OMIM:231900	GSS	2937	HP:0003343	Glutathione synthetase deficiency
OMIM:231900	GSS	2937	HP:0000007	Autosomal recessive inheritance
OMIM:613908	TGM6	343641	HP:0003677	Slow progression
OMIM:613908	TGM6	343641	HP:0000006	Autosomal dominant inheritance
OMIM:613908	TGM6	343641	HP:0002355	Difficulty walking
OMIM:613908	TGM6	343641	HP:0001272	Cerebellar atrophy
OMIM:613908	TGM6	343641	HP:0002080	Intention tremor
OMIM:613908	TGM6	343641	HP:0001310	Dysmetria
OMIM:613908	TGM6	343641	HP:0003581	Adult onset
OMIM:613908	TGM6	343641	HP:0000473	Torticollis
OMIM:613908	TGM6	343641	HP:0002311	Incoordination
OMIM:613908	TGM6	343641	HP:0001347	Hyperreflexia
OMIM:613908	TGM6	343641	HP:0000315	Abnormality of the orbital region
OMIM:613908	TGM6	343641	HP:0000467	Neck muscle weakness
OMIM:613908	TGM6	343641	HP:0001260	Dysarthria
OMIM:613908	TGM6	343641	HP:0003487	Babinski sign
OMIM:616354	SNX14	57231	HP:0000343	Long philtrum
OMIM:616354	SNX14	57231	HP:0002120	Cerebral cortical atrophy
OMIM:616354	SNX14	57231	HP:0012810	Wide nasal base
OMIM:616354	SNX14	57231	HP:0003593	Infantile onset
OMIM:616354	SNX14	57231	HP:0011220	Prominent forehead
OMIM:616354	SNX14	57231	HP:0012471	Thick vermilion border
OMIM:616354	SNX14	57231	HP:0001272	Cerebellar atrophy
OMIM:616354	SNX14	57231	HP:0001762	Talipes equinovarus
OMIM:616354	SNX14	57231	HP:0000289	Broad philtrum
OMIM:616354	SNX14	57231	HP:0002186	Apraxia
OMIM:616354	SNX14	57231	HP:0004482	Relative macrocephaly
OMIM:616354	SNX14	57231	HP:0000280	Coarse facial features
OMIM:616354	SNX14	57231	HP:0000463	Anteverted nares
OMIM:616354	SNX14	57231	HP:0001290	Generalized hypotonia
OMIM:616354	SNX14	57231	HP:0001265	Hyporeflexia
OMIM:616354	SNX14	57231	HP:0000678	Dental crowding
OMIM:616354	SNX14	57231	HP:0000283	Broad face
OMIM:616354	SNX14	57231	HP:0000218	High palate
OMIM:616354	SNX14	57231	HP:0012745	Short palpebral fissure
OMIM:616354	SNX14	57231	HP:0000729	Autistic behavior
OMIM:616354	SNX14	57231	HP:0000684	Delayed eruption of teeth
OMIM:616354	SNX14	57231	HP:0000007	Autosomal recessive inheritance
OMIM:616354	SNX14	57231	HP:0000286	Epicanthus
OMIM:616354	SNX14	57231	HP:0002540	Inability to walk
OMIM:616354	SNX14	57231	HP:0001263	Global developmental delay
OMIM:616354	SNX14	57231	HP:0001156	Brachydactyly
OMIM:616354	SNX14	57231	HP:0001321	Cerebellar hypoplasia
OMIM:616354	SNX14	57231	HP:0003487	Babinski sign
OMIM:616354	SNX14	57231	HP:0001257	Spasticity
OMIM:616354	SNX14	57231	HP:0001251	Ataxia
OMIM:616354	SNX14	57231	HP:0012385	Camptodactyly
OMIM:616354	SNX14	57231	HP:0030084	Clinodactyly
ORPHA:56	HGD	3081	HP:0002758	Osteoarthritis
ORPHA:56	HGD	3081	HP:0000364	Hearing abnormality
ORPHA:56	HGD	3081	HP:0000787	Nephrolithiasis
ORPHA:56	HGD	3081	HP:0007400	Irregular hyperpigmentation
ORPHA:56	HGD	3081	HP:0100773	Cartilage destruction
ORPHA:56	HGD	3081	HP:0002829	Arthralgia
ORPHA:56	HGD	3081	HP:0000504	Abnormality of vision
ORPHA:56	HGD	3081	HP:0004382	Mitral valve calcification
ORPHA:56	HGD	3081	HP:0001386	Joint swelling
ORPHA:56	HGD	3081	HP:0003355	Aminoaciduria
ORPHA:56	HGD	3081	HP:0001387	Joint stiffness
ORPHA:56	HGD	3081	HP:0000592	Blue sclerae
ORPHA:56	HGD	3081	HP:0004690	Thickened Achilles tendon
ORPHA:56	HGD	3081	HP:0005645	Intervertebral disk calcification
ORPHA:56	HGD	3081	HP:0000366	Abnormality of the nose
ORPHA:56	HGD	3081	HP:0004380	Aortic valve calcification
ORPHA:56	HGD	3081	HP:0100550	Tendon rupture
ORPHA:56	HGD	3081	HP:0001717	Coronary artery calcification
ORPHA:56	HGD	3081	HP:0001369	Arthritis
ORPHA:56	HGD	3081	HP:0001373	Joint dislocation
ORPHA:56	HGD	3081	HP:0000024	Prostatitis
ORPHA:56	HGD	3081	HP:0001597	Abnormality of the nail
ORPHA:56	HGD	3081	HP:0100593	Calcification of cartilage
ORPHA:530	ECM1	1893	HP:0000199	Tongue nodules
ORPHA:530	ECM1	1893	HP:0000168	Abnormality of the gingiva
ORPHA:530	ECM1	1893	HP:0000171	Microglossia
ORPHA:530	ECM1	1893	HP:0200043	Verrucae
ORPHA:530	ECM1	1893	HP:0002293	Alopecia of scalp
ORPHA:530	ECM1	1893	HP:0001609	Hoarse voice
ORPHA:530	ECM1	1893	HP:0002205	Recurrent respiratory infections
ORPHA:530	ECM1	1893	HP:0200039	Pustule
ORPHA:530	ECM1	1893	HP:0000218	High palate
ORPHA:530	ECM1	1893	HP:0200034	Papule
ORPHA:530	ECM1	1893	HP:0002015	Dysphagia
ORPHA:530	ECM1	1893	HP:0100699	Scarring
ORPHA:530	ECM1	1893	HP:0001061	Acne
ORPHA:530	ECM1	1893	HP:0000962	Hyperkeratosis
ORPHA:530	ECM1	1893	HP:0000179	Thick lower lip vermilion
ORPHA:530	ECM1	1893	HP:0001482	Subcutaneous nodule
ORPHA:530	ECM1	1893	HP:0001332	Dystonia
ORPHA:530	ECM1	1893	HP:0008066	Abnormal blistering of the skin
ORPHA:2508	ARX	170302	HP:0000252	Microcephaly
ORPHA:2508	ARX	170302	HP:0000639	Nystagmus
ORPHA:2508	ARX	170302	HP:0010864	Intellectual disability, severe
ORPHA:2508	ARX	170302	HP:0000280	Coarse facial features
ORPHA:2508	ARX	170302	HP:0003272	Abnormality of the hip bone
ORPHA:2508	ARX	170302	HP:0000411	Protruding ear
ORPHA:2508	ARX	170302	HP:0000486	Strabismus
ORPHA:2508	ARX	170302	HP:0001257	Spasticity
ORPHA:2508	ARX	170302	HP:0002230	Generalized hirsutism
ORPHA:2508	ARX	170302	HP:0001274	Agenesis of corpus callosum
ORPHA:2508	ARX	170302	HP:0011344	Severe global developmental delay
ORPHA:2508	ARX	170302	HP:0004322	Short stature
ORPHA:2508	ARX	170302	HP:0002650	Scoliosis
ORPHA:2508	ARX	170302	HP:0001250	Seizures
ORPHA:2508	ARX	170302	HP:0010720	Abnormal hair pattern
OMIM:314400	FLNA	2316	HP:0011580	Short chordae tendineae of the mitral valve
OMIM:314400	FLNA	2316	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:314400	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:314400	FLNA	2316	HP:0001653	Mitral regurgitation
OMIM:314400	FLNA	2316	HP:0005180	Tricuspid regurgitation
OMIM:314400	FLNA	2316	HP:0006692	Short chordae tendineae of the tricuspid valve
OMIM:314400	FLNA	2316	HP:0001659	Aortic regurgitation
OMIM:314400	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:314400	FLNA	2316	HP:0001635	Congestive heart failure
OMIM:610536	EFTUD2	9343	HP:0001177	Preaxial hand polydactyly
OMIM:610536	EFTUD2	9343	HP:0011800	Midface retrusion
OMIM:610536	EFTUD2	9343	HP:0000347	Micrognathia
OMIM:610536	EFTUD2	9343	HP:0000286	Epicanthus
OMIM:610536	EFTUD2	9343	HP:0000252	Microcephaly
OMIM:610536	EFTUD2	9343	HP:0000396	Overfolded helix
OMIM:610536	EFTUD2	9343	HP:0005321	Mandibulofacial dysostosis
OMIM:610536	EFTUD2	9343	HP:0000750	Delayed speech and language development
OMIM:610536	EFTUD2	9343	HP:0008872	Feeding difficulties in infancy
OMIM:610536	EFTUD2	9343	HP:0000384	Preauricular skin tag
OMIM:610536	EFTUD2	9343	HP:0000405	Conductive hearing impairment
OMIM:610536	EFTUD2	9343	HP:0001631	Atrial septal defect
OMIM:610536	EFTUD2	9343	HP:0001263	Global developmental delay
OMIM:610536	EFTUD2	9343	HP:0000369	Low-set ears
OMIM:610536	EFTUD2	9343	HP:0000453	Choanal atresia
OMIM:610536	EFTUD2	9343	HP:0000463	Anteverted nares
OMIM:610536	EFTUD2	9343	HP:0003196	Short nose
OMIM:610536	EFTUD2	9343	HP:0000006	Autosomal dominant inheritance
OMIM:610536	EFTUD2	9343	HP:0002002	Deep philtrum
OMIM:610536	EFTUD2	9343	HP:0000506	Telecanthus
OMIM:610536	EFTUD2	9343	HP:0000175	Cleft palate
OMIM:610536	EFTUD2	9343	HP:0004322	Short stature
OMIM:610536	EFTUD2	9343	HP:0000243	Trigonocephaly
OMIM:610536	EFTUD2	9343	HP:0000494	Downslanted palpebral fissures
OMIM:610536	EFTUD2	9343	HP:0000272	Malar flattening
OMIM:610536	EFTUD2	9343	HP:0000413	Atresia of the external auditory canal
OMIM:610536	EFTUD2	9343	HP:0008551	Microtia
OMIM:610536	EFTUD2	9343	HP:0002098	Respiratory distress
OMIM:610536	EFTUD2	9343	HP:0000007	Autosomal recessive inheritance
OMIM:610536	EFTUD2	9343	HP:0000582	Upslanted palpebral fissure
OMIM:610536	EFTUD2	9343	HP:0001238	Slender finger
OMIM:610536	EFTUD2	9343	HP:0000253	Progressive microcephaly
OMIM:614583	ACTG1	71	HP:0000219	Thin upper lip vermilion
OMIM:614583	ACTG1	71	HP:0000307	Pointed chin
OMIM:614583	ACTG1	71	HP:0000377	Abnormality of the pinna
OMIM:614583	ACTG1	71	HP:0000343	Long philtrum
OMIM:614583	ACTG1	71	HP:0000637	Long palpebral fissure
OMIM:614583	ACTG1	71	HP:0000154	Wide mouth
OMIM:616367	EDNRA	1909	HP:0000175	Cleft palate
OMIM:616367	EDNRA	1909	HP:0000653	Sparse eyelashes
OMIM:616367	EDNRA	1909	HP:0005321	Mandibulofacial dysostosis
OMIM:616367	EDNRA	1909	HP:0000535	Sparse and thin eyebrow
OMIM:616367	EDNRA	1909	HP:0000402	Stenosis of the external auditory canal
OMIM:616367	EDNRA	1909	HP:0000347	Micrognathia
OMIM:616367	EDNRA	1909	HP:0000369	Low-set ears
OMIM:616367	EDNRA	1909	HP:0000378	Cupped ear
OMIM:616367	EDNRA	1909	HP:0000411	Protruding ear
OMIM:616367	EDNRA	1909	HP:0000431	Wide nasal bridge
OMIM:616367	EDNRA	1909	HP:0000324	Facial asymmetry
OMIM:616367	EDNRA	1909	HP:0000680	Delayed eruption of primary teeth
OMIM:616367	EDNRA	1909	HP:0000327	Hypoplasia of the maxilla
OMIM:616367	EDNRA	1909	HP:0000405	Conductive hearing impairment
OMIM:616367	EDNRA	1909	HP:0000006	Autosomal dominant inheritance
OMIM:616367	EDNRA	1909	HP:0000232	Everted lower lip vermilion
OMIM:616367	EDNRA	1909	HP:0000211	Trismus
OMIM:616367	EDNRA	1909	HP:0000678	Dental crowding
ORPHA:398189	CYP26C1	340665	HP:0000175	Cleft palate
ORPHA:398189	CYP26C1	340665	HP:0025167	Fragmented elastic fibers in the dermis
ORPHA:398189	CYP26C1	340665	HP:0000331	Short chin
ORPHA:398189	CYP26C1	340665	HP:0001269	Hemiparesis
ORPHA:398189	CYP26C1	340665	HP:0008066	Abnormal blistering of the skin
ORPHA:398189	CYP26C1	340665	HP:0002170	Intracranial hemorrhage
ORPHA:398189	CYP26C1	340665	HP:0100699	Scarring
ORPHA:398189	CYP26C1	340665	HP:0011124	Abnormality of epidermal morphology
ORPHA:398189	CYP26C1	340665	HP:0000204	Cleft upper lip
ORPHA:398189	CYP26C1	340665	HP:0007359	Focal seizures
ORPHA:398189	CYP26C1	340665	HP:0001028	Hemangioma
ORPHA:398189	CYP26C1	340665	HP:0003764	Nevus
ORPHA:398189	CYP26C1	340665	HP:0100494	Abnormal mast cell morphology
ORPHA:398189	CYP26C1	340665	HP:3000019	Abnormality of buccal mucosa
ORPHA:398189	CYP26C1	340665	HP:0000238	Hydrocephalus
ORPHA:398189	CYP26C1	340665	HP:0000252	Microcephaly
OMIM:615414	PHC1	1911	HP:0000252	Microcephaly
OMIM:615414	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:615414	PHC1	1911	HP:0004322	Short stature
OMIM:245050	OXCT1	5019	HP:0002789	Tachypnea
OMIM:245050	OXCT1	5019	HP:0000007	Autosomal recessive inheritance
OMIM:245050	OXCT1	5019	HP:0005974	Episodic ketoacidosis
OMIM:245050	OXCT1	5019	HP:0002919	Ketonuria
OMIM:245050	OXCT1	5019	HP:0002013	Vomiting
OMIM:611102	CATSPER2	117155	HP:0012207	Reduced sperm motility
OMIM:611102	CATSPER2	117155	HP:0000007	Autosomal recessive inheritance
OMIM:611102	CATSPER2	117155	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:611102	CATSPER2	117155	HP:0003251	Male infertility
OMIM:611102	CATSPER2	117155	HP:0008669	Abnormal spermatogenesis
OMIM:611102	STRC	161497	HP:0012207	Reduced sperm motility
OMIM:611102	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:611102	STRC	161497	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:611102	STRC	161497	HP:0003251	Male infertility
OMIM:611102	STRC	161497	HP:0008669	Abnormal spermatogenesis
OMIM:616789	MED13L	23389	HP:0000311	Round face
OMIM:616789	MED13L	23389	HP:0000717	Autism
OMIM:616789	MED13L	23389	HP:0003593	Infantile onset
OMIM:616789	MED13L	23389	HP:0000006	Autosomal dominant inheritance
OMIM:616789	MED13L	23389	HP:0000341	Narrow forehead
OMIM:616789	MED13L	23389	HP:0000589	Coloboma
OMIM:616789	MED13L	23389	HP:0000400	Macrotia
OMIM:616789	MED13L	23389	HP:0000194	Open mouth
OMIM:616789	MED13L	23389	HP:0000232	Everted lower lip vermilion
OMIM:616789	MED13L	23389	HP:0000248	Brachycephaly
OMIM:616789	MED13L	23389	HP:0000414	Bulbous nose
OMIM:616789	MED13L	23389	HP:0001270	Motor delay
OMIM:616789	MED13L	23389	HP:0001251	Ataxia
OMIM:616789	MED13L	23389	HP:0001655	Patent foramen ovale
OMIM:616789	MED13L	23389	HP:0005280	Depressed nasal bridge
OMIM:616789	MED13L	23389	HP:0030084	Clinodactyly
OMIM:616789	MED13L	23389	HP:0000582	Upslanted palpebral fissure
OMIM:616789	MED13L	23389	HP:0000316	Hypertelorism
OMIM:616789	MED13L	23389	HP:0000486	Strabismus
OMIM:616789	MED13L	23389	HP:0011220	Prominent forehead
OMIM:616789	MED13L	23389	HP:0000158	Macroglossia
OMIM:616789	MED13L	23389	HP:0001260	Dysarthria
OMIM:616789	MED13L	23389	HP:0001263	Global developmental delay
OMIM:616789	MED13L	23389	HP:0000028	Cryptorchidism
OMIM:616789	MED13L	23389	HP:0002719	Recurrent infections
OMIM:616789	MED13L	23389	HP:0001290	Generalized hypotonia
OMIM:616789	MED13L	23389	HP:0002007	Frontal bossing
OMIM:616789	MED13L	23389	HP:0000325	Triangular face
OMIM:616789	MED13L	23389	HP:0002465	Poor speech
OMIM:616789	MED13L	23389	HP:0000470	Short neck
OMIM:616789	MED13L	23389	HP:0002342	Intellectual disability, moderate
OMIM:616789	MED13L	23389	HP:0000154	Wide mouth
OMIM:616789	MED13L	23389	HP:0000369	Low-set ears
OMIM:616789	MED13L	23389	HP:0001357	Plagiocephaly
ORPHA:83461	FOXE3	2301	HP:0007973	Retinal dysplasia
ORPHA:83461	FOXE3	2301	HP:0000647	Sclerocornea
ORPHA:83461	FOXE3	2301	HP:0000568	Microphthalmia
ORPHA:83461	FOXE3	2301	HP:0007707	Congenital primary aphakia
ORPHA:83461	FOXE3	2301	HP:0000504	Abnormality of vision
ORPHA:1173	PNPLA6	10908	HP:0001251	Ataxia
ORPHA:1173	PNPLA6	10908	HP:0000648	Optic atrophy
ORPHA:1173	PNPLA6	10908	HP:0002167	Neurological speech impairment
ORPHA:1173	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:1173	PNPLA6	10908	HP:0004374	Hemiplegia/hemiparesis
ORPHA:1173	PNPLA6	10908	HP:0000144	Decreased fertility
ORPHA:1173	PNPLA6	10908	HP:0000771	Gynecomastia
ORPHA:1173	PNPLA6	10908	HP:0001252	Muscular hypotonia
ORPHA:1173	PNPLA6	10908	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:1173	PNPLA6	10908	HP:0000512	Abnormal electroretinogram
ORPHA:1173	PNPLA6	10908	HP:0000639	Nystagmus
ORPHA:1173	PNPLA6	10908	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1173	RNF216	54476	HP:0001251	Ataxia
ORPHA:1173	RNF216	54476	HP:0000648	Optic atrophy
ORPHA:1173	RNF216	54476	HP:0002167	Neurological speech impairment
ORPHA:1173	RNF216	54476	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:1173	RNF216	54476	HP:0004374	Hemiplegia/hemiparesis
ORPHA:1173	RNF216	54476	HP:0000144	Decreased fertility
ORPHA:1173	RNF216	54476	HP:0000771	Gynecomastia
ORPHA:1173	RNF216	54476	HP:0001252	Muscular hypotonia
ORPHA:1173	RNF216	54476	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:1173	RNF216	54476	HP:0000512	Abnormal electroretinogram
ORPHA:1173	RNF216	54476	HP:0000639	Nystagmus
ORPHA:1173	RNF216	54476	HP:0007703	Abnormality of retinal pigmentation
OMIM:613391	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613391	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613391	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:613391	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:613391	PTPRQ	374462	HP:0001270	Motor delay
OMIM:227645	FANCC	2176	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCC	2176	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCC	2176	HP:0000104	Renal agenesis
OMIM:227645	FANCC	2176	HP:0001249	Intellectual disability
OMIM:227645	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCC	2176	HP:0001909	Leukemia
OMIM:227645	FANCC	2176	HP:0000086	Ectopic kidney
OMIM:227645	FANCC	2176	HP:0000568	Microphthalmia
OMIM:227645	FANCC	2176	HP:0009777	Absent thumb
OMIM:227645	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:227645	FANCC	2176	HP:0000486	Strabismus
OMIM:227645	FANCC	2176	HP:0001875	Neutropenia
OMIM:227645	FANCC	2176	HP:0003974	Absent radius
OMIM:227645	FANCC	2176	HP:0009778	Short thumb
OMIM:227645	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:227645	FANCC	2176	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCC	2176	HP:0000081	Duplicated collecting system
OMIM:227645	FANCC	2176	HP:0000365	Hearing impairment
OMIM:227645	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCC	2176	HP:0000252	Microcephaly
OMIM:227645	FANCC	2176	HP:0001896	Reticulocytopenia
OMIM:227645	FANCC	2176	HP:0000978	Bruising susceptibility
OMIM:227645	FANCC	2176	HP:0001876	Pancytopenia
OMIM:227645	FANCC	2176	HP:0001627	Abnormal heart morphology
OMIM:227645	FANCC	2176	HP:0001017	Anemic pallor
OMIM:227645	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:227645	FANCC	2176	HP:0004322	Short stature
OMIM:227645	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCC	2176	HP:0001903	Anemia
OMIM:227645	FANCC	2176	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCC	2176	HP:0001518	Small for gestational age
OMIM:227645	FANCC	2176	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:256450	ABCC8	6833	HP:0001520	Large for gestational age
OMIM:256450	ABCC8	6833	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:256450	ABCC8	6833	HP:0001425	Heterogeneous
OMIM:256450	ABCC8	6833	HP:0000007	Autosomal recessive inheritance
OMIM:256450	ABCC8	6833	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:256450	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:256450	ABCC8	6833	HP:0002173	Hypoglycemic seizures
OMIM:256450	ABCC8	6833	HP:0001249	Intellectual disability
OMIM:256450	ABCC8	6833	HP:0001325	Hypoglycemic coma
OMIM:609218	SLC38A8	146167	HP:0007663	Reduced visual acuity
OMIM:609218	SLC38A8	146167	HP:0007750	Hypoplasia of the fovea
OMIM:609218	SLC38A8	146167	HP:0000007	Autosomal recessive inheritance
OMIM:609218	SLC38A8	146167	HP:0000505	Visual impairment
OMIM:609218	SLC38A8	146167	HP:0000639	Nystagmus
OMIM:211750	CD96	10225	HP:0000243	Trigonocephaly
OMIM:211750	CD96	10225	HP:0002650	Scoliosis
OMIM:211750	CD96	10225	HP:0001508	Failure to thrive
OMIM:211750	CD96	10225	HP:0001539	Omphalocele
OMIM:211750	CD96	10225	HP:0001830	Postaxial foot polydactyly
OMIM:211750	CD96	10225	HP:0000286	Epicanthus
OMIM:211750	CD96	10225	HP:0010049	Short metacarpal
OMIM:211750	CD96	10225	HP:0000007	Autosomal recessive inheritance
OMIM:211750	CD96	10225	HP:0001629	Ventricular septal defect
OMIM:211750	CD96	10225	HP:0009100	Thick anterior alveolar ridges
OMIM:211750	CD96	10225	HP:0001770	Toe syndactyly
OMIM:211750	CD96	10225	HP:0002827	Hip dislocation
OMIM:211750	CD96	10225	HP:0009465	Ulnar deviation of finger
OMIM:211750	CD96	10225	HP:0001263	Global developmental delay
OMIM:211750	CD96	10225	HP:0000431	Wide nasal bridge
OMIM:211750	CD96	10225	HP:0003083	Dislocated radial head
OMIM:211750	CD96	10225	HP:0003196	Short nose
OMIM:211750	CD96	10225	HP:0000803	Renal cortical cysts
OMIM:211750	CD96	10225	HP:0001162	Postaxial hand polydactyly
OMIM:211750	CD96	10225	HP:0000028	Cryptorchidism
OMIM:211750	CD96	10225	HP:0000218	High palate
OMIM:211750	CD96	10225	HP:0001643	Patent ductus arteriosus
OMIM:211750	CD96	10225	HP:0000358	Posteriorly rotated ears
OMIM:211750	CD96	10225	HP:0002240	Hepatomegaly
OMIM:211750	CD96	10225	HP:0000154	Wide mouth
OMIM:211750	CD96	10225	HP:0000582	Upslanted palpebral fissure
OMIM:211750	CD96	10225	HP:0030084	Clinodactyly
OMIM:211750	CD96	10225	HP:0006643	Fused sternal ossification centers
OMIM:211750	CD96	10225	HP:0000369	Low-set ears
OMIM:211750	CD96	10225	HP:0000252	Microcephaly
OMIM:211750	CD96	10225	HP:0002750	Delayed skeletal maturation
OMIM:211750	CD96	10225	HP:0000463	Anteverted nares
OMIM:211750	CD96	10225	HP:0000486	Strabismus
OMIM:211750	CD96	10225	HP:0001290	Generalized hypotonia
OMIM:211750	CD96	10225	HP:0009466	Radial deviation of finger
OMIM:211750	CD96	10225	HP:0001250	Seizures
OMIM:211750	CD96	10225	HP:0002983	Micromelia
OMIM:211750	CD96	10225	HP:0008665	Clitoral hypertrophy
OMIM:211750	CD96	10225	HP:0000973	Cutis laxa
OMIM:211750	CD96	10225	HP:0000347	Micrognathia
OMIM:211750	CD96	10225	HP:0000191	Accessory oral frenulum
OMIM:211750	CD96	10225	HP:0004322	Short stature
OMIM:276600	TAT	6898	HP:0001249	Intellectual disability
OMIM:276600	TAT	6898	HP:0007812	Herpetiform corneal ulceration
OMIM:276600	TAT	6898	HP:0000007	Autosomal recessive inheritance
OMIM:276600	TAT	6898	HP:0001510	Growth delay
OMIM:276600	TAT	6898	HP:0000951	Abnormality of the skin
OMIM:276600	TAT	6898	HP:0003231	Hypertyrosinemia
OMIM:276600	TAT	6898	HP:0003161	4-Hydroxyphenylpyruvic aciduria
ORPHA:199343	KCNJ10	3766	HP:0012103	Abnormality of the mitochondrion
ORPHA:199343	KCNJ10	3766	HP:0001263	Global developmental delay
ORPHA:199343	KCNJ10	3766	HP:0001251	Ataxia
ORPHA:199343	KCNJ10	3766	HP:0000091	Abnormality of the renal tubule
ORPHA:199343	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
ORPHA:199343	KCNJ10	3766	HP:0001250	Seizures
ORPHA:199343	KCNJ10	3766	HP:0002342	Intellectual disability, moderate
ORPHA:199343	KCNJ10	3766	HP:0001508	Failure to thrive
ORPHA:90793	CYP17A1	1586	HP:0000054	Micropenis
ORPHA:90793	CYP17A1	1586	HP:0000823	Delayed puberty
ORPHA:90793	CYP17A1	1586	HP:0000028	Cryptorchidism
ORPHA:90793	CYP17A1	1586	HP:0000013	Hypoplasia of the uterus
ORPHA:90793	CYP17A1	1586	HP:0003115	Abnormal EKG
ORPHA:90793	CYP17A1	1586	HP:0040171	Decreased serum testosterone level
ORPHA:90793	CYP17A1	1586	HP:0008675	Enlarged polycystic ovaries
ORPHA:90793	CYP17A1	1586	HP:0008163	Decreased circulating cortisol level
ORPHA:90793	CYP17A1	1586	HP:0008726	Hypoplasia of the vagina
ORPHA:90793	CYP17A1	1586	HP:0000859	Hyperaldosteronism
ORPHA:90793	CYP17A1	1586	HP:0002616	Aortic root dilatation
ORPHA:90793	CYP17A1	1586	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:90793	CYP17A1	1586	HP:0011105	Hypervolemia
ORPHA:90793	CYP17A1	1586	HP:0000822	Hypertension
ORPHA:90793	CYP17A1	1586	HP:0012041	Decreased fertility in males
ORPHA:90793	CYP17A1	1586	HP:0008214	Decreased serum estradiol
ORPHA:90793	CYP17A1	1586	HP:0003154	Increased circulating ACTH level
ORPHA:90793	CYP17A1	1586	HP:0002215	Sparse axillary hair
ORPHA:90793	CYP17A1	1586	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:90793	CYP17A1	1586	HP:0000786	Primary amenorrhea
ORPHA:90793	CYP17A1	1586	HP:0004322	Short stature
ORPHA:90793	CYP17A1	1586	HP:0008193	Primary gonadal insufficiency
ORPHA:90793	CYP17A1	1586	HP:0007440	Generalized hyperpigmentation
ORPHA:90793	CYP17A1	1586	HP:0008187	Absence of secondary sex characteristics
ORPHA:90793	CYP17A1	1586	HP:0000047	Hypospadias
ORPHA:90793	CYP17A1	1586	HP:0002750	Delayed skeletal maturation
ORPHA:90793	CYP17A1	1586	HP:0002900	Hypokalemia
ORPHA:90793	CYP17A1	1586	HP:0012113	Abnormality of creatine metabolism
ORPHA:90793	CYP17A1	1586	HP:0002231	Sparse body hair
ORPHA:90793	CYP17A1	1586	HP:0003351	Decreased circulating renin level
ORPHA:90793	CYP17A1	1586	HP:0000868	Decreased fertility in females
ORPHA:90793	CYP17A1	1586	HP:0008734	Decreased testicular size
ORPHA:90793	CYP17A1	1586	HP:0008258	Congenital adrenal hyperplasia
ORPHA:90793	CYP17A1	1586	HP:0040085	Abnormal circulating aldosterone
ORPHA:90793	CYP17A1	1586	HP:0000939	Osteoporosis
ORPHA:90793	CYP17A1	1586	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:90793	CYP17A1	1586	HP:0002225	Sparse pubic hair
ORPHA:90793	CYP17A1	1586	HP:0100607	Dysmenorrhea
ORPHA:90793	CYP17A1	1586	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:1114	DLL4	54567	HP:0010301	Spinal dysraphism
ORPHA:1114	DLL4	54567	HP:0200042	Skin ulcer
ORPHA:1114	DLL4	54567	HP:0007383	Congenital localized absence of skin
ORPHA:1114	DLL4	54567	HP:0001362	Calvarial skull defect
ORPHA:1114	DLL4	54567	HP:0004471	Aplasia cutis congenita over the scalp vertex
ORPHA:1114	BMS1	9790	HP:0010301	Spinal dysraphism
ORPHA:1114	BMS1	9790	HP:0200042	Skin ulcer
ORPHA:1114	BMS1	9790	HP:0007383	Congenital localized absence of skin
ORPHA:1114	BMS1	9790	HP:0001362	Calvarial skull defect
ORPHA:1114	BMS1	9790	HP:0004471	Aplasia cutis congenita over the scalp vertex
OMIM:131900	KRT14	3861	HP:0000972	Palmoplantar hyperkeratosis
OMIM:131900	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131900	KRT14	3861	HP:0008066	Abnormal blistering of the skin
OMIM:131900	KRT5	3852	HP:0000972	Palmoplantar hyperkeratosis
OMIM:131900	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131900	KRT5	3852	HP:0008066	Abnormal blistering of the skin
OMIM:613956	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	IL17F	112744	HP:0000006	Autosomal dominant inheritance
OMIM:608013	GBA	2629	HP:0000325	Triangular face
OMIM:608013	GBA	2629	HP:0002179	Opisthotonus
OMIM:608013	GBA	2629	HP:0000316	Hypertelorism
OMIM:608013	GBA	2629	HP:0003196	Short nose
OMIM:608013	GBA	2629	HP:0001541	Ascites
OMIM:608013	GBA	2629	HP:0002119	Ventriculomegaly
OMIM:608013	GBA	2629	HP:0001561	Polyhydramnios
OMIM:608013	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:608013	GBA	2629	HP:0001622	Premature birth
OMIM:608013	GBA	2629	HP:0005257	Thoracic hypoplasia
OMIM:608013	GBA	2629	HP:0001790	Nonimmune hydrops fetalis
OMIM:608013	GBA	2629	HP:0001511	Intrauterine growth retardation
OMIM:608013	GBA	2629	HP:0002104	Apnea
OMIM:608013	GBA	2629	HP:0002240	Hepatomegaly
OMIM:608013	GBA	2629	HP:0000347	Micrognathia
OMIM:608013	GBA	2629	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:608013	GBA	2629	HP:0001744	Splenomegaly
OMIM:608013	GBA	2629	HP:0008551	Microtia
OMIM:608013	GBA	2629	HP:0000160	Narrow mouth
OMIM:608013	GBA	2629	HP:0001399	Hepatic failure
OMIM:608013	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:608013	GBA	2629	HP:0000278	Retrognathia
OMIM:608013	GBA	2629	HP:0000369	Low-set ears
OMIM:608013	GBA	2629	HP:0000741	Apathy
OMIM:608013	GBA	2629	HP:0001558	Decreased fetal movement
OMIM:608013	GBA	2629	HP:0002098	Respiratory distress
OMIM:608013	GBA	2629	HP:0010803	Everted upper lip vermilion
OMIM:608013	GBA	2629	HP:0000194	Open mouth
OMIM:608013	GBA	2629	HP:0002015	Dysphagia
OMIM:608013	GBA	2629	HP:0000232	Everted lower lip vermilion
OMIM:608013	GBA	2629	HP:0000967	Petechiae
OMIM:608013	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:608013	GBA	2629	HP:0003656	Decreased beta-glucocerebrosidase protein and activity
OMIM:608013	GBA	2629	HP:0002375	Hypokinesia
OMIM:608013	GBA	2629	HP:0000463	Anteverted nares
OMIM:608013	GBA	2629	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608013	GBA	2629	HP:0000962	Hyperkeratosis
OMIM:608013	GBA	2629	HP:0001250	Seizures
OMIM:608013	GBA	2629	HP:0001903	Anemia
OMIM:608013	GBA	2629	HP:0005280	Depressed nasal bridge
OMIM:608013	GBA	2629	HP:0007549	Desquamation of skin soon after birth
OMIM:608013	GBA	2629	HP:0000252	Microcephaly
OMIM:608013	GBA	2629	HP:0000486	Strabismus
OMIM:608013	GBA	2629	HP:0001640	Cardiomegaly
OMIM:608013	GBA	2629	HP:0002304	Akinesia
OMIM:609975	HADH	3033	HP:0001425	Heterogeneous
OMIM:609975	HADH	3033	HP:0002173	Hypoglycemic seizures
OMIM:609975	HADH	3033	HP:0001249	Intellectual disability
OMIM:609975	HADH	3033	HP:0001325	Hypoglycemic coma
OMIM:609975	HADH	3033	HP:0000007	Autosomal recessive inheritance
OMIM:609975	HADH	3033	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:300498	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300498	ZNF81	347344	HP:0004322	Short stature
OMIM:300498	ZNF81	347344	HP:0000411	Protruding ear
OMIM:300498	ZNF81	347344	HP:0000218	High palate
OMIM:300498	ZNF81	347344	HP:0000400	Macrotia
OMIM:300498	ZNF81	347344	HP:0000426	Prominent nasal bridge
OMIM:300498	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:607734	NEFL	4747	HP:0001265	Hyporeflexia
OMIM:607734	NEFL	4747	HP:0002460	Distal muscle weakness
OMIM:607734	NEFL	4747	HP:0000007	Autosomal recessive inheritance
OMIM:607734	NEFL	4747	HP:0003383	Onion bulb formation
OMIM:607734	NEFL	4747	HP:0003693	Distal amyotrophy
OMIM:607734	NEFL	4747	HP:0001270	Motor delay
OMIM:607734	NEFL	4747	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607734	NEFL	4747	HP:0003621	Juvenile onset
OMIM:607734	NEFL	4747	HP:0004336	Myelin outfoldings
OMIM:607734	NEFL	4747	HP:0003828	Variable expressivity
OMIM:607734	NEFL	4747	HP:0001425	Heterogeneous
OMIM:607734	NEFL	4747	HP:0001761	Pes cavus
OMIM:607734	NEFL	4747	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:607734	NEFL	4747	HP:0002936	Distal sensory impairment
OMIM:607734	NEFL	4747	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607734	NEFL	4747	HP:0000006	Autosomal dominant inheritance
OMIM:607734	NEFL	4747	HP:0001284	Areflexia
OMIM:607734	NEFL	4747	HP:0007233	Clusters of axonal regeneration
OMIM:615871	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:615871	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:615871	HCN1	348980	HP:0002373	Febrile seizures
OMIM:615871	HCN1	348980	HP:0000708	Behavioral abnormality
OMIM:615871	HCN1	348980	HP:0001249	Intellectual disability
ORPHA:85293	CUL4B	8450	HP:0002136	Broad-based gait
ORPHA:85293	CUL4B	8450	HP:0000179	Thick lower lip vermilion
ORPHA:85293	CUL4B	8450	HP:0010864	Intellectual disability, severe
ORPHA:85293	CUL4B	8450	HP:0000154	Wide mouth
ORPHA:85293	CUL4B	8450	HP:0004322	Short stature
ORPHA:85293	CUL4B	8450	HP:0008736	Hypoplasia of penis
ORPHA:85293	CUL4B	8450	HP:0000752	Hyperactivity
ORPHA:85293	CUL4B	8450	HP:0000218	High palate
ORPHA:85293	CUL4B	8450	HP:0002342	Intellectual disability, moderate
ORPHA:85293	CUL4B	8450	HP:0001344	Absent speech
ORPHA:85293	CUL4B	8450	HP:0001337	Tremor
ORPHA:85293	CUL4B	8450	HP:0000363	Abnormality of earlobe
ORPHA:85293	CUL4B	8450	HP:0004209	Clinodactyly of the 5th finger
ORPHA:85293	CUL4B	8450	HP:0000448	Prominent nose
ORPHA:85293	CUL4B	8450	HP:0001852	Sandal gap
ORPHA:85293	CUL4B	8450	HP:0004326	Cachexia
ORPHA:85293	CUL4B	8450	HP:0000322	Short philtrum
ORPHA:85293	CUL4B	8450	HP:0000023	Inguinal hernia
ORPHA:85293	CUL4B	8450	HP:0002650	Scoliosis
ORPHA:85293	CUL4B	8450	HP:0200021	Down-sloping shoulders
ORPHA:85293	CUL4B	8450	HP:0001761	Pes cavus
ORPHA:85293	CUL4B	8450	HP:0001773	Short foot
ORPHA:85293	CUL4B	8450	HP:0200055	Small hand
ORPHA:85293	CUL4B	8450	HP:0010807	Open bite
ORPHA:85293	CUL4B	8450	HP:0000470	Short neck
ORPHA:85293	CUL4B	8450	HP:0000256	Macrocephaly
ORPHA:85293	CUL4B	8450	HP:0008734	Decreased testicular size
ORPHA:85293	CUL4B	8450	HP:0000581	Blepharophimosis
ORPHA:85293	CUL4B	8450	HP:0000664	Synophrys
ORPHA:85293	CUL4B	8450	HP:0004279	Short palm
ORPHA:85293	CUL4B	8450	HP:0010720	Abnormal hair pattern
ORPHA:85293	CUL4B	8450	HP:0000494	Downslanted palpebral fissures
ORPHA:85293	CUL4B	8450	HP:0000718	Aggressive behavior
ORPHA:85293	CUL4B	8450	HP:0001513	Obesity
OMIM:148300	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:148300	VSX1	30813	HP:0000563	Keratoconus
OMIM:148300	VSX1	30813	HP:0000483	Astigmatism
OMIM:148300	VSX1	30813	HP:0011462	Young adult onset
OMIM:148300	VSX1	30813	HP:0001425	Heterogeneous
OMIM:259700	TCIRG1	10312	HP:0001508	Failure to thrive
OMIM:259700	TCIRG1	10312	HP:0000670	Carious teeth
OMIM:259700	TCIRG1	10312	HP:0001744	Splenomegaly
OMIM:259700	TCIRG1	10312	HP:0002754	Osteomyelitis
OMIM:259700	TCIRG1	10312	HP:0004618	Sandwich appearance of vertebral bodies
OMIM:259700	TCIRG1	10312	HP:0002240	Hepatomegaly
OMIM:259700	TCIRG1	10312	HP:0000256	Macrocephaly
OMIM:259700	TCIRG1	10312	HP:0001425	Heterogeneous
OMIM:259700	TCIRG1	10312	HP:0011002	Osteopetrosis
OMIM:259700	TCIRG1	10312	HP:0000238	Hydrocephalus
OMIM:259700	TCIRG1	10312	HP:0001876	Pancytopenia
OMIM:259700	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:259700	TCIRG1	10312	HP:0002007	Frontal bossing
OMIM:259700	TCIRG1	10312	HP:0002812	Coxa vara
OMIM:259700	TCIRG1	10312	HP:0003015	Flared metaphysis
OMIM:259700	TCIRG1	10312	HP:0003155	Elevated alkaline phosphatase
OMIM:259700	TCIRG1	10312	HP:0007209	Facial paralysis
OMIM:259700	TCIRG1	10312	HP:0001250	Seizures
OMIM:259700	TCIRG1	10312	HP:0001903	Anemia
OMIM:259700	TCIRG1	10312	HP:0002756	Pathologic fracture
OMIM:259700	TCIRG1	10312	HP:0001281	Tetany
OMIM:259700	TCIRG1	10312	HP:0000648	Optic atrophy
OMIM:259700	TCIRG1	10312	HP:0000597	Ophthalmoparesis
OMIM:259700	TCIRG1	10312	HP:0010628	Facial palsy
OMIM:259700	TCIRG1	10312	HP:0000618	Blindness
OMIM:259700	TCIRG1	10312	HP:0000639	Nystagmus
OMIM:259700	TCIRG1	10312	HP:0000365	Hearing impairment
ORPHA:397	PTPN22	26191	HP:0002039	Anorexia
ORPHA:397	PTPN22	26191	HP:0001824	Weight loss
ORPHA:397	PTPN22	26191	HP:0001387	Joint stiffness
ORPHA:397	PTPN22	26191	HP:0001596	Alopecia
ORPHA:397	PTPN22	26191	HP:0012378	Fatigue
ORPHA:397	PTPN22	26191	HP:0002315	Headache
ORPHA:397	PTPN22	26191	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:397	PTPN22	26191	HP:0002633	Vasculitis
ORPHA:397	PTPN22	26191	HP:0001945	Fever
ORPHA:397	PTPN22	26191	HP:0001369	Arthritis
ORPHA:397	PTPN22	26191	HP:0005216	Chewing difficulties
ORPHA:397	PTPN22	26191	HP:0002637	Cerebral ischemia
ORPHA:397	PTPN22	26191	HP:0000505	Visual impairment
ORPHA:397	PTPN22	26191	HP:0000597	Ophthalmoparesis
ORPHA:397	PTPN22	26191	HP:0000716	Depressivity
OMIM:608361	ACAN	176	HP:0002970	Genu varum
OMIM:608361	ACAN	176	HP:0003508	Proportionate short stature
OMIM:608361	ACAN	176	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:608361	ACAN	176	HP:0002750	Delayed skeletal maturation
OMIM:608361	ACAN	176	HP:0003370	Flat capital femoral epiphysis
OMIM:608361	ACAN	176	HP:0000926	Platyspondyly
OMIM:608361	ACAN	176	HP:0002857	Genu valgum
OMIM:608361	ACAN	176	HP:0000006	Autosomal dominant inheritance
OMIM:300376	DMD	1756	HP:0003581	Adult onset
OMIM:300376	DMD	1756	HP:0001324	Muscle weakness
OMIM:300376	DMD	1756	HP:0011675	Arrhythmia
OMIM:300376	DMD	1756	HP:0001265	Hyporeflexia
OMIM:300376	DMD	1756	HP:0003560	Muscular dystrophy
OMIM:300376	DMD	1756	HP:0001638	Cardiomyopathy
OMIM:300376	DMD	1756	HP:0003326	Myalgia
OMIM:300376	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300376	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300376	DMD	1756	HP:0003707	Calf muscle pseudohypertrophy
OMIM:239850	ABCC9	10060	HP:0000527	Long eyelashes
OMIM:239850	ABCC9	10060	HP:0005129	Congenital hypertrophy of left ventricle
OMIM:239850	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:239850	ABCC9	10060	HP:0003300	Ovoid vertebral bodies
OMIM:239850	ABCC9	10060	HP:0000431	Wide nasal bridge
OMIM:239850	ABCC9	10060	HP:0001520	Large for gestational age
OMIM:239850	ABCC9	10060	HP:0005445	Widened posterior fossa
OMIM:239850	ABCC9	10060	HP:0011220	Prominent forehead
OMIM:239850	ABCC9	10060	HP:0002673	Coxa valga
OMIM:239850	ABCC9	10060	HP:0008822	Hypoplastic ischiopubic rami
OMIM:239850	ABCC9	10060	HP:0010109	Short hallux
OMIM:239850	ABCC9	10060	HP:0000939	Osteoporosis
OMIM:239850	ABCC9	10060	HP:0001647	Bicuspid aortic valve
OMIM:239850	ABCC9	10060	HP:0000212	Gingival overgrowth
OMIM:239850	ABCC9	10060	HP:0000286	Epicanthus
OMIM:239850	ABCC9	10060	HP:0001640	Cardiomegaly
OMIM:239850	ABCC9	10060	HP:0001643	Patent ductus arteriosus
OMIM:239850	ABCC9	10060	HP:0004634	Cuboid-shaped vertebral bodies
OMIM:239850	ABCC9	10060	HP:0001698	Pericardial effusion
OMIM:239850	ABCC9	10060	HP:0010055	Broad hallux
OMIM:239850	ABCC9	10060	HP:0004540	Congenital, generalized hypertrichosis
OMIM:239850	ABCC9	10060	HP:0000463	Anteverted nares
OMIM:239850	ABCC9	10060	HP:0000926	Platyspondyly
OMIM:239850	ABCC9	10060	HP:0005280	Depressed nasal bridge
OMIM:239850	ABCC9	10060	HP:0001256	Intellectual disability, mild
OMIM:239850	ABCC9	10060	HP:0003016	Metaphyseal widening
OMIM:239850	ABCC9	10060	HP:0004975	Erlenmeyer flask deformity of the femurs
OMIM:239850	ABCC9	10060	HP:0000179	Thick lower lip vermilion
OMIM:239850	ABCC9	10060	HP:0000774	Narrow chest
OMIM:239850	ABCC9	10060	HP:0000215	Thick upper lip vermilion
OMIM:239850	ABCC9	10060	HP:0010068	Broad first metatarsal
OMIM:239850	ABCC9	10060	HP:0001004	Lymphedema
OMIM:239850	ABCC9	10060	HP:0001537	Umbilical hernia
OMIM:239850	ABCC9	10060	HP:0000470	Short neck
OMIM:239850	ABCC9	10060	HP:0000280	Coarse facial features
OMIM:239850	ABCC9	10060	HP:0000256	Macrocephaly
OMIM:239850	ABCC9	10060	HP:0000343	Long philtrum
OMIM:239850	ABCC9	10060	HP:0007665	Curly eyelashes
OMIM:239850	ABCC9	10060	HP:0002750	Delayed skeletal maturation
OMIM:239850	ABCC9	10060	HP:0002690	Large sella turcica
OMIM:607482	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:607482	CSRP3	8048	HP:0006670	Impaired myocardial contractility
OMIM:607482	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:607482	CSRP3	8048	HP:0001706	Endocardial fibroelastosis
OMIM:146255	GATA3	2625	HP:0000006	Autosomal dominant inheritance
OMIM:146255	GATA3	2625	HP:0000100	Nephrotic syndrome
OMIM:146255	GATA3	2625	HP:0012622	Chronic kidney disease
OMIM:146255	GATA3	2625	HP:0004722	Thickening of the glomerular basement membrane
OMIM:146255	GATA3	2625	HP:0000407	Sensorineural hearing impairment
OMIM:146255	GATA3	2625	HP:0000110	Renal dysplasia
OMIM:146255	GATA3	2625	HP:0000829	Hypoparathyroidism
OMIM:615401	CORO1A	11151	HP:0001263	Global developmental delay
OMIM:615401	CORO1A	11151	HP:0002205	Recurrent respiratory infections
OMIM:615401	CORO1A	11151	HP:0000007	Autosomal recessive inheritance
OMIM:615401	CORO1A	11151	HP:0002721	Immunodeficiency
OMIM:615401	CORO1A	11151	HP:0000752	Hyperactivity
OMIM:615401	CORO1A	11151	HP:0001888	Lymphopenia
OMIM:615401	CORO1A	11151	HP:0003593	Infantile onset
ORPHA:569	SCN1A	6323	HP:0100022	Abnormality of movement
ORPHA:569	SCN1A	6323	HP:0004374	Hemiplegia/hemiparesis
ORPHA:569	SCN1A	6323	HP:0000639	Nystagmus
ORPHA:569	SCN1A	6323	HP:0001251	Ataxia
ORPHA:569	CACNA1A	773	HP:0100022	Abnormality of movement
ORPHA:569	CACNA1A	773	HP:0004374	Hemiplegia/hemiparesis
ORPHA:569	CACNA1A	773	HP:0000639	Nystagmus
ORPHA:569	CACNA1A	773	HP:0001251	Ataxia
ORPHA:569	ATP1A2	477	HP:0100022	Abnormality of movement
ORPHA:569	ATP1A2	477	HP:0004374	Hemiplegia/hemiparesis
ORPHA:569	ATP1A2	477	HP:0000639	Nystagmus
ORPHA:569	ATP1A2	477	HP:0001251	Ataxia
ORPHA:569	PRRT2	112476	HP:0100022	Abnormality of movement
ORPHA:569	PRRT2	112476	HP:0004374	Hemiplegia/hemiparesis
ORPHA:569	PRRT2	112476	HP:0000639	Nystagmus
ORPHA:569	PRRT2	112476	HP:0001251	Ataxia
ORPHA:36426	IKZF1	10320	HP:0008066	Abnormal blistering of the skin
ORPHA:36426	IKZF1	10320	HP:0012733	Macule
ORPHA:36426	IKZF1	10320	HP:0002015	Dysphagia
ORPHA:36426	IKZF1	10320	HP:0001824	Weight loss
ORPHA:36426	IKZF1	10320	HP:0012378	Fatigue
ORPHA:36426	IKZF1	10320	HP:0003781	Excessive salivation
ORPHA:36426	IKZF1	10320	HP:0001945	Fever
ORPHA:36426	IKZF1	10320	HP:0002014	Diarrhea
ORPHA:36426	IKZF1	10320	HP:0010783	Erythema
ORPHA:36426	IKZF1	10320	HP:0100792	Acantholysis
ORPHA:36426	IKZF1	10320	HP:0001874	Abnormality of neutrophils
ORPHA:36426	IKZF1	10320	HP:0002017	Nausea and vomiting
ORPHA:36426	HLA-B	3106	HP:0008066	Abnormal blistering of the skin
ORPHA:36426	HLA-B	3106	HP:0012733	Macule
ORPHA:36426	HLA-B	3106	HP:0002015	Dysphagia
ORPHA:36426	HLA-B	3106	HP:0001824	Weight loss
ORPHA:36426	HLA-B	3106	HP:0012378	Fatigue
ORPHA:36426	HLA-B	3106	HP:0003781	Excessive salivation
ORPHA:36426	HLA-B	3106	HP:0001945	Fever
ORPHA:36426	HLA-B	3106	HP:0002014	Diarrhea
ORPHA:36426	HLA-B	3106	HP:0010783	Erythema
ORPHA:36426	HLA-B	3106	HP:0100792	Acantholysis
ORPHA:36426	HLA-B	3106	HP:0001874	Abnormality of neutrophils
ORPHA:36426	HLA-B	3106	HP:0002017	Nausea and vomiting
OMIM:612703	STIL	6491	HP:0003577	Congenital onset
OMIM:612703	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:612703	STIL	6491	HP:0000252	Microcephaly
OMIM:612703	STIL	6491	HP:0001249	Intellectual disability
OMIM:612703	STIL	6491	HP:0000340	Sloping forehead
ORPHA:676	SPINK1	6690	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	SPINK1	6690	HP:0011227	Elevated C-reactive protein level
ORPHA:676	SPINK1	6690	HP:0001974	Leukocytosis
ORPHA:676	SPINK1	6690	HP:0100027	Recurrent pancreatitis
ORPHA:676	SPINK1	6690	HP:0002027	Abdominal pain
ORPHA:676	CTRC	11330	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	CTRC	11330	HP:0011227	Elevated C-reactive protein level
ORPHA:676	CTRC	11330	HP:0001974	Leukocytosis
ORPHA:676	CTRC	11330	HP:0100027	Recurrent pancreatitis
ORPHA:676	CTRC	11330	HP:0002027	Abdominal pain
ORPHA:676	CFTR	1080	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	CFTR	1080	HP:0011227	Elevated C-reactive protein level
ORPHA:676	CFTR	1080	HP:0001974	Leukocytosis
ORPHA:676	CFTR	1080	HP:0100027	Recurrent pancreatitis
ORPHA:676	CFTR	1080	HP:0002027	Abdominal pain
ORPHA:676	PRSS1	5644	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	PRSS1	5644	HP:0011227	Elevated C-reactive protein level
ORPHA:676	PRSS1	5644	HP:0001974	Leukocytosis
ORPHA:676	PRSS1	5644	HP:0100027	Recurrent pancreatitis
ORPHA:676	PRSS1	5644	HP:0002027	Abdominal pain
ORPHA:676	PRSS2	5645	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	PRSS2	5645	HP:0011227	Elevated C-reactive protein level
ORPHA:676	PRSS2	5645	HP:0001974	Leukocytosis
ORPHA:676	PRSS2	5645	HP:0100027	Recurrent pancreatitis
ORPHA:676	PRSS2	5645	HP:0002027	Abdominal pain
ORPHA:676	CPA1	1357	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	CPA1	1357	HP:0011227	Elevated C-reactive protein level
ORPHA:676	CPA1	1357	HP:0001974	Leukocytosis
ORPHA:676	CPA1	1357	HP:0100027	Recurrent pancreatitis
ORPHA:676	CPA1	1357	HP:0002027	Abdominal pain
ORPHA:676	CASR	846	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:676	CASR	846	HP:0011227	Elevated C-reactive protein level
ORPHA:676	CASR	846	HP:0001974	Leukocytosis
ORPHA:676	CASR	846	HP:0100027	Recurrent pancreatitis
ORPHA:676	CASR	846	HP:0002027	Abdominal pain
OMIM:614113	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614113	DOCK8	81704	HP:0001263	Global developmental delay
OMIM:614113	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614113	DOCK8	81704	HP:0000750	Delayed speech and language development
ORPHA:654	POU6F2	11281	HP:0002667	Nephroblastoma
ORPHA:654	POU6F2	11281	HP:0002027	Abdominal pain
ORPHA:654	WT1	7490	HP:0002667	Nephroblastoma
ORPHA:654	WT1	7490	HP:0002027	Abdominal pain
ORPHA:654	BRCA2	675	HP:0002667	Nephroblastoma
ORPHA:654	BRCA2	675	HP:0002027	Abdominal pain
ORPHA:654	H19	283120	HP:0002667	Nephroblastoma
ORPHA:654	H19	283120	HP:0002027	Abdominal pain
ORPHA:654	DIS3L2	129563	HP:0002667	Nephroblastoma
ORPHA:654	DIS3L2	129563	HP:0002027	Abdominal pain
ORPHA:654	REST	5978	HP:0002667	Nephroblastoma
ORPHA:654	REST	5978	HP:0002027	Abdominal pain
ORPHA:654	GPC3	2719	HP:0002667	Nephroblastoma
ORPHA:654	GPC3	2719	HP:0002027	Abdominal pain
ORPHA:402075	NOTCH1	4851	HP:0004962	Thoracic aorta calcification
ORPHA:402075	NOTCH1	4851	HP:0004380	Aortic valve calcification
ORPHA:402075	NOTCH1	4851	HP:0005113	Dilatation of the aortic arch
ORPHA:402075	NOTCH1	4851	HP:0001647	Bicuspid aortic valve
ORPHA:402075	NOTCH1	4851	HP:0001650	Aortic valve stenosis
ORPHA:402075	NOTCH1	4851	HP:0030148	Heart murmur
ORPHA:402075	NOTCH1	4851	HP:0001659	Aortic regurgitation
ORPHA:402075	NOTCH1	4851	HP:0001680	Coarctation of aorta
ORPHA:402075	NOTCH1	4851	HP:0000822	Hypertension
ORPHA:402075	GATA5	140628	HP:0004962	Thoracic aorta calcification
ORPHA:402075	GATA5	140628	HP:0004380	Aortic valve calcification
ORPHA:402075	GATA5	140628	HP:0005113	Dilatation of the aortic arch
ORPHA:402075	GATA5	140628	HP:0001647	Bicuspid aortic valve
ORPHA:402075	GATA5	140628	HP:0001650	Aortic valve stenosis
ORPHA:402075	GATA5	140628	HP:0030148	Heart murmur
ORPHA:402075	GATA5	140628	HP:0001659	Aortic regurgitation
ORPHA:402075	GATA5	140628	HP:0001680	Coarctation of aorta
ORPHA:402075	GATA5	140628	HP:0000822	Hypertension
ORPHA:402075	NKX2-5	1482	HP:0004962	Thoracic aorta calcification
ORPHA:402075	NKX2-5	1482	HP:0004380	Aortic valve calcification
ORPHA:402075	NKX2-5	1482	HP:0005113	Dilatation of the aortic arch
ORPHA:402075	NKX2-5	1482	HP:0001647	Bicuspid aortic valve
ORPHA:402075	NKX2-5	1482	HP:0001650	Aortic valve stenosis
ORPHA:402075	NKX2-5	1482	HP:0030148	Heart murmur
ORPHA:402075	NKX2-5	1482	HP:0001659	Aortic regurgitation
ORPHA:402075	NKX2-5	1482	HP:0001680	Coarctation of aorta
ORPHA:402075	NKX2-5	1482	HP:0000822	Hypertension
ORPHA:402075	SMAD6	4091	HP:0004962	Thoracic aorta calcification
ORPHA:402075	SMAD6	4091	HP:0004380	Aortic valve calcification
ORPHA:402075	SMAD6	4091	HP:0005113	Dilatation of the aortic arch
ORPHA:402075	SMAD6	4091	HP:0001647	Bicuspid aortic valve
ORPHA:402075	SMAD6	4091	HP:0001650	Aortic valve stenosis
ORPHA:402075	SMAD6	4091	HP:0030148	Heart murmur
ORPHA:402075	SMAD6	4091	HP:0001659	Aortic regurgitation
ORPHA:402075	SMAD6	4091	HP:0001680	Coarctation of aorta
ORPHA:402075	SMAD6	4091	HP:0000822	Hypertension
OMIM:615897	CTPS1	1503	HP:0000007	Autosomal recessive inheritance
OMIM:615897	CTPS1	1503	HP:0005364	Severe viral infections
OMIM:615897	CTPS1	1503	HP:0001888	Lymphopenia
OMIM:615897	CTPS1	1503	HP:0030253	Defective T cell proliferation
OMIM:615897	CTPS1	1503	HP:0002721	Immunodeficiency
OMIM:615897	CTPS1	1503	HP:0008348	Immunoglobulin IgG2 deficiency
OMIM:616489	IGF2	3481	HP:0000006	Autosomal dominant inheritance
OMIM:616489	IGF2	3481	HP:0000995	Melanocytic nevus
OMIM:616489	IGF2	3481	HP:0001270	Motor delay
OMIM:616489	IGF2	3481	HP:0001419	X-linked recessive inheritance
OMIM:616489	IGF2	3481	HP:0002750	Delayed skeletal maturation
OMIM:616489	IGF2	3481	HP:0000369	Low-set ears
OMIM:616489	IGF2	3481	HP:0004322	Short stature
OMIM:616489	IGF2	3481	HP:0011220	Prominent forehead
OMIM:616489	IGF2	3481	HP:0001290	Generalized hypotonia
OMIM:616489	IGF2	3481	HP:0000325	Triangular face
OMIM:616489	IGF2	3481	HP:0008872	Feeding difficulties in infancy
OMIM:616489	IGF2	3481	HP:0004482	Relative macrocephaly
OMIM:616489	IGF2	3481	HP:0004325	Decreased body weight
OMIM:259100	HPGD	3248	HP:0000218	High palate
OMIM:259100	HPGD	3248	HP:0003577	Congenital onset
OMIM:259100	HPGD	3248	HP:0000975	Hyperhidrosis
OMIM:259100	HPGD	3248	HP:0003040	Arthropathy
OMIM:259100	HPGD	3248	HP:0001643	Patent ductus arteriosus
OMIM:259100	HPGD	3248	HP:0001519	Disproportionate tall stature
OMIM:259100	HPGD	3248	HP:0000508	Ptosis
OMIM:259100	HPGD	3248	HP:0010783	Erythema
OMIM:259100	HPGD	3248	HP:0000938	Osteopenia
OMIM:259100	HPGD	3248	HP:0000976	Eczematoid dermatitis
OMIM:259100	HPGD	3248	HP:0001217	Clubbing
OMIM:259100	HPGD	3248	HP:0000767	Pectus excavatum
OMIM:259100	HPGD	3248	HP:0002829	Arthralgia
OMIM:259100	HPGD	3248	HP:0001582	Redundant skin
OMIM:259100	HPGD	3248	HP:0000007	Autosomal recessive inheritance
OMIM:259100	HPGD	3248	HP:0000890	Long clavicles
OMIM:259100	HPGD	3248	HP:0001376	Limitation of joint mobility
OMIM:259100	HPGD	3248	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:259100	HPGD	3248	HP:0000239	Large fontanelles
OMIM:259100	HPGD	3248	HP:0002645	Wormian bones
OMIM:259100	HPGD	3248	HP:0001051	Seborrheic dermatitis
OMIM:259100	HPGD	3248	HP:0000939	Osteoporosis
OMIM:259100	HPGD	3248	HP:0001369	Arthritis
OMIM:259100	HPGD	3248	HP:0000280	Coarse facial features
OMIM:259100	HPGD	3248	HP:0002684	Thickened calvaria
OMIM:259100	HPGD	3248	HP:0000972	Palmoplantar hyperkeratosis
OMIM:614870	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX10	5192	HP:0001302	Pachygyria
OMIM:614870	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX10	5192	HP:0008935	Generalized neonatal hypotonia
OMIM:614870	PEX10	5192	HP:0001250	Seizures
OMIM:614870	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614870	PEX10	5192	HP:0011344	Severe global developmental delay
OMIM:276900	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:276900	USH1C	10083	HP:0000550	Undetectable electroretinogram
OMIM:276900	USH1C	10083	HP:0001270	Motor delay
OMIM:276900	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:276900	USH1C	10083	HP:0001425	Heterogeneous
OMIM:276900	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:276900	USH1C	10083	HP:0008555	Absent vestibular function
OMIM:276900	USH1C	10083	HP:0000572	Visual loss
OMIM:276900	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:276900	MYO7A	4647	HP:0000550	Undetectable electroretinogram
OMIM:276900	MYO7A	4647	HP:0001270	Motor delay
OMIM:276900	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:276900	MYO7A	4647	HP:0001425	Heterogeneous
OMIM:276900	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:276900	MYO7A	4647	HP:0008555	Absent vestibular function
OMIM:276900	MYO7A	4647	HP:0000572	Visual loss
OMIM:600737	GNE	10020	HP:0003325	Limb-girdle muscle weakness
OMIM:600737	GNE	10020	HP:0003458	EMG: myopathic abnormalities
OMIM:600737	GNE	10020	HP:0003581	Adult onset
OMIM:600737	GNE	10020	HP:0000007	Autosomal recessive inheritance
OMIM:600737	GNE	10020	HP:0003693	Distal amyotrophy
OMIM:600737	GNE	10020	HP:0003701	Proximal muscle weakness
OMIM:600737	GNE	10020	HP:0003805	Rimmed vacuoles
OMIM:600737	GNE	10020	HP:0003797	Limb-girdle muscle atrophy
OMIM:600737	GNE	10020	HP:0003791	Deposits immunoreactive to beta-amyloid protein
OMIM:600737	GNE	10020	HP:0001288	Gait disturbance
OMIM:600737	GNE	10020	HP:0003236	Elevated serum creatine phosphokinase
OMIM:120970	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:120970	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:120970	CRX	1406	HP:0000618	Blindness
OMIM:120970	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CRX	1406	HP:0000662	Nyctalopia
OMIM:120970	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:120970	CRX	1406	HP:0007663	Reduced visual acuity
ORPHA:324723	APP	351	HP:0000708	Behavioral abnormality
ORPHA:324723	APP	351	HP:0002373	Febrile seizures
ORPHA:50944	WNT10A	80326	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:50944	WNT10A	80326	HP:0006323	Premature loss of primary teeth
ORPHA:50944	WNT10A	80326	HP:0000668	Hypodontia
ORPHA:50944	WNT10A	80326	HP:0000982	Palmoplantar keratoderma
ORPHA:50944	WNT10A	80326	HP:0001006	Hypotrichosis
ORPHA:50944	WNT10A	80326	HP:0007380	Facial telangiectasia
ORPHA:50944	WNT10A	80326	HP:0001596	Alopecia
ORPHA:50944	WNT10A	80326	HP:0000968	Ectodermal dysplasia
OMIM:613943	LIPN	643418	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:613943	LIPN	643418	HP:0025114	Hypergranulosis
OMIM:613943	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:613943	LIPN	643418	HP:0000962	Hyperkeratosis
OMIM:613943	LIPN	643418	HP:0025092	Epidermal acanthosis
OMIM:613943	LIPN	643418	HP:0040162	Orthokeratosis
ORPHA:2990	CHRNG	1146	HP:0000508	Ptosis
ORPHA:2990	CHRNG	1146	HP:0000465	Webbed neck
ORPHA:2990	CHRNG	1146	HP:0001040	Multiple pterygia
ORPHA:2990	CHRNG	1146	HP:0006101	Finger syndactyly
ORPHA:2990	CHRNG	1146	HP:0000506	Telecanthus
ORPHA:2990	CHRNG	1146	HP:0000369	Low-set ears
ORPHA:2990	CHRNG	1146	HP:0000767	Pectus excavatum
ORPHA:2990	CHRNG	1146	HP:0000347	Micrognathia
ORPHA:2990	CHRNG	1146	HP:0000218	High palate
ORPHA:2990	CHRNG	1146	HP:0009756	Popliteal pterygium
ORPHA:2990	CHRNG	1146	HP:0009760	Antecubital pterygium
ORPHA:2990	CHRNG	1146	HP:0000286	Epicanthus
ORPHA:2990	CHRNG	1146	HP:0000316	Hypertelorism
ORPHA:2990	CHRNG	1146	HP:0003422	Vertebral segmentation defect
ORPHA:2990	CHRNG	1146	HP:0001376	Limitation of joint mobility
ORPHA:2990	CHRNG	1146	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:2990	CHRNG	1146	HP:0000307	Pointed chin
ORPHA:2990	CHRNG	1146	HP:0001060	Axillary pterygia
ORPHA:2990	CHRNG	1146	HP:0001511	Intrauterine growth retardation
ORPHA:2990	CHRNG	1146	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:2990	CHRNG	1146	HP:0001537	Umbilical hernia
ORPHA:2990	CHRNG	1146	HP:0000276	Long face
ORPHA:2990	CHRNG	1146	HP:0002643	Neonatal respiratory distress
ORPHA:2990	CHRNG	1146	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:2990	CHRNG	1146	HP:0002650	Scoliosis
ORPHA:2990	CHRNG	1146	HP:0100490	Camptodactyly of finger
ORPHA:2990	CHRNG	1146	HP:0000252	Microcephaly
ORPHA:2990	CHRNG	1146	HP:0001760	Abnormality of the foot
ORPHA:2990	CHRNG	1146	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:2990	CHRNG	1146	HP:0000135	Hypogonadism
ORPHA:2990	CHRNG	1146	HP:0000494	Downslanted palpebral fissures
ORPHA:2990	CHRNG	1146	HP:0000324	Facial asymmetry
ORPHA:2990	CHRNG	1146	HP:0004322	Short stature
OMIM:300472	IGBP1	3476	HP:0000407	Sensorineural hearing impairment
OMIM:300472	IGBP1	3476	HP:0000505	Visual impairment
OMIM:300472	IGBP1	3476	HP:0001274	Agenesis of corpus callosum
OMIM:300472	IGBP1	3476	HP:0002650	Scoliosis
OMIM:300472	IGBP1	3476	HP:0000218	High palate
OMIM:300472	IGBP1	3476	HP:0000348	High forehead
OMIM:300472	IGBP1	3476	HP:0000612	Iris coloboma
OMIM:300472	IGBP1	3476	HP:0000256	Macrocephaly
OMIM:300472	IGBP1	3476	HP:0000494	Downslanted palpebral fissures
OMIM:300472	IGBP1	3476	HP:0000369	Low-set ears
OMIM:300472	IGBP1	3476	HP:0000767	Pectus excavatum
OMIM:300472	IGBP1	3476	HP:0001249	Intellectual disability
OMIM:300472	IGBP1	3476	HP:0000475	Broad neck
OMIM:300472	IGBP1	3476	HP:0000378	Cupped ear
OMIM:300472	IGBP1	3476	HP:0000588	Optic nerve coloboma
OMIM:300472	IGBP1	3476	HP:0001419	X-linked recessive inheritance
OMIM:300472	IGBP1	3476	HP:0000278	Retrognathia
OMIM:300472	IGBP1	3476	HP:0000470	Short neck
OMIM:300472	IGBP1	3476	HP:0004322	Short stature
OMIM:300928	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300928	MID2	11043	HP:0003577	Congenital onset
OMIM:300928	MID2	11043	HP:0001263	Global developmental delay
OMIM:300928	MID2	11043	HP:0001344	Absent speech
OMIM:300928	MID2	11043	HP:0000752	Hyperactivity
OMIM:300928	MID2	11043	HP:0002465	Poor speech
OMIM:300928	MID2	11043	HP:0001249	Intellectual disability
OMIM:300928	MID2	11043	HP:0000486	Strabismus
OMIM:601316	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:601316	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:614944	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614944	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:173650	FERMT1	55612	HP:0000007	Autosomal recessive inheritance
OMIM:173650	FERMT1	55612	HP:0005585	Spotty hyperpigmentation
OMIM:173650	FERMT1	55612	HP:0001807	Ridged nail
OMIM:173650	FERMT1	55612	HP:0000670	Carious teeth
OMIM:173650	FERMT1	55612	HP:0004334	Dermal atrophy
OMIM:173650	FERMT1	55612	HP:0001741	Phimosis
OMIM:173650	FERMT1	55612	HP:0007488	Diffuse skin atrophy
OMIM:173650	FERMT1	55612	HP:0009775	Amniotic constriction ring
OMIM:173650	FERMT1	55612	HP:0000972	Palmoplantar hyperkeratosis
OMIM:173650	FERMT1	55612	HP:0001030	Fragile skin
OMIM:173650	FERMT1	55612	HP:0000704	Periodontitis
OMIM:173650	FERMT1	55612	HP:0000992	Cutaneous photosensitivity
OMIM:173650	FERMT1	55612	HP:0007561	Telangiectases in sun-exposed and nonexposed skin
OMIM:173650	FERMT1	55612	HP:0200020	Corneal erosion
OMIM:173650	FERMT1	55612	HP:0005590	Spotty hypopigmentation
OMIM:173650	FERMT1	55612	HP:0430007	Symblepharon
OMIM:614822	SEPT12	124404	HP:0000789	Infertility
OMIM:614822	SEPT12	124404	HP:0000006	Autosomal dominant inheritance
OMIM:616067	ZFPM2	23414	HP:0000063	Fused labia minora
OMIM:616067	ZFPM2	23414	HP:0012245	Sex reversal
OMIM:616067	ZFPM2	23414	HP:0000062	Ambiguous genitalia
OMIM:616067	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:604484	TFG	10342	HP:0003077	Hyperlipidemia
OMIM:604484	TFG	10342	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:604484	TFG	10342	HP:0007126	Proximal amyotrophy
OMIM:604484	TFG	10342	HP:0003581	Adult onset
OMIM:604484	TFG	10342	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604484	TFG	10342	HP:0002445	Tetraplegia
OMIM:604484	TFG	10342	HP:0002936	Distal sensory impairment
OMIM:604484	TFG	10342	HP:0001288	Gait disturbance
OMIM:604484	TFG	10342	HP:0002398	Degeneration of anterior horn cells
OMIM:604484	TFG	10342	HP:0002380	Fasciculations
OMIM:604484	TFG	10342	HP:0000763	Sensory neuropathy
OMIM:604484	TFG	10342	HP:0003701	Proximal muscle weakness
OMIM:604484	TFG	10342	HP:0003677	Slow progression
OMIM:604484	TFG	10342	HP:0000006	Autosomal dominant inheritance
OMIM:604484	TFG	10342	HP:0002171	Gliosis
OMIM:604484	TFG	10342	HP:0009830	Peripheral neuropathy
OMIM:615066	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:615066	TMEM38B	55151	HP:0002757	Recurrent fractures
OMIM:615066	TMEM38B	55151	HP:0000938	Osteopenia
OMIM:148600	AAGAB	79719	HP:0001425	Heterogeneous
OMIM:148600	AAGAB	79719	HP:0000006	Autosomal dominant inheritance
OMIM:148600	AAGAB	79719	HP:0003584	Late onset
OMIM:148600	AAGAB	79719	HP:0000951	Abnormality of the skin
OMIM:203300	HPS1	3257	HP:0000978	Bruising susceptibility
OMIM:203300	HPS1	3257	HP:0002206	Pulmonary fibrosis
OMIM:203300	HPS1	3257	HP:0000421	Epistaxis
OMIM:203300	HPS1	3257	HP:0001141	Severe visual impairment
OMIM:203300	HPS1	3257	HP:0002091	Restrictive ventilatory defect
OMIM:203300	HPS1	3257	HP:0002037	Inflammation of the large intestine
OMIM:203300	HPS1	3257	HP:0003010	Prolonged bleeding time
OMIM:203300	HPS1	3257	HP:0007603	Freckles in sun-exposed areas
OMIM:203300	HPS1	3257	HP:0001638	Cardiomyopathy
OMIM:203300	HPS1	3257	HP:0002573	Hematochezia
OMIM:203300	HPS1	3257	HP:0002027	Abdominal pain
OMIM:203300	HPS1	3257	HP:0001480	Freckling
OMIM:203300	HPS1	3257	HP:0001425	Heterogeneous
OMIM:203300	HPS1	3257	HP:0000083	Renal insufficiency
OMIM:203300	HPS1	3257	HP:0001107	Ocular albinism
OMIM:203300	HPS1	3257	HP:0000225	Gingival bleeding
OMIM:203300	HPS1	3257	HP:0000639	Nystagmus
OMIM:203300	HPS1	3257	HP:0001595	Abnormality of the hair
OMIM:203300	HPS1	3257	HP:0000007	Autosomal recessive inheritance
OMIM:203300	HPS1	3257	HP:0001022	Albinism
OMIM:203300	HPS1	3257	HP:0000995	Melanocytic nevus
OMIM:147891	TBX4	9496	HP:0008784	Wide capital femoral epiphyses
OMIM:147891	TBX4	9496	HP:0000006	Autosomal dominant inheritance
OMIM:147891	TBX4	9496	HP:0002812	Coxa vara
OMIM:147891	TBX4	9496	HP:0008801	Hypoplasia of the lesser trochanter
OMIM:147891	TBX4	9496	HP:0000347	Micrognathia
OMIM:147891	TBX4	9496	HP:0004322	Short stature
OMIM:147891	TBX4	9496	HP:0006443	Patellar aplasia
OMIM:147891	TBX4	9496	HP:0008368	Tarsal synostosis
OMIM:147891	TBX4	9496	HP:0000175	Cleft palate
OMIM:147891	TBX4	9496	HP:0005682	Talocalcaneal synostosis
OMIM:147891	TBX4	9496	HP:0003097	Short femur
OMIM:147891	TBX4	9496	HP:0003065	Patellar hypoplasia
OMIM:147891	TBX4	9496	HP:0003370	Flat capital femoral epiphysis
OMIM:147891	TBX4	9496	HP:0001763	Pes planus
OMIM:147891	TBX4	9496	HP:0002999	Patellar dislocation
OMIM:147891	TBX4	9496	HP:0000218	High palate
OMIM:147891	TBX4	9496	HP:0001852	Sandal gap
ORPHA:1517	KCNJ8	3764	HP:0001640	Cardiomegaly
ORPHA:1517	KCNJ8	3764	HP:0002230	Generalized hirsutism
ORPHA:1517	KCNJ8	3764	HP:0000944	Abnormality of the metaphysis
ORPHA:1517	KCNJ8	3764	HP:0000527	Long eyelashes
ORPHA:1517	KCNJ8	3764	HP:0000774	Narrow chest
ORPHA:1517	KCNJ8	3764	HP:0000939	Osteoporosis
ORPHA:1517	KCNJ8	3764	HP:0001869	Deep plantar creases
ORPHA:1517	KCNJ8	3764	HP:0000294	Low anterior hairline
ORPHA:1517	KCNJ8	3764	HP:0002673	Coxa valga
ORPHA:1517	KCNJ8	3764	HP:0003300	Ovoid vertebral bodies
ORPHA:1517	KCNJ8	3764	HP:0004634	Cuboid-shaped vertebral bodies
ORPHA:1517	KCNJ8	3764	HP:0000463	Anteverted nares
ORPHA:1517	KCNJ8	3764	HP:0000885	Broad ribs
ORPHA:1517	KCNJ8	3764	HP:0000154	Wide mouth
ORPHA:1517	KCNJ8	3764	HP:0000336	Prominent supraorbital ridges
ORPHA:1517	KCNJ8	3764	HP:0001256	Intellectual disability, mild
ORPHA:1517	KCNJ8	3764	HP:0000926	Platyspondyly
ORPHA:1517	KCNJ8	3764	HP:0002750	Delayed skeletal maturation
ORPHA:1517	KCNJ8	3764	HP:0009882	Short distal phalanx of finger
ORPHA:1517	KCNJ8	3764	HP:0000280	Coarse facial features
ORPHA:1517	KCNJ8	3764	HP:0000343	Long philtrum
ORPHA:1517	KCNJ8	3764	HP:0001643	Patent ductus arteriosus
ORPHA:1517	KCNJ8	3764	HP:0000256	Macrocephaly
ORPHA:1517	KCNJ8	3764	HP:0000286	Epicanthus
ORPHA:1517	KCNJ8	3764	HP:0010059	Broad hallux phalanx
ORPHA:1517	KCNJ8	3764	HP:0000574	Thick eyebrow
ORPHA:1517	KCNJ8	3764	HP:0007665	Curly eyelashes
ORPHA:1517	KCNJ8	3764	HP:0012471	Thick vermilion border
ORPHA:1517	KCNJ8	3764	HP:0002162	Low posterior hairline
ORPHA:1517	KCNJ8	3764	HP:0000431	Wide nasal bridge
ORPHA:1517	KCNJ8	3764	HP:0001537	Umbilical hernia
ORPHA:1517	KCNJ8	3764	HP:0000470	Short neck
ORPHA:1517	KCNJ8	3764	HP:0002652	Skeletal dysplasia
ORPHA:1517	KCNJ8	3764	HP:0010109	Short hallux
ORPHA:1517	ABCC9	10060	HP:0001640	Cardiomegaly
ORPHA:1517	ABCC9	10060	HP:0002230	Generalized hirsutism
ORPHA:1517	ABCC9	10060	HP:0000944	Abnormality of the metaphysis
ORPHA:1517	ABCC9	10060	HP:0000527	Long eyelashes
ORPHA:1517	ABCC9	10060	HP:0000774	Narrow chest
ORPHA:1517	ABCC9	10060	HP:0000939	Osteoporosis
ORPHA:1517	ABCC9	10060	HP:0001869	Deep plantar creases
ORPHA:1517	ABCC9	10060	HP:0000294	Low anterior hairline
ORPHA:1517	ABCC9	10060	HP:0002673	Coxa valga
ORPHA:1517	ABCC9	10060	HP:0003300	Ovoid vertebral bodies
ORPHA:1517	ABCC9	10060	HP:0004634	Cuboid-shaped vertebral bodies
ORPHA:1517	ABCC9	10060	HP:0000463	Anteverted nares
ORPHA:1517	ABCC9	10060	HP:0000885	Broad ribs
ORPHA:1517	ABCC9	10060	HP:0000154	Wide mouth
ORPHA:1517	ABCC9	10060	HP:0000336	Prominent supraorbital ridges
ORPHA:1517	ABCC9	10060	HP:0001256	Intellectual disability, mild
ORPHA:1517	ABCC9	10060	HP:0000926	Platyspondyly
ORPHA:1517	ABCC9	10060	HP:0002750	Delayed skeletal maturation
ORPHA:1517	ABCC9	10060	HP:0009882	Short distal phalanx of finger
ORPHA:1517	ABCC9	10060	HP:0000280	Coarse facial features
ORPHA:1517	ABCC9	10060	HP:0000343	Long philtrum
ORPHA:1517	ABCC9	10060	HP:0001643	Patent ductus arteriosus
ORPHA:1517	ABCC9	10060	HP:0000256	Macrocephaly
ORPHA:1517	ABCC9	10060	HP:0000286	Epicanthus
ORPHA:1517	ABCC9	10060	HP:0010059	Broad hallux phalanx
ORPHA:1517	ABCC9	10060	HP:0000574	Thick eyebrow
ORPHA:1517	ABCC9	10060	HP:0007665	Curly eyelashes
ORPHA:1517	ABCC9	10060	HP:0012471	Thick vermilion border
ORPHA:1517	ABCC9	10060	HP:0002162	Low posterior hairline
ORPHA:1517	ABCC9	10060	HP:0000431	Wide nasal bridge
ORPHA:1517	ABCC9	10060	HP:0001537	Umbilical hernia
ORPHA:1517	ABCC9	10060	HP:0000470	Short neck
ORPHA:1517	ABCC9	10060	HP:0002652	Skeletal dysplasia
ORPHA:1517	ABCC9	10060	HP:0010109	Short hallux
OMIM:616654	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:616654	TCTN2	79867	HP:0001310	Dysmetria
OMIM:616654	TCTN2	79867	HP:0001302	Pachygyria
OMIM:616654	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:616654	TCTN2	79867	HP:0003593	Infantile onset
OMIM:616654	TCTN2	79867	HP:0001290	Generalized hypotonia
OMIM:616654	TCTN2	79867	HP:0001347	Hyperreflexia
OMIM:616654	TCTN2	79867	HP:0001344	Absent speech
OMIM:616654	TCTN2	79867	HP:0000540	Hypermetropia
OMIM:616654	TCTN2	79867	HP:0001257	Spasticity
OMIM:616654	TCTN2	79867	HP:0000639	Nystagmus
OMIM:616654	TCTN2	79867	HP:0002126	Polymicrogyria
OMIM:616654	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:616654	TCTN2	79867	HP:0001321	Cerebellar hypoplasia
OMIM:616654	TCTN2	79867	HP:0001288	Gait disturbance
OMIM:300676	UPF3B	65109	HP:0002650	Scoliosis
OMIM:300676	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300676	UPF3B	65109	HP:0000275	Narrow face
OMIM:300676	UPF3B	65109	HP:0000426	Prominent nasal bridge
OMIM:300676	UPF3B	65109	HP:0000768	Pectus carinatum
OMIM:300676	UPF3B	65109	HP:0001833	Long foot
OMIM:300676	UPF3B	65109	HP:0011220	Prominent forehead
OMIM:300676	UPF3B	65109	HP:0000218	High palate
OMIM:300676	UPF3B	65109	HP:0000327	Hypoplasia of the maxilla
OMIM:300676	UPF3B	65109	HP:0000276	Long face
OMIM:300676	UPF3B	65109	HP:0000767	Pectus excavatum
OMIM:300676	UPF3B	65109	HP:0002007	Frontal bossing
OMIM:300676	UPF3B	65109	HP:0000256	Macrocephaly
OMIM:300676	UPF3B	65109	HP:0002808	Kyphosis
OMIM:300676	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300676	UPF3B	65109	HP:0000303	Mandibular prognathia
OMIM:300676	UPF3B	65109	HP:0000774	Narrow chest
OMIM:300676	UPF3B	65109	HP:0001507	Growth abnormality
OMIM:300676	UPF3B	65109	HP:0003011	Abnormality of the musculature
OMIM:300676	UPF3B	65109	HP:0001611	Nasal speech
OMIM:300676	UPF3B	65109	HP:0001166	Arachnodactyly
OMIM:308300	IKBKG	8517	HP:0000573	Retinal hemorrhage
OMIM:308300	IKBKG	8517	HP:0008404	Nail dystrophy
OMIM:308300	IKBKG	8517	HP:0004322	Short stature
OMIM:308300	IKBKG	8517	HP:0004529	Atrophic, patchy alopecia
OMIM:308300	IKBKG	8517	HP:0007850	Retinal vascular proliferation
OMIM:308300	IKBKG	8517	HP:0008070	Sparse hair
OMIM:308300	IKBKG	8517	HP:0000962	Hyperkeratosis
OMIM:308300	IKBKG	8517	HP:0001805	Thick nail
OMIM:308300	IKBKG	8517	HP:0001257	Spasticity
OMIM:308300	IKBKG	8517	HP:0002557	Hypoplastic nipples
OMIM:308300	IKBKG	8517	HP:0000252	Microcephaly
OMIM:308300	IKBKG	8517	HP:0007750	Hypoplasia of the fovea
OMIM:308300	IKBKG	8517	HP:0100699	Scarring
OMIM:308300	IKBKG	8517	HP:0002558	Supernumerary nipple
OMIM:308300	IKBKG	8517	HP:0000491	Keratitis
OMIM:308300	IKBKG	8517	HP:0000541	Retinal detachment
OMIM:308300	IKBKG	8517	HP:0001880	Eosinophilia
OMIM:308300	IKBKG	8517	HP:0000518	Cataract
OMIM:308300	IKBKG	8517	HP:0005815	Supernumerary ribs
OMIM:308300	IKBKG	8517	HP:0000486	Strabismus
OMIM:308300	IKBKG	8517	HP:0001423	X-linked dominant inheritance
OMIM:308300	IKBKG	8517	HP:0001249	Intellectual disability
OMIM:308300	IKBKG	8517	HP:0000554	Uveitis
OMIM:308300	IKBKG	8517	HP:0000648	Optic atrophy
OMIM:308300	IKBKG	8517	HP:0002751	Kyphoscoliosis
OMIM:308300	IKBKG	8517	HP:0001000	Abnormality of skin pigmentation
OMIM:308300	IKBKG	8517	HP:0100783	Breast aplasia
OMIM:308300	IKBKG	8517	HP:0002208	Coarse hair
OMIM:308300	IKBKG	8517	HP:0001807	Ridged nail
OMIM:308300	IKBKG	8517	HP:0003187	Breast hypoplasia
OMIM:308300	IKBKG	8517	HP:0001803	Nail pits
OMIM:308300	IKBKG	8517	HP:0001250	Seizures
OMIM:308300	IKBKG	8517	HP:0002213	Fine hair
OMIM:308300	IKBKG	8517	HP:0000568	Microphthalmia
OMIM:308300	IKBKG	8517	HP:0000668	Hypodontia
OMIM:308300	IKBKG	8517	HP:0002164	Nail dysplasia
OMIM:308300	IKBKG	8517	HP:0000684	Delayed eruption of teeth
OMIM:308300	IKBKG	8517	HP:0002937	Hemivertebrae
OMIM:308300	IKBKG	8517	HP:0010783	Erythema
ORPHA:2802	ABCB7	22	HP:0001347	Hyperreflexia
ORPHA:2802	ABCB7	22	HP:0100022	Abnormality of movement
ORPHA:2802	ABCB7	22	HP:0002167	Neurological speech impairment
ORPHA:2802	ABCB7	22	HP:0001263	Global developmental delay
ORPHA:2802	ABCB7	22	HP:0001903	Anemia
ORPHA:2802	ABCB7	22	HP:0000639	Nystagmus
ORPHA:2802	ABCB7	22	HP:0001251	Ataxia
OMIM:193670	CXCR4	7852	HP:0031160	Myelokathexis
OMIM:193670	CXCR4	7852	HP:0002110	Bronchiectasis
OMIM:193670	CXCR4	7852	HP:0200043	Verrucae
OMIM:193670	CXCR4	7852	HP:0004313	Decreased antibody level in blood
OMIM:193670	CXCR4	7852	HP:0002788	Recurrent upper respiratory tract infections
OMIM:193670	CXCR4	7852	HP:0002718	Recurrent bacterial infections
OMIM:193670	CXCR4	7852	HP:0004315	IgG deficiency
OMIM:193670	CXCR4	7852	HP:0000055	Abnormality of female external genitalia
OMIM:193670	CXCR4	7852	HP:0000006	Autosomal dominant inheritance
OMIM:193670	CXCR4	7852	HP:0000008	Abnormality of female internal genitalia
OMIM:193670	CXCR4	7852	HP:0001875	Neutropenia
OMIM:193670	CXCR4	7852	HP:0003593	Infantile onset
OMIM:193670	CXCR4	7852	HP:0031020	Bone marrow hypercellularity
OMIM:617090	CIT	11113	HP:0001249	Intellectual disability
OMIM:617090	CIT	11113	HP:0001257	Spasticity
OMIM:617090	CIT	11113	HP:0001347	Hyperreflexia
OMIM:617090	CIT	11113	HP:0001321	Cerebellar hypoplasia
OMIM:617090	CIT	11113	HP:0001274	Agenesis of corpus callosum
OMIM:617090	CIT	11113	HP:0000316	Hypertelorism
OMIM:617090	CIT	11113	HP:0000007	Autosomal recessive inheritance
OMIM:617090	CIT	11113	HP:0001508	Failure to thrive
OMIM:617090	CIT	11113	HP:0000104	Renal agenesis
OMIM:617090	CIT	11113	HP:0004322	Short stature
OMIM:617090	CIT	11113	HP:0000252	Microcephaly
OMIM:617090	CIT	11113	HP:0009879	Cortical gyral simplification
OMIM:617090	CIT	11113	HP:0002365	Hypoplasia of the brainstem
OMIM:617090	CIT	11113	HP:0000400	Macrotia
OMIM:617090	CIT	11113	HP:0000414	Bulbous nose
OMIM:617090	CIT	11113	HP:0003577	Congenital onset
OMIM:617090	CIT	11113	HP:0002119	Ventriculomegaly
OMIM:617090	CIT	11113	HP:0012471	Thick vermilion border
OMIM:617090	CIT	11113	HP:0001263	Global developmental delay
OMIM:617090	CIT	11113	HP:0003828	Variable expressivity
OMIM:617090	CIT	11113	HP:0000340	Sloping forehead
OMIM:214100	PEX1	5189	HP:0009487	Ulnar deviation of the hand
OMIM:214100	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX1	5189	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX1	5189	HP:0001623	Breech presentation
OMIM:214100	PEX1	5189	HP:0005989	Redundant neck skin
OMIM:214100	PEX1	5189	HP:0012368	Flat face
OMIM:214100	PEX1	5189	HP:0002705	High, narrow palate
OMIM:214100	PEX1	5189	HP:0005469	Flat occiput
OMIM:214100	PEX1	5189	HP:0010808	Protruding tongue
OMIM:214100	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX1	5189	HP:0003455	Elevated long chain fatty acids
OMIM:214100	PEX1	5189	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX1	5189	HP:0011039	Abnormality of the helix
OMIM:214100	PEX1	5189	HP:0001762	Talipes equinovarus
OMIM:214100	PEX1	5189	HP:0002416	Subependymal cysts
OMIM:214100	PEX1	5189	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX1	5189	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX1	5189	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX1	5189	HP:0000639	Nystagmus
OMIM:214100	PEX1	5189	HP:0001284	Areflexia
OMIM:214100	PEX1	5189	HP:0000286	Epicanthus
OMIM:214100	PEX1	5189	HP:0000158	Macroglossia
OMIM:214100	PEX1	5189	HP:0001838	Rocker bottom foot
OMIM:214100	PEX1	5189	HP:0000501	Glaucoma
OMIM:214100	PEX1	5189	HP:0000256	Macrocephaly
OMIM:214100	PEX1	5189	HP:0006894	Hypoplastic olfactory lobes
OMIM:214100	PEX1	5189	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:214100	PEX1	5189	HP:0001425	Heterogeneous
OMIM:214100	PEX1	5189	HP:0000244	Brachyturricephaly
OMIM:214100	PEX1	5189	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX1	5189	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX1	5189	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX1	5189	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX1	5189	HP:0002282	Heterotopia
OMIM:214100	PEX1	5189	HP:0000272	Malar flattening
OMIM:214100	PEX1	5189	HP:0001508	Failure to thrive
OMIM:214100	PEX1	5189	HP:0000126	Hydronephrosis
OMIM:214100	PEX1	5189	HP:0000518	Cataract
OMIM:214100	PEX1	5189	HP:0001250	Seizures
OMIM:214100	PEX1	5189	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX1	5189	HP:0001629	Ventricular septal defect
OMIM:214100	PEX1	5189	HP:0000028	Cryptorchidism
OMIM:214100	PEX1	5189	HP:0001290	Generalized hypotonia
OMIM:214100	PEX1	5189	HP:0000316	Hypertelorism
OMIM:214100	PEX1	5189	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX1	5189	HP:0001840	Metatarsus adductus
OMIM:214100	PEX1	5189	HP:0000348	High forehead
OMIM:214100	PEX1	5189	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX1	5189	HP:0000047	Hypospadias
OMIM:214100	PEX1	5189	HP:0000543	Optic disc pallor
OMIM:214100	PEX1	5189	HP:0000463	Anteverted nares
OMIM:214100	PEX1	5189	HP:0000311	Round face
OMIM:214100	PEX1	5189	HP:0001088	Brushfield spots
OMIM:214100	PEX1	5189	HP:0008665	Clitoral hypertrophy
OMIM:214100	PEX1	5189	HP:0001401	Intrahepatic biliary dysgenesis
OMIM:214100	PEX1	5189	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX1	5189	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX1	5189	HP:0002126	Polymicrogyria
OMIM:214100	PEX1	5189	HP:0003355	Aminoaciduria
OMIM:214100	PEX1	5189	HP:0002967	Cubitus valgus
OMIM:214100	PEX1	5189	HP:0001265	Hyporeflexia
OMIM:214100	PEX1	5189	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX1	5189	HP:0000347	Micrognathia
OMIM:214100	PEX1	5189	HP:0012592	Albuminuria
OMIM:214100	PEX1	5189	HP:0007759	Opacification of the corneal stroma
ORPHA:2314	STAT3	6774	HP:0000490	Deeply set eye
ORPHA:2314	STAT3	6774	HP:0000684	Delayed eruption of teeth
ORPHA:2314	STAT3	6774	HP:0000938	Osteopenia
ORPHA:2314	STAT3	6774	HP:0003212	Increased IgE level
ORPHA:2314	STAT3	6774	HP:0000389	Chronic otitis media
ORPHA:2314	STAT3	6774	HP:0000989	Pruritus
ORPHA:2314	STAT3	6774	HP:0000431	Wide nasal bridge
ORPHA:2314	STAT3	6774	HP:0000964	Eczema
ORPHA:2314	STAT3	6774	HP:0012735	Cough
ORPHA:2314	STAT3	6774	HP:0005692	Joint hyperflexibility
ORPHA:2314	STAT3	6774	HP:0002757	Recurrent fractures
ORPHA:2314	STAT3	6774	HP:0001880	Eosinophilia
ORPHA:2314	STAT3	6774	HP:0001595	Abnormality of the hair
ORPHA:2314	STAT3	6774	HP:0011220	Prominent forehead
ORPHA:2314	STAT3	6774	HP:0200042	Skin ulcer
ORPHA:2314	STAT3	6774	HP:0002650	Scoliosis
ORPHA:2314	STAT3	6774	HP:0100750	Atelectasis
ORPHA:2314	STAT3	6774	HP:0200034	Papule
ORPHA:2314	STAT3	6774	HP:0000988	Skin rash
ORPHA:2314	STAT3	6774	HP:0002205	Recurrent respiratory infections
ORPHA:2314	STAT3	6774	HP:0000175	Cleft palate
ORPHA:2314	STAT3	6774	HP:0001818	Paronychia
ORPHA:2314	STAT3	6774	HP:0008391	Dystrophic fingernails
ORPHA:2314	STAT3	6774	HP:0000230	Gingivitis
ORPHA:2314	STAT3	6774	HP:0011354	Generalized abnormality of skin
OMIM:146590	KRT1	3848	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:146590	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:146590	KRT1	3848	HP:0008064	Ichthyosis
OMIM:165800	ACAN	176	HP:0002758	Osteoarthritis
OMIM:165800	ACAN	176	HP:0002515	Waddling gait
OMIM:165800	ACAN	176	HP:0100777	Exostoses
OMIM:165800	ACAN	176	HP:0000006	Autosomal dominant inheritance
OMIM:165800	ACAN	176	HP:0004322	Short stature
OMIM:165800	ACAN	176	HP:0010886	Osteochondritis Dissecans
OMIM:165800	ACAN	176	HP:0001507	Growth abnormality
OMIM:123790	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
OMIM:123790	FGFR2	2263	HP:0000520	Proptosis
OMIM:123790	FGFR2	2263	HP:0007517	Palmoplantar cutis laxa
OMIM:123790	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:123790	FGFR2	2263	HP:0001792	Small nail
OMIM:123790	FGFR2	2263	HP:0002676	Cloverleaf skull
OMIM:123790	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123790	FGFR2	2263	HP:0001274	Agenesis of corpus callosum
OMIM:123790	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:123790	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:123790	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:123790	FGFR2	2263	HP:0000272	Malar flattening
OMIM:123790	FGFR2	2263	HP:0011800	Midface retrusion
OMIM:123790	FGFR2	2263	HP:0001263	Global developmental delay
OMIM:123790	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:123790	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:123790	FGFR2	2263	HP:0001377	Limited elbow extension
OMIM:123790	FGFR2	2263	HP:0001545	Anteriorly placed anus
OMIM:123790	FGFR2	2263	HP:0004450	Preauricular skin furrow
OMIM:123790	FGFR2	2263	HP:0000956	Acanthosis nigricans
OMIM:123790	FGFR2	2263	HP:0002098	Respiratory distress
OMIM:123790	FGFR2	2263	HP:0000048	Bifid scrotum
OMIM:123790	FGFR2	2263	HP:0000189	Narrow palate
OMIM:123790	FGFR2	2263	HP:0003246	Prominent scrotal raphe
OMIM:231300	CYP1B1	1545	HP:0000557	Buphthalmos
OMIM:231300	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:231300	CYP1B1	1545	HP:0007906	Increased intraocular pressure
OMIM:231300	CYP1B1	1545	HP:0001425	Heterogeneous
OMIM:231300	CYP1B1	1545	HP:0008041	Late onset congenital glaucoma
ORPHA:321	EXT1	2131	HP:0002762	Multiple exostoses
ORPHA:321	EXT1	2131	HP:0001324	Muscle weakness
ORPHA:321	EXT1	2131	HP:0002986	Radial bowing
ORPHA:321	EXT1	2131	HP:0003022	Hypoplasia of the ulna
ORPHA:321	EXT1	2131	HP:0003063	Abnormality of the humerus
ORPHA:321	EXT1	2131	HP:0002857	Genu valgum
ORPHA:321	EXT1	2131	HP:0002992	Abnormality of tibia morphology
ORPHA:321	EXT1	2131	HP:0004322	Short stature
ORPHA:321	EXT1	2131	HP:0003067	Madelung deformity
ORPHA:321	EXT1	2131	HP:0010885	Aseptic necrosis
ORPHA:321	EXT1	2131	HP:0000463	Anteverted nares
ORPHA:321	EXT1	2131	HP:0002983	Micromelia
ORPHA:321	EXT1	2131	HP:0002653	Bone pain
ORPHA:321	EXT1	2131	HP:0000164	Abnormality of the dentition
ORPHA:321	EXT1	2131	HP:0002823	Abnormality of femur morphology
ORPHA:321	EXT1	2131	HP:0000944	Abnormality of the metaphysis
ORPHA:321	EXT1	2131	HP:0001508	Failure to thrive
ORPHA:321	EXT1	2131	HP:0006824	Cranial nerve paralysis
ORPHA:321	EXT2	2132	HP:0002762	Multiple exostoses
ORPHA:321	EXT2	2132	HP:0001324	Muscle weakness
ORPHA:321	EXT2	2132	HP:0002986	Radial bowing
ORPHA:321	EXT2	2132	HP:0003022	Hypoplasia of the ulna
ORPHA:321	EXT2	2132	HP:0003063	Abnormality of the humerus
ORPHA:321	EXT2	2132	HP:0002857	Genu valgum
ORPHA:321	EXT2	2132	HP:0002992	Abnormality of tibia morphology
ORPHA:321	EXT2	2132	HP:0004322	Short stature
ORPHA:321	EXT2	2132	HP:0003067	Madelung deformity
ORPHA:321	EXT2	2132	HP:0010885	Aseptic necrosis
ORPHA:321	EXT2	2132	HP:0000463	Anteverted nares
ORPHA:321	EXT2	2132	HP:0002983	Micromelia
ORPHA:321	EXT2	2132	HP:0002653	Bone pain
ORPHA:321	EXT2	2132	HP:0000164	Abnormality of the dentition
ORPHA:321	EXT2	2132	HP:0002823	Abnormality of femur morphology
ORPHA:321	EXT2	2132	HP:0000944	Abnormality of the metaphysis
ORPHA:321	EXT2	2132	HP:0001508	Failure to thrive
ORPHA:321	EXT2	2132	HP:0006824	Cranial nerve paralysis
OMIM:614700	LRBA	987	HP:0002721	Immunodeficiency
OMIM:614700	LRBA	987	HP:0001369	Arthritis
OMIM:614700	LRBA	987	HP:0002850	IgM deficiency
OMIM:614700	LRBA	987	HP:0002028	Chronic diarrhea
OMIM:614700	LRBA	987	HP:0002090	Pneumonia
OMIM:614700	LRBA	987	HP:0000509	Conjunctivitis
OMIM:614700	LRBA	987	HP:0002110	Bronchiectasis
OMIM:614700	LRBA	987	HP:0006528	Chronic lung disease
OMIM:614700	LRBA	987	HP:0002720	IgA deficiency
OMIM:614700	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:614700	LRBA	987	HP:0001890	Autoimmune hemolytic anemia
OMIM:614700	LRBA	987	HP:0002583	Colitis
OMIM:614700	LRBA	987	HP:0001508	Failure to thrive
OMIM:614700	LRBA	987	HP:0003676	Progressive
OMIM:614700	LRBA	987	HP:0001510	Growth delay
OMIM:614700	LRBA	987	HP:0000403	Recurrent otitis media
OMIM:614700	LRBA	987	HP:0000821	Hypothyroidism
OMIM:614700	LRBA	987	HP:0005263	Gastritis
OMIM:614700	LRBA	987	HP:0001873	Thrombocytopenia
OMIM:614700	LRBA	987	HP:0002716	Lymphadenopathy
OMIM:614700	LRBA	987	HP:0002099	Asthma
OMIM:614700	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:614700	LRBA	987	HP:0100759	Clubbing of fingers
OMIM:614931	HOXC13	3229	HP:0000007	Autosomal recessive inheritance
OMIM:614931	HOXC13	3229	HP:0001598	Concave nail
OMIM:614931	HOXC13	3229	HP:0008404	Nail dystrophy
OMIM:614931	HOXC13	3229	HP:0001006	Hypotrichosis
OMIM:614931	HOXC13	3229	HP:0000968	Ectodermal dysplasia
ORPHA:47045	NLRC4	58484	HP:0000989	Pruritus
ORPHA:47045	NLRC4	58484	HP:0002315	Headache
ORPHA:47045	NLRC4	58484	HP:0001369	Arthritis
ORPHA:47045	NLRC4	58484	HP:0012534	Dysesthesia
ORPHA:47045	NLRC4	58484	HP:0002017	Nausea and vomiting
ORPHA:47045	NLRC4	58484	HP:0003326	Myalgia
ORPHA:47045	NLRC4	58484	HP:0012378	Fatigue
ORPHA:47045	NLRC4	58484	HP:0001025	Urticaria
ORPHA:47045	NLRC4	58484	HP:0000975	Hyperhidrosis
ORPHA:47045	NLRC4	58484	HP:0010783	Erythema
ORPHA:47045	NLRC4	58484	HP:0001945	Fever
ORPHA:47045	NLRP3	114548	HP:0000989	Pruritus
ORPHA:47045	NLRP3	114548	HP:0002315	Headache
ORPHA:47045	NLRP3	114548	HP:0001369	Arthritis
ORPHA:47045	NLRP3	114548	HP:0012534	Dysesthesia
ORPHA:47045	NLRP3	114548	HP:0002017	Nausea and vomiting
ORPHA:47045	NLRP3	114548	HP:0003326	Myalgia
ORPHA:47045	NLRP3	114548	HP:0012378	Fatigue
ORPHA:47045	NLRP3	114548	HP:0001025	Urticaria
ORPHA:47045	NLRP3	114548	HP:0000975	Hyperhidrosis
ORPHA:47045	NLRP3	114548	HP:0010783	Erythema
ORPHA:47045	NLRP3	114548	HP:0001945	Fever
OMIM:613765	TTN	7273	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613765	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613765	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:260540	MAPT	4137	HP:0002063	Rigidity
OMIM:260540	MAPT	4137	HP:0001337	Tremor
OMIM:260540	MAPT	4137	HP:0002751	Kyphoscoliosis
OMIM:260540	MAPT	4137	HP:0000726	Dementia
OMIM:260540	MAPT	4137	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:260540	MAPT	4137	HP:0007256	Abnormal pyramidal signs
OMIM:260540	MAPT	4137	HP:0003581	Adult onset
OMIM:260540	MAPT	4137	HP:0001300	Parkinsonism
OMIM:260540	MAPT	4137	HP:0000597	Ophthalmoparesis
ORPHA:238578	TBX4	9496	HP:0001762	Talipes equinovarus
ORPHA:238578	TBX4	9496	HP:0004322	Short stature
OMIM:601977	MPL	4352	HP:0001428	Somatic mutation
OMIM:601977	MPL	4352	HP:0001894	Thrombocytosis
OMIM:601977	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:612390	TSEN34	79042	HP:0000505	Visual impairment
OMIM:612390	TSEN34	79042	HP:0002072	Chorea
OMIM:612390	TSEN34	79042	HP:0000252	Microcephaly
OMIM:612390	TSEN34	79042	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612390	TSEN34	79042	HP:0000007	Autosomal recessive inheritance
OMIM:612390	TSEN34	79042	HP:0001332	Dystonia
OMIM:612390	TSEN34	79042	HP:0100307	Cerebellar hemisphere hypoplasia
ORPHA:2615	PSMB8	5696	HP:0001387	Joint stiffness
ORPHA:2615	PSMB8	5696	HP:0100759	Clubbing of fingers
ORPHA:2615	PSMB8	5696	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:2615	PSMB8	5696	HP:0100760	Clubbing of toes
ORPHA:2615	PSMB8	5696	HP:0000988	Skin rash
ORPHA:2615	PSMB8	5696	HP:0002829	Arthralgia
ORPHA:2615	PSMB8	5696	HP:0000975	Hyperhidrosis
ORPHA:2615	PSMB8	5696	HP:0002716	Lymphadenopathy
ORPHA:2615	PSMB8	5696	HP:0001744	Splenomegaly
ORPHA:2615	PSMB8	5696	HP:0003202	Skeletal muscle atrophy
ORPHA:2615	PSMB8	5696	HP:0001324	Muscle weakness
ORPHA:2615	PSMB8	5696	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:2615	PSMB8	5696	HP:0100578	Lipoatrophy
ORPHA:2615	PSMB8	5696	HP:0010702	Increased antibody level in blood
ORPHA:2615	PSMB8	5696	HP:0010789	Abnormality of the Leydig cells
ORPHA:2615	PSMB8	5696	HP:0100774	Hyperostosis
ORPHA:2615	PSMB8	5696	HP:0001482	Subcutaneous nodule
ORPHA:2615	PSMB8	5696	HP:0002240	Hepatomegaly
ORPHA:2615	PSMB8	5696	HP:0012219	Erythema nodosum
ORPHA:2615	PSMB8	5696	HP:0001954	Episodic fever
OMIM:610093	VSX2	338917	HP:0000568	Microphthalmia
OMIM:610093	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:602078	PHOX2A	401	HP:0007936	Restrictive external ophthalmoplegia
OMIM:602078	PHOX2A	401	HP:0000577	Exotropia
OMIM:602078	PHOX2A	401	HP:0001488	Bilateral ptosis
OMIM:602078	PHOX2A	401	HP:0001491	Congenital fibrosis of extraocular muscles
OMIM:602078	PHOX2A	401	HP:0000505	Visual impairment
OMIM:602078	PHOX2A	401	HP:0000646	Amblyopia
OMIM:602078	PHOX2A	401	HP:0000007	Autosomal recessive inheritance
ORPHA:1935	SLC25A22	79751	HP:0001254	Lethargy
ORPHA:1935	SLC25A22	79751	HP:0002015	Dysphagia
ORPHA:1935	SLC25A22	79751	HP:0001336	Myoclonus
ORPHA:1935	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
ORPHA:1935	SLC25A22	79751	HP:0002033	Poor suck
ORPHA:1935	SLC25A22	79751	HP:0001252	Muscular hypotonia
ORPHA:1935	SLC25A22	79751	HP:0012469	Infantile spasms
ORPHA:1935	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
ORPHA:1935	SLC25A22	79751	HP:0011167	Focal tonic seizures
ORPHA:1935	SLC25A22	79751	HP:0001263	Global developmental delay
ORPHA:1935	SLC25A22	79751	HP:0011168	Eyelid myoclonias
ORPHA:1935	SLC25A22	79751	HP:0001347	Hyperreflexia
ORPHA:1935	SLC25A22	79751	HP:0002205	Recurrent respiratory infections
ORPHA:1935	SIK1	150094	HP:0001254	Lethargy
ORPHA:1935	SIK1	150094	HP:0002015	Dysphagia
ORPHA:1935	SIK1	150094	HP:0001336	Myoclonus
ORPHA:1935	SIK1	150094	HP:0200134	Epileptic encephalopathy
ORPHA:1935	SIK1	150094	HP:0002033	Poor suck
ORPHA:1935	SIK1	150094	HP:0001252	Muscular hypotonia
ORPHA:1935	SIK1	150094	HP:0012469	Infantile spasms
ORPHA:1935	SIK1	150094	HP:0002123	Generalized myoclonic seizures
ORPHA:1935	SIK1	150094	HP:0011167	Focal tonic seizures
ORPHA:1935	SIK1	150094	HP:0001263	Global developmental delay
ORPHA:1935	SIK1	150094	HP:0011168	Eyelid myoclonias
ORPHA:1935	SIK1	150094	HP:0001347	Hyperreflexia
ORPHA:1935	SIK1	150094	HP:0002205	Recurrent respiratory infections
ORPHA:163746	SOX10	6663	HP:0000431	Wide nasal bridge
ORPHA:163746	SOX10	6663	HP:0000135	Hypogonadism
ORPHA:163746	SOX10	6663	HP:0002019	Constipation
ORPHA:163746	SOX10	6663	HP:0002595	Ileus
ORPHA:163746	SOX10	6663	HP:0001263	Global developmental delay
ORPHA:163746	SOX10	6663	HP:0001053	Hypopigmented skin patches
ORPHA:163746	SOX10	6663	HP:0001257	Spasticity
ORPHA:163746	SOX10	6663	HP:0000426	Prominent nasal bridge
ORPHA:163746	SOX10	6663	HP:0000639	Nystagmus
ORPHA:163746	SOX10	6663	HP:0000506	Telecanthus
ORPHA:163746	SOX10	6663	HP:0000534	Abnormality of the eyebrow
ORPHA:163746	SOX10	6663	HP:0001252	Muscular hypotonia
ORPHA:163746	SOX10	6663	HP:0002251	Aganglionic megacolon
ORPHA:163746	SOX10	6663	HP:0000407	Sensorineural hearing impairment
ORPHA:163746	SOX10	6663	HP:0001249	Intellectual disability
ORPHA:163746	SOX10	6663	HP:0001100	Heterochromia iridis
ORPHA:163746	SOX10	6663	HP:0001250	Seizures
ORPHA:163746	SOX10	6663	HP:0005599	Hypopigmentation of hair
ORPHA:163746	SOX10	6663	HP:0009830	Peripheral neuropathy
ORPHA:163746	SOX10	6663	HP:0001251	Ataxia
ORPHA:163746	SOX10	6663	HP:0002216	Premature graying of hair
ORPHA:163746	SOX10	6663	HP:0004388	Microcolon
ORPHA:163746	SOX10	6663	HP:0000633	Decreased lacrimation
ORPHA:163746	SOX10	6663	HP:0002027	Abdominal pain
ORPHA:163746	SOX10	6663	HP:0000430	Underdeveloped nasal alae
ORPHA:163746	SOX10	6663	HP:0007256	Abnormal pyramidal signs
OMIM:609579	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:609579	FGFR2	2263	HP:0000268	Dolichocephaly
ORPHA:1452	RUNX2	860	HP:0000316	Hypertelorism
ORPHA:1452	RUNX2	860	HP:0002705	High, narrow palate
ORPHA:1452	RUNX2	860	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:1452	RUNX2	860	HP:0011219	Short face
ORPHA:1452	RUNX2	860	HP:0002645	Wormian bones
ORPHA:1452	RUNX2	860	HP:0005280	Depressed nasal bridge
ORPHA:1452	RUNX2	860	HP:0000347	Micrognathia
ORPHA:1452	RUNX2	860	HP:0000894	Short clavicles
ORPHA:1452	RUNX2	860	HP:0000682	Abnormality of dental enamel
ORPHA:1452	RUNX2	860	HP:0010751	Dimple chin
ORPHA:1452	RUNX2	860	HP:0000684	Delayed eruption of teeth
ORPHA:1452	RUNX2	860	HP:0000772	Abnormality of the ribs
ORPHA:1452	RUNX2	860	HP:0000246	Sinusitis
ORPHA:1452	RUNX2	860	HP:0000365	Hearing impairment
ORPHA:1452	RUNX2	860	HP:0000389	Chronic otitis media
ORPHA:1452	RUNX2	860	HP:0004331	Decreased skull ossification
ORPHA:1452	RUNX2	860	HP:0001163	Abnormality of the metacarpal bones
ORPHA:1452	RUNX2	860	HP:0004322	Short stature
ORPHA:1452	RUNX2	860	HP:0000239	Large fontanelles
ORPHA:1452	RUNX2	860	HP:0000670	Carious teeth
ORPHA:1452	RUNX2	860	HP:0200021	Down-sloping shoulders
ORPHA:1452	RUNX2	860	HP:0011069	Increased number of teeth
ORPHA:1452	RUNX2	860	HP:0000303	Mandibular prognathia
ORPHA:1452	RUNX2	860	HP:0003298	Spina bifida occulta
ORPHA:1452	RUNX2	860	HP:0000774	Narrow chest
ORPHA:1452	RUNX2	860	HP:0008821	Hypoplastic inferior ilia
ORPHA:1452	RUNX2	860	HP:0011800	Midface retrusion
ORPHA:1452	RUNX2	860	HP:0002007	Frontal bossing
ORPHA:1452	RUNX2	860	HP:0002205	Recurrent respiratory infections
ORPHA:1452	RUNX2	860	HP:0002652	Skeletal dysplasia
ORPHA:1452	RUNX2	860	HP:0010807	Open bite
ORPHA:1452	RUNX2	860	HP:0000340	Sloping forehead
ORPHA:1452	RUNX2	860	HP:0001156	Brachydactyly
ORPHA:1452	RUNX2	860	HP:0000939	Osteoporosis
ORPHA:1452	RUNX2	860	HP:0005107	Abnormality of the sacrum
OMIM:300894	WDR45	11152	HP:0002459	Dysautonomia
OMIM:300894	WDR45	11152	HP:0002465	Poor speech
OMIM:300894	WDR45	11152	HP:0001263	Global developmental delay
OMIM:300894	WDR45	11152	HP:0001344	Absent speech
OMIM:300894	WDR45	11152	HP:0002059	Cerebral atrophy
OMIM:300894	WDR45	11152	HP:0002313	Spastic paraparesis
OMIM:300894	WDR45	11152	HP:0001423	X-linked dominant inheritance
OMIM:300894	WDR45	11152	HP:0002180	Neurodegeneration
OMIM:300894	WDR45	11152	HP:0002063	Rigidity
OMIM:300894	WDR45	11152	HP:0001300	Parkinsonism
OMIM:300894	WDR45	11152	HP:0001332	Dystonia
OMIM:300894	WDR45	11152	HP:0001249	Intellectual disability
OMIM:300894	WDR45	11152	HP:0000496	Abnormality of eye movement
OMIM:300894	WDR45	11152	HP:0001272	Cerebellar atrophy
OMIM:300894	WDR45	11152	HP:0000743	Frontal release signs
OMIM:300894	WDR45	11152	HP:0002067	Bradykinesia
OMIM:300894	WDR45	11152	HP:0000726	Dementia
OMIM:300894	WDR45	11152	HP:0001337	Tremor
OMIM:231000	GBA	2629	HP:0001744	Splenomegaly
OMIM:231000	GBA	2629	HP:0002240	Hepatomegaly
OMIM:231000	GBA	2629	HP:0004322	Short stature
OMIM:231000	GBA	2629	HP:0007817	Horizontal supranuclear gaze palsy
OMIM:231000	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:231000	GBA	2629	HP:0004934	Vascular calcification
OMIM:231000	GBA	2629	HP:0001876	Pancytopenia
OMIM:231000	GBA	2629	HP:0000716	Depressivity
OMIM:231000	GBA	2629	HP:0002123	Generalized myoclonic seizures
OMIM:231000	GBA	2629	HP:0001270	Motor delay
OMIM:231000	GBA	2629	HP:0003812	Phenotypic variability
OMIM:231000	GBA	2629	HP:0001251	Ataxia
OMIM:231000	GBA	2629	HP:0001336	Myoclonus
OMIM:231000	GBA	2629	HP:0000726	Dementia
OMIM:231000	GBA	2629	HP:0004325	Decreased body weight
OMIM:231000	GBA	2629	HP:0003656	Decreased beta-glucocerebrosidase protein and activity
OMIM:231000	GBA	2629	HP:0002313	Spastic paraparesis
OMIM:231000	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:231000	GBA	2629	HP:0002167	Neurological speech impairment
OMIM:231000	GBA	2629	HP:0000486	Strabismus
OMIM:231000	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:231000	GBA	2629	HP:0003581	Adult onset
OMIM:614896	CACNA1D	776	HP:0000007	Autosomal recessive inheritance
OMIM:614896	CACNA1D	776	HP:0001662	Bradycardia
OMIM:614896	CACNA1D	776	HP:0000365	Hearing impairment
OMIM:613834	ACTA2	59	HP:0002566	Intestinal malrotation
OMIM:613834	ACTA2	59	HP:0100770	Hyperperistalsis
OMIM:613834	ACTA2	59	HP:0002789	Tachypnea
OMIM:613834	ACTA2	59	HP:0012727	Dilatation of the thoracic aorta
OMIM:613834	ACTA2	59	HP:0004944	Dilatation of the cerebral artery
OMIM:613834	ACTA2	59	HP:0011499	Mydriasis
OMIM:613834	ACTA2	59	HP:0001643	Patent ductus arteriosus
OMIM:613834	ACTA2	59	HP:0000028	Cryptorchidism
OMIM:613834	ACTA2	59	HP:0030891	Periventricular white matter hyperdensities
OMIM:613834	ACTA2	59	HP:0007866	Retinal infarction
OMIM:613834	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:613834	ACTA2	59	HP:0002092	Pulmonary arterial hypertension
ORPHA:95716	SLC5A5	6528	HP:0002019	Constipation
ORPHA:95716	SLC5A5	6528	HP:0000952	Jaundice
ORPHA:95716	SLC5A5	6528	HP:0000158	Macroglossia
ORPHA:95716	SLC5A5	6528	HP:0001249	Intellectual disability
ORPHA:95716	SLC5A5	6528	HP:0001252	Muscular hypotonia
ORPHA:95716	SLC5A5	6528	HP:0100786	Hypersomnia
ORPHA:95716	SLC5A5	6528	HP:0000821	Hypothyroidism
ORPHA:95716	SLC5A5	6528	HP:0000239	Large fontanelles
ORPHA:95716	SLC5A5	6528	HP:0004322	Short stature
ORPHA:95716	SLC5A5	6528	HP:0000280	Coarse facial features
ORPHA:95716	SLC5A5	6528	HP:0000853	Goiter
ORPHA:95716	SLC5A5	6528	HP:0001263	Global developmental delay
ORPHA:95716	SLC5A5	6528	HP:0003270	Abdominal distention
ORPHA:95716	SLC5A5	6528	HP:0001537	Umbilical hernia
ORPHA:95716	SLC5A5	6528	HP:0012378	Fatigue
ORPHA:95716	TPO	7173	HP:0002019	Constipation
ORPHA:95716	TPO	7173	HP:0000952	Jaundice
ORPHA:95716	TPO	7173	HP:0000158	Macroglossia
ORPHA:95716	TPO	7173	HP:0001249	Intellectual disability
ORPHA:95716	TPO	7173	HP:0001252	Muscular hypotonia
ORPHA:95716	TPO	7173	HP:0100786	Hypersomnia
ORPHA:95716	TPO	7173	HP:0000821	Hypothyroidism
ORPHA:95716	TPO	7173	HP:0000239	Large fontanelles
ORPHA:95716	TPO	7173	HP:0004322	Short stature
ORPHA:95716	TPO	7173	HP:0000280	Coarse facial features
ORPHA:95716	TPO	7173	HP:0000853	Goiter
ORPHA:95716	TPO	7173	HP:0001263	Global developmental delay
ORPHA:95716	TPO	7173	HP:0003270	Abdominal distention
ORPHA:95716	TPO	7173	HP:0001537	Umbilical hernia
ORPHA:95716	TPO	7173	HP:0012378	Fatigue
ORPHA:95716	DUOX2	50506	HP:0002019	Constipation
ORPHA:95716	DUOX2	50506	HP:0000952	Jaundice
ORPHA:95716	DUOX2	50506	HP:0000158	Macroglossia
ORPHA:95716	DUOX2	50506	HP:0001249	Intellectual disability
ORPHA:95716	DUOX2	50506	HP:0001252	Muscular hypotonia
ORPHA:95716	DUOX2	50506	HP:0100786	Hypersomnia
ORPHA:95716	DUOX2	50506	HP:0000821	Hypothyroidism
ORPHA:95716	DUOX2	50506	HP:0000239	Large fontanelles
ORPHA:95716	DUOX2	50506	HP:0004322	Short stature
ORPHA:95716	DUOX2	50506	HP:0000280	Coarse facial features
ORPHA:95716	DUOX2	50506	HP:0000853	Goiter
ORPHA:95716	DUOX2	50506	HP:0001263	Global developmental delay
ORPHA:95716	DUOX2	50506	HP:0003270	Abdominal distention
ORPHA:95716	DUOX2	50506	HP:0001537	Umbilical hernia
ORPHA:95716	DUOX2	50506	HP:0012378	Fatigue
ORPHA:95716	TG	7038	HP:0002019	Constipation
ORPHA:95716	TG	7038	HP:0000952	Jaundice
ORPHA:95716	TG	7038	HP:0000158	Macroglossia
ORPHA:95716	TG	7038	HP:0001249	Intellectual disability
ORPHA:95716	TG	7038	HP:0001252	Muscular hypotonia
ORPHA:95716	TG	7038	HP:0100786	Hypersomnia
ORPHA:95716	TG	7038	HP:0000821	Hypothyroidism
ORPHA:95716	TG	7038	HP:0000239	Large fontanelles
ORPHA:95716	TG	7038	HP:0004322	Short stature
ORPHA:95716	TG	7038	HP:0000280	Coarse facial features
ORPHA:95716	TG	7038	HP:0000853	Goiter
ORPHA:95716	TG	7038	HP:0001263	Global developmental delay
ORPHA:95716	TG	7038	HP:0003270	Abdominal distention
ORPHA:95716	TG	7038	HP:0001537	Umbilical hernia
ORPHA:95716	TG	7038	HP:0012378	Fatigue
ORPHA:95716	DUOXA2	405753	HP:0002019	Constipation
ORPHA:95716	DUOXA2	405753	HP:0000952	Jaundice
ORPHA:95716	DUOXA2	405753	HP:0000158	Macroglossia
ORPHA:95716	DUOXA2	405753	HP:0001249	Intellectual disability
ORPHA:95716	DUOXA2	405753	HP:0001252	Muscular hypotonia
ORPHA:95716	DUOXA2	405753	HP:0100786	Hypersomnia
ORPHA:95716	DUOXA2	405753	HP:0000821	Hypothyroidism
ORPHA:95716	DUOXA2	405753	HP:0000239	Large fontanelles
ORPHA:95716	DUOXA2	405753	HP:0004322	Short stature
ORPHA:95716	DUOXA2	405753	HP:0000280	Coarse facial features
ORPHA:95716	DUOXA2	405753	HP:0000853	Goiter
ORPHA:95716	DUOXA2	405753	HP:0001263	Global developmental delay
ORPHA:95716	DUOXA2	405753	HP:0003270	Abdominal distention
ORPHA:95716	DUOXA2	405753	HP:0001537	Umbilical hernia
ORPHA:95716	DUOXA2	405753	HP:0012378	Fatigue
ORPHA:95716	IYD	389434	HP:0002019	Constipation
ORPHA:95716	IYD	389434	HP:0000952	Jaundice
ORPHA:95716	IYD	389434	HP:0000158	Macroglossia
ORPHA:95716	IYD	389434	HP:0001249	Intellectual disability
ORPHA:95716	IYD	389434	HP:0001252	Muscular hypotonia
ORPHA:95716	IYD	389434	HP:0100786	Hypersomnia
ORPHA:95716	IYD	389434	HP:0000821	Hypothyroidism
ORPHA:95716	IYD	389434	HP:0000239	Large fontanelles
ORPHA:95716	IYD	389434	HP:0004322	Short stature
ORPHA:95716	IYD	389434	HP:0000280	Coarse facial features
ORPHA:95716	IYD	389434	HP:0000853	Goiter
ORPHA:95716	IYD	389434	HP:0001263	Global developmental delay
ORPHA:95716	IYD	389434	HP:0003270	Abdominal distention
ORPHA:95716	IYD	389434	HP:0001537	Umbilical hernia
ORPHA:95716	IYD	389434	HP:0012378	Fatigue
ORPHA:3412	FANCB	2187	HP:0000587	Abnormality of the optic nerve
ORPHA:3412	FANCB	2187	HP:0002575	Tracheoesophageal fistula
ORPHA:3412	FANCB	2187	HP:0001249	Intellectual disability
ORPHA:3412	FANCB	2187	HP:0000482	Microcornea
ORPHA:3412	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3412	FANCB	2187	HP:0001511	Intrauterine growth retardation
ORPHA:3412	FANCB	2187	HP:0001561	Polyhydramnios
ORPHA:3412	FANCB	2187	HP:0000104	Renal agenesis
ORPHA:3412	FANCB	2187	HP:0002023	Anal atresia
ORPHA:3412	FANCB	2187	HP:0002984	Hypoplasia of the radius
ORPHA:3412	FANCB	2187	HP:0000238	Hydrocephalus
ORPHA:3412	FANCB	2187	HP:0002937	Hemivertebrae
ORPHA:3412	FANCB	2187	HP:0002410	Aqueductal stenosis
ORPHA:3412	FANCB	2187	HP:0002032	Esophageal atresia
OMIM:616428	RBP4	5950	HP:0000612	Iris coloboma
OMIM:616428	RBP4	5950	HP:0000568	Microphthalmia
OMIM:616428	RBP4	5950	HP:0000567	Chorioretinal coloboma
OMIM:616428	RBP4	5950	HP:0000006	Autosomal dominant inheritance
ORPHA:2229	LMNA	4000	HP:0000147	Polycystic ovaries
ORPHA:2229	LMNA	4000	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:2229	LMNA	4000	HP:0000431	Wide nasal bridge
ORPHA:2229	LMNA	4000	HP:0001644	Dilated cardiomyopathy
ORPHA:2229	LMNA	4000	HP:0100362	Aplasia of the phalanges of the 3rd toe
ORPHA:2229	LMNA	4000	HP:0000508	Ptosis
ORPHA:2229	LMNA	4000	HP:0000826	Precocious puberty
OMIM:616728	KDM1A	23028	HP:0006895	Lower limb hypertonia
OMIM:616728	KDM1A	23028	HP:0001182	Tapered finger
OMIM:616728	KDM1A	23028	HP:0002553	Highly arched eyebrow
OMIM:616728	KDM1A	23028	HP:0001290	Generalized hypotonia
OMIM:616728	KDM1A	23028	HP:0009778	Short thumb
OMIM:616728	KDM1A	23028	HP:0003468	Abnormal vertebral morphology
OMIM:616728	KDM1A	23028	HP:0002007	Frontal bossing
OMIM:616728	KDM1A	23028	HP:0001270	Motor delay
OMIM:616728	KDM1A	23028	HP:0000006	Autosomal dominant inheritance
OMIM:610427	CABP4	57010	HP:0000505	Visual impairment
OMIM:610427	CABP4	57010	HP:0000639	Nystagmus
OMIM:610427	CABP4	57010	HP:0000613	Photophobia
OMIM:610427	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:610427	CABP4	57010	HP:0007984	Electronegative electroretinogram
OMIM:610427	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:612690	EPB42	2038	HP:0000007	Autosomal recessive inheritance
OMIM:612690	EPB42	2038	HP:0004444	Spherocytosis
OMIM:612690	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:605472	PDZD7	79955	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	PDZD7	79955	HP:0000510	Rod-cone dystrophy
OMIM:605472	PDZD7	79955	HP:0000007	Autosomal recessive inheritance
OMIM:605472	ADGRV1	84059	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	ADGRV1	84059	HP:0000510	Rod-cone dystrophy
OMIM:605472	ADGRV1	84059	HP:0000007	Autosomal recessive inheritance
OMIM:612164	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:612164	STXBP1	6812	HP:0007105	Infantile encephalopathy
OMIM:612164	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	STXBP1	6812	HP:0002376	Developmental regression
OMIM:612164	STXBP1	6812	HP:0001258	Spastic paraplegia
OMIM:612164	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:612164	STXBP1	6812	HP:0001337	Tremor
OMIM:612164	STXBP1	6812	HP:0011097	Epileptic spasms
OMIM:612164	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:612164	STXBP1	6812	HP:0010864	Intellectual disability, severe
OMIM:612164	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:612164	STXBP1	6812	HP:0010818	Generalized tonic seizures
OMIM:612164	STXBP1	6812	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	STXBP1	6812	HP:0010851	EEG with burst suppression
OMIM:612164	STXBP1	6812	HP:0001290	Generalized hypotonia
OMIM:612164	STXBP1	6812	HP:0003828	Variable expressivity
OMIM:612164	STXBP1	6812	HP:0003623	Neonatal onset
OMIM:612164	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:612164	STXBP1	6812	HP:0001344	Absent speech
OMIM:612164	STXBP1	6812	HP:0002510	Spastic tetraplegia
OMIM:612164	STXBP1	6812	HP:0011344	Severe global developmental delay
OMIM:612164	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:612164	STXBP1	6812	HP:0006808	Cerebral hypomyelination
OMIM:612164	STXBP1	6812	HP:0001151	Impaired horizontal smooth pursuit
OMIM:615597	STT3B	201595	HP:0001290	Generalized hypotonia
OMIM:615597	STT3B	201595	HP:0011968	Feeding difficulties
OMIM:615597	STT3B	201595	HP:0003577	Congenital onset
OMIM:615597	STT3B	201595	HP:0003819	Death in childhood
OMIM:615597	STT3B	201595	HP:0000648	Optic atrophy
OMIM:615597	STT3B	201595	HP:0001272	Cerebellar atrophy
OMIM:615597	STT3B	201595	HP:0001263	Global developmental delay
OMIM:615597	STT3B	201595	HP:0001873	Thrombocytopenia
OMIM:615597	STT3B	201595	HP:0001249	Intellectual disability
OMIM:615597	STT3B	201595	HP:0000054	Micropenis
OMIM:615597	STT3B	201595	HP:0002098	Respiratory distress
OMIM:615597	STT3B	201595	HP:0001511	Intrauterine growth retardation
OMIM:615597	STT3B	201595	HP:0000046	Scrotal hypoplasia
OMIM:615597	STT3B	201595	HP:0000028	Cryptorchidism
OMIM:615597	STT3B	201595	HP:0001250	Seizures
OMIM:615597	STT3B	201595	HP:0001410	Decreased liver function
OMIM:615597	STT3B	201595	HP:0000007	Autosomal recessive inheritance
OMIM:615597	STT3B	201595	HP:0001508	Failure to thrive
OMIM:615597	STT3B	201595	HP:0000252	Microcephaly
OMIM:300915	HMGB3	3149	HP:0000482	Microcornea
OMIM:300915	HMGB3	3149	HP:0000508	Ptosis
OMIM:300915	HMGB3	3149	HP:0000252	Microcephaly
OMIM:300915	HMGB3	3149	HP:0000568	Microphthalmia
OMIM:300915	HMGB3	3149	HP:0000589	Coloboma
OMIM:300915	HMGB3	3149	HP:0001263	Global developmental delay
OMIM:300915	HMGB3	3149	HP:0000565	Esotropia
OMIM:300915	HMGB3	3149	HP:0001417	X-linked inheritance
OMIM:300915	HMGB3	3149	HP:0004322	Short stature
OMIM:300915	HMGB3	3149	HP:0000377	Abnormality of the pinna
OMIM:300915	HMGB3	3149	HP:0012043	Pendular nystagmus
OMIM:300915	HMGB3	3149	HP:0001249	Intellectual disability
OMIM:300915	HMGB3	3149	HP:0040080	Anteverted ears
ORPHA:1195	TF	7018	HP:0001903	Anemia
ORPHA:1195	TF	7018	HP:0002719	Recurrent infections
OMIM:613330	NKX3-2	579	HP:0008788	Delayed pubic bone ossification
OMIM:613330	NKX3-2	579	HP:0002970	Genu varum
OMIM:613330	NKX3-2	579	HP:0001538	Protuberant abdomen
OMIM:613330	NKX3-2	579	HP:0004288	Pseudoepiphyses of hand bones
OMIM:613330	NKX3-2	579	HP:0003025	Metaphyseal irregularity
OMIM:613330	NKX3-2	579	HP:0000946	Hypoplastic ilia
OMIM:613330	NKX3-2	579	HP:0000470	Short neck
OMIM:613330	NKX3-2	579	HP:0000256	Macrocephaly
OMIM:613330	NKX3-2	579	HP:0000773	Short ribs
OMIM:613330	NKX3-2	579	HP:0002812	Coxa vara
OMIM:613330	NKX3-2	579	HP:0009714	Abnormality of the epididymis
OMIM:613330	NKX3-2	579	HP:0002857	Genu valgum
OMIM:613330	NKX3-2	579	HP:0000007	Autosomal recessive inheritance
OMIM:613330	NKX3-2	579	HP:0000316	Hypertelorism
OMIM:613330	NKX3-2	579	HP:0100255	Metaphyseal dysplasia
OMIM:613330	NKX3-2	579	HP:0001371	Flexion contracture
OMIM:613330	NKX3-2	579	HP:0100569	Abnormal vertebral ossification
OMIM:613330	NKX3-2	579	HP:0010580	Enlarged epiphyses
OMIM:613330	NKX3-2	579	HP:0003521	Disproportionate short-trunk short stature
ORPHA:380	GLI3	2737	HP:0000431	Wide nasal bridge
ORPHA:380	GLI3	2737	HP:0000348	High forehead
ORPHA:380	GLI3	2737	HP:0000316	Hypertelorism
ORPHA:380	GLI3	2737	HP:0000256	Macrocephaly
ORPHA:380	GLI3	2737	HP:0001841	Preaxial foot polydactyly
ORPHA:380	GLI3	2737	HP:0005616	Accelerated skeletal maturation
ORPHA:380	GLI3	2737	HP:0001162	Postaxial hand polydactyly
ORPHA:380	GLI3	2737	HP:0002007	Frontal bossing
ORPHA:380	GLI3	2737	HP:0000506	Telecanthus
ORPHA:380	GLI3	2737	HP:0006101	Finger syndactyly
ORPHA:380	GLI3	2737	HP:0001770	Toe syndactyly
OMIM:251450	CANT1	124583	HP:0005067	Proximal fibular overgrowth
OMIM:251450	CANT1	124583	HP:0001763	Pes planus
OMIM:251450	CANT1	124583	HP:0001249	Intellectual disability
OMIM:251450	CANT1	124583	HP:0003071	Flattened epiphysis
OMIM:251450	CANT1	124583	HP:0008082	Medial deviation of the foot
OMIM:251450	CANT1	124583	HP:0001087	Congenital glaucoma
OMIM:251450	CANT1	124583	HP:0000272	Malar flattening
OMIM:251450	CANT1	124583	HP:0001852	Sandal gap
OMIM:251450	CANT1	124583	HP:0009611	Bifid distal phalanx of the thumb
OMIM:251450	CANT1	124583	HP:0010097	Partial duplication of the distal phalanx of the hallux
OMIM:251450	CANT1	124583	HP:0002650	Scoliosis
OMIM:251450	CANT1	124583	HP:0000545	Myopia
OMIM:251450	CANT1	124583	HP:0001513	Obesity
OMIM:251450	CANT1	124583	HP:0006243	Phalangeal dislocation
OMIM:251450	CANT1	124583	HP:0000311	Round face
OMIM:251450	CANT1	124583	HP:0002673	Coxa valga
OMIM:251450	CANT1	124583	HP:0000308	Microretrognathia
OMIM:251450	CANT1	124583	HP:0100864	Short femoral neck
OMIM:251450	CANT1	124583	HP:0008108	Advanced tarsal ossification
OMIM:251450	CANT1	124583	HP:0010034	Short 1st metacarpal
OMIM:251450	CANT1	124583	HP:0001762	Talipes equinovarus
OMIM:251450	CANT1	124583	HP:0002515	Waddling gait
OMIM:251450	CANT1	124583	HP:0006439	Radioulnar dislocation
OMIM:251450	CANT1	124583	HP:0002812	Coxa vara
OMIM:251450	CANT1	124583	HP:0010068	Broad first metatarsal
OMIM:251450	CANT1	124583	HP:0000470	Short neck
OMIM:251450	CANT1	124583	HP:0003180	Flat acetabular roof
OMIM:251450	CANT1	124583	HP:0000926	Platyspondyly
OMIM:251450	CANT1	124583	HP:0002970	Genu varum
OMIM:251450	CANT1	124583	HP:0004233	Advanced ossification of carpal bones
OMIM:251450	CANT1	124583	HP:0006429	Broad femoral neck
OMIM:251450	CANT1	124583	HP:0003196	Short nose
OMIM:251450	CANT1	124583	HP:0003307	Hyperlordosis
OMIM:251450	CANT1	124583	HP:0002758	Osteoarthritis
OMIM:251450	CANT1	124583	HP:0003016	Metaphyseal widening
OMIM:251450	CANT1	124583	HP:0000007	Autosomal recessive inheritance
OMIM:251450	CANT1	124583	HP:0010743	Short metatarsal
OMIM:251450	CANT1	124583	HP:0005280	Depressed nasal bridge
OMIM:251450	CANT1	124583	HP:0001388	Joint laxity
OMIM:251450	CANT1	124583	HP:0001270	Motor delay
OMIM:251450	CANT1	124583	HP:0001290	Generalized hypotonia
OMIM:251450	CANT1	124583	HP:0000160	Narrow mouth
OMIM:251450	CANT1	124583	HP:0000520	Proptosis
OMIM:251450	CANT1	124583	HP:0003510	Severe short stature
OMIM:251450	CANT1	124583	HP:0000774	Narrow chest
OMIM:251450	CANT1	124583	HP:0003828	Variable expressivity
OMIM:251450	CANT1	124583	HP:0001156	Brachydactyly
OMIM:251450	CANT1	124583	HP:0008873	Disproportionate short-limb short stature
OMIM:251450	CANT1	124583	HP:0011800	Midface retrusion
OMIM:251450	CANT1	124583	HP:0000939	Osteoporosis
OMIM:251450	CANT1	124583	HP:0002808	Kyphosis
ORPHA:314795	SHOX	6473	HP:0000218	High palate
ORPHA:314795	SHOX	6473	HP:0003712	Skeletal muscle hypertrophy
ORPHA:314795	SHOX	6473	HP:0000470	Short neck
ORPHA:314795	SHOX	6473	HP:0009816	Lower limb undergrowth
ORPHA:314795	SHOX	6473	HP:0003067	Madelung deformity
ORPHA:314795	SHOX	6473	HP:0000347	Micrognathia
ORPHA:314795	SHOX	6473	HP:0002857	Genu valgum
ORPHA:314795	SHOX	6473	HP:0005856	Ulnar radial head dislocation
ORPHA:314795	SHOX	6473	HP:0002650	Scoliosis
ORPHA:314795	SHOX	6473	HP:0004322	Short stature
ORPHA:314795	SHOX	6473	HP:0001513	Obesity
ORPHA:314795	SHOX	6473	HP:0002967	Cubitus valgus
ORPHA:314795	SHOX	6473	HP:0005974	Episodic ketoacidosis
ORPHA:314795	SHOX	6473	HP:0001773	Short foot
ORPHA:314795	SHOX	6473	HP:0002982	Tibial bowing
ORPHA:314795	SHOX	6473	HP:0009821	Forearm undergrowth
ORPHA:107	EYA1	2138	HP:0004452	Abnormality of the middle ear ossicles
ORPHA:107	EYA1	2138	HP:0008678	Renal hypoplasia/aplasia
ORPHA:107	EYA1	2138	HP:0000365	Hearing impairment
ORPHA:107	EYA1	2138	HP:0008586	Hypoplasia of the cochlea
ORPHA:107	EYA1	2138	HP:0008572	External ear malformation
ORPHA:107	EYA1	2138	HP:0000402	Stenosis of the external auditory canal
ORPHA:107	EYA1	2138	HP:0009796	Branchial cyst
ORPHA:107	EYA1	2138	HP:0000384	Preauricular skin tag
ORPHA:107	EYA1	2138	HP:0011388	Enlarged cochlear aqueduct
ORPHA:107	EYA1	2138	HP:0000413	Atresia of the external auditory canal
ORPHA:107	SIX5	147912	HP:0004452	Abnormality of the middle ear ossicles
ORPHA:107	SIX5	147912	HP:0008678	Renal hypoplasia/aplasia
ORPHA:107	SIX5	147912	HP:0000365	Hearing impairment
ORPHA:107	SIX5	147912	HP:0008586	Hypoplasia of the cochlea
ORPHA:107	SIX5	147912	HP:0008572	External ear malformation
ORPHA:107	SIX5	147912	HP:0000402	Stenosis of the external auditory canal
ORPHA:107	SIX5	147912	HP:0009796	Branchial cyst
ORPHA:107	SIX5	147912	HP:0000384	Preauricular skin tag
ORPHA:107	SIX5	147912	HP:0011388	Enlarged cochlear aqueduct
ORPHA:107	SIX5	147912	HP:0000413	Atresia of the external auditory canal
ORPHA:107	SIX1	6495	HP:0004452	Abnormality of the middle ear ossicles
ORPHA:107	SIX1	6495	HP:0008678	Renal hypoplasia/aplasia
ORPHA:107	SIX1	6495	HP:0000365	Hearing impairment
ORPHA:107	SIX1	6495	HP:0008586	Hypoplasia of the cochlea
ORPHA:107	SIX1	6495	HP:0008572	External ear malformation
ORPHA:107	SIX1	6495	HP:0000402	Stenosis of the external auditory canal
ORPHA:107	SIX1	6495	HP:0009796	Branchial cyst
ORPHA:107	SIX1	6495	HP:0000384	Preauricular skin tag
ORPHA:107	SIX1	6495	HP:0011388	Enlarged cochlear aqueduct
ORPHA:107	SIX1	6495	HP:0000413	Atresia of the external auditory canal
OMIM:616763	PLEKHG2	64857	HP:0010864	Intellectual disability, severe
OMIM:616763	PLEKHG2	64857	HP:0000007	Autosomal recessive inheritance
OMIM:616763	PLEKHG2	64857	HP:0007204	Diffuse white matter abnormalities
OMIM:616763	PLEKHG2	64857	HP:0005484	Postnatal microcephaly
OMIM:616763	PLEKHG2	64857	HP:0002415	Leukodystrophy
OMIM:616763	PLEKHG2	64857	HP:0003593	Infantile onset
OMIM:193500	PAX3	5077	HP:0002211	White forelock
OMIM:193500	PAX3	5077	HP:0000006	Autosomal dominant inheritance
OMIM:193500	PAX3	5077	HP:0000202	Oral cleft
OMIM:193500	PAX3	5077	HP:0002216	Premature graying of hair
OMIM:193500	PAX3	5077	HP:0002946	Supernumerary vertebrae
OMIM:193500	PAX3	5077	HP:0000574	Thick eyebrow
OMIM:193500	PAX3	5077	HP:0001100	Heterochromia iridis
OMIM:193500	PAX3	5077	HP:0007990	Hypoplastic iris stroma
OMIM:193500	PAX3	5077	HP:0000319	Smooth philtrum
OMIM:193500	PAX3	5077	HP:0007894	Hypopigmentation of the fundus
OMIM:193500	PAX3	5077	HP:0000316	Hypertelorism
OMIM:193500	PAX3	5077	HP:0000506	Telecanthus
OMIM:193500	PAX3	5077	HP:0007443	Partial albinism
OMIM:193500	PAX3	5077	HP:0000581	Blepharophimosis
OMIM:193500	PAX3	5077	HP:0000912	Sprengel anomaly
OMIM:193500	PAX3	5077	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193500	PAX3	5077	HP:0000430	Underdeveloped nasal alae
OMIM:193500	PAX3	5077	HP:0000664	Synophrys
OMIM:193500	PAX3	5077	HP:0005815	Supernumerary ribs
OMIM:193500	PAX3	5077	HP:0000431	Wide nasal bridge
OMIM:193500	PAX3	5077	HP:0000303	Mandibular prognathia
OMIM:193500	PAX3	5077	HP:0002227	White eyelashes
OMIM:193500	PAX3	5077	HP:0003250	Aplasia of the vagina
OMIM:193500	PAX3	5077	HP:0002226	White eyebrow
OMIM:214400	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:214400	GDAP1	54332	HP:0003382	Hypertrophic nerve changes
OMIM:214400	GDAP1	54332	HP:0001270	Motor delay
OMIM:214400	GDAP1	54332	HP:0001425	Heterogeneous
OMIM:214400	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:214400	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:214400	GDAP1	54332	HP:0003593	Infantile onset
OMIM:214400	GDAP1	54332	HP:0001765	Hammertoe
OMIM:214400	GDAP1	54332	HP:0003400	Basal lamina 'onion bulb' formation
OMIM:214400	GDAP1	54332	HP:0001178	Ulnar claw
OMIM:214400	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:214400	GDAP1	54332	HP:0000764	Peripheral axonal degeneration
OMIM:214400	GDAP1	54332	HP:0002751	Kyphoscoliosis
OMIM:214400	GDAP1	54332	HP:0007182	Peripheral hypomyelination
OMIM:214400	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:214400	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:214400	GDAP1	54332	HP:0001265	Hyporeflexia
OMIM:214400	GDAP1	54332	HP:0003678	Rapidly progressive
OMIM:214400	GDAP1	54332	HP:0003429	CNS hypomyelination
OMIM:214400	GDAP1	54332	HP:0001171	Split hand
OMIM:214400	GDAP1	54332	HP:0001284	Areflexia
OMIM:214400	GDAP1	54332	HP:0006915	Inability to walk by childhood/adolescence
OMIM:105650	RPS19	6223	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS19	6223	HP:0000218	High palate
OMIM:105650	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS19	6223	HP:0001622	Premature birth
OMIM:105650	RPS19	6223	HP:0001631	Atrial septal defect
OMIM:105650	RPS19	6223	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS19	6223	HP:0003003	Colon cancer
OMIM:105650	RPS19	6223	HP:0000316	Hypertelorism
OMIM:105650	RPS19	6223	HP:0009777	Absent thumb
OMIM:105650	RPS19	6223	HP:0001875	Neutropenia
OMIM:105650	RPS19	6223	HP:0008447	Hypoplastic coccygeal vertebrae
OMIM:105650	RPS19	6223	HP:0004810	Congenital hypoplastic anemia
OMIM:105650	RPS19	6223	HP:0000774	Narrow chest
OMIM:105650	RPS19	6223	HP:0001680	Coarctation of aorta
OMIM:105650	RPS19	6223	HP:0001894	Thrombocytosis
OMIM:105650	RPS19	6223	HP:0000980	Pallor
OMIM:105650	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:105650	RPS19	6223	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS19	6223	HP:0000878	11 pairs of ribs
OMIM:105650	RPS19	6223	HP:0008437	Bifid thoracic vertebrae
OMIM:105650	RPS19	6223	HP:0002669	Osteosarcoma
OMIM:105650	RPS19	6223	HP:0009944	Partial duplication of thumb phalanx
OMIM:105650	RPS19	6223	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS19	6223	HP:0000486	Strabismus
OMIM:105650	RPS19	6223	HP:0003593	Infantile onset
OMIM:105650	RPS19	6223	HP:0030270	Elevated red cell adenosine deaminase activity
OMIM:105650	RPS19	6223	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS19	6223	HP:0000252	Microcephaly
OMIM:105650	RPS19	6223	HP:0002863	Myelodysplasia
OMIM:105650	RPS19	6223	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS19	6223	HP:0001635	Congestive heart failure
OMIM:105650	RPS19	6223	HP:0001508	Failure to thrive
OMIM:105650	RPS19	6223	HP:0008475	Hypoplastic sacral vertebrae
OMIM:105650	RPS19	6223	HP:0000470	Short neck
OMIM:105650	RPS19	6223	HP:0009778	Short thumb
OMIM:105650	RPS19	6223	HP:0000465	Webbed neck
OMIM:105650	RPS19	6223	HP:0000204	Cleft upper lip
OMIM:105650	RPS19	6223	HP:0000175	Cleft palate
OMIM:105650	RPS19	6223	HP:0000347	Micrognathia
OMIM:105650	RPS19	6223	HP:0001629	Ventricular septal defect
OMIM:105650	RPS19	6223	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS19	6223	HP:0000278	Retrognathia
OMIM:105650	RPS19	6223	HP:0001873	Thrombocytopenia
OMIM:105650	RPS19	6223	HP:0002697	Parietal foramina
OMIM:105650	RPS19	6223	HP:0004322	Short stature
OMIM:600881	CRYBA1	1411	HP:0008031	Posterior Y-sutural cataract
OMIM:600881	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYBA1	1411	HP:0000519	Congenital cataract
OMIM:617294	KLHL24	54800	HP:0007435	Diffuse palmoplantar keratoderma
OMIM:617294	KLHL24	54800	HP:0001810	Dystrophic toenail
OMIM:617294	KLHL24	54800	HP:0002231	Sparse body hair
OMIM:617294	KLHL24	54800	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SCN1B	6324	HP:0012251	ST segment elevation
OMIM:612838	SCN1B	6324	HP:0001663	Ventricular fibrillation
OMIM:612838	SCN1B	6324	HP:0011710	Bundle branch block
OMIM:612838	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
ORPHA:316	KRT83	3889	HP:0010783	Erythema
ORPHA:316	KRT83	3889	HP:0200035	Skin plaque
ORPHA:316	KRT83	3889	HP:0000982	Palmoplantar keratoderma
ORPHA:316	KDSR	2531	HP:0010783	Erythema
ORPHA:316	KDSR	2531	HP:0200035	Skin plaque
ORPHA:316	KDSR	2531	HP:0000982	Palmoplantar keratoderma
ORPHA:316	LOR	4014	HP:0010783	Erythema
ORPHA:316	LOR	4014	HP:0200035	Skin plaque
ORPHA:316	LOR	4014	HP:0000982	Palmoplantar keratoderma
OMIM:260370	PDX1	3651	HP:0000007	Autosomal recessive inheritance
OMIM:260370	PDX1	3651	HP:0000857	Neonatal insulin-dependent diabetes mellitus
OMIM:260370	PDX1	3651	HP:0002594	Pancreatic hypoplasia
OMIM:260370	PDX1	3651	HP:0001508	Failure to thrive
OMIM:260370	PDX1	3651	HP:0001738	Exocrine pancreatic insufficiency
OMIM:260370	PDX1	3651	HP:0001511	Intrauterine growth retardation
OMIM:133780	FZD4	8322	HP:0030666	Retinal neovascularization
OMIM:133780	FZD4	8322	HP:0000541	Retinal detachment
OMIM:133780	FZD4	8322	HP:0030490	Exudative vitreoretinopathy
OMIM:133780	FZD4	8322	HP:0001147	Retinal exudate
OMIM:133780	FZD4	8322	HP:0001489	Posterior vitreous detachment
OMIM:133780	FZD4	8322	HP:0001493	Falciform retinal fold
OMIM:133780	FZD4	8322	HP:0003677	Slow progression
OMIM:133780	FZD4	8322	HP:0000523	Subcapsular cataract
OMIM:133780	FZD4	8322	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	FZD4	8322	HP:0003593	Infantile onset
OMIM:133780	FZD4	8322	HP:0007902	Vitreous hemorrhage
OMIM:133780	FZD4	8322	HP:0000006	Autosomal dominant inheritance
OMIM:133780	FZD4	8322	HP:0000618	Blindness
OMIM:133780	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:133780	FZD4	8322	HP:0007685	Peripheral retinal avascularization
OMIM:133780	FZD4	8322	HP:0002757	Recurrent fractures
OMIM:133780	LRP5	4041	HP:0030666	Retinal neovascularization
OMIM:133780	LRP5	4041	HP:0000541	Retinal detachment
OMIM:133780	LRP5	4041	HP:0030490	Exudative vitreoretinopathy
OMIM:133780	LRP5	4041	HP:0001147	Retinal exudate
OMIM:133780	LRP5	4041	HP:0001489	Posterior vitreous detachment
OMIM:133780	LRP5	4041	HP:0001493	Falciform retinal fold
OMIM:133780	LRP5	4041	HP:0003677	Slow progression
OMIM:133780	LRP5	4041	HP:0000523	Subcapsular cataract
OMIM:133780	LRP5	4041	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	LRP5	4041	HP:0003593	Infantile onset
OMIM:133780	LRP5	4041	HP:0007902	Vitreous hemorrhage
OMIM:133780	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:133780	LRP5	4041	HP:0000618	Blindness
OMIM:133780	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:133780	LRP5	4041	HP:0007685	Peripheral retinal avascularization
OMIM:133780	LRP5	4041	HP:0002757	Recurrent fractures
OMIM:608470	TGFBI	7045	HP:0200020	Corneal erosion
OMIM:608470	TGFBI	7045	HP:0000613	Photophobia
OMIM:608470	TGFBI	7045	HP:0007759	Opacification of the corneal stroma
OMIM:608470	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:608470	TGFBI	7045	HP:0000486	Strabismus
OMIM:608470	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:233910	GCH1	2643	HP:0000737	Irritability
OMIM:233910	GCH1	2643	HP:0001337	Tremor
OMIM:233910	GCH1	2643	HP:0000496	Abnormality of eye movement
OMIM:233910	GCH1	2643	HP:0001954	Episodic fever
OMIM:233910	GCH1	2643	HP:0002487	Hyperkinesis
OMIM:233910	GCH1	2643	HP:0003828	Variable expressivity
OMIM:233910	GCH1	2643	HP:0006887	Intellectual disability, progressive
OMIM:233910	GCH1	2643	HP:0001254	Lethargy
OMIM:233910	GCH1	2643	HP:0001266	Choreoathetosis
OMIM:233910	GCH1	2643	HP:0002015	Dysphagia
OMIM:233910	GCH1	2643	HP:0001263	Global developmental delay
OMIM:233910	GCH1	2643	HP:0002344	Progressive neurologic deterioration
OMIM:233910	GCH1	2643	HP:0001250	Seizures
OMIM:233910	GCH1	2643	HP:0006829	Severe muscular hypotonia
OMIM:233910	GCH1	2643	HP:0002063	Rigidity
OMIM:233910	GCH1	2643	HP:0002509	Limb hypertonia
OMIM:233910	GCH1	2643	HP:0004923	Hyperphenylalaninemia
OMIM:233910	GCH1	2643	HP:0000007	Autosomal recessive inheritance
OMIM:233910	GCH1	2643	HP:0001332	Dystonia
OMIM:233910	GCH1	2643	HP:0003593	Infantile onset
OMIM:233910	GCH1	2643	HP:0003781	Excessive salivation
OMIM:614222	RAB18	22931	HP:0000568	Microphthalmia
OMIM:614222	RAB18	22931	HP:0005484	Postnatal microcephaly
OMIM:614222	RAB18	22931	HP:0000189	Narrow palate
OMIM:614222	RAB18	22931	HP:0011448	Ankle clonus
OMIM:614222	RAB18	22931	HP:0000294	Low anterior hairline
OMIM:614222	RAB18	22931	HP:0000639	Nystagmus
OMIM:614222	RAB18	22931	HP:0000648	Optic atrophy
OMIM:614222	RAB18	22931	HP:0000252	Microcephaly
OMIM:614222	RAB18	22931	HP:0000581	Blepharophimosis
OMIM:614222	RAB18	22931	HP:0002120	Cerebral cortical atrophy
OMIM:614222	RAB18	22931	HP:0002714	Downturned corners of mouth
OMIM:614222	RAB18	22931	HP:0000046	Scrotal hypoplasia
OMIM:614222	RAB18	22931	HP:0004209	Clinodactyly of the 5th finger
OMIM:614222	RAB18	22931	HP:0000248	Brachycephaly
OMIM:614222	RAB18	22931	HP:0000400	Macrotia
OMIM:614222	RAB18	22931	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614222	RAB18	22931	HP:0000007	Autosomal recessive inheritance
OMIM:614222	RAB18	22931	HP:0000347	Micrognathia
OMIM:614222	RAB18	22931	HP:0003196	Short nose
OMIM:614222	RAB18	22931	HP:0002119	Ventriculomegaly
OMIM:614222	RAB18	22931	HP:0002187	Intellectual disability, profound
OMIM:614222	RAB18	22931	HP:0000594	Shallow anterior chamber
OMIM:614222	RAB18	22931	HP:0001371	Flexion contracture
OMIM:614222	RAB18	22931	HP:0000518	Cataract
OMIM:614222	RAB18	22931	HP:0000054	Micropenis
OMIM:614222	RAB18	22931	HP:0008897	Postnatal growth retardation
OMIM:614222	RAB18	22931	HP:0001250	Seizures
OMIM:614222	RAB18	22931	HP:0008734	Decreased testicular size
OMIM:614222	RAB18	22931	HP:0002126	Polymicrogyria
OMIM:614222	RAB18	22931	HP:0008936	Muscular hypotonia of the trunk
OMIM:614222	RAB18	22931	HP:0000482	Microcornea
OMIM:614222	RAB18	22931	HP:0000519	Congenital cataract
OMIM:614222	RAB18	22931	HP:0002510	Spastic tetraplegia
OMIM:614222	RAB18	22931	HP:0002751	Kyphoscoliosis
OMIM:605676	DSP	1832	HP:0001644	Dilated cardiomyopathy
OMIM:605676	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:605676	DSP	1832	HP:0009804	Reduced number of teeth
OMIM:605676	DSP	1832	HP:0001635	Congestive heart failure
OMIM:605676	DSP	1832	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:605676	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:605676	DSP	1832	HP:0000007	Autosomal recessive inheritance
OMIM:605676	DSP	1832	HP:0002224	Woolly hair
OMIM:616258	KIF14	9928	HP:0000252	Microcephaly
OMIM:616258	KIF14	9928	HP:0006872	Cerebral hypoplasia
OMIM:616258	KIF14	9928	HP:0001274	Agenesis of corpus callosum
OMIM:616258	KIF14	9928	HP:0000340	Sloping forehead
OMIM:616258	KIF14	9928	HP:0000089	Renal hypoplasia
OMIM:616258	KIF14	9928	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616258	KIF14	9928	HP:0000104	Renal agenesis
OMIM:616258	KIF14	9928	HP:0001511	Intrauterine growth retardation
OMIM:616258	KIF14	9928	HP:0001321	Cerebellar hypoplasia
OMIM:616258	KIF14	9928	HP:0001562	Oligohydramnios
OMIM:616258	KIF14	9928	HP:0000007	Autosomal recessive inheritance
OMIM:616258	KIF14	9928	HP:0001838	Rocker bottom foot
ORPHA:85212	GBA	2629	HP:0005280	Depressed nasal bridge
ORPHA:85212	GBA	2629	HP:0003826	Stillbirth
ORPHA:85212	GBA	2629	HP:0000218	High palate
ORPHA:85212	GBA	2629	HP:0003811	Neonatal death
ORPHA:85212	GBA	2629	HP:0001252	Muscular hypotonia
ORPHA:85212	GBA	2629	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:85212	GBA	2629	HP:0001250	Seizures
ORPHA:85212	GBA	2629	HP:0002240	Hepatomegaly
ORPHA:85212	GBA	2629	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:85212	GBA	2629	HP:0001876	Pancytopenia
ORPHA:85212	GBA	2629	HP:0001789	Hydrops fetalis
ORPHA:85212	GBA	2629	HP:0000463	Anteverted nares
ORPHA:85212	GBA	2629	HP:0001522	Death in infancy
ORPHA:85212	GBA	2629	HP:0000656	Ectropion
ORPHA:85212	GBA	2629	HP:0001989	Fetal akinesia sequence
ORPHA:85212	GBA	2629	HP:0001276	Hypertonia
ORPHA:85212	GBA	2629	HP:0001744	Splenomegaly
ORPHA:85212	GBA	2629	HP:0002170	Intracranial hemorrhage
ORPHA:85212	GBA	2629	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
ORPHA:85212	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:232240	SLC37A4	2542	HP:0002092	Pulmonary arterial hypertension
OMIM:232240	SLC37A4	2542	HP:0012522	Spider hemangioma
OMIM:232240	SLC37A4	2542	HP:0001943	Hypoglycemia
OMIM:232240	SLC37A4	2542	HP:0000083	Renal insufficiency
OMIM:232240	SLC37A4	2542	HP:0000822	Hypertension
OMIM:232240	SLC37A4	2542	HP:0001997	Gout
OMIM:232240	SLC37A4	2542	HP:0012213	Decreased glomerular filtration rate
OMIM:232240	SLC37A4	2542	HP:0000093	Proteinuria
OMIM:232240	SLC37A4	2542	HP:0003077	Hyperlipidemia
OMIM:232240	SLC37A4	2542	HP:0001402	Hepatocellular carcinoma
OMIM:232240	SLC37A4	2542	HP:0000007	Autosomal recessive inheritance
OMIM:232240	SLC37A4	2542	HP:0003128	Lactic acidosis
OMIM:232240	SLC37A4	2542	HP:0000823	Delayed puberty
OMIM:232240	SLC37A4	2542	HP:0001114	Xanthelasma
OMIM:232240	SLC37A4	2542	HP:0000790	Hematuria
OMIM:232240	SLC37A4	2542	HP:0001942	Metabolic acidosis
OMIM:232240	SLC37A4	2542	HP:0001946	Ketosis
OMIM:232240	SLC37A4	2542	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232240	SLC37A4	2542	HP:0006280	Chronic pancreatitis
OMIM:232240	SLC37A4	2542	HP:0002240	Hepatomegaly
OMIM:232240	SLC37A4	2542	HP:0002884	Hepatoblastoma
ORPHA:144	PMS1	5378	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	PMS1	5378	HP:0000739	Anxiety
ORPHA:144	PMS1	5378	HP:0001824	Weight loss
ORPHA:144	PMS1	5378	HP:0002076	Migraine
ORPHA:144	PMS1	5378	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	PMS1	5378	HP:0100743	Neoplasm of the rectum
ORPHA:144	PMS1	5378	HP:0002024	Malabsorption
ORPHA:144	PMS1	5378	HP:0001252	Muscular hypotonia
ORPHA:144	PMS1	5378	HP:0002516	Increased intracranial pressure
ORPHA:144	PMS1	5378	HP:0001276	Hypertonia
ORPHA:144	PMS1	5378	HP:0001522	Death in infancy
ORPHA:144	PMS1	5378	HP:0001250	Seizures
ORPHA:144	PMS1	5378	HP:0002019	Constipation
ORPHA:144	PMS1	5378	HP:0100613	Death in early adulthood
ORPHA:144	PMS1	5378	HP:0012378	Fatigue
ORPHA:144	PMS1	5378	HP:0000737	Irritability
ORPHA:144	PMS1	5378	HP:0000716	Depressivity
ORPHA:144	PMS1	5378	HP:0002017	Nausea and vomiting
ORPHA:144	PMS1	5378	HP:0002027	Abdominal pain
ORPHA:144	PMS1	5378	HP:0100843	Glioblastoma
ORPHA:144	PMS1	5378	HP:0003003	Colon cancer
ORPHA:144	PMS2	5395	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	PMS2	5395	HP:0000739	Anxiety
ORPHA:144	PMS2	5395	HP:0001824	Weight loss
ORPHA:144	PMS2	5395	HP:0002076	Migraine
ORPHA:144	PMS2	5395	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	PMS2	5395	HP:0100743	Neoplasm of the rectum
ORPHA:144	PMS2	5395	HP:0002024	Malabsorption
ORPHA:144	PMS2	5395	HP:0001252	Muscular hypotonia
ORPHA:144	PMS2	5395	HP:0002516	Increased intracranial pressure
ORPHA:144	PMS2	5395	HP:0001276	Hypertonia
ORPHA:144	PMS2	5395	HP:0001522	Death in infancy
ORPHA:144	PMS2	5395	HP:0001250	Seizures
ORPHA:144	PMS2	5395	HP:0002019	Constipation
ORPHA:144	PMS2	5395	HP:0100613	Death in early adulthood
ORPHA:144	PMS2	5395	HP:0012378	Fatigue
ORPHA:144	PMS2	5395	HP:0000737	Irritability
ORPHA:144	PMS2	5395	HP:0000716	Depressivity
ORPHA:144	PMS2	5395	HP:0002017	Nausea and vomiting
ORPHA:144	PMS2	5395	HP:0002027	Abdominal pain
ORPHA:144	PMS2	5395	HP:0100843	Glioblastoma
ORPHA:144	PMS2	5395	HP:0003003	Colon cancer
ORPHA:144	MLH1	4292	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	MLH1	4292	HP:0000739	Anxiety
ORPHA:144	MLH1	4292	HP:0001824	Weight loss
ORPHA:144	MLH1	4292	HP:0002076	Migraine
ORPHA:144	MLH1	4292	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	MLH1	4292	HP:0100743	Neoplasm of the rectum
ORPHA:144	MLH1	4292	HP:0002024	Malabsorption
ORPHA:144	MLH1	4292	HP:0001252	Muscular hypotonia
ORPHA:144	MLH1	4292	HP:0002516	Increased intracranial pressure
ORPHA:144	MLH1	4292	HP:0001276	Hypertonia
ORPHA:144	MLH1	4292	HP:0001522	Death in infancy
ORPHA:144	MLH1	4292	HP:0001250	Seizures
ORPHA:144	MLH1	4292	HP:0002019	Constipation
ORPHA:144	MLH1	4292	HP:0100613	Death in early adulthood
ORPHA:144	MLH1	4292	HP:0012378	Fatigue
ORPHA:144	MLH1	4292	HP:0000737	Irritability
ORPHA:144	MLH1	4292	HP:0000716	Depressivity
ORPHA:144	MLH1	4292	HP:0002017	Nausea and vomiting
ORPHA:144	MLH1	4292	HP:0002027	Abdominal pain
ORPHA:144	MLH1	4292	HP:0100843	Glioblastoma
ORPHA:144	MLH1	4292	HP:0003003	Colon cancer
ORPHA:144	MSH2	4436	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	MSH2	4436	HP:0000739	Anxiety
ORPHA:144	MSH2	4436	HP:0001824	Weight loss
ORPHA:144	MSH2	4436	HP:0002076	Migraine
ORPHA:144	MSH2	4436	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	MSH2	4436	HP:0100743	Neoplasm of the rectum
ORPHA:144	MSH2	4436	HP:0002024	Malabsorption
ORPHA:144	MSH2	4436	HP:0001252	Muscular hypotonia
ORPHA:144	MSH2	4436	HP:0002516	Increased intracranial pressure
ORPHA:144	MSH2	4436	HP:0001276	Hypertonia
ORPHA:144	MSH2	4436	HP:0001522	Death in infancy
ORPHA:144	MSH2	4436	HP:0001250	Seizures
ORPHA:144	MSH2	4436	HP:0002019	Constipation
ORPHA:144	MSH2	4436	HP:0100613	Death in early adulthood
ORPHA:144	MSH2	4436	HP:0012378	Fatigue
ORPHA:144	MSH2	4436	HP:0000737	Irritability
ORPHA:144	MSH2	4436	HP:0000716	Depressivity
ORPHA:144	MSH2	4436	HP:0002017	Nausea and vomiting
ORPHA:144	MSH2	4436	HP:0002027	Abdominal pain
ORPHA:144	MSH2	4436	HP:0100843	Glioblastoma
ORPHA:144	MSH2	4436	HP:0003003	Colon cancer
ORPHA:144	KRAS	3845	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	KRAS	3845	HP:0000739	Anxiety
ORPHA:144	KRAS	3845	HP:0001824	Weight loss
ORPHA:144	KRAS	3845	HP:0002076	Migraine
ORPHA:144	KRAS	3845	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	KRAS	3845	HP:0100743	Neoplasm of the rectum
ORPHA:144	KRAS	3845	HP:0002024	Malabsorption
ORPHA:144	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHA:144	KRAS	3845	HP:0002516	Increased intracranial pressure
ORPHA:144	KRAS	3845	HP:0001276	Hypertonia
ORPHA:144	KRAS	3845	HP:0001522	Death in infancy
ORPHA:144	KRAS	3845	HP:0001250	Seizures
ORPHA:144	KRAS	3845	HP:0002019	Constipation
ORPHA:144	KRAS	3845	HP:0100613	Death in early adulthood
ORPHA:144	KRAS	3845	HP:0012378	Fatigue
ORPHA:144	KRAS	3845	HP:0000737	Irritability
ORPHA:144	KRAS	3845	HP:0000716	Depressivity
ORPHA:144	KRAS	3845	HP:0002017	Nausea and vomiting
ORPHA:144	KRAS	3845	HP:0002027	Abdominal pain
ORPHA:144	KRAS	3845	HP:0100843	Glioblastoma
ORPHA:144	KRAS	3845	HP:0003003	Colon cancer
ORPHA:144	MLH3	27030	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	MLH3	27030	HP:0000739	Anxiety
ORPHA:144	MLH3	27030	HP:0001824	Weight loss
ORPHA:144	MLH3	27030	HP:0002076	Migraine
ORPHA:144	MLH3	27030	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	MLH3	27030	HP:0100743	Neoplasm of the rectum
ORPHA:144	MLH3	27030	HP:0002024	Malabsorption
ORPHA:144	MLH3	27030	HP:0001252	Muscular hypotonia
ORPHA:144	MLH3	27030	HP:0002516	Increased intracranial pressure
ORPHA:144	MLH3	27030	HP:0001276	Hypertonia
ORPHA:144	MLH3	27030	HP:0001522	Death in infancy
ORPHA:144	MLH3	27030	HP:0001250	Seizures
ORPHA:144	MLH3	27030	HP:0002019	Constipation
ORPHA:144	MLH3	27030	HP:0100613	Death in early adulthood
ORPHA:144	MLH3	27030	HP:0012378	Fatigue
ORPHA:144	MLH3	27030	HP:0000737	Irritability
ORPHA:144	MLH3	27030	HP:0000716	Depressivity
ORPHA:144	MLH3	27030	HP:0002017	Nausea and vomiting
ORPHA:144	MLH3	27030	HP:0002027	Abdominal pain
ORPHA:144	MLH3	27030	HP:0100843	Glioblastoma
ORPHA:144	MLH3	27030	HP:0003003	Colon cancer
ORPHA:144	TGFBR2	7048	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	TGFBR2	7048	HP:0000739	Anxiety
ORPHA:144	TGFBR2	7048	HP:0001824	Weight loss
ORPHA:144	TGFBR2	7048	HP:0002076	Migraine
ORPHA:144	TGFBR2	7048	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	TGFBR2	7048	HP:0100743	Neoplasm of the rectum
ORPHA:144	TGFBR2	7048	HP:0002024	Malabsorption
ORPHA:144	TGFBR2	7048	HP:0001252	Muscular hypotonia
ORPHA:144	TGFBR2	7048	HP:0002516	Increased intracranial pressure
ORPHA:144	TGFBR2	7048	HP:0001276	Hypertonia
ORPHA:144	TGFBR2	7048	HP:0001522	Death in infancy
ORPHA:144	TGFBR2	7048	HP:0001250	Seizures
ORPHA:144	TGFBR2	7048	HP:0002019	Constipation
ORPHA:144	TGFBR2	7048	HP:0100613	Death in early adulthood
ORPHA:144	TGFBR2	7048	HP:0012378	Fatigue
ORPHA:144	TGFBR2	7048	HP:0000737	Irritability
ORPHA:144	TGFBR2	7048	HP:0000716	Depressivity
ORPHA:144	TGFBR2	7048	HP:0002017	Nausea and vomiting
ORPHA:144	TGFBR2	7048	HP:0002027	Abdominal pain
ORPHA:144	TGFBR2	7048	HP:0100843	Glioblastoma
ORPHA:144	TGFBR2	7048	HP:0003003	Colon cancer
ORPHA:144	EPCAM	4072	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	EPCAM	4072	HP:0000739	Anxiety
ORPHA:144	EPCAM	4072	HP:0001824	Weight loss
ORPHA:144	EPCAM	4072	HP:0002076	Migraine
ORPHA:144	EPCAM	4072	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	EPCAM	4072	HP:0100743	Neoplasm of the rectum
ORPHA:144	EPCAM	4072	HP:0002024	Malabsorption
ORPHA:144	EPCAM	4072	HP:0001252	Muscular hypotonia
ORPHA:144	EPCAM	4072	HP:0002516	Increased intracranial pressure
ORPHA:144	EPCAM	4072	HP:0001276	Hypertonia
ORPHA:144	EPCAM	4072	HP:0001522	Death in infancy
ORPHA:144	EPCAM	4072	HP:0001250	Seizures
ORPHA:144	EPCAM	4072	HP:0002019	Constipation
ORPHA:144	EPCAM	4072	HP:0100613	Death in early adulthood
ORPHA:144	EPCAM	4072	HP:0012378	Fatigue
ORPHA:144	EPCAM	4072	HP:0000737	Irritability
ORPHA:144	EPCAM	4072	HP:0000716	Depressivity
ORPHA:144	EPCAM	4072	HP:0002017	Nausea and vomiting
ORPHA:144	EPCAM	4072	HP:0002027	Abdominal pain
ORPHA:144	EPCAM	4072	HP:0100843	Glioblastoma
ORPHA:144	EPCAM	4072	HP:0003003	Colon cancer
ORPHA:144	PIK3CA	5290	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	PIK3CA	5290	HP:0000739	Anxiety
ORPHA:144	PIK3CA	5290	HP:0001824	Weight loss
ORPHA:144	PIK3CA	5290	HP:0002076	Migraine
ORPHA:144	PIK3CA	5290	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	PIK3CA	5290	HP:0100743	Neoplasm of the rectum
ORPHA:144	PIK3CA	5290	HP:0002024	Malabsorption
ORPHA:144	PIK3CA	5290	HP:0001252	Muscular hypotonia
ORPHA:144	PIK3CA	5290	HP:0002516	Increased intracranial pressure
ORPHA:144	PIK3CA	5290	HP:0001276	Hypertonia
ORPHA:144	PIK3CA	5290	HP:0001522	Death in infancy
ORPHA:144	PIK3CA	5290	HP:0001250	Seizures
ORPHA:144	PIK3CA	5290	HP:0002019	Constipation
ORPHA:144	PIK3CA	5290	HP:0100613	Death in early adulthood
ORPHA:144	PIK3CA	5290	HP:0012378	Fatigue
ORPHA:144	PIK3CA	5290	HP:0000737	Irritability
ORPHA:144	PIK3CA	5290	HP:0000716	Depressivity
ORPHA:144	PIK3CA	5290	HP:0002017	Nausea and vomiting
ORPHA:144	PIK3CA	5290	HP:0002027	Abdominal pain
ORPHA:144	PIK3CA	5290	HP:0100843	Glioblastoma
ORPHA:144	PIK3CA	5290	HP:0003003	Colon cancer
ORPHA:144	MSH6	2956	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	MSH6	2956	HP:0000739	Anxiety
ORPHA:144	MSH6	2956	HP:0001824	Weight loss
ORPHA:144	MSH6	2956	HP:0002076	Migraine
ORPHA:144	MSH6	2956	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	MSH6	2956	HP:0100743	Neoplasm of the rectum
ORPHA:144	MSH6	2956	HP:0002024	Malabsorption
ORPHA:144	MSH6	2956	HP:0001252	Muscular hypotonia
ORPHA:144	MSH6	2956	HP:0002516	Increased intracranial pressure
ORPHA:144	MSH6	2956	HP:0001276	Hypertonia
ORPHA:144	MSH6	2956	HP:0001522	Death in infancy
ORPHA:144	MSH6	2956	HP:0001250	Seizures
ORPHA:144	MSH6	2956	HP:0002019	Constipation
ORPHA:144	MSH6	2956	HP:0100613	Death in early adulthood
ORPHA:144	MSH6	2956	HP:0012378	Fatigue
ORPHA:144	MSH6	2956	HP:0000737	Irritability
ORPHA:144	MSH6	2956	HP:0000716	Depressivity
ORPHA:144	MSH6	2956	HP:0002017	Nausea and vomiting
ORPHA:144	MSH6	2956	HP:0002027	Abdominal pain
ORPHA:144	MSH6	2956	HP:0100843	Glioblastoma
ORPHA:144	MSH6	2956	HP:0003003	Colon cancer
ORPHA:144	FAN1	22909	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:144	FAN1	22909	HP:0000739	Anxiety
ORPHA:144	FAN1	22909	HP:0001824	Weight loss
ORPHA:144	FAN1	22909	HP:0002076	Migraine
ORPHA:144	FAN1	22909	HP:0002239	Gastrointestinal hemorrhage
ORPHA:144	FAN1	22909	HP:0100743	Neoplasm of the rectum
ORPHA:144	FAN1	22909	HP:0002024	Malabsorption
ORPHA:144	FAN1	22909	HP:0001252	Muscular hypotonia
ORPHA:144	FAN1	22909	HP:0002516	Increased intracranial pressure
ORPHA:144	FAN1	22909	HP:0001276	Hypertonia
ORPHA:144	FAN1	22909	HP:0001522	Death in infancy
ORPHA:144	FAN1	22909	HP:0001250	Seizures
ORPHA:144	FAN1	22909	HP:0002019	Constipation
ORPHA:144	FAN1	22909	HP:0100613	Death in early adulthood
ORPHA:144	FAN1	22909	HP:0012378	Fatigue
ORPHA:144	FAN1	22909	HP:0000737	Irritability
ORPHA:144	FAN1	22909	HP:0000716	Depressivity
ORPHA:144	FAN1	22909	HP:0002017	Nausea and vomiting
ORPHA:144	FAN1	22909	HP:0002027	Abdominal pain
ORPHA:144	FAN1	22909	HP:0100843	Glioblastoma
ORPHA:144	FAN1	22909	HP:0003003	Colon cancer
ORPHA:85278	SLC9A6	10479	HP:0001332	Dystonia
ORPHA:85278	SLC9A6	10479	HP:0000733	Stereotypy
ORPHA:85278	SLC9A6	10479	HP:0000717	Autism
ORPHA:85278	SLC9A6	10479	HP:0000252	Microcephaly
ORPHA:85278	SLC9A6	10479	HP:0000602	Ophthalmoplegia
ORPHA:85278	SLC9A6	10479	HP:0100024	Conspicuously happy disposition
ORPHA:85278	SLC9A6	10479	HP:0002300	Mutism
ORPHA:85278	SLC9A6	10479	HP:0002187	Intellectual disability, profound
ORPHA:85278	SLC9A6	10479	HP:0002197	Generalized seizures
ORPHA:85278	SLC9A6	10479	HP:0000748	Inappropriate laughter
ORPHA:85278	SLC9A6	10479	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:85278	SLC9A6	10479	HP:0002015	Dysphagia
ORPHA:85278	SLC9A6	10479	HP:0011344	Severe global developmental delay
ORPHA:85278	SLC9A6	10479	HP:0000639	Nystagmus
ORPHA:85278	SLC9A6	10479	HP:0004326	Cachexia
ORPHA:85278	SLC9A6	10479	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:85278	SLC9A6	10479	HP:0001344	Absent speech
ORPHA:85278	SLC9A6	10479	HP:0008872	Feeding difficulties in infancy
ORPHA:85278	SLC9A6	10479	HP:0000275	Narrow face
ORPHA:85278	SLC9A6	10479	HP:0001272	Cerebellar atrophy
ORPHA:85278	SLC9A6	10479	HP:0000276	Long face
ORPHA:85278	SLC9A6	10479	HP:0000574	Thick eyebrow
ORPHA:85278	SLC9A6	10479	HP:0001181	Adducted thumb
ORPHA:85278	SLC9A6	10479	HP:0002078	Truncal ataxia
ORPHA:85278	SLC9A6	10479	HP:0002376	Developmental regression
ORPHA:85278	SLC9A6	10479	HP:0000486	Strabismus
ORPHA:85278	SLC9A6	10479	HP:0000767	Pectus excavatum
ORPHA:85278	SLC9A6	10479	HP:0000400	Macrotia
ORPHA:85278	SLC9A6	10479	HP:0002066	Gait ataxia
ORPHA:85278	SLC9A6	10479	HP:0002020	Gastroesophageal reflux
ORPHA:85278	SLC9A6	10479	HP:0002529	Neuronal loss in central nervous system
ORPHA:85278	SLC9A6	10479	HP:0002119	Ventriculomegaly
ORPHA:85278	SLC9A6	10479	HP:0002120	Cerebral cortical atrophy
OMIM:613630	CHUK	1147	HP:0001539	Omphalocele
OMIM:613630	CHUK	1147	HP:0009892	Anotia
OMIM:613630	CHUK	1147	HP:0000252	Microcephaly
OMIM:613630	CHUK	1147	HP:0009824	Upper limb undergrowth
OMIM:613630	CHUK	1147	HP:0010808	Protruding tongue
OMIM:613630	CHUK	1147	HP:0000042	Absent external genitalia
OMIM:613630	CHUK	1147	HP:0009816	Lower limb undergrowth
OMIM:613630	CHUK	1147	HP:0000007	Autosomal recessive inheritance
OMIM:613630	CHUK	1147	HP:0009939	Mandibular aplasia
OMIM:613630	CHUK	1147	HP:0000963	Thin skin
OMIM:613630	CHUK	1147	HP:0011136	Aplasia of the sweat glands
OMIM:605711	NFU1	27247	HP:0002878	Respiratory failure
OMIM:605711	NFU1	27247	HP:0001254	Lethargy
OMIM:605711	NFU1	27247	HP:0002092	Pulmonary arterial hypertension
OMIM:605711	NFU1	27247	HP:0011968	Feeding difficulties
OMIM:605711	NFU1	27247	HP:0003128	Lactic acidosis
OMIM:605711	NFU1	27247	HP:0001263	Global developmental delay
OMIM:605711	NFU1	27247	HP:0001508	Failure to thrive
OMIM:605711	NFU1	27247	HP:0001324	Muscle weakness
OMIM:605711	NFU1	27247	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:605711	NFU1	27247	HP:0000007	Autosomal recessive inheritance
OMIM:205950	SLC25A38	54977	HP:0001903	Anemia
OMIM:205950	SLC25A38	54977	HP:0025066	Decreased mean corpuscular volume
OMIM:205950	SLC25A38	54977	HP:0003281	Increased serum ferritin
OMIM:205950	SLC25A38	54977	HP:0003593	Infantile onset
OMIM:205950	SLC25A38	54977	HP:0000007	Autosomal recessive inheritance
OMIM:205950	SLC25A38	54977	HP:0001425	Heterogeneous
OMIM:205950	GLRX5	51218	HP:0001903	Anemia
OMIM:205950	GLRX5	51218	HP:0025066	Decreased mean corpuscular volume
OMIM:205950	GLRX5	51218	HP:0003281	Increased serum ferritin
OMIM:205950	GLRX5	51218	HP:0003593	Infantile onset
OMIM:205950	GLRX5	51218	HP:0000007	Autosomal recessive inheritance
OMIM:205950	GLRX5	51218	HP:0001425	Heterogeneous
OMIM:251750	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:251750	LTBP2	4053	HP:0000485	Megalocornea
OMIM:251750	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:251750	LTBP2	4053	HP:0030961	Microspherophakia
ORPHA:171	MST1	4485	HP:0010638	Elevated alkaline phosphatase of hepatic origin
ORPHA:171	MST1	4485	HP:0001433	Hepatosplenomegaly
ORPHA:171	MST1	4485	HP:0001824	Weight loss
ORPHA:171	MST1	4485	HP:0001409	Portal hypertension
ORPHA:171	MST1	4485	HP:0002240	Hepatomegaly
ORPHA:171	MST1	4485	HP:0002910	Elevated hepatic transaminases
ORPHA:171	MST1	4485	HP:0100279	Ulcerative colitis
ORPHA:171	MST1	4485	HP:0001395	Hepatic fibrosis
ORPHA:171	MST1	4485	HP:0012700	Abnormal large intestine physiology
ORPHA:171	MST1	4485	HP:0001744	Splenomegaly
ORPHA:171	MST1	4485	HP:0001394	Cirrhosis
ORPHA:171	MST1	4485	HP:0030168	Dilated superficial abdominal veins
ORPHA:171	MST1	4485	HP:0001945	Fever
ORPHA:171	MST1	4485	HP:0012522	Spider hemangioma
ORPHA:171	MST1	4485	HP:0100869	Palmar telangiectasia
ORPHA:171	MST1	4485	HP:0001541	Ascites
ORPHA:171	MST1	4485	HP:0002960	Autoimmunity
ORPHA:171	GPR35	2859	HP:0010638	Elevated alkaline phosphatase of hepatic origin
ORPHA:171	GPR35	2859	HP:0001433	Hepatosplenomegaly
ORPHA:171	GPR35	2859	HP:0001824	Weight loss
ORPHA:171	GPR35	2859	HP:0001409	Portal hypertension
ORPHA:171	GPR35	2859	HP:0002240	Hepatomegaly
ORPHA:171	GPR35	2859	HP:0002910	Elevated hepatic transaminases
ORPHA:171	GPR35	2859	HP:0100279	Ulcerative colitis
ORPHA:171	GPR35	2859	HP:0001395	Hepatic fibrosis
ORPHA:171	GPR35	2859	HP:0012700	Abnormal large intestine physiology
ORPHA:171	GPR35	2859	HP:0001744	Splenomegaly
ORPHA:171	GPR35	2859	HP:0001394	Cirrhosis
ORPHA:171	GPR35	2859	HP:0030168	Dilated superficial abdominal veins
ORPHA:171	GPR35	2859	HP:0001945	Fever
ORPHA:171	GPR35	2859	HP:0012522	Spider hemangioma
ORPHA:171	GPR35	2859	HP:0100869	Palmar telangiectasia
ORPHA:171	GPR35	2859	HP:0001541	Ascites
ORPHA:171	GPR35	2859	HP:0002960	Autoimmunity
ORPHA:171	TCF4	6925	HP:0010638	Elevated alkaline phosphatase of hepatic origin
ORPHA:171	TCF4	6925	HP:0001433	Hepatosplenomegaly
ORPHA:171	TCF4	6925	HP:0001824	Weight loss
ORPHA:171	TCF4	6925	HP:0001409	Portal hypertension
ORPHA:171	TCF4	6925	HP:0002240	Hepatomegaly
ORPHA:171	TCF4	6925	HP:0002910	Elevated hepatic transaminases
ORPHA:171	TCF4	6925	HP:0100279	Ulcerative colitis
ORPHA:171	TCF4	6925	HP:0001395	Hepatic fibrosis
ORPHA:171	TCF4	6925	HP:0012700	Abnormal large intestine physiology
ORPHA:171	TCF4	6925	HP:0001744	Splenomegaly
ORPHA:171	TCF4	6925	HP:0001394	Cirrhosis
ORPHA:171	TCF4	6925	HP:0030168	Dilated superficial abdominal veins
ORPHA:171	TCF4	6925	HP:0001945	Fever
ORPHA:171	TCF4	6925	HP:0012522	Spider hemangioma
ORPHA:171	TCF4	6925	HP:0100869	Palmar telangiectasia
ORPHA:171	TCF4	6925	HP:0001541	Ascites
ORPHA:171	TCF4	6925	HP:0002960	Autoimmunity
ORPHA:95496	HESX1	8820	HP:0011755	Ectopic posterior pituitary
ORPHA:95496	HESX1	8820	HP:0000821	Hypothyroidism
ORPHA:95496	HESX1	8820	HP:0000823	Delayed puberty
ORPHA:95496	HESX1	8820	HP:0001508	Failure to thrive
ORPHA:95496	HESX1	8820	HP:0004322	Short stature
ORPHA:95496	HESX1	8820	HP:0001943	Hypoglycemia
ORPHA:95496	HESX1	8820	HP:0008736	Hypoplasia of penis
ORPHA:95496	GPR161	23432	HP:0011755	Ectopic posterior pituitary
ORPHA:95496	GPR161	23432	HP:0000821	Hypothyroidism
ORPHA:95496	GPR161	23432	HP:0000823	Delayed puberty
ORPHA:95496	GPR161	23432	HP:0001508	Failure to thrive
ORPHA:95496	GPR161	23432	HP:0004322	Short stature
ORPHA:95496	GPR161	23432	HP:0001943	Hypoglycemia
ORPHA:95496	GPR161	23432	HP:0008736	Hypoplasia of penis
ORPHA:95496	CDON	50937	HP:0011755	Ectopic posterior pituitary
ORPHA:95496	CDON	50937	HP:0000821	Hypothyroidism
ORPHA:95496	CDON	50937	HP:0000823	Delayed puberty
ORPHA:95496	CDON	50937	HP:0001508	Failure to thrive
ORPHA:95496	CDON	50937	HP:0004322	Short stature
ORPHA:95496	CDON	50937	HP:0001943	Hypoglycemia
ORPHA:95496	CDON	50937	HP:0008736	Hypoplasia of penis
ORPHA:95496	LHX4	89884	HP:0011755	Ectopic posterior pituitary
ORPHA:95496	LHX4	89884	HP:0000821	Hypothyroidism
ORPHA:95496	LHX4	89884	HP:0000823	Delayed puberty
ORPHA:95496	LHX4	89884	HP:0001508	Failure to thrive
ORPHA:95496	LHX4	89884	HP:0004322	Short stature
ORPHA:95496	LHX4	89884	HP:0001943	Hypoglycemia
ORPHA:95496	LHX4	89884	HP:0008736	Hypoplasia of penis
OMIM:123150	FGFR1	2260	HP:0008080	Hallux varus
OMIM:123150	FGFR1	2260	HP:0008122	Calcaneonavicular fusion
OMIM:123150	FGFR1	2260	HP:0011800	Midface retrusion
OMIM:123150	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:123150	FGFR1	2260	HP:0000272	Malar flattening
OMIM:123150	FGFR1	2260	HP:0001783	Broad metatarsal
OMIM:123150	FGFR1	2260	HP:0010743	Short metatarsal
OMIM:123150	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:123150	FGFR1	2260	HP:0004691	2-3 toe syndactyly
OMIM:123150	FGFR1	2260	HP:0010055	Broad hallux
OMIM:123150	FGFR2	2263	HP:0008080	Hallux varus
OMIM:123150	FGFR2	2263	HP:0008122	Calcaneonavicular fusion
OMIM:123150	FGFR2	2263	HP:0011800	Midface retrusion
OMIM:123150	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:123150	FGFR2	2263	HP:0000272	Malar flattening
OMIM:123150	FGFR2	2263	HP:0001783	Broad metatarsal
OMIM:123150	FGFR2	2263	HP:0010743	Short metatarsal
OMIM:123150	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123150	FGFR2	2263	HP:0004691	2-3 toe syndactyly
OMIM:123150	FGFR2	2263	HP:0010055	Broad hallux
OMIM:137200	HINT1	3094	HP:0002486	Myotonia
OMIM:137200	HINT1	3094	HP:0000007	Autosomal recessive inheritance
OMIM:137200	HINT1	3094	HP:0003390	Sensory axonal neuropathy
OMIM:137200	HINT1	3094	HP:0003202	Skeletal muscle atrophy
OMIM:137200	HINT1	3094	HP:0003676	Progressive
OMIM:137200	HINT1	3094	HP:0000975	Hyperhidrosis
OMIM:137200	HINT1	3094	HP:0003552	Muscle stiffness
OMIM:137200	HINT1	3094	HP:0009027	Foot dorsiflexor weakness
OMIM:137200	HINT1	3094	HP:0003236	Elevated serum creatine phosphokinase
OMIM:137200	HINT1	3094	HP:0002380	Fasciculations
OMIM:137200	HINT1	3094	HP:0001760	Abnormality of the foot
OMIM:137200	HINT1	3094	HP:0002411	Myokymia
OMIM:137200	HINT1	3094	HP:0002936	Distal sensory impairment
OMIM:137200	HINT1	3094	HP:0003394	Muscle cramps
ORPHA:2717	FREM1	158326	HP:0000579	Nasolacrimal duct obstruction
ORPHA:2717	FREM1	158326	HP:0002025	Anal stenosis
ORPHA:2717	FREM1	158326	HP:0001545	Anteriorly placed anus
ORPHA:2717	FREM1	158326	HP:0000316	Hypertelorism
ORPHA:2717	FREM1	158326	HP:0000636	Upper eyelid coloboma
ORPHA:2717	FREM1	158326	HP:0010720	Abnormal hair pattern
OMIM:200950	ACP2	53	HP:0001290	Generalized hypotonia
OMIM:200950	ACP2	53	HP:0002013	Vomiting
OMIM:200950	ACP2	53	HP:0000007	Autosomal recessive inheritance
OMIM:200950	ACP2	53	HP:0002179	Opisthotonus
OMIM:200950	ACP2	53	HP:0001892	Abnormal bleeding
OMIM:265800	CTSK	1513	HP:0000189	Narrow palate
OMIM:265800	CTSK	1513	HP:0004322	Short stature
OMIM:265800	CTSK	1513	HP:0006335	Persistence of primary teeth
OMIM:265800	CTSK	1513	HP:0004474	Persistent open anterior fontanelle
OMIM:265800	CTSK	1513	HP:0002645	Wormian bones
OMIM:265800	CTSK	1513	HP:0003302	Spondylolisthesis
OMIM:265800	CTSK	1513	HP:0001156	Brachydactyly
OMIM:265800	CTSK	1513	HP:0000670	Carious teeth
OMIM:265800	CTSK	1513	HP:0011001	Increased bone mineral density
OMIM:265800	CTSK	1513	HP:0000680	Delayed eruption of primary teeth
OMIM:265800	CTSK	1513	HP:0009839	Osteolytic defects of the distal phalanges of the hand
OMIM:265800	CTSK	1513	HP:0002007	Frontal bossing
OMIM:265800	CTSK	1513	HP:0000347	Micrognathia
OMIM:265800	CTSK	1513	HP:0000696	Delayed eruption of permanent teeth
OMIM:265800	CTSK	1513	HP:0002688	Absent frontal sinuses
OMIM:265800	CTSK	1513	HP:0000269	Prominent occiput
OMIM:265800	CTSK	1513	HP:0000448	Prominent nose
OMIM:265800	CTSK	1513	HP:0000668	Hypodontia
OMIM:265800	CTSK	1513	HP:0002650	Scoliosis
OMIM:265800	CTSK	1513	HP:0000007	Autosomal recessive inheritance
OMIM:265800	CTSK	1513	HP:0000765	Abnormality of the thorax
OMIM:265800	CTSK	1513	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:265800	CTSK	1513	HP:0001807	Ridged nail
OMIM:265800	CTSK	1513	HP:0003304	Spondylolysis
OMIM:600376	ACVRL1	94	HP:0001901	Polycythemia
OMIM:600376	ACVRL1	94	HP:0006548	Pulmonary arteriovenous malformation
OMIM:600376	ACVRL1	94	HP:0002390	Spinal arteriovenous malformation
OMIM:600376	ACVRL1	94	HP:0000822	Hypertension
OMIM:600376	ACVRL1	94	HP:0002138	Subarachnoid hemorrhage
OMIM:600376	ACVRL1	94	HP:0002140	Ischemic stroke
OMIM:600376	ACVRL1	94	HP:0001394	Cirrhosis
OMIM:600376	ACVRL1	94	HP:0001425	Heterogeneous
OMIM:600376	ACVRL1	94	HP:0030049	Brain abscess
OMIM:600376	ACVRL1	94	HP:0000006	Autosomal dominant inheritance
OMIM:600376	ACVRL1	94	HP:0000227	Tongue telangiectasia
OMIM:600376	ACVRL1	94	HP:0000214	Lip telangiectasia
OMIM:600376	ACVRL1	94	HP:0001903	Anemia
OMIM:600376	ACVRL1	94	HP:0000471	Gastrointestinal angiodysplasia
OMIM:600376	ACVRL1	94	HP:0001232	Nail bed telangiectasia
OMIM:600376	ACVRL1	94	HP:0001694	Right-to-left shunt
OMIM:600376	ACVRL1	94	HP:0002573	Hematochezia
OMIM:600376	ACVRL1	94	HP:0002094	Dyspnea
OMIM:600376	ACVRL1	94	HP:0002249	Melena
OMIM:600376	ACVRL1	94	HP:0000961	Cyanosis
OMIM:600376	ACVRL1	94	HP:0004406	Spontaneous, recurrent epistaxis
OMIM:600376	ACVRL1	94	HP:0002604	Gastrointestinal telangiectasia
OMIM:600376	ACVRL1	94	HP:0002092	Pulmonary arterial hypertension
OMIM:600376	ACVRL1	94	HP:0006107	Fingerpad telangiectases
OMIM:600376	ACVRL1	94	HP:0002408	Cerebral arteriovenous malformation
OMIM:600376	ACVRL1	94	HP:0002248	Hematemesis
OMIM:600376	ACVRL1	94	HP:0002707	Palate telangiectasia
OMIM:600376	ACVRL1	94	HP:0006574	Hepatic arteriovenous malformation
OMIM:600376	ACVRL1	94	HP:0001342	Cerebral hemorrhage
OMIM:600376	ACVRL1	94	HP:0002326	Transient ischemic attack
OMIM:600376	ACVRL1	94	HP:0001217	Clubbing
OMIM:600376	ACVRL1	94	HP:0000524	Conjunctival telangiectasia
OMIM:600376	ACVRL1	94	HP:0030491	Choriocapillaris atrophy
OMIM:600376	ACVRL1	94	HP:0000434	Nasal mucosa telangiectasia
OMIM:600376	ACVRL1	94	HP:0002076	Migraine
OMIM:600376	ACVRL1	94	HP:0002629	Gastrointestinal arteriovenous malformation
OMIM:600376	ACVRL1	94	HP:0001250	Seizures
ORPHA:1275	PITX1	5307	HP:0009832	Abnormality of the distal phalanx of finger
ORPHA:1275	PITX1	5307	HP:0002997	Abnormality of the ulna
ORPHA:1275	PITX1	5307	HP:0000256	Macrocephaly
ORPHA:1275	PITX1	5307	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1275	PITX1	5307	HP:0001387	Joint stiffness
ORPHA:1275	PITX1	5307	HP:0003063	Abnormality of the humerus
ORPHA:1275	PITX1	5307	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1275	PITX1	5307	HP:0001231	Abnormality of the fingernails
ORPHA:1275	PITX1	5307	HP:0003042	Elbow dislocation
ORPHA:1275	PITX1	5307	HP:0005048	Synostosis of carpal bones
ORPHA:1275	PITX1	5307	HP:0001156	Brachydactyly
OMIM:601003	ATP2A1	487	HP:0000007	Autosomal recessive inheritance
OMIM:601003	ATP2A1	487	HP:0003394	Muscle cramps
ORPHA:1297	TFAP2A	7020	HP:0001611	Nasal speech
ORPHA:1297	TFAP2A	7020	HP:0002002	Deep philtrum
ORPHA:1297	TFAP2A	7020	HP:0000691	Microdontia
ORPHA:1297	TFAP2A	7020	HP:0001028	Hemangioma
ORPHA:1297	TFAP2A	7020	HP:0000431	Wide nasal bridge
ORPHA:1297	TFAP2A	7020	HP:0002216	Premature graying of hair
ORPHA:1297	TFAP2A	7020	HP:0000377	Abnormality of the pinna
ORPHA:1297	TFAP2A	7020	HP:0000612	Iris coloboma
ORPHA:1297	TFAP2A	7020	HP:0004464	Postauricular pit
ORPHA:1297	TFAP2A	7020	HP:0000232	Everted lower lip vermilion
ORPHA:1297	TFAP2A	7020	HP:0000218	High palate
ORPHA:1297	TFAP2A	7020	HP:0008606	Supraauricular pit
ORPHA:1297	TFAP2A	7020	HP:0100335	Non-midline cleft lip
ORPHA:1297	TFAP2A	7020	HP:0000455	Broad nasal tip
ORPHA:1297	TFAP2A	7020	HP:0004322	Short stature
ORPHA:1297	TFAP2A	7020	HP:0000405	Conductive hearing impairment
ORPHA:1297	TFAP2A	7020	HP:0001511	Intrauterine growth retardation
ORPHA:1297	TFAP2A	7020	HP:0000268	Dolichocephaly
ORPHA:1297	TFAP2A	7020	HP:0002167	Neurological speech impairment
ORPHA:1297	TFAP2A	7020	HP:0009804	Reduced number of teeth
ORPHA:1297	TFAP2A	7020	HP:0004467	Preauricular pit
ORPHA:1297	TFAP2A	7020	HP:0000579	Nasolacrimal duct obstruction
ORPHA:1297	TFAP2A	7020	HP:0000582	Upslanted palpebral fissure
ORPHA:1297	TFAP2A	7020	HP:0100798	Fingernail dysplasia
ORPHA:1297	TFAP2A	7020	HP:0000987	Atypical scarring of skin
ORPHA:1297	TFAP2A	7020	HP:0000368	Low-set, posteriorly rotated ears
OMIM:123320	CAV3	859	HP:0003710	Exercise-induced muscle cramps
OMIM:123320	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:123320	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:219700	CFTR	1080	HP:0006532	Recurrent pneumonia
OMIM:219700	CFTR	1080	HP:0003251	Male infertility
OMIM:219700	CFTR	1080	HP:0000007	Autosomal recessive inheritance
OMIM:219700	CFTR	1080	HP:0002110	Bronchiectasis
OMIM:219700	CFTR	1080	HP:0002150	Hypercalciuria
OMIM:219700	CFTR	1080	HP:0001648	Cor pulmonale
OMIM:219700	CFTR	1080	HP:0001738	Exocrine pancreatic insufficiency
OMIM:219700	CFTR	1080	HP:0002035	Rectal prolapse
OMIM:219700	CFTR	1080	HP:0002613	Biliary cirrhosis
OMIM:219700	CFTR	1080	HP:0004401	Meconium ileus
OMIM:219700	CFTR	1080	HP:0001508	Failure to thrive
OMIM:219700	CFTR	1080	HP:0006528	Chronic lung disease
OMIM:219700	CFTR	1080	HP:0002099	Asthma
OMIM:219700	CFTR	1080	HP:0012236	Elevated sweat chloride
OMIM:219700	CFTR	1080	HP:0006538	Recurrent bronchopulmonary infections
OMIM:607208	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:607208	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:607208	SCN1A	6323	HP:0100704	Cortical visual impairment
OMIM:607208	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:607208	SCN1A	6323	HP:0006813	Hemiclonic seizures
OMIM:607208	SCN1A	6323	HP:0002121	Absence seizures
OMIM:607208	SCN1A	6323	HP:0005484	Postnatal microcephaly
OMIM:607208	SCN1A	6323	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	SCN1A	6323	HP:0001268	Mental deterioration
OMIM:607208	SCN1A	6323	HP:0002059	Cerebral atrophy
OMIM:607208	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:607208	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:607208	SCN1A	6323	HP:0003593	Infantile onset
OMIM:607208	SCN1A	6323	HP:0001251	Ataxia
OMIM:607208	SCN1A	6323	HP:0001270	Motor delay
OMIM:605376	CFC1	55997	HP:0002566	Intestinal malrotation
OMIM:605376	CFC1	55997	HP:0001719	Double outlet right ventricle
OMIM:605376	CFC1	55997	HP:0011537	Left atrial isomerism
OMIM:605376	CFC1	55997	HP:0000006	Autosomal dominant inheritance
OMIM:605376	CFC1	55997	HP:0001748	Polysplenia
OMIM:605376	CFC1	55997	HP:0003363	Abdominal situs inversus
OMIM:605376	CFC1	55997	HP:0003829	Incomplete penetrance
OMIM:605376	CFC1	55997	HP:0011599	Mesocardia
OMIM:605376	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:605376	CFC1	55997	HP:0001696	Situs inversus totalis
OMIM:605376	CFC1	55997	HP:0006695	Atrioventricular canal defect
ORPHA:139406	PSAP	5660	HP:0001522	Death in infancy
ORPHA:139406	PSAP	5660	HP:0002240	Hepatomegaly
ORPHA:139406	PSAP	5660	HP:0000496	Abnormality of eye movement
ORPHA:139406	PSAP	5660	HP:0001744	Splenomegaly
ORPHA:139406	PSAP	5660	HP:0001336	Myoclonus
ORPHA:139406	PSAP	5660	HP:0002069	Generalized tonic-clonic seizures
ORPHA:139406	PSAP	5660	HP:0001252	Muscular hypotonia
ORPHA:139406	PSAP	5660	HP:0001332	Dystonia
ORPHA:139406	PSAP	5660	HP:0002093	Respiratory insufficiency
ORPHA:139406	PSAP	5660	HP:0002205	Recurrent respiratory infections
OMIM:300615	MAOA	4128	HP:0001419	X-linked recessive inheritance
OMIM:300615	MAOA	4128	HP:0000717	Autism
OMIM:300615	MAOA	4128	HP:0000744	Low frustration tolerance
OMIM:300615	MAOA	4128	HP:0000718	Aggressive behavior
OMIM:300615	MAOA	4128	HP:0001249	Intellectual disability
OMIM:300615	MAOA	4128	HP:0100716	Self-injurious behavior
OMIM:300989	BGN	633	HP:0001653	Mitral regurgitation
OMIM:300989	BGN	633	HP:0000494	Downslanted palpebral fissures
OMIM:300989	BGN	633	HP:0002007	Frontal bossing
OMIM:300989	BGN	633	HP:0000272	Malar flattening
OMIM:300989	BGN	633	HP:0000316	Hypertelorism
OMIM:300989	BGN	633	HP:0000193	Bifid uvula
OMIM:300989	BGN	633	HP:0001382	Joint hypermobility
OMIM:300989	BGN	633	HP:0001417	X-linked inheritance
OMIM:300989	BGN	633	HP:0000520	Proptosis
ORPHA:96191	HYMAI	57061	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:96191	HYMAI	57061	HP:0000347	Micrognathia
ORPHA:96191	HYMAI	57061	HP:0000586	Shallow orbits
ORPHA:96191	HYMAI	57061	HP:0002643	Neonatal respiratory distress
ORPHA:96191	HYMAI	57061	HP:0000218	High palate
ORPHA:96191	HYMAI	57061	HP:0001537	Umbilical hernia
ORPHA:96191	HYMAI	57061	HP:0000158	Macroglossia
ORPHA:96191	HYMAI	57061	HP:0001629	Ventricular septal defect
ORPHA:96191	HYMAI	57061	HP:0002240	Hepatomegaly
ORPHA:96191	HYMAI	57061	HP:0000065	Labial hypertrophy
ORPHA:96191	HYMAI	57061	HP:0001804	Hypoplastic fingernail
ORPHA:96191	HYMAI	57061	HP:0000826	Precocious puberty
ORPHA:96191	HYMAI	57061	HP:0008897	Postnatal growth retardation
ORPHA:96191	HYMAI	57061	HP:0000237	Small anterior fontanelle
ORPHA:96191	HYMAI	57061	HP:0000212	Gingival overgrowth
ORPHA:96191	HYMAI	57061	HP:0000448	Prominent nose
ORPHA:96191	HYMAI	57061	HP:0000363	Abnormality of earlobe
ORPHA:96191	HYMAI	57061	HP:0000028	Cryptorchidism
ORPHA:96191	HYMAI	57061	HP:0001511	Intrauterine growth retardation
ORPHA:96191	HYMAI	57061	HP:0000269	Prominent occiput
ORPHA:96191	HYMAI	57061	HP:0001640	Cardiomegaly
ORPHA:96191	HYMAI	57061	HP:0002123	Generalized myoclonic seizures
ORPHA:96191	HYMAI	57061	HP:0000278	Retrognathia
ORPHA:96191	HYMAI	57061	HP:0001562	Oligohydramnios
ORPHA:96191	HYMAI	57061	HP:0001944	Dehydration
ORPHA:96191	PLAGL1	5325	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:96191	PLAGL1	5325	HP:0000347	Micrognathia
ORPHA:96191	PLAGL1	5325	HP:0000586	Shallow orbits
ORPHA:96191	PLAGL1	5325	HP:0002643	Neonatal respiratory distress
ORPHA:96191	PLAGL1	5325	HP:0000218	High palate
ORPHA:96191	PLAGL1	5325	HP:0001537	Umbilical hernia
ORPHA:96191	PLAGL1	5325	HP:0000158	Macroglossia
ORPHA:96191	PLAGL1	5325	HP:0001629	Ventricular septal defect
ORPHA:96191	PLAGL1	5325	HP:0002240	Hepatomegaly
ORPHA:96191	PLAGL1	5325	HP:0000065	Labial hypertrophy
ORPHA:96191	PLAGL1	5325	HP:0001804	Hypoplastic fingernail
ORPHA:96191	PLAGL1	5325	HP:0000826	Precocious puberty
ORPHA:96191	PLAGL1	5325	HP:0008897	Postnatal growth retardation
ORPHA:96191	PLAGL1	5325	HP:0000237	Small anterior fontanelle
ORPHA:96191	PLAGL1	5325	HP:0000212	Gingival overgrowth
ORPHA:96191	PLAGL1	5325	HP:0000448	Prominent nose
ORPHA:96191	PLAGL1	5325	HP:0000363	Abnormality of earlobe
ORPHA:96191	PLAGL1	5325	HP:0000028	Cryptorchidism
ORPHA:96191	PLAGL1	5325	HP:0001511	Intrauterine growth retardation
ORPHA:96191	PLAGL1	5325	HP:0000269	Prominent occiput
ORPHA:96191	PLAGL1	5325	HP:0001640	Cardiomegaly
ORPHA:96191	PLAGL1	5325	HP:0002123	Generalized myoclonic seizures
ORPHA:96191	PLAGL1	5325	HP:0000278	Retrognathia
ORPHA:96191	PLAGL1	5325	HP:0001562	Oligohydramnios
ORPHA:96191	PLAGL1	5325	HP:0001944	Dehydration
ORPHA:2438	HOXA13	3209	HP:0010034	Short 1st metacarpal
ORPHA:2438	HOXA13	3209	HP:0007477	Abnormal dermatoglyphics
ORPHA:2438	HOXA13	3209	HP:0009882	Short distal phalanx of finger
ORPHA:2438	HOXA13	3209	HP:0005048	Synostosis of carpal bones
ORPHA:2438	HOXA13	3209	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2438	HOXA13	3209	HP:0006110	Shortening of all middle phalanges of the fingers
ORPHA:2438	HOXA13	3209	HP:0000813	Bicornuate uterus
ORPHA:2438	HOXA13	3209	HP:0000076	Vesicoureteral reflux
ORPHA:2438	HOXA13	3209	HP:0011937	Hypoplastic fifth toenail
ORPHA:2438	HOXA13	3209	HP:0010109	Short hallux
ORPHA:2438	HOXA13	3209	HP:0000047	Hypospadias
ORPHA:2438	HOXA13	3209	HP:0009623	Proximal placement of thumb
ORPHA:2438	HOXA13	3209	HP:0000010	Recurrent urinary tract infections
ORPHA:2438	HOXA13	3209	HP:0008080	Hallux varus
ORPHA:2438	HOXA13	3209	HP:0010105	Short first metatarsal
ORPHA:2438	HOXA13	3209	HP:0000074	Ureteropelvic junction obstruction
OMIM:615297	EOGT	285203	HP:0003812	Phenotypic variability
OMIM:615297	EOGT	285203	HP:0001800	Hypoplastic toenails
OMIM:615297	EOGT	285203	HP:0100797	Toenail dysplasia
OMIM:615297	EOGT	285203	HP:0000007	Autosomal recessive inheritance
OMIM:610127	CTSD	1509	HP:0001257	Spasticity
OMIM:610127	CTSD	1509	HP:0002878	Respiratory failure
OMIM:610127	CTSD	1509	HP:0000431	Wide nasal bridge
OMIM:610127	CTSD	1509	HP:0000510	Rod-cone dystrophy
OMIM:610127	CTSD	1509	HP:0001251	Ataxia
OMIM:610127	CTSD	1509	HP:0005458	Premature closure of fontanelles
OMIM:610127	CTSD	1509	HP:0010864	Intellectual disability, severe
OMIM:610127	CTSD	1509	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:610127	CTSD	1509	HP:0002059	Cerebral atrophy
OMIM:610127	CTSD	1509	HP:0002104	Apnea
OMIM:610127	CTSD	1509	HP:0002133	Status epilepticus
OMIM:610127	CTSD	1509	HP:0000252	Microcephaly
OMIM:610127	CTSD	1509	HP:0000572	Visual loss
OMIM:610127	CTSD	1509	HP:0001272	Cerebellar atrophy
OMIM:610127	CTSD	1509	HP:0002063	Rigidity
OMIM:610127	CTSD	1509	HP:0002529	Neuronal loss in central nervous system
OMIM:610127	CTSD	1509	HP:0006887	Intellectual disability, progressive
OMIM:610127	CTSD	1509	HP:0001105	Retinal atrophy
OMIM:610127	CTSD	1509	HP:0003577	Congenital onset
OMIM:610127	CTSD	1509	HP:0001268	Mental deterioration
OMIM:610127	CTSD	1509	HP:0000007	Autosomal recessive inheritance
OMIM:610127	CTSD	1509	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:610127	CTSD	1509	HP:0000340	Sloping forehead
OMIM:610127	CTSD	1509	HP:0000369	Low-set ears
OMIM:165500	OPA1	4976	HP:0000505	Visual impairment
OMIM:165500	OPA1	4976	HP:0000642	Red-green dyschromatopsia
OMIM:165500	OPA1	4976	HP:0000648	Optic atrophy
OMIM:165500	OPA1	4976	HP:0003587	Insidious onset
OMIM:165500	OPA1	4976	HP:0007663	Reduced visual acuity
OMIM:165500	OPA1	4976	HP:0003829	Incomplete penetrance
OMIM:165500	OPA1	4976	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials
OMIM:165500	OPA1	4976	HP:0000603	Central scotoma
OMIM:165500	OPA1	4976	HP:0000576	Centrocecal scotoma
OMIM:165500	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:165500	OPA1	4976	HP:0000552	Tritanomaly
OMIM:614296	WFS1	7466	HP:0000716	Depressivity
OMIM:614296	WFS1	7466	HP:0000365	Hearing impairment
OMIM:614296	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:614296	WFS1	7466	HP:0000648	Optic atrophy
OMIM:214700	SLC26A3	1811	HP:0000859	Hyperaldosteronism
OMIM:214700	SLC26A3	1811	HP:0001622	Premature birth
OMIM:214700	SLC26A3	1811	HP:0003270	Abdominal distention
OMIM:214700	SLC26A3	1811	HP:0000007	Autosomal recessive inheritance
OMIM:214700	SLC26A3	1811	HP:0001508	Failure to thrive
OMIM:214700	SLC26A3	1811	HP:0001944	Dehydration
OMIM:214700	SLC26A3	1811	HP:0001510	Growth delay
OMIM:214700	SLC26A3	1811	HP:0200114	Metabolic alkalosis
OMIM:214700	SLC26A3	1811	HP:0002900	Hypokalemia
OMIM:214700	SLC26A3	1811	HP:0001561	Polyhydramnios
OMIM:214700	SLC26A3	1811	HP:0002014	Diarrhea
OMIM:214700	SLC26A3	1811	HP:0001626	Abnormality of the cardiovascular system
OMIM:214700	SLC26A3	1811	HP:0000841	Hyperactive renin-angiotensin system
OMIM:214700	SLC26A3	1811	HP:0002902	Hyponatremia
OMIM:214700	SLC26A3	1811	HP:0003113	Hypochloremia
OMIM:600002	PTH1R	5745	HP:0004322	Short stature
OMIM:600002	PTH1R	5745	HP:0002663	Delayed epiphyseal ossification
OMIM:600002	PTH1R	5745	HP:0003275	Narrow pelvis bone
OMIM:600002	PTH1R	5745	HP:0000007	Autosomal recessive inheritance
OMIM:600002	PTH1R	5745	HP:0003038	Fibular hypoplasia
OMIM:600002	PTH1R	5745	HP:0002652	Skeletal dysplasia
OMIM:242100	ALOXE3	59344	HP:0003241	External genital hypoplasia
OMIM:242100	ALOXE3	59344	HP:0025092	Epidermal acanthosis
OMIM:242100	ALOXE3	59344	HP:0000966	Hypohidrosis
OMIM:242100	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:242100	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:242100	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	ALOXE3	59344	HP:0001510	Growth delay
OMIM:242100	ALOXE3	59344	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:242100	ALOXE3	59344	HP:0001249	Intellectual disability
OMIM:242100	ALOXE3	59344	HP:0025114	Hypergranulosis
OMIM:242100	ALOXE3	59344	HP:0003470	Paralysis
OMIM:242100	ALOX12B	242	HP:0003241	External genital hypoplasia
OMIM:242100	ALOX12B	242	HP:0025092	Epidermal acanthosis
OMIM:242100	ALOX12B	242	HP:0000966	Hypohidrosis
OMIM:242100	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:242100	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:242100	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	ALOX12B	242	HP:0001510	Growth delay
OMIM:242100	ALOX12B	242	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:242100	ALOX12B	242	HP:0001249	Intellectual disability
OMIM:242100	ALOX12B	242	HP:0025114	Hypergranulosis
OMIM:242100	ALOX12B	242	HP:0003470	Paralysis
OMIM:616811	TXN2	25828	HP:0001263	Global developmental delay
OMIM:616811	TXN2	25828	HP:0003577	Congenital onset
OMIM:616811	TXN2	25828	HP:0001272	Cerebellar atrophy
OMIM:616811	TXN2	25828	HP:0002188	Delayed CNS myelination
OMIM:616811	TXN2	25828	HP:0002151	Increased serum lactate
OMIM:616811	TXN2	25828	HP:0011923	Decreased activity of mitochondrial complex I
OMIM:616811	TXN2	25828	HP:0009830	Peripheral neuropathy
OMIM:616811	TXN2	25828	HP:0000648	Optic atrophy
OMIM:616811	TXN2	25828	HP:0001250	Seizures
OMIM:616811	TXN2	25828	HP:0002490	Increased CSF lactate
OMIM:616811	TXN2	25828	HP:0001332	Dystonia
OMIM:616811	TXN2	25828	HP:0002416	Subependymal cysts
OMIM:616811	TXN2	25828	HP:0001257	Spasticity
OMIM:616811	TXN2	25828	HP:0003593	Infantile onset
OMIM:616811	TXN2	25828	HP:0040078	Axonal degeneration
OMIM:616811	TXN2	25828	HP:0000252	Microcephaly
OMIM:616811	TXN2	25828	HP:0003676	Progressive
OMIM:616811	TXN2	25828	HP:0011968	Feeding difficulties
OMIM:616811	TXN2	25828	HP:0000007	Autosomal recessive inheritance
OMIM:616811	TXN2	25828	HP:0001138	Optic neuropathy
OMIM:616811	TXN2	25828	HP:0001290	Generalized hypotonia
OMIM:616811	TXN2	25828	HP:0002922	Increased CSF protein
OMIM:616811	TXN2	25828	HP:0000488	Retinopathy
OMIM:616811	TXN2	25828	HP:0002283	Global brain atrophy
OMIM:616811	TXN2	25828	HP:0011924	Decreased activity of mitochondrial complex III
OMIM:614779	CFAP53	220136	HP:0001651	Dextrocardia
OMIM:614779	CFAP53	220136	HP:0003363	Abdominal situs inversus
OMIM:614779	CFAP53	220136	HP:0003828	Variable expressivity
OMIM:614779	CFAP53	220136	HP:0000007	Autosomal recessive inheritance
OMIM:614779	CFAP53	220136	HP:0001669	Transposition of the great arteries
OMIM:616580	HNRNPK	3190	HP:0000268	Dolichocephaly
OMIM:616580	HNRNPK	3190	HP:0000508	Ptosis
OMIM:616580	HNRNPK	3190	HP:0000276	Long face
OMIM:616580	HNRNPK	3190	HP:0000474	Thickened nuchal skin fold
OMIM:616580	HNRNPK	3190	HP:0008551	Microtia
OMIM:616580	HNRNPK	3190	HP:0001249	Intellectual disability
OMIM:616580	HNRNPK	3190	HP:0012811	Wide nasal ridge
OMIM:616580	HNRNPK	3190	HP:0000960	Sacral dimple
OMIM:616580	HNRNPK	3190	HP:0005338	Sparse lateral eyebrow
OMIM:616580	HNRNPK	3190	HP:0002650	Scoliosis
OMIM:616580	HNRNPK	3190	HP:0011968	Feeding difficulties
OMIM:616580	HNRNPK	3190	HP:0000637	Long palpebral fissure
OMIM:616580	HNRNPK	3190	HP:0000028	Cryptorchidism
OMIM:616580	HNRNPK	3190	HP:0000494	Downslanted palpebral fissures
OMIM:616580	HNRNPK	3190	HP:0001845	Overlapping toe
OMIM:616580	HNRNPK	3190	HP:0000006	Autosomal dominant inheritance
OMIM:616580	HNRNPK	3190	HP:0001290	Generalized hypotonia
OMIM:616580	HNRNPK	3190	HP:0003186	Inverted nipples
OMIM:616580	HNRNPK	3190	HP:0000218	High palate
OMIM:616580	HNRNPK	3190	HP:0000430	Underdeveloped nasal alae
OMIM:616580	HNRNPK	3190	HP:0001263	Global developmental delay
OMIM:616580	HNRNPK	3190	HP:0000677	Oligodontia
OMIM:616580	HNRNPK	3190	HP:0002714	Downturned corners of mouth
OMIM:616580	HNRNPK	3190	HP:0002465	Poor speech
OMIM:616580	HNRNPK	3190	HP:0001363	Craniosynostosis
OMIM:616580	HNRNPK	3190	HP:0002019	Constipation
OMIM:616580	HNRNPK	3190	HP:0001385	Hip dysplasia
OMIM:616580	HNRNPK	3190	HP:0006610	Wide intermamillary distance
OMIM:616580	HNRNPK	3190	HP:0000194	Open mouth
OMIM:616580	HNRNPK	3190	HP:0100259	Postaxial polydactyly
OMIM:616580	HNRNPK	3190	HP:0000767	Pectus excavatum
OMIM:604232	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:236600	CCDC88C	440193	HP:0000007	Autosomal recessive inheritance
OMIM:236600	CCDC88C	440193	HP:0001250	Seizures
OMIM:236600	CCDC88C	440193	HP:0003577	Congenital onset
OMIM:236600	CCDC88C	440193	HP:0001249	Intellectual disability
OMIM:236600	CCDC88C	440193	HP:0000238	Hydrocephalus
OMIM:236600	CCDC88C	440193	HP:0002119	Ventriculomegaly
ORPHA:3332	SHH	6469	HP:0001177	Preaxial hand polydactyly
ORPHA:3332	SHH	6469	HP:0005736	Short tibia
ORPHA:3332	SHH	6469	HP:0012107	Increased fibular diameter
ORPHA:3332	SHH	6469	HP:0006101	Finger syndactyly
ORPHA:3332	SHH	6469	HP:0001162	Postaxial hand polydactyly
ORPHA:3332	SHH	6469	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3332	SHH	6469	HP:0010503	Fibular duplication
ORPHA:3332	SHH	6469	HP:0006487	Bowing of the long bones
ORPHA:3332	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
ORPHA:3332	LMBR1	64327	HP:0005736	Short tibia
ORPHA:3332	LMBR1	64327	HP:0012107	Increased fibular diameter
ORPHA:3332	LMBR1	64327	HP:0006101	Finger syndactyly
ORPHA:3332	LMBR1	64327	HP:0001162	Postaxial hand polydactyly
ORPHA:3332	LMBR1	64327	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3332	LMBR1	64327	HP:0010503	Fibular duplication
ORPHA:3332	LMBR1	64327	HP:0006487	Bowing of the long bones
OMIM:614052	TMEM70	54968	HP:0000308	Microretrognathia
OMIM:614052	TMEM70	54968	HP:0011675	Arrhythmia
OMIM:614052	TMEM70	54968	HP:0001562	Oligohydramnios
OMIM:614052	TMEM70	54968	HP:0000463	Anteverted nares
OMIM:614052	TMEM70	54968	HP:0001298	Encephalopathy
OMIM:614052	TMEM70	54968	HP:0000047	Hypospadias
OMIM:614052	TMEM70	54968	HP:0002093	Respiratory insufficiency
OMIM:614052	TMEM70	54968	HP:0002151	Increased serum lactate
OMIM:614052	TMEM70	54968	HP:0001290	Generalized hypotonia
OMIM:614052	TMEM70	54968	HP:0001511	Intrauterine growth retardation
OMIM:614052	TMEM70	54968	HP:0000007	Autosomal recessive inheritance
OMIM:614052	TMEM70	54968	HP:0003128	Lactic acidosis
OMIM:614052	TMEM70	54968	HP:0000369	Low-set ears
OMIM:614052	TMEM70	54968	HP:0000343	Long philtrum
OMIM:614052	TMEM70	54968	HP:0001251	Ataxia
OMIM:614052	TMEM70	54968	HP:0001537	Umbilical hernia
OMIM:614052	TMEM70	54968	HP:0001987	Hyperammonemia
OMIM:614052	TMEM70	54968	HP:0000023	Inguinal hernia
OMIM:614052	TMEM70	54968	HP:0012368	Flat face
OMIM:614052	TMEM70	54968	HP:0002352	Leukoencephalopathy
OMIM:614052	TMEM70	54968	HP:0001508	Failure to thrive
OMIM:614052	TMEM70	54968	HP:0000028	Cryptorchidism
OMIM:614052	TMEM70	54968	HP:0003577	Congenital onset
OMIM:614052	TMEM70	54968	HP:0001622	Premature birth
OMIM:614052	TMEM70	54968	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614052	TMEM70	54968	HP:0001518	Small for gestational age
OMIM:614052	TMEM70	54968	HP:0002578	Gastroparesis
OMIM:614052	TMEM70	54968	HP:0000431	Wide nasal bridge
OMIM:614052	TMEM70	54968	HP:0003348	Hyperalaninemia
OMIM:614052	TMEM70	54968	HP:0003535	3-Methylglutaconic aciduria
OMIM:614052	TMEM70	54968	HP:0001337	Tremor
OMIM:614052	TMEM70	54968	HP:0005469	Flat occiput
OMIM:614052	TMEM70	54968	HP:0001263	Global developmental delay
ORPHA:1168	APTX	54840	HP:0001288	Gait disturbance
ORPHA:1168	APTX	54840	HP:0009830	Peripheral neuropathy
ORPHA:1168	APTX	54840	HP:0010747	Medial flaring of the eyebrow
ORPHA:1168	APTX	54840	HP:0001251	Ataxia
OMIM:166780	EYA1	2138	HP:0000405	Conductive hearing impairment
OMIM:166780	EYA1	2138	HP:0001256	Intellectual disability, mild
OMIM:166780	EYA1	2138	HP:0000460	Narrow nose
OMIM:166780	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:166780	EYA1	2138	HP:0200021	Down-sloping shoulders
OMIM:166780	EYA1	2138	HP:0000276	Long face
OMIM:166780	EYA1	2138	HP:0004467	Preauricular pit
OMIM:166780	EYA1	2138	HP:0000472	Long neck
OMIM:166780	EYA1	2138	HP:0003691	Scapular winging
OMIM:167210	KRT17	3872	HP:0008404	Nail dystrophy
OMIM:167210	KRT17	3872	HP:0007410	Palmoplantar hyperhidrosis
OMIM:167210	KRT17	3872	HP:0000972	Palmoplantar hyperkeratosis
OMIM:167210	KRT17	3872	HP:0011359	Dry hair
OMIM:167210	KRT17	3872	HP:0200040	Epidermoid cyst
OMIM:167210	KRT17	3872	HP:0001609	Hoarse voice
OMIM:167210	KRT17	3872	HP:0008392	Subungual hyperkeratosis
OMIM:167210	KRT17	3872	HP:0002164	Nail dysplasia
OMIM:167210	KRT17	3872	HP:0002209	Sparse scalp hair
OMIM:167210	KRT17	3872	HP:0025084	Folliculitis
OMIM:167210	KRT17	3872	HP:0000695	Natal tooth
OMIM:167210	KRT17	3872	HP:0001425	Heterogeneous
OMIM:167210	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:167210	KRT17	3872	HP:0012035	Steatocystoma multiplex
OMIM:167210	KRT17	3872	HP:0000535	Sparse and thin eyebrow
OMIM:253800	FKTN	2218	HP:0001631	Atrial septal defect
OMIM:253800	FKTN	2218	HP:0001324	Muscle weakness
OMIM:253800	FKTN	2218	HP:0001371	Flexion contracture
OMIM:253800	FKTN	2218	HP:0002650	Scoliosis
OMIM:253800	FKTN	2218	HP:0003306	Spinal rigidity
OMIM:253800	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:253800	FKTN	2218	HP:0002084	Encephalocele
OMIM:253800	FKTN	2218	HP:0003202	Skeletal muscle atrophy
OMIM:253800	FKTN	2218	HP:0001249	Intellectual disability
OMIM:253800	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:253800	FKTN	2218	HP:0000486	Strabismus
OMIM:253800	FKTN	2218	HP:0000648	Optic atrophy
OMIM:253800	FKTN	2218	HP:0002093	Respiratory insufficiency
OMIM:253800	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:253800	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:253800	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:253800	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:253800	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	FKTN	2218	HP:0000545	Myopia
OMIM:253800	FKTN	2218	HP:0001250	Seizures
OMIM:253800	FKTN	2218	HP:0001302	Pachygyria
OMIM:253800	FKTN	2218	HP:0001642	Pulmonic stenosis
OMIM:253800	FKTN	2218	HP:0003593	Infantile onset
OMIM:253800	FKTN	2218	HP:0000568	Microphthalmia
OMIM:253800	FKTN	2218	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:253800	FKTN	2218	HP:0001669	Transposition of the great arteries
OMIM:253800	FKTN	2218	HP:0001290	Generalized hypotonia
OMIM:253800	FKTN	2218	HP:0000540	Hypermetropia
OMIM:253800	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:253800	FKTN	2218	HP:0008981	Calf muscle hypertrophy
OMIM:253800	FKTN	2218	HP:0000518	Cataract
OMIM:253800	FKTN	2218	HP:0001685	Myocardial fibrosis
OMIM:253800	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	FKTN	2218	HP:0000541	Retinal detachment
OMIM:253800	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:253800	FKTN	2218	HP:0001284	Areflexia
ORPHA:231720	LHX3	8022	HP:0000824	Growth hormone deficiency
ORPHA:231720	LHX3	8022	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency
ORPHA:231720	LHX3	8022	HP:0000470	Short neck
ORPHA:231720	LHX3	8022	HP:0004322	Short stature
ORPHA:231720	LHX3	8022	HP:0003423	Thoracolumbar kyphoscoliosis
ORPHA:231720	LHX3	8022	HP:0000407	Sensorineural hearing impairment
ORPHA:231720	LHX3	8022	HP:0008213	Gonadotropin deficiency
ORPHA:231720	LHX3	8022	HP:0008245	Pituitary hypothyroidism
ORPHA:231720	LHX3	8022	HP:0010627	Anterior pituitary hypoplasia
OMIM:613887	TDRD7	23424	HP:0000007	Autosomal recessive inheritance
OMIM:613887	TDRD7	23424	HP:0000518	Cataract
OMIM:217090	PLG	5340	HP:0001305	Dandy-Walker malformation
OMIM:217090	PLG	5340	HP:0003593	Infantile onset
OMIM:217090	PLG	5340	HP:0000256	Macrocephaly
OMIM:217090	PLG	5340	HP:0000230	Gingivitis
OMIM:217090	PLG	5340	HP:0000704	Periodontitis
OMIM:217090	PLG	5340	HP:0002788	Recurrent upper respiratory tract infections
OMIM:217090	PLG	5340	HP:0001600	Abnormality of the larynx
OMIM:217090	PLG	5340	HP:0000951	Abnormality of the skin
OMIM:217090	PLG	5340	HP:0002588	Duodenal ulcer
OMIM:217090	PLG	5340	HP:0000509	Conjunctivitis
OMIM:217090	PLG	5340	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217090	PLG	5340	HP:0000598	Abnormality of the ear
OMIM:217090	PLG	5340	HP:0000007	Autosomal recessive inheritance
OMIM:217090	PLG	5340	HP:0000212	Gingival overgrowth
OMIM:217090	PLG	5340	HP:0000787	Nephrolithiasis
OMIM:217090	PLG	5340	HP:0000618	Blindness
OMIM:217090	PLG	5340	HP:0001321	Cerebellar hypoplasia
OMIM:217090	PLG	5340	HP:0000238	Hydrocephalus
OMIM:608578	ACTB	60	HP:0001249	Intellectual disability
OMIM:233650	RAG1	5896	HP:0005403	Decrease in T cell count
OMIM:233650	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:233650	RAG1	5896	HP:0002205	Recurrent respiratory infections
OMIM:233650	RAG1	5896	HP:0003593	Infantile onset
OMIM:233650	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:233650	RAG1	5896	HP:0004315	IgG deficiency
OMIM:233650	RAG1	5896	HP:0005387	Combined immunodeficiency
OMIM:233650	RAG2	5897	HP:0005403	Decrease in T cell count
OMIM:233650	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:233650	RAG2	5897	HP:0002205	Recurrent respiratory infections
OMIM:233650	RAG2	5897	HP:0003593	Infantile onset
OMIM:233650	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:233650	RAG2	5897	HP:0004315	IgG deficiency
OMIM:233650	RAG2	5897	HP:0005387	Combined immunodeficiency
OMIM:271640	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:271640	B3GALT6	126792	HP:0000887	Cupped ribs
OMIM:271640	B3GALT6	126792	HP:0008012	Congenital myopia
OMIM:271640	B3GALT6	126792	HP:0001763	Pes planus
OMIM:271640	B3GALT6	126792	HP:0100864	Short femoral neck
OMIM:271640	B3GALT6	126792	HP:0001822	Hallux valgus
OMIM:271640	B3GALT6	126792	HP:0000939	Osteoporosis
OMIM:271640	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:271640	B3GALT6	126792	HP:0001799	Short nail
OMIM:271640	B3GALT6	126792	HP:0000904	Flaring of rib cage
OMIM:271640	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:271640	B3GALT6	126792	HP:0000878	11 pairs of ribs
OMIM:271640	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:271640	B3GALT6	126792	HP:0009836	Broad distal phalanx of finger
OMIM:271640	B3GALT6	126792	HP:0003300	Ovoid vertebral bodies
OMIM:271640	B3GALT6	126792	HP:0001290	Generalized hypotonia
OMIM:271640	B3GALT6	126792	HP:0010550	Paraplegia
OMIM:271640	B3GALT6	126792	HP:0003100	Slender long bone
OMIM:271640	B3GALT6	126792	HP:0003510	Severe short stature
OMIM:271640	B3GALT6	126792	HP:0001388	Joint laxity
OMIM:271640	B3GALT6	126792	HP:0001371	Flexion contracture
OMIM:271640	B3GALT6	126792	HP:0001083	Ectopia lentis
OMIM:271640	B3GALT6	126792	HP:0001840	Metatarsus adductus
OMIM:271640	B3GALT6	126792	HP:0000520	Proptosis
OMIM:271640	B3GALT6	126792	HP:0008828	Delayed proximal femoral epiphyseal ossification
OMIM:271640	B3GALT6	126792	HP:0000347	Micrognathia
OMIM:271640	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:271640	B3GALT6	126792	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:271640	B3GALT6	126792	HP:0030043	Hip subluxation
OMIM:271640	B3GALT6	126792	HP:0002209	Sparse scalp hair
OMIM:271640	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:271640	B3GALT6	126792	HP:0012368	Flat face
OMIM:271640	B3GALT6	126792	HP:0002869	Flared iliac wings
OMIM:271640	B3GALT6	126792	HP:0003048	Radial head subluxation
OMIM:271640	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:271640	B3GALT6	126792	HP:0001027	Soft, doughy skin
OMIM:271640	B3GALT6	126792	HP:0003301	Irregular vertebral endplates
OMIM:271640	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:271640	B3GALT6	126792	HP:0008818	Large iliac wings
OMIM:271640	B3GALT6	126792	HP:0010049	Short metacarpal
OMIM:271640	B3GALT6	126792	HP:0008824	Hypoplastic iliac body
OMIM:271640	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:271640	B3GALT6	126792	HP:0001631	Atrial septal defect
OMIM:271640	B3GALT6	126792	HP:0002756	Pathologic fracture
OMIM:271640	B3GALT6	126792	HP:0001653	Mitral regurgitation
OMIM:271640	B3GALT6	126792	HP:0011800	Midface retrusion
OMIM:271640	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:271640	B3GALT6	126792	HP:0001647	Bicuspid aortic valve
OMIM:271640	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:271640	B3GALT6	126792	HP:0003026	Short long bone
OMIM:271640	B3GALT6	126792	HP:0000470	Short neck
OMIM:271640	B3GALT6	126792	HP:0002176	Spinal cord compression
OMIM:271640	B3GALT6	126792	HP:0002673	Coxa valga
OMIM:271640	B3GALT6	126792	HP:0000343	Long philtrum
OMIM:271640	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:271640	B3GALT6	126792	HP:0003083	Dislocated radial head
OMIM:271640	B3GALT6	126792	HP:0001030	Fragile skin
OMIM:271640	B3GALT6	126792	HP:0000272	Malar flattening
OMIM:271640	B3GALT6	126792	HP:0002986	Radial bowing
OMIM:271640	B3GALT6	126792	HP:0000300	Oval face
OMIM:271640	B3GALT6	126792	HP:0001629	Ventricular septal defect
OMIM:137800	ERBB2	2064	HP:0002888	Ependymoma
OMIM:137800	ERBB2	2064	HP:0001428	Somatic mutation
OMIM:137800	ERBB2	2064	HP:0012174	Glioblastoma multiforme
OMIM:137800	ERBB2	2064	HP:0000006	Autosomal dominant inheritance
OMIM:137800	ERBB2	2064	HP:0100843	Glioblastoma
OMIM:617028	TNIK	23043	HP:0000752	Hyperactivity
OMIM:617028	TNIK	23043	HP:0000007	Autosomal recessive inheritance
OMIM:617028	TNIK	23043	HP:0000750	Delayed speech and language development
OMIM:617028	TNIK	23043	HP:0001249	Intellectual disability
OMIM:610706	FGF3	2248	HP:0000007	Autosomal recessive inheritance
OMIM:610706	FGF3	2248	HP:0002194	Delayed gross motor development
OMIM:610706	FGF3	2248	HP:0011266	Microtia, first degree
OMIM:610706	FGF3	2248	HP:0040080	Anteverted ears
OMIM:610706	FGF3	2248	HP:0000347	Micrognathia
OMIM:610706	FGF3	2248	HP:0011372	Aplasia of the inner ear
OMIM:610706	FGF3	2248	HP:0000276	Long face
OMIM:610706	FGF3	2248	HP:0000691	Microdontia
OMIM:610706	FGF3	2248	HP:0000698	Conical tooth
OMIM:610706	FGF3	2248	HP:0000687	Widely spaced teeth
OMIM:610706	FGF3	2248	HP:0010609	Skin tags
OMIM:610706	FGF3	2248	HP:0011476	Profound sensorineural hearing impairment
OMIM:615244	ARHGDIA	396	HP:0001967	Diffuse mesangial sclerosis
OMIM:615244	ARHGDIA	396	HP:0000007	Autosomal recessive inheritance
OMIM:615244	ARHGDIA	396	HP:0012577	Thin glomerular basement membrane
OMIM:615244	ARHGDIA	396	HP:0100704	Cortical visual impairment
OMIM:615244	ARHGDIA	396	HP:0000100	Nephrotic syndrome
OMIM:615244	ARHGDIA	396	HP:0000093	Proteinuria
OMIM:615244	ARHGDIA	396	HP:0001249	Intellectual disability
OMIM:615244	ARHGDIA	396	HP:0003678	Rapidly progressive
OMIM:615244	ARHGDIA	396	HP:0000407	Sensorineural hearing impairment
OMIM:615244	ARHGDIA	396	HP:0000969	Edema
OMIM:615244	ARHGDIA	396	HP:0003073	Hypoalbuminemia
OMIM:615244	ARHGDIA	396	HP:0003623	Neonatal onset
OMIM:615244	ARHGDIA	396	HP:0012622	Chronic kidney disease
ORPHA:226307	HESX1	8820	HP:0000202	Oral cleft
ORPHA:226307	HESX1	8820	HP:0001252	Muscular hypotonia
ORPHA:226307	HESX1	8820	HP:0000239	Large fontanelles
ORPHA:226307	HESX1	8820	HP:0003270	Abdominal distention
ORPHA:226307	HESX1	8820	HP:0100842	Septo-optic dysplasia
ORPHA:226307	HESX1	8820	HP:0001537	Umbilical hernia
ORPHA:226307	HESX1	8820	HP:0012378	Fatigue
ORPHA:226307	HESX1	8820	HP:0002360	Sleep disturbance
ORPHA:226307	HESX1	8820	HP:0001249	Intellectual disability
ORPHA:226307	HESX1	8820	HP:0002019	Constipation
ORPHA:226307	HESX1	8820	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:226307	HESX1	8820	HP:0011968	Feeding difficulties
ORPHA:226307	HESX1	8820	HP:0000280	Coarse facial features
ORPHA:226307	HESX1	8820	HP:0011787	Central hypothyroidism
ORPHA:226307	HESX1	8820	HP:0000952	Jaundice
ORPHA:226307	HESX1	8820	HP:0001263	Global developmental delay
ORPHA:226307	HESX1	8820	HP:0004322	Short stature
ORPHA:226307	LHX3	8022	HP:0000202	Oral cleft
ORPHA:226307	LHX3	8022	HP:0001252	Muscular hypotonia
ORPHA:226307	LHX3	8022	HP:0000239	Large fontanelles
ORPHA:226307	LHX3	8022	HP:0003270	Abdominal distention
ORPHA:226307	LHX3	8022	HP:0100842	Septo-optic dysplasia
ORPHA:226307	LHX3	8022	HP:0001537	Umbilical hernia
ORPHA:226307	LHX3	8022	HP:0012378	Fatigue
ORPHA:226307	LHX3	8022	HP:0002360	Sleep disturbance
ORPHA:226307	LHX3	8022	HP:0001249	Intellectual disability
ORPHA:226307	LHX3	8022	HP:0002019	Constipation
ORPHA:226307	LHX3	8022	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:226307	LHX3	8022	HP:0011968	Feeding difficulties
ORPHA:226307	LHX3	8022	HP:0000280	Coarse facial features
ORPHA:226307	LHX3	8022	HP:0011787	Central hypothyroidism
ORPHA:226307	LHX3	8022	HP:0000952	Jaundice
ORPHA:226307	LHX3	8022	HP:0001263	Global developmental delay
ORPHA:226307	LHX3	8022	HP:0004322	Short stature
ORPHA:226307	POU1F1	5449	HP:0000202	Oral cleft
ORPHA:226307	POU1F1	5449	HP:0001252	Muscular hypotonia
ORPHA:226307	POU1F1	5449	HP:0000239	Large fontanelles
ORPHA:226307	POU1F1	5449	HP:0003270	Abdominal distention
ORPHA:226307	POU1F1	5449	HP:0100842	Septo-optic dysplasia
ORPHA:226307	POU1F1	5449	HP:0001537	Umbilical hernia
ORPHA:226307	POU1F1	5449	HP:0012378	Fatigue
ORPHA:226307	POU1F1	5449	HP:0002360	Sleep disturbance
ORPHA:226307	POU1F1	5449	HP:0001249	Intellectual disability
ORPHA:226307	POU1F1	5449	HP:0002019	Constipation
ORPHA:226307	POU1F1	5449	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:226307	POU1F1	5449	HP:0011968	Feeding difficulties
ORPHA:226307	POU1F1	5449	HP:0000280	Coarse facial features
ORPHA:226307	POU1F1	5449	HP:0011787	Central hypothyroidism
ORPHA:226307	POU1F1	5449	HP:0000952	Jaundice
ORPHA:226307	POU1F1	5449	HP:0001263	Global developmental delay
ORPHA:226307	POU1F1	5449	HP:0004322	Short stature
ORPHA:226307	PROP1	5626	HP:0000202	Oral cleft
ORPHA:226307	PROP1	5626	HP:0001252	Muscular hypotonia
ORPHA:226307	PROP1	5626	HP:0000239	Large fontanelles
ORPHA:226307	PROP1	5626	HP:0003270	Abdominal distention
ORPHA:226307	PROP1	5626	HP:0100842	Septo-optic dysplasia
ORPHA:226307	PROP1	5626	HP:0001537	Umbilical hernia
ORPHA:226307	PROP1	5626	HP:0012378	Fatigue
ORPHA:226307	PROP1	5626	HP:0002360	Sleep disturbance
ORPHA:226307	PROP1	5626	HP:0001249	Intellectual disability
ORPHA:226307	PROP1	5626	HP:0002019	Constipation
ORPHA:226307	PROP1	5626	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:226307	PROP1	5626	HP:0011968	Feeding difficulties
ORPHA:226307	PROP1	5626	HP:0000280	Coarse facial features
ORPHA:226307	PROP1	5626	HP:0011787	Central hypothyroidism
ORPHA:226307	PROP1	5626	HP:0000952	Jaundice
ORPHA:226307	PROP1	5626	HP:0001263	Global developmental delay
ORPHA:226307	PROP1	5626	HP:0004322	Short stature
ORPHA:226307	LHX4	89884	HP:0000202	Oral cleft
ORPHA:226307	LHX4	89884	HP:0001252	Muscular hypotonia
ORPHA:226307	LHX4	89884	HP:0000239	Large fontanelles
ORPHA:226307	LHX4	89884	HP:0003270	Abdominal distention
ORPHA:226307	LHX4	89884	HP:0100842	Septo-optic dysplasia
ORPHA:226307	LHX4	89884	HP:0001537	Umbilical hernia
ORPHA:226307	LHX4	89884	HP:0012378	Fatigue
ORPHA:226307	LHX4	89884	HP:0002360	Sleep disturbance
ORPHA:226307	LHX4	89884	HP:0001249	Intellectual disability
ORPHA:226307	LHX4	89884	HP:0002019	Constipation
ORPHA:226307	LHX4	89884	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:226307	LHX4	89884	HP:0011968	Feeding difficulties
ORPHA:226307	LHX4	89884	HP:0000280	Coarse facial features
ORPHA:226307	LHX4	89884	HP:0011787	Central hypothyroidism
ORPHA:226307	LHX4	89884	HP:0000952	Jaundice
ORPHA:226307	LHX4	89884	HP:0001263	Global developmental delay
ORPHA:226307	LHX4	89884	HP:0004322	Short stature
ORPHA:93256	FMR1	2332	HP:0100515	Pollakisuria
ORPHA:93256	FMR1	2332	HP:0001324	Muscle weakness
ORPHA:93256	FMR1	2332	HP:0002080	Intention tremor
ORPHA:93256	FMR1	2332	HP:0100275	Diffuse cerebellar atrophy
ORPHA:93256	FMR1	2332	HP:0001260	Dysarthria
ORPHA:93256	FMR1	2332	HP:0002839	Urinary bladder sphincter dysfunction
ORPHA:93256	FMR1	2332	HP:0012534	Dysesthesia
ORPHA:93256	FMR1	2332	HP:0030216	Inertia
ORPHA:93256	FMR1	2332	HP:0000722	Obsessive-compulsive behavior
ORPHA:93256	FMR1	2332	HP:0000716	Depressivity
ORPHA:93256	FMR1	2332	HP:0000726	Dementia
ORPHA:93256	FMR1	2332	HP:0000739	Anxiety
ORPHA:93256	FMR1	2332	HP:0002459	Dysautonomia
ORPHA:93256	FMR1	2332	HP:0001310	Dysmetria
ORPHA:93256	FMR1	2332	HP:0000802	Impotence
ORPHA:93256	FMR1	2332	HP:0001265	Hyporeflexia
ORPHA:93256	FMR1	2332	HP:0002120	Cerebral cortical atrophy
ORPHA:93256	FMR1	2332	HP:0002063	Rigidity
ORPHA:93256	FMR1	2332	HP:0002354	Memory impairment
ORPHA:93256	FMR1	2332	HP:0002066	Gait ataxia
OMIM:610475	PDE11A	50940	HP:0001579	Primary hypercorticolism
OMIM:610475	PDE11A	50940	HP:0001580	Pigmented micronodular adrenocortical disease
OMIM:610475	PDE11A	50940	HP:0001065	Striae distensae
OMIM:610475	PDE11A	50940	HP:0000713	Agitation
OMIM:610475	PDE11A	50940	HP:0000716	Depressivity
OMIM:610475	PDE11A	50940	HP:0001956	Truncal obesity
OMIM:610475	PDE11A	50940	HP:0003674	Onset
OMIM:610475	PDE11A	50940	HP:0000822	Hypertension
OMIM:610475	PDE11A	50940	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
OMIM:610475	PDE11A	50940	HP:0000006	Autosomal dominant inheritance
OMIM:610475	PDE11A	50940	HP:0000939	Osteoporosis
OMIM:610475	PDE11A	50940	HP:0001575	Mood changes
OMIM:610475	PDE11A	50940	HP:0000963	Thin skin
OMIM:610475	PDE11A	50940	HP:0000978	Bruising susceptibility
OMIM:610475	PDE11A	50940	HP:0000739	Anxiety
OMIM:610475	PDE11A	50940	HP:0000311	Round face
OMIM:610475	PDE11A	50940	HP:0001268	Mental deterioration
OMIM:610475	PDE11A	50940	HP:0000709	Psychosis
OMIM:610475	PDE11A	50940	HP:0002808	Kyphosis
OMIM:610475	PDE11A	50940	HP:0002920	Decreased circulating ACTH level
OMIM:610475	PDE11A	50940	HP:0000938	Osteopenia
OMIM:614617	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614617	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
ORPHA:79323	MPDU1	9526	HP:0001252	Muscular hypotonia
ORPHA:79323	MPDU1	9526	HP:0001250	Seizures
ORPHA:79323	MPDU1	9526	HP:0000504	Abnormality of vision
ORPHA:79323	MPDU1	9526	HP:0100543	Cognitive impairment
ORPHA:79333	COG7	91949	HP:0001252	Muscular hypotonia
ORPHA:79333	COG7	91949	HP:0010978	Abnormality of immune system physiology
ORPHA:79333	COG7	91949	HP:0001639	Hypertrophic cardiomyopathy
OMIM:208000	ENPP1	5167	HP:0001717	Coronary artery calcification
OMIM:208000	ENPP1	5167	HP:0001635	Congestive heart failure
OMIM:208000	ENPP1	5167	HP:0001658	Myocardial infarction
OMIM:208000	ENPP1	5167	HP:0000822	Hypertension
OMIM:208000	ENPP1	5167	HP:0004940	Generalized arterial calcification
OMIM:208000	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
ORPHA:258	LAMA2	3908	HP:0002375	Hypokinesia
ORPHA:258	LAMA2	3908	HP:0002783	Recurrent lower respiratory tract infections
ORPHA:258	LAMA2	3908	HP:0002835	Aspiration
ORPHA:258	LAMA2	3908	HP:0001612	Weak cry
ORPHA:258	LAMA2	3908	HP:0030234	Highly elevated creatine phosphokinase
ORPHA:258	LAMA2	3908	HP:0100295	Muscle fiber atrophy
ORPHA:258	LAMA2	3908	HP:0100614	Myositis
ORPHA:258	LAMA2	3908	HP:0012747	Abnormal brainstem MRI signal intensity
ORPHA:258	LAMA2	3908	HP:0001249	Intellectual disability
ORPHA:258	LAMA2	3908	HP:0001270	Motor delay
ORPHA:258	LAMA2	3908	HP:0009025	Increased connective tissue
ORPHA:258	LAMA2	3908	HP:0002020	Gastroesophageal reflux
ORPHA:258	LAMA2	3908	HP:0001371	Flexion contracture
ORPHA:258	LAMA2	3908	HP:0010628	Facial palsy
ORPHA:258	LAMA2	3908	HP:0002540	Inability to walk
ORPHA:258	LAMA2	3908	HP:0010754	Abnormality of the temporomandibular joint
ORPHA:258	LAMA2	3908	HP:0005216	Chewing difficulties
ORPHA:258	LAMA2	3908	HP:0002181	Cerebral edema
ORPHA:258	LAMA2	3908	HP:0002878	Respiratory failure
ORPHA:258	LAMA2	3908	HP:0000158	Macroglossia
ORPHA:258	LAMA2	3908	HP:0002446	Astrocytosis
ORPHA:258	LAMA2	3908	HP:0003741	Congenital muscular dystrophy
OMIM:108770	GJA5	2702	HP:0200127	Atrial cardiomyopathy
OMIM:108770	GJA5	2702	HP:0001706	Endocardial fibroelastosis
OMIM:108770	GJA5	2702	HP:0011705	First degree atrioventricular block
OMIM:108770	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:108770	GJA5	2702	HP:0006699	Premature atrial contractions
OMIM:108770	GJA5	2702	HP:0025478	Atrial standstill
OMIM:608804	GJC2	57165	HP:0003593	Infantile onset
OMIM:608804	GJC2	57165	HP:0000007	Autosomal recessive inheritance
OMIM:608804	GJC2	57165	HP:0002191	Progressive spasticity
OMIM:608804	GJC2	57165	HP:0007220	Demyelinating motor neuropathy
OMIM:608804	GJC2	57165	HP:0001251	Ataxia
OMIM:608804	GJC2	57165	HP:0002063	Rigidity
OMIM:608804	GJC2	57165	HP:0002313	Spastic paraparesis
OMIM:608804	GJC2	57165	HP:0002415	Leukodystrophy
OMIM:608804	GJC2	57165	HP:0100543	Cognitive impairment
OMIM:608804	GJC2	57165	HP:0001583	Rotary nystagmus
OMIM:608804	GJC2	57165	HP:0003390	Sensory axonal neuropathy
OMIM:608804	GJC2	57165	HP:0002080	Intention tremor
OMIM:608804	GJC2	57165	HP:0000648	Optic atrophy
OMIM:608804	GJC2	57165	HP:0003487	Babinski sign
OMIM:608804	GJC2	57165	HP:0001332	Dystonia
OMIM:608804	GJC2	57165	HP:0002465	Poor speech
OMIM:608804	GJC2	57165	HP:0006808	Cerebral hypomyelination
OMIM:608804	GJC2	57165	HP:0003431	Decreased motor nerve conduction velocity
OMIM:608804	GJC2	57165	HP:0010628	Facial palsy
OMIM:608804	GJC2	57165	HP:0001266	Choreoathetosis
OMIM:608804	GJC2	57165	HP:0000545	Myopia
OMIM:608804	GJC2	57165	HP:0001263	Global developmental delay
OMIM:608804	GJC2	57165	HP:0001260	Dysarthria
OMIM:608804	GJC2	57165	HP:0001270	Motor delay
OMIM:608804	GJC2	57165	HP:0002599	Head titubation
OMIM:608804	GJC2	57165	HP:0008936	Muscular hypotonia of the trunk
OMIM:608804	GJC2	57165	HP:0002059	Cerebral atrophy
OMIM:608804	GJC2	57165	HP:0001250	Seizures
OMIM:607678	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:607678	EGR2	1959	HP:0001425	Heterogeneous
OMIM:607678	EGR2	1959	HP:0003376	Steppage gait
OMIM:607678	EGR2	1959	HP:0003621	Juvenile onset
OMIM:607678	EGR2	1959	HP:0003484	Upper limb muscle weakness
OMIM:607678	EGR2	1959	HP:0003828	Variable expressivity
OMIM:607678	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:607678	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607678	EGR2	1959	HP:0009027	Foot dorsiflexor weakness
OMIM:607678	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:606072	CAV3	859	HP:0003457	EMG abnormality
OMIM:606072	CAV3	859	HP:0003559	Muscle hyperirritability
OMIM:606072	CAV3	859	HP:0003581	Adult onset
OMIM:606072	CAV3	859	HP:0003712	Skeletal muscle hypertrophy
OMIM:606072	CAV3	859	HP:0003719	Muscle mounding
OMIM:606072	CAV3	859	HP:0003738	Exercise-induced myalgia
OMIM:606072	CAV3	859	HP:0008967	Exercise-induced muscle stiffness
OMIM:606072	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606072	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:606072	CAV3	859	HP:0003710	Exercise-induced muscle cramps
OMIM:606072	CAV3	859	HP:0003760	Percussion-induced rapid rolling muscle contractions
OMIM:606072	CAV3	859	HP:0001425	Heterogeneous
ORPHA:53697	ANO5	203859	HP:0007626	Mandibular osteomyelitis
ORPHA:53697	ANO5	203859	HP:0000938	Osteopenia
ORPHA:53697	ANO5	203859	HP:0000935	Thickened cortex of long bones
ORPHA:53697	ANO5	203859	HP:0012802	Broad jaw
ORPHA:53697	ANO5	203859	HP:0006487	Bowing of the long bones
OMIM:120330	PAX2	5076	HP:0000076	Vesicoureteral reflux
OMIM:120330	PAX2	5076	HP:0001250	Seizures
OMIM:120330	PAX2	5076	HP:0000407	Sensorineural hearing impairment
OMIM:120330	PAX2	5076	HP:0001249	Intellectual disability
OMIM:120330	PAX2	5076	HP:0001144	Orbital cyst
OMIM:120330	PAX2	5076	HP:0025514	Morning glory anomaly
OMIM:120330	PAX2	5076	HP:0000089	Renal hypoplasia
OMIM:120330	PAX2	5076	HP:0002171	Gliosis
OMIM:120330	PAX2	5076	HP:0000006	Autosomal dominant inheritance
OMIM:120330	PAX2	5076	HP:0000480	Retinal coloboma
OMIM:120330	PAX2	5076	HP:0000533	Chorioretinal atrophy
OMIM:120330	PAX2	5076	HP:0000003	Multicystic kidney dysplasia
OMIM:120330	PAX2	5076	HP:0003593	Infantile onset
OMIM:120330	PAX2	5076	HP:0003812	Phenotypic variability
OMIM:120330	PAX2	5076	HP:0003774	Stage 5 chronic kidney disease
OMIM:120330	PAX2	5076	HP:0000093	Proteinuria
OMIM:120330	PAX2	5076	HP:0007099	Arnold-Chiari type I malformation
OMIM:120330	PAX2	5076	HP:0001388	Joint laxity
OMIM:120330	PAX2	5076	HP:0000974	Hyperextensible skin
OMIM:120330	PAX2	5076	HP:0000568	Microphthalmia
OMIM:120330	PAX2	5076	HP:0000977	Soft skin
OMIM:120330	PAX2	5076	HP:0000588	Optic nerve coloboma
OMIM:616893	NUP205	23165	HP:0012588	Steroid-resistant nephrotic syndrome
OMIM:616893	NUP205	23165	HP:0000097	Focal segmental glomerulosclerosis
OMIM:616893	NUP205	23165	HP:0003774	Stage 5 chronic kidney disease
OMIM:616893	NUP205	23165	HP:0000007	Autosomal recessive inheritance
OMIM:612520	HNF1A	6927	HP:0100651	Type I diabetes mellitus
ORPHA:584	GUSB	2990	HP:0000023	Inguinal hernia
ORPHA:584	GUSB	2990	HP:0012368	Flat face
ORPHA:584	GUSB	2990	HP:0008430	Anterior beaking of lumbar vertebrae
ORPHA:584	GUSB	2990	HP:0001387	Joint stiffness
ORPHA:584	GUSB	2990	HP:0001789	Hydrops fetalis
ORPHA:584	GUSB	2990	HP:0007957	Corneal opacity
ORPHA:584	GUSB	2990	HP:0001004	Lymphedema
ORPHA:584	GUSB	2990	HP:0000280	Coarse facial features
ORPHA:584	GUSB	2990	HP:0003272	Abnormality of the hip bone
ORPHA:584	GUSB	2990	HP:0002103	Abnormality of the pleura
ORPHA:584	GUSB	2990	HP:0010655	Epiphyseal stippling
ORPHA:584	GUSB	2990	HP:0001840	Metatarsus adductus
ORPHA:584	GUSB	2990	HP:0001541	Ascites
ORPHA:584	GUSB	2990	HP:0001744	Splenomegaly
ORPHA:584	GUSB	2990	HP:0005019	Diaphyseal thickening
ORPHA:584	GUSB	2990	HP:0001252	Muscular hypotonia
ORPHA:584	GUSB	2990	HP:0002650	Scoliosis
ORPHA:584	GUSB	2990	HP:0001249	Intellectual disability
ORPHA:584	GUSB	2990	HP:0001537	Umbilical hernia
ORPHA:584	GUSB	2990	HP:0012115	Hepatitis
ORPHA:584	GUSB	2990	HP:0002205	Recurrent respiratory infections
ORPHA:584	GUSB	2990	HP:0008155	Mucopolysacchariduria
ORPHA:584	GUSB	2990	HP:0004607	Anterior beaking of lower thoracic vertebrae
OMIM:600955	PCSK1	5122	HP:0000786	Primary amenorrhea
OMIM:600955	PCSK1	5122	HP:0002024	Malabsorption
OMIM:600955	PCSK1	5122	HP:0003812	Phenotypic variability
OMIM:600955	PCSK1	5122	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:600955	PCSK1	5122	HP:0002014	Diarrhea
OMIM:600955	PCSK1	5122	HP:0012051	Reactive hypoglycemia
OMIM:600955	PCSK1	5122	HP:0001513	Obesity
OMIM:600955	PCSK1	5122	HP:0003745	Sporadic
OMIM:600955	PCSK1	5122	HP:0011473	Villous atrophy
OMIM:600955	PCSK1	5122	HP:0008163	Decreased circulating cortisol level
OMIM:604218	SERPINI1	5274	HP:0002936	Distal sensory impairment
OMIM:604218	SERPINI1	5274	HP:0000639	Nystagmus
OMIM:604218	SERPINI1	5274	HP:0002059	Cerebral atrophy
OMIM:604218	SERPINI1	5274	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:604218	SERPINI1	5274	HP:0002171	Gliosis
OMIM:604218	SERPINI1	5274	HP:0000006	Autosomal dominant inheritance
OMIM:604218	SERPINI1	5274	HP:0000651	Diplopia
OMIM:604218	SERPINI1	5274	HP:0001298	Encephalopathy
OMIM:604218	SERPINI1	5274	HP:0001336	Myoclonus
OMIM:604218	SERPINI1	5274	HP:0001250	Seizures
OMIM:604218	SERPINI1	5274	HP:0000726	Dementia
OMIM:604218	SERPINI1	5274	HP:0002529	Neuronal loss in central nervous system
OMIM:604218	SERPINI1	5274	HP:0001260	Dysarthria
OMIM:613874	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:613874	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613874	PLN	5350	HP:0001638	Cardiomyopathy
OMIM:613874	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:612286	SLC34A1	6569	HP:0002659	Increased susceptibility to fractures
OMIM:612286	SLC34A1	6569	HP:0000938	Osteopenia
OMIM:612286	SLC34A1	6569	HP:0000006	Autosomal dominant inheritance
OMIM:612286	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:612286	SLC34A1	6569	HP:0002150	Hypercalciuria
OMIM:612286	SLC34A1	6569	HP:0000117	Renal phosphate wasting
OMIM:612286	SLC34A1	6569	HP:0000939	Osteoporosis
OMIM:612286	SLC34A1	6569	HP:0000787	Nephrolithiasis
OMIM:612286	SLC34A1	6569	HP:0003109	Hyperphosphaturia
OMIM:300854	TFE3	7030	HP:0001428	Somatic mutation
OMIM:300854	TFE3	7030	HP:0005584	Renal cell carcinoma
ORPHA:94065	SIN3A	25942	HP:0000135	Hypogonadism
ORPHA:94065	SIN3A	25942	HP:0000343	Long philtrum
ORPHA:94065	SIN3A	25942	HP:0009928	Thick nasal alae
ORPHA:94065	SIN3A	25942	HP:0011100	Intestinal atresia
ORPHA:94065	SIN3A	25942	HP:0001263	Global developmental delay
ORPHA:94065	SIN3A	25942	HP:0000535	Sparse and thin eyebrow
ORPHA:94065	SIN3A	25942	HP:0001511	Intrauterine growth retardation
ORPHA:94065	SIN3A	25942	HP:0005692	Joint hyperflexibility
ORPHA:94065	SIN3A	25942	HP:0007598	Bilateral single transverse palmar creases
ORPHA:94065	SIN3A	25942	HP:0000252	Microcephaly
ORPHA:94065	SIN3A	25942	HP:0000047	Hypospadias
ORPHA:94065	SIN3A	25942	HP:0000275	Narrow face
ORPHA:94065	SIN3A	25942	HP:0000316	Hypertelorism
ORPHA:94065	SIN3A	25942	HP:0009623	Proximal placement of thumb
ORPHA:94065	SIN3A	25942	HP:0000494	Downslanted palpebral fissures
ORPHA:94065	SIN3A	25942	HP:0000179	Thick lower lip vermilion
ORPHA:94065	SIN3A	25942	HP:0000276	Long face
ORPHA:94065	SIN3A	25942	HP:0000378	Cupped ear
ORPHA:94065	SIN3A	25942	HP:0002553	Highly arched eyebrow
ORPHA:94065	SIN3A	25942	HP:0002721	Immunodeficiency
ORPHA:94065	SIN3A	25942	HP:0002650	Scoliosis
ORPHA:94065	SIN3A	25942	HP:0000160	Narrow mouth
ORPHA:94065	SIN3A	25942	HP:0000319	Smooth philtrum
ORPHA:94065	SIN3A	25942	HP:0000426	Prominent nasal bridge
ORPHA:94065	SIN3A	25942	HP:0000431	Wide nasal bridge
ORPHA:94065	SIN3A	25942	HP:0000400	Macrotia
ORPHA:94065	SIN3A	25942	HP:0004322	Short stature
ORPHA:94065	SIN3A	25942	HP:0009890	High anterior hairline
ORPHA:94065	SIN3A	25942	HP:0000486	Strabismus
ORPHA:94065	SIN3A	25942	HP:0000365	Hearing impairment
ORPHA:94065	SIN3A	25942	HP:0001249	Intellectual disability
OMIM:616280	MARS	4141	HP:0009027	Foot dorsiflexor weakness
OMIM:616280	MARS	4141	HP:0003477	Peripheral axonal neuropathy
OMIM:616280	MARS	4141	HP:0002936	Distal sensory impairment
OMIM:616280	MARS	4141	HP:0000006	Autosomal dominant inheritance
OMIM:616280	MARS	4141	HP:0001284	Areflexia
OMIM:616280	MARS	4141	HP:0003677	Slow progression
OMIM:616280	MARS	4141	HP:0003376	Steppage gait
OMIM:613112	TUBB1	81027	HP:0000006	Autosomal dominant inheritance
OMIM:613112	TUBB1	81027	HP:0040185	Macrothrombocytopenia
OMIM:248900	SPG21	51324	HP:0003487	Babinski sign
OMIM:248900	SPG21	51324	HP:0001347	Hyperreflexia
OMIM:248900	SPG21	51324	HP:0003677	Slow progression
OMIM:248900	SPG21	51324	HP:0001258	Spastic paraplegia
OMIM:248900	SPG21	51324	HP:0007340	Lower limb muscle weakness
OMIM:248900	SPG21	51324	HP:0000726	Dementia
OMIM:248900	SPG21	51324	HP:0003828	Variable expressivity
OMIM:248900	SPG21	51324	HP:0000007	Autosomal recessive inheritance
OMIM:248900	SPG21	51324	HP:0003674	Onset
OMIM:248900	SPG21	51324	HP:0001288	Gait disturbance
OMIM:248900	SPG21	51324	HP:0002313	Spastic paraparesis
OMIM:615905	SLC13A5	284111	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SLC13A5	284111	HP:0001251	Ataxia
OMIM:615905	SLC13A5	284111	HP:0000668	Hypodontia
OMIM:615905	SLC13A5	284111	HP:0000252	Microcephaly
OMIM:615905	SLC13A5	284111	HP:0002133	Status epilepticus
OMIM:615905	SLC13A5	284111	HP:0031165	Multifocal seizures
OMIM:615905	SLC13A5	284111	HP:0001257	Spasticity
OMIM:615905	SLC13A5	284111	HP:0001290	Generalized hypotonia
OMIM:615905	SLC13A5	284111	HP:0000007	Autosomal recessive inheritance
OMIM:615905	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:615905	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:617063	CDC45	8318	HP:0002025	Anal stenosis
OMIM:617063	CDC45	8318	HP:0002979	Bowing of the legs
OMIM:617063	CDC45	8318	HP:0001388	Joint laxity
OMIM:617063	CDC45	8318	HP:0007099	Arnold-Chiari type I malformation
OMIM:617063	CDC45	8318	HP:0012227	Urethral stricture
OMIM:617063	CDC45	8318	HP:0000007	Autosomal recessive inheritance
OMIM:617063	CDC45	8318	HP:0001629	Ventricular septal defect
OMIM:617063	CDC45	8318	HP:0100867	Duodenal stenosis
OMIM:617063	CDC45	8318	HP:0000218	High palate
OMIM:617063	CDC45	8318	HP:0045074	Thin eyebrow
OMIM:617063	CDC45	8318	HP:0004691	2-3 toe syndactyly
OMIM:617063	CDC45	8318	HP:0000047	Hypospadias
OMIM:617063	CDC45	8318	HP:0002089	Pulmonary hypoplasia
OMIM:617063	CDC45	8318	HP:0001631	Atrial septal defect
OMIM:617063	CDC45	8318	HP:0004322	Short stature
OMIM:617063	CDC45	8318	HP:0004442	Sagittal craniosynostosis
OMIM:617063	CDC45	8318	HP:0001674	Complete atrioventricular canal defect
OMIM:617063	CDC45	8318	HP:0000260	Wide anterior fontanel
OMIM:617063	CDC45	8318	HP:0002023	Anal atresia
OMIM:617063	CDC45	8318	HP:0000545	Myopia
OMIM:617063	CDC45	8318	HP:0000054	Micropenis
OMIM:617063	CDC45	8318	HP:0000365	Hearing impairment
OMIM:617063	CDC45	8318	HP:0004325	Decreased body weight
OMIM:617063	CDC45	8318	HP:0000160	Narrow mouth
OMIM:617063	CDC45	8318	HP:0001217	Clubbing
OMIM:617063	CDC45	8318	HP:0100258	Preaxial polydactyly
OMIM:617063	CDC45	8318	HP:0008665	Clitoral hypertrophy
OMIM:617063	CDC45	8318	HP:0000028	Cryptorchidism
OMIM:617063	CDC45	8318	HP:0008551	Microtia
OMIM:617063	CDC45	8318	HP:0000175	Cleft palate
OMIM:617063	CDC45	8318	HP:0000520	Proptosis
OMIM:617063	CDC45	8318	HP:0000253	Progressive microcephaly
OMIM:617063	CDC45	8318	HP:0000486	Strabismus
OMIM:617063	CDC45	8318	HP:0002650	Scoliosis
OMIM:617063	CDC45	8318	HP:0000453	Choanal atresia
OMIM:617063	CDC45	8318	HP:0000076	Vesicoureteral reflux
OMIM:617063	CDC45	8318	HP:0001263	Global developmental delay
OMIM:617063	CDC45	8318	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:606438	JPH3	57338	HP:0000738	Hallucinations
OMIM:606438	JPH3	57338	HP:0000741	Apathy
OMIM:606438	JPH3	57338	HP:0001260	Dysarthria
OMIM:606438	JPH3	57338	HP:0002063	Rigidity
OMIM:606438	JPH3	57338	HP:0000726	Dementia
OMIM:606438	JPH3	57338	HP:0000716	Depressivity
OMIM:606438	JPH3	57338	HP:0002345	Action tremor
OMIM:606438	JPH3	57338	HP:0000737	Irritability
OMIM:606438	JPH3	57338	HP:0001332	Dystonia
OMIM:606438	JPH3	57338	HP:0002067	Bradykinesia
OMIM:606438	JPH3	57338	HP:0000746	Delusions
OMIM:606438	JPH3	57338	HP:0002072	Chorea
OMIM:606438	JPH3	57338	HP:0001824	Weight loss
OMIM:606438	JPH3	57338	HP:0000739	Anxiety
OMIM:606438	JPH3	57338	HP:0000006	Autosomal dominant inheritance
OMIM:606438	JPH3	57338	HP:0001347	Hyperreflexia
ORPHA:35098	FGFR3	2261	HP:0000486	Strabismus
ORPHA:35098	FGFR3	2261	HP:0001123	Visual field defect
ORPHA:35098	FGFR3	2261	HP:0000324	Facial asymmetry
ORPHA:35098	FGFR3	2261	HP:0002007	Frontal bossing
ORPHA:35098	FGFR3	2261	HP:0001357	Plagiocephaly
ORPHA:35098	ZIC1	7545	HP:0000486	Strabismus
ORPHA:35098	ZIC1	7545	HP:0001123	Visual field defect
ORPHA:35098	ZIC1	7545	HP:0000324	Facial asymmetry
ORPHA:35098	ZIC1	7545	HP:0002007	Frontal bossing
ORPHA:35098	ZIC1	7545	HP:0001357	Plagiocephaly
ORPHA:35098	TCF12	6938	HP:0000486	Strabismus
ORPHA:35098	TCF12	6938	HP:0001123	Visual field defect
ORPHA:35098	TCF12	6938	HP:0000324	Facial asymmetry
ORPHA:35098	TCF12	6938	HP:0002007	Frontal bossing
ORPHA:35098	TCF12	6938	HP:0001357	Plagiocephaly
ORPHA:35098	TWIST1	7291	HP:0000486	Strabismus
ORPHA:35098	TWIST1	7291	HP:0001123	Visual field defect
ORPHA:35098	TWIST1	7291	HP:0000324	Facial asymmetry
ORPHA:35098	TWIST1	7291	HP:0002007	Frontal bossing
ORPHA:35098	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:179850	KRT5	3852	HP:0007456	Progressive reticulate hyperpigmentation
OMIM:179850	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:605820	GNE	10020	HP:0003236	Elevated serum creatine phosphokinase
OMIM:605820	GNE	10020	HP:0003791	Deposits immunoreactive to beta-amyloid protein
OMIM:605820	GNE	10020	HP:0001288	Gait disturbance
OMIM:605820	GNE	10020	HP:0002460	Distal muscle weakness
OMIM:605820	GNE	10020	HP:0003581	Adult onset
OMIM:605820	GNE	10020	HP:0003693	Distal amyotrophy
OMIM:605820	GNE	10020	HP:0000007	Autosomal recessive inheritance
OMIM:605820	GNE	10020	HP:0003458	EMG: myopathic abnormalities
OMIM:605820	GNE	10020	HP:0003805	Rimmed vacuoles
OMIM:616402	SASS6	163786	HP:0001249	Intellectual disability
OMIM:616402	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:616402	SASS6	163786	HP:0002465	Poor speech
OMIM:616402	SASS6	163786	HP:0000718	Aggressive behavior
OMIM:616402	SASS6	163786	HP:0000252	Microcephaly
OMIM:616402	SASS6	163786	HP:0001263	Global developmental delay
OMIM:270400	DHCR7	1717	HP:0000107	Renal cyst
OMIM:270400	DHCR7	1717	HP:0007165	Periventricular gray matter heterotopia
OMIM:270400	DHCR7	1717	HP:0001622	Premature birth
OMIM:270400	DHCR7	1717	HP:0002019	Constipation
OMIM:270400	DHCR7	1717	HP:0002101	Abnormal lung lobation
OMIM:270400	DHCR7	1717	HP:0001831	Short toe
OMIM:270400	DHCR7	1717	HP:0000074	Ureteropelvic junction obstruction
OMIM:270400	DHCR7	1717	HP:0002079	Hypoplasia of the corpus callosum
OMIM:270400	DHCR7	1717	HP:0002013	Vomiting
OMIM:270400	DHCR7	1717	HP:0004322	Short stature
OMIM:270400	DHCR7	1717	HP:0001629	Ventricular septal defect
OMIM:270400	DHCR7	1717	HP:0002251	Aganglionic megacolon
OMIM:270400	DHCR7	1717	HP:0000486	Strabismus
OMIM:270400	DHCR7	1717	HP:0002566	Intestinal malrotation
OMIM:270400	DHCR7	1717	HP:0000286	Epicanthus
OMIM:270400	DHCR7	1717	HP:0002983	Micromelia
OMIM:270400	DHCR7	1717	HP:0002579	Gastrointestinal dysmotility
OMIM:270400	DHCR7	1717	HP:0000187	Broad alveolar ridges
OMIM:270400	DHCR7	1717	HP:0000007	Autosomal recessive inheritance
OMIM:270400	DHCR7	1717	HP:0000028	Cryptorchidism
OMIM:270400	DHCR7	1717	HP:0005280	Depressed nasal bridge
OMIM:270400	DHCR7	1717	HP:0030043	Hip subluxation
OMIM:270400	DHCR7	1717	HP:0002089	Pulmonary hypoplasia
OMIM:270400	DHCR7	1717	HP:0000639	Nystagmus
OMIM:270400	DHCR7	1717	HP:0000365	Hearing impairment
OMIM:270400	DHCR7	1717	HP:0001276	Hypertonia
OMIM:270400	DHCR7	1717	HP:0006979	Sleep-wake cycle disturbance
OMIM:270400	DHCR7	1717	HP:0000403	Recurrent otitis media
OMIM:270400	DHCR7	1717	HP:0000752	Hyperactivity
OMIM:270400	DHCR7	1717	HP:0001250	Seizures
OMIM:270400	DHCR7	1717	HP:0000089	Renal hypoplasia
OMIM:270400	DHCR7	1717	HP:0007537	Severe photosensitivity
OMIM:270400	DHCR7	1717	HP:0000062	Ambiguous genitalia
OMIM:270400	DHCR7	1717	HP:0000347	Micrognathia
OMIM:270400	DHCR7	1717	HP:0001290	Generalized hypotonia
OMIM:270400	DHCR7	1717	HP:0001623	Breech presentation
OMIM:270400	DHCR7	1717	HP:0000813	Bicornuate uterus
OMIM:270400	DHCR7	1717	HP:0000826	Precocious puberty
OMIM:270400	DHCR7	1717	HP:0000964	Eczema
OMIM:270400	DHCR7	1717	HP:0000518	Cataract
OMIM:270400	DHCR7	1717	HP:0000369	Low-set ears
OMIM:270400	DHCR7	1717	HP:0002827	Hip dislocation
OMIM:270400	DHCR7	1717	HP:0010569	Elevated 7-dehydrocholesterol
OMIM:270400	DHCR7	1717	HP:0002021	Pyloric stenosis
OMIM:270400	DHCR7	1717	HP:0001680	Coarctation of aorta
OMIM:270400	DHCR7	1717	HP:0000104	Renal agenesis
OMIM:270400	DHCR7	1717	HP:0009623	Proximal placement of thumb
OMIM:270400	DHCR7	1717	HP:0000046	Scrotal hypoplasia
OMIM:270400	DHCR7	1717	HP:0000054	Micropenis
OMIM:270400	DHCR7	1717	HP:0001643	Patent ductus arteriosus
OMIM:270400	DHCR7	1717	HP:0009778	Short thumb
OMIM:270400	DHCR7	1717	HP:0002611	Cholestatic liver disease
OMIM:270400	DHCR7	1717	HP:0001845	Overlapping toe
OMIM:270400	DHCR7	1717	HP:0000463	Anteverted nares
OMIM:270400	DHCR7	1717	HP:0000048	Bifid scrotum
OMIM:270400	DHCR7	1717	HP:0001558	Decreased fetal movement
OMIM:270400	DHCR7	1717	HP:0000431	Wide nasal bridge
OMIM:270400	DHCR7	1717	HP:0000126	Hydronephrosis
OMIM:270400	DHCR7	1717	HP:0001162	Postaxial hand polydactyly
OMIM:270400	DHCR7	1717	HP:0001830	Postaxial foot polydactyly
OMIM:270400	DHCR7	1717	HP:0000171	Microglossia
OMIM:270400	DHCR7	1717	HP:0001765	Hammertoe
OMIM:270400	DHCR7	1717	HP:0000996	Facial capillary hemangioma
OMIM:270400	DHCR7	1717	HP:0001508	Failure to thrive
OMIM:270400	DHCR7	1717	HP:0000717	Autism
OMIM:270400	DHCR7	1717	HP:0010655	Epiphyseal stippling
OMIM:270400	DHCR7	1717	HP:0001360	Holoprosencephaly
OMIM:270400	DHCR7	1717	HP:0001153	Septate vagina
OMIM:270400	DHCR7	1717	HP:0003146	Hypocholesterolemia
OMIM:270400	DHCR7	1717	HP:0001631	Atrial septal defect
OMIM:270400	DHCR7	1717	HP:0000742	Self-mutilation
OMIM:270400	DHCR7	1717	HP:0000508	Ptosis
OMIM:270400	DHCR7	1717	HP:0001840	Metatarsus adductus
OMIM:270400	DHCR7	1717	HP:0000252	Microcephaly
OMIM:270400	DHCR7	1717	HP:0000047	Hypospadias
OMIM:270400	DHCR7	1717	HP:0000238	Hydrocephalus
OMIM:270400	DHCR7	1717	HP:0000718	Aggressive behavior
OMIM:270400	DHCR7	1717	HP:0004691	2-3 toe syndactyly
OMIM:270400	DHCR7	1717	HP:0001884	Talipes calcaneovalgus
OMIM:270400	DHCR7	1717	HP:0000175	Cleft palate
OMIM:270400	DHCR7	1717	HP:0000678	Dental crowding
OMIM:270400	DHCR7	1717	HP:0000341	Narrow forehead
OMIM:270400	DHCR7	1717	HP:0002033	Poor suck
OMIM:270400	DHCR7	1717	HP:0007333	Hypoplasia of the frontal lobes
OMIM:270400	DHCR7	1717	HP:0002020	Gastroesophageal reflux
OMIM:270400	DHCR7	1717	HP:0001305	Dandy-Walker malformation
OMIM:270400	DHCR7	1717	HP:0001511	Intrauterine growth retardation
OMIM:270400	DHCR7	1717	HP:0001249	Intellectual disability
OMIM:270400	DHCR7	1717	HP:0000316	Hypertelorism
OMIM:270400	DHCR7	1717	HP:0000358	Posteriorly rotated ears
OMIM:270400	DHCR7	1717	HP:0000343	Long philtrum
ORPHA:955	NOTCH2	4853	HP:0000365	Hearing impairment
ORPHA:955	NOTCH2	4853	HP:0002653	Bone pain
ORPHA:955	NOTCH2	4853	HP:0008424	Hypoplastic 5th lumbar vertebrae
ORPHA:955	NOTCH2	4853	HP:0004586	Biconcave vertebral bodies
ORPHA:955	NOTCH2	4853	HP:0000347	Micrognathia
ORPHA:955	NOTCH2	4853	HP:0000704	Periodontitis
ORPHA:955	NOTCH2	4853	HP:0002652	Skeletal dysplasia
ORPHA:955	NOTCH2	4853	HP:0011305	Partial absence of toe
ORPHA:955	NOTCH2	4853	HP:0002829	Arthralgia
ORPHA:955	NOTCH2	4853	HP:0000506	Telecanthus
ORPHA:955	NOTCH2	4853	HP:0000939	Osteoporosis
ORPHA:955	NOTCH2	4853	HP:0002757	Recurrent fractures
ORPHA:955	NOTCH2	4853	HP:0000280	Coarse facial features
ORPHA:955	NOTCH2	4853	HP:0000470	Short neck
ORPHA:955	NOTCH2	4853	HP:0001231	Abnormality of the fingernails
ORPHA:955	NOTCH2	4853	HP:0002308	Arnold-Chiari malformation
ORPHA:955	NOTCH2	4853	HP:0002691	Platybasia
ORPHA:955	NOTCH2	4853	HP:0000233	Thin vermilion border
ORPHA:955	NOTCH2	4853	HP:0002714	Downturned corners of mouth
ORPHA:955	NOTCH2	4853	HP:0000445	Wide nose
ORPHA:955	NOTCH2	4853	HP:0000463	Anteverted nares
ORPHA:955	NOTCH2	4853	HP:0002688	Absent frontal sinuses
ORPHA:955	NOTCH2	4853	HP:0000269	Prominent occiput
ORPHA:955	NOTCH2	4853	HP:0005692	Joint hyperflexibility
ORPHA:955	NOTCH2	4853	HP:0009882	Short distal phalanx of finger
ORPHA:955	NOTCH2	4853	HP:0001156	Brachydactyly
ORPHA:955	NOTCH2	4853	HP:0000938	Osteopenia
ORPHA:955	NOTCH2	4853	HP:0000494	Downslanted palpebral fissures
ORPHA:955	NOTCH2	4853	HP:0002650	Scoliosis
ORPHA:955	NOTCH2	4853	HP:0000316	Hypertelorism
ORPHA:955	NOTCH2	4853	HP:0000160	Narrow mouth
ORPHA:955	NOTCH2	4853	HP:0000268	Dolichocephaly
ORPHA:955	NOTCH2	4853	HP:0000574	Thick eyebrow
ORPHA:955	NOTCH2	4853	HP:0001831	Short toe
ORPHA:955	NOTCH2	4853	HP:0002797	Osteolysis
ORPHA:955	NOTCH2	4853	HP:0004322	Short stature
ORPHA:955	NOTCH2	4853	HP:0000293	Full cheeks
ORPHA:955	NOTCH2	4853	HP:0002645	Wormian bones
ORPHA:955	NOTCH2	4853	HP:0010807	Open bite
ORPHA:955	NOTCH2	4853	HP:0002230	Generalized hirsutism
ORPHA:955	NOTCH2	4853	HP:0000343	Long philtrum
ORPHA:955	NOTCH2	4853	HP:0004331	Decreased skull ossification
ORPHA:955	NOTCH2	4853	HP:0000256	Macrocephaly
OMIM:147060	STAT3	6774	HP:0005425	Recurrent sinopulmonary infections
OMIM:147060	STAT3	6774	HP:0000445	Wide nose
OMIM:147060	STAT3	6774	HP:0002007	Frontal bossing
OMIM:147060	STAT3	6774	HP:0002650	Scoliosis
OMIM:147060	STAT3	6774	HP:0006335	Persistence of primary teeth
OMIM:147060	STAT3	6774	HP:0000316	Hypertelorism
OMIM:147060	STAT3	6774	HP:0000938	Osteopenia
OMIM:147060	STAT3	6774	HP:0002841	Recurrent fungal infections
OMIM:147060	STAT3	6774	HP:0000006	Autosomal dominant inheritance
OMIM:147060	STAT3	6774	HP:0011220	Prominent forehead
OMIM:147060	STAT3	6774	HP:0003593	Infantile onset
OMIM:147060	STAT3	6774	HP:0000280	Coarse facial features
OMIM:147060	STAT3	6774	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:147060	STAT3	6774	HP:0001382	Joint hypermobility
OMIM:147060	STAT3	6774	HP:0000218	High palate
OMIM:147060	STAT3	6774	HP:0001880	Eosinophilia
OMIM:147060	STAT3	6774	HP:0000976	Eczematoid dermatitis
OMIM:147060	STAT3	6774	HP:0002757	Recurrent fractures
OMIM:147060	STAT3	6774	HP:0003212	Increased IgE level
OMIM:615523	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:615523	AGBL1	123624	HP:0000006	Autosomal dominant inheritance
OMIM:616115	NLRC4	58484	HP:0025303	Episodic
OMIM:616115	NLRC4	58484	HP:0000006	Autosomal dominant inheritance
OMIM:616115	NLRC4	58484	HP:0002829	Arthralgia
OMIM:610441	SLC34A2	10568	HP:0012215	Testicular microlithiasis
OMIM:614017	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:614017	DNAL1	83544	HP:0003577	Congenital onset
OMIM:614017	DNAL1	83544	HP:0012256	Absent outer dynein arms
OMIM:614017	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAL1	83544	HP:0000389	Chronic otitis media
OMIM:614017	DNAL1	83544	HP:0002257	Chronic rhinitis
OMIM:614017	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:614017	DNAL1	83544	HP:0012265	Ciliary dyskinesia
OMIM:614017	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:277410	MMADHC	27249	HP:0003524	Decreased methionine synthase activity
OMIM:277410	MMADHC	27249	HP:0002160	Hyperhomocystinemia
OMIM:277410	MMADHC	27249	HP:0001250	Seizures
OMIM:277410	MMADHC	27249	HP:0002912	Methylmalonic acidemia
OMIM:277410	MMADHC	27249	HP:0002156	Homocystinuria
OMIM:277410	MMADHC	27249	HP:0003223	Decreased methylcobalamin
OMIM:277410	MMADHC	27249	HP:0003658	Hypomethioninemia
OMIM:277410	MMADHC	27249	HP:0001249	Intellectual disability
OMIM:277410	MMADHC	27249	HP:0001254	Lethargy
OMIM:277410	MMADHC	27249	HP:0001263	Global developmental delay
OMIM:277410	MMADHC	27249	HP:0001889	Megaloblastic anemia
OMIM:277410	MMADHC	27249	HP:0001332	Dystonia
OMIM:277410	MMADHC	27249	HP:0000007	Autosomal recessive inheritance
OMIM:277410	MMADHC	27249	HP:0003593	Infantile onset
OMIM:277410	MMADHC	27249	HP:0000639	Nystagmus
OMIM:277410	MMADHC	27249	HP:0003145	Decreased adenosylcobalamin
OMIM:277410	MMADHC	27249	HP:0001290	Generalized hypotonia
OMIM:277410	MMADHC	27249	HP:0003210	Decreased methylmalonyl-CoA mutase activity
OMIM:277410	MMADHC	27249	HP:0002497	Spastic ataxia
OMIM:277410	MMADHC	27249	HP:0005518	Increased mean corpuscular volume
OMIM:277410	MMADHC	27249	HP:0002120	Cerebral cortical atrophy
OMIM:277410	MMADHC	27249	HP:0012120	Methylmalonic aciduria
OMIM:215470	PNPLA6	10908	HP:0001135	Chorioretinal dystrophy
OMIM:215470	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:215470	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:215470	PNPLA6	10908	HP:0000556	Retinal dystrophy
OMIM:215470	PNPLA6	10908	HP:0001265	Hyporeflexia
OMIM:215470	PNPLA6	10908	HP:0002168	Scanning speech
OMIM:215470	PNPLA6	10908	HP:0001251	Ataxia
OMIM:215470	PNPLA6	10908	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215470	PNPLA6	10908	HP:0002080	Intention tremor
OMIM:215470	PNPLA6	10908	HP:0003676	Progressive
OMIM:215470	PNPLA6	10908	HP:0000529	Progressive visual loss
OMIM:215470	PNPLA6	10908	HP:0003621	Juvenile onset
OMIM:215470	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:215470	PNPLA6	10908	HP:0000613	Photophobia
OMIM:215470	PNPLA6	10908	HP:0001284	Areflexia
OMIM:215470	PNPLA6	10908	HP:0007263	Spinocerebellar atrophy
OMIM:215470	PNPLA6	10908	HP:0001272	Cerebellar atrophy
OMIM:270700	ZFYVE26	23503	HP:0001258	Spastic paraplegia
OMIM:270700	ZFYVE26	23503	HP:0002169	Clonus
OMIM:270700	ZFYVE26	23503	HP:0000505	Visual impairment
OMIM:270700	ZFYVE26	23503	HP:0001260	Dysarthria
OMIM:270700	ZFYVE26	23503	HP:0002079	Hypoplasia of the corpus callosum
OMIM:270700	ZFYVE26	23503	HP:0000007	Autosomal recessive inheritance
OMIM:270700	ZFYVE26	23503	HP:0000608	Macular degeneration
OMIM:270700	ZFYVE26	23503	HP:0001761	Pes cavus
OMIM:270700	ZFYVE26	23503	HP:0001249	Intellectual disability
OMIM:270700	ZFYVE26	23503	HP:0002064	Spastic gait
OMIM:270700	ZFYVE26	23503	HP:0003487	Babinski sign
OMIM:270700	ZFYVE26	23503	HP:0000020	Urinary incontinence
OMIM:270700	ZFYVE26	23503	HP:0000720	Mood swings
OMIM:270700	ZFYVE26	23503	HP:0003693	Distal amyotrophy
OMIM:270700	ZFYVE26	23503	HP:0000709	Psychosis
OMIM:270700	ZFYVE26	23503	HP:0007340	Lower limb muscle weakness
OMIM:270700	ZFYVE26	23503	HP:0002607	Bowel incontinence
OMIM:270700	ZFYVE26	23503	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:270700	ZFYVE26	23503	HP:0007663	Reduced visual acuity
OMIM:270700	ZFYVE26	23503	HP:0001251	Ataxia
OMIM:270700	ZFYVE26	23503	HP:0003812	Phenotypic variability
OMIM:270700	ZFYVE26	23503	HP:0000012	Urinary urgency
OMIM:270700	ZFYVE26	23503	HP:0002061	Lower limb spasticity
OMIM:270700	ZFYVE26	23503	HP:0003676	Progressive
ORPHA:85164	FGFR3	2261	HP:0000365	Hearing impairment
ORPHA:85164	FGFR3	2261	HP:0002650	Scoliosis
ORPHA:85164	FGFR3	2261	HP:0100491	Abnormality of lower limb joint
ORPHA:85164	FGFR3	2261	HP:0100490	Camptodactyly of finger
OMIM:182230	HESX1	8820	HP:0000873	Diabetes insipidus
OMIM:182230	HESX1	8820	HP:0000609	Optic nerve hypoplasia
OMIM:182230	HESX1	8820	HP:0001263	Global developmental delay
OMIM:182230	HESX1	8820	HP:0009381	Short finger
OMIM:182230	HESX1	8820	HP:0007766	Optic disc hypoplasia
OMIM:182230	HESX1	8820	HP:0001331	Absent septum pellucidum
OMIM:182230	HESX1	8820	HP:0004322	Short stature
OMIM:182230	HESX1	8820	HP:0010627	Anterior pituitary hypoplasia
OMIM:182230	HESX1	8820	HP:0001274	Agenesis of corpus callosum
OMIM:182230	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:182230	HESX1	8820	HP:0003812	Phenotypic variability
OMIM:182230	HESX1	8820	HP:0000824	Growth hormone deficiency
OMIM:182230	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:182230	HESX1	8820	HP:0010442	Polydactyly
OMIM:212050	CARD9	64170	HP:0009098	Chronic oral candidiasis
OMIM:212050	CARD9	64170	HP:0001597	Abnormality of the nail
OMIM:212050	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:212050	CARD9	64170	HP:0002721	Immunodeficiency
OMIM:212050	CARD9	64170	HP:0012203	Onychomycosis
OMIM:212050	CARD9	64170	HP:0001871	Abnormality of blood and blood-forming tissues
ORPHA:324422	ALG13	79868	HP:0001290	Generalized hypotonia
ORPHA:324422	ALG13	79868	HP:0000343	Long philtrum
ORPHA:324422	ALG13	79868	HP:0012469	Infantile spasms
ORPHA:324422	ALG13	79868	HP:0002521	Hypsarrhythmia
ORPHA:181	EDA2R	60401	HP:0000457	Depressed nasal ridge
ORPHA:181	EDA2R	60401	HP:0010803	Everted upper lip vermilion
ORPHA:181	EDA2R	60401	HP:0000966	Hypohidrosis
ORPHA:181	EDA2R	60401	HP:0000684	Delayed eruption of teeth
ORPHA:181	EDA2R	60401	HP:0000691	Microdontia
ORPHA:181	EDA2R	60401	HP:0002231	Sparse body hair
ORPHA:181	EDA2R	60401	HP:0001006	Hypotrichosis
ORPHA:181	EDA2R	60401	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:181	EDA2R	60401	HP:0002007	Frontal bossing
ORPHA:181	EDA2R	60401	HP:0000232	Everted lower lip vermilion
ORPHA:181	EDA	1896	HP:0000457	Depressed nasal ridge
ORPHA:181	EDA	1896	HP:0010803	Everted upper lip vermilion
ORPHA:181	EDA	1896	HP:0000966	Hypohidrosis
ORPHA:181	EDA	1896	HP:0000684	Delayed eruption of teeth
ORPHA:181	EDA	1896	HP:0000691	Microdontia
ORPHA:181	EDA	1896	HP:0002231	Sparse body hair
ORPHA:181	EDA	1896	HP:0001006	Hypotrichosis
ORPHA:181	EDA	1896	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:181	EDA	1896	HP:0002007	Frontal bossing
ORPHA:181	EDA	1896	HP:0000232	Everted lower lip vermilion
OMIM:248600	BCKDHA	593	HP:0001259	Coma
OMIM:248600	BCKDHA	593	HP:0002181	Cerebral edema
OMIM:248600	BCKDHA	593	HP:0008872	Feeding difficulties in infancy
OMIM:248600	BCKDHA	593	HP:0001276	Hypertonia
OMIM:248600	BCKDHA	593	HP:0002013	Vomiting
OMIM:248600	BCKDHA	593	HP:0001290	Generalized hypotonia
OMIM:248600	BCKDHA	593	HP:0000007	Autosomal recessive inheritance
OMIM:248600	BCKDHA	593	HP:0001249	Intellectual disability
OMIM:248600	BCKDHA	593	HP:0001250	Seizures
OMIM:248600	BCKDHA	593	HP:0003128	Lactic acidosis
OMIM:248600	BCKDHA	593	HP:0000738	Hallucinations
OMIM:248600	BCKDHA	593	HP:0001254	Lethargy
OMIM:248600	BCKDHA	593	HP:0008344	Elevated plasma branched chain amino acids
OMIM:248600	BCKDHA	593	HP:0001251	Ataxia
OMIM:248600	BCKDHA	593	HP:0001943	Hypoglycemia
OMIM:248600	BCKDHA	593	HP:0001946	Ketosis
OMIM:248600	BCKDHA	593	HP:0001507	Growth abnormality
OMIM:248600	BCKDHA	593	HP:0001733	Pancreatitis
OMIM:248600	BCKDHB	594	HP:0001259	Coma
OMIM:248600	BCKDHB	594	HP:0002181	Cerebral edema
OMIM:248600	BCKDHB	594	HP:0008872	Feeding difficulties in infancy
OMIM:248600	BCKDHB	594	HP:0001276	Hypertonia
OMIM:248600	BCKDHB	594	HP:0002013	Vomiting
OMIM:248600	BCKDHB	594	HP:0001290	Generalized hypotonia
OMIM:248600	BCKDHB	594	HP:0000007	Autosomal recessive inheritance
OMIM:248600	BCKDHB	594	HP:0001249	Intellectual disability
OMIM:248600	BCKDHB	594	HP:0001250	Seizures
OMIM:248600	BCKDHB	594	HP:0003128	Lactic acidosis
OMIM:248600	BCKDHB	594	HP:0000738	Hallucinations
OMIM:248600	BCKDHB	594	HP:0001254	Lethargy
OMIM:248600	BCKDHB	594	HP:0008344	Elevated plasma branched chain amino acids
OMIM:248600	BCKDHB	594	HP:0001251	Ataxia
OMIM:248600	BCKDHB	594	HP:0001943	Hypoglycemia
OMIM:248600	BCKDHB	594	HP:0001946	Ketosis
OMIM:248600	BCKDHB	594	HP:0001507	Growth abnormality
OMIM:248600	BCKDHB	594	HP:0001733	Pancreatitis
OMIM:248600	DBT	1629	HP:0001259	Coma
OMIM:248600	DBT	1629	HP:0002181	Cerebral edema
OMIM:248600	DBT	1629	HP:0008872	Feeding difficulties in infancy
OMIM:248600	DBT	1629	HP:0001276	Hypertonia
OMIM:248600	DBT	1629	HP:0002013	Vomiting
OMIM:248600	DBT	1629	HP:0001290	Generalized hypotonia
OMIM:248600	DBT	1629	HP:0000007	Autosomal recessive inheritance
OMIM:248600	DBT	1629	HP:0001249	Intellectual disability
OMIM:248600	DBT	1629	HP:0001250	Seizures
OMIM:248600	DBT	1629	HP:0003128	Lactic acidosis
OMIM:248600	DBT	1629	HP:0000738	Hallucinations
OMIM:248600	DBT	1629	HP:0001254	Lethargy
OMIM:248600	DBT	1629	HP:0008344	Elevated plasma branched chain amino acids
OMIM:248600	DBT	1629	HP:0001251	Ataxia
OMIM:248600	DBT	1629	HP:0001943	Hypoglycemia
OMIM:248600	DBT	1629	HP:0001946	Ketosis
OMIM:248600	DBT	1629	HP:0001507	Growth abnormality
OMIM:248600	DBT	1629	HP:0001733	Pancreatitis
OMIM:611067	PLEKHG5	57449	HP:0003678	Rapidly progressive
OMIM:611067	PLEKHG5	57449	HP:0003693	Distal amyotrophy
OMIM:611067	PLEKHG5	57449	HP:0003307	Hyperlordosis
OMIM:611067	PLEKHG5	57449	HP:0002366	Abnormal lower motor neuron morphology
OMIM:611067	PLEKHG5	57449	HP:0003551	Difficulty climbing stairs
OMIM:611067	PLEKHG5	57449	HP:0002650	Scoliosis
OMIM:611067	PLEKHG5	57449	HP:0003697	Scapuloperoneal amyotrophy
OMIM:611067	PLEKHG5	57449	HP:0009473	Joint contracture of the hand
OMIM:611067	PLEKHG5	57449	HP:0011463	Childhood onset
OMIM:611067	PLEKHG5	57449	HP:0001762	Talipes equinovarus
OMIM:611067	PLEKHG5	57449	HP:0007269	Spinal muscular atrophy
OMIM:611067	PLEKHG5	57449	HP:0001284	Areflexia
OMIM:611067	PLEKHG5	57449	HP:0002515	Waddling gait
OMIM:611067	PLEKHG5	57449	HP:0003445	EMG: neuropathic changes
OMIM:611067	PLEKHG5	57449	HP:0002460	Distal muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0000007	Autosomal recessive inheritance
OMIM:611067	PLEKHG5	57449	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0003701	Proximal muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0002355	Difficulty walking
OMIM:131300	TGFB1	7040	HP:0000303	Mandibular prognathia
OMIM:131300	TGFB1	7040	HP:0000365	Hearing impairment
OMIM:131300	TGFB1	7040	HP:0001324	Muscle weakness
OMIM:131300	TGFB1	7040	HP:0003202	Skeletal muscle atrophy
OMIM:131300	TGFB1	7040	HP:0005528	Bone marrow hypocellularity
OMIM:131300	TGFB1	7040	HP:0007807	Optic nerve compression
OMIM:131300	TGFB1	7040	HP:0009763	Limb pain
OMIM:131300	TGFB1	7040	HP:0002315	Headache
OMIM:131300	TGFB1	7040	HP:0000006	Autosomal dominant inheritance
OMIM:131300	TGFB1	7040	HP:0000651	Diplopia
OMIM:131300	TGFB1	7040	HP:0002650	Scoliosis
OMIM:131300	TGFB1	7040	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:131300	TGFB1	7040	HP:0003034	Diaphyseal sclerosis
OMIM:131300	TGFB1	7040	HP:0001533	Slender build
OMIM:131300	TGFB1	7040	HP:0000520	Proptosis
OMIM:131300	TGFB1	7040	HP:0002857	Genu valgum
OMIM:131300	TGFB1	7040	HP:0002515	Waddling gait
OMIM:131300	TGFB1	7040	HP:0003621	Juvenile onset
OMIM:131300	TGFB1	7040	HP:0000823	Delayed puberty
OMIM:131300	TGFB1	7040	HP:0005791	Cortical thickening of long bone diaphyses
OMIM:131300	TGFB1	7040	HP:0003388	Easy fatigability
OMIM:131300	TGFB1	7040	HP:0000670	Carious teeth
OMIM:131300	TGFB1	7040	HP:0002694	Sclerosis of skull base
OMIM:131300	TGFB1	7040	HP:0004396	Poor appetite
ORPHA:264200	BMP4	652	HP:0000046	Scrotal hypoplasia
ORPHA:264200	BMP4	652	HP:0000430	Underdeveloped nasal alae
ORPHA:264200	BMP4	652	HP:0012521	Optic nerve aplasia
ORPHA:264200	BMP4	652	HP:0001252	Muscular hypotonia
ORPHA:264200	BMP4	652	HP:0000494	Downslanted palpebral fissures
ORPHA:264200	BMP4	652	HP:0000348	High forehead
ORPHA:264200	BMP4	652	HP:0001263	Global developmental delay
ORPHA:264200	BMP4	652	HP:0000384	Preauricular skin tag
ORPHA:264200	BMP4	652	HP:0004322	Short stature
ORPHA:264200	BMP4	652	HP:0002119	Ventriculomegaly
ORPHA:264200	BMP4	652	HP:0000378	Cupped ear
ORPHA:264200	BMP4	652	HP:0000316	Hypertelorism
ORPHA:264200	BMP4	652	HP:0002714	Downturned corners of mouth
ORPHA:264200	BMP4	652	HP:0000248	Brachycephaly
ORPHA:264200	BMP4	652	HP:0000528	Anophthalmia
ORPHA:264200	BMP4	652	HP:0001274	Agenesis of corpus callosum
ORPHA:264200	BMP4	652	HP:0000358	Posteriorly rotated ears
ORPHA:264200	BMP4	652	HP:0010627	Anterior pituitary hypoplasia
ORPHA:264200	BMP4	652	HP:0000028	Cryptorchidism
ORPHA:264200	BMP4	652	HP:0000272	Malar flattening
ORPHA:264200	BMP4	652	HP:0000520	Proptosis
ORPHA:264200	BMP4	652	HP:0000508	Ptosis
ORPHA:264200	BMP4	652	HP:0000347	Micrognathia
ORPHA:264200	BMP4	652	HP:0000873	Diabetes insipidus
ORPHA:264200	BMP4	652	HP:0000286	Epicanthus
ORPHA:264200	BMP4	652	HP:0000413	Atresia of the external auditory canal
ORPHA:264200	SIX6	4990	HP:0000046	Scrotal hypoplasia
ORPHA:264200	SIX6	4990	HP:0000430	Underdeveloped nasal alae
ORPHA:264200	SIX6	4990	HP:0012521	Optic nerve aplasia
ORPHA:264200	SIX6	4990	HP:0001252	Muscular hypotonia
ORPHA:264200	SIX6	4990	HP:0000494	Downslanted palpebral fissures
ORPHA:264200	SIX6	4990	HP:0000348	High forehead
ORPHA:264200	SIX6	4990	HP:0001263	Global developmental delay
ORPHA:264200	SIX6	4990	HP:0000384	Preauricular skin tag
ORPHA:264200	SIX6	4990	HP:0004322	Short stature
ORPHA:264200	SIX6	4990	HP:0002119	Ventriculomegaly
ORPHA:264200	SIX6	4990	HP:0000378	Cupped ear
ORPHA:264200	SIX6	4990	HP:0000316	Hypertelorism
ORPHA:264200	SIX6	4990	HP:0002714	Downturned corners of mouth
ORPHA:264200	SIX6	4990	HP:0000248	Brachycephaly
ORPHA:264200	SIX6	4990	HP:0000528	Anophthalmia
ORPHA:264200	SIX6	4990	HP:0001274	Agenesis of corpus callosum
ORPHA:264200	SIX6	4990	HP:0000358	Posteriorly rotated ears
ORPHA:264200	SIX6	4990	HP:0010627	Anterior pituitary hypoplasia
ORPHA:264200	SIX6	4990	HP:0000028	Cryptorchidism
ORPHA:264200	SIX6	4990	HP:0000272	Malar flattening
ORPHA:264200	SIX6	4990	HP:0000520	Proptosis
ORPHA:264200	SIX6	4990	HP:0000508	Ptosis
ORPHA:264200	SIX6	4990	HP:0000347	Micrognathia
ORPHA:264200	SIX6	4990	HP:0000873	Diabetes insipidus
ORPHA:264200	SIX6	4990	HP:0000286	Epicanthus
ORPHA:264200	SIX6	4990	HP:0000413	Atresia of the external auditory canal
OMIM:300554	CLCN5	1184	HP:0004912	Hypophosphatemic rickets
OMIM:300554	CLCN5	1184	HP:0003025	Metaphyseal irregularity
OMIM:300554	CLCN5	1184	HP:0000117	Renal phosphate wasting
OMIM:300554	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:300554	CLCN5	1184	HP:0003029	Enlargement of the ankles
OMIM:300554	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:300554	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:300554	CLCN5	1184	HP:0003020	Enlargement of the wrists
OMIM:300554	CLCN5	1184	HP:0004322	Short stature
OMIM:300554	CLCN5	1184	HP:0002979	Bowing of the legs
OMIM:300554	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:300554	CLCN5	1184	HP:0002982	Tibial bowing
OMIM:300554	CLCN5	1184	HP:0003013	Bulging epiphyses
OMIM:300554	CLCN5	1184	HP:0002748	Rickets
OMIM:300554	CLCN5	1184	HP:0002749	Osteomalacia
OMIM:300554	CLCN5	1184	HP:0002753	Thin bony cortex
OMIM:300554	CLCN5	1184	HP:0000114	Proximal tubulopathy
OMIM:300554	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:300554	CLCN5	1184	HP:0010502	Fibular bowing
OMIM:300554	CLCN5	1184	HP:0002653	Bone pain
OMIM:300554	CLCN5	1184	HP:0002752	Sparse bone trabeculae
OMIM:300554	CLCN5	1184	HP:0003152	Increased serum 1,25-dihydroxyvitamin D3
OMIM:300554	CLCN5	1184	HP:0002757	Recurrent fractures
OMIM:300554	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:300554	CLCN5	1184	HP:0002980	Femoral bowing
OMIM:300554	CLCN5	1184	HP:0003126	Low-molecular-weight proteinuria
OMIM:300554	CLCN5	1184	HP:0002663	Delayed epiphyseal ossification
OMIM:300554	CLCN5	1184	HP:0002150	Hypercalciuria
ORPHA:93283	ACAN	176	HP:0000926	Platyspondyly
ORPHA:93283	ACAN	176	HP:0010306	Short thorax
ORPHA:93283	ACAN	176	HP:0002758	Osteoarthritis
ORPHA:93283	ACAN	176	HP:0003508	Proportionate short stature
ORPHA:93283	ACAN	176	HP:0002655	Spondyloepiphyseal dysplasia
ORPHA:93283	ACAN	176	HP:0002983	Micromelia
ORPHA:93283	ACAN	176	HP:0005930	Abnormality of epiphysis morphology
OMIM:180860	H19	283120	HP:0005461	Craniofacial disproportion
OMIM:180860	H19	283120	HP:0100617	Testicular seminoma
OMIM:180860	H19	283120	HP:0000325	Triangular face
OMIM:180860	H19	283120	HP:0002007	Frontal bossing
OMIM:180860	H19	283120	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180860	H19	283120	HP:0010957	Congenital posterior urethral valve
OMIM:180860	H19	283120	HP:0000069	Abnormality of the ureter
OMIM:180860	H19	283120	HP:0002667	Nephroblastoma
OMIM:180860	H19	283120	HP:0000270	Delayed cranial suture closure
OMIM:180860	H19	283120	HP:0000824	Growth hormone deficiency
OMIM:180860	H19	283120	HP:0002750	Delayed skeletal maturation
OMIM:180860	H19	283120	HP:0003162	Fasting hypoglycemia
OMIM:180860	H19	283120	HP:0004227	Short distal phalanx of the 5th finger
OMIM:180860	H19	283120	HP:0002714	Downturned corners of mouth
OMIM:180860	H19	283120	HP:0001518	Small for gestational age
OMIM:180860	H19	283120	HP:0001511	Intrauterine growth retardation
OMIM:180860	H19	283120	HP:0000592	Blue sclerae
OMIM:180860	H19	283120	HP:0001626	Abnormality of the cardiovascular system
OMIM:180860	H19	283120	HP:0000957	Cafe-au-lait spot
OMIM:180860	H19	283120	HP:0001263	Global developmental delay
OMIM:180860	H19	283120	HP:0003745	Sporadic
OMIM:180860	H19	283120	HP:0000047	Hypospadias
OMIM:180860	H19	283120	HP:0001159	Syndactyly
OMIM:180860	H19	283120	HP:0000347	Micrognathia
OMIM:180860	H19	283120	HP:0004209	Clinodactyly of the 5th finger
OMIM:180860	H19	283120	HP:0001402	Hepatocellular carcinoma
OMIM:180860	H19	283120	HP:0001760	Abnormality of the foot
OMIM:180860	H19	283120	HP:0030062	Craniopharyngioma
OMIM:180860	IGF2	3481	HP:0005461	Craniofacial disproportion
OMIM:180860	IGF2	3481	HP:0100617	Testicular seminoma
OMIM:180860	IGF2	3481	HP:0000325	Triangular face
OMIM:180860	IGF2	3481	HP:0002007	Frontal bossing
OMIM:180860	IGF2	3481	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180860	IGF2	3481	HP:0010957	Congenital posterior urethral valve
OMIM:180860	IGF2	3481	HP:0000069	Abnormality of the ureter
OMIM:180860	IGF2	3481	HP:0002667	Nephroblastoma
OMIM:180860	IGF2	3481	HP:0000270	Delayed cranial suture closure
OMIM:180860	IGF2	3481	HP:0000824	Growth hormone deficiency
OMIM:180860	IGF2	3481	HP:0002750	Delayed skeletal maturation
OMIM:180860	IGF2	3481	HP:0003162	Fasting hypoglycemia
OMIM:180860	IGF2	3481	HP:0004227	Short distal phalanx of the 5th finger
OMIM:180860	IGF2	3481	HP:0002714	Downturned corners of mouth
OMIM:180860	IGF2	3481	HP:0001518	Small for gestational age
OMIM:180860	IGF2	3481	HP:0001511	Intrauterine growth retardation
OMIM:180860	IGF2	3481	HP:0000592	Blue sclerae
OMIM:180860	IGF2	3481	HP:0001626	Abnormality of the cardiovascular system
OMIM:180860	IGF2	3481	HP:0000957	Cafe-au-lait spot
OMIM:180860	IGF2	3481	HP:0001263	Global developmental delay
OMIM:180860	IGF2	3481	HP:0003745	Sporadic
OMIM:180860	IGF2	3481	HP:0000047	Hypospadias
OMIM:180860	IGF2	3481	HP:0001159	Syndactyly
OMIM:180860	IGF2	3481	HP:0000347	Micrognathia
OMIM:180860	IGF2	3481	HP:0004209	Clinodactyly of the 5th finger
OMIM:180860	IGF2	3481	HP:0001402	Hepatocellular carcinoma
OMIM:180860	IGF2	3481	HP:0001760	Abnormality of the foot
OMIM:180860	IGF2	3481	HP:0030062	Craniopharyngioma
OMIM:614652	PDSS2	57107	HP:0002133	Status epilepticus
OMIM:614652	PDSS2	57107	HP:0000007	Autosomal recessive inheritance
OMIM:614652	PDSS2	57107	HP:0000093	Proteinuria
OMIM:614652	PDSS2	57107	HP:0000100	Nephrotic syndrome
OMIM:614652	PDSS2	57107	HP:0000969	Edema
OMIM:614652	PDSS2	57107	HP:0011968	Feeding difficulties
OMIM:614652	PDSS2	57107	HP:0002151	Increased serum lactate
OMIM:614652	PDSS2	57107	HP:0001319	Neonatal hypotonia
OMIM:614652	PDSS2	57107	HP:0100704	Cortical visual impairment
OMIM:278780	ERCC5	2073	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278780	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
OMIM:278780	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:278780	ERCC5	2073	HP:0003828	Variable expressivity
OMIM:610154	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
ORPHA:370924	STT3B	201595	HP:0001250	Seizures
ORPHA:370924	STT3B	201595	HP:0000046	Scrotal hypoplasia
ORPHA:370924	STT3B	201595	HP:0012345	Abnormal glycosylation
ORPHA:370924	STT3B	201595	HP:0000028	Cryptorchidism
ORPHA:370924	STT3B	201595	HP:0011968	Feeding difficulties
ORPHA:370924	STT3B	201595	HP:0001290	Generalized hypotonia
ORPHA:370924	STT3B	201595	HP:0001511	Intrauterine growth retardation
ORPHA:370924	STT3B	201595	HP:0001508	Failure to thrive
ORPHA:370924	STT3B	201595	HP:0001263	Global developmental delay
ORPHA:370924	STT3B	201595	HP:0000252	Microcephaly
ORPHA:370924	STT3B	201595	HP:0001249	Intellectual disability
ORPHA:370924	STT3B	201595	HP:0001272	Cerebellar atrophy
ORPHA:370924	STT3B	201595	HP:0000054	Micropenis
ORPHA:370924	STT3B	201595	HP:0000648	Optic atrophy
ORPHA:370924	STT3B	201595	HP:0001873	Thrombocytopenia
ORPHA:370924	STT3B	201595	HP:0002098	Respiratory distress
OMIM:194071	H19	283120	HP:0001428	Somatic mutation
OMIM:194071	H19	283120	HP:0002667	Nephroblastoma
OMIM:194071	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:300220	HSD17B10	3028	HP:0000709	Psychosis
OMIM:300220	HSD17B10	3028	HP:0001249	Intellectual disability
OMIM:300220	HSD17B10	3028	HP:0001260	Dysarthria
OMIM:300220	HSD17B10	3028	HP:0001266	Choreoathetosis
OMIM:300220	HSD17B10	3028	HP:0001257	Spasticity
OMIM:300220	HSD17B10	3028	HP:0000713	Agitation
OMIM:300220	HSD17B10	3028	HP:0009062	Infantile axial hypotonia
OMIM:300220	HSD17B10	3028	HP:0002136	Broad-based gait
OMIM:300220	HSD17B10	3028	HP:0000718	Aggressive behavior
OMIM:300220	HSD17B10	3028	HP:0001166	Arachnodactyly
OMIM:300220	HSD17B10	3028	HP:0003593	Infantile onset
OMIM:300220	HSD17B10	3028	HP:0001419	X-linked recessive inheritance
OMIM:300220	HSD17B10	3028	HP:0001270	Motor delay
OMIM:300220	HSD17B10	3028	HP:0000738	Hallucinations
OMIM:300220	HSD17B10	3028	HP:0001347	Hyperreflexia
OMIM:300220	HSD17B10	3028	HP:0002938	Lumbar hyperlordosis
OMIM:616858	SEC23B	10483	HP:0030075	Ductal carcinoma in situ
OMIM:616858	SEC23B	10483	HP:0000256	Macrocephaly
OMIM:616858	SEC23B	10483	HP:0001028	Hemangioma
OMIM:616858	SEC23B	10483	HP:0003002	Breast carcinoma
OMIM:616858	SEC23B	10483	HP:0200008	Intestinal polyposis
OMIM:616858	SEC23B	10483	HP:0000006	Autosomal dominant inheritance
OMIM:616858	SEC23B	10483	HP:0000872	Hashimoto thyroiditis
OMIM:616858	SEC23B	10483	HP:0012844	Trichilemmoma
ORPHA:1865	HSPG2	3339	HP:0002983	Micromelia
ORPHA:1865	HSPG2	3339	HP:0008873	Disproportionate short-limb short stature
ORPHA:1865	HSPG2	3339	HP:0000457	Depressed nasal ridge
ORPHA:1865	HSPG2	3339	HP:0000944	Abnormality of the metaphysis
ORPHA:1865	HSPG2	3339	HP:0000347	Micrognathia
ORPHA:1865	HSPG2	3339	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:1865	HSPG2	3339	HP:0002093	Respiratory insufficiency
ORPHA:1865	HSPG2	3339	HP:0006487	Bowing of the long bones
ORPHA:1865	HSPG2	3339	HP:0000023	Inguinal hernia
ORPHA:1865	HSPG2	3339	HP:0002879	Anisospondyly
ORPHA:1865	HSPG2	3339	HP:0001537	Umbilical hernia
ORPHA:1865	HSPG2	3339	HP:0001387	Joint stiffness
ORPHA:1865	HSPG2	3339	HP:0001631	Atrial septal defect
ORPHA:1865	HSPG2	3339	HP:0000592	Blue sclerae
ORPHA:1865	HSPG2	3339	HP:0000774	Narrow chest
ORPHA:1865	HSPG2	3339	HP:0000175	Cleft palate
OMIM:611490	CLCN7	1186	HP:0002757	Recurrent fractures
OMIM:611490	CLCN7	1186	HP:0011002	Osteopetrosis
OMIM:611490	CLCN7	1186	HP:0001923	Reticulocytosis
OMIM:611490	CLCN7	1186	HP:0001433	Hepatosplenomegaly
OMIM:611490	CLCN7	1186	HP:0010628	Facial palsy
OMIM:611490	CLCN7	1186	HP:0001903	Anemia
OMIM:611490	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:610188	CEP290	80184	HP:0002871	Central apnea
OMIM:610188	CEP290	80184	HP:0001290	Generalized hypotonia
OMIM:610188	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	CEP290	80184	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	CEP290	80184	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	CEP290	80184	HP:0000639	Nystagmus
OMIM:610188	CEP290	80184	HP:0000657	Oculomotor apraxia
OMIM:610188	CEP290	80184	HP:0007875	Congenital blindness
OMIM:610188	CEP290	80184	HP:0000547	Tapetoretinal degeneration
OMIM:610188	CEP290	80184	HP:0000480	Retinal coloboma
OMIM:610188	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:610188	CEP290	80184	HP:0001249	Intellectual disability
OMIM:610188	CEP290	80184	HP:0004727	Impaired renal concentrating ability
OMIM:610188	CEP290	80184	HP:0000803	Renal cortical cysts
OMIM:610188	CEP290	80184	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:610188	CEP290	80184	HP:0001251	Ataxia
OMIM:610188	CEP290	80184	HP:0002876	Episodic tachypnea
OMIM:610188	CEP290	80184	HP:0000090	Nephronophthisis
ORPHA:261222	SH2B1	25970	HP:0000510	Rod-cone dystrophy
ORPHA:261222	SH2B1	25970	HP:0001319	Neonatal hypotonia
ORPHA:261222	SH2B1	25970	HP:0012450	Chronic constipation
ORPHA:261222	SH2B1	25970	HP:0001250	Seizures
ORPHA:261222	SH2B1	25970	HP:0001263	Global developmental delay
ORPHA:261222	SH2B1	25970	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:261222	SH2B1	25970	HP:0000160	Narrow mouth
ORPHA:261222	SH2B1	25970	HP:0001249	Intellectual disability
ORPHA:261222	SH2B1	25970	HP:0000294	Low anterior hairline
ORPHA:261222	SH2B1	25970	HP:0000093	Proteinuria
ORPHA:261222	SH2B1	25970	HP:0000104	Renal agenesis
ORPHA:261222	SH2B1	25970	HP:0000076	Vesicoureteral reflux
ORPHA:261222	SH2B1	25970	HP:0000300	Oval face
ORPHA:261222	SH2B1	25970	HP:0012622	Chronic kidney disease
ORPHA:261222	SH2B1	25970	HP:0002149	Hyperuricemia
ORPHA:261222	SH2B1	25970	HP:0011351	Moderate receptive language delay
ORPHA:261222	SH2B1	25970	HP:0001166	Arachnodactyly
ORPHA:261222	SH2B1	25970	HP:0002251	Aganglionic megacolon
ORPHA:261222	SH2B1	25970	HP:0001513	Obesity
ORPHA:261222	SH2B1	25970	HP:0000729	Autistic behavior
ORPHA:261222	SH2B1	25970	HP:0000426	Prominent nasal bridge
OMIM:270100	NODAL	4838	HP:0001629	Ventricular septal defect
OMIM:270100	NODAL	4838	HP:0002086	Abnormality of the respiratory system
OMIM:270100	NODAL	4838	HP:0001511	Intrauterine growth retardation
OMIM:270100	NODAL	4838	HP:0001631	Atrial septal defect
OMIM:270100	NODAL	4838	HP:0000007	Autosomal recessive inheritance
OMIM:270100	NODAL	4838	HP:0001651	Dextrocardia
OMIM:270100	NODAL	4838	HP:0000006	Autosomal dominant inheritance
OMIM:270100	NODAL	4838	HP:0003363	Abdominal situs inversus
OMIM:270100	NODAL	4838	HP:0001669	Transposition of the great arteries
OMIM:109800	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:109800	FGFR3	2261	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:109800	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:109800	KRAS	3845	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:109800	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:109800	RB1	5925	HP:0006740	Transitional cell carcinoma of the bladder
ORPHA:85202	MGP	4256	HP:0011108	Recurrent sinusitis
ORPHA:85202	MGP	4256	HP:0000430	Underdeveloped nasal alae
ORPHA:85202	MGP	4256	HP:0009882	Short distal phalanx of finger
ORPHA:85202	MGP	4256	HP:0000445	Wide nose
ORPHA:85202	MGP	4256	HP:0000340	Sloping forehead
ORPHA:85202	MGP	4256	HP:0001263	Global developmental delay
ORPHA:85202	MGP	4256	HP:0001256	Intellectual disability, mild
ORPHA:85202	MGP	4256	HP:0000365	Hearing impairment
ORPHA:85202	MGP	4256	HP:0100682	Tracheal atresia
ORPHA:85202	MGP	4256	HP:0011800	Midface retrusion
ORPHA:85202	MGP	4256	HP:0000276	Long face
ORPHA:85202	MGP	4256	HP:0002092	Pulmonary arterial hypertension
ORPHA:85202	MGP	4256	HP:0004415	Pulmonary artery stenosis
ORPHA:85202	MGP	4256	HP:0000403	Recurrent otitis media
ORPHA:85202	MGP	4256	HP:0100593	Calcification of cartilage
ORPHA:85202	MGP	4256	HP:0001629	Ventricular septal defect
ORPHA:85202	MGP	4256	HP:0005280	Depressed nasal bridge
OMIM:139210	SMAD4	4089	HP:0001072	Thickened skin
OMIM:139210	SMAD4	4089	HP:0001643	Patent ductus arteriosus
OMIM:139210	SMAD4	4089	HP:0001831	Short toe
OMIM:139210	SMAD4	4089	HP:0000470	Short neck
OMIM:139210	SMAD4	4089	HP:0010579	Cone-shaped epiphysis
OMIM:139210	SMAD4	4089	HP:0000490	Deeply set eye
OMIM:139210	SMAD4	4089	HP:0001671	Abnormality of the cardiac septa
OMIM:139210	SMAD4	4089	HP:0001845	Overlapping toe
OMIM:139210	SMAD4	4089	HP:0000540	Hypermetropia
OMIM:139210	SMAD4	4089	HP:0030053	Stiff skin
OMIM:139210	SMAD4	4089	HP:0000581	Blepharophimosis
OMIM:139210	SMAD4	4089	HP:0001680	Coarctation of aorta
OMIM:139210	SMAD4	4089	HP:0000303	Mandibular prognathia
OMIM:139210	SMAD4	4089	HP:0000316	Hypertelorism
OMIM:139210	SMAD4	4089	HP:0000369	Low-set ears
OMIM:139210	SMAD4	4089	HP:0009381	Short finger
OMIM:139210	SMAD4	4089	HP:0008551	Microtia
OMIM:139210	SMAD4	4089	HP:0000252	Microcephaly
OMIM:139210	SMAD4	4089	HP:0000327	Hypoplasia of the maxilla
OMIM:139210	SMAD4	4089	HP:0002866	Hypoplastic iliac wing
OMIM:139210	SMAD4	4089	HP:0000426	Prominent nasal bridge
OMIM:139210	SMAD4	4089	HP:0000717	Autism
OMIM:139210	SMAD4	4089	HP:0000219	Thin upper lip vermilion
OMIM:139210	SMAD4	4089	HP:0000272	Malar flattening
OMIM:139210	SMAD4	4089	HP:0002684	Thickened calvaria
OMIM:139210	SMAD4	4089	HP:0008070	Sparse hair
OMIM:139210	SMAD4	4089	HP:0000885	Broad ribs
OMIM:139210	SMAD4	4089	HP:0009466	Radial deviation of finger
OMIM:139210	SMAD4	4089	HP:0001376	Limitation of joint mobility
OMIM:139210	SMAD4	4089	HP:0001156	Brachydactyly
OMIM:139210	SMAD4	4089	HP:0003026	Short long bone
OMIM:139210	SMAD4	4089	HP:0012385	Camptodactyly
OMIM:139210	SMAD4	4089	HP:0000365	Hearing impairment
OMIM:139210	SMAD4	4089	HP:0001250	Seizures
OMIM:139210	SMAD4	4089	HP:0000160	Narrow mouth
OMIM:139210	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:139210	SMAD4	4089	HP:0001608	Abnormality of the voice
OMIM:139210	SMAD4	4089	HP:0003720	Generalized muscle hypertrophy
OMIM:139210	SMAD4	4089	HP:0000028	Cryptorchidism
OMIM:139210	SMAD4	4089	HP:0000486	Strabismus
OMIM:139210	SMAD4	4089	HP:0001698	Pericardial effusion
OMIM:139210	SMAD4	4089	HP:0000926	Platyspondyly
OMIM:139210	SMAD4	4089	HP:0002213	Fine hair
OMIM:139210	SMAD4	4089	HP:0001650	Aortic valve stenosis
OMIM:139210	SMAD4	4089	HP:0001511	Intrauterine growth retardation
OMIM:139210	SMAD4	4089	HP:0001249	Intellectual disability
OMIM:139210	SMAD4	4089	HP:0004322	Short stature
OMIM:139210	SMAD4	4089	HP:0000574	Thick eyebrow
OMIM:139210	SMAD4	4089	HP:0000822	Hypertension
OMIM:139210	SMAD4	4089	HP:0004691	2-3 toe syndactyly
OMIM:139210	SMAD4	4089	HP:0004621	Enlarged vertebral pedicles
OMIM:139210	SMAD4	4089	HP:0000322	Short philtrum
OMIM:139210	SMAD4	4089	HP:0030084	Clinodactyly
OMIM:139210	SMAD4	4089	HP:0011800	Midface retrusion
OMIM:139210	SMAD4	4089	HP:0004894	Laryngotracheal stenosis
OMIM:139210	SMAD4	4089	HP:0002948	Vertebral fusion
ORPHA:90654	COL11A1	1301	HP:0000488	Retinopathy
ORPHA:90654	COL11A1	1301	HP:0000518	Cataract
ORPHA:90654	COL11A1	1301	HP:0000541	Retinal detachment
ORPHA:90654	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
ORPHA:90654	COL11A1	1301	HP:0007957	Corneal opacity
ORPHA:90654	COL11A1	1301	HP:0000175	Cleft palate
ORPHA:90654	COL11A1	1301	HP:0000545	Myopia
ORPHA:90654	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
OMIM:171300	VHL	7428	HP:0000975	Hyperhidrosis
OMIM:171300	VHL	7428	HP:0001635	Congestive heart failure
OMIM:171300	VHL	7428	HP:0002664	Neoplasm
OMIM:171300	VHL	7428	HP:0001028	Hemangioma
OMIM:171300	VHL	7428	HP:0001342	Cerebral hemorrhage
OMIM:171300	VHL	7428	HP:0001649	Tachycardia
OMIM:171300	VHL	7428	HP:0001095	Hypertensive retinopathy
OMIM:171300	VHL	7428	HP:0000006	Autosomal dominant inheritance
OMIM:171300	VHL	7428	HP:0001920	Renal artery stenosis
OMIM:171300	VHL	7428	HP:0002666	Pheochromocytoma
OMIM:171300	VHL	7428	HP:0003072	Hypercalcemia
OMIM:171300	VHL	7428	HP:0003574	Positive regitine blocking test
OMIM:171300	VHL	7428	HP:0000875	Episodic hypertension
OMIM:171300	VHL	7428	HP:0003345	Elevated urinary norepinephrine
OMIM:171300	VHL	7428	HP:0000093	Proteinuria
OMIM:171300	VHL	7428	HP:0000519	Congenital cataract
OMIM:171300	VHL	7428	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHB	6390	HP:0000975	Hyperhidrosis
OMIM:171300	SDHB	6390	HP:0001635	Congestive heart failure
OMIM:171300	SDHB	6390	HP:0002664	Neoplasm
OMIM:171300	SDHB	6390	HP:0001028	Hemangioma
OMIM:171300	SDHB	6390	HP:0001342	Cerebral hemorrhage
OMIM:171300	SDHB	6390	HP:0001649	Tachycardia
OMIM:171300	SDHB	6390	HP:0001095	Hypertensive retinopathy
OMIM:171300	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHB	6390	HP:0001920	Renal artery stenosis
OMIM:171300	SDHB	6390	HP:0002666	Pheochromocytoma
OMIM:171300	SDHB	6390	HP:0003072	Hypercalcemia
OMIM:171300	SDHB	6390	HP:0003574	Positive regitine blocking test
OMIM:171300	SDHB	6390	HP:0000875	Episodic hypertension
OMIM:171300	SDHB	6390	HP:0003345	Elevated urinary norepinephrine
OMIM:171300	SDHB	6390	HP:0000093	Proteinuria
OMIM:171300	SDHB	6390	HP:0000519	Congenital cataract
OMIM:171300	SDHB	6390	HP:0000957	Cafe-au-lait spot
OMIM:171300	KIF1B	23095	HP:0000975	Hyperhidrosis
OMIM:171300	KIF1B	23095	HP:0001635	Congestive heart failure
OMIM:171300	KIF1B	23095	HP:0002664	Neoplasm
OMIM:171300	KIF1B	23095	HP:0001028	Hemangioma
OMIM:171300	KIF1B	23095	HP:0001342	Cerebral hemorrhage
OMIM:171300	KIF1B	23095	HP:0001649	Tachycardia
OMIM:171300	KIF1B	23095	HP:0001095	Hypertensive retinopathy
OMIM:171300	KIF1B	23095	HP:0000006	Autosomal dominant inheritance
OMIM:171300	KIF1B	23095	HP:0001920	Renal artery stenosis
OMIM:171300	KIF1B	23095	HP:0002666	Pheochromocytoma
OMIM:171300	KIF1B	23095	HP:0003072	Hypercalcemia
OMIM:171300	KIF1B	23095	HP:0003574	Positive regitine blocking test
OMIM:171300	KIF1B	23095	HP:0000875	Episodic hypertension
OMIM:171300	KIF1B	23095	HP:0003345	Elevated urinary norepinephrine
OMIM:171300	KIF1B	23095	HP:0000093	Proteinuria
OMIM:171300	KIF1B	23095	HP:0000519	Congenital cataract
OMIM:171300	KIF1B	23095	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHD	6392	HP:0000975	Hyperhidrosis
OMIM:171300	SDHD	6392	HP:0001635	Congestive heart failure
OMIM:171300	SDHD	6392	HP:0002664	Neoplasm
OMIM:171300	SDHD	6392	HP:0001028	Hemangioma
OMIM:171300	SDHD	6392	HP:0001342	Cerebral hemorrhage
OMIM:171300	SDHD	6392	HP:0001649	Tachycardia
OMIM:171300	SDHD	6392	HP:0001095	Hypertensive retinopathy
OMIM:171300	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHD	6392	HP:0001920	Renal artery stenosis
OMIM:171300	SDHD	6392	HP:0002666	Pheochromocytoma
OMIM:171300	SDHD	6392	HP:0003072	Hypercalcemia
OMIM:171300	SDHD	6392	HP:0003574	Positive regitine blocking test
OMIM:171300	SDHD	6392	HP:0000875	Episodic hypertension
OMIM:171300	SDHD	6392	HP:0003345	Elevated urinary norepinephrine
OMIM:171300	SDHD	6392	HP:0000093	Proteinuria
OMIM:171300	SDHD	6392	HP:0000519	Congenital cataract
OMIM:171300	SDHD	6392	HP:0000957	Cafe-au-lait spot
OMIM:171300	RET	5979	HP:0000975	Hyperhidrosis
OMIM:171300	RET	5979	HP:0001635	Congestive heart failure
OMIM:171300	RET	5979	HP:0002664	Neoplasm
OMIM:171300	RET	5979	HP:0001028	Hemangioma
OMIM:171300	RET	5979	HP:0001342	Cerebral hemorrhage
OMIM:171300	RET	5979	HP:0001649	Tachycardia
OMIM:171300	RET	5979	HP:0001095	Hypertensive retinopathy
OMIM:171300	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:171300	RET	5979	HP:0001920	Renal artery stenosis
OMIM:171300	RET	5979	HP:0002666	Pheochromocytoma
OMIM:171300	RET	5979	HP:0003072	Hypercalcemia
OMIM:171300	RET	5979	HP:0003574	Positive regitine blocking test
OMIM:171300	RET	5979	HP:0000875	Episodic hypertension
OMIM:171300	RET	5979	HP:0003345	Elevated urinary norepinephrine
OMIM:171300	RET	5979	HP:0000093	Proteinuria
OMIM:171300	RET	5979	HP:0000519	Congenital cataract
OMIM:171300	RET	5979	HP:0000957	Cafe-au-lait spot
OMIM:212350	AGK	55750	HP:0001290	Generalized hypotonia
OMIM:212350	AGK	55750	HP:0000639	Nystagmus
OMIM:212350	AGK	55750	HP:0003546	Exercise intolerance
OMIM:212350	AGK	55750	HP:0003828	Variable expressivity
OMIM:212350	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:212350	AGK	55750	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212350	AGK	55750	HP:0002093	Respiratory insufficiency
OMIM:212350	AGK	55750	HP:0000545	Myopia
OMIM:212350	AGK	55750	HP:0001324	Muscle weakness
OMIM:212350	AGK	55750	HP:0001270	Motor delay
OMIM:212350	AGK	55750	HP:0003737	Mitochondrial myopathy
OMIM:212350	AGK	55750	HP:0003535	3-Methylglutaconic aciduria
OMIM:212350	AGK	55750	HP:0000486	Strabismus
OMIM:212350	AGK	55750	HP:0001510	Growth delay
OMIM:212350	AGK	55750	HP:0000519	Congenital cataract
OMIM:212350	AGK	55750	HP:0004901	Exercise-induced lactic acidemia
OMIM:212350	AGK	55750	HP:0012378	Fatigue
OMIM:212350	AGK	55750	HP:0000501	Glaucoma
OMIM:212350	AGK	55750	HP:0003593	Infantile onset
OMIM:212350	AGK	55750	HP:0002151	Increased serum lactate
OMIM:212350	AGK	55750	HP:0003198	Myopathy
OMIM:212350	AGK	55750	HP:0003388	Easy fatigability
OMIM:601186	STRA6	64220	HP:0004322	Short stature
OMIM:601186	STRA6	64220	HP:0004935	Pulmonary artery atresia
OMIM:601186	STRA6	64220	HP:0000125	Pelvic kidney
OMIM:601186	STRA6	64220	HP:0001750	Single ventricle
OMIM:601186	STRA6	64220	HP:0000028	Cryptorchidism
OMIM:601186	STRA6	64220	HP:0005156	Hypoplastic left atrium
OMIM:601186	STRA6	64220	HP:0002089	Pulmonary hypoplasia
OMIM:601186	STRA6	64220	HP:0001511	Intrauterine growth retardation
OMIM:601186	STRA6	64220	HP:0002187	Intellectual disability, profound
OMIM:601186	STRA6	64220	HP:0000089	Renal hypoplasia
OMIM:601186	STRA6	64220	HP:0006270	Hypoplastic spleen
OMIM:601186	STRA6	64220	HP:0001680	Coarctation of aorta
OMIM:601186	STRA6	64220	HP:0000126	Hydronephrosis
OMIM:601186	STRA6	64220	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	STRA6	64220	HP:0000431	Wide nasal bridge
OMIM:601186	STRA6	64220	HP:0001636	Tetralogy of Fallot
OMIM:601186	STRA6	64220	HP:0004712	Renal malrotation
OMIM:601186	STRA6	64220	HP:0005944	Bilateral lung agenesis
OMIM:601186	STRA6	64220	HP:0000581	Blepharophimosis
OMIM:601186	STRA6	64220	HP:0000813	Bicornuate uterus
OMIM:601186	STRA6	64220	HP:0001631	Atrial septal defect
OMIM:601186	STRA6	64220	HP:0000085	Horseshoe kidney
OMIM:601186	STRA6	64220	HP:0001642	Pulmonic stenosis
OMIM:601186	STRA6	64220	HP:0001643	Patent ductus arteriosus
OMIM:601186	STRA6	64220	HP:0000023	Inguinal hernia
OMIM:601186	STRA6	64220	HP:0000007	Autosomal recessive inheritance
OMIM:601186	STRA6	64220	HP:0009110	Diaphragmatic eventration
OMIM:601186	STRA6	64220	HP:0000347	Micrognathia
OMIM:601186	STRA6	64220	HP:0001290	Generalized hypotonia
OMIM:601186	STRA6	64220	HP:0005311	Agenesis of pulmonary vessels
OMIM:601186	STRA6	64220	HP:0001629	Ventricular septal defect
OMIM:601186	STRA6	64220	HP:0000528	Anophthalmia
OMIM:601186	STRA6	64220	HP:0002093	Respiratory insufficiency
OMIM:601186	STRA6	64220	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	STRA6	64220	HP:0007633	Bilateral microphthalmos
OMIM:601186	STRA6	64220	HP:0000013	Hypoplasia of the uterus
ORPHA:75563	ALAS2	212	HP:0000980	Pallor
ORPHA:75563	ALAS2	212	HP:0012378	Fatigue
ORPHA:75563	ALAS2	212	HP:0011031	Abnormality of iron homeostasis
ORPHA:75563	ALAS2	212	HP:0001324	Muscle weakness
ORPHA:75563	ALAS2	212	HP:0001903	Anemia
OMIM:616954	TELO2	9894	HP:0001344	Absent speech
OMIM:616954	TELO2	9894	HP:0000007	Autosomal recessive inheritance
OMIM:616954	TELO2	9894	HP:0000365	Hearing impairment
OMIM:616954	TELO2	9894	HP:0001251	Ataxia
OMIM:616954	TELO2	9894	HP:0003577	Congenital onset
OMIM:616954	TELO2	9894	HP:0000767	Pectus excavatum
OMIM:616954	TELO2	9894	HP:0001263	Global developmental delay
OMIM:616954	TELO2	9894	HP:0100022	Abnormality of movement
OMIM:616954	TELO2	9894	HP:0001257	Spasticity
OMIM:616954	TELO2	9894	HP:0001290	Generalized hypotonia
OMIM:616954	TELO2	9894	HP:0000252	Microcephaly
OMIM:616954	TELO2	9894	HP:0002751	Kyphoscoliosis
OMIM:611755	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:611755	CEP290	80184	HP:0000505	Visual impairment
OMIM:611755	CEP290	80184	HP:0004409	Hyposmia
OMIM:300424	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300424	OFD1	8481	HP:0000551	Abnormality of color vision
OMIM:300424	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:153670	GP1BA	2811	HP:0000967	Petechiae
OMIM:153670	GP1BA	2811	HP:0004446	Stomatocytosis
OMIM:153670	GP1BA	2811	HP:0000132	Menorrhagia
OMIM:153670	GP1BA	2811	HP:0000006	Autosomal dominant inheritance
OMIM:153670	GP1BA	2811	HP:0006298	Prolonged bleeding after dental extraction
OMIM:153670	GP1BA	2811	HP:0000225	Gingival bleeding
OMIM:153670	GP1BA	2811	HP:0000421	Epistaxis
OMIM:153670	GP1BA	2811	HP:0001744	Splenomegaly
OMIM:153670	GP1BA	2811	HP:0000978	Bruising susceptibility
OMIM:153670	GP1BA	2811	HP:0011877	Increased mean platelet volume
OMIM:153670	GP1BA	2811	HP:0001878	Hemolytic anemia
ORPHA:99798	IRF6	3664	HP:0000691	Microdontia
ORPHA:99798	IRF6	3664	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	IRF6	3664	HP:0000677	Oligodontia
ORPHA:99798	IRF6	3664	HP:0000347	Micrognathia
ORPHA:99798	EDARADD	128178	HP:0000691	Microdontia
ORPHA:99798	EDARADD	128178	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	EDARADD	128178	HP:0000677	Oligodontia
ORPHA:99798	EDARADD	128178	HP:0000347	Micrognathia
ORPHA:99798	FGFR1	2260	HP:0000691	Microdontia
ORPHA:99798	FGFR1	2260	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	FGFR1	2260	HP:0000677	Oligodontia
ORPHA:99798	FGFR1	2260	HP:0000347	Micrognathia
ORPHA:99798	WNT10A	80326	HP:0000691	Microdontia
ORPHA:99798	WNT10A	80326	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	WNT10A	80326	HP:0000677	Oligodontia
ORPHA:99798	WNT10A	80326	HP:0000347	Micrognathia
ORPHA:99798	MSX1	4487	HP:0000691	Microdontia
ORPHA:99798	MSX1	4487	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	MSX1	4487	HP:0000677	Oligodontia
ORPHA:99798	MSX1	4487	HP:0000347	Micrognathia
ORPHA:99798	EDA	1896	HP:0000691	Microdontia
ORPHA:99798	EDA	1896	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	EDA	1896	HP:0000677	Oligodontia
ORPHA:99798	EDA	1896	HP:0000347	Micrognathia
ORPHA:99798	LRP6	4040	HP:0000691	Microdontia
ORPHA:99798	LRP6	4040	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	LRP6	4040	HP:0000677	Oligodontia
ORPHA:99798	LRP6	4040	HP:0000347	Micrognathia
ORPHA:99798	WNT10B	7480	HP:0000691	Microdontia
ORPHA:99798	WNT10B	7480	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	WNT10B	7480	HP:0000677	Oligodontia
ORPHA:99798	WNT10B	7480	HP:0000347	Micrognathia
ORPHA:99798	AXIN2	8313	HP:0000691	Microdontia
ORPHA:99798	AXIN2	8313	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	AXIN2	8313	HP:0000677	Oligodontia
ORPHA:99798	AXIN2	8313	HP:0000347	Micrognathia
ORPHA:99798	PAX9	5083	HP:0000691	Microdontia
ORPHA:99798	PAX9	5083	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	PAX9	5083	HP:0000677	Oligodontia
ORPHA:99798	PAX9	5083	HP:0000347	Micrognathia
ORPHA:99798	SUMO1	7341	HP:0000691	Microdontia
ORPHA:99798	SUMO1	7341	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	SUMO1	7341	HP:0000677	Oligodontia
ORPHA:99798	SUMO1	7341	HP:0000347	Micrognathia
ORPHA:99798	TGFA	7039	HP:0000691	Microdontia
ORPHA:99798	TGFA	7039	HP:0000327	Hypoplasia of the maxilla
ORPHA:99798	TGFA	7039	HP:0000677	Oligodontia
ORPHA:99798	TGFA	7039	HP:0000347	Micrognathia
OMIM:303600	RPS6KA3	6197	HP:0002673	Coxa valga
OMIM:303600	RPS6KA3	6197	HP:0000336	Prominent supraorbital ridges
OMIM:303600	RPS6KA3	6197	HP:0001812	Hyperconvex fingernails
OMIM:303600	RPS6KA3	6197	HP:0000189	Narrow palate
OMIM:303600	RPS6KA3	6197	HP:0000463	Anteverted nares
OMIM:303600	RPS6KA3	6197	HP:0002553	Highly arched eyebrow
OMIM:303600	RPS6KA3	6197	HP:0000232	Everted lower lip vermilion
OMIM:303600	RPS6KA3	6197	HP:0000687	Widely spaced teeth
OMIM:303600	RPS6KA3	6197	HP:0000407	Sensorineural hearing impairment
OMIM:303600	RPS6KA3	6197	HP:0000954	Single transverse palmar crease
OMIM:303600	RPS6KA3	6197	HP:0001423	X-linked dominant inheritance
OMIM:303600	RPS6KA3	6197	HP:0010309	Bifid sternum
OMIM:303600	RPS6KA3	6197	HP:0006129	Drumstick terminal phalanges
OMIM:303600	RPS6KA3	6197	HP:0002650	Scoliosis
OMIM:303600	RPS6KA3	6197	HP:0000574	Thick eyebrow
OMIM:303600	RPS6KA3	6197	HP:0009746	Thick nasal septum
OMIM:303600	RPS6KA3	6197	HP:0002684	Thickened calvaria
OMIM:303600	RPS6KA3	6197	HP:0000280	Coarse facial features
OMIM:303600	RPS6KA3	6197	HP:0010049	Short metacarpal
OMIM:303600	RPS6KA3	6197	HP:0004322	Short stature
OMIM:303600	RPS6KA3	6197	HP:0000023	Inguinal hernia
OMIM:303600	RPS6KA3	6197	HP:0002868	Narrow iliac wings
OMIM:303600	RPS6KA3	6197	HP:0000494	Downslanted palpebral fissures
OMIM:303600	RPS6KA3	6197	HP:0000965	Cutis marmorata
OMIM:303600	RPS6KA3	6197	HP:0001187	Hyperextensibility of the finger joints
OMIM:303600	RPS6KA3	6197	HP:0001290	Generalized hypotonia
OMIM:303600	RPS6KA3	6197	HP:0002208	Coarse hair
OMIM:303600	RPS6KA3	6197	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:303600	RPS6KA3	6197	HP:0008454	Lumbar kyphosis
OMIM:303600	RPS6KA3	6197	HP:0001182	Tapered finger
OMIM:303600	RPS6KA3	6197	HP:0001653	Mitral regurgitation
OMIM:303600	RPS6KA3	6197	HP:0002750	Delayed skeletal maturation
OMIM:303600	RPS6KA3	6197	HP:0002035	Rectal prolapse
OMIM:303600	RPS6KA3	6197	HP:0003745	Sporadic
OMIM:303600	RPS6KA3	6197	HP:0000767	Pectus excavatum
OMIM:303600	RPS6KA3	6197	HP:0000506	Telecanthus
OMIM:303600	RPS6KA3	6197	HP:0000194	Open mouth
OMIM:303600	RPS6KA3	6197	HP:0002808	Kyphosis
OMIM:303600	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:303600	RPS6KA3	6197	HP:0000316	Hypertelorism
OMIM:303600	RPS6KA3	6197	HP:0002119	Ventriculomegaly
OMIM:303600	RPS6KA3	6197	HP:0000139	Uterine prolapse
OMIM:303600	RPS6KA3	6197	HP:0000445	Wide nose
OMIM:303600	RPS6KA3	6197	HP:0000252	Microcephaly
OMIM:303600	RPS6KA3	6197	HP:0001169	Broad palm
OMIM:303600	RPS6KA3	6197	HP:0000303	Mandibular prognathia
OMIM:303600	RPS6KA3	6197	HP:0000689	Dental malocclusion
OMIM:303600	RPS6KA3	6197	HP:0000973	Cutis laxa
OMIM:303600	RPS6KA3	6197	HP:0000218	High palate
OMIM:303600	RPS6KA3	6197	HP:0001763	Pes planus
OMIM:303600	RPS6KA3	6197	HP:0001250	Seizures
OMIM:303600	RPS6KA3	6197	HP:0004325	Decreased body weight
OMIM:303600	RPS6KA3	6197	HP:0000411	Protruding ear
OMIM:303600	RPS6KA3	6197	HP:0000668	Hypodontia
OMIM:303600	RPS6KA3	6197	HP:0000768	Pectus carinatum
OMIM:616749	MMP21	118856	HP:0001748	Polysplenia
OMIM:616749	MMP21	118856	HP:0006695	Atrioventricular canal defect
OMIM:616749	MMP21	118856	HP:0000007	Autosomal recessive inheritance
OMIM:616749	MMP21	118856	HP:0004935	Pulmonary artery atresia
OMIM:616749	MMP21	118856	HP:0004762	Hypoplasia of right ventricle
OMIM:616749	MMP21	118856	HP:0002566	Intestinal malrotation
OMIM:616749	MMP21	118856	HP:0001631	Atrial septal defect
OMIM:616749	MMP21	118856	HP:0011671	Interrupted inferior vena cava with azygous continuation
OMIM:616749	MMP21	118856	HP:0005160	Total anomalous pulmonary venous return
OMIM:616749	MMP21	118856	HP:0001696	Situs inversus totalis
OMIM:616749	MMP21	118856	HP:0011611	Interrupted aortic arch
OMIM:616749	MMP21	118856	HP:0030853	Heterotaxy
OMIM:616749	MMP21	118856	HP:0011565	Common atrium
OMIM:236730	HPSE2	60495	HP:0000028	Cryptorchidism
OMIM:236730	HPSE2	60495	HP:0000010	Recurrent urinary tract infections
OMIM:236730	HPSE2	60495	HP:0000007	Autosomal recessive inheritance
OMIM:236730	HPSE2	60495	HP:0000126	Hydronephrosis
OMIM:236730	HPSE2	60495	HP:0010481	Urethral valve
OMIM:236730	HPSE2	60495	HP:0001999	Abnormal facial shape
OMIM:236730	HPSE2	60495	HP:0005346	Abnormal facial expression
OMIM:236730	HPSE2	60495	HP:0000805	Enuresis
OMIM:236730	HPSE2	60495	HP:0000072	Hydroureter
OMIM:236730	HPSE2	60495	HP:0002019	Constipation
OMIM:616211	WWOX	51741	HP:0001257	Spasticity
OMIM:616211	WWOX	51741	HP:0001347	Hyperreflexia
OMIM:616211	WWOX	51741	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	WWOX	51741	HP:0003828	Variable expressivity
OMIM:616211	WWOX	51741	HP:0002375	Hypokinesia
OMIM:616211	WWOX	51741	HP:0000252	Microcephaly
OMIM:616211	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:616211	WWOX	51741	HP:0001263	Global developmental delay
OMIM:616211	WWOX	51741	HP:0001250	Seizures
OMIM:616211	WWOX	51741	HP:0000007	Autosomal recessive inheritance
OMIM:616211	WWOX	51741	HP:0002063	Rigidity
OMIM:616211	WWOX	51741	HP:0000253	Progressive microcephaly
OMIM:609322	SMARCB1	6598	HP:0002885	Medulloblastoma
OMIM:609322	SMARCB1	6598	HP:0030392	Choroid plexus carcinoma
OMIM:609322	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
ORPHA:906	WIPF1	7456	HP:0001328	Specific learning disability
ORPHA:906	WIPF1	7456	HP:0002028	Chronic diarrhea
ORPHA:906	WIPF1	7456	HP:0012378	Fatigue
ORPHA:906	WIPF1	7456	HP:0001873	Thrombocytopenia
ORPHA:906	WIPF1	7456	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:906	WIPF1	7456	HP:0000246	Sinusitis
ORPHA:906	WIPF1	7456	HP:0002573	Hematochezia
ORPHA:906	WIPF1	7456	HP:0002248	Hematemesis
ORPHA:906	WIPF1	7456	HP:0002960	Autoimmunity
ORPHA:906	WIPF1	7456	HP:0000978	Bruising susceptibility
ORPHA:906	WIPF1	7456	HP:0002094	Dyspnea
ORPHA:906	WIPF1	7456	HP:0001945	Fever
ORPHA:906	WIPF1	7456	HP:0000967	Petechiae
ORPHA:906	WIPF1	7456	HP:0000389	Chronic otitis media
ORPHA:906	WIPF1	7456	HP:0002721	Immunodeficiency
ORPHA:906	WIPF1	7456	HP:0003010	Prolonged bleeding time
ORPHA:906	WIPF1	7456	HP:0002205	Recurrent respiratory infections
ORPHA:906	WIPF1	7456	HP:0001888	Lymphopenia
ORPHA:906	WIPF1	7456	HP:0001879	Abnormality of eosinophils
ORPHA:906	WIPF1	7456	HP:0001935	Microcytic anemia
ORPHA:906	WIPF1	7456	HP:0001878	Hemolytic anemia
ORPHA:906	WIPF1	7456	HP:0007420	Spontaneous hematomas
ORPHA:906	WIPF1	7456	HP:0011875	Abnormal platelet morphology
ORPHA:906	WIPF1	7456	HP:0002037	Inflammation of the large intestine
ORPHA:906	WAS	7454	HP:0001328	Specific learning disability
ORPHA:906	WAS	7454	HP:0002028	Chronic diarrhea
ORPHA:906	WAS	7454	HP:0012378	Fatigue
ORPHA:906	WAS	7454	HP:0001873	Thrombocytopenia
ORPHA:906	WAS	7454	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:906	WAS	7454	HP:0000246	Sinusitis
ORPHA:906	WAS	7454	HP:0002573	Hematochezia
ORPHA:906	WAS	7454	HP:0002248	Hematemesis
ORPHA:906	WAS	7454	HP:0002960	Autoimmunity
ORPHA:906	WAS	7454	HP:0000978	Bruising susceptibility
ORPHA:906	WAS	7454	HP:0002094	Dyspnea
ORPHA:906	WAS	7454	HP:0001945	Fever
ORPHA:906	WAS	7454	HP:0000967	Petechiae
ORPHA:906	WAS	7454	HP:0000389	Chronic otitis media
ORPHA:906	WAS	7454	HP:0002721	Immunodeficiency
ORPHA:906	WAS	7454	HP:0003010	Prolonged bleeding time
ORPHA:906	WAS	7454	HP:0002205	Recurrent respiratory infections
ORPHA:906	WAS	7454	HP:0001888	Lymphopenia
ORPHA:906	WAS	7454	HP:0001879	Abnormality of eosinophils
ORPHA:906	WAS	7454	HP:0001935	Microcytic anemia
ORPHA:906	WAS	7454	HP:0001878	Hemolytic anemia
ORPHA:906	WAS	7454	HP:0007420	Spontaneous hematomas
ORPHA:906	WAS	7454	HP:0011875	Abnormal platelet morphology
ORPHA:906	WAS	7454	HP:0002037	Inflammation of the large intestine
OMIM:616471	COL12A1	1303	HP:0003198	Myopathy
OMIM:616471	COL12A1	1303	HP:0001371	Flexion contracture
OMIM:616471	COL12A1	1303	HP:0001270	Motor delay
OMIM:616471	COL12A1	1303	HP:0001324	Muscle weakness
OMIM:616471	COL12A1	1303	HP:0002808	Kyphosis
OMIM:616471	COL12A1	1303	HP:0001252	Muscular hypotonia
OMIM:606159	FTL	2512	HP:0001260	Dysarthria
OMIM:606159	FTL	2512	HP:0001347	Hyperreflexia
OMIM:606159	FTL	2512	HP:0001300	Parkinsonism
OMIM:606159	FTL	2512	HP:0001337	Tremor
OMIM:606159	FTL	2512	HP:0012343	Decreased serum ferritin
OMIM:606159	FTL	2512	HP:0002180	Neurodegeneration
OMIM:606159	FTL	2512	HP:0000712	Emotional lability
OMIM:606159	FTL	2512	HP:0000726	Dementia
OMIM:606159	FTL	2512	HP:0002356	Writer's cramp
OMIM:606159	FTL	2512	HP:0003487	Babinski sign
OMIM:606159	FTL	2512	HP:0001266	Choreoathetosis
OMIM:606159	FTL	2512	HP:0001251	Ataxia
OMIM:606159	FTL	2512	HP:0003676	Progressive
OMIM:606159	FTL	2512	HP:0000643	Blepharospasm
OMIM:606159	FTL	2512	HP:0003812	Phenotypic variability
OMIM:606159	FTL	2512	HP:0002300	Mutism
OMIM:606159	FTL	2512	HP:0002063	Rigidity
OMIM:606159	FTL	2512	HP:0007007	Cavitation of the basal ganglia
OMIM:606159	FTL	2512	HP:0000338	Hypomimic face
OMIM:606159	FTL	2512	HP:0001257	Spasticity
OMIM:606159	FTL	2512	HP:0012049	Laryngeal dystonia
OMIM:606159	FTL	2512	HP:0002015	Dysphagia
OMIM:606159	FTL	2512	HP:0002067	Bradykinesia
OMIM:606159	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:606159	FTL	2512	HP:0000734	Disinhibition
OMIM:606159	FTL	2512	HP:0002425	Anarthria
OMIM:606685	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:606685	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:606685	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:615605	EHHADH	1962	HP:0003828	Variable expressivity
OMIM:615605	EHHADH	1962	HP:0001942	Metabolic acidosis
OMIM:615605	EHHADH	1962	HP:0002748	Rickets
OMIM:615605	EHHADH	1962	HP:0002979	Bowing of the legs
OMIM:615605	EHHADH	1962	HP:0003355	Aminoaciduria
OMIM:615605	EHHADH	1962	HP:0003076	Glycosuria
OMIM:615605	EHHADH	1962	HP:0000006	Autosomal dominant inheritance
OMIM:615605	EHHADH	1962	HP:0004322	Short stature
OMIM:615605	EHHADH	1962	HP:0003109	Hyperphosphaturia
OMIM:615605	EHHADH	1962	HP:0000093	Proteinuria
ORPHA:79399	KRT14	3861	HP:0000982	Palmoplantar keratoderma
ORPHA:79399	KRT14	3861	HP:0008066	Abnormal blistering of the skin
ORPHA:79399	KRT14	3861	HP:0000682	Abnormality of dental enamel
ORPHA:79399	KRT14	3861	HP:0001933	Subcutaneous hemorrhage
ORPHA:79399	KRT14	3861	HP:0000597	Ophthalmoparesis
ORPHA:79399	KRT14	3861	HP:0001597	Abnormality of the nail
ORPHA:79399	KRT14	3861	HP:0000508	Ptosis
ORPHA:79399	KRT14	3861	HP:0002793	Abnormal pattern of respiration
ORPHA:79399	KRT14	3861	HP:0005595	Generalized hyperkeratosis
ORPHA:79399	KRT14	3861	HP:0002745	Oral leukoplakia
ORPHA:79399	KRT14	3861	HP:0000975	Hyperhidrosis
ORPHA:79399	KRT14	3861	HP:0001056	Milia
ORPHA:79399	KRT5	3852	HP:0000982	Palmoplantar keratoderma
ORPHA:79399	KRT5	3852	HP:0008066	Abnormal blistering of the skin
ORPHA:79399	KRT5	3852	HP:0000682	Abnormality of dental enamel
ORPHA:79399	KRT5	3852	HP:0001933	Subcutaneous hemorrhage
ORPHA:79399	KRT5	3852	HP:0000597	Ophthalmoparesis
ORPHA:79399	KRT5	3852	HP:0001597	Abnormality of the nail
ORPHA:79399	KRT5	3852	HP:0000508	Ptosis
ORPHA:79399	KRT5	3852	HP:0002793	Abnormal pattern of respiration
ORPHA:79399	KRT5	3852	HP:0005595	Generalized hyperkeratosis
ORPHA:79399	KRT5	3852	HP:0002745	Oral leukoplakia
ORPHA:79399	KRT5	3852	HP:0000975	Hyperhidrosis
ORPHA:79399	KRT5	3852	HP:0001056	Milia
ORPHA:778	MECP2	4204	HP:0001332	Dystonia
ORPHA:778	MECP2	4204	HP:0002120	Cerebral cortical atrophy
ORPHA:778	MECP2	4204	HP:0000717	Autism
ORPHA:778	MECP2	4204	HP:0004322	Short stature
ORPHA:778	MECP2	4204	HP:0002353	EEG abnormality
ORPHA:778	MECP2	4204	HP:0002186	Apraxia
ORPHA:778	MECP2	4204	HP:0010864	Intellectual disability, severe
ORPHA:778	MECP2	4204	HP:0000164	Abnormality of the dentition
ORPHA:778	MECP2	4204	HP:0000716	Depressivity
ORPHA:778	MECP2	4204	HP:0000252	Microcephaly
ORPHA:778	MECP2	4204	HP:0001251	Ataxia
ORPHA:778	MECP2	4204	HP:0000733	Stereotypy
ORPHA:778	MECP2	4204	HP:0001250	Seizures
ORPHA:778	MECP2	4204	HP:0002357	Dysphasia
ORPHA:778	MECP2	4204	HP:0001163	Abnormality of the metacarpal bones
ORPHA:778	MECP2	4204	HP:0002650	Scoliosis
ORPHA:778	MECP2	4204	HP:0001257	Spasticity
ORPHA:778	MECP2	4204	HP:0002093	Respiratory insufficiency
OMIM:605724	BRCA2	675	HP:0004322	Short stature
OMIM:605724	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:605724	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:605724	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:154400	SF3B4	10262	HP:0000426	Prominent nasal bridge
OMIM:154400	SF3B4	10262	HP:0000384	Preauricular skin tag
OMIM:154400	SF3B4	10262	HP:0000405	Conductive hearing impairment
OMIM:154400	SF3B4	10262	HP:0001822	Hallux valgus
OMIM:154400	SF3B4	10262	HP:0000211	Trismus
OMIM:154400	SF3B4	10262	HP:0002984	Hypoplasia of the radius
OMIM:154400	SF3B4	10262	HP:0000175	Cleft palate
OMIM:154400	SF3B4	10262	HP:0001831	Short toe
OMIM:154400	SF3B4	10262	HP:0001543	Gastroschisis
OMIM:154400	SF3B4	10262	HP:0002650	Scoliosis
OMIM:154400	SF3B4	10262	HP:0011800	Midface retrusion
OMIM:154400	SF3B4	10262	HP:0001762	Talipes equinovarus
OMIM:154400	SF3B4	10262	HP:0000006	Autosomal dominant inheritance
OMIM:154400	SF3B4	10262	HP:0009466	Radial deviation of finger
OMIM:154400	SF3B4	10262	HP:0000220	Velopharyngeal insufficiency
OMIM:154400	SF3B4	10262	HP:0002410	Aqueductal stenosis
OMIM:154400	SF3B4	10262	HP:0000272	Malar flattening
OMIM:154400	SF3B4	10262	HP:0000347	Micrognathia
OMIM:154400	SF3B4	10262	HP:0001622	Premature birth
OMIM:154400	SF3B4	10262	HP:0000652	Lower eyelid coloboma
OMIM:154400	SF3B4	10262	HP:0001849	Foot oligodactyly
OMIM:154400	SF3B4	10262	HP:0000413	Atresia of the external auditory canal
OMIM:154400	SF3B4	10262	HP:0002974	Radioulnar synostosis
OMIM:154400	SF3B4	10262	HP:0002827	Hip dislocation
OMIM:154400	SF3B4	10262	HP:0004322	Short stature
OMIM:154400	SF3B4	10262	HP:0005349	Hypoplasia of the epiglottis
OMIM:154400	SF3B4	10262	HP:0000252	Microcephaly
OMIM:154400	SF3B4	10262	HP:0009777	Absent thumb
OMIM:154400	SF3B4	10262	HP:0010055	Broad hallux
OMIM:154400	SF3B4	10262	HP:0000813	Bicornuate uterus
OMIM:154400	SF3B4	10262	HP:0003974	Absent radius
OMIM:154400	SF3B4	10262	HP:0001025	Urticaria
OMIM:154400	SF3B4	10262	HP:0000750	Delayed speech and language development
OMIM:154400	SF3B4	10262	HP:0002251	Aganglionic megacolon
OMIM:154400	SF3B4	10262	HP:0001636	Tetralogy of Fallot
OMIM:154400	SF3B4	10262	HP:0008749	Laryngeal hypoplasia
OMIM:154400	SF3B4	10262	HP:0000369	Low-set ears
OMIM:154400	SF3B4	10262	HP:0001377	Limited elbow extension
OMIM:154400	SF3B4	10262	HP:0000122	Unilateral renal agenesis
OMIM:154400	SF3B4	10262	HP:0001199	Triphalangeal thumb
OMIM:154400	SF3B4	10262	HP:0001770	Toe syndactyly
OMIM:154400	SF3B4	10262	HP:0001845	Overlapping toe
OMIM:154400	SF3B4	10262	HP:0000278	Retrognathia
OMIM:154400	SF3B4	10262	HP:0003319	Abnormality of the cervical spine
OMIM:154400	SF3B4	10262	HP:0000358	Posteriorly rotated ears
OMIM:154400	SF3B4	10262	HP:0003828	Variable expressivity
OMIM:154400	SF3B4	10262	HP:0007776	Sparse lower eyelashes
OMIM:154400	SF3B4	10262	HP:0000238	Hydrocephalus
OMIM:154400	SF3B4	10262	HP:0030084	Clinodactyly
OMIM:154400	SF3B4	10262	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:154400	SF3B4	10262	HP:0002126	Polymicrogyria
OMIM:154400	SF3B4	10262	HP:0006657	Hypoplasia of first ribs
OMIM:154400	SF3B4	10262	HP:0000204	Cleft upper lip
OMIM:154400	SF3B4	10262	HP:0000494	Downslanted palpebral fissures
OMIM:154400	SF3B4	10262	HP:0000154	Wide mouth
OMIM:225500	EVC2	132884	HP:0000007	Autosomal recessive inheritance
OMIM:225500	EVC2	132884	HP:0000695	Natal tooth
OMIM:225500	EVC2	132884	HP:0001305	Dandy-Walker malformation
OMIM:225500	EVC2	132884	HP:0000204	Cleft upper lip
OMIM:225500	EVC2	132884	HP:0000028	Cryptorchidism
OMIM:225500	EVC2	132884	HP:0001762	Talipes equinovarus
OMIM:225500	EVC2	132884	HP:0000968	Ectodermal dysplasia
OMIM:225500	EVC2	132884	HP:0000768	Pectus carinatum
OMIM:225500	EVC2	132884	HP:0001241	Capitate-hamate fusion
OMIM:225500	EVC2	132884	HP:0002866	Hypoplastic iliac wing
OMIM:225500	EVC2	132884	HP:0000039	Epispadias
OMIM:225500	EVC2	132884	HP:0008921	Neonatal short-limb short stature
OMIM:225500	EVC2	132884	HP:0001830	Postaxial foot polydactyly
OMIM:225500	EVC2	132884	HP:0000774	Narrow chest
OMIM:225500	EVC2	132884	HP:0002164	Nail dysplasia
OMIM:225500	EVC2	132884	HP:0002857	Genu valgum
OMIM:225500	EVC2	132884	HP:0011565	Common atrium
OMIM:225500	EVC2	132884	HP:0001162	Postaxial hand polydactyly
OMIM:225500	EVC2	132884	HP:0000684	Delayed eruption of teeth
OMIM:225500	EVC2	132884	HP:0000773	Short ribs
OMIM:225500	EVC2	132884	HP:0000668	Hypodontia
OMIM:225500	EVC2	132884	HP:0006477	Abnormality of the alveolar ridges
OMIM:225500	EVC2	132884	HP:0000047	Hypospadias
OMIM:225500	EVC2	132884	HP:0003026	Short long bone
OMIM:225500	EVC2	132884	HP:0000888	Horizontal ribs
OMIM:225500	EVC2	132884	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5
OMIM:225500	EVC2	132884	HP:0010454	Acetabular spurs
OMIM:225500	EVC2	132884	HP:0001631	Atrial septal defect
OMIM:225500	EVC	2121	HP:0000007	Autosomal recessive inheritance
OMIM:225500	EVC	2121	HP:0000695	Natal tooth
OMIM:225500	EVC	2121	HP:0001305	Dandy-Walker malformation
OMIM:225500	EVC	2121	HP:0000204	Cleft upper lip
OMIM:225500	EVC	2121	HP:0000028	Cryptorchidism
OMIM:225500	EVC	2121	HP:0001762	Talipes equinovarus
OMIM:225500	EVC	2121	HP:0000968	Ectodermal dysplasia
OMIM:225500	EVC	2121	HP:0000768	Pectus carinatum
OMIM:225500	EVC	2121	HP:0001241	Capitate-hamate fusion
OMIM:225500	EVC	2121	HP:0002866	Hypoplastic iliac wing
OMIM:225500	EVC	2121	HP:0000039	Epispadias
OMIM:225500	EVC	2121	HP:0008921	Neonatal short-limb short stature
OMIM:225500	EVC	2121	HP:0001830	Postaxial foot polydactyly
OMIM:225500	EVC	2121	HP:0000774	Narrow chest
OMIM:225500	EVC	2121	HP:0002164	Nail dysplasia
OMIM:225500	EVC	2121	HP:0002857	Genu valgum
OMIM:225500	EVC	2121	HP:0011565	Common atrium
OMIM:225500	EVC	2121	HP:0001162	Postaxial hand polydactyly
OMIM:225500	EVC	2121	HP:0000684	Delayed eruption of teeth
OMIM:225500	EVC	2121	HP:0000773	Short ribs
OMIM:225500	EVC	2121	HP:0000668	Hypodontia
OMIM:225500	EVC	2121	HP:0006477	Abnormality of the alveolar ridges
OMIM:225500	EVC	2121	HP:0000047	Hypospadias
OMIM:225500	EVC	2121	HP:0003026	Short long bone
OMIM:225500	EVC	2121	HP:0000888	Horizontal ribs
OMIM:225500	EVC	2121	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5
OMIM:225500	EVC	2121	HP:0010454	Acetabular spurs
OMIM:225500	EVC	2121	HP:0001631	Atrial septal defect
OMIM:611489	SERPINA6	866	HP:0000006	Autosomal dominant inheritance
OMIM:611489	SERPINA6	866	HP:0003750	Increased muscle fatiguability
OMIM:611489	SERPINA6	866	HP:0000007	Autosomal recessive inheritance
OMIM:611489	SERPINA6	866	HP:0000822	Hypertension
OMIM:611489	SERPINA6	866	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:611489	SERPINA6	866	HP:0002615	Hypotension
OMIM:611489	SERPINA6	866	HP:0003812	Phenotypic variability
OMIM:616449	MED25	81857	HP:0000518	Cataract
OMIM:616449	MED25	81857	HP:0001263	Global developmental delay
OMIM:616449	MED25	81857	HP:0003577	Congenital onset
OMIM:616449	MED25	81857	HP:0010804	Tented upper lip vermilion
OMIM:616449	MED25	81857	HP:0000252	Microcephaly
OMIM:616449	MED25	81857	HP:0000175	Cleft palate
OMIM:616449	MED25	81857	HP:0000316	Hypertelorism
OMIM:616449	MED25	81857	HP:0000494	Downslanted palpebral fissures
OMIM:616449	MED25	81857	HP:0002119	Ventriculomegaly
OMIM:616449	MED25	81857	HP:0000047	Hypospadias
OMIM:616449	MED25	81857	HP:0000232	Everted lower lip vermilion
OMIM:616449	MED25	81857	HP:0000508	Ptosis
OMIM:616449	MED25	81857	HP:0000007	Autosomal recessive inheritance
OMIM:616449	MED25	81857	HP:0001257	Spasticity
OMIM:616449	MED25	81857	HP:0001290	Generalized hypotonia
OMIM:616449	MED25	81857	HP:0000486	Strabismus
OMIM:616449	MED25	81857	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616449	MED25	81857	HP:0008070	Sparse hair
OMIM:616449	MED25	81857	HP:0000322	Short philtrum
OMIM:616449	MED25	81857	HP:0000286	Epicanthus
OMIM:616449	MED25	81857	HP:0000482	Microcornea
OMIM:244450	UBE3B	89910	HP:0000545	Myopia
OMIM:244450	UBE3B	89910	HP:0006511	Laryngeal stridor
OMIM:244450	UBE3B	89910	HP:0000482	Microcornea
OMIM:244450	UBE3B	89910	HP:0000954	Single transverse palmar crease
OMIM:244450	UBE3B	89910	HP:0000384	Preauricular skin tag
OMIM:244450	UBE3B	89910	HP:0003300	Ovoid vertebral bodies
OMIM:244450	UBE3B	89910	HP:0000275	Narrow face
OMIM:244450	UBE3B	89910	HP:0000543	Optic disc pallor
OMIM:244450	UBE3B	89910	HP:0001290	Generalized hypotonia
OMIM:244450	UBE3B	89910	HP:0000581	Blepharophimosis
OMIM:244450	UBE3B	89910	HP:0000286	Epicanthus
OMIM:244450	UBE3B	89910	HP:0000486	Strabismus
OMIM:244450	UBE3B	89910	HP:0004283	Narrow palm
OMIM:244450	UBE3B	89910	HP:0000252	Microcephaly
OMIM:244450	UBE3B	89910	HP:0004209	Clinodactyly of the 5th finger
OMIM:244450	UBE3B	89910	HP:0003196	Short nose
OMIM:244450	UBE3B	89910	HP:0000219	Thin upper lip vermilion
OMIM:244450	UBE3B	89910	HP:0002643	Neonatal respiratory distress
OMIM:244450	UBE3B	89910	HP:0000007	Autosomal recessive inheritance
OMIM:244450	UBE3B	89910	HP:0000347	Micrognathia
OMIM:244450	UBE3B	89910	HP:0000639	Nystagmus
OMIM:244450	UBE3B	89910	HP:0000154	Wide mouth
OMIM:244450	UBE3B	89910	HP:0001840	Metatarsus adductus
OMIM:244450	UBE3B	89910	HP:0008665	Clitoral hypertrophy
OMIM:244450	UBE3B	89910	HP:0000506	Telecanthus
OMIM:244450	UBE3B	89910	HP:0000248	Brachycephaly
OMIM:244450	UBE3B	89910	HP:0000276	Long face
OMIM:244450	UBE3B	89910	HP:0000670	Carious teeth
OMIM:244450	UBE3B	89910	HP:0000699	Diastema
OMIM:244450	UBE3B	89910	HP:0000218	High palate
OMIM:244450	UBE3B	89910	HP:0000508	Ptosis
OMIM:244450	UBE3B	89910	HP:0011302	Long palm
OMIM:244450	UBE3B	89910	HP:0001249	Intellectual disability
OMIM:244450	UBE3B	89910	HP:0001591	Bell-shaped thorax
OMIM:244450	UBE3B	89910	HP:0002019	Constipation
OMIM:244450	UBE3B	89910	HP:0000535	Sparse and thin eyebrow
OMIM:244450	UBE3B	89910	HP:0000582	Upslanted palpebral fissure
OMIM:244450	UBE3B	89910	HP:0000319	Smooth philtrum
OMIM:617116	NPRL2	10641	HP:0003829	Incomplete penetrance
OMIM:617116	NPRL2	10641	HP:0000006	Autosomal dominant inheritance
OMIM:615809	AMPD2	271	HP:0011800	Midface retrusion
OMIM:615809	AMPD2	271	HP:0001250	Seizures
OMIM:615809	AMPD2	271	HP:0000158	Macroglossia
OMIM:615809	AMPD2	271	HP:0000188	Short upper lip
OMIM:615809	AMPD2	271	HP:0002120	Cerebral cortical atrophy
OMIM:615809	AMPD2	271	HP:0000252	Microcephaly
OMIM:615809	AMPD2	271	HP:0000297	Facial hypotonia
OMIM:615809	AMPD2	271	HP:0000648	Optic atrophy
OMIM:615809	AMPD2	271	HP:0002169	Clonus
OMIM:615809	AMPD2	271	HP:0000494	Downslanted palpebral fissures
OMIM:615809	AMPD2	271	HP:0000253	Progressive microcephaly
OMIM:615809	AMPD2	271	HP:0000377	Abnormality of the pinna
OMIM:615809	AMPD2	271	HP:0001263	Global developmental delay
OMIM:615809	AMPD2	271	HP:0000007	Autosomal recessive inheritance
OMIM:615809	AMPD2	271	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615809	AMPD2	271	HP:0001257	Spasticity
OMIM:615809	AMPD2	271	HP:0008936	Muscular hypotonia of the trunk
OMIM:615809	AMPD2	271	HP:0002119	Ventriculomegaly
OMIM:615809	AMPD2	271	HP:0000341	Narrow forehead
OMIM:615809	AMPD2	271	HP:0100704	Cortical visual impairment
OMIM:615809	AMPD2	271	HP:0003477	Peripheral axonal neuropathy
ORPHA:435934	COG2	22796	HP:0001433	Hepatosplenomegaly
ORPHA:435934	COG2	22796	HP:0005484	Postnatal microcephaly
ORPHA:435934	COG2	22796	HP:0012506	Small pituitary gland
ORPHA:435934	COG2	22796	HP:0001263	Global developmental delay
ORPHA:435934	COG2	22796	HP:0010818	Generalized tonic seizures
ORPHA:435934	COG2	22796	HP:0002506	Diffuse cerebral atrophy
ORPHA:435934	COG2	22796	HP:0002510	Spastic tetraplegia
ORPHA:435934	COG2	22796	HP:0010837	Decreased serum ceruloplasmin
ORPHA:435934	COG2	22796	HP:0001410	Decreased liver function
ORPHA:435934	COG2	22796	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:435934	COG2	22796	HP:0011967	Hypocupremia
OMIM:603552	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:603552	STX11	8676	HP:0001945	Fever
OMIM:609622	KCNJ2	3759	HP:0001962	Palpitations
OMIM:609622	KCNJ2	3759	HP:0012232	Shortened QT interval
OMIM:609622	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:609622	KCNJ2	3759	HP:0001649	Tachycardia
OMIM:616415	NTHL1	4913	HP:0009725	Bladder neoplasm
OMIM:616415	NTHL1	4913	HP:0002858	Meningioma
OMIM:616415	NTHL1	4913	HP:0008069	Neoplasm of the skin
OMIM:616415	NTHL1	4913	HP:0003002	Breast carcinoma
OMIM:616415	NTHL1	4913	HP:0000007	Autosomal recessive inheritance
OMIM:613983	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613983	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:177200	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:177200	SCNN1B	6338	HP:0003351	Decreased circulating renin level
OMIM:177200	SCNN1B	6338	HP:0002900	Hypokalemia
OMIM:177200	SCNN1B	6338	HP:0004319	Decreased circulating aldosterone level
OMIM:177200	SCNN1B	6338	HP:0000083	Renal insufficiency
OMIM:177200	SCNN1B	6338	HP:0001949	Hypokalemic alkalosis
OMIM:177200	SCNN1B	6338	HP:0000822	Hypertension
OMIM:177200	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:177200	SCNN1G	6340	HP:0003351	Decreased circulating renin level
OMIM:177200	SCNN1G	6340	HP:0002900	Hypokalemia
OMIM:177200	SCNN1G	6340	HP:0004319	Decreased circulating aldosterone level
OMIM:177200	SCNN1G	6340	HP:0000083	Renal insufficiency
OMIM:177200	SCNN1G	6340	HP:0001949	Hypokalemic alkalosis
OMIM:177200	SCNN1G	6340	HP:0000822	Hypertension
OMIM:606664	GNMT	27232	HP:0002910	Elevated hepatic transaminases
OMIM:606664	GNMT	27232	HP:0000007	Autosomal recessive inheritance
OMIM:606664	GNMT	27232	HP:0002240	Hepatomegaly
OMIM:606664	GNMT	27232	HP:0003235	Hypermethioninemia
OMIM:613616	HOGA1	112817	HP:0003159	Hyperoxaluria
OMIM:613616	HOGA1	112817	HP:0000007	Autosomal recessive inheritance
OMIM:613616	HOGA1	112817	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:615040	TRPA1	8989	HP:0003593	Infantile onset
OMIM:615040	TRPA1	8989	HP:0012531	Pain
OMIM:615040	TRPA1	8989	HP:0000006	Autosomal dominant inheritance
OMIM:616941	TCF3	6929	HP:0010976	B lymphocytopenia
OMIM:616941	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:616941	TCF3	6929	HP:0000006	Autosomal dominant inheritance
OMIM:616941	TCF3	6929	HP:0003593	Infantile onset
ORPHA:157801	BHLHA9	727857	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:157801	BHLHA9	727857	HP:0005048	Synostosis of carpal bones
ORPHA:157801	BHLHA9	727857	HP:0004691	2-3 toe syndactyly
ORPHA:157801	BHLHA9	727857	HP:0009701	Metacarpal synostosis
ORPHA:157801	BHLHA9	727857	HP:0009778	Short thumb
ORPHA:157801	BHLHA9	727857	HP:0010109	Short hallux
ORPHA:157801	BHLHA9	727857	HP:0004209	Clinodactyly of the 5th finger
ORPHA:157801	BHLHA9	727857	HP:0004279	Short palm
ORPHA:157801	BHLHA9	727857	HP:0006101	Finger syndactyly
ORPHA:157801	BHLHA9	727857	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
ORPHA:79301	HSD3B7	80270	HP:0002240	Hepatomegaly
ORPHA:79301	HSD3B7	80270	HP:0001508	Failure to thrive
ORPHA:79301	HSD3B7	80270	HP:0002910	Elevated hepatic transaminases
ORPHA:79301	HSD3B7	80270	HP:0000952	Jaundice
ORPHA:79301	HSD3B7	80270	HP:0001080	Biliary tract abnormality
ORPHA:79301	HSD3B7	80270	HP:0001744	Splenomegaly
ORPHA:79301	HSD3B7	80270	HP:0002239	Gastrointestinal hemorrhage
ORPHA:79301	HSD3B7	80270	HP:0006566	Neonatal cholestatic liver disease
ORPHA:79301	HSD3B7	80270	HP:0001928	Abnormality of coagulation
ORPHA:79301	HSD3B7	80270	HP:0002024	Malabsorption
OMIM:612347	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:612347	KCNE1	3753	HP:0001279	Syncope
OMIM:612347	KCNE1	3753	HP:0008527	Congenital sensorineural hearing impairment
OMIM:612347	KCNE1	3753	HP:0000407	Sensorineural hearing impairment
OMIM:612347	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:612347	KCNE1	3753	HP:0001425	Heterogeneous
OMIM:612347	KCNE1	3753	HP:0000007	Autosomal recessive inheritance
OMIM:612347	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:615135	PPM1K	152926	HP:0008344	Elevated plasma branched chain amino acids
OMIM:610828	PTCH1	5727	HP:0002744	Bilateral cleft lip and palate
OMIM:610828	PTCH1	5727	HP:0003829	Incomplete penetrance
OMIM:610828	PTCH1	5727	HP:0000006	Autosomal dominant inheritance
OMIM:610828	PTCH1	5727	HP:0000601	Hypotelorism
OMIM:610828	PTCH1	5727	HP:0010664	Fusion of the left and right thalami
OMIM:610828	PTCH1	5727	HP:0001274	Agenesis of corpus callosum
OMIM:610828	PTCH1	5727	HP:0000238	Hydrocephalus
OMIM:610828	PTCH1	5727	HP:0000871	Panhypopituitarism
OMIM:610828	PTCH1	5727	HP:0003196	Short nose
OMIM:610828	PTCH1	5727	HP:0010649	Flat nasal alae
OMIM:610828	PTCH1	5727	HP:0011800	Midface retrusion
OMIM:610828	PTCH1	5727	HP:0002507	Semilobar holoprosencephaly
OMIM:610828	PTCH1	5727	HP:0005273	Absent nasal septal cartilage
OMIM:610828	PTCH1	5727	HP:0000612	Iris coloboma
OMIM:610828	PTCH1	5727	HP:0000582	Upslanted palpebral fissure
OMIM:610828	PTCH1	5727	HP:0001250	Seizures
OMIM:610828	PTCH1	5727	HP:0000283	Broad face
OMIM:610828	PTCH1	5727	HP:0007633	Bilateral microphthalmos
OMIM:610828	PTCH1	5727	HP:0000242	Parietal bossing
OMIM:610828	PTCH1	5727	HP:0006315	Single median maxillary incisor
OMIM:610828	PTCH1	5727	HP:0002007	Frontal bossing
OMIM:610828	PTCH1	5727	HP:0001263	Global developmental delay
OMIM:610828	PTCH1	5727	HP:0006988	Alobar holoprosencephaly
OMIM:610828	PTCH1	5727	HP:0000256	Macrocephaly
OMIM:610828	PTCH1	5727	HP:0010650	Hypoplasia of the premaxilla
OMIM:610828	PTCH1	5727	HP:0005469	Flat occiput
OMIM:610828	PTCH1	5727	HP:0000400	Macrotia
OMIM:610828	PTCH1	5727	HP:0004122	Midline defect of the nose
OMIM:610828	PTCH1	5727	HP:0008501	Median cleft lip and palate
OMIM:266140	SPTA1	6708	HP:0004839	Pyropoikilocytosis
OMIM:266140	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:266140	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:266140	SPTA1	6708	HP:0004445	Elliptocytosis
OMIM:266140	SPTA1	6708	HP:0004835	Microspherocytosis
OMIM:300963	CCDC22	28952	HP:0000322	Short philtrum
OMIM:300963	CCDC22	28952	HP:0009882	Short distal phalanx of finger
OMIM:300963	CCDC22	28952	HP:0001263	Global developmental delay
OMIM:300963	CCDC22	28952	HP:0001159	Syndactyly
OMIM:300963	CCDC22	28952	HP:0030084	Clinodactyly
OMIM:300963	CCDC22	28952	HP:0002465	Poor speech
OMIM:300963	CCDC22	28952	HP:0001643	Patent ductus arteriosus
OMIM:300963	CCDC22	28952	HP:0000256	Macrocephaly
OMIM:300963	CCDC22	28952	HP:0000582	Upslanted palpebral fissure
OMIM:300963	CCDC22	28952	HP:0000337	Broad forehead
OMIM:300963	CCDC22	28952	HP:0001321	Cerebellar hypoplasia
OMIM:300963	CCDC22	28952	HP:0002650	Scoliosis
OMIM:300963	CCDC22	28952	HP:0001629	Ventricular septal defect
OMIM:300963	CCDC22	28952	HP:0000316	Hypertelorism
OMIM:300963	CCDC22	28952	HP:0001305	Dandy-Walker malformation
OMIM:300963	CCDC22	28952	HP:0000028	Cryptorchidism
OMIM:300963	CCDC22	28952	HP:0002162	Low posterior hairline
OMIM:300963	CCDC22	28952	HP:0010055	Broad hallux
OMIM:300963	CCDC22	28952	HP:0010808	Protruding tongue
OMIM:300963	CCDC22	28952	HP:0001419	X-linked recessive inheritance
OMIM:300963	CCDC22	28952	HP:0001845	Overlapping toe
OMIM:300963	CCDC22	28952	HP:0012385	Camptodactyly
OMIM:300963	CCDC22	28952	HP:0000475	Broad neck
OMIM:300963	CCDC22	28952	HP:0001290	Generalized hypotonia
OMIM:300963	CCDC22	28952	HP:0001631	Atrial septal defect
ORPHA:247768	WNT4	54361	HP:0000786	Primary amenorrhea
ORPHA:247768	WNT4	54361	HP:0009937	Facial hirsutism
ORPHA:247768	WNT4	54361	HP:0000013	Hypoplasia of the uterus
ORPHA:247768	WNT4	54361	HP:0001513	Obesity
ORPHA:247768	WNT4	54361	HP:0000142	Abnormality of the vagina
ORPHA:247768	WNT4	54361	HP:0009890	High anterior hairline
ORPHA:247768	WNT4	54361	HP:0004322	Short stature
ORPHA:247768	WNT4	54361	HP:0001061	Acne
ORPHA:247768	WNT4	54361	HP:0002292	Frontal balding
ORPHA:247768	WNT4	54361	HP:0030088	Increased serum testosterone level
OMIM:145650	THRB	7068	HP:0002930	Thyroid hormone receptor defect
OMIM:145650	THRB	7068	HP:0000006	Autosomal dominant inheritance
OMIM:145650	THRB	7068	HP:0000836	Hyperthyroidism
OMIM:145650	THRB	7068	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:253200	ARSB	411	HP:0001385	Hip dysplasia
OMIM:253200	ARSB	411	HP:0002318	Cervical myelopathy
OMIM:253200	ARSB	411	HP:0000158	Macroglossia
OMIM:253200	ARSB	411	HP:0003311	Hypoplasia of the odontoid process
OMIM:253200	ARSB	411	HP:0000238	Hydrocephalus
OMIM:253200	ARSB	411	HP:0000501	Glaucoma
OMIM:253200	ARSB	411	HP:0001654	Abnormality of the heart valves
OMIM:253200	ARSB	411	HP:0001007	Hirsutism
OMIM:253200	ARSB	411	HP:0008301	Dermatan sulfate excretion in urine
OMIM:253200	ARSB	411	HP:0000885	Broad ribs
OMIM:253200	ARSB	411	HP:0001744	Splenomegaly
OMIM:253200	ARSB	411	HP:0007759	Opacification of the corneal stroma
OMIM:253200	ARSB	411	HP:0002240	Hepatomegaly
OMIM:253200	ARSB	411	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253200	ARSB	411	HP:0003274	Hypoplastic acetabulae
OMIM:253200	ARSB	411	HP:0000943	Dysostosis multiplex
OMIM:253200	ARSB	411	HP:0002656	Epiphyseal dysplasia
OMIM:253200	ARSB	411	HP:0002866	Hypoplastic iliac wing
OMIM:253200	ARSB	411	HP:0003016	Metaphyseal widening
OMIM:253200	ARSB	411	HP:0001638	Cardiomyopathy
OMIM:253200	ARSB	411	HP:0002857	Genu valgum
OMIM:253200	ARSB	411	HP:0001171	Split hand
OMIM:253200	ARSB	411	HP:0003025	Metaphyseal irregularity
OMIM:253200	ARSB	411	HP:0008432	Anterior wedging of L1
OMIM:253200	ARSB	411	HP:0000256	Macrocephaly
OMIM:253200	ARSB	411	HP:0000365	Hearing impairment
OMIM:253200	ARSB	411	HP:0012185	Constrictive median neuropathy
OMIM:253200	ARSB	411	HP:0005280	Depressed nasal bridge
OMIM:253200	ARSB	411	HP:0002938	Lumbar hyperlordosis
OMIM:253200	ARSB	411	HP:0000023	Inguinal hernia
OMIM:253200	ARSB	411	HP:0001387	Joint stiffness
OMIM:253200	ARSB	411	HP:0001537	Umbilical hernia
OMIM:253200	ARSB	411	HP:0011941	Anterior wedging of L2
OMIM:253200	ARSB	411	HP:0003521	Disproportionate short-trunk short stature
OMIM:253200	ARSB	411	HP:0000884	Prominent sternum
OMIM:253200	ARSB	411	HP:0000007	Autosomal recessive inheritance
OMIM:253200	ARSB	411	HP:0000268	Dolichocephaly
OMIM:253200	ARSB	411	HP:0002869	Flared iliac wings
OMIM:253200	ARSB	411	HP:0000280	Coarse facial features
OMIM:253200	ARSB	411	HP:0003300	Ovoid vertebral bodies
OMIM:617137	MAP3K7	6885	HP:0001642	Pulmonic stenosis
OMIM:617137	MAP3K7	6885	HP:0002650	Scoliosis
OMIM:617137	MAP3K7	6885	HP:0001374	Congenital hip dislocation
OMIM:617137	MAP3K7	6885	HP:0000405	Conductive hearing impairment
OMIM:617137	MAP3K7	6885	HP:0001607	Subglottic stenosis
OMIM:617137	MAP3K7	6885	HP:0001655	Patent foramen ovale
OMIM:617137	MAP3K7	6885	HP:0001762	Talipes equinovarus
OMIM:617137	MAP3K7	6885	HP:0000455	Broad nasal tip
OMIM:617137	MAP3K7	6885	HP:0002002	Deep philtrum
OMIM:617137	MAP3K7	6885	HP:0001647	Bicuspid aortic valve
OMIM:617137	MAP3K7	6885	HP:0012385	Camptodactyly
OMIM:617137	MAP3K7	6885	HP:0000307	Pointed chin
OMIM:617137	MAP3K7	6885	HP:0001643	Patent ductus arteriosus
OMIM:617137	MAP3K7	6885	HP:0010743	Short metatarsal
OMIM:617137	MAP3K7	6885	HP:0009487	Ulnar deviation of the hand
OMIM:617137	MAP3K7	6885	HP:0000316	Hypertelorism
OMIM:617137	MAP3K7	6885	HP:0002777	Tracheal stenosis
OMIM:617137	MAP3K7	6885	HP:0000431	Wide nasal bridge
OMIM:617137	MAP3K7	6885	HP:0000494	Downslanted palpebral fissures
OMIM:617137	MAP3K7	6885	HP:0002949	Fused cervical vertebrae
OMIM:617137	MAP3K7	6885	HP:0000574	Thick eyebrow
OMIM:617137	MAP3K7	6885	HP:0000322	Short philtrum
OMIM:617137	MAP3K7	6885	HP:0003083	Dislocated radial head
OMIM:617137	MAP3K7	6885	HP:0000006	Autosomal dominant inheritance
OMIM:617137	MAP3K7	6885	HP:0010049	Short metacarpal
OMIM:617137	MAP3K7	6885	HP:0000336	Prominent supraorbital ridges
OMIM:617137	MAP3K7	6885	HP:0005280	Depressed nasal bridge
OMIM:617137	MAP3K7	6885	HP:0003273	Hip contracture
ORPHA:1522	GJA1	2697	HP:0000506	Telecanthus
ORPHA:1522	GJA1	2697	HP:0000944	Abnormality of the metaphysis
ORPHA:1522	GJA1	2697	HP:0002652	Skeletal dysplasia
ORPHA:1522	GJA1	2697	HP:0000316	Hypertelorism
ORPHA:1522	GJA1	2697	HP:0011002	Osteopetrosis
ORPHA:1522	GJA1	2697	HP:0000431	Wide nasal bridge
ORPHA:1522	GJA1	2697	HP:0005280	Depressed nasal bridge
ORPHA:1522	GJA1	2697	HP:0004493	Craniofacial hyperostosis
ORPHA:1522	ANKH	56172	HP:0000506	Telecanthus
ORPHA:1522	ANKH	56172	HP:0000944	Abnormality of the metaphysis
ORPHA:1522	ANKH	56172	HP:0002652	Skeletal dysplasia
ORPHA:1522	ANKH	56172	HP:0000316	Hypertelorism
ORPHA:1522	ANKH	56172	HP:0011002	Osteopetrosis
ORPHA:1522	ANKH	56172	HP:0000431	Wide nasal bridge
ORPHA:1522	ANKH	56172	HP:0005280	Depressed nasal bridge
ORPHA:1522	ANKH	56172	HP:0004493	Craniofacial hyperostosis
OMIM:248300	SLURP1	57152	HP:0008064	Ichthyosis
OMIM:248300	SLURP1	57152	HP:0000975	Hyperhidrosis
OMIM:248300	SLURP1	57152	HP:0001808	Fragile nails
OMIM:248300	SLURP1	57152	HP:0007553	Congenital symmetrical palmoplantar keratosis
OMIM:248300	SLURP1	57152	HP:0001156	Brachydactyly
OMIM:248300	SLURP1	57152	HP:0000007	Autosomal recessive inheritance
OMIM:248300	SLURP1	57152	HP:0000153	Abnormality of the mouth
OMIM:248300	SLURP1	57152	HP:0010783	Erythema
OMIM:248300	SLURP1	57152	HP:0003593	Infantile onset
OMIM:613287	AARS	16	HP:0000407	Sensorineural hearing impairment
OMIM:613287	AARS	16	HP:0001761	Pes cavus
OMIM:613287	AARS	16	HP:0003828	Variable expressivity
OMIM:613287	AARS	16	HP:0003431	Decreased motor nerve conduction velocity
OMIM:613287	AARS	16	HP:0003477	Peripheral axonal neuropathy
OMIM:613287	AARS	16	HP:0001284	Areflexia
OMIM:613287	AARS	16	HP:0001765	Hammertoe
OMIM:613287	AARS	16	HP:0002936	Distal sensory impairment
OMIM:613287	AARS	16	HP:0003202	Skeletal muscle atrophy
OMIM:613287	AARS	16	HP:0000006	Autosomal dominant inheritance
OMIM:613287	AARS	16	HP:0002460	Distal muscle weakness
OMIM:613287	AARS	16	HP:0009027	Foot dorsiflexor weakness
ORPHA:562	GNAS	2778	HP:0000826	Precocious puberty
ORPHA:562	GNAS	2778	HP:0007565	Multiple cafe-au-lait spots
ORPHA:562	GNAS	2778	HP:0004349	Reduced bone mineral density
ORPHA:562	GNAS	2778	HP:0002653	Bone pain
ORPHA:562	GNAS	2778	HP:0002757	Recurrent fractures
ORPHA:562	GNAS	2778	HP:0002148	Hypophosphatemia
ORPHA:562	GNAS	2778	HP:0007440	Generalized hyperpigmentation
ORPHA:562	GNAS	2778	HP:0002652	Skeletal dysplasia
OMIM:616920	SMG9	56006	HP:0000179	Thick lower lip vermilion
OMIM:616920	SMG9	56006	HP:0011220	Prominent forehead
OMIM:616920	SMG9	56006	HP:0001561	Polyhydramnios
OMIM:616920	SMG9	56006	HP:0000316	Hypertelorism
OMIM:616920	SMG9	56006	HP:0000007	Autosomal recessive inheritance
OMIM:616920	SMG9	56006	HP:0000269	Prominent occiput
OMIM:616920	SMG9	56006	HP:0001305	Dandy-Walker malformation
OMIM:616920	SMG9	56006	HP:0002059	Cerebral atrophy
OMIM:616920	SMG9	56006	HP:0000463	Anteverted nares
OMIM:616920	SMG9	56006	HP:0410030	Cleft lip
OMIM:616920	SMG9	56006	HP:0000252	Microcephaly
OMIM:616920	SMG9	56006	HP:0000377	Abnormality of the pinna
OMIM:616920	SMG9	56006	HP:0000817	Poor eye contact
OMIM:616920	SMG9	56006	HP:0006801	Hyperactive deep tendon reflexes
OMIM:616920	SMG9	56006	HP:0001188	Hand clenching
OMIM:616920	SMG9	56006	HP:0002705	High, narrow palate
OMIM:616920	SMG9	56006	HP:0008936	Muscular hypotonia of the trunk
OMIM:616920	SMG9	56006	HP:0002188	Delayed CNS myelination
OMIM:616920	SMG9	56006	HP:0000232	Everted lower lip vermilion
OMIM:616920	SMG9	56006	HP:0000369	Low-set ears
OMIM:616920	SMG9	56006	HP:0000431	Wide nasal bridge
OMIM:616920	SMG9	56006	HP:0001263	Global developmental delay
OMIM:616920	SMG9	56006	HP:0001510	Growth delay
OMIM:616920	SMG9	56006	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616920	SMG9	56006	HP:0100490	Camptodactyly of finger
OMIM:616920	SMG9	56006	HP:0011611	Interrupted aortic arch
OMIM:616920	SMG9	56006	HP:0000358	Posteriorly rotated ears
OMIM:616920	SMG9	56006	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:616920	SMG9	56006	HP:0000568	Microphthalmia
OMIM:616920	SMG9	56006	HP:0001290	Generalized hypotonia
OMIM:616920	SMG9	56006	HP:0002020	Gastroesophageal reflux
OMIM:616920	SMG9	56006	HP:0000260	Wide anterior fontanel
OMIM:616920	SMG9	56006	HP:0000341	Narrow forehead
OMIM:616920	SMG9	56006	HP:0005280	Depressed nasal bridge
OMIM:616920	SMG9	56006	HP:0002283	Global brain atrophy
OMIM:616920	SMG9	56006	HP:0001629	Ventricular septal defect
OMIM:616920	SMG9	56006	HP:0000505	Visual impairment
OMIM:616920	SMG9	56006	HP:0005487	Prominent metopic ridge
ORPHA:29073	CCND1	595	HP:0002152	Hyperproteinemia
ORPHA:29073	CCND1	595	HP:0002653	Bone pain
ORPHA:29073	CCND1	595	HP:0012378	Fatigue
ORPHA:29073	CCND1	595	HP:0000938	Osteopenia
ORPHA:29073	CCND1	595	HP:0004313	Decreased antibody level in blood
ORPHA:29073	CCND1	595	HP:0000112	Nephropathy
ORPHA:29073	CCND1	595	HP:0003237	Increased IgG level
ORPHA:29073	CCND1	595	HP:0002756	Pathologic fracture
ORPHA:29073	CCND1	595	HP:0001903	Anemia
ORPHA:29073	CCND1	595	HP:0000100	Nephrotic syndrome
ORPHA:29073	CCND1	595	HP:0003259	Elevated serum creatinine
ORPHA:29073	CCND1	595	HP:0001919	Acute kidney injury
ORPHA:29073	CCND1	595	HP:0003324	Generalized muscle weakness
ORPHA:970	KIF1A	547	HP:0003307	Hyperlordosis
ORPHA:970	KIF1A	547	HP:0002645	Wormian bones
ORPHA:970	KIF1A	547	HP:0003202	Skeletal muscle atrophy
ORPHA:970	KIF1A	547	HP:0001810	Dystrophic toenail
ORPHA:970	KIF1A	547	HP:0004349	Reduced bone mineral density
ORPHA:970	KIF1A	547	HP:0003272	Abnormality of the hip bone
ORPHA:970	KIF1A	547	HP:0000975	Hyperhidrosis
ORPHA:970	KIF1A	547	HP:0003103	Abnormal cortical bone morphology
ORPHA:970	KIF1A	547	HP:0005930	Abnormality of epiphysis morphology
ORPHA:970	KIF1A	547	HP:0003028	Abnormality of the ankles
ORPHA:970	KIF1A	547	HP:0008391	Dystrophic fingernails
ORPHA:970	KIF1A	547	HP:0001182	Tapered finger
ORPHA:970	KIF1A	547	HP:0001842	Foot acroosteolysis
ORPHA:970	KIF1A	547	HP:0002815	Abnormality of the knee
ORPHA:970	WNK1	65125	HP:0003307	Hyperlordosis
ORPHA:970	WNK1	65125	HP:0002645	Wormian bones
ORPHA:970	WNK1	65125	HP:0003202	Skeletal muscle atrophy
ORPHA:970	WNK1	65125	HP:0001810	Dystrophic toenail
ORPHA:970	WNK1	65125	HP:0004349	Reduced bone mineral density
ORPHA:970	WNK1	65125	HP:0003272	Abnormality of the hip bone
ORPHA:970	WNK1	65125	HP:0000975	Hyperhidrosis
ORPHA:970	WNK1	65125	HP:0003103	Abnormal cortical bone morphology
ORPHA:970	WNK1	65125	HP:0005930	Abnormality of epiphysis morphology
ORPHA:970	WNK1	65125	HP:0003028	Abnormality of the ankles
ORPHA:970	WNK1	65125	HP:0008391	Dystrophic fingernails
ORPHA:970	WNK1	65125	HP:0001182	Tapered finger
ORPHA:970	WNK1	65125	HP:0001842	Foot acroosteolysis
ORPHA:970	WNK1	65125	HP:0002815	Abnormality of the knee
ORPHA:970	SCN9A	6335	HP:0003307	Hyperlordosis
ORPHA:970	SCN9A	6335	HP:0002645	Wormian bones
ORPHA:970	SCN9A	6335	HP:0003202	Skeletal muscle atrophy
ORPHA:970	SCN9A	6335	HP:0001810	Dystrophic toenail
ORPHA:970	SCN9A	6335	HP:0004349	Reduced bone mineral density
ORPHA:970	SCN9A	6335	HP:0003272	Abnormality of the hip bone
ORPHA:970	SCN9A	6335	HP:0000975	Hyperhidrosis
ORPHA:970	SCN9A	6335	HP:0003103	Abnormal cortical bone morphology
ORPHA:970	SCN9A	6335	HP:0005930	Abnormality of epiphysis morphology
ORPHA:970	SCN9A	6335	HP:0003028	Abnormality of the ankles
ORPHA:970	SCN9A	6335	HP:0008391	Dystrophic fingernails
ORPHA:970	SCN9A	6335	HP:0001182	Tapered finger
ORPHA:970	SCN9A	6335	HP:0001842	Foot acroosteolysis
ORPHA:970	SCN9A	6335	HP:0002815	Abnormality of the knee
ORPHA:970	RETREG1	54463	HP:0003307	Hyperlordosis
ORPHA:970	RETREG1	54463	HP:0002645	Wormian bones
ORPHA:970	RETREG1	54463	HP:0003202	Skeletal muscle atrophy
ORPHA:970	RETREG1	54463	HP:0001810	Dystrophic toenail
ORPHA:970	RETREG1	54463	HP:0004349	Reduced bone mineral density
ORPHA:970	RETREG1	54463	HP:0003272	Abnormality of the hip bone
ORPHA:970	RETREG1	54463	HP:0000975	Hyperhidrosis
ORPHA:970	RETREG1	54463	HP:0003103	Abnormal cortical bone morphology
ORPHA:970	RETREG1	54463	HP:0005930	Abnormality of epiphysis morphology
ORPHA:970	RETREG1	54463	HP:0003028	Abnormality of the ankles
ORPHA:970	RETREG1	54463	HP:0008391	Dystrophic fingernails
ORPHA:970	RETREG1	54463	HP:0001182	Tapered finger
ORPHA:970	RETREG1	54463	HP:0001842	Foot acroosteolysis
ORPHA:970	RETREG1	54463	HP:0002815	Abnormality of the knee
OMIM:303900	OPN1LW	5956	HP:0200018	Protanomaly
OMIM:303900	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:311150	TIMM8A	1678	HP:0002514	Cerebral calcification
OMIM:311150	TIMM8A	1678	HP:0008610	Infantile sensorineural hearing impairment
OMIM:311150	TIMM8A	1678	HP:0000726	Dementia
OMIM:311150	TIMM8A	1678	HP:0003700	Generalized amyotrophy
OMIM:311150	TIMM8A	1678	HP:0001417	X-linked inheritance
OMIM:311150	TIMM8A	1678	HP:0000648	Optic atrophy
OMIM:311150	TIMM8A	1678	HP:0000618	Blindness
OMIM:111150	KLF1	10661	HP:0010971	Absence of Lutheran antigen on erythrocytes
OMIM:208900	ATM	472	HP:0000778	Hypoplasia of the thymus
OMIM:208900	ATM	472	HP:0000823	Delayed puberty
OMIM:208900	ATM	472	HP:0000524	Conjunctival telangiectasia
OMIM:208900	ATM	472	HP:0000246	Sinusitis
OMIM:208900	ATM	472	HP:0000639	Nystagmus
OMIM:208900	ATM	472	HP:0001315	Reduced tendon reflexes
OMIM:208900	ATM	472	HP:0000134	Female hypogonadism
OMIM:208900	ATM	472	HP:0000833	Glucose intolerance
OMIM:208900	ATM	472	HP:0001250	Seizures
OMIM:208900	ATM	472	HP:0002837	Recurrent bronchitis
OMIM:208900	ATM	472	HP:0001909	Leukemia
OMIM:208900	ATM	472	HP:0008669	Abnormal spermatogenesis
OMIM:208900	ATM	472	HP:0001260	Dysarthria
OMIM:208900	ATM	472	HP:0004322	Short stature
OMIM:208900	ATM	472	HP:0001337	Tremor
OMIM:208900	ATM	472	HP:0002110	Bronchiectasis
OMIM:208900	ATM	472	HP:0005407	Decreased number of CD4+ T cells
OMIM:208900	ATM	472	HP:0005357	Defective B cell differentiation
OMIM:208900	ATM	472	HP:0001251	Ataxia
OMIM:208900	ATM	472	HP:0006254	Elevated alpha-fetoprotein
OMIM:208900	ATM	472	HP:0008348	Immunoglobulin IgG2 deficiency
OMIM:208900	ATM	472	HP:0000486	Strabismus
OMIM:208900	ATM	472	HP:0000957	Cafe-au-lait spot
OMIM:208900	ATM	472	HP:0002720	IgA deficiency
OMIM:208900	ATM	472	HP:0012539	Non-Hodgkin lymphoma
OMIM:208900	ATM	472	HP:0001332	Dystonia
OMIM:208900	ATM	472	HP:0001266	Choreoathetosis
OMIM:208900	ATM	472	HP:0001595	Abnormality of the hair
OMIM:208900	ATM	472	HP:0000819	Diabetes mellitus
OMIM:208900	ATM	472	HP:0001336	Myoclonus
OMIM:208900	ATM	472	HP:0012189	Hodgkin lymphoma
OMIM:208900	ATM	472	HP:0000007	Autosomal recessive inheritance
ORPHA:1308	CD96	10225	HP:0000463	Anteverted nares
ORPHA:1308	CD96	10225	HP:0000486	Strabismus
ORPHA:1308	CD96	10225	HP:0001249	Intellectual disability
ORPHA:1308	CD96	10225	HP:0000191	Accessory oral frenulum
ORPHA:1308	CD96	10225	HP:0010978	Abnormality of immune system physiology
ORPHA:1308	CD96	10225	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1308	CD96	10225	HP:0000286	Epicanthus
ORPHA:1308	CD96	10225	HP:0000233	Thin vermilion border
ORPHA:1308	CD96	10225	HP:0005280	Depressed nasal bridge
ORPHA:1308	CD96	10225	HP:0000252	Microcephaly
ORPHA:1308	CD96	10225	HP:0000470	Short neck
ORPHA:1308	CD96	10225	HP:0001376	Limitation of joint mobility
ORPHA:1308	CD96	10225	HP:0000343	Long philtrum
ORPHA:1308	CD96	10225	HP:0001250	Seizures
ORPHA:1308	CD96	10225	HP:0003083	Dislocated radial head
ORPHA:1308	CD96	10225	HP:0000218	High palate
ORPHA:1308	CD96	10225	HP:0001582	Redundant skin
ORPHA:1308	CD96	10225	HP:0007601	Midline facial capillary hemangioma
ORPHA:1308	CD96	10225	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1308	CD96	10225	HP:0000582	Upslanted palpebral fissure
ORPHA:1308	CD96	10225	HP:0000319	Smooth philtrum
ORPHA:1308	CD96	10225	HP:0004322	Short stature
ORPHA:1308	CD96	10225	HP:0001883	Talipes
ORPHA:1308	CD96	10225	HP:0000212	Gingival overgrowth
ORPHA:1308	CD96	10225	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1308	CD96	10225	HP:0000347	Micrognathia
ORPHA:1308	CD96	10225	HP:0003196	Short nose
ORPHA:1308	CD96	10225	HP:0100720	Hypoplasia of the ear cartilage
ORPHA:1308	CD96	10225	HP:0000028	Cryptorchidism
ORPHA:1308	CD96	10225	HP:0004378	Abnormality of the anus
ORPHA:1308	CD96	10225	HP:0000960	Sacral dimple
ORPHA:1308	CD96	10225	HP:0002983	Micromelia
ORPHA:1308	CD96	10225	HP:0001531	Failure to thrive in infancy
ORPHA:1308	CD96	10225	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1308	CD96	10225	HP:0000243	Trigonocephaly
ORPHA:1308	CD96	10225	HP:0004422	Biparietal narrowing
ORPHA:1308	CD96	10225	HP:0001252	Muscular hypotonia
ORPHA:1308	CD96	10225	HP:0010458	Female pseudohermaphroditism
ORPHA:1308	CD96	10225	HP:0000767	Pectus excavatum
OMIM:613587	RP1L1	94137	HP:0007754	Macular dystrophy
OMIM:613587	RP1L1	94137	HP:0007924	Slow decrease in visual acuity
OMIM:613587	RP1L1	94137	HP:0030636	Occult macular dystrophy
OMIM:613587	RP1L1	94137	HP:0000006	Autosomal dominant inheritance
OMIM:610419	S1PR2	9294	HP:0000407	Sensorineural hearing impairment
OMIM:610419	S1PR2	9294	HP:0003593	Infantile onset
OMIM:610419	S1PR2	9294	HP:0000007	Autosomal recessive inheritance
OMIM:300607	ARHGEF9	23229	HP:0006887	Intellectual disability, progressive
OMIM:300607	ARHGEF9	23229	HP:0010864	Intellectual disability, severe
OMIM:300607	ARHGEF9	23229	HP:0001276	Hypertonia
OMIM:300607	ARHGEF9	23229	HP:0002267	Exaggerated startle response
OMIM:300607	ARHGEF9	23229	HP:0200134	Epileptic encephalopathy
OMIM:300607	ARHGEF9	23229	HP:0001419	X-linked recessive inheritance
OMIM:300607	ARHGEF9	23229	HP:0003577	Congenital onset
OMIM:300607	ARHGEF9	23229	HP:0001250	Seizures
OMIM:130020	COL3A1	1281	HP:0000977	Soft skin
OMIM:130020	COL3A1	1281	HP:0001388	Joint laxity
OMIM:130020	COL3A1	1281	HP:0000974	Hyperextensible skin
OMIM:130020	COL3A1	1281	HP:0000006	Autosomal dominant inheritance
OMIM:130020	COL3A1	1281	HP:0001065	Striae distensae
OMIM:130020	COL3A1	1281	HP:0001382	Joint hypermobility
OMIM:130020	COL3A1	1281	HP:0001634	Mitral valve prolapse
OMIM:130020	COL3A1	1281	HP:0002758	Osteoarthritis
OMIM:130020	COL3A1	1281	HP:0001373	Joint dislocation
OMIM:601369	COCH	1690	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	COCH	1690	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601369	COCH	1690	HP:0000360	Tinnitus
OMIM:601369	COCH	1690	HP:0005102	Cochlear degeneration
OMIM:601369	COCH	1690	HP:0011462	Young adult onset
OMIM:601369	COCH	1690	HP:0002321	Vertigo
OMIM:601369	COCH	1690	HP:0003676	Progressive
OMIM:615544	ERMARD	55780	HP:0000750	Delayed speech and language development
OMIM:615544	ERMARD	55780	HP:0001263	Global developmental delay
OMIM:615544	ERMARD	55780	HP:0000486	Strabismus
OMIM:615544	ERMARD	55780	HP:0002282	Heterotopia
OMIM:615544	ERMARD	55780	HP:0001250	Seizures
OMIM:615544	ERMARD	55780	HP:0000006	Autosomal dominant inheritance
OMIM:615544	ERMARD	55780	HP:0002521	Hypsarrhythmia
OMIM:154700	FBN1	2200	HP:0000268	Dolichocephaly
OMIM:154700	FBN1	2200	HP:0000490	Deeply set eye
OMIM:154700	FBN1	2200	HP:0000218	High palate
OMIM:154700	FBN1	2200	HP:0000275	Narrow face
OMIM:154700	FBN1	2200	HP:0003088	Premature osteoarthritis
OMIM:154700	FBN1	2200	HP:0008132	Medial rotation of the medial malleolus
OMIM:154700	FBN1	2200	HP:0002631	Dilatation of ascending aorta
OMIM:154700	FBN1	2200	HP:0002616	Aortic root dilatation
OMIM:154700	FBN1	2200	HP:0000541	Retinal detachment
OMIM:154700	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:154700	FBN1	2200	HP:0004872	Incisional hernia
OMIM:154700	FBN1	2200	HP:0001065	Striae distensae
OMIM:154700	FBN1	2200	HP:0000272	Malar flattening
OMIM:154700	FBN1	2200	HP:0000278	Retrognathia
OMIM:154700	FBN1	2200	HP:0000494	Downslanted palpebral fissures
OMIM:154700	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:154700	FBN1	2200	HP:0001765	Hammertoe
OMIM:154700	FBN1	2200	HP:0003302	Spondylolisthesis
OMIM:154700	FBN1	2200	HP:0002816	Genu recurvatum
OMIM:154700	FBN1	2200	HP:0007800	Increased axial globe length
OMIM:154700	FBN1	2200	HP:0000545	Myopia
OMIM:154700	FBN1	2200	HP:0007676	Hypoplasia of the iris
OMIM:154700	FBN1	2200	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:154700	FBN1	2200	HP:0002647	Aortic dissection
OMIM:154700	FBN1	2200	HP:0000678	Dental crowding
OMIM:154700	FBN1	2200	HP:0000768	Pectus carinatum
OMIM:154700	FBN1	2200	HP:0100775	Dural ectasia
OMIM:154700	FBN1	2200	HP:0001763	Pes planus
OMIM:154700	FBN1	2200	HP:0000347	Micrognathia
OMIM:154700	FBN1	2200	HP:0001659	Aortic regurgitation
OMIM:154700	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:154700	FBN1	2200	HP:0001635	Congestive heart failure
OMIM:154700	FBN1	2200	HP:0000189	Narrow palate
OMIM:154700	FBN1	2200	HP:0000276	Long face
OMIM:154700	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:154700	FBN1	2200	HP:0002107	Pneumothorax
OMIM:154700	FBN1	2200	HP:0004927	Pulmonary artery dilatation
OMIM:154700	FBN1	2200	HP:0001704	Tricuspid valve prolapse
OMIM:154700	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:154700	FBN1	2200	HP:0001761	Pes cavus
OMIM:154700	FBN1	2200	HP:0005136	Mitral annular calcification
OMIM:154700	FBN1	2200	HP:0002751	Kyphoscoliosis
OMIM:154700	FBN1	2200	HP:0001371	Flexion contracture
OMIM:154700	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:154700	FBN1	2200	HP:0000518	Cataract
OMIM:154700	FBN1	2200	HP:0000501	Glaucoma
OMIM:154700	FBN1	2200	HP:0003179	Protrusio acetabuli
OMIM:154700	FBN1	2200	HP:0000098	Tall stature
OMIM:154700	FBN1	2200	HP:0001382	Joint hypermobility
OMIM:154700	FBN1	2200	HP:0003199	Decreased muscle mass
OMIM:126700	CFH	3075	HP:0000529	Progressive visual loss
OMIM:126700	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:614508	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:614508	RAD51	5888	HP:0001335	Bimanual synkinesia
OMIM:262890	ANO6	196527	HP:0000007	Autosomal recessive inheritance
OMIM:262890	ANO6	196527	HP:0001892	Abnormal bleeding
OMIM:262890	ANO6	196527	HP:0008354	Factor X activation deficiency
OMIM:615918	TARS2	80222	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615918	TARS2	80222	HP:0000007	Autosomal recessive inheritance
OMIM:615918	TARS2	80222	HP:0001290	Generalized hypotonia
OMIM:615918	TARS2	80222	HP:0002151	Increased serum lactate
OMIM:615918	TARS2	80222	HP:0003577	Congenital onset
OMIM:615918	TARS2	80222	HP:0008936	Muscular hypotonia of the trunk
OMIM:615918	TARS2	80222	HP:0002509	Limb hypertonia
OMIM:615918	TARS2	80222	HP:0001397	Hepatic steatosis
OMIM:615918	TARS2	80222	HP:0001263	Global developmental delay
OMIM:202400	FGA	2243	HP:0001892	Abnormal bleeding
OMIM:202400	FGA	2243	HP:0012223	Splenic rupture
OMIM:202400	FGA	2243	HP:0000007	Autosomal recessive inheritance
OMIM:202400	FGA	2243	HP:0011900	Hypofibrinogenemia
OMIM:202400	FGB	2244	HP:0001892	Abnormal bleeding
OMIM:202400	FGB	2244	HP:0012223	Splenic rupture
OMIM:202400	FGB	2244	HP:0000007	Autosomal recessive inheritance
OMIM:202400	FGB	2244	HP:0011900	Hypofibrinogenemia
OMIM:202400	FGG	2266	HP:0001892	Abnormal bleeding
OMIM:202400	FGG	2266	HP:0012223	Splenic rupture
OMIM:202400	FGG	2266	HP:0000007	Autosomal recessive inheritance
OMIM:202400	FGG	2266	HP:0011900	Hypofibrinogenemia
ORPHA:231169	PCDH15	65217	HP:0000375	Abnormality of cochlea
ORPHA:231169	PCDH15	65217	HP:0001251	Ataxia
ORPHA:231169	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	PCDH15	65217	HP:0000575	Scotoma
ORPHA:231169	PCDH15	65217	HP:0007730	Iris hypopigmentation
ORPHA:231169	PCDH15	65217	HP:0100753	Schizophrenia
ORPHA:231169	PCDH15	65217	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	PCDH15	65217	HP:0012377	Hemianopia
ORPHA:231169	PCDH15	65217	HP:0008499	High-grade hypermetropia
ORPHA:231169	PCDH15	65217	HP:0000662	Nyctalopia
ORPHA:231169	PCDH15	65217	HP:0001249	Intellectual disability
ORPHA:231169	PCDH15	65217	HP:0000518	Cataract
ORPHA:231169	PCDH15	65217	HP:0000512	Abnormal electroretinogram
ORPHA:231169	PCDH15	65217	HP:0001756	Vestibular hypofunction
ORPHA:231169	PCDH15	65217	HP:0000572	Visual loss
ORPHA:231169	PCDH15	65217	HP:0001263	Global developmental delay
ORPHA:231169	USH1C	10083	HP:0000375	Abnormality of cochlea
ORPHA:231169	USH1C	10083	HP:0001251	Ataxia
ORPHA:231169	USH1C	10083	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	USH1C	10083	HP:0000575	Scotoma
ORPHA:231169	USH1C	10083	HP:0007730	Iris hypopigmentation
ORPHA:231169	USH1C	10083	HP:0100753	Schizophrenia
ORPHA:231169	USH1C	10083	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	USH1C	10083	HP:0012377	Hemianopia
ORPHA:231169	USH1C	10083	HP:0008499	High-grade hypermetropia
ORPHA:231169	USH1C	10083	HP:0000662	Nyctalopia
ORPHA:231169	USH1C	10083	HP:0001249	Intellectual disability
ORPHA:231169	USH1C	10083	HP:0000518	Cataract
ORPHA:231169	USH1C	10083	HP:0000512	Abnormal electroretinogram
ORPHA:231169	USH1C	10083	HP:0001756	Vestibular hypofunction
ORPHA:231169	USH1C	10083	HP:0000572	Visual loss
ORPHA:231169	USH1C	10083	HP:0001263	Global developmental delay
ORPHA:231169	CIB2	10518	HP:0000375	Abnormality of cochlea
ORPHA:231169	CIB2	10518	HP:0001251	Ataxia
ORPHA:231169	CIB2	10518	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	CIB2	10518	HP:0000575	Scotoma
ORPHA:231169	CIB2	10518	HP:0007730	Iris hypopigmentation
ORPHA:231169	CIB2	10518	HP:0100753	Schizophrenia
ORPHA:231169	CIB2	10518	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	CIB2	10518	HP:0012377	Hemianopia
ORPHA:231169	CIB2	10518	HP:0008499	High-grade hypermetropia
ORPHA:231169	CIB2	10518	HP:0000662	Nyctalopia
ORPHA:231169	CIB2	10518	HP:0001249	Intellectual disability
ORPHA:231169	CIB2	10518	HP:0000518	Cataract
ORPHA:231169	CIB2	10518	HP:0000512	Abnormal electroretinogram
ORPHA:231169	CIB2	10518	HP:0001756	Vestibular hypofunction
ORPHA:231169	CIB2	10518	HP:0000572	Visual loss
ORPHA:231169	CIB2	10518	HP:0001263	Global developmental delay
ORPHA:231169	MYO7A	4647	HP:0000375	Abnormality of cochlea
ORPHA:231169	MYO7A	4647	HP:0001251	Ataxia
ORPHA:231169	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	MYO7A	4647	HP:0000575	Scotoma
ORPHA:231169	MYO7A	4647	HP:0007730	Iris hypopigmentation
ORPHA:231169	MYO7A	4647	HP:0100753	Schizophrenia
ORPHA:231169	MYO7A	4647	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	MYO7A	4647	HP:0012377	Hemianopia
ORPHA:231169	MYO7A	4647	HP:0008499	High-grade hypermetropia
ORPHA:231169	MYO7A	4647	HP:0000662	Nyctalopia
ORPHA:231169	MYO7A	4647	HP:0001249	Intellectual disability
ORPHA:231169	MYO7A	4647	HP:0000518	Cataract
ORPHA:231169	MYO7A	4647	HP:0000512	Abnormal electroretinogram
ORPHA:231169	MYO7A	4647	HP:0001756	Vestibular hypofunction
ORPHA:231169	MYO7A	4647	HP:0000572	Visual loss
ORPHA:231169	MYO7A	4647	HP:0001263	Global developmental delay
ORPHA:231169	CDH23	64072	HP:0000375	Abnormality of cochlea
ORPHA:231169	CDH23	64072	HP:0001251	Ataxia
ORPHA:231169	CDH23	64072	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	CDH23	64072	HP:0000575	Scotoma
ORPHA:231169	CDH23	64072	HP:0007730	Iris hypopigmentation
ORPHA:231169	CDH23	64072	HP:0100753	Schizophrenia
ORPHA:231169	CDH23	64072	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	CDH23	64072	HP:0012377	Hemianopia
ORPHA:231169	CDH23	64072	HP:0008499	High-grade hypermetropia
ORPHA:231169	CDH23	64072	HP:0000662	Nyctalopia
ORPHA:231169	CDH23	64072	HP:0001249	Intellectual disability
ORPHA:231169	CDH23	64072	HP:0000518	Cataract
ORPHA:231169	CDH23	64072	HP:0000512	Abnormal electroretinogram
ORPHA:231169	CDH23	64072	HP:0001756	Vestibular hypofunction
ORPHA:231169	CDH23	64072	HP:0000572	Visual loss
ORPHA:231169	CDH23	64072	HP:0001263	Global developmental delay
ORPHA:231169	USH1G	124590	HP:0000375	Abnormality of cochlea
ORPHA:231169	USH1G	124590	HP:0001251	Ataxia
ORPHA:231169	USH1G	124590	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	USH1G	124590	HP:0000575	Scotoma
ORPHA:231169	USH1G	124590	HP:0007730	Iris hypopigmentation
ORPHA:231169	USH1G	124590	HP:0100753	Schizophrenia
ORPHA:231169	USH1G	124590	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	USH1G	124590	HP:0012377	Hemianopia
ORPHA:231169	USH1G	124590	HP:0008499	High-grade hypermetropia
ORPHA:231169	USH1G	124590	HP:0000662	Nyctalopia
ORPHA:231169	USH1G	124590	HP:0001249	Intellectual disability
ORPHA:231169	USH1G	124590	HP:0000518	Cataract
ORPHA:231169	USH1G	124590	HP:0000512	Abnormal electroretinogram
ORPHA:231169	USH1G	124590	HP:0001756	Vestibular hypofunction
ORPHA:231169	USH1G	124590	HP:0000572	Visual loss
ORPHA:231169	USH1G	124590	HP:0001263	Global developmental delay
ORPHA:281090	STS	412	HP:0002357	Dysphasia
ORPHA:281090	STS	412	HP:0001249	Intellectual disability
ORPHA:281090	STS	412	HP:0001263	Global developmental delay
ORPHA:281090	STS	412	HP:0000962	Hyperkeratosis
ORPHA:281090	STS	412	HP:0000966	Hypohidrosis
ORPHA:281090	STS	412	HP:0007957	Corneal opacity
ORPHA:281090	STS	412	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:281090	STS	412	HP:0008064	Ichthyosis
OMIM:121201	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:121201	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:121201	KCNQ3	3786	HP:0002266	Focal clonic seizures
OMIM:125370	ATN1	1822	HP:0010878	Fetal cystic hygroma
OMIM:125370	ATN1	1822	HP:0000006	Autosomal dominant inheritance
OMIM:125370	ATN1	1822	HP:0003743	Genetic anticipation
OMIM:125370	ATN1	1822	HP:0007047	Atrophy of the dentate nucleus
OMIM:125370	ATN1	1822	HP:0001266	Choreoathetosis
OMIM:300867	KDM6A	7403	HP:0000455	Broad nasal tip
OMIM:300867	KDM6A	7403	HP:0001250	Seizures
OMIM:300867	KDM6A	7403	HP:0004325	Decreased body weight
OMIM:300867	KDM6A	7403	HP:0000527	Long eyelashes
OMIM:300867	KDM6A	7403	HP:0000252	Microcephaly
OMIM:300867	KDM6A	7403	HP:0002553	Highly arched eyebrow
OMIM:300867	KDM6A	7403	HP:0000668	Hypodontia
OMIM:300867	KDM6A	7403	HP:0001263	Global developmental delay
OMIM:300867	KDM6A	7403	HP:0000411	Protruding ear
OMIM:300867	KDM6A	7403	HP:0000637	Long palpebral fissure
OMIM:300867	KDM6A	7403	HP:0000437	Depressed nasal tip
OMIM:300867	KDM6A	7403	HP:0004322	Short stature
OMIM:300867	KDM6A	7403	HP:0002000	Short columella
OMIM:300867	KDM6A	7403	HP:0001998	Neonatal hypoglycemia
OMIM:300867	KDM6A	7403	HP:0001290	Generalized hypotonia
OMIM:300867	KDM6A	7403	HP:0000708	Behavioral abnormality
OMIM:300867	KDM6A	7403	HP:0000218	High palate
OMIM:300867	KDM6A	7403	HP:0001212	Prominent fingertip pads
OMIM:300867	KDM6A	7403	HP:0001007	Hirsutism
OMIM:300867	KDM6A	7403	HP:0001423	X-linked dominant inheritance
OMIM:300867	KDM6A	7403	HP:0008872	Feeding difficulties in infancy
OMIM:300867	KDM6A	7403	HP:0011398	Central hypotonia
OMIM:300867	KDM6A	7403	HP:0000689	Dental malocclusion
OMIM:300867	KDM6A	7403	HP:0002761	Generalized joint laxity
OMIM:300867	KDM6A	7403	HP:0000769	Abnormality of the breast
OMIM:300867	KDM6A	7403	HP:0005338	Sparse lateral eyebrow
OMIM:300867	KDM6A	7403	HP:0000486	Strabismus
OMIM:300867	KDM6A	7403	HP:0007655	Eversion of lateral third of lower eyelids
OMIM:276300	PMS2	5395	HP:0001909	Leukemia
OMIM:276300	PMS2	5395	HP:0002665	Lymphoma
OMIM:276300	PMS2	5395	HP:0002671	Basal cell carcinoma
OMIM:276300	PMS2	5395	HP:0002888	Ependymoma
OMIM:276300	PMS2	5395	HP:0001034	Hypermelanotic macule
OMIM:276300	PMS2	5395	HP:0000007	Autosomal recessive inheritance
OMIM:276300	PMS2	5395	HP:0002859	Rhabdomyosarcoma
OMIM:276300	PMS2	5395	HP:0001438	Abnormality of abdomen morphology
OMIM:276300	PMS2	5395	HP:0000997	Axillary freckling
OMIM:276300	PMS2	5395	HP:0100843	Glioblastoma
OMIM:276300	PMS2	5395	HP:0002885	Medulloblastoma
OMIM:276300	PMS2	5395	HP:0000957	Cafe-au-lait spot
OMIM:276300	PMS2	5395	HP:0003006	Neuroblastoma
OMIM:276300	MLH1	4292	HP:0001909	Leukemia
OMIM:276300	MLH1	4292	HP:0002665	Lymphoma
OMIM:276300	MLH1	4292	HP:0002671	Basal cell carcinoma
OMIM:276300	MLH1	4292	HP:0002888	Ependymoma
OMIM:276300	MLH1	4292	HP:0001034	Hypermelanotic macule
OMIM:276300	MLH1	4292	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MLH1	4292	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MLH1	4292	HP:0001438	Abnormality of abdomen morphology
OMIM:276300	MLH1	4292	HP:0000997	Axillary freckling
OMIM:276300	MLH1	4292	HP:0100843	Glioblastoma
OMIM:276300	MLH1	4292	HP:0002885	Medulloblastoma
OMIM:276300	MLH1	4292	HP:0000957	Cafe-au-lait spot
OMIM:276300	MLH1	4292	HP:0003006	Neuroblastoma
OMIM:276300	MSH2	4436	HP:0001909	Leukemia
OMIM:276300	MSH2	4436	HP:0002665	Lymphoma
OMIM:276300	MSH2	4436	HP:0002671	Basal cell carcinoma
OMIM:276300	MSH2	4436	HP:0002888	Ependymoma
OMIM:276300	MSH2	4436	HP:0001034	Hypermelanotic macule
OMIM:276300	MSH2	4436	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MSH2	4436	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MSH2	4436	HP:0001438	Abnormality of abdomen morphology
OMIM:276300	MSH2	4436	HP:0000997	Axillary freckling
OMIM:276300	MSH2	4436	HP:0100843	Glioblastoma
OMIM:276300	MSH2	4436	HP:0002885	Medulloblastoma
OMIM:276300	MSH2	4436	HP:0000957	Cafe-au-lait spot
OMIM:276300	MSH2	4436	HP:0003006	Neuroblastoma
OMIM:276300	MSH6	2956	HP:0001909	Leukemia
OMIM:276300	MSH6	2956	HP:0002665	Lymphoma
OMIM:276300	MSH6	2956	HP:0002671	Basal cell carcinoma
OMIM:276300	MSH6	2956	HP:0002888	Ependymoma
OMIM:276300	MSH6	2956	HP:0001034	Hypermelanotic macule
OMIM:276300	MSH6	2956	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MSH6	2956	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MSH6	2956	HP:0001438	Abnormality of abdomen morphology
OMIM:276300	MSH6	2956	HP:0000997	Axillary freckling
OMIM:276300	MSH6	2956	HP:0100843	Glioblastoma
OMIM:276300	MSH6	2956	HP:0002885	Medulloblastoma
OMIM:276300	MSH6	2956	HP:0000957	Cafe-au-lait spot
OMIM:276300	MSH6	2956	HP:0003006	Neuroblastoma
OMIM:607426	COQ2	27235	HP:0003128	Lactic acidosis
OMIM:607426	COQ2	27235	HP:0002172	Postural instability
OMIM:607426	COQ2	27235	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607426	COQ2	27235	HP:0001903	Anemia
OMIM:607426	COQ2	27235	HP:0000100	Nephrotic syndrome
OMIM:607426	COQ2	27235	HP:0000007	Autosomal recessive inheritance
OMIM:607426	COQ2	27235	HP:0001249	Intellectual disability
OMIM:607426	COQ2	27235	HP:0001251	Ataxia
OMIM:607426	COQ2	27235	HP:0000510	Rod-cone dystrophy
OMIM:607426	COQ2	27235	HP:0003652	Recurrent myoglobinuria
OMIM:607426	COQ2	27235	HP:0001272	Cerebellar atrophy
OMIM:607426	COQ2	27235	HP:0003323	Progressive muscle weakness
OMIM:607426	COQ2	27235	HP:0003200	Ragged-red muscle fibers
OMIM:607426	COQ2	27235	HP:0003674	Onset
OMIM:607426	COQ2	27235	HP:0000572	Visual loss
OMIM:607426	COQ2	27235	HP:0001399	Hepatic failure
OMIM:607426	COQ2	27235	HP:0003812	Phenotypic variability
OMIM:607426	COQ2	27235	HP:0000815	Hypergonadotropic hypogonadism
OMIM:607426	COQ2	27235	HP:0002168	Scanning speech
OMIM:607426	COQ2	27235	HP:0001260	Dysarthria
OMIM:607426	COQ2	27235	HP:0001328	Specific learning disability
OMIM:607426	COQ2	27235	HP:0000639	Nystagmus
OMIM:607426	COQ2	27235	HP:0000096	Glomerulosclerosis
OMIM:607426	COQ2	27235	HP:0001298	Encephalopathy
OMIM:607426	COQ2	27235	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607426	COQ2	27235	HP:0000407	Sensorineural hearing impairment
OMIM:607426	COQ2	27235	HP:0001270	Motor delay
OMIM:607426	COQ2	27235	HP:0001250	Seizures
OMIM:607426	COQ2	27235	HP:0001876	Pancytopenia
OMIM:117650	SNRPB	6628	HP:0001374	Congenital hip dislocation
OMIM:117650	SNRPB	6628	HP:0000286	Epicanthus
OMIM:117650	SNRPB	6628	HP:0000347	Micrognathia
OMIM:117650	SNRPB	6628	HP:0000164	Abnormality of the dentition
OMIM:117650	SNRPB	6628	HP:0004209	Clinodactyly of the 5th finger
OMIM:117650	SNRPB	6628	HP:0010290	Short hard palate
OMIM:117650	SNRPB	6628	HP:0002643	Neonatal respiratory distress
OMIM:117650	SNRPB	6628	HP:0001591	Bell-shaped thorax
OMIM:117650	SNRPB	6628	HP:0000185	Cleft soft palate
OMIM:117650	SNRPB	6628	HP:0000006	Autosomal dominant inheritance
OMIM:117650	SNRPB	6628	HP:0005792	Short humerus
OMIM:117650	SNRPB	6628	HP:0005257	Thoracic hypoplasia
OMIM:117650	SNRPB	6628	HP:0008897	Postnatal growth retardation
OMIM:117650	SNRPB	6628	HP:0000085	Horseshoe kidney
OMIM:117650	SNRPB	6628	HP:0000343	Long philtrum
OMIM:117650	SNRPB	6628	HP:0001611	Nasal speech
OMIM:117650	SNRPB	6628	HP:0000107	Renal cyst
OMIM:117650	SNRPB	6628	HP:0000007	Autosomal recessive inheritance
OMIM:117650	SNRPB	6628	HP:0000369	Low-set ears
OMIM:117650	SNRPB	6628	HP:0004468	Anomalous tracheal cartilage
OMIM:117650	SNRPB	6628	HP:0004695	Calcaneal epiphyseal stippling
OMIM:117650	SNRPB	6628	HP:0000878	11 pairs of ribs
OMIM:117650	SNRPB	6628	HP:0000086	Ectopic kidney
OMIM:117650	SNRPB	6628	HP:0002020	Gastroesophageal reflux
OMIM:117650	SNRPB	6628	HP:0000252	Microcephaly
OMIM:117650	SNRPB	6628	HP:0001561	Polyhydramnios
OMIM:117650	SNRPB	6628	HP:0002987	Elbow flexion contracture
OMIM:117650	SNRPB	6628	HP:0000272	Malar flattening
OMIM:117650	SNRPB	6628	HP:0001631	Atrial septal defect
OMIM:117650	SNRPB	6628	HP:0000358	Posteriorly rotated ears
OMIM:117650	SNRPB	6628	HP:0000405	Conductive hearing impairment
OMIM:117650	SNRPB	6628	HP:0006593	Anomalous rib insertion to vertebrae
OMIM:117650	SNRPB	6628	HP:0002132	Porencephalic cyst
OMIM:117650	SNRPB	6628	HP:0001629	Ventricular septal defect
OMIM:117650	SNRPB	6628	HP:0000465	Webbed neck
OMIM:117650	SNRPB	6628	HP:0000218	High palate
OMIM:117650	SNRPB	6628	HP:0001643	Patent ductus arteriosus
OMIM:117650	SNRPB	6628	HP:0002650	Scoliosis
OMIM:117650	SNRPB	6628	HP:0000162	Glossoptosis
OMIM:615005	KCNT1	57582	HP:0100543	Cognitive impairment
OMIM:615005	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:615005	KCNT1	57582	HP:0007359	Focal seizures
OMIM:615005	KCNT1	57582	HP:0000716	Depressivity
OMIM:103900	CYP11B1	1584	HP:0000822	Hypertension
OMIM:103900	CYP11B1	1584	HP:0000859	Hyperaldosteronism
OMIM:103900	CYP11B1	1584	HP:0003351	Decreased circulating renin level
OMIM:103900	CYP11B1	1584	HP:0003674	Onset
OMIM:103900	CYP11B1	1584	HP:0000006	Autosomal dominant inheritance
OMIM:103900	CYP11B1	1584	HP:0000840	Adrenogenital syndrome
OMIM:103900	CYP11B1	1584	HP:0008221	Adrenal hyperplasia
OMIM:103900	CYP11B1	1584	HP:0000079	Abnormality of the urinary system
OMIM:225200	ADAMTSL4	54507	HP:0000007	Autosomal recessive inheritance
OMIM:225200	ADAMTSL4	54507	HP:0001083	Ectopia lentis
OMIM:225200	ADAMTSL4	54507	HP:0000518	Cataract
OMIM:616171	PLK4	10733	HP:0000568	Microphthalmia
OMIM:616171	PLK4	10733	HP:0001263	Global developmental delay
OMIM:616171	PLK4	10733	HP:0004322	Short stature
OMIM:616171	PLK4	10733	HP:0000518	Cataract
OMIM:616171	PLK4	10733	HP:0001249	Intellectual disability
OMIM:616171	PLK4	10733	HP:0009879	Cortical gyral simplification
OMIM:616171	PLK4	10733	HP:0003577	Congenital onset
OMIM:616171	PLK4	10733	HP:0000482	Microcornea
OMIM:616171	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:616171	PLK4	10733	HP:0000340	Sloping forehead
OMIM:616171	PLK4	10733	HP:0000252	Microcephaly
OMIM:616171	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:616171	PLK4	10733	HP:0000505	Visual impairment
OMIM:616171	PLK4	10733	HP:0000347	Micrognathia
OMIM:616171	PLK4	10733	HP:0001272	Cerebellar atrophy
OMIM:616171	PLK4	10733	HP:0002059	Cerebral atrophy
OMIM:616341	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:616341	SIK1	150094	HP:0001344	Absent speech
OMIM:616341	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SIK1	150094	HP:0002098	Respiratory distress
OMIM:616341	SIK1	150094	HP:0011968	Feeding difficulties
OMIM:616341	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616341	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:616341	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:616341	SIK1	150094	HP:0002069	Generalized tonic-clonic seizures
OMIM:202700	ELANE	1991	HP:0000007	Autosomal recessive inheritance
OMIM:202700	ELANE	1991	HP:0005541	Congenital agranulocytosis
OMIM:202700	ELANE	1991	HP:0001880	Eosinophilia
OMIM:202700	ELANE	1991	HP:0000006	Autosomal dominant inheritance
OMIM:202700	ELANE	1991	HP:0003593	Infantile onset
OMIM:202700	ELANE	1991	HP:0001894	Thrombocytosis
OMIM:202700	ELANE	1991	HP:0002718	Recurrent bacterial infections
OMIM:202700	ELANE	1991	HP:0012311	Monocytosis
OMIM:202700	ELANE	1991	HP:0010702	Increased antibody level in blood
OMIM:202700	ELANE	1991	HP:0001875	Neutropenia
OMIM:202700	ELANE	1991	HP:0001507	Growth abnormality
OMIM:202700	ELANE	1991	HP:0001903	Anemia
OMIM:202700	ELANE	1991	HP:0004845	Acute monocytic leukemia
OMIM:158330	WNT4	54361	HP:0008655	Aplasia/Hypoplasia of the fallopian tube
OMIM:158330	WNT4	54361	HP:0000006	Autosomal dominant inheritance
OMIM:158330	WNT4	54361	HP:0003250	Aplasia of the vagina
OMIM:158330	WNT4	54361	HP:0001007	Hirsutism
OMIM:158330	WNT4	54361	HP:0001061	Acne
OMIM:158330	WNT4	54361	HP:0000151	Aplasia of the uterus
OMIM:158330	WNT4	54361	HP:0000141	Amenorrhea
ORPHA:79102	CACNA1S	779	HP:0000975	Hyperhidrosis
ORPHA:79102	CACNA1S	779	HP:0003201	Rhabdomyolysis
ORPHA:79102	CACNA1S	779	HP:0003457	EMG abnormality
ORPHA:79102	CACNA1S	779	HP:0002917	Hypomagnesemia
ORPHA:79102	CACNA1S	779	HP:0007340	Lower limb muscle weakness
ORPHA:79102	CACNA1S	779	HP:0002019	Constipation
ORPHA:79102	CACNA1S	779	HP:0003752	Episodic flaccid weakness
ORPHA:79102	CACNA1S	779	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:79102	CACNA1S	779	HP:0008285	Transient hypophosphatemia
ORPHA:79102	CACNA1S	779	HP:0003394	Muscle cramps
ORPHA:79102	CACNA1S	779	HP:0011998	Postprandial hyperglycemia
ORPHA:79102	CACNA1S	779	HP:0012364	Decreased urinary potassium
ORPHA:79102	CACNA1S	779	HP:0003552	Muscle stiffness
ORPHA:79102	CACNA1S	779	HP:0012726	Episodic hypokalemia
ORPHA:79102	CACNA1S	779	HP:0100647	Graves disease
ORPHA:79102	CACNA1S	779	HP:0001824	Weight loss
ORPHA:79102	CACNA1S	779	HP:0011785	Thyrotoxicosis with toxic multinodular goitre
ORPHA:79102	CACNA1S	779	HP:0001962	Palpitations
ORPHA:79102	CACNA1S	779	HP:0009020	Exercise-induced muscle fatigue
ORPHA:79102	CACNA1S	779	HP:0002445	Tetraplegia
ORPHA:79102	CACNA1S	779	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:79102	CACNA1S	779	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
ORPHA:79102	CACNA1S	779	HP:0008153	Periodic hypokalemic paresis
ORPHA:79102	CACNA1S	779	HP:0000016	Urinary retention
ORPHA:79102	CACNA1S	779	HP:0001337	Tremor
ORPHA:79102	CACNA1S	779	HP:0001265	Hyporeflexia
ORPHA:79102	CACNA1S	779	HP:0001513	Obesity
ORPHA:79102	KCNJ18	100134444	HP:0000975	Hyperhidrosis
ORPHA:79102	KCNJ18	100134444	HP:0003201	Rhabdomyolysis
ORPHA:79102	KCNJ18	100134444	HP:0003457	EMG abnormality
ORPHA:79102	KCNJ18	100134444	HP:0002917	Hypomagnesemia
ORPHA:79102	KCNJ18	100134444	HP:0007340	Lower limb muscle weakness
ORPHA:79102	KCNJ18	100134444	HP:0002019	Constipation
ORPHA:79102	KCNJ18	100134444	HP:0003752	Episodic flaccid weakness
ORPHA:79102	KCNJ18	100134444	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:79102	KCNJ18	100134444	HP:0008285	Transient hypophosphatemia
ORPHA:79102	KCNJ18	100134444	HP:0003394	Muscle cramps
ORPHA:79102	KCNJ18	100134444	HP:0011998	Postprandial hyperglycemia
ORPHA:79102	KCNJ18	100134444	HP:0012364	Decreased urinary potassium
ORPHA:79102	KCNJ18	100134444	HP:0003552	Muscle stiffness
ORPHA:79102	KCNJ18	100134444	HP:0012726	Episodic hypokalemia
ORPHA:79102	KCNJ18	100134444	HP:0100647	Graves disease
ORPHA:79102	KCNJ18	100134444	HP:0001824	Weight loss
ORPHA:79102	KCNJ18	100134444	HP:0011785	Thyrotoxicosis with toxic multinodular goitre
ORPHA:79102	KCNJ18	100134444	HP:0001962	Palpitations
ORPHA:79102	KCNJ18	100134444	HP:0009020	Exercise-induced muscle fatigue
ORPHA:79102	KCNJ18	100134444	HP:0002445	Tetraplegia
ORPHA:79102	KCNJ18	100134444	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:79102	KCNJ18	100134444	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
ORPHA:79102	KCNJ18	100134444	HP:0008153	Periodic hypokalemic paresis
ORPHA:79102	KCNJ18	100134444	HP:0000016	Urinary retention
ORPHA:79102	KCNJ18	100134444	HP:0001337	Tremor
ORPHA:79102	KCNJ18	100134444	HP:0001265	Hyporeflexia
ORPHA:79102	KCNJ18	100134444	HP:0001513	Obesity
ORPHA:79102	GABRA3	2556	HP:0000975	Hyperhidrosis
ORPHA:79102	GABRA3	2556	HP:0003201	Rhabdomyolysis
ORPHA:79102	GABRA3	2556	HP:0003457	EMG abnormality
ORPHA:79102	GABRA3	2556	HP:0002917	Hypomagnesemia
ORPHA:79102	GABRA3	2556	HP:0007340	Lower limb muscle weakness
ORPHA:79102	GABRA3	2556	HP:0002019	Constipation
ORPHA:79102	GABRA3	2556	HP:0003752	Episodic flaccid weakness
ORPHA:79102	GABRA3	2556	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:79102	GABRA3	2556	HP:0008285	Transient hypophosphatemia
ORPHA:79102	GABRA3	2556	HP:0003394	Muscle cramps
ORPHA:79102	GABRA3	2556	HP:0011998	Postprandial hyperglycemia
ORPHA:79102	GABRA3	2556	HP:0012364	Decreased urinary potassium
ORPHA:79102	GABRA3	2556	HP:0003552	Muscle stiffness
ORPHA:79102	GABRA3	2556	HP:0012726	Episodic hypokalemia
ORPHA:79102	GABRA3	2556	HP:0100647	Graves disease
ORPHA:79102	GABRA3	2556	HP:0001824	Weight loss
ORPHA:79102	GABRA3	2556	HP:0011785	Thyrotoxicosis with toxic multinodular goitre
ORPHA:79102	GABRA3	2556	HP:0001962	Palpitations
ORPHA:79102	GABRA3	2556	HP:0009020	Exercise-induced muscle fatigue
ORPHA:79102	GABRA3	2556	HP:0002445	Tetraplegia
ORPHA:79102	GABRA3	2556	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:79102	GABRA3	2556	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
ORPHA:79102	GABRA3	2556	HP:0008153	Periodic hypokalemic paresis
ORPHA:79102	GABRA3	2556	HP:0000016	Urinary retention
ORPHA:79102	GABRA3	2556	HP:0001337	Tremor
ORPHA:79102	GABRA3	2556	HP:0001265	Hyporeflexia
ORPHA:79102	GABRA3	2556	HP:0001513	Obesity
OMIM:615510	GMPPA	29926	HP:0002015	Dysphagia
OMIM:615510	GMPPA	29926	HP:0002459	Dysautonomia
OMIM:615510	GMPPA	29926	HP:0011968	Feeding difficulties
OMIM:615510	GMPPA	29926	HP:0000522	Alacrima
OMIM:615510	GMPPA	29926	HP:0000007	Autosomal recessive inheritance
OMIM:615510	GMPPA	29926	HP:0001263	Global developmental delay
OMIM:615510	GMPPA	29926	HP:0001249	Intellectual disability
OMIM:615510	GMPPA	29926	HP:0002571	Achalasia
ORPHA:965	ABCC9	10060	HP:0004493	Craniofacial hyperostosis
ORPHA:965	ABCC9	10060	HP:0000232	Everted lower lip vermilion
ORPHA:965	ABCC9	10060	HP:0003189	Long nose
ORPHA:965	ABCC9	10060	HP:0000179	Thick lower lip vermilion
ORPHA:965	ABCC9	10060	HP:0002553	Highly arched eyebrow
ORPHA:965	ABCC9	10060	HP:0000581	Blepharophimosis
ORPHA:965	ABCC9	10060	HP:0000414	Bulbous nose
ORPHA:965	ABCC9	10060	HP:0009928	Thick nasal alae
ORPHA:965	ABCC9	10060	HP:0000347	Micrognathia
ORPHA:965	ABCC9	10060	HP:0001256	Intellectual disability, mild
ORPHA:965	ABCC9	10060	HP:0000574	Thick eyebrow
ORPHA:965	ABCC9	10060	HP:0005692	Joint hyperflexibility
ORPHA:965	ABCC9	10060	HP:0000158	Macroglossia
ORPHA:965	ABCC9	10060	HP:0000316	Hypertelorism
ORPHA:965	ABCC9	10060	HP:0000340	Sloping forehead
ORPHA:965	ABCC9	10060	HP:0000664	Synophrys
ORPHA:965	ABCC9	10060	HP:0001176	Large hands
ORPHA:965	ABCC9	10060	HP:0001072	Thickened skin
ORPHA:965	ABCC9	10060	HP:0000280	Coarse facial features
ORPHA:965	ABCC9	10060	HP:0100540	Palpebral edema
ORPHA:965	ABCC9	10060	HP:0001163	Abnormality of the metacarpal bones
ORPHA:965	ABCC9	10060	HP:0000212	Gingival overgrowth
ORPHA:1860	FGFR3	2261	HP:0002119	Ventriculomegaly
ORPHA:1860	FGFR3	2261	HP:0010880	Increased nuchal translucency
ORPHA:1860	FGFR3	2261	HP:0000256	Macrocephaly
ORPHA:1860	FGFR3	2261	HP:0000926	Platyspondyly
ORPHA:1860	FGFR3	2261	HP:0000365	Hearing impairment
ORPHA:1860	FGFR3	2261	HP:0008909	Lethal short-limbed short stature
ORPHA:1860	FGFR3	2261	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:1860	FGFR3	2261	HP:0000520	Proptosis
ORPHA:1860	FGFR3	2261	HP:0001156	Brachydactyly
ORPHA:1860	FGFR3	2261	HP:0000260	Wide anterior fontanel
ORPHA:1860	FGFR3	2261	HP:0012368	Flat face
ORPHA:1860	FGFR3	2261	HP:0001561	Polyhydramnios
ORPHA:1860	FGFR3	2261	HP:0002093	Respiratory insufficiency
ORPHA:1860	FGFR3	2261	HP:0001252	Muscular hypotonia
ORPHA:1860	FGFR3	2261	HP:0002808	Kyphosis
ORPHA:1860	FGFR3	2261	HP:0002983	Micromelia
ORPHA:1860	FGFR3	2261	HP:0001582	Redundant skin
ORPHA:1860	FGFR3	2261	HP:0002980	Femoral bowing
ORPHA:1860	FGFR3	2261	HP:0003097	Short femur
ORPHA:1860	FGFR3	2261	HP:0002187	Intellectual disability, profound
ORPHA:1860	FGFR3	2261	HP:0005280	Depressed nasal bridge
ORPHA:1860	FGFR3	2261	HP:0000946	Hypoplastic ilia
ORPHA:1860	FGFR3	2261	HP:0007392	Excessive wrinkled skin
ORPHA:1860	FGFR3	2261	HP:0000774	Narrow chest
ORPHA:1860	FGFR3	2261	HP:0002652	Skeletal dysplasia
ORPHA:1860	FGFR3	2261	HP:0000944	Abnormality of the metaphysis
ORPHA:1860	FGFR3	2261	HP:0001171	Split hand
ORPHA:1860	FGFR3	2261	HP:0002007	Frontal bossing
ORPHA:1860	FGFR3	2261	HP:0003185	Short sacroiliac notch
OMIM:615419	NALCN	259232	HP:0001347	Hyperreflexia
OMIM:615419	NALCN	259232	HP:0011220	Prominent forehead
OMIM:615419	NALCN	259232	HP:0000648	Optic atrophy
OMIM:615419	NALCN	259232	HP:0000639	Nystagmus
OMIM:615419	NALCN	259232	HP:0000007	Autosomal recessive inheritance
OMIM:615419	NALCN	259232	HP:0000417	Slender nose
OMIM:615419	NALCN	259232	HP:0002020	Gastroesophageal reflux
OMIM:615419	NALCN	259232	HP:0000325	Triangular face
OMIM:615419	NALCN	259232	HP:0000486	Strabismus
OMIM:615419	NALCN	259232	HP:0000248	Brachycephaly
OMIM:615419	NALCN	259232	HP:0003196	Short nose
OMIM:615419	NALCN	259232	HP:0000252	Microcephaly
OMIM:615419	NALCN	259232	HP:0000319	Smooth philtrum
OMIM:615419	NALCN	259232	HP:0000154	Wide mouth
OMIM:615419	NALCN	259232	HP:0000817	Poor eye contact
OMIM:615419	NALCN	259232	HP:0002019	Constipation
OMIM:615419	NALCN	259232	HP:0007256	Abnormal pyramidal signs
OMIM:615419	NALCN	259232	HP:0000219	Thin upper lip vermilion
OMIM:615419	NALCN	259232	HP:0000768	Pectus carinatum
OMIM:615419	NALCN	259232	HP:0003676	Progressive
OMIM:615419	NALCN	259232	HP:0008897	Postnatal growth retardation
OMIM:615419	NALCN	259232	HP:0008936	Muscular hypotonia of the trunk
OMIM:615419	NALCN	259232	HP:0001250	Seizures
OMIM:615419	NALCN	259232	HP:0003431	Decreased motor nerve conduction velocity
OMIM:615419	NALCN	259232	HP:0000028	Cryptorchidism
OMIM:615419	NALCN	259232	HP:0000400	Macrotia
OMIM:615419	NALCN	259232	HP:0001263	Global developmental delay
OMIM:615419	NALCN	259232	HP:0002510	Spastic tetraplegia
OMIM:615419	NALCN	259232	HP:0011968	Feeding difficulties
OMIM:615419	NALCN	259232	HP:0000347	Micrognathia
OMIM:615419	NALCN	259232	HP:0000369	Low-set ears
OMIM:615419	NALCN	259232	HP:0003202	Skeletal muscle atrophy
OMIM:615419	NALCN	259232	HP:0002650	Scoliosis
OMIM:605355	TNNT1	7138	HP:0003323	Progressive muscle weakness
OMIM:605355	TNNT1	7138	HP:0003803	Type 1 muscle fiber predominance
OMIM:605355	TNNT1	7138	HP:0002093	Respiratory insufficiency
OMIM:605355	TNNT1	7138	HP:0003798	Nemaline bodies
OMIM:605355	TNNT1	7138	HP:0000768	Pectus carinatum
OMIM:605355	TNNT1	7138	HP:0007126	Proximal amyotrophy
OMIM:605355	TNNT1	7138	HP:0000007	Autosomal recessive inheritance
OMIM:605355	TNNT1	7138	HP:0001547	Abnormality of the rib cage
OMIM:605355	TNNT1	7138	HP:0002194	Delayed gross motor development
OMIM:605355	TNNT1	7138	HP:0003198	Myopathy
OMIM:605355	TNNT1	7138	HP:0003044	Shoulder flexion contracture
OMIM:605355	TNNT1	7138	HP:0001337	Tremor
OMIM:605355	TNNT1	7138	HP:0002063	Rigidity
OMIM:605355	TNNT1	7138	HP:0003184	Decreased hip abduction
OMIM:605355	TNNT1	7138	HP:0003593	Infantile onset
OMIM:605355	TNNT1	7138	HP:0003273	Hip contracture
OMIM:313500	EDA	1896	HP:0001423	X-linked dominant inheritance
OMIM:313500	EDA	1896	HP:0000668	Hypodontia
OMIM:313500	EDA	1896	HP:0000677	Oligodontia
OMIM:616059	DNAL4	10126	HP:0001335	Bimanual synkinesia
OMIM:616059	DNAL4	10126	HP:0000007	Autosomal recessive inheritance
OMIM:601098	LITAF	9516	HP:0000006	Autosomal dominant inheritance
OMIM:601098	LITAF	9516	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601098	LITAF	9516	HP:0002936	Distal sensory impairment
OMIM:601098	LITAF	9516	HP:0003383	Onion bulb formation
OMIM:601098	LITAF	9516	HP:0001265	Hyporeflexia
OMIM:601098	LITAF	9516	HP:0003621	Juvenile onset
OMIM:601098	LITAF	9516	HP:0003382	Hypertrophic nerve changes
OMIM:601098	LITAF	9516	HP:0001761	Pes cavus
OMIM:601098	LITAF	9516	HP:0002460	Distal muscle weakness
OMIM:601098	LITAF	9516	HP:0001425	Heterogeneous
OMIM:601098	LITAF	9516	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:601098	LITAF	9516	HP:0003693	Distal amyotrophy
OMIM:613677	KCNJ5	3762	HP:0008221	Adrenal hyperplasia
OMIM:613677	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613677	KCNJ5	3762	HP:0000822	Hypertension
OMIM:613677	KCNJ5	3762	HP:0003351	Decreased circulating renin level
OMIM:613677	KCNJ5	3762	HP:0000859	Hyperaldosteronism
OMIM:613677	KCNJ5	3762	HP:0002900	Hypokalemia
OMIM:617241	NSMCE3	56160	HP:0000007	Autosomal recessive inheritance
OMIM:617241	NSMCE3	56160	HP:0000964	Eczema
OMIM:617241	NSMCE3	56160	HP:0001508	Failure to thrive
OMIM:617241	NSMCE3	56160	HP:0002097	Emphysema
OMIM:617241	NSMCE3	56160	HP:0008936	Muscular hypotonia of the trunk
OMIM:617241	NSMCE3	56160	HP:0011946	Bronchiolitis obliterans
OMIM:617241	NSMCE3	56160	HP:0011342	Mild global developmental delay
OMIM:617241	NSMCE3	56160	HP:0000260	Wide anterior fontanel
OMIM:617241	NSMCE3	56160	HP:0000777	Abnormality of the thymus
OMIM:617241	NSMCE3	56160	HP:0011968	Feeding difficulties
ORPHA:65285	PTEN	5728	HP:0000256	Macrocephaly
ORPHA:65285	PTEN	5728	HP:0100615	Ovarian neoplasm
ORPHA:65285	PTEN	5728	HP:0012081	Enlarged cerebellum
ORPHA:65285	PTEN	5728	HP:0012844	Trichilemmoma
ORPHA:65285	PTEN	5728	HP:0000158	Macroglossia
ORPHA:65285	PTEN	5728	HP:0001251	Ataxia
ORPHA:65285	PTEN	5728	HP:0002516	Increased intracranial pressure
ORPHA:65285	PTEN	5728	HP:0010619	Fibroadenoma of the breast
ORPHA:65285	PTEN	5728	HP:0200016	Acrokeratosis
ORPHA:65285	PTEN	5728	HP:0000238	Hydrocephalus
ORPHA:65285	PTEN	5728	HP:0001161	Hand polydactyly
ORPHA:65285	PTEN	5728	HP:0001250	Seizures
ORPHA:65285	PTEN	5728	HP:0100031	Neoplasm of the thyroid gland
ORPHA:65285	PTEN	5728	HP:0002126	Polymicrogyria
ORPHA:65285	PTEN	5728	HP:0002315	Headache
ORPHA:65285	PTEN	5728	HP:0002017	Nausea and vomiting
ORPHA:65285	PTEN	5728	HP:0200034	Papule
ORPHA:65285	PTEN	5728	HP:0006824	Cranial nerve paralysis
OMIM:616033	TRMT10A	93587	HP:0000252	Microcephaly
OMIM:616033	TRMT10A	93587	HP:0001249	Intellectual disability
OMIM:616033	TRMT10A	93587	HP:0000445	Wide nose
OMIM:616033	TRMT10A	93587	HP:0000007	Autosomal recessive inheritance
OMIM:616033	TRMT10A	93587	HP:0001270	Motor delay
OMIM:616033	TRMT10A	93587	HP:0000470	Short neck
OMIM:616033	TRMT10A	93587	HP:0004322	Short stature
OMIM:264470	ACOX1	51	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:264470	ACOX1	51	HP:0001332	Dystonia
OMIM:264470	ACOX1	51	HP:0000316	Hypertelorism
OMIM:264470	ACOX1	51	HP:0001276	Hypertonia
OMIM:264470	ACOX1	51	HP:0003487	Babinski sign
OMIM:264470	ACOX1	51	HP:0000486	Strabismus
OMIM:264470	ACOX1	51	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:264470	ACOX1	51	HP:0000580	Pigmentary retinopathy
OMIM:264470	ACOX1	51	HP:0003186	Inverted nipples
OMIM:264470	ACOX1	51	HP:0000007	Autosomal recessive inheritance
OMIM:264470	ACOX1	51	HP:0000737	Irritability
OMIM:264470	ACOX1	51	HP:0002376	Developmental regression
OMIM:264470	ACOX1	51	HP:0002415	Leukodystrophy
OMIM:264470	ACOX1	51	HP:0002007	Frontal bossing
OMIM:264470	ACOX1	51	HP:0000369	Low-set ears
OMIM:264470	ACOX1	51	HP:0000648	Optic atrophy
OMIM:264470	ACOX1	51	HP:0002240	Hepatomegaly
OMIM:264470	ACOX1	51	HP:0011344	Severe global developmental delay
OMIM:264470	ACOX1	51	HP:0000248	Brachycephaly
OMIM:264470	ACOX1	51	HP:0003593	Infantile onset
OMIM:264470	ACOX1	51	HP:0002910	Elevated hepatic transaminases
OMIM:264470	ACOX1	51	HP:0008763	No social interaction
OMIM:264470	ACOX1	51	HP:0002015	Dysphagia
OMIM:264470	ACOX1	51	HP:0006887	Intellectual disability, progressive
OMIM:264470	ACOX1	51	HP:0001250	Seizures
OMIM:264470	ACOX1	51	HP:0000639	Nystagmus
OMIM:264470	ACOX1	51	HP:0001319	Neonatal hypotonia
OMIM:264470	ACOX1	51	HP:0010864	Intellectual disability, severe
OMIM:264470	ACOX1	51	HP:0006555	Diffuse hepatic steatosis
OMIM:264470	ACOX1	51	HP:0000547	Tapetoretinal degeneration
OMIM:264470	ACOX1	51	HP:0007305	CNS demyelination
OMIM:264470	ACOX1	51	HP:0005280	Depressed nasal bridge
OMIM:264470	ACOX1	51	HP:0000431	Wide nasal bridge
OMIM:610202	MAF	4094	HP:0007780	Cortical pulverulent cataract
OMIM:610202	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:610202	MAF	4094	HP:0000612	Iris coloboma
OMIM:610202	MAF	4094	HP:0007976	Cerulean cataract
OMIM:610202	MAF	4094	HP:0000482	Microcornea
ORPHA:627	NHS	4810	HP:0000426	Prominent nasal bridge
ORPHA:627	NHS	4810	HP:0011069	Increased number of teeth
ORPHA:627	NHS	4810	HP:0001249	Intellectual disability
ORPHA:627	NHS	4810	HP:0000276	Long face
ORPHA:627	NHS	4810	HP:0000639	Nystagmus
ORPHA:627	NHS	4810	HP:0000486	Strabismus
ORPHA:627	NHS	4810	HP:0000505	Visual impairment
ORPHA:627	NHS	4810	HP:0000572	Visual loss
ORPHA:627	NHS	4810	HP:0000482	Microcornea
ORPHA:627	NHS	4810	HP:0000303	Mandibular prognathia
ORPHA:627	NHS	4810	HP:0010049	Short metacarpal
ORPHA:627	NHS	4810	HP:0000448	Prominent nose
ORPHA:627	NHS	4810	HP:0000518	Cataract
ORPHA:627	NHS	4810	HP:0000411	Protruding ear
OMIM:201250	GDF5	8200	HP:0002984	Hypoplasia of the radius
OMIM:201250	GDF5	8200	HP:0001773	Short foot
OMIM:201250	GDF5	8200	HP:0006011	Cuboidal metacarpal
OMIM:201250	GDF5	8200	HP:0006014	Abnormally shaped carpal bones
OMIM:201250	GDF5	8200	HP:0003022	Hypoplasia of the ulna
OMIM:201250	GDF5	8200	HP:0006144	Shortening of all proximal phalanges of the fingers
OMIM:201250	GDF5	8200	HP:0009778	Short thumb
OMIM:201250	GDF5	8200	HP:0002827	Hip dislocation
OMIM:201250	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:201250	GDF5	8200	HP:0000954	Single transverse palmar crease
OMIM:201250	GDF5	8200	HP:0003042	Elbow dislocation
OMIM:201250	GDF5	8200	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:201250	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:201250	GDF5	8200	HP:0005096	Distal femoral bowing
OMIM:201250	GDF5	8200	HP:0003086	Acromesomelia
OMIM:201250	GDF5	8200	HP:0002986	Radial bowing
OMIM:201250	GDF5	8200	HP:0008890	Severe short-limb dwarfism
OMIM:201250	GDF5	8200	HP:0005736	Short tibia
ORPHA:79435	SLC45A2	51151	HP:0001072	Thickened skin
ORPHA:79435	SLC45A2	51151	HP:0001022	Albinism
ORPHA:79435	SLC45A2	51151	HP:0007730	Iris hypopigmentation
ORPHA:79435	SLC45A2	51151	HP:0000486	Strabismus
ORPHA:79435	SLC45A2	51151	HP:0000587	Abnormality of the optic nerve
ORPHA:79435	SLC45A2	51151	HP:0000639	Nystagmus
ORPHA:79435	SLC45A2	51151	HP:0000505	Visual impairment
ORPHA:79435	SLC45A2	51151	HP:0000613	Photophobia
OMIM:275400	PNPLA6	10908	HP:0003477	Peripheral axonal neuropathy
OMIM:275400	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:275400	PNPLA6	10908	HP:0007818	Central heterochromia
OMIM:275400	PNPLA6	10908	HP:0000028	Cryptorchidism
OMIM:275400	PNPLA6	10908	HP:0001249	Intellectual disability
OMIM:275400	PNPLA6	10908	HP:0001518	Small for gestational age
OMIM:275400	PNPLA6	10908	HP:0001146	Pigmentary retinal degeneration
OMIM:275400	PNPLA6	10908	HP:0004523	Long eyebrows
OMIM:275400	PNPLA6	10908	HP:0000823	Delayed puberty
OMIM:275400	PNPLA6	10908	HP:0000527	Long eyelashes
OMIM:275400	PNPLA6	10908	HP:0002460	Distal muscle weakness
OMIM:275400	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:275400	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:275400	PNPLA6	10908	HP:0000824	Growth hormone deficiency
OMIM:275400	PNPLA6	10908	HP:0000639	Nystagmus
OMIM:275400	PNPLA6	10908	HP:0003510	Severe short stature
OMIM:275400	PNPLA6	10908	HP:0008736	Hypoplasia of penis
OMIM:615889	AARS2	57505	HP:0001260	Dysarthria
OMIM:615889	AARS2	57505	HP:0002180	Neurodegeneration
OMIM:615889	AARS2	57505	HP:0000007	Autosomal recessive inheritance
OMIM:615889	AARS2	57505	HP:0000726	Dementia
OMIM:615889	AARS2	57505	HP:0006970	Periventricular leukomalacia
OMIM:615889	AARS2	57505	HP:0002186	Apraxia
OMIM:615889	AARS2	57505	HP:0001332	Dystonia
OMIM:615889	AARS2	57505	HP:0008209	Premature ovarian insufficiency
OMIM:615889	AARS2	57505	HP:0001337	Tremor
OMIM:615889	AARS2	57505	HP:0000639	Nystagmus
OMIM:615889	AARS2	57505	HP:0001257	Spasticity
OMIM:615889	AARS2	57505	HP:0003676	Progressive
OMIM:615889	AARS2	57505	HP:0002371	Loss of speech
OMIM:615889	AARS2	57505	HP:0000716	Depressivity
OMIM:615889	AARS2	57505	HP:0006980	Progressive leukoencephalopathy
OMIM:615889	AARS2	57505	HP:0001251	Ataxia
ORPHA:2050	P4HB	5034	HP:0001608	Abnormality of the voice
ORPHA:2050	P4HB	5034	HP:0001252	Muscular hypotonia
ORPHA:2050	P4HB	5034	HP:0000520	Proptosis
ORPHA:2050	P4HB	5034	HP:0002652	Skeletal dysplasia
ORPHA:2050	P4HB	5034	HP:0000682	Abnormality of dental enamel
ORPHA:2050	P4HB	5034	HP:0000772	Abnormality of the ribs
ORPHA:2050	P4HB	5034	HP:0002007	Frontal bossing
ORPHA:2050	P4HB	5034	HP:0011800	Midface retrusion
ORPHA:2050	P4HB	5034	HP:0001511	Intrauterine growth retardation
ORPHA:2050	P4HB	5034	HP:0002808	Kyphosis
ORPHA:2050	P4HB	5034	HP:0000944	Abnormality of the metaphysis
ORPHA:2050	P4HB	5034	HP:0000347	Micrognathia
ORPHA:2050	P4HB	5034	HP:0006367	Crumpled long bones
ORPHA:2050	P4HB	5034	HP:0004322	Short stature
ORPHA:2050	P4HB	5034	HP:0000592	Blue sclerae
ORPHA:2050	P4HB	5034	HP:0002757	Recurrent fractures
ORPHA:2050	P4HB	5034	HP:0000684	Delayed eruption of teeth
ORPHA:2050	P4HB	5034	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2050	P4HB	5034	HP:0002645	Wormian bones
ORPHA:2050	P4HB	5034	HP:0001334	Communicating hydrocephalus
ORPHA:2050	P4HB	5034	HP:0002650	Scoliosis
ORPHA:2050	P4HB	5034	HP:0006487	Bowing of the long bones
ORPHA:2050	P4HB	5034	HP:0000262	Turricephaly
ORPHA:2050	SEC24D	9871	HP:0001608	Abnormality of the voice
ORPHA:2050	SEC24D	9871	HP:0001252	Muscular hypotonia
ORPHA:2050	SEC24D	9871	HP:0000520	Proptosis
ORPHA:2050	SEC24D	9871	HP:0002652	Skeletal dysplasia
ORPHA:2050	SEC24D	9871	HP:0000682	Abnormality of dental enamel
ORPHA:2050	SEC24D	9871	HP:0000772	Abnormality of the ribs
ORPHA:2050	SEC24D	9871	HP:0002007	Frontal bossing
ORPHA:2050	SEC24D	9871	HP:0011800	Midface retrusion
ORPHA:2050	SEC24D	9871	HP:0001511	Intrauterine growth retardation
ORPHA:2050	SEC24D	9871	HP:0002808	Kyphosis
ORPHA:2050	SEC24D	9871	HP:0000944	Abnormality of the metaphysis
ORPHA:2050	SEC24D	9871	HP:0000347	Micrognathia
ORPHA:2050	SEC24D	9871	HP:0006367	Crumpled long bones
ORPHA:2050	SEC24D	9871	HP:0004322	Short stature
ORPHA:2050	SEC24D	9871	HP:0000592	Blue sclerae
ORPHA:2050	SEC24D	9871	HP:0002757	Recurrent fractures
ORPHA:2050	SEC24D	9871	HP:0000684	Delayed eruption of teeth
ORPHA:2050	SEC24D	9871	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2050	SEC24D	9871	HP:0002645	Wormian bones
ORPHA:2050	SEC24D	9871	HP:0001334	Communicating hydrocephalus
ORPHA:2050	SEC24D	9871	HP:0002650	Scoliosis
ORPHA:2050	SEC24D	9871	HP:0006487	Bowing of the long bones
ORPHA:2050	SEC24D	9871	HP:0000262	Turricephaly
OMIM:610250	REEP1	65055	HP:0011448	Ankle clonus
OMIM:610250	REEP1	65055	HP:0001260	Dysarthria
OMIM:610250	REEP1	65055	HP:0001258	Spastic paraplegia
OMIM:610250	REEP1	65055	HP:0002064	Spastic gait
OMIM:610250	REEP1	65055	HP:0003487	Babinski sign
OMIM:610250	REEP1	65055	HP:0003202	Skeletal muscle atrophy
OMIM:610250	REEP1	65055	HP:0003828	Variable expressivity
OMIM:610250	REEP1	65055	HP:0002936	Distal sensory impairment
OMIM:610250	REEP1	65055	HP:0007340	Lower limb muscle weakness
OMIM:610250	REEP1	65055	HP:0000006	Autosomal dominant inheritance
OMIM:609200	MYOT	9499	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
OMIM:609200	MYOT	9499	HP:0009063	Progressive distal muscle weakness
OMIM:609200	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609200	MYOT	9499	HP:0003693	Distal amyotrophy
OMIM:609200	MYOT	9499	HP:0003715	Myofibrillar myopathy
OMIM:609200	MYOT	9499	HP:0002600	Hyporeflexia of lower limbs
OMIM:609200	MYOT	9499	HP:0001271	Polyneuropathy
OMIM:609200	MYOT	9499	HP:0001771	Achilles tendon contracture
OMIM:609200	MYOT	9499	HP:0003677	Slow progression
OMIM:609200	MYOT	9499	HP:0001284	Areflexia
OMIM:609200	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:609200	MYOT	9499	HP:0003701	Proximal muscle weakness
OMIM:609200	MYOT	9499	HP:0003326	Myalgia
OMIM:609200	MYOT	9499	HP:0001638	Cardiomyopathy
OMIM:609200	MYOT	9499	HP:0003552	Muscle stiffness
OMIM:609200	MYOT	9499	HP:0003581	Adult onset
OMIM:610244	ZFYVE27	118813	HP:0000006	Autosomal dominant inheritance
OMIM:610244	ZFYVE27	118813	HP:0001762	Talipes equinovarus
OMIM:610244	ZFYVE27	118813	HP:0007340	Lower limb muscle weakness
OMIM:610244	ZFYVE27	118813	HP:0011448	Ankle clonus
OMIM:610244	ZFYVE27	118813	HP:0003487	Babinski sign
OMIM:610244	ZFYVE27	118813	HP:0001258	Spastic paraplegia
OMIM:610244	ZFYVE27	118813	HP:0002061	Lower limb spasticity
OMIM:610244	ZFYVE27	118813	HP:0002064	Spastic gait
OMIM:614814	RBPJ	3516	HP:0001057	Aplasia cutis congenita
OMIM:614814	RBPJ	3516	HP:0009882	Short distal phalanx of finger
OMIM:614814	RBPJ	3516	HP:0010743	Short metatarsal
OMIM:614814	RBPJ	3516	HP:0000006	Autosomal dominant inheritance
OMIM:614814	RBPJ	3516	HP:0010760	Absent toe
OMIM:614814	RBPJ	3516	HP:0000252	Microcephaly
OMIM:614814	RBPJ	3516	HP:0004691	2-3 toe syndactyly
OMIM:615706	EDN1	1906	HP:0000007	Autosomal recessive inheritance
OMIM:615706	EDN1	1906	HP:0000162	Glossoptosis
OMIM:615706	EDN1	1906	HP:0030022	Question mark ear
OMIM:615706	EDN1	1906	HP:0000293	Full cheeks
OMIM:615706	EDN1	1906	HP:0000193	Bifid uvula
OMIM:615706	EDN1	1906	HP:0008751	Laryngeal cleft
OMIM:615706	EDN1	1906	HP:0000278	Retrognathia
OMIM:615706	EDN1	1906	HP:0000347	Micrognathia
ORPHA:198	ATP7A	538	HP:0000974	Hyperextensible skin
ORPHA:198	ATP7A	538	HP:0000239	Large fontanelles
ORPHA:198	ATP7A	538	HP:0002617	Dilatation
ORPHA:198	ATP7A	538	HP:0100777	Exostoses
ORPHA:198	ATP7A	538	HP:0001249	Intellectual disability
ORPHA:198	ATP7A	538	HP:0004408	Abnormality of the sense of smell
ORPHA:198	ATP7A	538	HP:0000952	Jaundice
ORPHA:198	ATP7A	538	HP:0100633	Esophagitis
ORPHA:198	ATP7A	538	HP:0002514	Cerebral calcification
ORPHA:198	ATP7A	538	HP:0000939	Osteoporosis
ORPHA:198	ATP7A	538	HP:0000767	Pectus excavatum
ORPHA:198	ATP7A	538	HP:0002578	Gastroparesis
ORPHA:198	ATP7A	538	HP:0000938	Osteopenia
ORPHA:198	ATP7A	538	HP:0002020	Gastroesophageal reflux
ORPHA:198	ATP7A	538	HP:0004279	Short palm
ORPHA:198	ATP7A	538	HP:0002749	Osteomalacia
ORPHA:198	ATP7A	538	HP:0001328	Specific learning disability
ORPHA:198	ATP7A	538	HP:0002015	Dysphagia
ORPHA:198	ATP7A	538	HP:0002036	Hiatus hernia
ORPHA:198	ATP7A	538	HP:0000978	Bruising susceptibility
ORPHA:198	ATP7A	538	HP:0002033	Poor suck
ORPHA:198	ATP7A	538	HP:0003019	Abnormality of the wrist
ORPHA:198	ATP7A	538	HP:0005293	Venous insufficiency
ORPHA:198	ATP7A	538	HP:0000768	Pectus carinatum
ORPHA:198	ATP7A	538	HP:0002748	Rickets
ORPHA:198	ATP7A	538	HP:0000343	Long philtrum
ORPHA:198	ATP7A	538	HP:0002705	High, narrow palate
ORPHA:198	ATP7A	538	HP:0000270	Delayed cranial suture closure
ORPHA:198	ATP7A	538	HP:0012115	Hepatitis
ORPHA:198	ATP7A	538	HP:0001252	Muscular hypotonia
ORPHA:198	ATP7A	538	HP:0010562	Keloids
ORPHA:198	ATP7A	538	HP:0005692	Joint hyperflexibility
ORPHA:198	ATP7A	538	HP:0001263	Global developmental delay
ORPHA:198	ATP7A	538	HP:0000926	Platyspondyly
ORPHA:198	ATP7A	538	HP:0001156	Brachydactyly
ORPHA:198	ATP7A	538	HP:0002045	Hypothermia
ORPHA:198	ATP7A	538	HP:0100240	Synostosis of joints
OMIM:603284	CCM2	83605	HP:0001342	Cerebral hemorrhage
OMIM:603284	CCM2	83605	HP:0001009	Telangiectasia
OMIM:603284	CCM2	83605	HP:0001250	Seizures
OMIM:603284	CCM2	83605	HP:0001425	Heterogeneous
OMIM:603284	CCM2	83605	HP:0000006	Autosomal dominant inheritance
OMIM:603284	CCM2	83605	HP:0002315	Headache
OMIM:603284	CCM2	83605	HP:0001297	Stroke
ORPHA:46532	HBB	3043	HP:0001744	Splenomegaly
ORPHA:46532	HBB	3043	HP:0001903	Anemia
ORPHA:46532	HBB	3043	HP:0011904	Persistence of hemoglobin F
ORPHA:46532	HBB	3043	HP:0002240	Hepatomegaly
ORPHA:46532	HBB	3043	HP:0000980	Pallor
ORPHA:46532	HBB	3043	HP:0003330	Abnormal bone structure
ORPHA:46532	KLF1	10661	HP:0001744	Splenomegaly
ORPHA:46532	KLF1	10661	HP:0001903	Anemia
ORPHA:46532	KLF1	10661	HP:0011904	Persistence of hemoglobin F
ORPHA:46532	KLF1	10661	HP:0002240	Hepatomegaly
ORPHA:46532	KLF1	10661	HP:0000980	Pallor
ORPHA:46532	KLF1	10661	HP:0003330	Abnormal bone structure
ORPHA:46532	HBG1	3047	HP:0001744	Splenomegaly
ORPHA:46532	HBG1	3047	HP:0001903	Anemia
ORPHA:46532	HBG1	3047	HP:0011904	Persistence of hemoglobin F
ORPHA:46532	HBG1	3047	HP:0002240	Hepatomegaly
ORPHA:46532	HBG1	3047	HP:0000980	Pallor
ORPHA:46532	HBG1	3047	HP:0003330	Abnormal bone structure
ORPHA:46532	HBG2	3048	HP:0001744	Splenomegaly
ORPHA:46532	HBG2	3048	HP:0001903	Anemia
ORPHA:46532	HBG2	3048	HP:0011904	Persistence of hemoglobin F
ORPHA:46532	HBG2	3048	HP:0002240	Hepatomegaly
ORPHA:46532	HBG2	3048	HP:0000980	Pallor
ORPHA:46532	HBG2	3048	HP:0003330	Abnormal bone structure
OMIM:232800	PFKM	5213	HP:0003828	Variable expressivity
OMIM:232800	PFKM	5213	HP:0003573	Increased total bilirubin
OMIM:232800	PFKM	5213	HP:0001923	Reticulocytosis
OMIM:232800	PFKM	5213	HP:0000952	Jaundice
OMIM:232800	PFKM	5213	HP:0001324	Muscle weakness
OMIM:232800	PFKM	5213	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration
OMIM:232800	PFKM	5213	HP:0001878	Hemolytic anemia
OMIM:232800	PFKM	5213	HP:0009051	Increased muscle glycogen content
OMIM:232800	PFKM	5213	HP:0001997	Gout
OMIM:232800	PFKM	5213	HP:0000007	Autosomal recessive inheritance
OMIM:232800	PFKM	5213	HP:0001081	Cholelithiasis
OMIM:232800	PFKM	5213	HP:0003710	Exercise-induced muscle cramps
OMIM:232800	PFKM	5213	HP:0003546	Exercise intolerance
OMIM:232800	PFKM	5213	HP:0008305	Exercise-induced myoglobinuria
OMIM:181500	DISC2	27184	HP:0000006	Autosomal dominant inheritance
OMIM:181500	DISC2	27184	HP:0007086	Social and occupational deterioration
OMIM:181500	DISC2	27184	HP:0000738	Hallucinations
OMIM:181500	DISC2	27184	HP:0000746	Delusions
OMIM:181500	DISC2	27184	HP:0001425	Heterogeneous
OMIM:181500	DISC2	27184	HP:0100753	Schizophrenia
OMIM:614808	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PFN1	5216	HP:0001324	Muscle weakness
OMIM:614808	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PFN1	5216	HP:0002380	Fasciculations
OMIM:614808	PFN1	5216	HP:0001257	Spasticity
OMIM:614808	PFN1	5216	HP:0001260	Dysarthria
OMIM:614808	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PFN1	5216	HP:0002015	Dysphagia
OMIM:615770	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:615770	NUP155	9631	HP:0000007	Autosomal recessive inheritance
OMIM:615770	NUP155	9631	HP:0004749	Atrial flutter
OMIM:616914	FBN1	2200	HP:0000098	Tall stature
OMIM:616914	FBN1	2200	HP:0030799	Scaphocephaly
OMIM:616914	FBN1	2200	HP:0000256	Macrocephaly
OMIM:616914	FBN1	2200	HP:0011220	Prominent forehead
OMIM:616914	FBN1	2200	HP:0001363	Craniosynostosis
OMIM:616914	FBN1	2200	HP:0002616	Aortic root dilatation
OMIM:616914	FBN1	2200	HP:0002705	High, narrow palate
OMIM:616914	FBN1	2200	HP:0011003	Severe Myopia
OMIM:616914	FBN1	2200	HP:0001511	Intrauterine growth retardation
OMIM:616914	FBN1	2200	HP:0000978	Bruising susceptibility
OMIM:616914	FBN1	2200	HP:0000278	Retrognathia
OMIM:616914	FBN1	2200	HP:0000520	Proptosis
OMIM:616914	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:616914	FBN1	2200	HP:0000494	Downslanted palpebral fissures
OMIM:616914	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:616914	FBN1	2200	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:616914	FBN1	2200	HP:0100775	Dural ectasia
OMIM:616914	FBN1	2200	HP:0001622	Premature birth
OMIM:616914	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:616914	FBN1	2200	HP:0000426	Prominent nasal bridge
OMIM:616914	FBN1	2200	HP:0001187	Hyperextensibility of the finger joints
OMIM:616914	FBN1	2200	HP:0001763	Pes planus
OMIM:616914	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:616914	FBN1	2200	HP:0008081	Pes valgus
OMIM:616914	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:616914	FBN1	2200	HP:0000460	Narrow nose
OMIM:616914	FBN1	2200	HP:0001562	Oligohydramnios
OMIM:223360	DBH	1621	HP:0000508	Ptosis
OMIM:223360	DBH	1621	HP:0001998	Neonatal hypoglycemia
OMIM:223360	DBH	1621	HP:0005964	Intermittent hypothermia
OMIM:223360	DBH	1621	HP:0000007	Autosomal recessive inheritance
OMIM:223360	DBH	1621	HP:0000218	High palate
OMIM:223360	DBH	1621	HP:0001250	Seizures
OMIM:223360	DBH	1621	HP:0001278	Orthostatic hypotension
OMIM:223360	DBH	1621	HP:0012877	Retrograde ejaculation
OMIM:223360	DBH	1621	HP:0000017	Nocturia
OMIM:614562	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:614562	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:614562	ARID1B	57492	HP:0004322	Short stature
OMIM:614562	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614562	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:614562	ARID1B	57492	HP:0000219	Thin upper lip vermilion
OMIM:614562	ARID1B	57492	HP:0000414	Bulbous nose
OMIM:617395	COG2	22796	HP:0002910	Elevated hepatic transaminases
OMIM:617395	COG2	22796	HP:0005484	Postnatal microcephaly
OMIM:617395	COG2	22796	HP:0002510	Spastic tetraplegia
OMIM:617395	COG2	22796	HP:0003593	Infantile onset
OMIM:617395	COG2	22796	HP:0001250	Seizures
OMIM:617395	COG2	22796	HP:0000007	Autosomal recessive inheritance
OMIM:617395	COG2	22796	HP:0001263	Global developmental delay
OMIM:617395	COG2	22796	HP:0012506	Small pituitary gland
OMIM:617395	COG2	22796	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617395	COG2	22796	HP:0002506	Diffuse cerebral atrophy
OMIM:613670	FOXP1	27086	HP:0000278	Retrognathia
OMIM:613670	FOXP1	27086	HP:0000194	Open mouth
OMIM:613670	FOXP1	27086	HP:0000256	Macrocephaly
OMIM:613670	FOXP1	27086	HP:0002194	Delayed gross motor development
OMIM:613670	FOXP1	27086	HP:0000486	Strabismus
OMIM:613670	FOXP1	27086	HP:0000455	Broad nasal tip
OMIM:613670	FOXP1	27086	HP:0000494	Downslanted palpebral fissures
OMIM:613670	FOXP1	27086	HP:0000718	Aggressive behavior
OMIM:613670	FOXP1	27086	HP:0000316	Hypertelorism
OMIM:613670	FOXP1	27086	HP:0000733	Stereotypy
OMIM:613670	FOXP1	27086	HP:0001249	Intellectual disability
OMIM:613670	FOXP1	27086	HP:0000006	Autosomal dominant inheritance
OMIM:613670	FOXP1	27086	HP:0011220	Prominent forehead
OMIM:613670	FOXP1	27086	HP:0000752	Hyperactivity
OMIM:613670	FOXP1	27086	HP:0001290	Generalized hypotonia
OMIM:613670	FOXP1	27086	HP:0003196	Short nose
OMIM:613670	FOXP1	27086	HP:0000639	Nystagmus
OMIM:613670	FOXP1	27086	HP:0000750	Delayed speech and language development
OMIM:612350	SLC39A13	91252	HP:0000974	Hyperextensible skin
OMIM:612350	SLC39A13	91252	HP:0001388	Joint laxity
OMIM:612350	SLC39A13	91252	HP:0001015	Prominent superficial veins
OMIM:612350	SLC39A13	91252	HP:0000592	Blue sclerae
OMIM:612350	SLC39A13	91252	HP:0010049	Short metacarpal
OMIM:612350	SLC39A13	91252	HP:0000668	Hypodontia
OMIM:612350	SLC39A13	91252	HP:0003016	Metaphyseal widening
OMIM:612350	SLC39A13	91252	HP:0000494	Downslanted palpebral fissures
OMIM:612350	SLC39A13	91252	HP:0003370	Flat capital femoral epiphysis
OMIM:612350	SLC39A13	91252	HP:0008848	Moderately short stature
OMIM:612350	SLC39A13	91252	HP:0000684	Delayed eruption of teeth
OMIM:612350	SLC39A13	91252	HP:0000689	Dental malocclusion
OMIM:612350	SLC39A13	91252	HP:0000926	Platyspondyly
OMIM:612350	SLC39A13	91252	HP:0001073	Cigarette-paper scars
OMIM:612350	SLC39A13	91252	HP:0003393	Thenar muscle atrophy
OMIM:612350	SLC39A13	91252	HP:0009803	Short phalanx of finger
OMIM:612350	SLC39A13	91252	HP:0001763	Pes planus
OMIM:612350	SLC39A13	91252	HP:0002515	Waddling gait
OMIM:612350	SLC39A13	91252	HP:0000938	Osteopenia
OMIM:612350	SLC39A13	91252	HP:0001182	Tapered finger
OMIM:612350	SLC39A13	91252	HP:0000193	Bifid uvula
OMIM:612350	SLC39A13	91252	HP:0000963	Thin skin
OMIM:612350	SLC39A13	91252	HP:0100864	Short femoral neck
OMIM:612350	SLC39A13	91252	HP:0000978	Bruising susceptibility
OMIM:612350	SLC39A13	91252	HP:0100490	Camptodactyly of finger
OMIM:612350	SLC39A13	91252	HP:0000218	High palate
OMIM:612350	SLC39A13	91252	HP:0000007	Autosomal recessive inheritance
OMIM:612350	SLC39A13	91252	HP:0006429	Broad femoral neck
OMIM:612350	SLC39A13	91252	HP:0003301	Irregular vertebral endplates
ORPHA:2518	TUBGCP6	85378	HP:0000648	Optic atrophy
ORPHA:2518	TUBGCP6	85378	HP:0000252	Microcephaly
ORPHA:2518	TUBGCP6	85378	HP:0000463	Anteverted nares
ORPHA:2518	TUBGCP6	85378	HP:0000499	Abnormality of the eyelashes
ORPHA:2518	TUBGCP6	85378	HP:0001511	Intrauterine growth retardation
ORPHA:2518	TUBGCP6	85378	HP:0000639	Nystagmus
ORPHA:2518	TUBGCP6	85378	HP:0001249	Intellectual disability
ORPHA:2518	TUBGCP6	85378	HP:0002650	Scoliosis
ORPHA:2518	TUBGCP6	85378	HP:0000411	Protruding ear
ORPHA:2518	TUBGCP6	85378	HP:0002120	Cerebral cortical atrophy
ORPHA:2518	TUBGCP6	85378	HP:0002269	Abnormality of neuronal migration
ORPHA:2518	TUBGCP6	85378	HP:0001250	Seizures
ORPHA:2518	TUBGCP6	85378	HP:0004322	Short stature
ORPHA:2518	TUBGCP6	85378	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2518	TUBGCP6	85378	HP:0000340	Sloping forehead
ORPHA:2518	TUBGCP6	85378	HP:0000486	Strabismus
ORPHA:2518	TUBGCP6	85378	HP:0004422	Biparietal narrowing
ORPHA:2518	TUBGCP6	85378	HP:0001276	Hypertonia
ORPHA:2518	TUBGCP6	85378	HP:0000307	Pointed chin
ORPHA:2518	TUBGCP6	85378	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2518	TUBGCP6	85378	HP:0000431	Wide nasal bridge
ORPHA:2518	TUBGCP6	85378	HP:0000505	Visual impairment
ORPHA:2518	PLK4	10733	HP:0000648	Optic atrophy
ORPHA:2518	PLK4	10733	HP:0000252	Microcephaly
ORPHA:2518	PLK4	10733	HP:0000463	Anteverted nares
ORPHA:2518	PLK4	10733	HP:0000499	Abnormality of the eyelashes
ORPHA:2518	PLK4	10733	HP:0001511	Intrauterine growth retardation
ORPHA:2518	PLK4	10733	HP:0000639	Nystagmus
ORPHA:2518	PLK4	10733	HP:0001249	Intellectual disability
ORPHA:2518	PLK4	10733	HP:0002650	Scoliosis
ORPHA:2518	PLK4	10733	HP:0000411	Protruding ear
ORPHA:2518	PLK4	10733	HP:0002120	Cerebral cortical atrophy
ORPHA:2518	PLK4	10733	HP:0002269	Abnormality of neuronal migration
ORPHA:2518	PLK4	10733	HP:0001250	Seizures
ORPHA:2518	PLK4	10733	HP:0004322	Short stature
ORPHA:2518	PLK4	10733	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2518	PLK4	10733	HP:0000340	Sloping forehead
ORPHA:2518	PLK4	10733	HP:0000486	Strabismus
ORPHA:2518	PLK4	10733	HP:0004422	Biparietal narrowing
ORPHA:2518	PLK4	10733	HP:0001276	Hypertonia
ORPHA:2518	PLK4	10733	HP:0000307	Pointed chin
ORPHA:2518	PLK4	10733	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2518	PLK4	10733	HP:0000431	Wide nasal bridge
ORPHA:2518	PLK4	10733	HP:0000505	Visual impairment
ORPHA:2518	TUBGCP4	27229	HP:0000648	Optic atrophy
ORPHA:2518	TUBGCP4	27229	HP:0000252	Microcephaly
ORPHA:2518	TUBGCP4	27229	HP:0000463	Anteverted nares
ORPHA:2518	TUBGCP4	27229	HP:0000499	Abnormality of the eyelashes
ORPHA:2518	TUBGCP4	27229	HP:0001511	Intrauterine growth retardation
ORPHA:2518	TUBGCP4	27229	HP:0000639	Nystagmus
ORPHA:2518	TUBGCP4	27229	HP:0001249	Intellectual disability
ORPHA:2518	TUBGCP4	27229	HP:0002650	Scoliosis
ORPHA:2518	TUBGCP4	27229	HP:0000411	Protruding ear
ORPHA:2518	TUBGCP4	27229	HP:0002120	Cerebral cortical atrophy
ORPHA:2518	TUBGCP4	27229	HP:0002269	Abnormality of neuronal migration
ORPHA:2518	TUBGCP4	27229	HP:0001250	Seizures
ORPHA:2518	TUBGCP4	27229	HP:0004322	Short stature
ORPHA:2518	TUBGCP4	27229	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2518	TUBGCP4	27229	HP:0000340	Sloping forehead
ORPHA:2518	TUBGCP4	27229	HP:0000486	Strabismus
ORPHA:2518	TUBGCP4	27229	HP:0004422	Biparietal narrowing
ORPHA:2518	TUBGCP4	27229	HP:0001276	Hypertonia
ORPHA:2518	TUBGCP4	27229	HP:0000307	Pointed chin
ORPHA:2518	TUBGCP4	27229	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2518	TUBGCP4	27229	HP:0000431	Wide nasal bridge
ORPHA:2518	TUBGCP4	27229	HP:0000505	Visual impairment
OMIM:614501	SNIP1	79753	HP:0000414	Bulbous nose
OMIM:614501	SNIP1	79753	HP:0001263	Global developmental delay
OMIM:614501	SNIP1	79753	HP:0001537	Umbilical hernia
OMIM:614501	SNIP1	79753	HP:0002353	EEG abnormality
OMIM:614501	SNIP1	79753	HP:0012802	Broad jaw
OMIM:614501	SNIP1	79753	HP:0011968	Feeding difficulties
OMIM:614501	SNIP1	79753	HP:0000154	Wide mouth
OMIM:614501	SNIP1	79753	HP:0001290	Generalized hypotonia
OMIM:614501	SNIP1	79753	HP:0004279	Short palm
OMIM:614501	SNIP1	79753	HP:0001265	Hyporeflexia
OMIM:614501	SNIP1	79753	HP:0001650	Aortic valve stenosis
OMIM:614501	SNIP1	79753	HP:0001647	Bicuspid aortic valve
OMIM:614501	SNIP1	79753	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614501	SNIP1	79753	HP:0001182	Tapered finger
OMIM:614501	SNIP1	79753	HP:0001250	Seizures
OMIM:614501	SNIP1	79753	HP:0002119	Ventriculomegaly
OMIM:614501	SNIP1	79753	HP:0011304	Broad thumb
OMIM:614501	SNIP1	79753	HP:0001999	Abnormal facial shape
OMIM:614501	SNIP1	79753	HP:0000158	Macroglossia
OMIM:614501	SNIP1	79753	HP:0001607	Subglottic stenosis
OMIM:614501	SNIP1	79753	HP:0000486	Strabismus
OMIM:614501	SNIP1	79753	HP:0000007	Autosomal recessive inheritance
OMIM:614501	SNIP1	79753	HP:0003429	CNS hypomyelination
OMIM:614501	SNIP1	79753	HP:0000666	Horizontal nystagmus
OMIM:607822	PSEN1	5663	HP:0003678	Rapidly progressive
OMIM:607822	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:607822	PSEN1	5663	HP:0001336	Myoclonus
OMIM:607822	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:607822	PSEN1	5663	HP:0002186	Apraxia
OMIM:607822	PSEN1	5663	HP:0003581	Adult onset
OMIM:607822	PSEN1	5663	HP:0001285	Spastic tetraparesis
OMIM:607822	PSEN1	5663	HP:0000751	Personality changes
OMIM:607822	PSEN1	5663	HP:0002395	Lower limb hyperreflexia
OMIM:607822	PSEN1	5663	HP:0002511	Alzheimer disease
OMIM:607822	PSEN1	5663	HP:0000726	Dementia
OMIM:607822	PSEN1	5663	HP:0003487	Babinski sign
OMIM:607822	PSEN1	5663	HP:0002185	Neurofibrillary tangles
OMIM:607822	PSEN1	5663	HP:0001250	Seizures
OMIM:607822	PSEN1	5663	HP:0002354	Memory impairment
OMIM:607822	PSEN1	5663	HP:0001260	Dysarthria
OMIM:607822	PSEN1	5663	HP:0001332	Dystonia
OMIM:607822	PSEN1	5663	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:607822	PSEN1	5663	HP:0002015	Dysphagia
OMIM:607822	PSEN1	5663	HP:0001288	Gait disturbance
OMIM:615106	SDHD	6392	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	SDHD	6392	HP:0000131	Uterine leiomyoma
OMIM:615106	SDHD	6392	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	SDHD	6392	HP:0005584	Renal cell carcinoma
OMIM:125853	AKT2	208	HP:0000006	Autosomal dominant inheritance
OMIM:125853	AKT2	208	HP:0003584	Late onset
OMIM:125853	AKT2	208	HP:0000855	Insulin resistance
OMIM:125853	AKT2	208	HP:0005978	Type II diabetes mellitus
OMIM:125853	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:125853	HNF1B	6928	HP:0003584	Late onset
OMIM:125853	HNF1B	6928	HP:0000855	Insulin resistance
OMIM:125853	HNF1B	6928	HP:0005978	Type II diabetes mellitus
OMIM:125853	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:125853	ABCC8	6833	HP:0003584	Late onset
OMIM:125853	ABCC8	6833	HP:0000855	Insulin resistance
OMIM:125853	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:125853	PPP1R3A	5506	HP:0000006	Autosomal dominant inheritance
OMIM:125853	PPP1R3A	5506	HP:0003584	Late onset
OMIM:125853	PPP1R3A	5506	HP:0000855	Insulin resistance
OMIM:125853	PPP1R3A	5506	HP:0005978	Type II diabetes mellitus
OMIM:125853	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:125853	GCK	2645	HP:0003584	Late onset
OMIM:125853	GCK	2645	HP:0000855	Insulin resistance
OMIM:125853	GCK	2645	HP:0005978	Type II diabetes mellitus
OMIM:125853	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:125853	PAX4	5078	HP:0003584	Late onset
OMIM:125853	PAX4	5078	HP:0000855	Insulin resistance
OMIM:125853	PAX4	5078	HP:0005978	Type II diabetes mellitus
ORPHA:2089	GYS2	2998	HP:0001946	Ketosis
ORPHA:2089	GYS2	2998	HP:0000737	Irritability
ORPHA:2089	GYS2	2998	HP:0002919	Ketonuria
ORPHA:2089	GYS2	2998	HP:0011998	Postprandial hyperglycemia
ORPHA:2089	GYS2	2998	HP:0012734	Ketotic hypoglycemia
ORPHA:2089	GYS2	2998	HP:0003076	Glycosuria
ORPHA:77298	SOX2	6657	HP:0001274	Agenesis of corpus callosum
ORPHA:77298	SOX2	6657	HP:0002032	Esophageal atresia
ORPHA:77298	SOX2	6657	HP:0000028	Cryptorchidism
ORPHA:77298	SOX2	6657	HP:0000528	Anophthalmia
ORPHA:77298	SOX2	6657	HP:0000572	Visual loss
ORPHA:77298	SOX2	6657	HP:0000568	Microphthalmia
ORPHA:77298	SOX2	6657	HP:0002575	Tracheoesophageal fistula
ORPHA:77298	SOX2	6657	HP:0000365	Hearing impairment
ORPHA:2834	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
ORPHA:2834	ATP6V0A2	23545	HP:0006191	Deep palmar crease
ORPHA:2834	ATP6V0A2	23545	HP:0000684	Delayed eruption of teeth
ORPHA:2834	ATP6V0A2	23545	HP:0002133	Status epilepticus
ORPHA:2834	ATP6V0A2	23545	HP:0001511	Intrauterine growth retardation
ORPHA:2834	ATP6V0A2	23545	HP:0002761	Generalized joint laxity
ORPHA:2834	ATP6V0A2	23545	HP:0000319	Smooth philtrum
ORPHA:2834	ATP6V0A2	23545	HP:0002073	Progressive cerebellar ataxia
ORPHA:2834	ATP6V0A2	23545	HP:0001350	Slurred speech
ORPHA:2834	ATP6V0A2	23545	HP:0005272	Prominent nasolabial fold
ORPHA:2834	ATP6V0A2	23545	HP:0025167	Fragmented elastic fibers in the dermis
ORPHA:2834	ATP6V0A2	23545	HP:0000343	Long philtrum
ORPHA:2834	ATP6V0A2	23545	HP:0000218	High palate
ORPHA:2834	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
ORPHA:2834	ATP6V0A2	23545	HP:0000938	Osteopenia
ORPHA:2834	ATP6V0A2	23545	HP:0002812	Coxa vara
ORPHA:2834	ATP6V0A2	23545	HP:0001508	Failure to thrive
ORPHA:2834	ATP6V0A2	23545	HP:0011003	Severe Myopia
ORPHA:2834	ATP6V0A2	23545	HP:0004993	Slender long bones with narrow diaphyses
ORPHA:2834	ATP6V0A2	23545	HP:0000670	Carious teeth
ORPHA:2834	ATP6V0A2	23545	HP:0010838	High nonceruloplasmin-bound serum copper
ORPHA:2834	ATP6V0A2	23545	HP:0000767	Pectus excavatum
ORPHA:2834	ATP6V0A2	23545	HP:0007457	Prominent veins on trunk
ORPHA:2834	ATP6V0A2	23545	HP:0011995	Atrial septal dilatation
ORPHA:2834	ATP6V0A2	23545	HP:0003199	Decreased muscle mass
ORPHA:2834	ATP6V0A2	23545	HP:0006891	Thick cerebral cortex
ORPHA:2834	ATP6V0A2	23545	HP:0000253	Progressive microcephaly
ORPHA:2834	ATP6V0A2	23545	HP:0002751	Kyphoscoliosis
ORPHA:2834	ATP6V0A2	23545	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers
ORPHA:2834	ATP6V0A2	23545	HP:0000369	Low-set ears
ORPHA:2834	ATP6V0A2	23545	HP:0000973	Cutis laxa
ORPHA:2834	ATP6V0A2	23545	HP:0000286	Epicanthus
ORPHA:2834	ATP6V0A2	23545	HP:0001537	Umbilical hernia
ORPHA:2834	ATP6V0A2	23545	HP:0000316	Hypertelorism
ORPHA:2834	ATP6V0A2	23545	HP:0004426	Abnormality of the cheek
ORPHA:2834	ATP6V0A2	23545	HP:0008897	Postnatal growth retardation
ORPHA:2834	ATP6V0A2	23545	HP:0008947	Infantile muscular hypotonia
ORPHA:2834	ATP6V0A2	23545	HP:0000023	Inguinal hernia
ORPHA:2834	ATP6V0A2	23545	HP:0000750	Delayed speech and language development
ORPHA:2834	ATP6V0A2	23545	HP:0003160	Abnormal isoelectric focusing of serum transferrin
ORPHA:2834	ATP6V0A2	23545	HP:0005425	Recurrent sinopulmonary infections
ORPHA:2834	ATP6V0A2	23545	HP:0000455	Broad nasal tip
ORPHA:2834	ATP6V0A2	23545	HP:0001263	Global developmental delay
ORPHA:2834	ATP6V0A2	23545	HP:0006114	Multiple palmar creases
ORPHA:2834	ATP6V0A2	23545	HP:0200141	Small, conical teeth
ORPHA:2834	ATP6V0A2	23545	HP:0000028	Cryptorchidism
ORPHA:2834	ATP6V0A2	23545	HP:0008113	Multiple plantar creases
ORPHA:2834	ATP6V0A2	23545	HP:0009125	Lipodystrophy
ORPHA:2834	ATP6V0A2	23545	HP:0001305	Dandy-Walker malformation
ORPHA:2834	ATP6V0A2	23545	HP:0008070	Sparse hair
ORPHA:2834	ATP6V0A2	23545	HP:0001611	Nasal speech
ORPHA:2834	ATP6V0A2	23545	HP:0001869	Deep plantar creases
ORPHA:2834	ATP6V0A2	23545	HP:0002645	Wormian bones
ORPHA:2834	ATP6V0A2	23545	HP:0001476	Delayed closure of the anterior fontanelle
ORPHA:2834	ATP6V0A2	23545	HP:0004322	Short stature
ORPHA:2834	ATP6V0A2	23545	HP:0001788	Premature rupture of membranes
ORPHA:2834	ATP6V0A2	23545	HP:0001763	Pes planus
ORPHA:83	FGFR2	2263	HP:0000772	Abnormality of the ribs
ORPHA:83	FGFR2	2263	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:83	FGFR2	2263	HP:0002007	Frontal bossing
ORPHA:83	FGFR2	2263	HP:0003275	Narrow pelvis bone
ORPHA:83	FGFR2	2263	HP:0000774	Narrow chest
ORPHA:83	FGFR2	2263	HP:0003070	Elbow ankylosis
ORPHA:83	FGFR2	2263	HP:0012210	Abnormal renal morphology
ORPHA:83	FGFR2	2263	HP:0002980	Femoral bowing
ORPHA:83	FGFR2	2263	HP:0000520	Proptosis
ORPHA:83	FGFR2	2263	HP:0001166	Arachnodactyly
ORPHA:83	FGFR2	2263	HP:0003196	Short nose
ORPHA:83	FGFR2	2263	HP:0001363	Craniosynostosis
ORPHA:83	FGFR2	2263	HP:0100490	Camptodactyly of finger
ORPHA:83	FGFR2	2263	HP:0000248	Brachycephaly
ORPHA:83	FGFR2	2263	HP:0000463	Anteverted nares
ORPHA:83	FGFR2	2263	HP:0001387	Joint stiffness
ORPHA:83	FGFR2	2263	HP:0000270	Delayed cranial suture closure
ORPHA:83	FGFR2	2263	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:83	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:83	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:245480	CEBPE	1053	HP:0000007	Autosomal recessive inheritance
OMIM:245480	CEBPE	1053	HP:0011447	Hyposegmentation of neutrophil nuclei
OMIM:245480	CEBPE	1053	HP:0002719	Recurrent infections
OMIM:245480	CEBPE	1053	HP:0012551	Absent neutrophil specific granules
OMIM:300923	KIF4A	24137	HP:0001419	X-linked recessive inheritance
OMIM:300923	KIF4A	24137	HP:0001999	Abnormal facial shape
OMIM:300923	KIF4A	24137	HP:0002465	Poor speech
OMIM:300923	KIF4A	24137	HP:0001250	Seizures
OMIM:300923	KIF4A	24137	HP:0001249	Intellectual disability
ORPHA:241	ABCB6	10058	HP:0007565	Multiple cafe-au-lait spots
ORPHA:241	ABCB6	10058	HP:0000365	Hearing impairment
ORPHA:241	ABCB6	10058	HP:0001034	Hypermelanotic macule
ORPHA:241	ABCB6	10058	HP:0000992	Cutaneous photosensitivity
ORPHA:241	ABCB6	10058	HP:0005590	Spotty hypopigmentation
ORPHA:241	ABCB6	10058	HP:0001480	Freckling
OMIM:247100	ECM1	1893	HP:0000718	Aggressive behavior
OMIM:247100	ECM1	1893	HP:0000007	Autosomal recessive inheritance
OMIM:247100	ECM1	1893	HP:0002354	Memory impairment
OMIM:247100	ECM1	1893	HP:0011999	Paranoia
OMIM:247100	ECM1	1893	HP:0002232	Patchy alopecia
OMIM:247100	ECM1	1893	HP:0001609	Hoarse voice
OMIM:247100	ECM1	1893	HP:0001250	Seizures
OMIM:247100	ECM1	1893	HP:0000738	Hallucinations
OMIM:247100	ECM1	1893	HP:0005671	Bilateral intracranial calcifications
OMIM:247100	ECM1	1893	HP:0000951	Abnormality of the skin
OMIM:616314	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:616314	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616314	CHRNB1	1140	HP:0001319	Neonatal hypotonia
OMIM:616314	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616314	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616314	CHRNB1	1140	HP:0003577	Congenital onset
OMIM:616314	CHRNB1	1140	HP:0001324	Muscle weakness
OMIM:613268	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:613070	TRMU	55687	HP:0002910	Elevated hepatic transaminases
OMIM:613070	TRMU	55687	HP:0002240	Hepatomegaly
OMIM:613070	TRMU	55687	HP:0001414	Microvesicular hepatic steatosis
OMIM:613070	TRMU	55687	HP:0001290	Generalized hypotonia
OMIM:613070	TRMU	55687	HP:0002151	Increased serum lactate
OMIM:613070	TRMU	55687	HP:0006554	Acute hepatic failure
OMIM:613070	TRMU	55687	HP:0003128	Lactic acidosis
OMIM:613070	TRMU	55687	HP:0000952	Jaundice
OMIM:613070	TRMU	55687	HP:0002904	Hyperbilirubinemia
OMIM:613070	TRMU	55687	HP:0008872	Feeding difficulties in infancy
OMIM:613070	TRMU	55687	HP:0003270	Abdominal distention
OMIM:613070	TRMU	55687	HP:0000007	Autosomal recessive inheritance
OMIM:613070	TRMU	55687	HP:0002013	Vomiting
OMIM:613070	TRMU	55687	HP:0003256	Abnormality of the coagulation cascade
OMIM:613070	TRMU	55687	HP:0200125	Mitochondrial respiratory chain defects
OMIM:613070	TRMU	55687	HP:0001403	Macrovesicular hepatic steatosis
OMIM:204500	TPP1	1200	HP:0001250	Seizures
OMIM:204500	TPP1	1200	HP:0000007	Autosomal recessive inheritance
OMIM:204500	TPP1	1200	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:204500	TPP1	1200	HP:0000546	Retinal degeneration
OMIM:204500	TPP1	1200	HP:0003463	Increased extraneuronal autofluorescent lipopigment
OMIM:204500	TPP1	1200	HP:0001311	Abnormal nervous system electrophysiology
OMIM:204500	TPP1	1200	HP:0001251	Ataxia
OMIM:204500	TPP1	1200	HP:0002376	Developmental regression
OMIM:204500	TPP1	1200	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:204500	TPP1	1200	HP:0000529	Progressive visual loss
OMIM:204500	TPP1	1200	HP:0001336	Myoclonus
OMIM:204500	TPP1	1200	HP:0000750	Delayed speech and language development
OMIM:204500	TPP1	1200	HP:0002059	Cerebral atrophy
OMIM:204500	TPP1	1200	HP:0000550	Undetectable electroretinogram
OMIM:245010	CTSC	1075	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:245010	CTSC	1075	HP:0001763	Pes planus
OMIM:245010	CTSC	1075	HP:0001805	Thick nail
OMIM:245010	CTSC	1075	HP:0005406	Recurrent bacterial skin infections
OMIM:245010	CTSC	1075	HP:0006224	Tapering pointed ends of distal finger phalanges
OMIM:245010	CTSC	1075	HP:0001166	Arachnodactyly
OMIM:245010	CTSC	1075	HP:0007545	Congenital palmoplantar keratosis
OMIM:245010	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:245010	CTSC	1075	HP:0000166	Severe periodontitis
ORPHA:231393	GATA1	2623	HP:0001892	Abnormal bleeding
ORPHA:231393	GATA1	2623	HP:0011869	Abnormal platelet function
ORPHA:231393	GATA1	2623	HP:0011902	Abnormal hemoglobin
ORPHA:231393	GATA1	2623	HP:0001873	Thrombocytopenia
ORPHA:231393	GATA1	2623	HP:0001903	Anemia
ORPHA:231393	GATA1	2623	HP:0001744	Splenomegaly
OMIM:606943	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:606943	USH1G	124590	HP:0000407	Sensorineural hearing impairment
OMIM:606943	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:606943	USH1G	124590	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:607864	AXIN1	8312	HP:0000073	Ureteral duplication
OMIM:607864	AXIN1	8312	HP:0003762	Uterus didelphys
OMIM:309800	BCOR	54880	HP:0000482	Microcornea
OMIM:309800	BCOR	54880	HP:0001159	Syndactyly
OMIM:309800	BCOR	54880	HP:0000365	Hearing impairment
OMIM:309800	BCOR	54880	HP:0000377	Abnormality of the pinna
OMIM:309800	BCOR	54880	HP:0000202	Oral cleft
OMIM:309800	BCOR	54880	HP:0000369	Low-set ears
OMIM:309800	BCOR	54880	HP:0200021	Down-sloping shoulders
OMIM:309800	BCOR	54880	HP:0008678	Renal hypoplasia/aplasia
OMIM:309800	BCOR	54880	HP:0000678	Dental crowding
OMIM:309800	BCOR	54880	HP:0002751	Kyphoscoliosis
OMIM:309800	BCOR	54880	HP:0000618	Blindness
OMIM:309800	BCOR	54880	HP:0000742	Self-mutilation
OMIM:309800	BCOR	54880	HP:0002035	Rectal prolapse
OMIM:309800	BCOR	54880	HP:0001250	Seizures
OMIM:309800	BCOR	54880	HP:0000508	Ptosis
OMIM:309800	BCOR	54880	HP:0000465	Webbed neck
OMIM:309800	BCOR	54880	HP:0002251	Aganglionic megacolon
OMIM:309800	BCOR	54880	HP:0002705	High, narrow palate
OMIM:309800	BCOR	54880	HP:0001647	Bicuspid aortic valve
OMIM:309800	BCOR	54880	HP:0000072	Hydroureter
OMIM:309800	BCOR	54880	HP:0001290	Generalized hypotonia
OMIM:309800	BCOR	54880	HP:0000396	Overfolded helix
OMIM:309800	BCOR	54880	HP:0001510	Growth delay
OMIM:309800	BCOR	54880	HP:0000894	Short clavicles
OMIM:309800	BCOR	54880	HP:0000690	Agenesis of maxillary lateral incisor
OMIM:309800	BCOR	54880	HP:0000528	Anophthalmia
OMIM:309800	BCOR	54880	HP:0000767	Pectus excavatum
OMIM:309800	BCOR	54880	HP:0001249	Intellectual disability
OMIM:309800	BCOR	54880	HP:0000718	Aggressive behavior
OMIM:309800	BCOR	54880	HP:0000089	Renal hypoplasia
OMIM:309800	BCOR	54880	HP:0000567	Chorioretinal coloboma
OMIM:309800	BCOR	54880	HP:0000047	Hypospadias
OMIM:309800	BCOR	54880	HP:0000568	Microphthalmia
OMIM:309800	BCOR	54880	HP:0000588	Optic nerve coloboma
OMIM:309800	BCOR	54880	HP:0001270	Motor delay
OMIM:309800	BCOR	54880	HP:0012385	Camptodactyly
OMIM:309800	BCOR	54880	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:309800	BCOR	54880	HP:0002023	Anal atresia
OMIM:309800	BCOR	54880	HP:0000403	Recurrent otitis media
OMIM:309800	BCOR	54880	HP:0000204	Cleft upper lip
OMIM:309800	BCOR	54880	HP:0009466	Radial deviation of finger
OMIM:309800	BCOR	54880	HP:0020006	Ciliary body coloboma
OMIM:309800	BCOR	54880	HP:0000612	Iris coloboma
OMIM:309800	BCOR	54880	HP:0001417	X-linked inheritance
OMIM:309800	BCOR	54880	HP:0000028	Cryptorchidism
OMIM:309800	BCOR	54880	HP:0002021	Pyloric stenosis
OMIM:309800	BCOR	54880	HP:0009473	Joint contracture of the hand
OMIM:309800	BCOR	54880	HP:0000774	Narrow chest
OMIM:309800	BCOR	54880	HP:0030084	Clinodactyly
OMIM:309800	BCOR	54880	HP:0000252	Microcephaly
OMIM:309800	BCOR	54880	HP:0001264	Spastic diplegia
OMIM:309800	BCOR	54880	HP:0002938	Lumbar hyperlordosis
OMIM:309800	NAA10	8260	HP:0000482	Microcornea
OMIM:309800	NAA10	8260	HP:0001159	Syndactyly
OMIM:309800	NAA10	8260	HP:0000365	Hearing impairment
OMIM:309800	NAA10	8260	HP:0000377	Abnormality of the pinna
OMIM:309800	NAA10	8260	HP:0000202	Oral cleft
OMIM:309800	NAA10	8260	HP:0000369	Low-set ears
OMIM:309800	NAA10	8260	HP:0200021	Down-sloping shoulders
OMIM:309800	NAA10	8260	HP:0008678	Renal hypoplasia/aplasia
OMIM:309800	NAA10	8260	HP:0000678	Dental crowding
OMIM:309800	NAA10	8260	HP:0002751	Kyphoscoliosis
OMIM:309800	NAA10	8260	HP:0000618	Blindness
OMIM:309800	NAA10	8260	HP:0000742	Self-mutilation
OMIM:309800	NAA10	8260	HP:0002035	Rectal prolapse
OMIM:309800	NAA10	8260	HP:0001250	Seizures
OMIM:309800	NAA10	8260	HP:0000508	Ptosis
OMIM:309800	NAA10	8260	HP:0000465	Webbed neck
OMIM:309800	NAA10	8260	HP:0002251	Aganglionic megacolon
OMIM:309800	NAA10	8260	HP:0002705	High, narrow palate
OMIM:309800	NAA10	8260	HP:0001647	Bicuspid aortic valve
OMIM:309800	NAA10	8260	HP:0000072	Hydroureter
OMIM:309800	NAA10	8260	HP:0001290	Generalized hypotonia
OMIM:309800	NAA10	8260	HP:0000396	Overfolded helix
OMIM:309800	NAA10	8260	HP:0001510	Growth delay
OMIM:309800	NAA10	8260	HP:0000894	Short clavicles
OMIM:309800	NAA10	8260	HP:0000690	Agenesis of maxillary lateral incisor
OMIM:309800	NAA10	8260	HP:0000528	Anophthalmia
OMIM:309800	NAA10	8260	HP:0000767	Pectus excavatum
OMIM:309800	NAA10	8260	HP:0001249	Intellectual disability
OMIM:309800	NAA10	8260	HP:0000718	Aggressive behavior
OMIM:309800	NAA10	8260	HP:0000089	Renal hypoplasia
OMIM:309800	NAA10	8260	HP:0000567	Chorioretinal coloboma
OMIM:309800	NAA10	8260	HP:0000047	Hypospadias
OMIM:309800	NAA10	8260	HP:0000568	Microphthalmia
OMIM:309800	NAA10	8260	HP:0000588	Optic nerve coloboma
OMIM:309800	NAA10	8260	HP:0001270	Motor delay
OMIM:309800	NAA10	8260	HP:0012385	Camptodactyly
OMIM:309800	NAA10	8260	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:309800	NAA10	8260	HP:0002023	Anal atresia
OMIM:309800	NAA10	8260	HP:0000403	Recurrent otitis media
OMIM:309800	NAA10	8260	HP:0000204	Cleft upper lip
OMIM:309800	NAA10	8260	HP:0009466	Radial deviation of finger
OMIM:309800	NAA10	8260	HP:0020006	Ciliary body coloboma
OMIM:309800	NAA10	8260	HP:0000612	Iris coloboma
OMIM:309800	NAA10	8260	HP:0001417	X-linked inheritance
OMIM:309800	NAA10	8260	HP:0000028	Cryptorchidism
OMIM:309800	NAA10	8260	HP:0002021	Pyloric stenosis
OMIM:309800	NAA10	8260	HP:0009473	Joint contracture of the hand
OMIM:309800	NAA10	8260	HP:0000774	Narrow chest
OMIM:309800	NAA10	8260	HP:0030084	Clinodactyly
OMIM:309800	NAA10	8260	HP:0000252	Microcephaly
OMIM:309800	NAA10	8260	HP:0001264	Spastic diplegia
OMIM:309800	NAA10	8260	HP:0002938	Lumbar hyperlordosis
OMIM:602522	BSND	7809	HP:0001270	Motor delay
OMIM:602522	BSND	7809	HP:0001290	Generalized hypotonia
OMIM:602522	BSND	7809	HP:0002902	Hyponatremia
OMIM:602522	BSND	7809	HP:0001265	Hyporeflexia
OMIM:602522	BSND	7809	HP:0001622	Premature birth
OMIM:602522	BSND	7809	HP:0003113	Hypochloremia
OMIM:602522	BSND	7809	HP:0000103	Polyuria
OMIM:602522	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:602522	BSND	7809	HP:0005576	Tubulointerstitial fibrosis
OMIM:602522	BSND	7809	HP:0002900	Hypokalemia
OMIM:602522	BSND	7809	HP:0000127	Renal salt wasting
OMIM:602522	BSND	7809	HP:0001561	Polyhydramnios
OMIM:602522	BSND	7809	HP:0001249	Intellectual disability
OMIM:602522	BSND	7809	HP:0000969	Edema
OMIM:602522	BSND	7809	HP:0012213	Decreased glomerular filtration rate
OMIM:602522	BSND	7809	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
OMIM:602522	BSND	7809	HP:0000859	Hyperaldosteronism
OMIM:602522	BSND	7809	HP:0012605	Hypernatriuria
OMIM:602522	BSND	7809	HP:0005565	Reduced renal corticomedullary differentiation
OMIM:602522	BSND	7809	HP:0000083	Renal insufficiency
OMIM:602522	BSND	7809	HP:0002914	Hyperchloriduria
OMIM:602522	BSND	7809	HP:0001789	Hydrops fetalis
OMIM:602522	BSND	7809	HP:0003577	Congenital onset
OMIM:602522	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:602522	BSND	7809	HP:0004737	Global glomerulosclerosis
OMIM:602522	BSND	7809	HP:0001563	Fetal polyuria
OMIM:602522	BSND	7809	HP:0003081	Increased urinary potassium
OMIM:602522	BSND	7809	HP:0001508	Failure to thrive
OMIM:602522	BSND	7809	HP:0001425	Heterogeneous
ORPHA:329475	VCP	7415	HP:0002064	Spastic gait
ORPHA:329475	VCP	7415	HP:0007289	Limb fasciculations
ORPHA:329475	VCP	7415	HP:0001258	Spastic paraplegia
ORPHA:329475	VCP	7415	HP:0003155	Elevated alkaline phosphatase
ORPHA:329475	VCP	7415	HP:0003487	Babinski sign
ORPHA:329475	VCP	7415	HP:0002395	Lower limb hyperreflexia
ORPHA:329475	VCP	7415	HP:0003445	EMG: neuropathic changes
ORPHA:329475	VCP	7415	HP:0001288	Gait disturbance
ORPHA:329475	VCP	7415	HP:0001308	Tongue fasciculations
ORPHA:329475	VCP	7415	HP:0003324	Generalized muscle weakness
OMIM:611816	KCNH1	3756	HP:0012553	Hypoplastic thumbnail
OMIM:611816	KCNH1	3756	HP:0000445	Wide nose
OMIM:611816	KCNH1	3756	HP:0009928	Thick nasal alae
OMIM:611816	KCNH1	3756	HP:0000343	Long philtrum
OMIM:611816	KCNH1	3756	HP:0009882	Short distal phalanx of finger
OMIM:611816	KCNH1	3756	HP:0000286	Epicanthus
OMIM:611816	KCNH1	3756	HP:0012555	Absent nail of hallux
OMIM:611816	KCNH1	3756	HP:0009693	Pseudoepiphysis of the thumb
OMIM:611816	KCNH1	3756	HP:0005280	Depressed nasal bridge
OMIM:611816	KCNH1	3756	HP:0000007	Autosomal recessive inheritance
OMIM:611816	KCNH1	3756	HP:0006887	Intellectual disability, progressive
OMIM:611816	KCNH1	3756	HP:0001290	Generalized hypotonia
OMIM:611816	KCNH1	3756	HP:0000154	Wide mouth
OMIM:611816	KCNH1	3756	HP:0004425	Flat forehead
OMIM:611816	KCNH1	3756	HP:0002714	Downturned corners of mouth
OMIM:611816	KCNH1	3756	HP:0001181	Adducted thumb
OMIM:611816	KCNH1	3756	HP:0010864	Intellectual disability, severe
OMIM:611816	KCNH1	3756	HP:0001250	Seizures
OMIM:611816	KCNH1	3756	HP:0003593	Infantile onset
OMIM:611816	KCNH1	3756	HP:0011304	Broad thumb
OMIM:611816	KCNH1	3756	HP:0000316	Hypertelorism
OMIM:611816	KCNH1	3756	HP:0001263	Global developmental delay
OMIM:611816	KCNH1	3756	HP:0000006	Autosomal dominant inheritance
OMIM:611816	KCNH1	3756	HP:0010055	Broad hallux
OMIM:611816	KCNH1	3756	HP:0002058	Myopathic facies
OMIM:615863	DGAT1	8694	HP:0003124	Hypercholesterolemia
OMIM:615863	DGAT1	8694	HP:0000007	Autosomal recessive inheritance
OMIM:615863	DGAT1	8694	HP:0002243	Protein-losing enteropathy
OMIM:615863	DGAT1	8694	HP:0003073	Hypoalbuminemia
OMIM:615863	DGAT1	8694	HP:0002014	Diarrhea
OMIM:615863	DGAT1	8694	HP:0002013	Vomiting
OMIM:615863	DGAT1	8694	HP:0003077	Hyperlipidemia
ORPHA:137902	PAX6	5080	HP:0000538	Pseudopapilledema
ORPHA:137902	PAX6	5080	HP:0000609	Optic nerve hypoplasia
ORPHA:137902	PAX6	5080	HP:0002353	EEG abnormality
ORPHA:137902	PAX6	5080	HP:0030534	Abnormal best corrected visual acuity test
ORPHA:137902	PAX6	5080	HP:0007710	Peripheral vitreous opacities
ORPHA:137902	PAX6	5080	HP:0007766	Optic disc hypoplasia
ORPHA:137902	PAX6	5080	HP:0000567	Chorioretinal coloboma
OMIM:170100	PEPD	5184	HP:0002099	Asthma
OMIM:170100	PEPD	5184	HP:0002162	Low posterior hairline
OMIM:170100	PEPD	5184	HP:0003196	Short nose
OMIM:170100	PEPD	5184	HP:0000007	Autosomal recessive inheritance
OMIM:170100	PEPD	5184	HP:0000520	Proptosis
OMIM:170100	PEPD	5184	HP:0007489	Diffuse telangiectasia
OMIM:170100	PEPD	5184	HP:0001263	Global developmental delay
OMIM:170100	PEPD	5184	HP:0002725	Systemic lupus erythematosus
OMIM:170100	PEPD	5184	HP:0006528	Chronic lung disease
OMIM:170100	PEPD	5184	HP:0006532	Recurrent pneumonia
OMIM:170100	PEPD	5184	HP:0000508	Ptosis
OMIM:170100	PEPD	5184	HP:0011220	Prominent forehead
OMIM:170100	PEPD	5184	HP:0001873	Thrombocytopenia
OMIM:170100	PEPD	5184	HP:0006579	Prolonged neonatal jaundice
OMIM:170100	PEPD	5184	HP:0001744	Splenomegaly
OMIM:170100	PEPD	5184	HP:0001999	Abnormal facial shape
OMIM:170100	PEPD	5184	HP:0002240	Hepatomegaly
OMIM:170100	PEPD	5184	HP:0000316	Hypertelorism
OMIM:170100	PEPD	5184	HP:0007473	Crusting erythematous dermatitis
OMIM:170100	PEPD	5184	HP:0000967	Petechiae
OMIM:170100	PEPD	5184	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:170100	PEPD	5184	HP:0005280	Depressed nasal bridge
OMIM:170100	PEPD	5184	HP:0001903	Anemia
OMIM:170100	PEPD	5184	HP:0000444	Convex nasal ridge
OMIM:615828	DEAF1	10522	HP:0000718	Aggressive behavior
OMIM:615828	DEAF1	10522	HP:0000720	Mood swings
OMIM:615828	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:615828	DEAF1	10522	HP:0000817	Poor eye contact
OMIM:615828	DEAF1	10522	HP:0000303	Mandibular prognathia
OMIM:615828	DEAF1	10522	HP:0002719	Recurrent infections
OMIM:615828	DEAF1	10522	HP:0000179	Thick lower lip vermilion
OMIM:615828	DEAF1	10522	HP:0010804	Tented upper lip vermilion
OMIM:615828	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:615828	DEAF1	10522	HP:0001288	Gait disturbance
OMIM:615828	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:615828	DEAF1	10522	HP:0011228	Horizontal eyebrow
OMIM:611407	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:611407	VCL	7414	HP:0001644	Dilated cardiomyopathy
ORPHA:2856	AMH	268	HP:0000028	Cryptorchidism
ORPHA:2856	AMH	268	HP:0000037	Male pseudohermaphroditism
ORPHA:2856	AMH	268	HP:0000023	Inguinal hernia
ORPHA:2856	AMHR2	269	HP:0000028	Cryptorchidism
ORPHA:2856	AMHR2	269	HP:0000037	Male pseudohermaphroditism
ORPHA:2856	AMHR2	269	HP:0000023	Inguinal hernia
ORPHA:503	FLNB	2317	HP:0001799	Short nail
ORPHA:503	FLNB	2317	HP:0005008	Large joint dislocations
ORPHA:503	FLNB	2317	HP:0000272	Malar flattening
ORPHA:503	FLNB	2317	HP:0009882	Short distal phalanx of finger
ORPHA:503	FLNB	2317	HP:0012368	Flat face
ORPHA:503	FLNB	2317	HP:0011304	Broad thumb
ORPHA:503	FLNB	2317	HP:0000316	Hypertelorism
ORPHA:503	FLNB	2317	HP:0001156	Brachydactyly
ORPHA:503	FLNB	2317	HP:0005692	Joint hyperflexibility
ORPHA:503	FLNB	2317	HP:0005280	Depressed nasal bridge
ORPHA:503	FLNB	2317	HP:0009836	Broad distal phalanx of finger
ORPHA:503	FLNB	2317	HP:0011220	Prominent forehead
ORPHA:503	FLNB	2317	HP:0004232	Accessory carpal bones
OMIM:115210	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:115210	TNNI3	7137	HP:0002119	Ventriculomegaly
OMIM:115210	TNNI3	7137	HP:0001723	Restrictive cardiomyopathy
OMIM:215045	PTH1R	5745	HP:0001622	Premature birth
OMIM:215045	PTH1R	5745	HP:0003177	Squared iliac bones
OMIM:215045	PTH1R	5745	HP:0003826	Stillbirth
OMIM:215045	PTH1R	5745	HP:0001789	Hydrops fetalis
OMIM:215045	PTH1R	5745	HP:0000272	Malar flattening
OMIM:215045	PTH1R	5745	HP:0005616	Accelerated skeletal maturation
OMIM:215045	PTH1R	5745	HP:0008108	Advanced tarsal ossification
OMIM:215045	PTH1R	5745	HP:0002983	Micromelia
OMIM:215045	PTH1R	5745	HP:0000347	Micrognathia
OMIM:215045	PTH1R	5745	HP:0003015	Flared metaphysis
OMIM:215045	PTH1R	5745	HP:0005789	Generalized osteosclerosis
OMIM:215045	PTH1R	5745	HP:0008754	Laryngeal calcification
OMIM:215045	PTH1R	5745	HP:0001561	Polyhydramnios
OMIM:215045	PTH1R	5745	HP:0000007	Autosomal recessive inheritance
OMIM:215045	PTH1R	5745	HP:0000773	Short ribs
OMIM:215045	PTH1R	5745	HP:0004233	Advanced ossification of carpal bones
OMIM:239510	ALDH4A1	8659	HP:0003108	Hyperglycinuria
OMIM:239510	ALDH4A1	8659	HP:0003080	Hydroxyprolinuria
OMIM:239510	ALDH4A1	8659	HP:0008358	Hyperprolinemia
OMIM:239510	ALDH4A1	8659	HP:0001249	Intellectual disability
OMIM:239510	ALDH4A1	8659	HP:0000007	Autosomal recessive inheritance
OMIM:239510	ALDH4A1	8659	HP:0001250	Seizures
OMIM:239510	ALDH4A1	8659	HP:0003137	Prolinuria
OMIM:245349	PDHX	8050	HP:0000252	Microcephaly
OMIM:245349	PDHX	8050	HP:0007015	Poor gross motor coordination
OMIM:245349	PDHX	8050	HP:0007010	Poor fine motor coordination
OMIM:245349	PDHX	8050	HP:0000316	Hypertelorism
OMIM:245349	PDHX	8050	HP:0003542	Increased serum pyruvate
OMIM:245349	PDHX	8050	HP:0003348	Hyperalaninemia
OMIM:245349	PDHX	8050	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
OMIM:245349	PDHX	8050	HP:0001332	Dystonia
OMIM:245349	PDHX	8050	HP:0001249	Intellectual disability
OMIM:245349	PDHX	8050	HP:0000286	Epicanthus
OMIM:245349	PDHX	8050	HP:0001258	Spastic paraplegia
OMIM:245349	PDHX	8050	HP:0003577	Congenital onset
OMIM:245349	PDHX	8050	HP:0000007	Autosomal recessive inheritance
OMIM:245349	PDHX	8050	HP:0001319	Neonatal hypotonia
OMIM:245349	PDHX	8050	HP:0001251	Ataxia
OMIM:245349	PDHX	8050	HP:0001263	Global developmental delay
OMIM:245349	PDHX	8050	HP:0002317	Unsteady gait
OMIM:245349	PDHX	8050	HP:0000496	Abnormality of eye movement
OMIM:245349	PDHX	8050	HP:0001250	Seizures
OMIM:245349	PDHX	8050	HP:0002416	Subependymal cysts
OMIM:245349	PDHX	8050	HP:0000243	Trigonocephaly
OMIM:245349	PDHX	8050	HP:0003828	Variable expressivity
OMIM:245349	PDHX	8050	HP:0000218	High palate
OMIM:245349	PDHX	8050	HP:0003128	Lactic acidosis
OMIM:245349	PDHX	8050	HP:0000767	Pectus excavatum
OMIM:245349	PDHX	8050	HP:0001942	Metabolic acidosis
OMIM:245349	PDHX	8050	HP:0001338	Partial agenesis of the corpus callosum
OMIM:245349	PDHX	8050	HP:0000648	Optic atrophy
OMIM:245349	PDHX	8050	HP:0002510	Spastic tetraplegia
OMIM:300636	IKBKG	8517	HP:0002718	Recurrent bacterial infections
OMIM:300636	IKBKG	8517	HP:0001419	X-linked recessive inheritance
OMIM:300636	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:607107	TP53	7157	HP:0100630	Neoplasia of the nasopharynx
OMIM:607107	TP53	7157	HP:0010982	Polygenic inheritance
OMIM:607487	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:607487	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:300758	MAMLD1	10046	HP:0000808	Penoscrotal hypospadias
OMIM:300758	MAMLD1	10046	HP:0001419	X-linked recessive inheritance
OMIM:266100	ALDH7A1	501	HP:0002069	Generalized tonic-clonic seizures
OMIM:266100	ALDH7A1	501	HP:0001290	Generalized hypotonia
OMIM:266100	ALDH7A1	501	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:266100	ALDH7A1	501	HP:0001263	Global developmental delay
OMIM:266100	ALDH7A1	501	HP:0000750	Delayed speech and language development
OMIM:266100	ALDH7A1	501	HP:0001249	Intellectual disability
OMIM:266100	ALDH7A1	501	HP:0025116	Fetal distress
OMIM:266100	ALDH7A1	501	HP:0002133	Status epilepticus
OMIM:266100	ALDH7A1	501	HP:0002123	Generalized myoclonic seizures
OMIM:266100	ALDH7A1	501	HP:0001557	Prenatal movement abnormality
OMIM:266100	ALDH7A1	501	HP:0002098	Respiratory distress
OMIM:266100	ALDH7A1	501	HP:0002643	Neonatal respiratory distress
OMIM:266100	ALDH7A1	501	HP:0000007	Autosomal recessive inheritance
OMIM:250940	MTR	4548	HP:0001290	Generalized hypotonia
OMIM:250940	MTR	4548	HP:0002156	Homocystinuria
OMIM:250940	MTR	4548	HP:0002370	Poor coordination
OMIM:250940	MTR	4548	HP:0001288	Gait disturbance
OMIM:250940	MTR	4548	HP:0001249	Intellectual disability
OMIM:250940	MTR	4548	HP:0001508	Failure to thrive
OMIM:250940	MTR	4548	HP:0001250	Seizures
OMIM:250940	MTR	4548	HP:0008872	Feeding difficulties in infancy
OMIM:250940	MTR	4548	HP:0001889	Megaloblastic anemia
OMIM:250940	MTR	4548	HP:0003593	Infantile onset
OMIM:250940	MTR	4548	HP:0002160	Hyperhomocystinemia
OMIM:250940	MTR	4548	HP:0003658	Hypomethioninemia
OMIM:250940	MTR	4548	HP:0002059	Cerebral atrophy
OMIM:250940	MTR	4548	HP:0003223	Decreased methylcobalamin
OMIM:250940	MTR	4548	HP:0003524	Decreased methionine synthase activity
OMIM:250940	MTR	4548	HP:0000007	Autosomal recessive inheritance
OMIM:250940	MTR	4548	HP:0001263	Global developmental delay
OMIM:617238	P4HA2	8974	HP:0000006	Autosomal dominant inheritance
OMIM:617238	P4HA2	8974	HP:0011003	Severe Myopia
OMIM:614856	BMP1	649	HP:0000926	Platyspondyly
OMIM:614856	BMP1	649	HP:0000325	Triangular face
OMIM:614856	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:614856	BMP1	649	HP:0003202	Skeletal muscle atrophy
ORPHA:2196	CLDN19	149461	HP:0000567	Chorioretinal coloboma
ORPHA:2196	CLDN19	149461	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:2196	CLDN19	149461	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2196	CLDN19	149461	HP:0000639	Nystagmus
ORPHA:2196	CLDN19	149461	HP:0000545	Myopia
ORPHA:2196	CLDN19	149461	HP:0000790	Hematuria
ORPHA:2196	CLDN19	149461	HP:0000023	Inguinal hernia
ORPHA:2196	CLDN19	149461	HP:0001116	Macular coloboma
ORPHA:2196	CLDN19	149461	HP:0000787	Nephrolithiasis
ORPHA:2196	CLDN19	149461	HP:0000112	Nephropathy
OMIM:231095	TBXAS1	6916	HP:0011001	Increased bone mineral density
OMIM:231095	TBXAS1	6916	HP:0005528	Bone marrow hypocellularity
OMIM:231095	TBXAS1	6916	HP:0005890	Hyperostosis cranialis interna
OMIM:231095	TBXAS1	6916	HP:0003812	Phenotypic variability
OMIM:231095	TBXAS1	6916	HP:0005505	Refractory anemia
OMIM:231095	TBXAS1	6916	HP:0100252	Diaphyseal dysplasia
OMIM:231095	TBXAS1	6916	HP:0001873	Thrombocytopenia
OMIM:231095	TBXAS1	6916	HP:0000007	Autosomal recessive inheritance
OMIM:231095	TBXAS1	6916	HP:0011974	Myelofibrosis
OMIM:113800	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:113800	KRT10	3858	HP:0025092	Epidermal acanthosis
OMIM:113800	KRT10	3858	HP:0001019	Erythroderma
OMIM:113800	KRT10	3858	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:113800	KRT10	3858	HP:0040189	Scaling skin
OMIM:113800	KRT10	3858	HP:0000007	Autosomal recessive inheritance
OMIM:113800	KRT10	3858	HP:0000972	Palmoplantar hyperkeratosis
OMIM:113800	KRT10	3858	HP:0008066	Abnormal blistering of the skin
OMIM:113800	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:113800	KRT1	3848	HP:0025092	Epidermal acanthosis
OMIM:113800	KRT1	3848	HP:0001019	Erythroderma
OMIM:113800	KRT1	3848	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:113800	KRT1	3848	HP:0040189	Scaling skin
OMIM:113800	KRT1	3848	HP:0000007	Autosomal recessive inheritance
OMIM:113800	KRT1	3848	HP:0000972	Palmoplantar hyperkeratosis
OMIM:113800	KRT1	3848	HP:0008066	Abnormal blistering of the skin
OMIM:600145	VANGL1	81839	HP:0001287	Meningitis
OMIM:600145	VANGL1	81839	HP:0007293	Anterior sacral meningocele
OMIM:600145	VANGL1	81839	HP:0005224	Rectal abscess
OMIM:600145	VANGL1	81839	HP:0003418	Back pain
OMIM:600145	VANGL1	81839	HP:0000011	Neurogenic bladder
OMIM:600145	VANGL1	81839	HP:0012033	Sacral lipoma
OMIM:600145	VANGL1	81839	HP:0025247	Dermoid cyst
OMIM:600145	VANGL1	81839	HP:0009790	Hemisacrum
OMIM:600145	VANGL1	81839	HP:0000006	Autosomal dominant inheritance
OMIM:600145	VANGL1	81839	HP:0002019	Constipation
OMIM:600145	VANGL1	81839	HP:0002315	Headache
OMIM:113970	MYC	4609	HP:0003745	Sporadic
OMIM:113970	MYC	4609	HP:0030080	Burkitt lymphoma
OMIM:104500	ENAM	10117	HP:0000705	Amelogenesis imperfecta
OMIM:104500	ENAM	10117	HP:0000006	Autosomal dominant inheritance
ORPHA:156	CPT1A	1374	HP:0001259	Coma
ORPHA:156	CPT1A	1374	HP:0001254	Lethargy
ORPHA:156	CPT1A	1374	HP:0001250	Seizures
ORPHA:156	CPT1A	1374	HP:0001399	Hepatic failure
ORPHA:156	CPT1A	1374	HP:0001315	Reduced tendon reflexes
ORPHA:156	CPT1A	1374	HP:0003202	Skeletal muscle atrophy
ORPHA:156	CPT1A	1374	HP:0000708	Behavioral abnormality
ORPHA:156	CPT1A	1374	HP:0001252	Muscular hypotonia
ORPHA:156	CPT1A	1374	HP:0007185	Loss of consciousness
ORPHA:156	CPT1A	1374	HP:0002167	Neurological speech impairment
ORPHA:156	CPT1A	1374	HP:0002240	Hepatomegaly
ORPHA:156	CPT1A	1374	HP:0004374	Hemiplegia/hemiparesis
ORPHA:156	CPT1A	1374	HP:0008279	Transient hyperlipidemia
ORPHA:156	CPT1A	1374	HP:0002910	Elevated hepatic transaminases
ORPHA:156	CPT1A	1374	HP:0012378	Fatigue
ORPHA:156	CPT1A	1374	HP:0001943	Hypoglycemia
OMIM:615735	KRT6C	286887	HP:0000006	Autosomal dominant inheritance
OMIM:615735	KRT6C	286887	HP:0025092	Epidermal acanthosis
OMIM:615735	KRT6C	286887	HP:0000982	Palmoplantar keratoderma
OMIM:614153	NOP56	10528	HP:0002070	Limb ataxia
OMIM:614153	NOP56	10528	HP:0001260	Dysarthria
OMIM:614153	NOP56	10528	HP:0000514	Slow saccadic eye movements
OMIM:614153	NOP56	10528	HP:0000006	Autosomal dominant inheritance
OMIM:614153	NOP56	10528	HP:0007772	Impaired smooth pursuit
OMIM:614153	NOP56	10528	HP:0001308	Tongue fasciculations
OMIM:614153	NOP56	10528	HP:0002311	Incoordination
OMIM:614153	NOP56	10528	HP:0002066	Gait ataxia
OMIM:614153	NOP56	10528	HP:0012473	Tongue atrophy
OMIM:614153	NOP56	10528	HP:0003487	Babinski sign
OMIM:614153	NOP56	10528	HP:0001347	Hyperreflexia
OMIM:614153	NOP56	10528	HP:0001272	Cerebellar atrophy
OMIM:614153	NOP56	10528	HP:0003676	Progressive
ORPHA:1479	NKX2-5	1482	HP:0011675	Arrhythmia
ORPHA:1479	NKX2-5	1482	HP:0001671	Abnormality of the cardiac septa
ORPHA:1479	NKX2-5	1482	HP:0011710	Bundle branch block
OMIM:215300	EXT1	2131	HP:0000007	Autosomal recessive inheritance
OMIM:215300	EXT1	2131	HP:0006765	Chondrosarcoma
ORPHA:90042	EPOR	2057	HP:0000421	Epistaxis
ORPHA:90042	EPOR	2057	HP:0001901	Polycythemia
ORPHA:90042	EPOR	2057	HP:0002027	Abdominal pain
ORPHA:90042	EPOR	2057	HP:0000989	Pruritus
ORPHA:90042	EPOR	2057	HP:0002315	Headache
ORPHA:90042	EPOR	2057	HP:0002829	Arthralgia
ORPHA:90042	EPOR	2057	HP:0004936	Venous thrombosis
ORPHA:90042	EPOR	2057	HP:0002321	Vertigo
ORPHA:90042	EPOR	2057	HP:0012378	Fatigue
ORPHA:90042	EPOR	2057	HP:0011902	Abnormal hemoglobin
OMIM:264600	SRD5A2	6716	HP:0000007	Autosomal recessive inheritance
OMIM:264600	SRD5A2	6716	HP:0000048	Bifid scrotum
OMIM:264600	SRD5A2	6716	HP:0000051	Perineal hypospadias
OMIM:264600	SRD5A2	6716	HP:0000054	Micropenis
OMIM:264600	SRD5A2	6716	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264600	SRD5A2	6716	HP:0003812	Phenotypic variability
OMIM:264600	SRD5A2	6716	HP:0001608	Abnormality of the voice
OMIM:264600	SRD5A2	6716	HP:0001595	Abnormality of the hair
OMIM:264600	SRD5A2	6716	HP:0000818	Abnormality of the endocrine system
OMIM:264600	SRD5A2	6716	HP:0000033	Ambiguous genitalia, male
OMIM:115300	BCO1	53630	HP:0000006	Autosomal dominant inheritance
OMIM:115300	BCO1	53630	HP:0000951	Abnormality of the skin
OMIM:115300	BCO1	53630	HP:0004905	Vitamin A deficiency
OMIM:125595	KRT14	3861	HP:0012788	Reticulate pigmentation of oral mucosa
OMIM:125595	KRT14	3861	HP:0007455	Adermatoglyphia
OMIM:125595	KRT14	3861	HP:0007588	Reticular hyperpigmentation
OMIM:125595	KRT14	3861	HP:0000972	Palmoplantar hyperkeratosis
OMIM:125595	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:125595	KRT14	3861	HP:0000502	Abnormality of the conjunctiva
OMIM:125595	KRT14	3861	HP:0007550	Hypohidrosis or hyperhidrosis
OMIM:125595	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:125595	KRT14	3861	HP:0002293	Alopecia of scalp
OMIM:615592	IKBKB	3551	HP:0001508	Failure to thrive
OMIM:615592	IKBKB	3551	HP:0004432	Agammaglobulinemia
OMIM:615592	IKBKB	3551	HP:0002028	Chronic diarrhea
OMIM:615592	IKBKB	3551	HP:0011947	Respiratory tract infection
OMIM:615592	IKBKB	3551	HP:0003593	Infantile onset
OMIM:615592	IKBKB	3551	HP:0000007	Autosomal recessive inheritance
OMIM:615592	IKBKB	3551	HP:0002721	Immunodeficiency
OMIM:617145	SQSTM1	8878	HP:0007256	Abnormal pyramidal signs
OMIM:617145	SQSTM1	8878	HP:0003676	Progressive
OMIM:617145	SQSTM1	8878	HP:0001268	Mental deterioration
OMIM:617145	SQSTM1	8878	HP:0002066	Gait ataxia
OMIM:617145	SQSTM1	8878	HP:0000639	Nystagmus
OMIM:617145	SQSTM1	8878	HP:0001337	Tremor
OMIM:617145	SQSTM1	8878	HP:0000007	Autosomal recessive inheritance
OMIM:617145	SQSTM1	8878	HP:0000657	Oculomotor apraxia
OMIM:617145	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:617145	SQSTM1	8878	HP:0002075	Dysdiadochokinesis
OMIM:617145	SQSTM1	8878	HP:0001310	Dysmetria
OMIM:617145	SQSTM1	8878	HP:0001332	Dystonia
OMIM:617145	SQSTM1	8878	HP:0000511	Vertical supranuclear gaze palsy
OMIM:617145	SQSTM1	8878	HP:0002070	Limb ataxia
OMIM:617145	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:304800	AVPR2	554	HP:0001955	Unexplained fevers
OMIM:304800	AVPR2	554	HP:0000873	Diabetes insipidus
OMIM:304800	AVPR2	554	HP:0000103	Polyuria
OMIM:304800	AVPR2	554	HP:0002013	Vomiting
OMIM:304800	AVPR2	554	HP:0003623	Neonatal onset
OMIM:304800	AVPR2	554	HP:0001959	Polydipsia
OMIM:304800	AVPR2	554	HP:0000737	Irritability
OMIM:304800	AVPR2	554	HP:0001425	Heterogeneous
OMIM:304800	AVPR2	554	HP:0008872	Feeding difficulties in infancy
OMIM:304800	AVPR2	554	HP:0001250	Seizures
OMIM:304800	AVPR2	554	HP:0002019	Constipation
OMIM:304800	AVPR2	554	HP:0004322	Short stature
OMIM:304800	AVPR2	554	HP:0001249	Intellectual disability
OMIM:304800	AVPR2	554	HP:0000021	Megacystis
OMIM:304800	AVPR2	554	HP:0001986	Hypertonic dehydration
OMIM:304800	AVPR2	554	HP:0001419	X-linked recessive inheritance
OMIM:304800	AVPR2	554	HP:0003228	Hypernatremia
OMIM:304800	AVPR2	554	HP:0001508	Failure to thrive
OMIM:616723	RSPRY1	89970	HP:0000938	Osteopenia
OMIM:616723	RSPRY1	89970	HP:0005280	Depressed nasal bridge
OMIM:616723	RSPRY1	89970	HP:0010804	Tented upper lip vermilion
OMIM:616723	RSPRY1	89970	HP:0000272	Malar flattening
OMIM:616723	RSPRY1	89970	HP:0002678	Skull asymmetry
OMIM:616723	RSPRY1	89970	HP:0006461	Proximal femoral epiphysiolysis
OMIM:616723	RSPRY1	89970	HP:0003196	Short nose
OMIM:616723	RSPRY1	89970	HP:0002750	Delayed skeletal maturation
OMIM:616723	RSPRY1	89970	HP:0000252	Microcephaly
OMIM:616723	RSPRY1	89970	HP:0000007	Autosomal recessive inheritance
OMIM:616723	RSPRY1	89970	HP:0001999	Abnormal facial shape
OMIM:616723	RSPRY1	89970	HP:0001270	Motor delay
OMIM:616723	RSPRY1	89970	HP:0000369	Low-set ears
OMIM:616723	RSPRY1	89970	HP:0012471	Thick vermilion border
OMIM:616723	RSPRY1	89970	HP:0000508	Ptosis
OMIM:616723	RSPRY1	89970	HP:0000470	Short neck
OMIM:616723	RSPRY1	89970	HP:0001249	Intellectual disability
OMIM:616723	RSPRY1	89970	HP:0001363	Craniosynostosis
OMIM:616723	RSPRY1	89970	HP:0010049	Short metacarpal
OMIM:616723	RSPRY1	89970	HP:0008551	Microtia
OMIM:616723	RSPRY1	89970	HP:0002944	Thoracolumbar scoliosis
OMIM:616723	RSPRY1	89970	HP:0000486	Strabismus
OMIM:616723	RSPRY1	89970	HP:0003275	Narrow pelvis bone
OMIM:616723	RSPRY1	89970	HP:0001845	Overlapping toe
OMIM:616723	RSPRY1	89970	HP:0004322	Short stature
OMIM:616723	RSPRY1	89970	HP:0100864	Short femoral neck
OMIM:616723	RSPRY1	89970	HP:0000286	Epicanthus
OMIM:616723	RSPRY1	89970	HP:0010585	Small epiphyses
OMIM:616723	RSPRY1	89970	HP:0000316	Hypertelorism
OMIM:616723	RSPRY1	89970	HP:0000926	Platyspondyly
OMIM:204750	DHTKD1	55526	HP:0001290	Generalized hypotonia
OMIM:204750	DHTKD1	55526	HP:0003355	Aminoaciduria
OMIM:204750	DHTKD1	55526	HP:0001263	Global developmental delay
OMIM:204750	DHTKD1	55526	HP:0000007	Autosomal recessive inheritance
OMIM:204750	DHTKD1	55526	HP:0000750	Delayed speech and language development
OMIM:204750	DHTKD1	55526	HP:0003812	Phenotypic variability
OMIM:204750	DHTKD1	55526	HP:0001256	Intellectual disability, mild
OMIM:204750	DHTKD1	55526	HP:0000252	Microcephaly
OMIM:204750	DHTKD1	55526	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608443	CC2D1A	54862	HP:0000338	Hypomimic face
OMIM:608443	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:608443	CC2D1A	54862	HP:0002546	Incomprehensible speech
OMIM:608443	CC2D1A	54862	HP:0003621	Juvenile onset
OMIM:608443	CC2D1A	54862	HP:0000752	Hyperactivity
OMIM:608443	CC2D1A	54862	HP:0010864	Intellectual disability, severe
OMIM:608443	CC2D1A	54862	HP:0006887	Intellectual disability, progressive
OMIM:608443	CC2D1A	54862	HP:0000736	Short attention span
OMIM:608443	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:300886	CLIC2	1193	HP:0002187	Intellectual disability, profound
OMIM:300886	CLIC2	1193	HP:0001635	Congestive heart failure
OMIM:300886	CLIC2	1193	HP:0005781	Contractures of the large joints
OMIM:300886	CLIC2	1193	HP:0001344	Absent speech
OMIM:300886	CLIC2	1193	HP:0001640	Cardiomegaly
OMIM:300886	CLIC2	1193	HP:0000053	Macroorchidism
OMIM:300886	CLIC2	1193	HP:0000400	Macrotia
OMIM:300886	CLIC2	1193	HP:0001263	Global developmental delay
OMIM:300886	CLIC2	1193	HP:0001419	X-linked recessive inheritance
OMIM:300886	CLIC2	1193	HP:0001250	Seizures
OMIM:261740	PRKAG2	51422	HP:0005165	Shortened PR interval
OMIM:261740	PRKAG2	51422	HP:0001635	Congestive heart failure
OMIM:261740	PRKAG2	51422	HP:0000007	Autosomal recessive inheritance
OMIM:261740	PRKAG2	51422	HP:0000006	Autosomal dominant inheritance
OMIM:261740	PRKAG2	51422	HP:0100598	Pulmonary edema
OMIM:261740	PRKAG2	51422	HP:0002615	Hypotension
OMIM:261740	PRKAG2	51422	HP:0001541	Ascites
OMIM:261740	PRKAG2	51422	HP:0001640	Cardiomegaly
OMIM:261740	PRKAG2	51422	HP:0200128	Biventricular hypertrophy
OMIM:261740	PRKAG2	51422	HP:0001998	Neonatal hypoglycemia
OMIM:261740	PRKAG2	51422	HP:0000961	Cyanosis
OMIM:614195	VSX1	30813	HP:0007035	Anterior encephalocele
OMIM:614195	VSX1	30813	HP:0011488	Abnormality of corneal endothelium
OMIM:614195	VSX1	30813	HP:0000356	Abnormality of the outer ear
OMIM:614195	VSX1	30813	HP:0007700	Anterior segment dysgenesis
OMIM:614195	VSX1	30813	HP:0007291	Posterior fossa cyst
OMIM:614195	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:614195	VSX1	30813	HP:0000512	Abnormal electroretinogram
OMIM:614195	VSX1	30813	HP:0000238	Hydrocephalus
OMIM:614195	VSX1	30813	HP:0000316	Hypertelorism
OMIM:113200	HOXD13	3239	HP:0005627	Type D brachydactyly
OMIM:113200	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:113200	HOXD13	3239	HP:0010077	Broad distal phalanx of the hallux
OMIM:113200	HOXD13	3239	HP:0009642	Broad distal phalanx of the thumb
ORPHA:1146	TNNI2	7136	HP:0100490	Camptodactyly of finger
ORPHA:1146	TNNI2	7136	HP:0001181	Adducted thumb
ORPHA:1146	TNNI2	7136	HP:0001883	Talipes
ORPHA:1146	TNNI2	7136	HP:0001387	Joint stiffness
ORPHA:1146	TNNI2	7136	HP:0010557	Overlapping fingers
ORPHA:1146	TNNI2	7136	HP:0009465	Ulnar deviation of finger
ORPHA:1146	TPM2	7169	HP:0100490	Camptodactyly of finger
ORPHA:1146	TPM2	7169	HP:0001181	Adducted thumb
ORPHA:1146	TPM2	7169	HP:0001883	Talipes
ORPHA:1146	TPM2	7169	HP:0001387	Joint stiffness
ORPHA:1146	TPM2	7169	HP:0010557	Overlapping fingers
ORPHA:1146	TPM2	7169	HP:0009465	Ulnar deviation of finger
ORPHA:1146	NALCN	259232	HP:0100490	Camptodactyly of finger
ORPHA:1146	NALCN	259232	HP:0001181	Adducted thumb
ORPHA:1146	NALCN	259232	HP:0001883	Talipes
ORPHA:1146	NALCN	259232	HP:0001387	Joint stiffness
ORPHA:1146	NALCN	259232	HP:0010557	Overlapping fingers
ORPHA:1146	NALCN	259232	HP:0009465	Ulnar deviation of finger
ORPHA:1146	TNNT3	7140	HP:0100490	Camptodactyly of finger
ORPHA:1146	TNNT3	7140	HP:0001181	Adducted thumb
ORPHA:1146	TNNT3	7140	HP:0001883	Talipes
ORPHA:1146	TNNT3	7140	HP:0001387	Joint stiffness
ORPHA:1146	TNNT3	7140	HP:0010557	Overlapping fingers
ORPHA:1146	TNNT3	7140	HP:0009465	Ulnar deviation of finger
ORPHA:1146	MYBPC1	4604	HP:0100490	Camptodactyly of finger
ORPHA:1146	MYBPC1	4604	HP:0001181	Adducted thumb
ORPHA:1146	MYBPC1	4604	HP:0001883	Talipes
ORPHA:1146	MYBPC1	4604	HP:0001387	Joint stiffness
ORPHA:1146	MYBPC1	4604	HP:0010557	Overlapping fingers
ORPHA:1146	MYBPC1	4604	HP:0009465	Ulnar deviation of finger
ORPHA:1146	MYH3	4621	HP:0100490	Camptodactyly of finger
ORPHA:1146	MYH3	4621	HP:0001181	Adducted thumb
ORPHA:1146	MYH3	4621	HP:0001883	Talipes
ORPHA:1146	MYH3	4621	HP:0001387	Joint stiffness
ORPHA:1146	MYH3	4621	HP:0010557	Overlapping fingers
ORPHA:1146	MYH3	4621	HP:0009465	Ulnar deviation of finger
OMIM:600512	RELN	5649	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:600512	RELN	5649	HP:0011158	Auditory auras
OMIM:600512	RELN	5649	HP:0003829	Incomplete penetrance
OMIM:600512	RELN	5649	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600512	RELN	5649	HP:0002349	Focal seizures without impairment of consciousness or awareness
OMIM:600512	RELN	5649	HP:0000006	Autosomal dominant inheritance
OMIM:600512	LGI1	9211	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:600512	LGI1	9211	HP:0011158	Auditory auras
OMIM:600512	LGI1	9211	HP:0003829	Incomplete penetrance
OMIM:600512	LGI1	9211	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600512	LGI1	9211	HP:0002349	Focal seizures without impairment of consciousness or awareness
OMIM:600512	LGI1	9211	HP:0000006	Autosomal dominant inheritance
ORPHA:596	MTM1	4534	HP:0001048	Cavernous hemangioma
ORPHA:596	MTM1	4534	HP:0004887	Respiratory failure requiring assisted ventilation
ORPHA:596	MTM1	4534	HP:0001252	Muscular hypotonia
ORPHA:596	MTM1	4534	HP:0000508	Ptosis
ORPHA:596	MTM1	4534	HP:0003202	Skeletal muscle atrophy
ORPHA:596	MTM1	4534	HP:0002346	Head tremor
ORPHA:596	MTM1	4534	HP:0003457	EMG abnormality
ORPHA:596	MTM1	4534	HP:0002650	Scoliosis
ORPHA:596	MTM1	4534	HP:0000544	External ophthalmoplegia
ORPHA:596	MTM1	4534	HP:0001250	Seizures
ORPHA:596	MTM1	4534	HP:0001678	Atrioventricular block
ORPHA:596	MTM1	4534	HP:0001288	Gait disturbance
ORPHA:596	MTM1	4534	HP:0000298	Mask-like facies
ORPHA:596	MTM1	4534	HP:0001284	Areflexia
ORPHA:60030	TGFBR1	7046	HP:0100718	Uterine rupture
ORPHA:60030	TGFBR1	7046	HP:0000098	Tall stature
ORPHA:60030	TGFBR1	7046	HP:0000218	High palate
ORPHA:60030	TGFBR1	7046	HP:0005294	Arterial dissection
ORPHA:60030	TGFBR1	7046	HP:0000987	Atypical scarring of skin
ORPHA:60030	TGFBR1	7046	HP:0001166	Arachnodactyly
ORPHA:60030	TGFBR1	7046	HP:0001763	Pes planus
ORPHA:60030	TGFBR1	7046	HP:0000272	Malar flattening
ORPHA:60030	TGFBR1	7046	HP:0002647	Aortic dissection
ORPHA:60030	TGFBR1	7046	HP:0100490	Camptodactyly of finger
ORPHA:60030	TGFBR1	7046	HP:0001363	Craniosynostosis
ORPHA:60030	TGFBR1	7046	HP:0000202	Oral cleft
ORPHA:60030	TGFBR1	7046	HP:0002650	Scoliosis
ORPHA:60030	TGFBR1	7046	HP:0000193	Bifid uvula
ORPHA:60030	TGFBR1	7046	HP:0001643	Patent ductus arteriosus
ORPHA:60030	TGFBR1	7046	HP:0004942	Aortic aneurysm
ORPHA:60030	TGFBR1	7046	HP:0000592	Blue sclerae
ORPHA:60030	TGFBR1	7046	HP:0001065	Striae distensae
ORPHA:60030	TGFBR1	7046	HP:0005116	Arterial tortuosity
ORPHA:60030	TGFBR1	7046	HP:0000316	Hypertelorism
ORPHA:60030	TGFBR1	7046	HP:0000347	Micrognathia
ORPHA:60030	TGFBR2	7048	HP:0100718	Uterine rupture
ORPHA:60030	TGFBR2	7048	HP:0000098	Tall stature
ORPHA:60030	TGFBR2	7048	HP:0000218	High palate
ORPHA:60030	TGFBR2	7048	HP:0005294	Arterial dissection
ORPHA:60030	TGFBR2	7048	HP:0000987	Atypical scarring of skin
ORPHA:60030	TGFBR2	7048	HP:0001166	Arachnodactyly
ORPHA:60030	TGFBR2	7048	HP:0001763	Pes planus
ORPHA:60030	TGFBR2	7048	HP:0000272	Malar flattening
ORPHA:60030	TGFBR2	7048	HP:0002647	Aortic dissection
ORPHA:60030	TGFBR2	7048	HP:0100490	Camptodactyly of finger
ORPHA:60030	TGFBR2	7048	HP:0001363	Craniosynostosis
ORPHA:60030	TGFBR2	7048	HP:0000202	Oral cleft
ORPHA:60030	TGFBR2	7048	HP:0002650	Scoliosis
ORPHA:60030	TGFBR2	7048	HP:0000193	Bifid uvula
ORPHA:60030	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
ORPHA:60030	TGFBR2	7048	HP:0004942	Aortic aneurysm
ORPHA:60030	TGFBR2	7048	HP:0000592	Blue sclerae
ORPHA:60030	TGFBR2	7048	HP:0001065	Striae distensae
ORPHA:60030	TGFBR2	7048	HP:0005116	Arterial tortuosity
ORPHA:60030	TGFBR2	7048	HP:0000316	Hypertelorism
ORPHA:60030	TGFBR2	7048	HP:0000347	Micrognathia
OMIM:300984	USP27X	389856	HP:0001249	Intellectual disability
OMIM:300984	USP27X	389856	HP:0000708	Behavioral abnormality
OMIM:300984	USP27X	389856	HP:0001419	X-linked recessive inheritance
OMIM:613329	SERPINE1	5054	HP:0000006	Autosomal dominant inheritance
OMIM:613329	SERPINE1	5054	HP:0003577	Congenital onset
OMIM:613329	SERPINE1	5054	HP:0000007	Autosomal recessive inheritance
OMIM:613329	SERPINE1	5054	HP:0000132	Menorrhagia
ORPHA:3097	WT1	7490	HP:0011027	Abnormality of the fallopian tube
ORPHA:3097	WT1	7490	HP:0000062	Ambiguous genitalia
ORPHA:3097	WT1	7490	HP:0000148	Vaginal atresia
ORPHA:3097	WT1	7490	HP:0000776	Congenital diaphragmatic hernia
ORPHA:3097	WT1	7490	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:3097	WT1	7490	HP:0000028	Cryptorchidism
ORPHA:3097	WT1	7490	HP:0004383	Hypoplastic left heart
ORPHA:3097	WT1	7490	HP:0100632	Pulmonary sequestration
ORPHA:3097	WT1	7490	HP:0008736	Hypoplasia of penis
ORPHA:3097	WT1	7490	HP:0030010	Hydrometrocolpos
ORPHA:897	EDN3	1908	HP:0002211	White forelock
ORPHA:897	EDN3	1908	HP:0002216	Premature graying of hair
ORPHA:897	EDN3	1908	HP:0002027	Abdominal pain
ORPHA:897	EDN3	1908	HP:0000431	Wide nasal bridge
ORPHA:897	EDN3	1908	HP:0001341	Olfactory lobe agenesis
ORPHA:897	EDN3	1908	HP:0000426	Prominent nasal bridge
ORPHA:897	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHA:897	EDN3	1908	HP:0002019	Constipation
ORPHA:897	EDN3	1908	HP:0002227	White eyelashes
ORPHA:897	EDN3	1908	HP:0000664	Synophrys
ORPHA:897	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHA:897	EDN3	1908	HP:0001103	Abnormal macular morphology
ORPHA:897	EDN3	1908	HP:0000365	Hearing impairment
ORPHA:897	EDN3	1908	HP:0000430	Underdeveloped nasal alae
ORPHA:897	EDN3	1908	HP:0002226	White eyebrow
ORPHA:897	EDN3	1908	HP:0000504	Abnormality of vision
ORPHA:897	EDNRB	1910	HP:0002211	White forelock
ORPHA:897	EDNRB	1910	HP:0002216	Premature graying of hair
ORPHA:897	EDNRB	1910	HP:0002027	Abdominal pain
ORPHA:897	EDNRB	1910	HP:0000431	Wide nasal bridge
ORPHA:897	EDNRB	1910	HP:0001341	Olfactory lobe agenesis
ORPHA:897	EDNRB	1910	HP:0000426	Prominent nasal bridge
ORPHA:897	EDNRB	1910	HP:0005214	Intestinal obstruction
ORPHA:897	EDNRB	1910	HP:0002019	Constipation
ORPHA:897	EDNRB	1910	HP:0002227	White eyelashes
ORPHA:897	EDNRB	1910	HP:0000664	Synophrys
ORPHA:897	EDNRB	1910	HP:0002251	Aganglionic megacolon
ORPHA:897	EDNRB	1910	HP:0001103	Abnormal macular morphology
ORPHA:897	EDNRB	1910	HP:0000365	Hearing impairment
ORPHA:897	EDNRB	1910	HP:0000430	Underdeveloped nasal alae
ORPHA:897	EDNRB	1910	HP:0002226	White eyebrow
ORPHA:897	EDNRB	1910	HP:0000504	Abnormality of vision
ORPHA:897	SOX10	6663	HP:0002211	White forelock
ORPHA:897	SOX10	6663	HP:0002216	Premature graying of hair
ORPHA:897	SOX10	6663	HP:0002027	Abdominal pain
ORPHA:897	SOX10	6663	HP:0000431	Wide nasal bridge
ORPHA:897	SOX10	6663	HP:0001341	Olfactory lobe agenesis
ORPHA:897	SOX10	6663	HP:0000426	Prominent nasal bridge
ORPHA:897	SOX10	6663	HP:0005214	Intestinal obstruction
ORPHA:897	SOX10	6663	HP:0002019	Constipation
ORPHA:897	SOX10	6663	HP:0002227	White eyelashes
ORPHA:897	SOX10	6663	HP:0000664	Synophrys
ORPHA:897	SOX10	6663	HP:0002251	Aganglionic megacolon
ORPHA:897	SOX10	6663	HP:0001103	Abnormal macular morphology
ORPHA:897	SOX10	6663	HP:0000365	Hearing impairment
ORPHA:897	SOX10	6663	HP:0000430	Underdeveloped nasal alae
ORPHA:897	SOX10	6663	HP:0002226	White eyebrow
ORPHA:897	SOX10	6663	HP:0000504	Abnormality of vision
OMIM:603034	COLQ	8292	HP:0001260	Dysarthria
OMIM:603034	COLQ	8292	HP:0000007	Autosomal recessive inheritance
OMIM:603034	COLQ	8292	HP:0002650	Scoliosis
OMIM:603034	COLQ	8292	HP:0000508	Ptosis
OMIM:603034	COLQ	8292	HP:0003199	Decreased muscle mass
OMIM:603034	COLQ	8292	HP:0003690	Limb muscle weakness
OMIM:603034	COLQ	8292	HP:0003307	Hyperlordosis
OMIM:603034	COLQ	8292	HP:0003554	Type 2 muscle fiber atrophy
OMIM:603034	COLQ	8292	HP:0003436	Prolonged miniature endplate currents
OMIM:603034	COLQ	8292	HP:0003593	Infantile onset
OMIM:603034	COLQ	8292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:603034	COLQ	8292	HP:0001612	Weak cry
OMIM:603034	COLQ	8292	HP:0000597	Ophthalmoparesis
OMIM:603034	COLQ	8292	HP:0008872	Feeding difficulties in infancy
OMIM:603034	COLQ	8292	HP:0002093	Respiratory insufficiency
OMIM:603034	COLQ	8292	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:603034	COLQ	8292	HP:0003443	Decreased size of nerve terminals
OMIM:603034	COLQ	8292	HP:0002715	Abnormality of the immune system
OMIM:603034	COLQ	8292	HP:0003473	Fatigable weakness
OMIM:603034	COLQ	8292	HP:0003388	Easy fatigability
OMIM:603034	COLQ	8292	HP:0001290	Generalized hypotonia
OMIM:603034	COLQ	8292	HP:0002015	Dysphagia
OMIM:603034	COLQ	8292	HP:0003324	Generalized muscle weakness
ORPHA:2072	GBA	2629	HP:0000238	Hydrocephalus
ORPHA:2072	GBA	2629	HP:0000623	Supranuclear ophthalmoplegia
ORPHA:2072	GBA	2629	HP:0001250	Seizures
ORPHA:2072	GBA	2629	HP:0007588	Reticular hyperpigmentation
ORPHA:2072	GBA	2629	HP:0004963	Calcification of the aorta
ORPHA:2072	GBA	2629	HP:0001744	Splenomegaly
ORPHA:2072	GBA	2629	HP:0012303	Abnormal aortic arch morphology
ORPHA:2072	GBA	2629	HP:0000365	Hearing impairment
ORPHA:2072	GBA	2629	HP:0001276	Hypertonia
ORPHA:2072	GBA	2629	HP:0005173	Calcific aortic valve stenosis
ORPHA:2072	GBA	2629	HP:0007885	Slowed horizontal saccades
ORPHA:2072	GBA	2629	HP:0200129	Calcific mitral stenosis
ORPHA:3111	SLCO1B1	10599	HP:0000952	Jaundice
ORPHA:3111	SLCO1B1	10599	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:3111	SLCO1B3	28234	HP:0000952	Jaundice
ORPHA:3111	SLCO1B3	28234	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:140905	LIPC	3990	HP:0001681	Angina pectoris
ORPHA:140905	LIPC	3990	HP:0001013	Eruptive xanthomas
ORPHA:140905	LIPC	3990	HP:0002155	Hypertriglyceridemia
ORPHA:140905	LIPC	3990	HP:0005181	Premature coronary artery disease
ORPHA:140905	LIPC	3990	HP:0012184	Increased circulating high-density lipoprotein levels
OMIM:612095	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:612095	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:612095	PROM1	8842	HP:0000662	Nyctalopia
OMIM:612095	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:612095	PROM1	8842	HP:0000608	Macular degeneration
OMIM:612095	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:616224	PREPL	9581	HP:0010804	Tented upper lip vermilion
OMIM:616224	PREPL	9581	HP:0003577	Congenital onset
OMIM:616224	PREPL	9581	HP:0011968	Feeding difficulties
OMIM:616224	PREPL	9581	HP:0001270	Motor delay
OMIM:616224	PREPL	9581	HP:0004322	Short stature
OMIM:616224	PREPL	9581	HP:0000508	Ptosis
OMIM:616224	PREPL	9581	HP:0001290	Generalized hypotonia
OMIM:616224	PREPL	9581	HP:0000007	Autosomal recessive inheritance
OMIM:616224	PREPL	9581	HP:0000824	Growth hormone deficiency
OMIM:600995	NPHS2	7827	HP:0000093	Proteinuria
OMIM:600995	NPHS2	7827	HP:0000007	Autosomal recessive inheritance
OMIM:600995	NPHS2	7827	HP:0003678	Rapidly progressive
OMIM:600995	NPHS2	7827	HP:0000100	Nephrotic syndrome
OMIM:600995	NPHS2	7827	HP:0003073	Hypoalbuminemia
OMIM:600995	NPHS2	7827	HP:0000969	Edema
OMIM:600995	NPHS2	7827	HP:0003774	Stage 5 chronic kidney disease
OMIM:600995	NPHS2	7827	HP:0003621	Juvenile onset
OMIM:600995	NPHS2	7827	HP:0003077	Hyperlipidemia
OMIM:600995	NPHS2	7827	HP:0003828	Variable expressivity
OMIM:600995	NPHS2	7827	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614665	GUCY2C	2984	HP:0004388	Microcolon
OMIM:614665	GUCY2C	2984	HP:0004401	Meconium ileus
OMIM:614665	GUCY2C	2984	HP:0000007	Autosomal recessive inheritance
OMIM:608940	PCYT1A	5130	HP:0000403	Recurrent otitis media
OMIM:608940	PCYT1A	5130	HP:0008821	Hypoplastic inferior ilia
OMIM:608940	PCYT1A	5130	HP:0000529	Progressive visual loss
OMIM:608940	PCYT1A	5130	HP:0010049	Short metacarpal
OMIM:608940	PCYT1A	5130	HP:0008905	Rhizomelia
OMIM:608940	PCYT1A	5130	HP:0000887	Cupped ribs
OMIM:608940	PCYT1A	5130	HP:0002980	Femoral bowing
OMIM:608940	PCYT1A	5130	HP:0001387	Joint stiffness
OMIM:608940	PCYT1A	5130	HP:0003021	Metaphyseal cupping
OMIM:608940	PCYT1A	5130	HP:0008002	Abnormality of macular pigmentation
OMIM:608940	PCYT1A	5130	HP:0008897	Postnatal growth retardation
OMIM:608940	PCYT1A	5130	HP:0003300	Ovoid vertebral bodies
OMIM:608940	PCYT1A	5130	HP:0002650	Scoliosis
OMIM:608940	PCYT1A	5130	HP:0000007	Autosomal recessive inheritance
OMIM:608940	PCYT1A	5130	HP:0009381	Short finger
OMIM:608940	PCYT1A	5130	HP:0002812	Coxa vara
OMIM:608940	PCYT1A	5130	HP:0003025	Metaphyseal irregularity
OMIM:608940	PCYT1A	5130	HP:0004565	Severe platyspondyly
OMIM:608940	PCYT1A	5130	HP:0002657	Spondylometaphyseal dysplasia
OMIM:608940	PCYT1A	5130	HP:0001156	Brachydactyly
OMIM:608940	PCYT1A	5130	HP:0003375	Narrow greater sacrosciatic notches
OMIM:608940	PCYT1A	5130	HP:0000548	Cone/cone-rod dystrophy
OMIM:608940	PCYT1A	5130	HP:0003016	Metaphyseal widening
OMIM:608940	PCYT1A	5130	HP:0000689	Dental malocclusion
OMIM:608940	PCYT1A	5130	HP:0002982	Tibial bowing
OMIM:608940	PCYT1A	5130	HP:0000639	Nystagmus
OMIM:166700	LEMD3	23592	HP:0001371	Flexion contracture
OMIM:166700	LEMD3	23592	HP:0000006	Autosomal dominant inheritance
OMIM:166700	LEMD3	23592	HP:0003764	Nevus
OMIM:166700	LEMD3	23592	HP:0001387	Joint stiffness
OMIM:166700	LEMD3	23592	HP:0010739	Osteopoikilosis
OMIM:166700	LEMD3	23592	HP:0001609	Hoarse voice
OMIM:614097	CAT	847	HP:0000007	Autosomal recessive inheritance
OMIM:614097	CAT	847	HP:0012517	Reduced catalase activity
OMIM:614097	CAT	847	HP:0000155	Oral ulcer
ORPHA:2239	GCM2	9247	HP:0002150	Hypercalciuria
ORPHA:2239	GCM2	9247	HP:0002905	Hyperphosphatemia
ORPHA:2239	GCM2	9247	HP:0008211	Parathyroid agenesis
ORPHA:2239	GCM2	9247	HP:0002199	Hypocalcemic seizures
ORPHA:2239	GCM2	9247	HP:0008198	Congenital hypoparathyroidism
ORPHA:2239	GCM2	9247	HP:0003251	Male infertility
OMIM:300860	UBE2A	7319	HP:0007874	Almond-shaped palpebral fissure
OMIM:300860	UBE2A	7319	HP:0000582	Upslanted palpebral fissure
OMIM:300860	UBE2A	7319	HP:0002162	Low posterior hairline
OMIM:300860	UBE2A	7319	HP:0000336	Prominent supraorbital ridges
OMIM:300860	UBE2A	7319	HP:0010721	Abnormal hair whorl
OMIM:300860	UBE2A	7319	HP:0000256	Macrocephaly
OMIM:300860	UBE2A	7319	HP:0001250	Seizures
OMIM:300860	UBE2A	7319	HP:0002164	Nail dysplasia
OMIM:300860	UBE2A	7319	HP:0000272	Malar flattening
OMIM:300860	UBE2A	7319	HP:0000475	Broad neck
OMIM:300860	UBE2A	7319	HP:0000154	Wide mouth
OMIM:300860	UBE2A	7319	HP:0011356	Regional abnormality of skin
OMIM:300860	UBE2A	7319	HP:0000054	Micropenis
OMIM:300860	UBE2A	7319	HP:0011800	Midface retrusion
OMIM:300860	UBE2A	7319	HP:0002714	Downturned corners of mouth
OMIM:300860	UBE2A	7319	HP:0004324	Increased body weight
OMIM:300860	UBE2A	7319	HP:0010055	Broad hallux
OMIM:300860	UBE2A	7319	HP:0000233	Thin vermilion border
OMIM:300860	UBE2A	7319	HP:0001419	X-linked recessive inheritance
OMIM:300860	UBE2A	7319	HP:0006610	Wide intermamillary distance
OMIM:300860	UBE2A	7319	HP:0001763	Pes planus
OMIM:300860	UBE2A	7319	HP:0002465	Poor speech
OMIM:300860	UBE2A	7319	HP:0005280	Depressed nasal bridge
OMIM:300860	UBE2A	7319	HP:0001249	Intellectual disability
OMIM:300860	UBE2A	7319	HP:0001773	Short foot
OMIM:300860	UBE2A	7319	HP:0000470	Short neck
OMIM:300860	UBE2A	7319	HP:0000664	Synophrys
OMIM:300860	UBE2A	7319	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:300860	UBE2A	7319	HP:0000283	Broad face
OMIM:300860	UBE2A	7319	HP:0000958	Dry skin
OMIM:300860	UBE2A	7319	HP:0000718	Aggressive behavior
OMIM:300860	UBE2A	7319	HP:0001007	Hirsutism
OMIM:300860	UBE2A	7319	HP:0008404	Nail dystrophy
OMIM:300860	UBE2A	7319	HP:0000490	Deeply set eye
OMIM:300860	UBE2A	7319	HP:0010529	Echolalia
OMIM:300514	FANCB	2187	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCB	2187	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCB	2187	HP:0002119	Ventriculomegaly
OMIM:300514	FANCB	2187	HP:0000104	Renal agenesis
OMIM:300514	FANCB	2187	HP:0003974	Absent radius
OMIM:300514	FANCB	2187	HP:0009777	Absent thumb
OMIM:300514	FANCB	2187	HP:0001903	Anemia
OMIM:300514	FANCB	2187	HP:0001510	Growth delay
OMIM:300514	FANCB	2187	HP:0003468	Abnormal vertebral morphology
OMIM:300514	FANCB	2187	HP:0000369	Low-set ears
OMIM:615767	IL21	59067	HP:0002721	Immunodeficiency
OMIM:615767	IL21	59067	HP:0000007	Autosomal recessive inheritance
OMIM:615767	IL21	59067	HP:0004313	Decreased antibody level in blood
OMIM:615767	IL21	59067	HP:0002205	Recurrent respiratory infections
OMIM:615767	IL21	59067	HP:0001508	Failure to thrive
OMIM:615767	IL21	59067	HP:0001510	Growth delay
OMIM:615767	IL21	59067	HP:0002037	Inflammation of the large intestine
OMIM:615767	IL21	59067	HP:0003593	Infantile onset
OMIM:615767	IL21	59067	HP:0002028	Chronic diarrhea
ORPHA:681	KCNE3	10008	HP:0003752	Episodic flaccid weakness
ORPHA:681	KCNE3	10008	HP:0012726	Episodic hypokalemia
ORPHA:681	KCNE3	10008	HP:0011998	Postprandial hyperglycemia
ORPHA:681	KCNE3	10008	HP:0003457	EMG abnormality
ORPHA:681	KCNE3	10008	HP:0009020	Exercise-induced muscle fatigue
ORPHA:681	KCNE3	10008	HP:0008153	Periodic hypokalemic paresis
ORPHA:681	KCNE3	10008	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:681	KCNE3	10008	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:681	SCN4A	6329	HP:0003752	Episodic flaccid weakness
ORPHA:681	SCN4A	6329	HP:0012726	Episodic hypokalemia
ORPHA:681	SCN4A	6329	HP:0011998	Postprandial hyperglycemia
ORPHA:681	SCN4A	6329	HP:0003457	EMG abnormality
ORPHA:681	SCN4A	6329	HP:0009020	Exercise-induced muscle fatigue
ORPHA:681	SCN4A	6329	HP:0008153	Periodic hypokalemic paresis
ORPHA:681	SCN4A	6329	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:681	SCN4A	6329	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:681	CACNA1S	779	HP:0003752	Episodic flaccid weakness
ORPHA:681	CACNA1S	779	HP:0012726	Episodic hypokalemia
ORPHA:681	CACNA1S	779	HP:0011998	Postprandial hyperglycemia
ORPHA:681	CACNA1S	779	HP:0003457	EMG abnormality
ORPHA:681	CACNA1S	779	HP:0009020	Exercise-induced muscle fatigue
ORPHA:681	CACNA1S	779	HP:0008153	Periodic hypokalemic paresis
ORPHA:681	CACNA1S	779	HP:0008180	Mildly elevated creatine phosphokinase
ORPHA:681	CACNA1S	779	HP:0012240	Increased intramyocellular lipid droplets
ORPHA:2744	ROBO3	64221	HP:0100543	Cognitive impairment
ORPHA:2744	ROBO3	64221	HP:0000470	Short neck
ORPHA:2744	ROBO3	64221	HP:0007817	Horizontal supranuclear gaze palsy
ORPHA:2744	ROBO3	64221	HP:0000639	Nystagmus
ORPHA:2744	ROBO3	64221	HP:0002650	Scoliosis
ORPHA:2744	ROBO3	64221	HP:0002808	Kyphosis
OMIM:169600	ATP2C1	27032	HP:0000006	Autosomal dominant inheritance
OMIM:169600	ATP2C1	27032	HP:0010783	Erythema
ORPHA:79241	BTD	686	HP:0005979	Metabolic ketoacidosis
ORPHA:79241	BTD	686	HP:0000648	Optic atrophy
ORPHA:79241	BTD	686	HP:0001251	Ataxia
ORPHA:79241	BTD	686	HP:0011127	Perioral eczema
ORPHA:79241	BTD	686	HP:0001263	Global developmental delay
ORPHA:79241	BTD	686	HP:0001096	Keratoconjunctivitis
ORPHA:79241	BTD	686	HP:0001252	Muscular hypotonia
ORPHA:79241	BTD	686	HP:0001596	Alopecia
ORPHA:79241	BTD	686	HP:0002123	Generalized myoclonic seizures
ORPHA:79241	BTD	686	HP:0000365	Hearing impairment
ORPHA:79241	BTD	686	HP:0007549	Desquamation of skin soon after birth
OMIM:617180	ERF	2077	HP:0000520	Proptosis
OMIM:617180	ERF	2077	HP:0005280	Depressed nasal bridge
OMIM:617180	ERF	2077	HP:0001561	Polyhydramnios
OMIM:617180	ERF	2077	HP:0002000	Short columella
OMIM:617180	ERF	2077	HP:0001156	Brachydactyly
OMIM:617180	ERF	2077	HP:0000316	Hypertelorism
OMIM:617180	ERF	2077	HP:0012471	Thick vermilion border
OMIM:617180	ERF	2077	HP:0002780	Bronchomalacia
OMIM:617180	ERF	2077	HP:0000463	Anteverted nares
OMIM:617180	ERF	2077	HP:0002205	Recurrent respiratory infections
OMIM:617180	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:617180	ERF	2077	HP:0002779	Tracheomalacia
OMIM:617180	ERF	2077	HP:0006530	Interstitial pulmonary abnormality
OMIM:612219	EWSR1	2130	HP:0001428	Somatic mutation
OMIM:612219	EWSR1	2130	HP:0012254	Ewing's sarcoma
ORPHA:93406	HOXD13	3239	HP:0001440	Metatarsal synostosis
ORPHA:93406	HOXD13	3239	HP:0009701	Metacarpal synostosis
ORPHA:93406	HOXD13	3239	HP:0006097	3-4 finger syndactyly
ORPHA:93406	HOXD13	3239	HP:0004691	2-3 toe syndactyly
ORPHA:93406	HOXD13	3239	HP:0100490	Camptodactyly of finger
ORPHA:93406	HOXD13	3239	HP:0009465	Ulnar deviation of finger
ORPHA:93406	HOXD13	3239	HP:0009882	Short distal phalanx of finger
OMIM:613731	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RHO	6010	HP:0000662	Nyctalopia
OMIM:613731	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RHO	6010	HP:0001123	Visual field defect
OMIM:613731	RHO	6010	HP:0000518	Cataract
OMIM:613731	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613731	RHO	6010	HP:0000512	Abnormal electroretinogram
ORPHA:231222	HBB	3043	HP:0003281	Increased serum ferritin
ORPHA:231222	HBB	3043	HP:0001744	Splenomegaly
ORPHA:231222	HBB	3043	HP:0002240	Hepatomegaly
ORPHA:231222	HBB	3043	HP:0001081	Cholelithiasis
ORPHA:231222	HBB	3043	HP:0001935	Microcytic anemia
ORPHA:231222	HBB	3043	HP:0011902	Abnormal hemoglobin
ORPHA:231222	HBB	3043	HP:0000924	Abnormality of the skeletal system
OMIM:617021	LARS2	23395	HP:0001629	Ventricular septal defect
OMIM:617021	LARS2	23395	HP:0002353	EEG abnormality
OMIM:617021	LARS2	23395	HP:0011675	Arrhythmia
OMIM:617021	LARS2	23395	HP:0001643	Patent ductus arteriosus
OMIM:617021	LARS2	23395	HP:0003128	Lactic acidosis
OMIM:617021	LARS2	23395	HP:0001924	Sideroblastic anemia
OMIM:617021	LARS2	23395	HP:0001410	Decreased liver function
OMIM:617021	LARS2	23395	HP:0001511	Intrauterine growth retardation
OMIM:617021	LARS2	23395	HP:0001562	Oligohydramnios
OMIM:617021	LARS2	23395	HP:0002093	Respiratory insufficiency
OMIM:617021	LARS2	23395	HP:0001873	Thrombocytopenia
OMIM:617021	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:617021	LARS2	23395	HP:0001250	Seizures
OMIM:617021	LARS2	23395	HP:0003577	Congenital onset
OMIM:608340	GDAP1	54332	HP:0001762	Talipes equinovarus
OMIM:608340	GDAP1	54332	HP:0001265	Hyporeflexia
OMIM:608340	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:608340	GDAP1	54332	HP:0002650	Scoliosis
OMIM:608340	GDAP1	54332	HP:0009830	Peripheral neuropathy
OMIM:608340	GDAP1	54332	HP:0003690	Limb muscle weakness
OMIM:608340	GDAP1	54332	HP:0001761	Pes cavus
OMIM:608340	GDAP1	54332	HP:0003445	EMG: neuropathic changes
OMIM:608340	GDAP1	54332	HP:0003383	Onion bulb formation
OMIM:608340	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:608340	GDAP1	54332	HP:0011463	Childhood onset
OMIM:608340	GDAP1	54332	HP:0001284	Areflexia
OMIM:608340	GDAP1	54332	HP:0011096	Peripheral demyelination
OMIM:608340	GDAP1	54332	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:608340	GDAP1	54332	HP:0001178	Ulnar claw
OMIM:608340	GDAP1	54332	HP:0003376	Steppage gait
OMIM:608340	GDAP1	54332	HP:0009027	Foot dorsiflexor weakness
OMIM:608340	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
ORPHA:217622	EYA4	2070	HP:0001635	Congestive heart failure
ORPHA:217622	EYA4	2070	HP:0030872	Abnormal cardiac ventricular function
ORPHA:217622	EYA4	2070	HP:0000365	Hearing impairment
ORPHA:217622	EYA4	2070	HP:0001644	Dilated cardiomyopathy
ORPHA:217622	EYA4	2070	HP:0040268	Recurrent infections of the middle ear
OMIM:241500	ALPL	249	HP:0003021	Metaphyseal cupping
OMIM:241500	ALPL	249	HP:0002659	Increased susceptibility to fractures
OMIM:241500	ALPL	249	HP:0008428	Vertebral clefting
OMIM:241500	ALPL	249	HP:0000592	Blue sclerae
OMIM:241500	ALPL	249	HP:0003491	Elevated urine pyrophosphate
OMIM:241500	ALPL	249	HP:0000897	Rachitic rosary
OMIM:241500	ALPL	249	HP:0004606	Unossified vertebral bodies
OMIM:241500	ALPL	249	HP:0008873	Disproportionate short-limb short stature
OMIM:241500	ALPL	249	HP:0002013	Vomiting
OMIM:241500	ALPL	249	HP:0002104	Apnea
OMIM:241500	ALPL	249	HP:0000121	Nephrocalcinosis
OMIM:241500	ALPL	249	HP:0001290	Generalized hypotonia
OMIM:241500	ALPL	249	HP:0000926	Platyspondyly
OMIM:241500	ALPL	249	HP:0000164	Abnormality of the dentition
OMIM:241500	ALPL	249	HP:0001522	Death in infancy
OMIM:241500	ALPL	249	HP:0003239	Phosphoethanolaminuria
OMIM:241500	ALPL	249	HP:0002205	Recurrent respiratory infections
OMIM:241500	ALPL	249	HP:0011864	Elevated plasma pyrophosphate
OMIM:241500	ALPL	249	HP:0001508	Failure to thrive
OMIM:241500	ALPL	249	HP:0000737	Irritability
OMIM:241500	ALPL	249	HP:0001608	Abnormality of the voice
OMIM:241500	ALPL	249	HP:0002150	Hypercalciuria
OMIM:241500	ALPL	249	HP:0003826	Stillbirth
OMIM:241500	ALPL	249	HP:0006385	Short lower limbs
OMIM:241500	ALPL	249	HP:0001945	Fever
OMIM:241500	ALPL	249	HP:0005474	Decreased calvarial ossification
OMIM:241500	ALPL	249	HP:0001903	Anemia
OMIM:241500	ALPL	249	HP:0002979	Bowing of the legs
OMIM:241500	ALPL	249	HP:0003072	Hypercalcemia
OMIM:241500	ALPL	249	HP:0002983	Micromelia
OMIM:241500	ALPL	249	HP:0004492	Widely patent fontanelles and sutures
OMIM:241500	ALPL	249	HP:0000773	Short ribs
OMIM:241500	ALPL	249	HP:0002170	Intracranial hemorrhage
OMIM:241500	ALPL	249	HP:0001024	Skin dimple over apex of long bone angulation
OMIM:241500	ALPL	249	HP:0001363	Craniosynostosis
OMIM:241500	ALPL	249	HP:0002019	Constipation
OMIM:241500	ALPL	249	HP:0001250	Seizures
OMIM:241500	ALPL	249	HP:0001561	Polyhydramnios
OMIM:241500	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:241500	ALPL	249	HP:0002039	Anorexia
ORPHA:329249	SH2B1	25970	HP:0000750	Delayed speech and language development
ORPHA:329249	SH2B1	25970	HP:0002591	Polyphagia
ORPHA:329249	SH2B1	25970	HP:0000842	Hyperinsulinemia
ORPHA:329249	SH2B1	25970	HP:0001513	Obesity
ORPHA:329249	SH2B1	25970	HP:0004322	Short stature
ORPHA:329249	SH2B1	25970	HP:0000718	Aggressive behavior
ORPHA:329249	SH2B1	25970	HP:0008763	No social interaction
ORPHA:35612	MFRP	83552	HP:0000501	Glaucoma
ORPHA:35612	MFRP	83552	HP:0000568	Microphthalmia
ORPHA:35612	MFRP	83552	HP:0000486	Strabismus
ORPHA:35612	MFRP	83552	HP:0000610	Abnormality of the choroid
ORPHA:35612	MFRP	83552	HP:0008499	High-grade hypermetropia
ORPHA:35612	TMEM98	26022	HP:0000501	Glaucoma
ORPHA:35612	TMEM98	26022	HP:0000568	Microphthalmia
ORPHA:35612	TMEM98	26022	HP:0000486	Strabismus
ORPHA:35612	TMEM98	26022	HP:0000610	Abnormality of the choroid
ORPHA:35612	TMEM98	26022	HP:0008499	High-grade hypermetropia
ORPHA:35612	PRSS56	646960	HP:0000501	Glaucoma
ORPHA:35612	PRSS56	646960	HP:0000568	Microphthalmia
ORPHA:35612	PRSS56	646960	HP:0000486	Strabismus
ORPHA:35612	PRSS56	646960	HP:0000610	Abnormality of the choroid
ORPHA:35612	PRSS56	646960	HP:0008499	High-grade hypermetropia
OMIM:617050	AP3D1	8943	HP:0002240	Hepatomegaly
OMIM:617050	AP3D1	8943	HP:0001107	Ocular albinism
OMIM:617050	AP3D1	8943	HP:0008936	Muscular hypotonia of the trunk
OMIM:617050	AP3D1	8943	HP:0000007	Autosomal recessive inheritance
OMIM:617050	AP3D1	8943	HP:0011968	Feeding difficulties
OMIM:617050	AP3D1	8943	HP:0012448	Delayed myelination
OMIM:617050	AP3D1	8943	HP:0000278	Retrognathia
OMIM:617050	AP3D1	8943	HP:0000601	Hypotelorism
OMIM:617050	AP3D1	8943	HP:0001332	Dystonia
OMIM:617050	AP3D1	8943	HP:0002205	Recurrent respiratory infections
OMIM:617050	AP3D1	8943	HP:0000252	Microcephaly
OMIM:617050	AP3D1	8943	HP:0001875	Neutropenia
OMIM:617050	AP3D1	8943	HP:0002721	Immunodeficiency
OMIM:617050	AP3D1	8943	HP:0000400	Macrotia
OMIM:617050	AP3D1	8943	HP:0000319	Smooth philtrum
OMIM:617050	AP3D1	8943	HP:0006530	Interstitial pulmonary abnormality
OMIM:617050	AP3D1	8943	HP:0001744	Splenomegaly
OMIM:617050	AP3D1	8943	HP:0002353	EEG abnormality
OMIM:617050	AP3D1	8943	HP:0003593	Infantile onset
OMIM:617050	AP3D1	8943	HP:0000369	Low-set ears
OMIM:617050	AP3D1	8943	HP:0000639	Nystagmus
OMIM:617050	AP3D1	8943	HP:0002059	Cerebral atrophy
OMIM:617050	AP3D1	8943	HP:0002069	Generalized tonic-clonic seizures
OMIM:617050	AP3D1	8943	HP:0002123	Generalized myoclonic seizures
OMIM:617050	AP3D1	8943	HP:0001290	Generalized hypotonia
OMIM:614891	IL12RB1	3594	HP:0002721	Immunodeficiency
OMIM:614891	IL12RB1	3594	HP:0011274	Recurrent mycobacterial infections
OMIM:614891	IL12RB1	3594	HP:0000007	Autosomal recessive inheritance
OMIM:608810	CRYAB	1410	HP:0003581	Adult onset
OMIM:608810	CRYAB	1410	HP:0003555	Muscle fiber splitting
OMIM:608810	CRYAB	1410	HP:0003736	Autophagic vacuoles
OMIM:608810	CRYAB	1410	HP:0003694	Late-onset proximal muscle weakness
OMIM:608810	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:608810	CRYAB	1410	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608810	CRYAB	1410	HP:0002460	Distal muscle weakness
OMIM:608810	CRYAB	1410	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608810	CRYAB	1410	HP:0000518	Cataract
OMIM:608810	CRYAB	1410	HP:0003325	Limb-girdle muscle weakness
OMIM:608810	CRYAB	1410	HP:0003560	Muscular dystrophy
OMIM:608810	CRYAB	1410	HP:0009027	Foot dorsiflexor weakness
OMIM:608810	CRYAB	1410	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608810	CRYAB	1410	HP:0003677	Slow progression
OMIM:608810	CRYAB	1410	HP:0000467	Neck muscle weakness
OMIM:608810	CRYAB	1410	HP:0003458	EMG: myopathic abnormalities
OMIM:608810	CRYAB	1410	HP:0009072	Decreased Achilles reflex
OMIM:608634	HSPB1	3315	HP:0002522	Areflexia of lower limbs
OMIM:608634	HSPB1	3315	HP:0003445	EMG: neuropathic changes
OMIM:608634	HSPB1	3315	HP:0009830	Peripheral neuropathy
OMIM:608634	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:608634	HSPB1	3315	HP:0002600	Hyporeflexia of lower limbs
OMIM:608634	HSPB1	3315	HP:0002355	Difficulty walking
OMIM:608634	HSPB1	3315	HP:0003677	Slow progression
OMIM:608634	HSPB1	3315	HP:0009053	Distal lower limb muscle weakness
OMIM:608634	HSPB1	3315	HP:0003581	Adult onset
OMIM:608634	HSPB1	3315	HP:0002601	Paresis of extensor muscles of the big toe
OMIM:616094	POMK	84197	HP:0001270	Motor delay
OMIM:616094	POMK	84197	HP:0003391	Gowers sign
OMIM:616094	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:616094	POMK	84197	HP:0003593	Infantile onset
OMIM:616094	POMK	84197	HP:0100543	Cognitive impairment
OMIM:616094	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:616094	POMK	84197	HP:0001265	Hyporeflexia
OMIM:616094	POMK	84197	HP:0001319	Neonatal hypotonia
OMIM:616094	POMK	84197	HP:0003551	Difficulty climbing stairs
OMIM:616094	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:152950	KIF11	3832	HP:0007731	Chorioretinal dysplasia
OMIM:152950	KIF11	3832	HP:0000411	Protruding ear
OMIM:152950	KIF11	3832	HP:0000006	Autosomal dominant inheritance
OMIM:152950	KIF11	3832	HP:0000286	Epicanthus
OMIM:152950	KIF11	3832	HP:0000179	Thick lower lip vermilion
OMIM:152950	KIF11	3832	HP:0001256	Intellectual disability, mild
OMIM:152950	KIF11	3832	HP:0005469	Flat occiput
OMIM:152950	KIF11	3832	HP:0000219	Thin upper lip vermilion
OMIM:152950	KIF11	3832	HP:0009879	Cortical gyral simplification
OMIM:152950	KIF11	3832	HP:0000494	Downslanted palpebral fissures
OMIM:152950	KIF11	3832	HP:0000455	Broad nasal tip
OMIM:152950	KIF11	3832	HP:0000303	Mandibular prognathia
OMIM:152950	KIF11	3832	HP:0000340	Sloping forehead
OMIM:152950	KIF11	3832	HP:0000343	Long philtrum
OMIM:152950	KIF11	3832	HP:0007018	Attention deficit hyperactivity disorder
OMIM:152950	KIF11	3832	HP:0000463	Anteverted nares
OMIM:152950	KIF11	3832	HP:0000252	Microcephaly
OMIM:152950	KIF11	3832	HP:0001004	Lymphedema
OMIM:152950	KIF11	3832	HP:0002002	Deep philtrum
OMIM:152950	KIF11	3832	HP:0005280	Depressed nasal bridge
OMIM:612124	CSRP3	8048	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612124	CSRP3	8048	HP:0001638	Cardiomyopathy
OMIM:612124	CSRP3	8048	HP:0001645	Sudden cardiac death
OMIM:612124	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:612124	CSRP3	8048	HP:0004756	Ventricular tachycardia
OMIM:614256	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:607078	MATN3	4148	HP:0002857	Genu valgum
OMIM:607078	MATN3	4148	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:607078	MATN3	4148	HP:0002654	Multiple epiphyseal dysplasia
OMIM:607078	MATN3	4148	HP:0001216	Delayed ossification of carpal bones
OMIM:607078	MATN3	4148	HP:0001425	Heterogeneous
OMIM:607078	MATN3	4148	HP:0010582	Irregular epiphyses
OMIM:607078	MATN3	4148	HP:0006429	Broad femoral neck
OMIM:607078	MATN3	4148	HP:0002812	Coxa vara
OMIM:607078	MATN3	4148	HP:0003025	Metaphyseal irregularity
OMIM:607078	MATN3	4148	HP:0010585	Small epiphyses
OMIM:607078	MATN3	4148	HP:0100864	Short femoral neck
OMIM:607078	MATN3	4148	HP:0000006	Autosomal dominant inheritance
OMIM:607078	MATN3	4148	HP:0002656	Epiphyseal dysplasia
OMIM:607078	MATN3	4148	HP:0002829	Arthralgia
OMIM:607078	MATN3	4148	HP:0003088	Premature osteoarthritis
OMIM:607078	MATN3	4148	HP:0008103	Delayed tarsal ossification
OMIM:607078	MATN3	4148	HP:0003365	Arthralgia of the hip
OMIM:611638	SHH	6469	HP:0007633	Bilateral microphthalmos
OMIM:611638	SHH	6469	HP:0003829	Incomplete penetrance
OMIM:611638	SHH	6469	HP:0007748	Irido-fundal coloboma
OMIM:611638	SHH	6469	HP:0003828	Variable expressivity
OMIM:611638	SHH	6469	HP:0000568	Microphthalmia
OMIM:611638	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:611638	SHH	6469	HP:0000504	Abnormality of vision
ORPHA:85198	COL2A1	1280	HP:0002751	Kyphoscoliosis
ORPHA:85198	COL2A1	1280	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:85198	COL2A1	1280	HP:0005868	Metaphyseal enchondromatosis
ORPHA:85198	COL2A1	1280	HP:0001373	Joint dislocation
ORPHA:85198	COL2A1	1280	HP:0005701	Multiple enchondromatosis
ORPHA:85198	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:85198	COL2A1	1280	HP:0003037	Enlarged joints
ORPHA:85198	COL2A1	1280	HP:0004039	Abnormality of ulnar metaphysis
ORPHA:85198	COL2A1	1280	HP:0100559	Lower limb asymmetry
ORPHA:85198	COL2A1	1280	HP:0100777	Exostoses
ORPHA:85198	COL2A1	1280	HP:0003422	Vertebral segmentation defect
ORPHA:85198	COL2A1	1280	HP:0002750	Delayed skeletal maturation
ORPHA:85198	COL2A1	1280	HP:0002991	Abnormality of fibula morphology
ORPHA:85198	COL2A1	1280	HP:0200041	Skin erosion
ORPHA:85198	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHA:85198	COL2A1	1280	HP:0002761	Generalized joint laxity
ORPHA:85198	COL2A1	1280	HP:0002879	Anisospondyly
ORPHA:85198	COL2A1	1280	HP:0012221	Pretibial blistering
ORPHA:85198	COL2A1	1280	HP:0002857	Genu valgum
ORPHA:85198	COL2A1	1280	HP:0004322	Short stature
OMIM:615926	ARNT2	9915	HP:0001263	Global developmental delay
OMIM:615926	ARNT2	9915	HP:0008245	Pituitary hypothyroidism
OMIM:615926	ARNT2	9915	HP:0000028	Cryptorchidism
OMIM:615926	ARNT2	9915	HP:0000011	Neurogenic bladder
OMIM:615926	ARNT2	9915	HP:0000252	Microcephaly
OMIM:615926	ARNT2	9915	HP:0000490	Deeply set eye
OMIM:615926	ARNT2	9915	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615926	ARNT2	9915	HP:0002827	Hip dislocation
OMIM:615926	ARNT2	9915	HP:0000007	Autosomal recessive inheritance
OMIM:615926	ARNT2	9915	HP:0000278	Retrognathia
OMIM:615926	ARNT2	9915	HP:0001250	Seizures
OMIM:615926	ARNT2	9915	HP:0001257	Spasticity
OMIM:615926	ARNT2	9915	HP:0012448	Delayed myelination
OMIM:615926	ARNT2	9915	HP:0000824	Growth hormone deficiency
OMIM:615926	ARNT2	9915	HP:0000126	Hydronephrosis
OMIM:615926	ARNT2	9915	HP:0011220	Prominent forehead
OMIM:615926	ARNT2	9915	HP:0005484	Postnatal microcephaly
OMIM:615926	ARNT2	9915	HP:0002020	Gastroesophageal reflux
OMIM:615926	ARNT2	9915	HP:0003228	Hypernatremia
OMIM:615926	ARNT2	9915	HP:0000873	Diabetes insipidus
OMIM:615926	ARNT2	9915	HP:0000076	Vesicoureteral reflux
OMIM:210900	BLM	641	HP:0000992	Cutaneous photosensitivity
OMIM:210900	BLM	641	HP:0005598	Facial telangiectasia in butterfly midface distribution
OMIM:210900	BLM	641	HP:0001909	Leukemia
OMIM:210900	BLM	641	HP:0004209	Clinodactyly of the 5th finger
OMIM:210900	BLM	641	HP:0000690	Agenesis of maxillary lateral incisor
OMIM:210900	BLM	641	HP:0000868	Decreased fertility in females
OMIM:210900	BLM	641	HP:0005590	Spotty hypopigmentation
OMIM:210900	BLM	641	HP:0001161	Hand polydactyly
OMIM:210900	BLM	641	HP:0002850	IgM deficiency
OMIM:210900	BLM	641	HP:0001159	Syndactyly
OMIM:210900	BLM	641	HP:0000027	Azoospermia
OMIM:210900	BLM	641	HP:0000028	Cryptorchidism
OMIM:210900	BLM	641	HP:0002860	Squamous cell carcinoma
OMIM:210900	BLM	641	HP:0001620	High pitched voice
OMIM:210900	BLM	641	HP:0000411	Protruding ear
OMIM:210900	BLM	641	HP:0002110	Bronchiectasis
OMIM:210900	BLM	641	HP:0040012	Chromosome breakage
OMIM:210900	BLM	641	HP:0000957	Cafe-au-lait spot
OMIM:210900	BLM	641	HP:0000268	Dolichocephaly
OMIM:210900	BLM	641	HP:0000272	Malar flattening
OMIM:210900	BLM	641	HP:0002665	Lymphoma
OMIM:210900	BLM	641	HP:0002720	IgA deficiency
OMIM:210900	BLM	641	HP:0000007	Autosomal recessive inheritance
OMIM:210900	BLM	641	HP:0001511	Intrauterine growth retardation
OMIM:210900	BLM	641	HP:0000448	Prominent nose
OMIM:210900	BLM	641	HP:0005978	Type II diabetes mellitus
OMIM:210900	BLM	641	HP:0000998	Hypertrichosis
OMIM:210900	BLM	641	HP:0001328	Specific learning disability
OMIM:210900	BLM	641	HP:0004315	IgG deficiency
OMIM:210900	BLM	641	HP:0000252	Microcephaly
OMIM:210900	BLM	641	HP:0008897	Postnatal growth retardation
OMIM:210900	BLM	641	HP:0006528	Chronic lung disease
OMIM:210900	BLM	641	HP:0005585	Spotty hyperpigmentation
OMIM:210900	BLM	641	HP:0000275	Narrow face
OMIM:609006	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ESPN	83715	HP:0008568	Vestibular areflexia
OMIM:609006	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:200610	COL2A1	1280	HP:0000773	Short ribs
OMIM:200610	COL2A1	1280	HP:0000476	Cystic hygroma
OMIM:200610	COL2A1	1280	HP:0000888	Horizontal ribs
OMIM:200610	COL2A1	1280	HP:0002866	Hypoplastic iliac wing
OMIM:200610	COL2A1	1280	HP:0004605	Absent vertebral body mineralization
OMIM:200610	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:200610	COL2A1	1280	HP:0003826	Stillbirth
OMIM:200610	COL2A1	1280	HP:0000175	Cleft palate
OMIM:200610	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:200610	COL2A1	1280	HP:0005622	Broad long bones
OMIM:200610	COL2A1	1280	HP:0001248	Short tubular bones of the hand
OMIM:200610	COL2A1	1280	HP:0001561	Polyhydramnios
OMIM:200610	COL2A1	1280	HP:0000969	Edema
OMIM:200610	COL2A1	1280	HP:0003521	Disproportionate short-trunk short stature
OMIM:200610	COL2A1	1280	HP:0003270	Abdominal distention
OMIM:200610	COL2A1	1280	HP:0008873	Disproportionate short-limb short stature
OMIM:200610	COL2A1	1280	HP:0003026	Short long bone
OMIM:200610	COL2A1	1280	HP:0001789	Hydrops fetalis
OMIM:200610	COL2A1	1280	HP:0001760	Abnormality of the foot
OMIM:218030	HSD11B2	3291	HP:0004319	Decreased circulating aldosterone level
OMIM:218030	HSD11B2	3291	HP:0200114	Metabolic alkalosis
OMIM:218030	HSD11B2	3291	HP:0000822	Hypertension
OMIM:218030	HSD11B2	3291	HP:0001508	Failure to thrive
OMIM:218030	HSD11B2	3291	HP:0001095	Hypertensive retinopathy
OMIM:218030	HSD11B2	3291	HP:0003828	Variable expressivity
OMIM:218030	HSD11B2	3291	HP:0004322	Short stature
OMIM:218030	HSD11B2	3291	HP:0000007	Autosomal recessive inheritance
OMIM:218030	HSD11B2	3291	HP:0002900	Hypokalemia
OMIM:218030	HSD11B2	3291	HP:0001518	Small for gestational age
OMIM:218030	HSD11B2	3291	HP:0003351	Decreased circulating renin level
OMIM:115900	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:115900	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:141500	CACNA1A	773	HP:0002301	Hemiplegia
OMIM:141500	CACNA1A	773	HP:0008765	Auditory hallucinations
OMIM:141500	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:141500	CACNA1A	773	HP:0000713	Agitation
OMIM:141500	CACNA1A	773	HP:0001125	Transient unilateral blurring of vision
OMIM:141500	CACNA1A	773	HP:0000709	Psychosis
OMIM:141500	CACNA1A	773	HP:0001289	Confusion
OMIM:141500	CACNA1A	773	HP:0001259	Coma
OMIM:141500	CACNA1A	773	HP:0002329	Drowsiness
OMIM:141500	CACNA1A	773	HP:0001945	Fever
OMIM:141500	CACNA1A	773	HP:0002357	Dysphasia
OMIM:141500	CACNA1A	773	HP:0000739	Anxiety
OMIM:141500	CACNA1A	773	HP:0001272	Cerebellar atrophy
OMIM:141500	CACNA1A	773	HP:0001269	Hemiparesis
OMIM:141500	CACNA1A	773	HP:0001425	Heterogeneous
OMIM:141500	CACNA1A	773	HP:0000639	Nystagmus
OMIM:141500	CACNA1A	773	HP:0002077	Migraine with aura
OMIM:141500	CACNA1A	773	HP:0001251	Ataxia
OMIM:141500	CACNA1A	773	HP:0002442	Dyscalculia
OMIM:141500	CACNA1A	773	HP:0002367	Visual hallucinations
OMIM:613800	ORC4	5000	HP:0002779	Tracheomalacia
OMIM:613800	ORC4	5000	HP:0002780	Bronchomalacia
OMIM:613800	ORC4	5000	HP:0008665	Clitoral hypertrophy
OMIM:613800	ORC4	5000	HP:0000160	Narrow mouth
OMIM:613800	ORC4	5000	HP:0001620	High pitched voice
OMIM:613800	ORC4	5000	HP:0008551	Microtia
OMIM:613800	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:613800	ORC4	5000	HP:0003561	Birth length less than 3rd percentile
OMIM:613800	ORC4	5000	HP:0002020	Gastroesophageal reflux
OMIM:613800	ORC4	5000	HP:0000252	Microcephaly
OMIM:613800	ORC4	5000	HP:0001382	Joint hypermobility
OMIM:613800	ORC4	5000	HP:0000319	Smooth philtrum
OMIM:613800	ORC4	5000	HP:0003187	Breast hypoplasia
OMIM:613800	ORC4	5000	HP:0011968	Feeding difficulties
OMIM:613800	ORC4	5000	HP:0000059	Hypoplastic labia majora
OMIM:613800	ORC4	5000	HP:0001508	Failure to thrive
OMIM:613800	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:613800	ORC4	5000	HP:0000347	Micrognathia
OMIM:613800	ORC4	5000	HP:0000268	Dolichocephaly
OMIM:613800	ORC4	5000	HP:0000430	Underdeveloped nasal alae
OMIM:613800	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:613800	ORC4	5000	HP:0003100	Slender long bone
OMIM:137580	SLITRK1	114798	HP:0000718	Aggressive behavior
OMIM:137580	SLITRK1	114798	HP:0002360	Sleep disturbance
OMIM:137580	SLITRK1	114798	HP:0000006	Autosomal dominant inheritance
OMIM:137580	SLITRK1	114798	HP:0000742	Self-mutilation
OMIM:137580	SLITRK1	114798	HP:0100034	Motor tics
OMIM:137580	SLITRK1	114798	HP:0000722	Obsessive-compulsive behavior
OMIM:137580	SLITRK1	114798	HP:0100035	Phonic tics
OMIM:137580	SLITRK1	114798	HP:0007018	Attention deficit hyperactivity disorder
OMIM:137580	SLITRK1	114798	HP:0010529	Echolalia
ORPHA:247691	TREX1	11277	HP:0002076	Migraine
ORPHA:247691	TREX1	11277	HP:0000488	Retinopathy
ORPHA:247691	TREX1	11277	HP:0000505	Visual impairment
ORPHA:247691	TREX1	11277	HP:0001297	Stroke
ORPHA:247691	TREX1	11277	HP:0001260	Dysarthria
ORPHA:247691	TREX1	11277	HP:0001250	Seizures
ORPHA:247691	TREX1	11277	HP:0000708	Behavioral abnormality
ORPHA:247691	TREX1	11277	HP:0002186	Apraxia
ORPHA:247691	TREX1	11277	HP:0001269	Hemiparesis
ORPHA:247691	TREX1	11277	HP:0001268	Mental deterioration
ORPHA:247691	TREX1	11277	HP:0002415	Leukodystrophy
ORPHA:247691	TREX1	11277	HP:0000529	Progressive visual loss
ORPHA:247691	TREX1	11277	HP:0007042	Focal white matter lesions
ORPHA:247691	TREX1	11277	HP:0008046	Abnormality of the retinal vasculature
OMIM:260500	TP53	7157	HP:0002013	Vomiting
OMIM:260500	TP53	7157	HP:0002315	Headache
OMIM:260500	TP53	7157	HP:0000238	Hydrocephalus
OMIM:260500	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:260500	TP53	7157	HP:0200022	Choroid plexus papilloma
OMIM:260500	TP53	7157	HP:0001250	Seizures
OMIM:260500	TP53	7157	HP:0001085	Papilledema
OMIM:260500	TP53	7157	HP:0002018	Nausea
OMIM:260500	TP53	7157	HP:0000007	Autosomal recessive inheritance
OMIM:607174	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:607174	NF2	4771	HP:0002858	Meningioma
OMIM:607174	NF2	4771	HP:0003581	Adult onset
OMIM:607174	NF2	4771	HP:0003829	Incomplete penetrance
OMIM:607174	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:607174	PDGFB	5155	HP:0002858	Meningioma
OMIM:607174	PDGFB	5155	HP:0003581	Adult onset
OMIM:607174	PDGFB	5155	HP:0003829	Incomplete penetrance
OMIM:607174	MN1	4330	HP:0000006	Autosomal dominant inheritance
OMIM:607174	MN1	4330	HP:0002858	Meningioma
OMIM:607174	MN1	4330	HP:0003581	Adult onset
OMIM:607174	MN1	4330	HP:0003829	Incomplete penetrance
OMIM:188000	MASTL	84930	HP:0000978	Bruising susceptibility
OMIM:188000	MASTL	84930	HP:0000006	Autosomal dominant inheritance
OMIM:188000	MASTL	84930	HP:0001873	Thrombocytopenia
OMIM:188000	ANKRD26	22852	HP:0000978	Bruising susceptibility
OMIM:188000	ANKRD26	22852	HP:0000006	Autosomal dominant inheritance
OMIM:188000	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:200990	KIF7	374654	HP:0000260	Wide anterior fontanel
OMIM:200990	KIF7	374654	HP:0009942	Duplication of thumb phalanx
OMIM:200990	KIF7	374654	HP:0001510	Growth delay
OMIM:200990	KIF7	374654	HP:0000384	Preauricular skin tag
OMIM:200990	KIF7	374654	HP:0009611	Bifid distal phalanx of the thumb
OMIM:200990	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:200990	KIF7	374654	HP:0001641	Abnormal pulmonary valve morphology
OMIM:200990	KIF7	374654	HP:0004209	Clinodactyly of the 5th finger
OMIM:200990	KIF7	374654	HP:0000269	Prominent occiput
OMIM:200990	KIF7	374654	HP:0001671	Abnormality of the cardiac septa
OMIM:200990	KIF7	374654	HP:0003812	Phenotypic variability
OMIM:200990	KIF7	374654	HP:0011220	Prominent forehead
OMIM:200990	KIF7	374654	HP:0001841	Preaxial foot polydactyly
OMIM:200990	KIF7	374654	HP:0000337	Broad forehead
OMIM:200990	KIF7	374654	HP:0001770	Toe syndactyly
OMIM:200990	KIF7	374654	HP:0010864	Intellectual disability, severe
OMIM:200990	KIF7	374654	HP:0001537	Umbilical hernia
OMIM:200990	KIF7	374654	HP:0001425	Heterogeneous
OMIM:200990	KIF7	374654	HP:0007894	Hypopigmentation of the fundus
OMIM:200990	KIF7	374654	HP:0000207	Triangular mouth
OMIM:200990	KIF7	374654	HP:0010066	Duplication of phalanx of hallux
OMIM:200990	KIF7	374654	HP:0001162	Postaxial hand polydactyly
OMIM:200990	KIF7	374654	HP:0002023	Anal atresia
OMIM:200990	KIF7	374654	HP:0001156	Brachydactyly
OMIM:200990	KIF7	374654	HP:0000006	Autosomal dominant inheritance
OMIM:200990	KIF7	374654	HP:0000494	Downslanted palpebral fissures
OMIM:200990	KIF7	374654	HP:0000286	Epicanthus
OMIM:200990	KIF7	374654	HP:0003196	Short nose
OMIM:200990	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:200990	KIF7	374654	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:200990	KIF7	374654	HP:0000143	Rectovaginal fistula
OMIM:200990	KIF7	374654	HP:0006101	Finger syndactyly
OMIM:200990	KIF7	374654	HP:0008897	Postnatal growth retardation
OMIM:200990	KIF7	374654	HP:0000023	Inguinal hernia
OMIM:200990	KIF7	374654	HP:0001177	Preaxial hand polydactyly
OMIM:200990	KIF7	374654	HP:0001830	Postaxial foot polydactyly
OMIM:200990	KIF7	374654	HP:0001508	Failure to thrive
OMIM:150250	FLNB	2317	HP:0000768	Pectus carinatum
OMIM:150250	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:150250	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:150250	FLNB	2317	HP:0002777	Tracheal stenosis
OMIM:150250	FLNB	2317	HP:0004568	Beaking of vertebral bodies
OMIM:150250	FLNB	2317	HP:0003298	Spina bifida occulta
OMIM:150250	FLNB	2317	HP:0001511	Intrauterine growth retardation
OMIM:150250	FLNB	2317	HP:0001388	Joint laxity
OMIM:150250	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:150250	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:150250	FLNB	2317	HP:0000316	Hypertelorism
OMIM:150250	FLNB	2317	HP:0008434	Hypoplastic cervical vertebrae
OMIM:150250	FLNB	2317	HP:0001799	Short nail
OMIM:150250	FLNB	2317	HP:0002650	Scoliosis
OMIM:150250	FLNB	2317	HP:0002947	Cervical kyphosis
OMIM:150250	FLNB	2317	HP:0000272	Malar flattening
OMIM:150250	FLNB	2317	HP:0008127	Bipartite calcaneus
OMIM:150250	FLNB	2317	HP:0000767	Pectus excavatum
OMIM:150250	FLNB	2317	HP:0001724	Aortic dilatation
OMIM:150250	FLNB	2317	HP:0006067	Multiple carpal ossification centers
OMIM:150250	FLNB	2317	HP:0011220	Prominent forehead
OMIM:150250	FLNB	2317	HP:0001629	Ventricular septal defect
OMIM:150250	FLNB	2317	HP:0000405	Conductive hearing impairment
OMIM:150250	FLNB	2317	HP:0001249	Intellectual disability
OMIM:150250	FLNB	2317	HP:0010743	Short metatarsal
OMIM:150250	FLNB	2317	HP:0010049	Short metacarpal
OMIM:150250	FLNB	2317	HP:0000668	Hypodontia
OMIM:150250	FLNB	2317	HP:0002827	Hip dislocation
OMIM:150250	FLNB	2317	HP:0001631	Atrial septal defect
OMIM:150250	FLNB	2317	HP:0001222	Spatulate thumbs
OMIM:150250	FLNB	2317	HP:0004976	Knee dislocation
OMIM:150250	FLNB	2317	HP:0004322	Short stature
OMIM:150250	FLNB	2317	HP:0002780	Bronchomalacia
OMIM:150250	FLNB	2317	HP:0002007	Frontal bossing
OMIM:150250	FLNB	2317	HP:0000204	Cleft upper lip
OMIM:150250	FLNB	2317	HP:0004232	Accessory carpal bones
OMIM:150250	FLNB	2317	HP:0007957	Corneal opacity
OMIM:150250	FLNB	2317	HP:0003304	Spondylolysis
OMIM:150250	FLNB	2317	HP:0002176	Spinal cord compression
OMIM:150250	FLNB	2317	HP:0001772	Talipes equinovalgus
OMIM:150250	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:150250	FLNB	2317	HP:0002779	Tracheomalacia
OMIM:150250	FLNB	2317	HP:0000175	Cleft palate
OMIM:150250	FLNB	2317	HP:0000586	Shallow orbits
OMIM:150250	FLNB	2317	HP:0003994	Dislocated wrist
OMIM:150250	FLNB	2317	HP:0012368	Flat face
OMIM:184840	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:184840	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:184840	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:184840	COL11A2	1302	HP:0002829	Arthralgia
OMIM:184840	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:184840	COL11A2	1302	HP:0000478	Abnormality of the eye
OMIM:184840	COL11A2	1302	HP:0010580	Enlarged epiphyses
OMIM:184840	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:184840	COL11A2	1302	HP:0002656	Epiphyseal dysplasia
OMIM:184840	COL11A2	1302	HP:0000272	Malar flattening
OMIM:184840	COL11A2	1302	HP:0000175	Cleft palate
OMIM:184840	COL11A2	1302	HP:0003088	Premature osteoarthritis
OMIM:184840	COL11A2	1302	HP:0011800	Midface retrusion
OMIM:615802	PGAP1	80055	HP:0001263	Global developmental delay
OMIM:615802	PGAP1	80055	HP:0000556	Retinal dystrophy
OMIM:615802	PGAP1	80055	HP:0001319	Neonatal hypotonia
OMIM:615802	PGAP1	80055	HP:0001249	Intellectual disability
OMIM:615802	PGAP1	80055	HP:0000252	Microcephaly
OMIM:615802	PGAP1	80055	HP:0000512	Abnormal electroretinogram
OMIM:615802	PGAP1	80055	HP:0000154	Wide mouth
OMIM:615802	PGAP1	80055	HP:0000164	Abnormality of the dentition
OMIM:615802	PGAP1	80055	HP:0000400	Macrotia
OMIM:615802	PGAP1	80055	HP:0002059	Cerebral atrophy
OMIM:615802	PGAP1	80055	HP:0000007	Autosomal recessive inheritance
OMIM:615802	PGAP1	80055	HP:0004322	Short stature
OMIM:615802	PGAP1	80055	HP:0000470	Short neck
OMIM:616468	ZNF408	79797	HP:0001489	Posterior vitreous detachment
OMIM:616468	ZNF408	79797	HP:0000529	Progressive visual loss
OMIM:616468	ZNF408	79797	HP:0000545	Myopia
OMIM:616468	ZNF408	79797	HP:0030490	Exudative vitreoretinopathy
OMIM:616468	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:309580	ATRX	546	HP:0000252	Microcephaly
OMIM:309580	ATRX	546	HP:0000268	Dolichocephaly
OMIM:309580	ATRX	546	HP:0000154	Wide mouth
OMIM:309580	ATRX	546	HP:0000286	Epicanthus
OMIM:309580	ATRX	546	HP:0001347	Hyperreflexia
OMIM:309580	ATRX	546	HP:0008947	Infantile muscular hypotonia
OMIM:309580	ATRX	546	HP:0000158	Macroglossia
OMIM:309580	ATRX	546	HP:0009466	Radial deviation of finger
OMIM:309580	ATRX	546	HP:0001238	Slender finger
OMIM:309580	ATRX	546	HP:0000188	Short upper lip
OMIM:309580	ATRX	546	HP:0000219	Thin upper lip vermilion
OMIM:309580	ATRX	546	HP:0002750	Delayed skeletal maturation
OMIM:309580	ATRX	546	HP:0001884	Talipes calcaneovalgus
OMIM:309580	ATRX	546	HP:0011800	Midface retrusion
OMIM:309580	ATRX	546	HP:0000341	Narrow forehead
OMIM:309580	ATRX	546	HP:0000431	Wide nasal bridge
OMIM:309580	ATRX	546	HP:0000076	Vesicoureteral reflux
OMIM:309580	ATRX	546	HP:0010864	Intellectual disability, severe
OMIM:309580	ATRX	546	HP:0002751	Kyphoscoliosis
OMIM:309580	ATRX	546	HP:0001762	Talipes equinovarus
OMIM:309580	ATRX	546	HP:0000135	Hypogonadism
OMIM:309580	ATRX	546	HP:0000451	Triangular nasal tip
OMIM:309580	ATRX	546	HP:0000358	Posteriorly rotated ears
OMIM:309580	ATRX	546	HP:0006887	Intellectual disability, progressive
OMIM:309580	ATRX	546	HP:0002013	Vomiting
OMIM:309580	ATRX	546	HP:0000648	Optic atrophy
OMIM:309580	ATRX	546	HP:0001566	Widely-spaced maxillary central incisors
OMIM:309580	ATRX	546	HP:0000470	Short neck
OMIM:309580	ATRX	546	HP:0000347	Micrognathia
OMIM:309580	ATRX	546	HP:0000028	Cryptorchidism
OMIM:309580	ATRX	546	HP:0000194	Open mouth
OMIM:309580	ATRX	546	HP:0000749	Paroxysmal bursts of laughter
OMIM:309580	ATRX	546	HP:0005280	Depressed nasal bridge
OMIM:309580	ATRX	546	HP:0001156	Brachydactyly
OMIM:309580	ATRX	546	HP:0002020	Gastroesophageal reflux
OMIM:309580	ATRX	546	HP:0000089	Renal hypoplasia
OMIM:309580	ATRX	546	HP:0000280	Coarse facial features
OMIM:309580	ATRX	546	HP:0000272	Malar flattening
OMIM:309580	ATRX	546	HP:0001763	Pes planus
OMIM:309580	ATRX	546	HP:0003812	Phenotypic variability
OMIM:309580	ATRX	546	HP:0001182	Tapered finger
OMIM:309580	ATRX	546	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:309580	ATRX	546	HP:0002019	Constipation
OMIM:309580	ATRX	546	HP:0010804	Tented upper lip vermilion
OMIM:309580	ATRX	546	HP:0006895	Lower limb hypertonia
OMIM:309580	ATRX	546	HP:0008551	Microtia
OMIM:309580	ATRX	546	HP:0000582	Upslanted palpebral fissure
OMIM:309580	ATRX	546	HP:0004322	Short stature
OMIM:309580	ATRX	546	HP:0001419	X-linked recessive inheritance
OMIM:309580	ATRX	546	HP:0000577	Exotropia
OMIM:309580	ATRX	546	HP:0010808	Protruding tongue
OMIM:309580	ATRX	546	HP:0000179	Thick lower lip vermilion
OMIM:309580	ATRX	546	HP:0000463	Anteverted nares
OMIM:309580	ATRX	546	HP:0000218	High palate
OMIM:309580	ATRX	546	HP:0002857	Genu valgum
OMIM:309580	ATRX	546	HP:0000508	Ptosis
OMIM:309580	ATRX	546	HP:0000407	Sensorineural hearing impairment
OMIM:309580	ATRX	546	HP:0002307	Drooling
OMIM:309580	ATRX	546	HP:0000047	Hypospadias
OMIM:309580	ATRX	546	HP:0000752	Hyperactivity
OMIM:309580	ATRX	546	HP:0000046	Scrotal hypoplasia
OMIM:309580	ATRX	546	HP:0000316	Hypertelorism
OMIM:309580	ATRX	546	HP:0000369	Low-set ears
OMIM:309580	ATRX	546	HP:0000054	Micropenis
OMIM:309580	ATRX	546	HP:0010806	U-Shaped upper lip vermilion
OMIM:309580	ATRX	546	HP:0005326	Hypoplastic philtrum
OMIM:309580	ATRX	546	HP:0008734	Decreased testicular size
OMIM:615966	PRKDC	5591	HP:0000007	Autosomal recessive inheritance
OMIM:615966	PRKDC	5591	HP:0002783	Recurrent lower respiratory tract infections
OMIM:615966	PRKDC	5591	HP:0004430	Severe combined immunodeficiency
OMIM:615966	PRKDC	5591	HP:0011107	Recurrent aphthous stomatitis
OMIM:615966	PRKDC	5591	HP:0000252	Microcephaly
OMIM:615966	PRKDC	5591	HP:0003593	Infantile onset
OMIM:604715	SLC6A2	6530	HP:0000006	Autosomal dominant inheritance
OMIM:604715	SLC6A2	6530	HP:0012173	Orthostatic tachycardia
OMIM:300071	CACNA1F	778	HP:0001425	Heterogeneous
OMIM:300071	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:300071	CACNA1F	778	HP:0001417	X-linked inheritance
OMIM:300071	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:300071	CACNA1F	778	HP:0000505	Visual impairment
OMIM:232200	G6PC	2538	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232200	G6PC	2538	HP:0001943	Hypoglycemia
OMIM:232200	G6PC	2538	HP:0003077	Hyperlipidemia
OMIM:232200	G6PC	2538	HP:0002240	Hepatomegaly
OMIM:232200	G6PC	2538	HP:0001538	Protuberant abdomen
OMIM:232200	G6PC	2538	HP:0001402	Hepatocellular carcinoma
OMIM:232200	G6PC	2538	HP:0000295	Doll-like facies
OMIM:232200	G6PC	2538	HP:0000939	Osteoporosis
OMIM:232200	G6PC	2538	HP:0003128	Lactic acidosis
OMIM:232200	G6PC	2538	HP:0000822	Hypertension
OMIM:232200	G6PC	2538	HP:0000105	Enlarged kidney
OMIM:232200	G6PC	2538	HP:0000787	Nephrolithiasis
OMIM:232200	G6PC	2538	HP:0001892	Abnormal bleeding
OMIM:232200	G6PC	2538	HP:0000823	Delayed puberty
OMIM:232200	G6PC	2538	HP:0004322	Short stature
OMIM:232200	G6PC	2538	HP:0012213	Decreased glomerular filtration rate
OMIM:232200	G6PC	2538	HP:0001997	Gout
OMIM:232200	G6PC	2538	HP:0002910	Elevated hepatic transaminases
OMIM:232200	G6PC	2538	HP:0001114	Xanthelasma
OMIM:232200	G6PC	2538	HP:0000007	Autosomal recessive inheritance
OMIM:232200	G6PC	2538	HP:0003199	Decreased muscle mass
OMIM:232200	G6PC	2538	HP:0001733	Pancreatitis
OMIM:232200	G6PC	2538	HP:0000660	Lipemia retinalis
OMIM:232200	G6PC	2538	HP:0000093	Proteinuria
OMIM:232200	G6PC	2538	HP:0002254	Intermittent diarrhea
OMIM:213200	PMPCA	23203	HP:0001263	Global developmental delay
OMIM:213200	PMPCA	23203	HP:0001290	Generalized hypotonia
OMIM:213200	PMPCA	23203	HP:0001321	Cerebellar hypoplasia
OMIM:213200	PMPCA	23203	HP:0000750	Delayed speech and language development
OMIM:213200	PMPCA	23203	HP:0001152	Saccadic smooth pursuit
OMIM:213200	PMPCA	23203	HP:0001310	Dysmetria
OMIM:213200	PMPCA	23203	HP:0003593	Infantile onset
OMIM:213200	PMPCA	23203	HP:0001337	Tremor
OMIM:213200	PMPCA	23203	HP:0001347	Hyperreflexia
OMIM:213200	PMPCA	23203	HP:0000007	Autosomal recessive inheritance
OMIM:213200	PMPCA	23203	HP:0001249	Intellectual disability
OMIM:213200	PMPCA	23203	HP:0002070	Limb ataxia
OMIM:213200	PMPCA	23203	HP:0002066	Gait ataxia
OMIM:213200	PMPCA	23203	HP:0001260	Dysarthria
OMIM:213200	PMPCA	23203	HP:0001251	Ataxia
OMIM:213200	PMPCA	23203	HP:0001257	Spasticity
OMIM:213200	PMPCA	23203	HP:0002311	Incoordination
OMIM:213200	PMPCA	23203	HP:0002317	Unsteady gait
OMIM:213200	PMPCA	23203	HP:0003680	Nonprogressive
OMIM:615422	HNRNPA2B1	3181	HP:0100614	Myositis
OMIM:615422	HNRNPA2B1	3181	HP:0003560	Muscular dystrophy
OMIM:615422	HNRNPA2B1	3181	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615422	HNRNPA2B1	3181	HP:0000708	Behavioral abnormality
OMIM:615422	HNRNPA2B1	3181	HP:0002145	Frontotemporal dementia
OMIM:615422	HNRNPA2B1	3181	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:615422	HNRNPA2B1	3181	HP:0003198	Myopathy
OMIM:615422	HNRNPA2B1	3181	HP:0000924	Abnormality of the skeletal system
OMIM:615422	HNRNPA2B1	3181	HP:0003202	Skeletal muscle atrophy
OMIM:615422	HNRNPA2B1	3181	HP:0100295	Muscle fiber atrophy
ORPHA:2501	MMP13	4322	HP:0006385	Short lower limbs
ORPHA:2501	MMP13	4322	HP:0002650	Scoliosis
ORPHA:2501	MMP13	4322	HP:0002750	Delayed skeletal maturation
ORPHA:2501	MMP13	4322	HP:0001288	Gait disturbance
ORPHA:2501	MMP13	4322	HP:0001385	Hip dysplasia
ORPHA:2501	MMP13	4322	HP:0003498	Disproportionate short stature
ORPHA:2501	MMP13	4322	HP:0005871	Metaphyseal chondrodysplasia
ORPHA:2501	MMP13	4322	HP:0003307	Hyperlordosis
ORPHA:2501	MMP13	4322	HP:0000670	Carious teeth
ORPHA:2501	MMP13	4322	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2501	MMP13	4322	HP:0002970	Genu varum
ORPHA:2501	MMP13	4322	HP:0006409	Progressive leg bowing
ORPHA:2501	MMP13	4322	HP:0004349	Reduced bone mineral density
OMIM:617023	AGBL5	60509	HP:0000662	Nyctalopia
OMIM:617023	AGBL5	60509	HP:0007994	Peripheral visual field loss
OMIM:617023	AGBL5	60509	HP:0000545	Myopia
OMIM:617023	AGBL5	60509	HP:0000007	Autosomal recessive inheritance
ORPHA:873	APC	324	HP:0003326	Myalgia
ORPHA:873	APC	324	HP:0100245	Desmoid tumors
ORPHA:873	APC	324	HP:0200008	Intestinal polyposis
ORPHA:873	APC	324	HP:0002027	Abdominal pain
ORPHA:873	APC	324	HP:0004298	Abnormality of the abdominal wall
ORPHA:873	APC	324	HP:0001482	Subcutaneous nodule
ORPHA:873	APC	324	HP:0003011	Abnormality of the musculature
ORPHA:873	APC	324	HP:0007703	Abnormality of retinal pigmentation
ORPHA:873	APC	324	HP:0002024	Malabsorption
ORPHA:873	CTNNB1	1499	HP:0003326	Myalgia
ORPHA:873	CTNNB1	1499	HP:0100245	Desmoid tumors
ORPHA:873	CTNNB1	1499	HP:0200008	Intestinal polyposis
ORPHA:873	CTNNB1	1499	HP:0002027	Abdominal pain
ORPHA:873	CTNNB1	1499	HP:0004298	Abnormality of the abdominal wall
ORPHA:873	CTNNB1	1499	HP:0001482	Subcutaneous nodule
ORPHA:873	CTNNB1	1499	HP:0003011	Abnormality of the musculature
ORPHA:873	CTNNB1	1499	HP:0007703	Abnormality of retinal pigmentation
ORPHA:873	CTNNB1	1499	HP:0002024	Malabsorption
OMIM:160500	MYH7	4625	HP:0003326	Myalgia
OMIM:160500	MYH7	4625	HP:0003593	Infantile onset
OMIM:160500	MYH7	4625	HP:0011916	Toe extensor amyotrophy
OMIM:160500	MYH7	4625	HP:0003200	Ragged-red muscle fibers
OMIM:160500	MYH7	4625	HP:0000467	Neck muscle weakness
OMIM:160500	MYH7	4625	HP:0003803	Type 1 muscle fiber predominance
OMIM:160500	MYH7	4625	HP:0011463	Childhood onset
OMIM:160500	MYH7	4625	HP:0003677	Slow progression
OMIM:160500	MYH7	4625	HP:0003445	EMG: neuropathic changes
OMIM:160500	MYH7	4625	HP:0003812	Phenotypic variability
OMIM:160500	MYH7	4625	HP:0002460	Distal muscle weakness
OMIM:160500	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:160500	MYH7	4625	HP:0002650	Scoliosis
OMIM:160500	MYH7	4625	HP:0001288	Gait disturbance
OMIM:160500	MYH7	4625	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:160500	MYH7	4625	HP:0010628	Facial palsy
OMIM:160500	MYH7	4625	HP:0001761	Pes cavus
OMIM:160500	MYH7	4625	HP:0009031	Amyotrophy of ankle musculature
OMIM:160500	MYH7	4625	HP:0009077	Weakness of long finger extensor muscles
OMIM:160500	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160500	MYH7	4625	HP:0000218	High palate
OMIM:304110	EFNB1	1947	HP:0004322	Short stature
OMIM:304110	EFNB1	1947	HP:0000431	Wide nasal bridge
OMIM:304110	EFNB1	1947	HP:0000506	Telecanthus
OMIM:304110	EFNB1	1947	HP:0002162	Low posterior hairline
OMIM:304110	EFNB1	1947	HP:0001770	Toe syndactyly
OMIM:304110	EFNB1	1947	HP:0000175	Cleft palate
OMIM:304110	EFNB1	1947	HP:0005278	Hypoplastic nasal tip
OMIM:304110	EFNB1	1947	HP:0000639	Nystagmus
OMIM:304110	EFNB1	1947	HP:0004209	Clinodactyly of the 5th finger
OMIM:304110	EFNB1	1947	HP:0001290	Generalized hypotonia
OMIM:304110	EFNB1	1947	HP:0001263	Global developmental delay
OMIM:304110	EFNB1	1947	HP:0001808	Fragile nails
OMIM:304110	EFNB1	1947	HP:0002007	Frontal bossing
OMIM:304110	EFNB1	1947	HP:0001060	Axillary pterygia
OMIM:304110	EFNB1	1947	HP:0002079	Hypoplasia of the corpus callosum
OMIM:304110	EFNB1	1947	HP:0001547	Abnormality of the rib cage
OMIM:304110	EFNB1	1947	HP:0000456	Bifid nasal tip
OMIM:304110	EFNB1	1947	HP:0001423	X-linked dominant inheritance
OMIM:304110	EFNB1	1947	HP:0000028	Cryptorchidism
OMIM:304110	EFNB1	1947	HP:0200053	Hemihypotrophy of lower limb
OMIM:304110	EFNB1	1947	HP:0200021	Down-sloping shoulders
OMIM:304110	EFNB1	1947	HP:0000324	Facial asymmetry
OMIM:304110	EFNB1	1947	HP:0000470	Short neck
OMIM:304110	EFNB1	1947	HP:0000494	Downslanted palpebral fissures
OMIM:304110	EFNB1	1947	HP:0006585	Congenital pseudoarthrosis of the clavicle
OMIM:304110	EFNB1	1947	HP:0000316	Hypertelorism
OMIM:304110	EFNB1	1947	HP:0000776	Congenital diaphragmatic hernia
OMIM:304110	EFNB1	1947	HP:0001807	Ridged nail
OMIM:304110	EFNB1	1947	HP:0001809	Split nail
OMIM:304110	EFNB1	1947	HP:0000912	Sprengel anomaly
OMIM:304110	EFNB1	1947	HP:0001156	Brachydactyly
OMIM:304110	EFNB1	1947	HP:0001388	Joint laxity
OMIM:304110	EFNB1	1947	HP:0004440	Coronal craniosynostosis
OMIM:304110	EFNB1	1947	HP:0000577	Exotropia
OMIM:304110	EFNB1	1947	HP:0000164	Abnormality of the dentition
OMIM:304110	EFNB1	1947	HP:0010055	Broad hallux
OMIM:304110	EFNB1	1947	HP:0000049	Shawl scrotum
OMIM:304110	EFNB1	1947	HP:0000204	Cleft upper lip
OMIM:304110	EFNB1	1947	HP:0000767	Pectus excavatum
OMIM:304110	EFNB1	1947	HP:0012813	Unilateral breast hypoplasia
OMIM:304110	EFNB1	1947	HP:0000349	Widow's peak
OMIM:304110	EFNB1	1947	HP:0001537	Umbilical hernia
OMIM:304110	EFNB1	1947	HP:0000047	Hypospadias
OMIM:304110	EFNB1	1947	HP:0000248	Brachycephaly
OMIM:601287	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:601287	SGCD	6444	HP:0001714	Ventricular hypertrophy
OMIM:601287	SGCD	6444	HP:0003560	Muscular dystrophy
OMIM:601287	SGCD	6444	HP:0007126	Proximal amyotrophy
OMIM:601287	SGCD	6444	HP:0003391	Gowers sign
OMIM:601287	SGCD	6444	HP:0008981	Calf muscle hypertrophy
OMIM:601287	SGCD	6444	HP:0002355	Difficulty walking
OMIM:601287	SGCD	6444	HP:0003236	Elevated serum creatine phosphokinase
OMIM:601287	SGCD	6444	HP:0003701	Proximal muscle weakness
OMIM:601287	SGCD	6444	HP:0003691	Scapular winging
OMIM:271900	ASPA	443	HP:0002376	Developmental regression
OMIM:271900	ASPA	443	HP:0012444	Brain atrophy
OMIM:271900	ASPA	443	HP:0007305	CNS demyelination
OMIM:271900	ASPA	443	HP:0000618	Blindness
OMIM:271900	ASPA	443	HP:0000007	Autosomal recessive inheritance
OMIM:271900	ASPA	443	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
OMIM:271900	ASPA	443	HP:0002197	Generalized seizures
OMIM:271900	ASPA	443	HP:0001252	Muscular hypotonia
OMIM:271900	ASPA	443	HP:0000256	Macrocephaly
OMIM:271900	ASPA	443	HP:0000648	Optic atrophy
OMIM:271900	ASPA	443	HP:0000639	Nystagmus
OMIM:271900	ASPA	443	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:271900	ASPA	443	HP:0002179	Opisthotonus
OMIM:271900	ASPA	443	HP:0000365	Hearing impairment
OMIM:612281	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:612281	NIPAL4	348938	HP:0001036	Parakeratosis
OMIM:612281	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:612281	NIPAL4	348938	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:612281	NIPAL4	348938	HP:0025092	Epidermal acanthosis
OMIM:188470	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:188470	PTEN	5728	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	PTEN	5728	HP:0006731	Follicular thyroid carcinoma
OMIM:188470	PTEN	5728	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188470	MINPP1	9562	HP:0000006	Autosomal dominant inheritance
OMIM:188470	MINPP1	9562	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	MINPP1	9562	HP:0006731	Follicular thyroid carcinoma
OMIM:188470	MINPP1	9562	HP:0040198	Non-medullary thyroid carcinoma
OMIM:188470	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:188470	NRAS	4893	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	NRAS	4893	HP:0006731	Follicular thyroid carcinoma
OMIM:188470	NRAS	4893	HP:0040198	Non-medullary thyroid carcinoma
ORPHA:2637	PCNT	5116	HP:0007565	Multiple cafe-au-lait spots
ORPHA:2637	PCNT	5116	HP:0001611	Nasal speech
ORPHA:2637	PCNT	5116	HP:0000691	Microdontia
ORPHA:2637	PCNT	5116	HP:0002866	Hypoplastic iliac wing
ORPHA:2637	PCNT	5116	HP:0002750	Delayed skeletal maturation
ORPHA:2637	PCNT	5116	HP:0001053	Hypopigmented skin patches
ORPHA:2637	PCNT	5116	HP:0000430	Underdeveloped nasal alae
ORPHA:2637	PCNT	5116	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:2637	PCNT	5116	HP:0000407	Sensorineural hearing impairment
ORPHA:2637	PCNT	5116	HP:0001156	Brachydactyly
ORPHA:2637	PCNT	5116	HP:0000369	Low-set ears
ORPHA:2637	PCNT	5116	HP:0001620	High pitched voice
ORPHA:2637	PCNT	5116	HP:0002812	Coxa vara
ORPHA:2637	PCNT	5116	HP:0000278	Retrognathia
ORPHA:2637	PCNT	5116	HP:0002983	Micromelia
ORPHA:2637	PCNT	5116	HP:0003498	Disproportionate short stature
ORPHA:2637	PCNT	5116	HP:0002650	Scoliosis
ORPHA:2637	PCNT	5116	HP:0001956	Truncal obesity
ORPHA:2637	PCNT	5116	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:2637	PCNT	5116	HP:0000055	Abnormality of female external genitalia
ORPHA:2637	PCNT	5116	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2637	PCNT	5116	HP:0000293	Full cheeks
ORPHA:2637	PCNT	5116	HP:0009804	Reduced number of teeth
ORPHA:2637	PCNT	5116	HP:0000431	Wide nasal bridge
ORPHA:2637	PCNT	5116	HP:0005692	Joint hyperflexibility
ORPHA:2637	PCNT	5116	HP:0000448	Prominent nose
ORPHA:2637	PCNT	5116	HP:0000958	Dry skin
ORPHA:2637	PCNT	5116	HP:0002213	Fine hair
ORPHA:2637	PCNT	5116	HP:0003275	Narrow pelvis bone
ORPHA:2637	PCNT	5116	HP:0000944	Abnormality of the metaphysis
ORPHA:2637	PCNT	5116	HP:0001511	Intrauterine growth retardation
ORPHA:2637	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2637	PCNT	5116	HP:0000252	Microcephaly
OMIM:612567	IL10RB	3588	HP:0000007	Autosomal recessive inheritance
OMIM:612567	IL10RB	3588	HP:0000143	Rectovaginal fistula
OMIM:612567	IL10RB	3588	HP:0005224	Rectal abscess
OMIM:612567	IL10RB	3588	HP:0004387	Enterocolitis
OMIM:612567	IL10RB	3588	HP:0009789	Perianal abscess
OMIM:615637	KPTN	11133	HP:0000007	Autosomal recessive inheritance
OMIM:615637	KPTN	11133	HP:0000303	Mandibular prognathia
OMIM:615637	KPTN	11133	HP:0000494	Downslanted palpebral fissures
OMIM:615637	KPTN	11133	HP:0001249	Intellectual disability
OMIM:615637	KPTN	11133	HP:0003577	Congenital onset
OMIM:615637	KPTN	11133	HP:0000739	Anxiety
OMIM:615637	KPTN	11133	HP:0004209	Clinodactyly of the 5th finger
OMIM:615637	KPTN	11133	HP:0000256	Macrocephaly
OMIM:615637	KPTN	11133	HP:0000455	Broad nasal tip
OMIM:615637	KPTN	11133	HP:0030799	Scaphocephaly
OMIM:615637	KPTN	11133	HP:0000733	Stereotypy
OMIM:615637	KPTN	11133	HP:0001290	Generalized hypotonia
OMIM:615637	KPTN	11133	HP:0001263	Global developmental delay
OMIM:615637	KPTN	11133	HP:0002007	Frontal bossing
OMIM:614099	IFT43	112752	HP:0008070	Sparse hair
OMIM:614099	IFT43	112752	HP:0004322	Short stature
OMIM:614099	IFT43	112752	HP:0000958	Dry skin
OMIM:614099	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:614099	IFT43	112752	HP:0001156	Brachydactyly
OMIM:614099	IFT43	112752	HP:0001799	Short nail
OMIM:614099	IFT43	112752	HP:0000973	Cutis laxa
OMIM:614099	IFT43	112752	HP:0000090	Nephronophthisis
OMIM:614099	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:614099	IFT43	112752	HP:0000687	Widely spaced teeth
OMIM:614099	IFT43	112752	HP:0001821	Broad nail
OMIM:614099	IFT43	112752	HP:0001159	Syndactyly
OMIM:614099	IFT43	112752	HP:0000685	Hypoplasia of teeth
OMIM:614099	IFT43	112752	HP:0001388	Joint laxity
OMIM:614099	IFT43	112752	HP:0002213	Fine hair
OMIM:614099	IFT43	112752	HP:0000774	Narrow chest
OMIM:237500	ABCC2	1244	HP:0000007	Autosomal recessive inheritance
OMIM:237500	ABCC2	1244	HP:0001080	Biliary tract abnormality
OMIM:237500	ABCC2	1244	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237500	ABCC2	1244	HP:0000952	Jaundice
OMIM:610181	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:610181	RNASEH2B	79621	HP:0003828	Variable expressivity
OMIM:610181	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:610181	RNASEH2B	79621	HP:0002059	Cerebral atrophy
OMIM:610181	RNASEH2B	79621	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	RNASEH2B	79621	HP:0001298	Encephalopathy
ORPHA:1243	BEST1	7439	HP:0012508	Metamorphopsia
ORPHA:1243	BEST1	7439	HP:0008028	Cystoid macular degeneration
ORPHA:1243	BEST1	7439	HP:0000505	Visual impairment
ORPHA:1243	BEST1	7439	HP:0000551	Abnormality of color vision
ORPHA:52416	CCND1	595	HP:0005561	Abnormality of bone marrow cell morphology
ORPHA:52416	CCND1	595	HP:0002039	Anorexia
ORPHA:52416	CCND1	595	HP:0001744	Splenomegaly
ORPHA:52416	CCND1	595	HP:0001824	Weight loss
ORPHA:52416	CCND1	595	HP:0001945	Fever
ORPHA:52416	CCND1	595	HP:0012378	Fatigue
ORPHA:52416	CCND1	595	HP:0002716	Lymphadenopathy
ORPHA:52416	CCND1	595	HP:0012191	B-cell lymphoma
ORPHA:52416	IGH	3492	HP:0005561	Abnormality of bone marrow cell morphology
ORPHA:52416	IGH	3492	HP:0002039	Anorexia
ORPHA:52416	IGH	3492	HP:0001744	Splenomegaly
ORPHA:52416	IGH	3492	HP:0001824	Weight loss
ORPHA:52416	IGH	3492	HP:0001945	Fever
ORPHA:52416	IGH	3492	HP:0012378	Fatigue
ORPHA:52416	IGH	3492	HP:0002716	Lymphadenopathy
ORPHA:52416	IGH	3492	HP:0012191	B-cell lymphoma
ORPHA:52416	ATM	472	HP:0005561	Abnormality of bone marrow cell morphology
ORPHA:52416	ATM	472	HP:0002039	Anorexia
ORPHA:52416	ATM	472	HP:0001744	Splenomegaly
ORPHA:52416	ATM	472	HP:0001824	Weight loss
ORPHA:52416	ATM	472	HP:0001945	Fever
ORPHA:52416	ATM	472	HP:0012378	Fatigue
ORPHA:52416	ATM	472	HP:0002716	Lymphadenopathy
ORPHA:52416	ATM	472	HP:0012191	B-cell lymphoma
OMIM:243000	SCN9A	6335	HP:0000020	Urinary incontinence
OMIM:243000	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:243000	SCN9A	6335	HP:0000970	Anhidrosis
OMIM:243000	SCN9A	6335	HP:0003828	Variable expressivity
OMIM:243000	SCN9A	6335	HP:0000966	Hypohidrosis
OMIM:243000	SCN9A	6335	HP:0004409	Hyposmia
OMIM:243000	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:243000	SCN9A	6335	HP:0000458	Anosmia
OMIM:243000	SCN9A	6335	HP:0002459	Dysautonomia
OMIM:243000	SCN9A	6335	HP:0002661	Painless fractures due to injury
OMIM:243000	SCN9A	6335	HP:0003593	Infantile onset
OMIM:243000	SCN9A	6335	HP:0007021	Pain insensitivity
OMIM:192430	TBX1	6899	HP:0000718	Aggressive behavior
OMIM:192430	TBX1	6899	HP:0000430	Underdeveloped nasal alae
OMIM:192430	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:192430	TBX1	6899	HP:0001252	Muscular hypotonia
OMIM:192430	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:192430	TBX1	6899	HP:0000414	Bulbous nose
OMIM:192430	TBX1	6899	HP:0000598	Abnormality of the ear
OMIM:192430	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:192430	TBX1	6899	HP:0001611	Nasal speech
OMIM:192430	TBX1	6899	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	TBX1	6899	HP:0002719	Recurrent infections
OMIM:192430	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:192430	TBX1	6899	HP:0000720	Mood swings
OMIM:192430	TBX1	6899	HP:0001328	Specific learning disability
OMIM:192430	TBX1	6899	HP:0012841	Retinal vascular tortuosity
OMIM:192430	TBX1	6899	HP:0000818	Abnormality of the endocrine system
OMIM:192430	TBX1	6899	HP:0000252	Microcephaly
OMIM:192430	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:192430	TBX1	6899	HP:0000278	Retrognathia
OMIM:192430	TBX1	6899	HP:0001155	Abnormality of the hand
OMIM:192430	TBX1	6899	HP:0001249	Intellectual disability
OMIM:192430	TBX1	6899	HP:0000175	Cleft palate
OMIM:192430	TBX1	6899	HP:0000194	Open mouth
OMIM:192430	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:192430	TBX1	6899	HP:0000201	Pierre-Robin sequence
OMIM:192430	TBX1	6899	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	TBX1	6899	HP:0011999	Paranoia
OMIM:192430	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:192430	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:192430	TBX1	6899	HP:0004322	Short stature
OMIM:192430	DGCR6	8214	HP:0000718	Aggressive behavior
OMIM:192430	DGCR6	8214	HP:0000430	Underdeveloped nasal alae
OMIM:192430	DGCR6	8214	HP:0000006	Autosomal dominant inheritance
OMIM:192430	DGCR6	8214	HP:0001252	Muscular hypotonia
OMIM:192430	DGCR6	8214	HP:0000627	Posterior embryotoxon
OMIM:192430	DGCR6	8214	HP:0000414	Bulbous nose
OMIM:192430	DGCR6	8214	HP:0000598	Abnormality of the ear
OMIM:192430	DGCR6	8214	HP:0000581	Blepharophimosis
OMIM:192430	DGCR6	8214	HP:0001611	Nasal speech
OMIM:192430	DGCR6	8214	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	DGCR6	8214	HP:0002719	Recurrent infections
OMIM:192430	DGCR6	8214	HP:0002901	Hypocalcemia
OMIM:192430	DGCR6	8214	HP:0000720	Mood swings
OMIM:192430	DGCR6	8214	HP:0001328	Specific learning disability
OMIM:192430	DGCR6	8214	HP:0012841	Retinal vascular tortuosity
OMIM:192430	DGCR6	8214	HP:0000818	Abnormality of the endocrine system
OMIM:192430	DGCR6	8214	HP:0000252	Microcephaly
OMIM:192430	DGCR6	8214	HP:0000023	Inguinal hernia
OMIM:192430	DGCR6	8214	HP:0000278	Retrognathia
OMIM:192430	DGCR6	8214	HP:0001155	Abnormality of the hand
OMIM:192430	DGCR6	8214	HP:0001249	Intellectual disability
OMIM:192430	DGCR6	8214	HP:0000175	Cleft palate
OMIM:192430	DGCR6	8214	HP:0000194	Open mouth
OMIM:192430	DGCR6	8214	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	DGCR6	8214	HP:0001537	Umbilical hernia
OMIM:192430	DGCR6	8214	HP:0000201	Pierre-Robin sequence
OMIM:192430	DGCR6	8214	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	DGCR6	8214	HP:0011999	Paranoia
OMIM:192430	DGCR6	8214	HP:0001629	Ventricular septal defect
OMIM:192430	DGCR6	8214	HP:0001636	Tetralogy of Fallot
OMIM:192430	DGCR6	8214	HP:0004322	Short stature
OMIM:192430	DGCR8	54487	HP:0000718	Aggressive behavior
OMIM:192430	DGCR8	54487	HP:0000430	Underdeveloped nasal alae
OMIM:192430	DGCR8	54487	HP:0000006	Autosomal dominant inheritance
OMIM:192430	DGCR8	54487	HP:0001252	Muscular hypotonia
OMIM:192430	DGCR8	54487	HP:0000627	Posterior embryotoxon
OMIM:192430	DGCR8	54487	HP:0000414	Bulbous nose
OMIM:192430	DGCR8	54487	HP:0000598	Abnormality of the ear
OMIM:192430	DGCR8	54487	HP:0000581	Blepharophimosis
OMIM:192430	DGCR8	54487	HP:0001611	Nasal speech
OMIM:192430	DGCR8	54487	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	DGCR8	54487	HP:0002719	Recurrent infections
OMIM:192430	DGCR8	54487	HP:0002901	Hypocalcemia
OMIM:192430	DGCR8	54487	HP:0000720	Mood swings
OMIM:192430	DGCR8	54487	HP:0001328	Specific learning disability
OMIM:192430	DGCR8	54487	HP:0012841	Retinal vascular tortuosity
OMIM:192430	DGCR8	54487	HP:0000818	Abnormality of the endocrine system
OMIM:192430	DGCR8	54487	HP:0000252	Microcephaly
OMIM:192430	DGCR8	54487	HP:0000023	Inguinal hernia
OMIM:192430	DGCR8	54487	HP:0000278	Retrognathia
OMIM:192430	DGCR8	54487	HP:0001155	Abnormality of the hand
OMIM:192430	DGCR8	54487	HP:0001249	Intellectual disability
OMIM:192430	DGCR8	54487	HP:0000175	Cleft palate
OMIM:192430	DGCR8	54487	HP:0000194	Open mouth
OMIM:192430	DGCR8	54487	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	DGCR8	54487	HP:0001537	Umbilical hernia
OMIM:192430	DGCR8	54487	HP:0000201	Pierre-Robin sequence
OMIM:192430	DGCR8	54487	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	DGCR8	54487	HP:0011999	Paranoia
OMIM:192430	DGCR8	54487	HP:0001629	Ventricular septal defect
OMIM:192430	DGCR8	54487	HP:0001636	Tetralogy of Fallot
OMIM:192430	DGCR8	54487	HP:0004322	Short stature
OMIM:192430	DGCR2	9993	HP:0000718	Aggressive behavior
OMIM:192430	DGCR2	9993	HP:0000430	Underdeveloped nasal alae
OMIM:192430	DGCR2	9993	HP:0000006	Autosomal dominant inheritance
OMIM:192430	DGCR2	9993	HP:0001252	Muscular hypotonia
OMIM:192430	DGCR2	9993	HP:0000627	Posterior embryotoxon
OMIM:192430	DGCR2	9993	HP:0000414	Bulbous nose
OMIM:192430	DGCR2	9993	HP:0000598	Abnormality of the ear
OMIM:192430	DGCR2	9993	HP:0000581	Blepharophimosis
OMIM:192430	DGCR2	9993	HP:0001611	Nasal speech
OMIM:192430	DGCR2	9993	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	DGCR2	9993	HP:0002719	Recurrent infections
OMIM:192430	DGCR2	9993	HP:0002901	Hypocalcemia
OMIM:192430	DGCR2	9993	HP:0000720	Mood swings
OMIM:192430	DGCR2	9993	HP:0001328	Specific learning disability
OMIM:192430	DGCR2	9993	HP:0012841	Retinal vascular tortuosity
OMIM:192430	DGCR2	9993	HP:0000818	Abnormality of the endocrine system
OMIM:192430	DGCR2	9993	HP:0000252	Microcephaly
OMIM:192430	DGCR2	9993	HP:0000023	Inguinal hernia
OMIM:192430	DGCR2	9993	HP:0000278	Retrognathia
OMIM:192430	DGCR2	9993	HP:0001155	Abnormality of the hand
OMIM:192430	DGCR2	9993	HP:0001249	Intellectual disability
OMIM:192430	DGCR2	9993	HP:0000175	Cleft palate
OMIM:192430	DGCR2	9993	HP:0000194	Open mouth
OMIM:192430	DGCR2	9993	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	DGCR2	9993	HP:0001537	Umbilical hernia
OMIM:192430	DGCR2	9993	HP:0000201	Pierre-Robin sequence
OMIM:192430	DGCR2	9993	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	DGCR2	9993	HP:0011999	Paranoia
OMIM:192430	DGCR2	9993	HP:0001629	Ventricular septal defect
OMIM:192430	DGCR2	9993	HP:0001636	Tetralogy of Fallot
OMIM:192430	DGCR2	9993	HP:0004322	Short stature
OMIM:192430	ESS2	8220	HP:0000718	Aggressive behavior
OMIM:192430	ESS2	8220	HP:0000430	Underdeveloped nasal alae
OMIM:192430	ESS2	8220	HP:0000006	Autosomal dominant inheritance
OMIM:192430	ESS2	8220	HP:0001252	Muscular hypotonia
OMIM:192430	ESS2	8220	HP:0000627	Posterior embryotoxon
OMIM:192430	ESS2	8220	HP:0000414	Bulbous nose
OMIM:192430	ESS2	8220	HP:0000598	Abnormality of the ear
OMIM:192430	ESS2	8220	HP:0000581	Blepharophimosis
OMIM:192430	ESS2	8220	HP:0001611	Nasal speech
OMIM:192430	ESS2	8220	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	ESS2	8220	HP:0002719	Recurrent infections
OMIM:192430	ESS2	8220	HP:0002901	Hypocalcemia
OMIM:192430	ESS2	8220	HP:0000720	Mood swings
OMIM:192430	ESS2	8220	HP:0001328	Specific learning disability
OMIM:192430	ESS2	8220	HP:0012841	Retinal vascular tortuosity
OMIM:192430	ESS2	8220	HP:0000818	Abnormality of the endocrine system
OMIM:192430	ESS2	8220	HP:0000252	Microcephaly
OMIM:192430	ESS2	8220	HP:0000023	Inguinal hernia
OMIM:192430	ESS2	8220	HP:0000278	Retrognathia
OMIM:192430	ESS2	8220	HP:0001155	Abnormality of the hand
OMIM:192430	ESS2	8220	HP:0001249	Intellectual disability
OMIM:192430	ESS2	8220	HP:0000175	Cleft palate
OMIM:192430	ESS2	8220	HP:0000194	Open mouth
OMIM:192430	ESS2	8220	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	ESS2	8220	HP:0001537	Umbilical hernia
OMIM:192430	ESS2	8220	HP:0000201	Pierre-Robin sequence
OMIM:192430	ESS2	8220	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	ESS2	8220	HP:0011999	Paranoia
OMIM:192430	ESS2	8220	HP:0001629	Ventricular septal defect
OMIM:192430	ESS2	8220	HP:0001636	Tetralogy of Fallot
OMIM:192430	ESS2	8220	HP:0004322	Short stature
OMIM:616409	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:616409	EEF1A2	1917	HP:0002317	Unsteady gait
OMIM:616409	EEF1A2	1917	HP:0001250	Seizures
OMIM:616409	EEF1A2	1917	HP:0002521	Hypsarrhythmia
OMIM:616409	EEF1A2	1917	HP:0000006	Autosomal dominant inheritance
OMIM:616409	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616409	EEF1A2	1917	HP:0001319	Neonatal hypotonia
OMIM:616409	EEF1A2	1917	HP:0200134	Epileptic encephalopathy
OMIM:616409	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616409	EEF1A2	1917	HP:0005484	Postnatal microcephaly
OMIM:616409	EEF1A2	1917	HP:0003593	Infantile onset
OMIM:616409	EEF1A2	1917	HP:0000252	Microcephaly
OMIM:614023	PSPH	5723	HP:0001511	Intrauterine growth retardation
OMIM:614023	PSPH	5723	HP:0001263	Global developmental delay
OMIM:614023	PSPH	5723	HP:0000007	Autosomal recessive inheritance
OMIM:614023	PSPH	5723	HP:0008897	Postnatal growth retardation
OMIM:614023	PSPH	5723	HP:0001250	Seizures
OMIM:614023	PSPH	5723	HP:0003593	Infantile onset
OMIM:614023	PSPH	5723	HP:0001249	Intellectual disability
OMIM:614023	PSPH	5723	HP:0001276	Hypertonia
OMIM:615924	BSCL2	26580	HP:0002273	Tetraparesis
OMIM:615924	BSCL2	26580	HP:0003676	Progressive
OMIM:615924	BSCL2	26580	HP:0001257	Spasticity
OMIM:615924	BSCL2	26580	HP:0000007	Autosomal recessive inheritance
OMIM:615924	BSCL2	26580	HP:0001337	Tremor
OMIM:615924	BSCL2	26580	HP:0001298	Encephalopathy
OMIM:615924	BSCL2	26580	HP:0001251	Ataxia
OMIM:615924	BSCL2	26580	HP:0001268	Mental deterioration
OMIM:615924	BSCL2	26580	HP:0001347	Hyperreflexia
OMIM:615924	BSCL2	26580	HP:0007256	Abnormal pyramidal signs
OMIM:615924	BSCL2	26580	HP:0002059	Cerebral atrophy
OMIM:615924	BSCL2	26580	HP:0002529	Neuronal loss in central nervous system
OMIM:615924	BSCL2	26580	HP:0001332	Dystonia
OMIM:615924	BSCL2	26580	HP:0001336	Myoclonus
OMIM:615924	BSCL2	26580	HP:0002376	Developmental regression
OMIM:615924	BSCL2	26580	HP:0000750	Delayed speech and language development
OMIM:615924	BSCL2	26580	HP:0001250	Seizures
OMIM:615924	BSCL2	26580	HP:0002371	Loss of speech
OMIM:615924	BSCL2	26580	HP:0000752	Hyperactivity
OMIM:300260	MECP2	4204	HP:0000297	Facial hypotonia
OMIM:300260	MECP2	4204	HP:0002019	Constipation
OMIM:300260	MECP2	4204	HP:0000817	Poor eye contact
OMIM:300260	MECP2	4204	HP:0001251	Ataxia
OMIM:300260	MECP2	4204	HP:0002015	Dysphagia
OMIM:300260	MECP2	4204	HP:0000252	Microcephaly
OMIM:300260	MECP2	4204	HP:0002063	Rigidity
OMIM:300260	MECP2	4204	HP:0000248	Brachycephaly
OMIM:300260	MECP2	4204	HP:0002307	Drooling
OMIM:300260	MECP2	4204	HP:0000164	Abnormality of the dentition
OMIM:300260	MECP2	4204	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300260	MECP2	4204	HP:0010804	Tented upper lip vermilion
OMIM:300260	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300260	MECP2	4204	HP:0000256	Macrocephaly
OMIM:300260	MECP2	4204	HP:0000028	Cryptorchidism
OMIM:300260	MECP2	4204	HP:0011344	Severe global developmental delay
OMIM:300260	MECP2	4204	HP:0003763	Bruxism
OMIM:300260	MECP2	4204	HP:0008947	Infantile muscular hypotonia
OMIM:300260	MECP2	4204	HP:0000400	Macrotia
OMIM:300260	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300260	MECP2	4204	HP:0005280	Depressed nasal bridge
OMIM:300260	MECP2	4204	HP:0000739	Anxiety
OMIM:300260	MECP2	4204	HP:0001344	Absent speech
OMIM:300260	MECP2	4204	HP:0002072	Chorea
OMIM:300260	MECP2	4204	HP:0001250	Seizures
OMIM:300260	MECP2	4204	HP:0000160	Narrow mouth
OMIM:300260	MECP2	4204	HP:0000272	Malar flattening
OMIM:300260	MECP2	4204	HP:0000369	Low-set ears
OMIM:300260	MECP2	4204	HP:0000716	Depressivity
OMIM:300260	MECP2	4204	HP:0002205	Recurrent respiratory infections
OMIM:300260	MECP2	4204	HP:0003676	Progressive
OMIM:300260	MECP2	4204	HP:0011800	Midface retrusion
OMIM:300260	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:300260	MECP2	4204	HP:0002191	Progressive spasticity
ORPHA:1071	TP63	8626	HP:0000176	Submucous cleft hard palate
ORPHA:1071	TP63	8626	HP:0007440	Generalized hyperpigmentation
ORPHA:1071	TP63	8626	HP:0000653	Sparse eyelashes
ORPHA:1071	TP63	8626	HP:0000982	Palmoplantar keratoderma
ORPHA:1071	TP63	8626	HP:0000698	Conical tooth
ORPHA:1071	TP63	8626	HP:0001810	Dystrophic toenail
ORPHA:1071	TP63	8626	HP:0002208	Coarse hair
ORPHA:1071	TP63	8626	HP:0008391	Dystrophic fingernails
ORPHA:1071	TP63	8626	HP:0001006	Hypotrichosis
ORPHA:1071	TP63	8626	HP:0011819	Submucous cleft soft palate
ORPHA:1071	TP63	8626	HP:0000535	Sparse and thin eyebrow
ORPHA:1071	TP63	8626	HP:0000687	Widely spaced teeth
ORPHA:1071	TP63	8626	HP:0000682	Abnormality of dental enamel
ORPHA:1071	TP63	8626	HP:0000347	Micrognathia
ORPHA:1071	TP63	8626	HP:0000431	Wide nasal bridge
ORPHA:1071	TP63	8626	HP:0000668	Hypodontia
ORPHA:1071	TP63	8626	HP:0100335	Non-midline cleft lip
ORPHA:1071	TP63	8626	HP:0000405	Conductive hearing impairment
ORPHA:1071	TP63	8626	HP:0001812	Hyperconvex fingernails
ORPHA:1071	TP63	8626	HP:0009755	Ankyloblepharon
ORPHA:1071	TP63	8626	HP:0000966	Hypohidrosis
ORPHA:2052	FRAS1	80144	HP:0000003	Multicystic kidney dysplasia
ORPHA:2052	FRAS1	80144	HP:0000528	Anophthalmia
ORPHA:2052	FRAS1	80144	HP:0000062	Ambiguous genitalia
ORPHA:2052	FRAS1	80144	HP:0002023	Anal atresia
ORPHA:2052	FRAS1	80144	HP:0010458	Female pseudohermaphroditism
ORPHA:2052	FRAS1	80144	HP:0007925	Lacrimal duct aplasia
ORPHA:2052	FRAS1	80144	HP:0000431	Wide nasal bridge
ORPHA:2052	FRAS1	80144	HP:0008736	Hypoplasia of penis
ORPHA:2052	FRAS1	80144	HP:0000678	Dental crowding
ORPHA:2052	FRAS1	80144	HP:0005280	Depressed nasal bridge
ORPHA:2052	FRAS1	80144	HP:0000089	Renal hypoplasia
ORPHA:2052	FRAS1	80144	HP:0008572	External ear malformation
ORPHA:2052	FRAS1	80144	HP:0000148	Vaginal atresia
ORPHA:2052	FRAS1	80144	HP:0001126	Cryptophthalmos
ORPHA:2052	FRAS1	80144	HP:0007993	Malformed lacrimal ducts
ORPHA:2052	FRAS1	80144	HP:0000316	Hypertelorism
ORPHA:2052	FRAS1	80144	HP:0000618	Blindness
ORPHA:2052	FRAS1	80144	HP:0010297	Bifid tongue
ORPHA:2052	FRAS1	80144	HP:0000568	Microphthalmia
ORPHA:2052	FRAS1	80144	HP:0000689	Dental malocclusion
ORPHA:2052	FRAS1	80144	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2052	FRAS1	80144	HP:0000046	Scrotal hypoplasia
ORPHA:2052	FRAS1	80144	HP:0002025	Anal stenosis
ORPHA:2052	FRAS1	80144	HP:0003183	Wide pubic symphysis
ORPHA:2052	FRAS1	80144	HP:0001602	Laryngeal stenosis
ORPHA:2052	FRAS1	80144	HP:0001770	Toe syndactyly
ORPHA:2052	FRAS1	80144	HP:0006101	Finger syndactyly
ORPHA:2052	GRIP1	23426	HP:0000003	Multicystic kidney dysplasia
ORPHA:2052	GRIP1	23426	HP:0000528	Anophthalmia
ORPHA:2052	GRIP1	23426	HP:0000062	Ambiguous genitalia
ORPHA:2052	GRIP1	23426	HP:0002023	Anal atresia
ORPHA:2052	GRIP1	23426	HP:0010458	Female pseudohermaphroditism
ORPHA:2052	GRIP1	23426	HP:0007925	Lacrimal duct aplasia
ORPHA:2052	GRIP1	23426	HP:0000431	Wide nasal bridge
ORPHA:2052	GRIP1	23426	HP:0008736	Hypoplasia of penis
ORPHA:2052	GRIP1	23426	HP:0000678	Dental crowding
ORPHA:2052	GRIP1	23426	HP:0005280	Depressed nasal bridge
ORPHA:2052	GRIP1	23426	HP:0000089	Renal hypoplasia
ORPHA:2052	GRIP1	23426	HP:0008572	External ear malformation
ORPHA:2052	GRIP1	23426	HP:0000148	Vaginal atresia
ORPHA:2052	GRIP1	23426	HP:0001126	Cryptophthalmos
ORPHA:2052	GRIP1	23426	HP:0007993	Malformed lacrimal ducts
ORPHA:2052	GRIP1	23426	HP:0000316	Hypertelorism
ORPHA:2052	GRIP1	23426	HP:0000618	Blindness
ORPHA:2052	GRIP1	23426	HP:0010297	Bifid tongue
ORPHA:2052	GRIP1	23426	HP:0000568	Microphthalmia
ORPHA:2052	GRIP1	23426	HP:0000689	Dental malocclusion
ORPHA:2052	GRIP1	23426	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2052	GRIP1	23426	HP:0000046	Scrotal hypoplasia
ORPHA:2052	GRIP1	23426	HP:0002025	Anal stenosis
ORPHA:2052	GRIP1	23426	HP:0003183	Wide pubic symphysis
ORPHA:2052	GRIP1	23426	HP:0001602	Laryngeal stenosis
ORPHA:2052	GRIP1	23426	HP:0001770	Toe syndactyly
ORPHA:2052	GRIP1	23426	HP:0006101	Finger syndactyly
ORPHA:2052	FREM2	341640	HP:0000003	Multicystic kidney dysplasia
ORPHA:2052	FREM2	341640	HP:0000528	Anophthalmia
ORPHA:2052	FREM2	341640	HP:0000062	Ambiguous genitalia
ORPHA:2052	FREM2	341640	HP:0002023	Anal atresia
ORPHA:2052	FREM2	341640	HP:0010458	Female pseudohermaphroditism
ORPHA:2052	FREM2	341640	HP:0007925	Lacrimal duct aplasia
ORPHA:2052	FREM2	341640	HP:0000431	Wide nasal bridge
ORPHA:2052	FREM2	341640	HP:0008736	Hypoplasia of penis
ORPHA:2052	FREM2	341640	HP:0000678	Dental crowding
ORPHA:2052	FREM2	341640	HP:0005280	Depressed nasal bridge
ORPHA:2052	FREM2	341640	HP:0000089	Renal hypoplasia
ORPHA:2052	FREM2	341640	HP:0008572	External ear malformation
ORPHA:2052	FREM2	341640	HP:0000148	Vaginal atresia
ORPHA:2052	FREM2	341640	HP:0001126	Cryptophthalmos
ORPHA:2052	FREM2	341640	HP:0007993	Malformed lacrimal ducts
ORPHA:2052	FREM2	341640	HP:0000316	Hypertelorism
ORPHA:2052	FREM2	341640	HP:0000618	Blindness
ORPHA:2052	FREM2	341640	HP:0010297	Bifid tongue
ORPHA:2052	FREM2	341640	HP:0000568	Microphthalmia
ORPHA:2052	FREM2	341640	HP:0000689	Dental malocclusion
ORPHA:2052	FREM2	341640	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2052	FREM2	341640	HP:0000046	Scrotal hypoplasia
ORPHA:2052	FREM2	341640	HP:0002025	Anal stenosis
ORPHA:2052	FREM2	341640	HP:0003183	Wide pubic symphysis
ORPHA:2052	FREM2	341640	HP:0001602	Laryngeal stenosis
ORPHA:2052	FREM2	341640	HP:0001770	Toe syndactyly
ORPHA:2052	FREM2	341640	HP:0006101	Finger syndactyly
ORPHA:228390	ALX4	60529	HP:0000316	Hypertelorism
ORPHA:228390	ALX4	60529	HP:0004440	Coronal craniosynostosis
ORPHA:228390	ALX4	60529	HP:0001274	Agenesis of corpus callosum
ORPHA:228390	ALX4	60529	HP:0011803	Bifid nose
ORPHA:228390	ALX4	60529	HP:0001256	Intellectual disability, mild
ORPHA:228390	ALX4	60529	HP:0002213	Fine hair
ORPHA:228390	ALX4	60529	HP:0000582	Upslanted palpebral fissure
ORPHA:228390	ALX4	60529	HP:0002084	Encephalocele
ORPHA:228390	ALX4	60529	HP:0000046	Scrotal hypoplasia
ORPHA:228390	ALX4	60529	HP:0001562	Oligohydramnios
ORPHA:228390	ALX4	60529	HP:0001511	Intrauterine growth retardation
ORPHA:228390	ALX4	60529	HP:0000506	Telecanthus
ORPHA:228390	ALX4	60529	HP:0002335	Agenesis of cerebellar vermis
ORPHA:228390	ALX4	60529	HP:0002342	Intellectual disability, moderate
ORPHA:228390	ALX4	60529	HP:0001362	Calvarial skull defect
ORPHA:228390	ALX4	60529	HP:0000430	Underdeveloped nasal alae
ORPHA:228390	ALX4	60529	HP:0000289	Broad philtrum
ORPHA:228390	ALX4	60529	HP:0000248	Brachycephaly
ORPHA:228390	ALX4	60529	HP:0000135	Hypogonadism
ORPHA:228390	ALX4	60529	HP:0000028	Cryptorchidism
ORPHA:228390	ALX4	60529	HP:0005280	Depressed nasal bridge
ORPHA:228390	ALX4	60529	HP:0002007	Frontal bossing
ORPHA:228390	ALX4	60529	HP:0000369	Low-set ears
ORPHA:228390	ALX4	60529	HP:0000698	Conical tooth
ORPHA:228390	ALX4	60529	HP:0000639	Nystagmus
ORPHA:228390	ALX4	60529	HP:0000463	Anteverted nares
ORPHA:228390	ALX4	60529	HP:0000486	Strabismus
ORPHA:228390	ALX4	60529	HP:0000568	Microphthalmia
ORPHA:228390	ALX4	60529	HP:0001596	Alopecia
OMIM:615517	FTH1	2495	HP:0003281	Increased serum ferritin
OMIM:615517	FTH1	2495	HP:0000006	Autosomal dominant inheritance
OMIM:300982	KLHL15	80311	HP:0000280	Coarse facial features
OMIM:300982	KLHL15	80311	HP:0000463	Anteverted nares
OMIM:300982	KLHL15	80311	HP:0001419	X-linked recessive inheritance
OMIM:300982	KLHL15	80311	HP:0002126	Polymicrogyria
OMIM:300982	KLHL15	80311	HP:0001263	Global developmental delay
OMIM:300982	KLHL15	80311	HP:0001250	Seizures
OMIM:300982	KLHL15	80311	HP:0001249	Intellectual disability
OMIM:300982	KLHL15	80311	HP:0002119	Ventriculomegaly
OMIM:300982	KLHL15	80311	HP:0000028	Cryptorchidism
OMIM:300982	KLHL15	80311	HP:0000054	Micropenis
OMIM:300982	KLHL15	80311	HP:0000154	Wide mouth
OMIM:300982	KLHL15	80311	HP:0001344	Absent speech
OMIM:604805	RTN2	6253	HP:0000012	Urinary urgency
OMIM:604805	RTN2	6253	HP:0001258	Spastic paraplegia
OMIM:604805	RTN2	6253	HP:0001761	Pes cavus
OMIM:604805	RTN2	6253	HP:0000020	Urinary incontinence
OMIM:604805	RTN2	6253	HP:0001347	Hyperreflexia
OMIM:604805	RTN2	6253	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604805	RTN2	6253	HP:0003487	Babinski sign
OMIM:604805	RTN2	6253	HP:0011449	Knee clonus
OMIM:604805	RTN2	6253	HP:0007340	Lower limb muscle weakness
OMIM:604805	RTN2	6253	HP:0011448	Ankle clonus
OMIM:604805	RTN2	6253	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604805	RTN2	6253	HP:0003676	Progressive
OMIM:604805	RTN2	6253	HP:0002064	Spastic gait
OMIM:604805	RTN2	6253	HP:0000006	Autosomal dominant inheritance
OMIM:617143	SLC5A7	60482	HP:0001290	Generalized hypotonia
OMIM:617143	SLC5A7	60482	HP:0000007	Autosomal recessive inheritance
OMIM:617143	SLC5A7	60482	HP:0000597	Ophthalmoparesis
OMIM:617143	SLC5A7	60482	HP:0000508	Ptosis
OMIM:617143	SLC5A7	60482	HP:0001283	Bulbar palsy
OMIM:617143	SLC5A7	60482	HP:0010628	Facial palsy
OMIM:617143	SLC5A7	60482	HP:0002033	Poor suck
OMIM:617143	SLC5A7	60482	HP:0002808	Kyphosis
OMIM:617143	SLC5A7	60482	HP:0001618	Dysphonia
OMIM:617143	SLC5A7	60482	HP:0002650	Scoliosis
OMIM:617143	SLC5A7	60482	HP:0010307	Stridor
OMIM:617143	SLC5A7	60482	HP:0000467	Neck muscle weakness
OMIM:617143	SLC5A7	60482	HP:0003828	Variable expressivity
OMIM:617143	SLC5A7	60482	HP:0002015	Dysphagia
OMIM:614753	NFIX	4784	HP:0000232	Everted lower lip vermilion
OMIM:614753	NFIX	4784	HP:0000540	Hypermetropia
OMIM:614753	NFIX	4784	HP:0001249	Intellectual disability
OMIM:614753	NFIX	4784	HP:0100807	Long fingers
OMIM:614753	NFIX	4784	HP:0005616	Accelerated skeletal maturation
OMIM:614753	NFIX	4784	HP:0000494	Downslanted palpebral fissures
OMIM:614753	NFIX	4784	HP:0001270	Motor delay
OMIM:614753	NFIX	4784	HP:0001290	Generalized hypotonia
OMIM:614753	NFIX	4784	HP:0000965	Cutis marmorata
OMIM:614753	NFIX	4784	HP:0000256	Macrocephaly
OMIM:614753	NFIX	4784	HP:0000639	Nystagmus
OMIM:614753	NFIX	4784	HP:0000275	Narrow face
OMIM:614753	NFIX	4784	HP:0000767	Pectus excavatum
OMIM:614753	NFIX	4784	HP:0000006	Autosomal dominant inheritance
OMIM:614753	NFIX	4784	HP:0000739	Anxiety
OMIM:614753	NFIX	4784	HP:0002119	Ventriculomegaly
OMIM:614753	NFIX	4784	HP:0006288	Advanced eruption of teeth
OMIM:614753	NFIX	4784	HP:0000486	Strabismus
OMIM:614753	NFIX	4784	HP:0000160	Narrow mouth
OMIM:614753	NFIX	4784	HP:0002650	Scoliosis
OMIM:614753	NFIX	4784	HP:0000276	Long face
OMIM:614753	NFIX	4784	HP:0002673	Coxa valga
OMIM:614753	NFIX	4784	HP:0000348	High forehead
OMIM:614753	NFIX	4784	HP:0001548	Overgrowth
OMIM:614753	NFIX	4784	HP:0000303	Mandibular prognathia
OMIM:614753	NFIX	4784	HP:0000483	Astigmatism
OMIM:614753	NFIX	4784	HP:0000750	Delayed speech and language development
OMIM:616564	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:616564	LZTR1	8216	HP:0000508	Ptosis
OMIM:616564	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:616564	LZTR1	8216	HP:0001718	Mitral stenosis
OMIM:616564	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:616564	LZTR1	8216	HP:0000470	Short neck
OMIM:616564	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:616564	LZTR1	8216	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:616564	LZTR1	8216	HP:0000766	Abnormality of the sternum
OMIM:616564	LZTR1	8216	HP:0001680	Coarctation of aorta
OMIM:616564	LZTR1	8216	HP:0004322	Short stature
OMIM:613494	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:613494	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:613494	TNFRSF13C	115650	HP:0006532	Recurrent pneumonia
OMIM:613494	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:613494	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:613494	TNFRSF13C	115650	HP:0003581	Adult onset
OMIM:613494	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:613494	TNFRSF13C	115650	HP:0003812	Phenotypic variability
OMIM:616503	ADGRG6	57211	HP:0000007	Autosomal recessive inheritance
OMIM:616503	ADGRG6	57211	HP:0000369	Low-set ears
OMIM:616503	ADGRG6	57211	HP:0000219	Thin upper lip vermilion
OMIM:616503	ADGRG6	57211	HP:0001558	Decreased fetal movement
OMIM:616503	ADGRG6	57211	HP:0000325	Triangular face
OMIM:616503	ADGRG6	57211	HP:0003812	Phenotypic variability
OMIM:616503	ADGRG6	57211	HP:0002089	Pulmonary hypoplasia
OMIM:616503	ADGRG6	57211	HP:0001762	Talipes equinovarus
OMIM:616503	ADGRG6	57211	HP:0001511	Intrauterine growth retardation
OMIM:616503	ADGRG6	57211	HP:0005280	Depressed nasal bridge
OMIM:616503	ADGRG6	57211	HP:0009487	Ulnar deviation of the hand
OMIM:616503	ADGRG6	57211	HP:0000316	Hypertelorism
OMIM:616503	ADGRG6	57211	HP:0001561	Polyhydramnios
OMIM:616503	ADGRG6	57211	HP:0002803	Congenital contracture
OMIM:616503	ADGRG6	57211	HP:0000347	Micrognathia
OMIM:616503	ADGRG6	57211	HP:0001181	Adducted thumb
OMIM:616503	ADGRG6	57211	HP:0000463	Anteverted nares
OMIM:601847	ABCB11	8647	HP:0001394	Cirrhosis
OMIM:601847	ABCB11	8647	HP:0002240	Hepatomegaly
OMIM:601847	ABCB11	8647	HP:0003593	Infantile onset
OMIM:601847	ABCB11	8647	HP:0000989	Pruritus
OMIM:601847	ABCB11	8647	HP:0002908	Conjugated hyperbilirubinemia
OMIM:601847	ABCB11	8647	HP:0001744	Splenomegaly
OMIM:601847	ABCB11	8647	HP:0002014	Diarrhea
OMIM:601847	ABCB11	8647	HP:0001402	Hepatocellular carcinoma
OMIM:601847	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:601847	ABCB11	8647	HP:0003819	Death in childhood
OMIM:601847	ABCB11	8647	HP:0004322	Short stature
OMIM:601847	ABCB11	8647	HP:0001046	Intermittent jaundice
OMIM:601847	ABCB11	8647	HP:0000007	Autosomal recessive inheritance
OMIM:601847	ABCB11	8647	HP:0001508	Failure to thrive
OMIM:601847	ABCB11	8647	HP:0002630	Fat malabsorption
OMIM:601847	ABCB11	8647	HP:0003155	Elevated alkaline phosphatase
ORPHA:220497	NPHP1	4867	HP:0001249	Intellectual disability
ORPHA:220497	NPHP1	4867	HP:0011968	Feeding difficulties
ORPHA:220497	NPHP1	4867	HP:0001252	Muscular hypotonia
ORPHA:220497	NPHP1	4867	HP:0000639	Nystagmus
ORPHA:220497	NPHP1	4867	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:220497	NPHP1	4867	HP:0000276	Long face
ORPHA:220497	NPHP1	4867	HP:0002419	Molar tooth sign on MRI
ORPHA:220497	NPHP1	4867	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220497	NPHP1	4867	HP:0001251	Ataxia
ORPHA:220497	NPHP1	4867	HP:0001263	Global developmental delay
ORPHA:220497	NPHP1	4867	HP:0001288	Gait disturbance
ORPHA:220497	NPHP1	4867	HP:0000112	Nephropathy
ORPHA:220497	NPHP1	4867	HP:0000657	Oculomotor apraxia
ORPHA:220497	NPHP1	4867	HP:0004422	Biparietal narrowing
ORPHA:220497	NPHP1	4867	HP:0002104	Apnea
ORPHA:220497	TMEM237	65062	HP:0001249	Intellectual disability
ORPHA:220497	TMEM237	65062	HP:0011968	Feeding difficulties
ORPHA:220497	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHA:220497	TMEM237	65062	HP:0000639	Nystagmus
ORPHA:220497	TMEM237	65062	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:220497	TMEM237	65062	HP:0000276	Long face
ORPHA:220497	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
ORPHA:220497	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220497	TMEM237	65062	HP:0001251	Ataxia
ORPHA:220497	TMEM237	65062	HP:0001263	Global developmental delay
ORPHA:220497	TMEM237	65062	HP:0001288	Gait disturbance
ORPHA:220497	TMEM237	65062	HP:0000112	Nephropathy
ORPHA:220497	TMEM237	65062	HP:0000657	Oculomotor apraxia
ORPHA:220497	TMEM237	65062	HP:0004422	Biparietal narrowing
ORPHA:220497	TMEM237	65062	HP:0002104	Apnea
ORPHA:220497	RPGRIP1L	23322	HP:0001249	Intellectual disability
ORPHA:220497	RPGRIP1L	23322	HP:0011968	Feeding difficulties
ORPHA:220497	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
ORPHA:220497	RPGRIP1L	23322	HP:0000639	Nystagmus
ORPHA:220497	RPGRIP1L	23322	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:220497	RPGRIP1L	23322	HP:0000276	Long face
ORPHA:220497	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
ORPHA:220497	RPGRIP1L	23322	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:220497	RPGRIP1L	23322	HP:0001251	Ataxia
ORPHA:220497	RPGRIP1L	23322	HP:0001263	Global developmental delay
ORPHA:220497	RPGRIP1L	23322	HP:0001288	Gait disturbance
ORPHA:220497	RPGRIP1L	23322	HP:0000112	Nephropathy
ORPHA:220497	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
ORPHA:220497	RPGRIP1L	23322	HP:0004422	Biparietal narrowing
ORPHA:220497	RPGRIP1L	23322	HP:0002104	Apnea
OMIM:616816	CCDC174	51244	HP:0001629	Ventricular septal defect
OMIM:616816	CCDC174	51244	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:616816	CCDC174	51244	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616816	CCDC174	51244	HP:0006829	Severe muscular hypotonia
OMIM:616816	CCDC174	51244	HP:0000276	Long face
OMIM:616816	CCDC174	51244	HP:0001319	Neonatal hypotonia
OMIM:616816	CCDC174	51244	HP:0000007	Autosomal recessive inheritance
OMIM:616816	CCDC174	51244	HP:0001558	Decreased fetal movement
OMIM:616816	CCDC174	51244	HP:0000028	Cryptorchidism
OMIM:616816	CCDC174	51244	HP:0000194	Open mouth
OMIM:616816	CCDC174	51244	HP:0006956	Dilation of lateral ventricles
OMIM:616816	CCDC174	51244	HP:0000750	Delayed speech and language development
OMIM:616816	CCDC174	51244	HP:0000486	Strabismus
OMIM:616816	CCDC174	51244	HP:0001263	Global developmental delay
OMIM:616816	CCDC174	51244	HP:0003198	Myopathy
OMIM:616816	CCDC174	51244	HP:0002058	Myopathic facies
ORPHA:773	PHYH	5264	HP:0000518	Cataract
ORPHA:773	PHYH	5264	HP:0010864	Intellectual disability, severe
ORPHA:773	PHYH	5264	HP:0010049	Short metacarpal
ORPHA:773	PHYH	5264	HP:0000407	Sensorineural hearing impairment
ORPHA:773	PHYH	5264	HP:0000616	Miosis
ORPHA:773	PHYH	5264	HP:0007703	Abnormality of retinal pigmentation
ORPHA:773	PHYH	5264	HP:0000958	Dry skin
ORPHA:773	PHYH	5264	HP:0008064	Ichthyosis
ORPHA:773	PHYH	5264	HP:0002652	Skeletal dysplasia
ORPHA:773	PHYH	5264	HP:0001744	Splenomegaly
ORPHA:773	PHYH	5264	HP:0004374	Hemiplegia/hemiparesis
ORPHA:773	PHYH	5264	HP:0003202	Skeletal muscle atrophy
ORPHA:773	PHYH	5264	HP:0001638	Cardiomyopathy
ORPHA:773	PHYH	5264	HP:0002376	Developmental regression
ORPHA:773	PHYH	5264	HP:0000508	Ptosis
ORPHA:773	PHYH	5264	HP:0001252	Muscular hypotonia
ORPHA:773	PHYH	5264	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:773	PHYH	5264	HP:0007256	Abnormal pyramidal signs
ORPHA:773	PHYH	5264	HP:0000488	Retinopathy
ORPHA:773	PHYH	5264	HP:0000505	Visual impairment
ORPHA:773	PHYH	5264	HP:0002164	Nail dysplasia
ORPHA:773	PHYH	5264	HP:0009830	Peripheral neuropathy
ORPHA:773	PHYH	5264	HP:0000662	Nyctalopia
ORPHA:773	PHYH	5264	HP:0005930	Abnormality of epiphysis morphology
ORPHA:773	PHYH	5264	HP:0001251	Ataxia
ORPHA:773	PHYH	5264	HP:0000458	Anosmia
ORPHA:773	PHYH	5264	HP:0001765	Hammertoe
ORPHA:773	PEX7	5191	HP:0000518	Cataract
ORPHA:773	PEX7	5191	HP:0010864	Intellectual disability, severe
ORPHA:773	PEX7	5191	HP:0010049	Short metacarpal
ORPHA:773	PEX7	5191	HP:0000407	Sensorineural hearing impairment
ORPHA:773	PEX7	5191	HP:0000616	Miosis
ORPHA:773	PEX7	5191	HP:0007703	Abnormality of retinal pigmentation
ORPHA:773	PEX7	5191	HP:0000958	Dry skin
ORPHA:773	PEX7	5191	HP:0008064	Ichthyosis
ORPHA:773	PEX7	5191	HP:0002652	Skeletal dysplasia
ORPHA:773	PEX7	5191	HP:0001744	Splenomegaly
ORPHA:773	PEX7	5191	HP:0004374	Hemiplegia/hemiparesis
ORPHA:773	PEX7	5191	HP:0003202	Skeletal muscle atrophy
ORPHA:773	PEX7	5191	HP:0001638	Cardiomyopathy
ORPHA:773	PEX7	5191	HP:0002376	Developmental regression
ORPHA:773	PEX7	5191	HP:0000508	Ptosis
ORPHA:773	PEX7	5191	HP:0001252	Muscular hypotonia
ORPHA:773	PEX7	5191	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:773	PEX7	5191	HP:0007256	Abnormal pyramidal signs
ORPHA:773	PEX7	5191	HP:0000488	Retinopathy
ORPHA:773	PEX7	5191	HP:0000505	Visual impairment
ORPHA:773	PEX7	5191	HP:0002164	Nail dysplasia
ORPHA:773	PEX7	5191	HP:0009830	Peripheral neuropathy
ORPHA:773	PEX7	5191	HP:0000662	Nyctalopia
ORPHA:773	PEX7	5191	HP:0005930	Abnormality of epiphysis morphology
ORPHA:773	PEX7	5191	HP:0001251	Ataxia
ORPHA:773	PEX7	5191	HP:0000458	Anosmia
ORPHA:773	PEX7	5191	HP:0001765	Hammertoe
OMIM:613704	GDF3	9573	HP:0000568	Microphthalmia
ORPHA:77261	GBA	2629	HP:0001789	Hydrops fetalis
ORPHA:77261	GBA	2629	HP:0000486	Strabismus
ORPHA:77261	GBA	2629	HP:0001288	Gait disturbance
ORPHA:77261	GBA	2629	HP:0002750	Delayed skeletal maturation
ORPHA:77261	GBA	2629	HP:0010885	Aseptic necrosis
ORPHA:77261	GBA	2629	HP:0001298	Encephalopathy
ORPHA:77261	GBA	2629	HP:0002659	Increased susceptibility to fractures
ORPHA:77261	GBA	2629	HP:0011001	Increased bone mineral density
ORPHA:77261	GBA	2629	HP:0001873	Thrombocytopenia
ORPHA:77261	GBA	2629	HP:0000726	Dementia
ORPHA:77261	GBA	2629	HP:0001744	Splenomegaly
ORPHA:77261	GBA	2629	HP:0002240	Hepatomegaly
ORPHA:77261	GBA	2629	HP:0000602	Ophthalmoplegia
ORPHA:77261	GBA	2629	HP:0010702	Increased antibody level in blood
ORPHA:77261	GBA	2629	HP:0012378	Fatigue
ORPHA:77261	GBA	2629	HP:0002797	Osteolysis
ORPHA:77261	GBA	2629	HP:0001251	Ataxia
ORPHA:77261	GBA	2629	HP:0002653	Bone pain
ORPHA:77261	GBA	2629	HP:0000823	Delayed puberty
ORPHA:77261	GBA	2629	HP:0002123	Generalized myoclonic seizures
ORPHA:77261	GBA	2629	HP:0001876	Pancytopenia
ORPHA:77261	GBA	2629	HP:0001903	Anemia
OMIM:609136	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:609136	SOX10	6663	HP:0002936	Distal sensory impairment
OMIM:609136	SOX10	6663	HP:0004336	Myelin outfoldings
OMIM:609136	SOX10	6663	HP:0003693	Distal amyotrophy
OMIM:609136	SOX10	6663	HP:0007266	Cerebral dysmyelination
OMIM:609136	SOX10	6663	HP:0000762	Decreased nerve conduction velocity
OMIM:609136	SOX10	6663	HP:0001265	Hyporeflexia
OMIM:609136	SOX10	6663	HP:0002227	White eyelashes
OMIM:609136	SOX10	6663	HP:0004463	Absent brainstem auditory responses
OMIM:609136	SOX10	6663	HP:0000522	Alacrima
OMIM:609136	SOX10	6663	HP:0007108	Demyelinating peripheral neuropathy
OMIM:609136	SOX10	6663	HP:0011285	Long-segment aganglionic megacolon
OMIM:609136	SOX10	6663	HP:0011096	Peripheral demyelination
OMIM:609136	SOX10	6663	HP:0002460	Distal muscle weakness
OMIM:609136	SOX10	6663	HP:0002211	White forelock
OMIM:609136	SOX10	6663	HP:0000458	Anosmia
OMIM:609136	SOX10	6663	HP:0000639	Nystagmus
OMIM:609136	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:609136	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:609136	SOX10	6663	HP:0007182	Peripheral hypomyelination
OMIM:609136	SOX10	6663	HP:0001251	Ataxia
OMIM:609136	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:609136	SOX10	6663	HP:0001761	Pes cavus
OMIM:609136	SOX10	6663	HP:0001284	Areflexia
OMIM:609136	SOX10	6663	HP:0011382	Hypoplasia of the semicircular canal
OMIM:609136	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:609136	SOX10	6663	HP:0002271	Autonomic dysregulation
OMIM:609136	SOX10	6663	HP:0001319	Neonatal hypotonia
OMIM:609136	SOX10	6663	HP:0002313	Spastic paraparesis
OMIM:609136	SOX10	6663	HP:0001249	Intellectual disability
OMIM:609136	SOX10	6663	HP:0001263	Global developmental delay
OMIM:609136	SOX10	6663	HP:0002226	White eyebrow
OMIM:609136	SOX10	6663	HP:0002510	Spastic tetraplegia
OMIM:609136	SOX10	6663	HP:0006978	Dysmyelinating leukodystrophy
ORPHA:71212	HADH	3033	HP:0030781	Increased circulating free fatty acid level
ORPHA:71212	HADH	3033	HP:0003215	Dicarboxylic aciduria
ORPHA:71212	HADH	3033	HP:0003508	Proportionate short stature
ORPHA:71212	HADH	3033	HP:0001254	Lethargy
ORPHA:71212	HADH	3033	HP:0001511	Intrauterine growth retardation
ORPHA:71212	HADH	3033	HP:0008283	Fasting hyperinsulinemia
ORPHA:71212	HADH	3033	HP:0030796	Increased C-peptide level
ORPHA:71212	HADH	3033	HP:0001397	Hepatic steatosis
ORPHA:71212	HADH	3033	HP:0001998	Neonatal hypoglycemia
ORPHA:71212	HADH	3033	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:71212	HADH	3033	HP:0002910	Elevated hepatic transaminases
ORPHA:71212	HADH	3033	HP:0001289	Confusion
ORPHA:71212	HADH	3033	HP:0012071	Abnormality of acetylcarnitine metabolism
ORPHA:71212	HADH	3033	HP:0002014	Diarrhea
ORPHA:71212	HADH	3033	HP:0001319	Neonatal hypotonia
ORPHA:71212	HADH	3033	HP:0100950	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
ORPHA:71212	HADH	3033	HP:0002013	Vomiting
ORPHA:71212	HADH	3033	HP:0001985	Hypoketotic hypoglycemia
ORPHA:71212	HADH	3033	HP:0002173	Hypoglycemic seizures
ORPHA:71212	HADH	3033	HP:0006929	Hypoglycemic encephalopathy
OMIM:161400	HCRT	3060	HP:0006896	Hypnopompic hallucinations
OMIM:161400	HCRT	3060	HP:0000006	Autosomal dominant inheritance
OMIM:161400	HCRT	3060	HP:0001425	Heterogeneous
OMIM:161400	HCRT	3060	HP:0002189	Excessive daytime sleepiness
OMIM:161400	HCRT	3060	HP:0002524	Cataplexy
OMIM:161400	HCRT	3060	HP:0002494	Abnormal rapid eye movement sleep
OMIM:161400	HCRT	3060	HP:0002519	Hypnagogic hallucinations
OMIM:161400	HCRT	3060	HP:0030050	Narcolepsy
OMIM:161400	HCRT	3060	HP:0002330	Paroxysmal drowsiness
OMIM:603387	PIK3R2	5296	HP:0000637	Long palpebral fissure
OMIM:603387	PIK3R2	5296	HP:0001263	Global developmental delay
OMIM:603387	PIK3R2	5296	HP:0100259	Postaxial polydactyly
OMIM:603387	PIK3R2	5296	HP:0001302	Pachygyria
OMIM:603387	PIK3R2	5296	HP:0002007	Frontal bossing
OMIM:603387	PIK3R2	5296	HP:0010775	Vascular ring
OMIM:603387	PIK3R2	5296	HP:0001090	Large eyes
OMIM:603387	PIK3R2	5296	HP:0002187	Intellectual disability, profound
OMIM:603387	PIK3R2	5296	HP:0002943	Thoracic scoliosis
OMIM:603387	PIK3R2	5296	HP:0002126	Polymicrogyria
OMIM:603387	PIK3R2	5296	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603387	PIK3R2	5296	HP:0006380	Knee flexion contracture
OMIM:603387	PIK3R2	5296	HP:0007074	Thick corpus callosum
OMIM:603387	PIK3R2	5296	HP:0000256	Macrocephaly
OMIM:603387	PIK3R2	5296	HP:0001250	Seizures
OMIM:603387	PIK3R2	5296	HP:0000508	Ptosis
OMIM:603387	PIK3R2	5296	HP:0000618	Blindness
OMIM:603387	PIK3R2	5296	HP:0001355	Megalencephaly
OMIM:603387	PIK3R2	5296	HP:0001631	Atrial septal defect
OMIM:603387	PIK3R2	5296	HP:0001653	Mitral regurgitation
OMIM:603387	PIK3R2	5296	HP:0001629	Ventricular septal defect
OMIM:603387	PIK3R2	5296	HP:0002808	Kyphosis
OMIM:603387	PIK3R2	5296	HP:0003202	Skeletal muscle atrophy
OMIM:603387	PIK3R2	5296	HP:0008936	Muscular hypotonia of the trunk
OMIM:603387	PIK3R2	5296	HP:0000006	Autosomal dominant inheritance
OMIM:603387	PIK3R2	5296	HP:0000238	Hydrocephalus
OMIM:613011	ITK	3702	HP:0002719	Recurrent infections
OMIM:613011	ITK	3702	HP:0011107	Recurrent aphthous stomatitis
OMIM:613011	ITK	3702	HP:0000007	Autosomal recessive inheritance
OMIM:613011	ITK	3702	HP:0002665	Lymphoma
OMIM:613011	ITK	3702	HP:0001873	Thrombocytopenia
OMIM:613011	ITK	3702	HP:0001876	Pancytopenia
OMIM:613011	ITK	3702	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:613011	ITK	3702	HP:0004315	IgG deficiency
OMIM:613011	ITK	3702	HP:0002716	Lymphadenopathy
OMIM:613011	ITK	3702	HP:0001744	Splenomegaly
OMIM:613011	ITK	3702	HP:0002240	Hepatomegaly
OMIM:613011	ITK	3702	HP:0001903	Anemia
OMIM:613011	ITK	3702	HP:0003621	Juvenile onset
OMIM:613011	ITK	3702	HP:0002960	Autoimmunity
OMIM:136900	TIMP3	7078	HP:0007754	Macular dystrophy
OMIM:136900	TIMP3	7078	HP:0000006	Autosomal dominant inheritance
OMIM:617049	NR1H4	9971	HP:0001987	Hyperammonemia
OMIM:617049	NR1H4	9971	HP:0003678	Rapidly progressive
OMIM:617049	NR1H4	9971	HP:0000007	Autosomal recessive inheritance
OMIM:617049	NR1H4	9971	HP:0001943	Hypoglycemia
OMIM:617049	NR1H4	9971	HP:0008151	Prolonged prothrombin time
OMIM:617049	NR1H4	9971	HP:0000952	Jaundice
OMIM:617049	NR1H4	9971	HP:0001508	Failure to thrive
OMIM:617049	NR1H4	9971	HP:0002910	Elevated hepatic transaminases
OMIM:617049	NR1H4	9971	HP:0001399	Hepatic failure
OMIM:617049	NR1H4	9971	HP:0001394	Cirrhosis
OMIM:190685	GATA1	2623	HP:0000272	Malar flattening
OMIM:190685	GATA1	2623	HP:0003745	Sporadic
OMIM:190685	GATA1	2623	HP:0001388	Joint laxity
OMIM:190685	GATA1	2623	HP:0002866	Hypoplastic iliac wing
OMIM:190685	GATA1	2623	HP:0001252	Muscular hypotonia
OMIM:190685	GATA1	2623	HP:0002251	Aganglionic megacolon
OMIM:190685	GATA1	2623	HP:0100867	Duodenal stenosis
OMIM:190685	GATA1	2623	HP:0004279	Short palm
OMIM:190685	GATA1	2623	HP:0000286	Epicanthus
OMIM:190685	GATA1	2623	HP:0005547	Myeloproliferative disorder
OMIM:190685	GATA1	2623	HP:0000582	Upslanted palpebral fissure
OMIM:190685	GATA1	2623	HP:0010808	Protruding tongue
OMIM:190685	GATA1	2623	HP:0000405	Conductive hearing impairment
OMIM:190685	GATA1	2623	HP:0000158	Macroglossia
OMIM:190685	GATA1	2623	HP:0002511	Alzheimer disease
OMIM:190685	GATA1	2623	HP:0004322	Short stature
OMIM:190685	GATA1	2623	HP:0002023	Anal atresia
OMIM:190685	GATA1	2623	HP:0000821	Hypothyroidism
OMIM:190685	GATA1	2623	HP:0001674	Complete atrioventricular canal defect
OMIM:190685	GATA1	2623	HP:0000474	Thickened nuchal skin fold
OMIM:190685	GATA1	2623	HP:0001249	Intellectual disability
OMIM:190685	GATA1	2623	HP:0004220	Short middle phalanx of the 5th finger
OMIM:190685	GATA1	2623	HP:0012368	Flat face
OMIM:190685	GATA1	2623	HP:0000954	Single transverse palmar crease
OMIM:190685	GATA1	2623	HP:0000248	Brachycephaly
OMIM:190685	GATA1	2623	HP:0003467	Atlantoaxial instability
OMIM:190685	GATA1	2623	HP:0006733	Acute megakaryocytic leukemia
OMIM:190685	GATA1	2623	HP:0001169	Broad palm
OMIM:190685	GATA1	2623	HP:0001088	Brushfield spots
OMIM:190685	GATA1	2623	HP:0008551	Microtia
OMIM:190685	GATA1	2623	HP:0003182	Shallow acetabular fossae
OMIM:601813	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:601813	LRP5	4041	HP:0007917	Tractional retinal detachment
OMIM:601813	LRP5	4041	HP:0001489	Posterior vitreous detachment
OMIM:601813	LRP5	4041	HP:0003593	Infantile onset
OMIM:601813	LRP5	4041	HP:0007685	Peripheral retinal avascularization
OMIM:601813	LRP5	4041	HP:0000523	Subcapsular cataract
OMIM:601813	LRP5	4041	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	LRP5	4041	HP:0001147	Retinal exudate
OMIM:601813	LRP5	4041	HP:0030490	Exudative vitreoretinopathy
OMIM:601813	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:601813	LRP5	4041	HP:0000938	Osteopenia
OMIM:601813	LRP5	4041	HP:0000618	Blindness
OMIM:601813	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:601813	LRP5	4041	HP:0007902	Vitreous hemorrhage
OMIM:601813	LRP5	4041	HP:0001493	Falciform retinal fold
OMIM:601813	LRP5	4041	HP:0007811	Horizontal pendular nystagmus
OMIM:125500	DSPP	1834	HP:0000700	Periapical bone loss
OMIM:125500	DSPP	1834	HP:0000703	Dentinogenesis imperfecta
OMIM:125500	DSPP	1834	HP:0000694	Shell teeth
OMIM:125500	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:139393	PMP22	5376	HP:0007131	Acute demyelinating polyneuropathy
ORPHA:3006	ALDH7A1	501	HP:0001263	Global developmental delay
ORPHA:3006	ALDH7A1	501	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:3006	ALDH7A1	501	HP:0002353	EEG abnormality
ORPHA:3006	ALDH7A1	501	HP:0001252	Muscular hypotonia
ORPHA:3006	ALDH7A1	501	HP:0002133	Status epilepticus
ORPHA:3006	ALDH7A1	501	HP:0002167	Neurological speech impairment
ORPHA:3006	ALDH7A1	501	HP:0001249	Intellectual disability
ORPHA:3006	ALDH7A1	501	HP:0100022	Abnormality of movement
ORPHA:3006	SLC13A5	284111	HP:0001263	Global developmental delay
ORPHA:3006	SLC13A5	284111	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:3006	SLC13A5	284111	HP:0002353	EEG abnormality
ORPHA:3006	SLC13A5	284111	HP:0001252	Muscular hypotonia
ORPHA:3006	SLC13A5	284111	HP:0002133	Status epilepticus
ORPHA:3006	SLC13A5	284111	HP:0002167	Neurological speech impairment
ORPHA:3006	SLC13A5	284111	HP:0001249	Intellectual disability
ORPHA:3006	SLC13A5	284111	HP:0100022	Abnormality of movement
ORPHA:3006	PLPBP	11212	HP:0001263	Global developmental delay
ORPHA:3006	PLPBP	11212	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:3006	PLPBP	11212	HP:0002353	EEG abnormality
ORPHA:3006	PLPBP	11212	HP:0001252	Muscular hypotonia
ORPHA:3006	PLPBP	11212	HP:0002133	Status epilepticus
ORPHA:3006	PLPBP	11212	HP:0002167	Neurological speech impairment
ORPHA:3006	PLPBP	11212	HP:0001249	Intellectual disability
ORPHA:3006	PLPBP	11212	HP:0100022	Abnormality of movement
ORPHA:93304	TRPV4	59341	HP:0000926	Platyspondyly
ORPHA:93304	TRPV4	59341	HP:0002751	Kyphoscoliosis
ORPHA:93304	TRPV4	59341	HP:0004322	Short stature
ORPHA:93304	TRPV4	59341	HP:0010306	Short thorax
ORPHA:93304	TRPV4	59341	HP:0004570	Increased vertebral height
ORPHA:231242	HBB	3043	HP:0001935	Microcytic anemia
ORPHA:231242	HBB	3043	HP:0011902	Abnormal hemoglobin
ORPHA:231242	HBB	3043	HP:0001744	Splenomegaly
OMIM:616410	TRPC3	7222	HP:0000006	Autosomal dominant inheritance
OMIM:616410	TRPC3	7222	HP:0003676	Progressive
OMIM:616410	TRPC3	7222	HP:0002317	Unsteady gait
OMIM:616410	TRPC3	7222	HP:0001272	Cerebellar atrophy
OMIM:616410	TRPC3	7222	HP:0003581	Adult onset
OMIM:210210	MCCC2	64087	HP:0001249	Intellectual disability
OMIM:210210	MCCC2	64087	HP:0001254	Lethargy
OMIM:210210	MCCC2	64087	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:210210	MCCC2	64087	HP:0001992	Organic aciduria
OMIM:210210	MCCC2	64087	HP:0003812	Phenotypic variability
OMIM:210210	MCCC2	64087	HP:0001259	Coma
OMIM:210210	MCCC2	64087	HP:0003108	Hyperglycinuria
OMIM:210210	MCCC2	64087	HP:0001250	Seizures
OMIM:210210	MCCC2	64087	HP:0001051	Seborrheic dermatitis
OMIM:210210	MCCC2	64087	HP:0011968	Feeding difficulties
OMIM:210210	MCCC2	64087	HP:0008281	Acute hyperammonemia
OMIM:210210	MCCC2	64087	HP:0003202	Skeletal muscle atrophy
OMIM:210210	MCCC2	64087	HP:0001942	Metabolic acidosis
OMIM:210210	MCCC2	64087	HP:0000007	Autosomal recessive inheritance
OMIM:210210	MCCC2	64087	HP:0001290	Generalized hypotonia
OMIM:210210	MCCC2	64087	HP:0002179	Opisthotonus
OMIM:210210	MCCC2	64087	HP:0001263	Global developmental delay
OMIM:210210	MCCC2	64087	HP:0001425	Heterogeneous
OMIM:210210	MCCC2	64087	HP:0001596	Alopecia
OMIM:210210	MCCC2	64087	HP:0002013	Vomiting
OMIM:210210	MCCC2	64087	HP:0001347	Hyperreflexia
OMIM:210210	MCCC2	64087	HP:0001993	Ketoacidosis
OMIM:210210	MCCC2	64087	HP:0001508	Failure to thrive
OMIM:615228	ATP5A1	498	HP:0000639	Nystagmus
OMIM:615228	ATP5A1	498	HP:0002089	Pulmonary hypoplasia
OMIM:615228	ATP5A1	498	HP:0002104	Apnea
OMIM:615228	ATP5A1	498	HP:0003577	Congenital onset
OMIM:615228	ATP5A1	498	HP:0000737	Irritability
OMIM:615228	ATP5A1	498	HP:0025430	High-pitched cry
OMIM:615228	ATP5A1	498	HP:0001298	Encephalopathy
OMIM:615228	ATP5A1	498	HP:0000007	Autosomal recessive inheritance
OMIM:615228	ATP5A1	498	HP:0001321	Cerebellar hypoplasia
ORPHA:2686	ELANE	1991	HP:0000704	Periodontitis
ORPHA:2686	ELANE	1991	HP:0001845	Overlapping toe
ORPHA:2686	ELANE	1991	HP:0001581	Recurrent skin infections
ORPHA:2686	ELANE	1991	HP:0100806	Sepsis
ORPHA:2686	ELANE	1991	HP:0000155	Oral ulcer
ORPHA:2686	ELANE	1991	HP:0001875	Neutropenia
ORPHA:2686	ELANE	1991	HP:0012378	Fatigue
ORPHA:2686	ELANE	1991	HP:0001903	Anemia
OMIM:617108	RNF43	54894	HP:0000006	Autosomal dominant inheritance
OMIM:615993	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615993	SDCCAG8	10806	HP:0011950	Bronchiolitis
OMIM:615993	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615993	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615993	SDCCAG8	10806	HP:0002205	Recurrent respiratory infections
OMIM:615993	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615993	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:615993	SDCCAG8	10806	HP:0000107	Renal cyst
OMIM:615993	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615993	SDCCAG8	10806	HP:0000083	Renal insufficiency
OMIM:615993	SDCCAG8	10806	HP:0002098	Respiratory distress
OMIM:615993	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615993	SDCCAG8	10806	HP:0000403	Recurrent otitis media
OMIM:615993	SDCCAG8	10806	HP:0000104	Renal agenesis
OMIM:615993	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615993	SDCCAG8	10806	HP:0000110	Renal dysplasia
OMIM:615993	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:121050	FBN2	2201	HP:0001181	Adducted thumb
OMIM:121050	FBN2	2201	HP:0008453	Congenital kyphoscoliosis
OMIM:121050	FBN2	2201	HP:0000006	Autosomal dominant inheritance
OMIM:121050	FBN2	2201	HP:0001166	Arachnodactyly
OMIM:121050	FBN2	2201	HP:0008962	Calf muscle hypoplasia
OMIM:121050	FBN2	2201	HP:0000470	Short neck
OMIM:121050	FBN2	2201	HP:0002007	Frontal bossing
OMIM:121050	FBN2	2201	HP:0000768	Pectus carinatum
OMIM:121050	FBN2	2201	HP:0001629	Ventricular septal defect
OMIM:121050	FBN2	2201	HP:0002999	Patellar dislocation
OMIM:121050	FBN2	2201	HP:0001653	Mitral regurgitation
OMIM:121050	FBN2	2201	HP:0000218	High palate
OMIM:121050	FBN2	2201	HP:0000248	Brachycephaly
OMIM:121050	FBN2	2201	HP:0001083	Ectopia lentis
OMIM:121050	FBN2	2201	HP:0000545	Myopia
OMIM:121050	FBN2	2201	HP:0010499	Patellar subluxation
OMIM:121050	FBN2	2201	HP:0001643	Patent ductus arteriosus
OMIM:121050	FBN2	2201	HP:0001840	Metatarsus adductus
OMIM:121050	FBN2	2201	HP:0009465	Ulnar deviation of finger
OMIM:121050	FBN2	2201	HP:0001647	Bicuspid aortic valve
OMIM:121050	FBN2	2201	HP:0005684	Distal arthrogryposis
OMIM:121050	FBN2	2201	HP:0000938	Osteopenia
OMIM:121050	FBN2	2201	HP:0002616	Aortic root dilatation
OMIM:121050	FBN2	2201	HP:0100490	Camptodactyly of finger
OMIM:121050	FBN2	2201	HP:0001631	Atrial septal defect
OMIM:121050	FBN2	2201	HP:0001519	Disproportionate tall stature
OMIM:121050	FBN2	2201	HP:0001634	Mitral valve prolapse
OMIM:121050	FBN2	2201	HP:0030799	Scaphocephaly
OMIM:121050	FBN2	2201	HP:0001270	Motor delay
OMIM:300166	BCOR	54880	HP:0000252	Microcephaly
OMIM:300166	BCOR	54880	HP:0001256	Intellectual disability, mild
OMIM:300166	BCOR	54880	HP:0000568	Microphthalmia
OMIM:300166	BCOR	54880	HP:0001634	Mitral valve prolapse
OMIM:300166	BCOR	54880	HP:0001631	Atrial septal defect
OMIM:300166	BCOR	54880	HP:0007733	Laterally curved eyebrow
OMIM:300166	BCOR	54880	HP:0001270	Motor delay
OMIM:300166	BCOR	54880	HP:0006335	Persistence of primary teeth
OMIM:300166	BCOR	54880	HP:0000426	Prominent nasal bridge
OMIM:300166	BCOR	54880	HP:0000581	Blepharophimosis
OMIM:300166	BCOR	54880	HP:0001643	Patent ductus arteriosus
OMIM:300166	BCOR	54880	HP:0000193	Bifid uvula
OMIM:300166	BCOR	54880	HP:0000456	Bifid nasal tip
OMIM:300166	BCOR	54880	HP:0000684	Delayed eruption of teeth
OMIM:300166	BCOR	54880	HP:0000501	Glaucoma
OMIM:300166	BCOR	54880	HP:0004691	2-3 toe syndactyly
OMIM:300166	BCOR	54880	HP:0010722	Asymmetry of the ears
OMIM:300166	BCOR	54880	HP:0000358	Posteriorly rotated ears
OMIM:300166	BCOR	54880	HP:0002974	Radioulnar synostosis
OMIM:300166	BCOR	54880	HP:0001629	Ventricular septal defect
OMIM:300166	BCOR	54880	HP:0000343	Long philtrum
OMIM:300166	BCOR	54880	HP:0000689	Dental malocclusion
OMIM:300166	BCOR	54880	HP:0000574	Thick eyebrow
OMIM:300166	BCOR	54880	HP:0000275	Narrow face
OMIM:300166	BCOR	54880	HP:0001650	Aortic valve stenosis
OMIM:300166	BCOR	54880	HP:0000519	Congenital cataract
OMIM:300166	BCOR	54880	HP:0000028	Cryptorchidism
OMIM:300166	BCOR	54880	HP:0001642	Pulmonic stenosis
OMIM:300166	BCOR	54880	HP:0011069	Increased number of teeth
OMIM:300166	BCOR	54880	HP:0000176	Submucous cleft hard palate
OMIM:300166	BCOR	54880	HP:0000482	Microcornea
OMIM:300166	BCOR	54880	HP:0000528	Anophthalmia
OMIM:300166	BCOR	54880	HP:0004322	Short stature
OMIM:300166	BCOR	54880	HP:0000577	Exotropia
OMIM:300166	BCOR	54880	HP:0000508	Ptosis
OMIM:300166	BCOR	54880	HP:0000407	Sensorineural hearing impairment
OMIM:300166	BCOR	54880	HP:0001153	Septate vagina
OMIM:300166	BCOR	54880	HP:0001423	X-linked dominant inheritance
OMIM:300166	BCOR	54880	HP:0001765	Hammertoe
OMIM:300166	BCOR	54880	HP:0000572	Visual loss
OMIM:300166	BCOR	54880	HP:0011090	Fused teeth
OMIM:300166	BCOR	54880	HP:0000455	Broad nasal tip
OMIM:300166	BCOR	54880	HP:0000276	Long face
OMIM:300166	BCOR	54880	HP:0000677	Oligodontia
OMIM:300166	BCOR	54880	HP:0007968	Remnants of the hyaloid vascular system
OMIM:602782	SLC29A3	55315	HP:0000815	Hypergonadotropic hypogonadism
OMIM:602782	SLC29A3	55315	HP:0001744	Splenomegaly
OMIM:602782	SLC29A3	55315	HP:0012385	Camptodactyly
OMIM:602782	SLC29A3	55315	HP:0025289	Cervical lymphadenopathy
OMIM:602782	SLC29A3	55315	HP:0001945	Fever
OMIM:602782	SLC29A3	55315	HP:0000520	Proptosis
OMIM:602782	SLC29A3	55315	HP:0000819	Diabetes mellitus
OMIM:602782	SLC29A3	55315	HP:0002987	Elbow flexion contracture
OMIM:602782	SLC29A3	55315	HP:0002240	Hepatomegaly
OMIM:602782	SLC29A3	55315	HP:0100534	Episcleritis
OMIM:602782	SLC29A3	55315	HP:0000824	Growth hormone deficiency
OMIM:602782	SLC29A3	55315	HP:0030084	Clinodactyly
OMIM:602782	SLC29A3	55315	HP:0001822	Hallux valgus
OMIM:602782	SLC29A3	55315	HP:0004322	Short stature
OMIM:602782	SLC29A3	55315	HP:0000407	Sensorineural hearing impairment
OMIM:602782	SLC29A3	55315	HP:0100727	Histiocytosis
OMIM:602782	SLC29A3	55315	HP:0003812	Phenotypic variability
OMIM:602782	SLC29A3	55315	HP:0000007	Autosomal recessive inheritance
ORPHA:2836	KIF1A	547	HP:0001272	Cerebellar atrophy
ORPHA:2836	KIF1A	547	HP:0010864	Intellectual disability, severe
ORPHA:2836	KIF1A	547	HP:0100540	Palpebral edema
ORPHA:2836	KIF1A	547	HP:0000648	Optic atrophy
ORPHA:2836	KIF1A	547	HP:0002521	Hypsarrhythmia
ORPHA:2836	KIF1A	547	HP:0002120	Cerebral cortical atrophy
ORPHA:2836	KIF1A	547	HP:0004422	Biparietal narrowing
ORPHA:2836	KIF1A	547	HP:0012469	Infantile spasms
ORPHA:2836	KIF1A	547	HP:0000572	Visual loss
ORPHA:2836	KIF1A	547	HP:0002329	Drowsiness
ORPHA:2836	KIF1A	547	HP:0000400	Macrotia
ORPHA:2836	KIF1A	547	HP:0002132	Porencephalic cyst
ORPHA:2836	KIF1A	547	HP:0008572	External ear malformation
ORPHA:2836	KIF1A	547	HP:0100022	Abnormality of movement
ORPHA:2836	KIF1A	547	HP:0003196	Short nose
ORPHA:2836	KIF1A	547	HP:0001182	Tapered finger
ORPHA:2836	KIF1A	547	HP:0001347	Hyperreflexia
ORPHA:2836	KIF1A	547	HP:0000252	Microcephaly
ORPHA:2836	KIF1A	547	HP:0001263	Global developmental delay
ORPHA:2836	KIF1A	547	HP:0000272	Malar flattening
ORPHA:2836	KIF1A	547	HP:0001376	Limitation of joint mobility
ORPHA:2836	KIF1A	547	HP:0000293	Full cheeks
ORPHA:2836	KIF1A	547	HP:0012398	Peripheral edema
ORPHA:2836	KIF1A	547	HP:0000286	Epicanthus
ORPHA:2836	KIF1A	547	HP:0002119	Ventriculomegaly
ORPHA:2836	KIF1A	547	HP:0006829	Severe muscular hypotonia
ORPHA:2836	KIF1A	547	HP:0007366	Atrophy/Degeneration affecting the brainstem
ORPHA:2836	KIF1A	547	HP:0010741	Edema of the lower limbs
ORPHA:2836	KIF1A	547	HP:0011800	Midface retrusion
ORPHA:2836	KIF1A	547	HP:0011968	Feeding difficulties
ORPHA:2836	KIF1A	547	HP:0000238	Hydrocephalus
ORPHA:2836	KIF1A	547	HP:0000212	Gingival overgrowth
ORPHA:2836	KIF1A	547	HP:0000177	Abnormality of upper lip
ORPHA:2836	KIF1A	547	HP:0000496	Abnormality of eye movement
ORPHA:2836	KIF1A	547	HP:0000174	Abnormality of the palate
ORPHA:2836	KIF1A	547	HP:0000194	Open mouth
ORPHA:2836	KIF1A	547	HP:0002205	Recurrent respiratory infections
ORPHA:2836	KIF1A	547	HP:0000463	Anteverted nares
ORPHA:2836	ZNHIT3	9326	HP:0001272	Cerebellar atrophy
ORPHA:2836	ZNHIT3	9326	HP:0010864	Intellectual disability, severe
ORPHA:2836	ZNHIT3	9326	HP:0100540	Palpebral edema
ORPHA:2836	ZNHIT3	9326	HP:0000648	Optic atrophy
ORPHA:2836	ZNHIT3	9326	HP:0002521	Hypsarrhythmia
ORPHA:2836	ZNHIT3	9326	HP:0002120	Cerebral cortical atrophy
ORPHA:2836	ZNHIT3	9326	HP:0004422	Biparietal narrowing
ORPHA:2836	ZNHIT3	9326	HP:0012469	Infantile spasms
ORPHA:2836	ZNHIT3	9326	HP:0000572	Visual loss
ORPHA:2836	ZNHIT3	9326	HP:0002329	Drowsiness
ORPHA:2836	ZNHIT3	9326	HP:0000400	Macrotia
ORPHA:2836	ZNHIT3	9326	HP:0002132	Porencephalic cyst
ORPHA:2836	ZNHIT3	9326	HP:0008572	External ear malformation
ORPHA:2836	ZNHIT3	9326	HP:0100022	Abnormality of movement
ORPHA:2836	ZNHIT3	9326	HP:0003196	Short nose
ORPHA:2836	ZNHIT3	9326	HP:0001182	Tapered finger
ORPHA:2836	ZNHIT3	9326	HP:0001347	Hyperreflexia
ORPHA:2836	ZNHIT3	9326	HP:0000252	Microcephaly
ORPHA:2836	ZNHIT3	9326	HP:0001263	Global developmental delay
ORPHA:2836	ZNHIT3	9326	HP:0000272	Malar flattening
ORPHA:2836	ZNHIT3	9326	HP:0001376	Limitation of joint mobility
ORPHA:2836	ZNHIT3	9326	HP:0000293	Full cheeks
ORPHA:2836	ZNHIT3	9326	HP:0012398	Peripheral edema
ORPHA:2836	ZNHIT3	9326	HP:0000286	Epicanthus
ORPHA:2836	ZNHIT3	9326	HP:0002119	Ventriculomegaly
ORPHA:2836	ZNHIT3	9326	HP:0006829	Severe muscular hypotonia
ORPHA:2836	ZNHIT3	9326	HP:0007366	Atrophy/Degeneration affecting the brainstem
ORPHA:2836	ZNHIT3	9326	HP:0010741	Edema of the lower limbs
ORPHA:2836	ZNHIT3	9326	HP:0011800	Midface retrusion
ORPHA:2836	ZNHIT3	9326	HP:0011968	Feeding difficulties
ORPHA:2836	ZNHIT3	9326	HP:0000238	Hydrocephalus
ORPHA:2836	ZNHIT3	9326	HP:0000212	Gingival overgrowth
ORPHA:2836	ZNHIT3	9326	HP:0000177	Abnormality of upper lip
ORPHA:2836	ZNHIT3	9326	HP:0000496	Abnormality of eye movement
ORPHA:2836	ZNHIT3	9326	HP:0000174	Abnormality of the palate
ORPHA:2836	ZNHIT3	9326	HP:0000194	Open mouth
ORPHA:2836	ZNHIT3	9326	HP:0002205	Recurrent respiratory infections
ORPHA:2836	ZNHIT3	9326	HP:0000463	Anteverted nares
OMIM:125630	ADGRE2	30817	HP:0000006	Autosomal dominant inheritance
OMIM:125630	ADGRE2	30817	HP:0001025	Urticaria
OMIM:125630	ADGRE2	30817	HP:0001041	Facial erythema
OMIM:613826	RPGRIP1	57096	HP:0000518	Cataract
OMIM:613826	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613826	RPGRIP1	57096	HP:0012043	Pendular nystagmus
OMIM:613826	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:613826	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:613826	RPGRIP1	57096	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:613826	RPGRIP1	57096	HP:0001141	Severe visual impairment
OMIM:613826	RPGRIP1	57096	HP:0008499	High-grade hypermetropia
ORPHA:610	COL12A1	1303	HP:0003198	Myopathy
ORPHA:610	COL12A1	1303	HP:0100490	Camptodactyly of finger
ORPHA:610	COL12A1	1303	HP:0003457	EMG abnormality
ORPHA:610	COL12A1	1303	HP:0001387	Joint stiffness
ORPHA:610	COL12A1	1303	HP:0004326	Cachexia
ORPHA:610	COL6A1	1291	HP:0003198	Myopathy
ORPHA:610	COL6A1	1291	HP:0100490	Camptodactyly of finger
ORPHA:610	COL6A1	1291	HP:0003457	EMG abnormality
ORPHA:610	COL6A1	1291	HP:0001387	Joint stiffness
ORPHA:610	COL6A1	1291	HP:0004326	Cachexia
ORPHA:610	COL6A2	1292	HP:0003198	Myopathy
ORPHA:610	COL6A2	1292	HP:0100490	Camptodactyly of finger
ORPHA:610	COL6A2	1292	HP:0003457	EMG abnormality
ORPHA:610	COL6A2	1292	HP:0001387	Joint stiffness
ORPHA:610	COL6A2	1292	HP:0004326	Cachexia
ORPHA:610	COL6A3	1293	HP:0003198	Myopathy
ORPHA:610	COL6A3	1293	HP:0100490	Camptodactyly of finger
ORPHA:610	COL6A3	1293	HP:0003457	EMG abnormality
ORPHA:610	COL6A3	1293	HP:0001387	Joint stiffness
ORPHA:610	COL6A3	1293	HP:0004326	Cachexia
OMIM:600649	CPT2	1376	HP:0001250	Seizures
OMIM:600649	CPT2	1376	HP:0002240	Hepatomegaly
OMIM:600649	CPT2	1376	HP:0001403	Macrovesicular hepatic steatosis
OMIM:600649	CPT2	1376	HP:0001644	Dilated cardiomyopathy
OMIM:600649	CPT2	1376	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600649	CPT2	1376	HP:0001985	Hypoketotic hypoglycemia
OMIM:600649	CPT2	1376	HP:0003593	Infantile onset
OMIM:600649	CPT2	1376	HP:0005943	Respiratory arrest
OMIM:600649	CPT2	1376	HP:0001640	Cardiomegaly
OMIM:600649	CPT2	1376	HP:0002013	Vomiting
OMIM:600649	CPT2	1376	HP:0001254	Lethargy
OMIM:600649	CPT2	1376	HP:0001987	Hyperammonemia
OMIM:600649	CPT2	1376	HP:0002910	Elevated hepatic transaminases
OMIM:600649	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:613861	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613861	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:181030	PLAG1	5324	HP:0001428	Somatic mutation
OMIM:181030	PLAG1	5324	HP:0000006	Autosomal dominant inheritance
OMIM:181030	PLAG1	5324	HP:0100684	Salivary gland neoplasm
OMIM:252900	SGSH	6448	HP:0000752	Hyperactivity
OMIM:252900	SGSH	6448	HP:0001387	Joint stiffness
OMIM:252900	SGSH	6448	HP:0002014	Diarrhea
OMIM:252900	SGSH	6448	HP:0001670	Asymmetric septal hypertrophy
OMIM:252900	SGSH	6448	HP:0000365	Hearing impairment
OMIM:252900	SGSH	6448	HP:0002208	Coarse hair
OMIM:252900	SGSH	6448	HP:0002360	Sleep disturbance
OMIM:252900	SGSH	6448	HP:0001250	Seizures
OMIM:252900	SGSH	6448	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252900	SGSH	6448	HP:0000250	Dense calvaria
OMIM:252900	SGSH	6448	HP:0000900	Thickened ribs
OMIM:252900	SGSH	6448	HP:0000943	Dysostosis multiplex
OMIM:252900	SGSH	6448	HP:0002240	Hepatomegaly
OMIM:252900	SGSH	6448	HP:0000280	Coarse facial features
OMIM:252900	SGSH	6448	HP:0002159	Heparan sulfate excretion in urine
OMIM:252900	SGSH	6448	HP:0000664	Synophrys
OMIM:252900	SGSH	6448	HP:0001744	Splenomegaly
OMIM:252900	SGSH	6448	HP:0001249	Intellectual disability
OMIM:252900	SGSH	6448	HP:0000007	Autosomal recessive inheritance
OMIM:252900	SGSH	6448	HP:0001507	Growth abnormality
OMIM:252900	SGSH	6448	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252900	SGSH	6448	HP:0001007	Hirsutism
OMIM:127000	FAM111A	63901	HP:0000006	Autosomal dominant inheritance
OMIM:127000	FAM111A	63901	HP:0001250	Seizures
OMIM:127000	FAM111A	63901	HP:0000256	Macrocephaly
OMIM:127000	FAM111A	63901	HP:0007862	Retinal calcification
OMIM:127000	FAM111A	63901	HP:0002135	Basal ganglia calcification
OMIM:127000	FAM111A	63901	HP:0001085	Papilledema
OMIM:127000	FAM111A	63901	HP:0100253	Abnormality of the medullary cavity of the long bones
OMIM:127000	FAM111A	63901	HP:0001903	Anemia
OMIM:127000	FAM111A	63901	HP:0004322	Short stature
OMIM:127000	FAM111A	63901	HP:0002901	Hypocalcemia
OMIM:127000	FAM111A	63901	HP:0011001	Increased bone mineral density
OMIM:127000	FAM111A	63901	HP:0000935	Thickened cortex of long bones
OMIM:127000	FAM111A	63901	HP:0000568	Microphthalmia
OMIM:127000	FAM111A	63901	HP:0000519	Congenital cataract
OMIM:127000	FAM111A	63901	HP:0000540	Hypermetropia
OMIM:127000	FAM111A	63901	HP:0000829	Hypoparathyroidism
OMIM:127000	FAM111A	63901	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:127000	FAM111A	63901	HP:0001518	Small for gestational age
OMIM:127000	FAM111A	63901	HP:0003510	Severe short stature
OMIM:127000	FAM111A	63901	HP:0008285	Transient hypophosphatemia
OMIM:127000	FAM111A	63901	HP:0011220	Prominent forehead
ORPHA:1216	TRPV4	59341	HP:0001387	Joint stiffness
ORPHA:1216	TRPV4	59341	HP:0008964	Nonprogressive muscular atrophy
ORPHA:1216	TRPV4	59341	HP:0003693	Distal amyotrophy
ORPHA:1216	TRPV4	59341	HP:0001252	Muscular hypotonia
ORPHA:1216	TRPV4	59341	HP:0004326	Cachexia
ORPHA:88637	POLR3B	55703	HP:0000668	Hypodontia
ORPHA:88637	POLR3B	55703	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:88637	POLR3B	55703	HP:0003429	CNS hypomyelination
ORPHA:88637	POLR3B	55703	HP:0001251	Ataxia
ORPHA:88637	POLR3A	11128	HP:0000668	Hypodontia
ORPHA:88637	POLR3A	11128	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:88637	POLR3A	11128	HP:0003429	CNS hypomyelination
ORPHA:88637	POLR3A	11128	HP:0001251	Ataxia
ORPHA:88637	POLR1C	9533	HP:0000668	Hypodontia
ORPHA:88637	POLR1C	9533	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:88637	POLR1C	9533	HP:0003429	CNS hypomyelination
ORPHA:88637	POLR1C	9533	HP:0001251	Ataxia
OMIM:263700	UROS	7390	HP:0011457	Loss of eyelashes
OMIM:263700	UROS	7390	HP:0000998	Hypertrichosis
OMIM:263700	UROS	7390	HP:0001878	Hemolytic anemia
OMIM:263700	UROS	7390	HP:0100324	Scleroderma
OMIM:263700	UROS	7390	HP:0002756	Pathologic fracture
OMIM:263700	UROS	7390	HP:0003577	Congenital onset
OMIM:263700	UROS	7390	HP:0000953	Hyperpigmentation of the skin
OMIM:263700	UROS	7390	HP:0002797	Osteolysis
OMIM:263700	UROS	7390	HP:0009473	Joint contracture of the hand
OMIM:263700	UROS	7390	HP:0002953	Vertebral compression fractures
OMIM:263700	UROS	7390	HP:0001010	Hypopigmentation of the skin
OMIM:263700	UROS	7390	HP:0001081	Cholelithiasis
OMIM:263700	UROS	7390	HP:0001072	Thickened skin
OMIM:263700	UROS	7390	HP:0000987	Atypical scarring of skin
OMIM:263700	UROS	7390	HP:0000938	Osteopenia
OMIM:263700	UROS	7390	HP:0001744	Splenomegaly
OMIM:263700	UROS	7390	HP:0000153	Abnormality of the mouth
OMIM:263700	UROS	7390	HP:0002223	Absent eyebrow
OMIM:263700	UROS	7390	HP:0000007	Autosomal recessive inheritance
OMIM:263700	UROS	7390	HP:0001596	Alopecia
OMIM:263700	UROS	7390	HP:0001873	Thrombocytopenia
OMIM:263700	UROS	7390	HP:0000992	Cutaneous photosensitivity
OMIM:263700	UROS	7390	HP:0004322	Short stature
OMIM:263700	UROS	7390	HP:0000559	Corneal scarring
OMIM:263700	UROS	7390	HP:0000509	Conjunctivitis
OMIM:604901	UTP4	84916	HP:0000007	Autosomal recessive inheritance
OMIM:604901	UTP4	84916	HP:0001409	Portal hypertension
OMIM:604901	UTP4	84916	HP:0002613	Biliary cirrhosis
OMIM:604901	UTP4	84916	HP:0006579	Prolonged neonatal jaundice
OMIM:129600	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:129600	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:233690	CYBA	1535	HP:0003621	Juvenile onset
OMIM:233690	CYBA	1535	HP:0002240	Hepatomegaly
OMIM:233690	CYBA	1535	HP:0006532	Recurrent pneumonia
OMIM:233690	CYBA	1535	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	CYBA	1535	HP:0100523	Liver abscess
OMIM:233690	CYBA	1535	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	CYBA	1535	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	CYBA	1535	HP:0002740	Recurrent E. coli infections
OMIM:233690	CYBA	1535	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	CYBA	1535	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	CYBA	1535	HP:0100658	Cellulitis
OMIM:233690	CYBA	1535	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	CYBA	1535	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	CYBA	1535	HP:0000976	Eczematoid dermatitis
OMIM:233690	CYBA	1535	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233690	CYBA	1535	HP:0002840	Lymphadenitis
OMIM:233690	CYBA	1535	HP:0005224	Rectal abscess
OMIM:233690	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:233690	CYBA	1535	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	CYBA	1535	HP:0002955	Granulomatosis
OMIM:233690	CYBA	1535	HP:0007417	Discoid lupus rash
OMIM:233690	CYBA	1535	HP:0001744	Splenomegaly
OMIM:233690	CYBA	1535	HP:0002716	Lymphadenopathy
OMIM:233690	CYBA	1535	HP:0002754	Osteomyelitis
OMIM:233690	CYBA	1535	HP:0003203	Negative nitroblue tetrazolium reduction test
OMIM:616946	ERCC6	2074	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:616946	ERCC6	2074	HP:0000869	Secondary amenorrhea
OMIM:616946	ERCC6	2074	HP:0000006	Autosomal dominant inheritance
OMIM:616946	ERCC6	2074	HP:0000876	Oligomenorrhea
OMIM:616155	IGHMBP2	3508	HP:0001265	Hyporeflexia
OMIM:616155	IGHMBP2	3508	HP:0009027	Foot dorsiflexor weakness
OMIM:616155	IGHMBP2	3508	HP:0040078	Axonal degeneration
OMIM:616155	IGHMBP2	3508	HP:0000007	Autosomal recessive inheritance
OMIM:616155	IGHMBP2	3508	HP:0003677	Slow progression
OMIM:616155	IGHMBP2	3508	HP:0002936	Distal sensory impairment
OMIM:616155	IGHMBP2	3508	HP:0003376	Steppage gait
OMIM:616155	IGHMBP2	3508	HP:0001284	Areflexia
OMIM:241850	FOXE1	2304	HP:0000007	Autosomal recessive inheritance
OMIM:241850	FOXE1	2304	HP:0008191	Thyroid agenesis
OMIM:241850	FOXE1	2304	HP:0000453	Choanal atresia
OMIM:241850	FOXE1	2304	HP:0001561	Polyhydramnios
OMIM:241850	FOXE1	2304	HP:0000175	Cleft palate
OMIM:241850	FOXE1	2304	HP:0010564	Bifid epiglottis
ORPHA:1520	EFNB1	1947	HP:0006101	Finger syndactyly
ORPHA:1520	EFNB1	1947	HP:0002007	Frontal bossing
ORPHA:1520	EFNB1	1947	HP:0001357	Plagiocephaly
ORPHA:1520	EFNB1	1947	HP:0000494	Downslanted palpebral fissures
ORPHA:1520	EFNB1	1947	HP:0000407	Sensorineural hearing impairment
ORPHA:1520	EFNB1	1947	HP:0001852	Sandal gap
ORPHA:1520	EFNB1	1947	HP:0004122	Midline defect of the nose
ORPHA:1520	EFNB1	1947	HP:0002224	Woolly hair
ORPHA:1520	EFNB1	1947	HP:0010059	Broad hallux phalanx
ORPHA:1520	EFNB1	1947	HP:0001249	Intellectual disability
ORPHA:1520	EFNB1	1947	HP:0001252	Muscular hypotonia
ORPHA:1520	EFNB1	1947	HP:0002650	Scoliosis
ORPHA:1520	EFNB1	1947	HP:0006585	Congenital pseudoarthrosis of the clavicle
ORPHA:1520	EFNB1	1947	HP:0000248	Brachycephaly
ORPHA:1520	EFNB1	1947	HP:0000316	Hypertelorism
ORPHA:1520	EFNB1	1947	HP:0200021	Down-sloping shoulders
ORPHA:1520	EFNB1	1947	HP:0002162	Low posterior hairline
ORPHA:1520	EFNB1	1947	HP:0001161	Hand polydactyly
ORPHA:1520	EFNB1	1947	HP:0000474	Thickened nuchal skin fold
ORPHA:1520	EFNB1	1947	HP:0100490	Camptodactyly of finger
ORPHA:1520	EFNB1	1947	HP:0000349	Widow's peak
ORPHA:1520	EFNB1	1947	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1520	EFNB1	1947	HP:0000202	Oral cleft
ORPHA:1520	EFNB1	1947	HP:0000912	Sprengel anomaly
ORPHA:1520	EFNB1	1947	HP:0008402	Ridged fingernail
ORPHA:1520	EFNB1	1947	HP:0000324	Facial asymmetry
ORPHA:1520	EFNB1	1947	HP:0001363	Craniosynostosis
ORPHA:1520	EFNB1	1947	HP:0000431	Wide nasal bridge
ORPHA:1520	EFNB1	1947	HP:0000252	Microcephaly
ORPHA:1520	EFNB1	1947	HP:0005692	Joint hyperflexibility
ORPHA:1520	EFNB1	1947	HP:0000457	Depressed nasal ridge
ORPHA:1520	EFNB1	1947	HP:0001156	Brachydactyly
ORPHA:1520	EFNB1	1947	HP:0000164	Abnormality of the dentition
ORPHA:1520	EFNB1	1947	HP:0000218	High palate
OMIM:608565	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614065	FLNC	2318	HP:0001324	Muscle weakness
OMIM:614065	FLNC	2318	HP:0003677	Slow progression
OMIM:614065	FLNC	2318	HP:0001430	Abnormality of the calf musculature
OMIM:614065	FLNC	2318	HP:0008944	Distal lower limb amyotrophy
OMIM:614065	FLNC	2318	HP:0000006	Autosomal dominant inheritance
OMIM:614065	FLNC	2318	HP:0007149	Distal upper limb amyotrophy
OMIM:614065	FLNC	2318	HP:0001265	Hyporeflexia
OMIM:614065	FLNC	2318	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:614065	FLNC	2318	HP:0003198	Myopathy
OMIM:614065	FLNC	2318	HP:0001638	Cardiomyopathy
OMIM:617111	MAPKAPK3	7867	HP:0000510	Rod-cone dystrophy
OMIM:617111	MAPKAPK3	7867	HP:0007663	Reduced visual acuity
OMIM:617111	MAPKAPK3	7867	HP:0000006	Autosomal dominant inheritance
ORPHA:306	SCN2A	6326	HP:0001252	Muscular hypotonia
ORPHA:306	SCN2A	6326	HP:0000490	Deeply set eye
ORPHA:306	SCN2A	6326	HP:0012534	Dysesthesia
ORPHA:306	SCN2A	6326	HP:0001266	Choreoathetosis
ORPHA:306	SCN2A	6326	HP:0001250	Seizures
ORPHA:306	SCN2A	6326	HP:0004372	Reduced consciousness/confusion
ORPHA:306	SCN2A	6326	HP:0001276	Hypertonia
ORPHA:306	SCN2A	6326	HP:0001336	Myoclonus
ORPHA:306	SCN2A	6326	HP:0100660	Dyskinesia
ORPHA:306	SCN2A	6326	HP:0000504	Abnormality of vision
ORPHA:306	KCNQ2	3785	HP:0001252	Muscular hypotonia
ORPHA:306	KCNQ2	3785	HP:0000490	Deeply set eye
ORPHA:306	KCNQ2	3785	HP:0012534	Dysesthesia
ORPHA:306	KCNQ2	3785	HP:0001266	Choreoathetosis
ORPHA:306	KCNQ2	3785	HP:0001250	Seizures
ORPHA:306	KCNQ2	3785	HP:0004372	Reduced consciousness/confusion
ORPHA:306	KCNQ2	3785	HP:0001276	Hypertonia
ORPHA:306	KCNQ2	3785	HP:0001336	Myoclonus
ORPHA:306	KCNQ2	3785	HP:0100660	Dyskinesia
ORPHA:306	KCNQ2	3785	HP:0000504	Abnormality of vision
ORPHA:306	KCNQ3	3786	HP:0001252	Muscular hypotonia
ORPHA:306	KCNQ3	3786	HP:0000490	Deeply set eye
ORPHA:306	KCNQ3	3786	HP:0012534	Dysesthesia
ORPHA:306	KCNQ3	3786	HP:0001266	Choreoathetosis
ORPHA:306	KCNQ3	3786	HP:0001250	Seizures
ORPHA:306	KCNQ3	3786	HP:0004372	Reduced consciousness/confusion
ORPHA:306	KCNQ3	3786	HP:0001276	Hypertonia
ORPHA:306	KCNQ3	3786	HP:0001336	Myoclonus
ORPHA:306	KCNQ3	3786	HP:0100660	Dyskinesia
ORPHA:306	KCNQ3	3786	HP:0000504	Abnormality of vision
ORPHA:306	PRRT2	112476	HP:0001252	Muscular hypotonia
ORPHA:306	PRRT2	112476	HP:0000490	Deeply set eye
ORPHA:306	PRRT2	112476	HP:0012534	Dysesthesia
ORPHA:306	PRRT2	112476	HP:0001266	Choreoathetosis
ORPHA:306	PRRT2	112476	HP:0001250	Seizures
ORPHA:306	PRRT2	112476	HP:0004372	Reduced consciousness/confusion
ORPHA:306	PRRT2	112476	HP:0001276	Hypertonia
ORPHA:306	PRRT2	112476	HP:0001336	Myoclonus
ORPHA:306	PRRT2	112476	HP:0100660	Dyskinesia
ORPHA:306	PRRT2	112476	HP:0000504	Abnormality of vision
ORPHA:306	SCN8A	6334	HP:0001252	Muscular hypotonia
ORPHA:306	SCN8A	6334	HP:0000490	Deeply set eye
ORPHA:306	SCN8A	6334	HP:0012534	Dysesthesia
ORPHA:306	SCN8A	6334	HP:0001266	Choreoathetosis
ORPHA:306	SCN8A	6334	HP:0001250	Seizures
ORPHA:306	SCN8A	6334	HP:0004372	Reduced consciousness/confusion
ORPHA:306	SCN8A	6334	HP:0001276	Hypertonia
ORPHA:306	SCN8A	6334	HP:0001336	Myoclonus
ORPHA:306	SCN8A	6334	HP:0100660	Dyskinesia
ORPHA:306	SCN8A	6334	HP:0000504	Abnormality of vision
OMIM:230450	GCLC	2729	HP:0001271	Polyneuropathy
OMIM:230450	GCLC	2729	HP:0000007	Autosomal recessive inheritance
OMIM:230450	GCLC	2729	HP:0003198	Myopathy
OMIM:230450	GCLC	2729	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:230450	GCLC	2729	HP:0006904	Late-onset spinocerebellar degeneration
OMIM:230450	GCLC	2729	HP:0001878	Hemolytic anemia
OMIM:616505	SLC25A46	91137	HP:0000648	Optic atrophy
OMIM:616505	SLC25A46	91137	HP:0001182	Tapered finger
OMIM:616505	SLC25A46	91137	HP:0000189	Narrow palate
OMIM:616505	SLC25A46	91137	HP:0002936	Distal sensory impairment
OMIM:616505	SLC25A46	91137	HP:0001263	Global developmental delay
OMIM:616505	SLC25A46	91137	HP:0003186	Inverted nipples
OMIM:616505	SLC25A46	91137	HP:0001265	Hyporeflexia
OMIM:616505	SLC25A46	91137	HP:0001371	Flexion contracture
OMIM:616505	SLC25A46	91137	HP:0010804	Tented upper lip vermilion
OMIM:616505	SLC25A46	91137	HP:0001761	Pes cavus
OMIM:616505	SLC25A46	91137	HP:0000341	Narrow forehead
OMIM:616505	SLC25A46	91137	HP:0000007	Autosomal recessive inheritance
OMIM:616505	SLC25A46	91137	HP:0000414	Bulbous nose
OMIM:616505	SLC25A46	91137	HP:0003828	Variable expressivity
OMIM:616505	SLC25A46	91137	HP:0000463	Anteverted nares
OMIM:616505	SLC25A46	91137	HP:0001290	Generalized hypotonia
OMIM:616505	SLC25A46	91137	HP:0000529	Progressive visual loss
OMIM:616505	SLC25A46	91137	HP:0001252	Muscular hypotonia
OMIM:616505	SLC25A46	91137	HP:0003376	Steppage gait
ORPHA:895	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
ORPHA:895	EDNRB	1910	HP:0001100	Heterochromia iridis
ORPHA:895	EDNRB	1910	HP:0001053	Hypopigmented skin patches
ORPHA:895	EDNRB	1910	HP:0002211	White forelock
ORPHA:895	EDNRB	1910	HP:0002216	Premature graying of hair
ORPHA:895	SOX10	6663	HP:0000407	Sensorineural hearing impairment
ORPHA:895	SOX10	6663	HP:0001100	Heterochromia iridis
ORPHA:895	SOX10	6663	HP:0001053	Hypopigmented skin patches
ORPHA:895	SOX10	6663	HP:0002211	White forelock
ORPHA:895	SOX10	6663	HP:0002216	Premature graying of hair
ORPHA:895	MITF	4286	HP:0000407	Sensorineural hearing impairment
ORPHA:895	MITF	4286	HP:0001100	Heterochromia iridis
ORPHA:895	MITF	4286	HP:0001053	Hypopigmented skin patches
ORPHA:895	MITF	4286	HP:0002211	White forelock
ORPHA:895	MITF	4286	HP:0002216	Premature graying of hair
ORPHA:895	KITLG	4254	HP:0000407	Sensorineural hearing impairment
ORPHA:895	KITLG	4254	HP:0001100	Heterochromia iridis
ORPHA:895	KITLG	4254	HP:0001053	Hypopigmented skin patches
ORPHA:895	KITLG	4254	HP:0002211	White forelock
ORPHA:895	KITLG	4254	HP:0002216	Premature graying of hair
ORPHA:895	SNAI2	6591	HP:0000407	Sensorineural hearing impairment
ORPHA:895	SNAI2	6591	HP:0001100	Heterochromia iridis
ORPHA:895	SNAI2	6591	HP:0001053	Hypopigmented skin patches
ORPHA:895	SNAI2	6591	HP:0002211	White forelock
ORPHA:895	SNAI2	6591	HP:0002216	Premature graying of hair
OMIM:226700	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMA3	3909	HP:0001522	Death in infancy
OMIM:226700	LAMA3	3909	HP:0008404	Nail dystrophy
OMIM:226700	LAMA3	3909	HP:0003577	Congenital onset
OMIM:226700	LAMA3	3909	HP:0001508	Failure to thrive
OMIM:226700	LAMA3	3909	HP:0002164	Nail dysplasia
OMIM:226700	LAMA3	3909	HP:0007383	Congenital localized absence of skin
OMIM:226700	LAMA3	3909	HP:0002021	Pyloric stenosis
OMIM:226700	LAMA3	3909	HP:0001075	Atrophic scars
OMIM:226700	LAMA3	3909	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMA3	3909	HP:0000670	Carious teeth
OMIM:226700	LAMA3	3909	HP:0001056	Milia
OMIM:226700	LAMA3	3909	HP:0003341	Junctional split
OMIM:226700	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMB3	3914	HP:0001522	Death in infancy
OMIM:226700	LAMB3	3914	HP:0008404	Nail dystrophy
OMIM:226700	LAMB3	3914	HP:0003577	Congenital onset
OMIM:226700	LAMB3	3914	HP:0001508	Failure to thrive
OMIM:226700	LAMB3	3914	HP:0002164	Nail dysplasia
OMIM:226700	LAMB3	3914	HP:0007383	Congenital localized absence of skin
OMIM:226700	LAMB3	3914	HP:0002021	Pyloric stenosis
OMIM:226700	LAMB3	3914	HP:0001075	Atrophic scars
OMIM:226700	LAMB3	3914	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMB3	3914	HP:0000670	Carious teeth
OMIM:226700	LAMB3	3914	HP:0001056	Milia
OMIM:226700	LAMB3	3914	HP:0003341	Junctional split
OMIM:226700	LAMC2	3918	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMC2	3918	HP:0001522	Death in infancy
OMIM:226700	LAMC2	3918	HP:0008404	Nail dystrophy
OMIM:226700	LAMC2	3918	HP:0003577	Congenital onset
OMIM:226700	LAMC2	3918	HP:0001508	Failure to thrive
OMIM:226700	LAMC2	3918	HP:0002164	Nail dysplasia
OMIM:226700	LAMC2	3918	HP:0007383	Congenital localized absence of skin
OMIM:226700	LAMC2	3918	HP:0002021	Pyloric stenosis
OMIM:226700	LAMC2	3918	HP:0001075	Atrophic scars
OMIM:226700	LAMC2	3918	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMC2	3918	HP:0000670	Carious teeth
OMIM:226700	LAMC2	3918	HP:0001056	Milia
OMIM:226700	LAMC2	3918	HP:0003341	Junctional split
ORPHA:851	FLI1	2313	HP:0001626	Abnormality of the cardiovascular system
ORPHA:851	FLI1	2313	HP:0001249	Intellectual disability
ORPHA:649	NDP	4693	HP:0007968	Remnants of the hyaloid vascular system
ORPHA:649	NDP	4693	HP:0000400	Macrotia
ORPHA:649	NDP	4693	HP:0000446	Narrow nasal bridge
ORPHA:649	NDP	4693	HP:0100012	Neoplasm of the eye
ORPHA:649	NDP	4693	HP:0000568	Microphthalmia
ORPHA:649	NDP	4693	HP:0000733	Stereotypy
ORPHA:649	NDP	4693	HP:0005293	Venous insufficiency
ORPHA:649	NDP	4693	HP:0000541	Retinal detachment
ORPHA:649	NDP	4693	HP:0000490	Deeply set eye
ORPHA:649	NDP	4693	HP:0000601	Hypotelorism
ORPHA:649	NDP	4693	HP:0000647	Sclerocornea
ORPHA:649	NDP	4693	HP:0000518	Cataract
ORPHA:649	NDP	4693	HP:0007676	Hypoplasia of the iris
ORPHA:649	NDP	4693	HP:0100639	Erectile abnormalities
ORPHA:649	NDP	4693	HP:0000739	Anxiety
ORPHA:649	NDP	4693	HP:0000709	Psychosis
ORPHA:649	NDP	4693	HP:0007833	Anterior chamber synechiae
ORPHA:649	NDP	4693	HP:0000618	Blindness
ORPHA:649	NDP	4693	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHA:649	NDP	4693	HP:0100742	Vascular neoplasm
ORPHA:649	NDP	4693	HP:0008046	Abnormality of the retinal vasculature
ORPHA:649	NDP	4693	HP:0000532	Chorioretinal abnormality
ORPHA:649	NDP	4693	HP:0000375	Abnormality of cochlea
ORPHA:649	NDP	4693	HP:0000737	Irritability
ORPHA:649	NDP	4693	HP:0000639	Nystagmus
ORPHA:649	NDP	4693	HP:0006887	Intellectual disability, progressive
OMIM:310300	EMD	2010	HP:0002515	Waddling gait
OMIM:310300	EMD	2010	HP:0003677	Slow progression
OMIM:310300	EMD	2010	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:310300	EMD	2010	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310300	EMD	2010	HP:0002987	Elbow flexion contracture
OMIM:310300	EMD	2010	HP:0011807	Type 1 muscle fiber atrophy
OMIM:310300	EMD	2010	HP:0011463	Childhood onset
OMIM:310300	EMD	2010	HP:0001678	Atrioventricular block
OMIM:310300	EMD	2010	HP:0001692	Primary atrial arrhythmia
OMIM:310300	EMD	2010	HP:0000767	Pectus excavatum
OMIM:310300	EMD	2010	HP:0001771	Achilles tendon contracture
OMIM:310300	EMD	2010	HP:0003621	Juvenile onset
OMIM:310300	EMD	2010	HP:0001645	Sudden cardiac death
OMIM:310300	EMD	2010	HP:0001419	X-linked recessive inheritance
OMIM:310300	EMD	2010	HP:0000464	Abnormality of the neck
OMIM:613988	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:613988	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:613988	WRAP53	55135	HP:0002860	Squamous cell carcinoma
OMIM:613988	WRAP53	55135	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:613988	WRAP53	55135	HP:0001876	Pancytopenia
OMIM:613988	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:613611	PTPN14	5784	HP:0000453	Choanal atresia
OMIM:613611	PTPN14	5784	HP:0001004	Lymphedema
OMIM:613611	PTPN14	5784	HP:0000218	High palate
OMIM:613611	PTPN14	5784	HP:0000007	Autosomal recessive inheritance
OMIM:613611	PTPN14	5784	HP:0001698	Pericardial effusion
OMIM:254780	NHLRC1	378884	HP:0001336	Myoclonus
OMIM:254780	NHLRC1	378884	HP:0000709	Psychosis
OMIM:254780	NHLRC1	378884	HP:0002186	Apraxia
OMIM:254780	NHLRC1	378884	HP:0000007	Autosomal recessive inheritance
OMIM:254780	NHLRC1	378884	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254780	NHLRC1	378884	HP:0002121	Absence seizures
OMIM:254780	NHLRC1	378884	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:254780	NHLRC1	378884	HP:0000992	Cutaneous photosensitivity
OMIM:254780	NHLRC1	378884	HP:0011165	Visual auras
OMIM:254780	NHLRC1	378884	HP:0000726	Dementia
OMIM:254780	NHLRC1	378884	HP:0001399	Hepatic failure
OMIM:254780	NHLRC1	378884	HP:0003678	Rapidly progressive
OMIM:254780	NHLRC1	378884	HP:0025121	Simple partial occipital seizures
OMIM:254780	NHLRC1	378884	HP:0001288	Gait disturbance
OMIM:254780	NHLRC1	378884	HP:0001425	Heterogeneous
OMIM:254780	NHLRC1	378884	HP:0002123	Generalized myoclonic seizures
OMIM:254780	NHLRC1	378884	HP:0002344	Progressive neurologic deterioration
OMIM:254780	NHLRC1	378884	HP:0000572	Visual loss
OMIM:254780	NHLRC1	378884	HP:0002367	Visual hallucinations
OMIM:254780	EPM2A	7957	HP:0001336	Myoclonus
OMIM:254780	EPM2A	7957	HP:0000709	Psychosis
OMIM:254780	EPM2A	7957	HP:0002186	Apraxia
OMIM:254780	EPM2A	7957	HP:0000007	Autosomal recessive inheritance
OMIM:254780	EPM2A	7957	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254780	EPM2A	7957	HP:0002121	Absence seizures
OMIM:254780	EPM2A	7957	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:254780	EPM2A	7957	HP:0000992	Cutaneous photosensitivity
OMIM:254780	EPM2A	7957	HP:0011165	Visual auras
OMIM:254780	EPM2A	7957	HP:0000726	Dementia
OMIM:254780	EPM2A	7957	HP:0001399	Hepatic failure
OMIM:254780	EPM2A	7957	HP:0003678	Rapidly progressive
OMIM:254780	EPM2A	7957	HP:0025121	Simple partial occipital seizures
OMIM:254780	EPM2A	7957	HP:0001288	Gait disturbance
OMIM:254780	EPM2A	7957	HP:0001425	Heterogeneous
OMIM:254780	EPM2A	7957	HP:0002123	Generalized myoclonic seizures
OMIM:254780	EPM2A	7957	HP:0002344	Progressive neurologic deterioration
OMIM:254780	EPM2A	7957	HP:0000572	Visual loss
OMIM:254780	EPM2A	7957	HP:0002367	Visual hallucinations
OMIM:612437	PRICKLE1	144165	HP:0000007	Autosomal recessive inheritance
OMIM:612437	PRICKLE1	144165	HP:0002123	Generalized myoclonic seizures
OMIM:612437	PRICKLE1	144165	HP:0010819	Atonic seizures
OMIM:612437	PRICKLE1	144165	HP:0001260	Dysarthria
OMIM:612437	PRICKLE1	144165	HP:0003487	Babinski sign
OMIM:612437	PRICKLE1	144165	HP:0001337	Tremor
OMIM:612437	PRICKLE1	144165	HP:0003390	Sensory axonal neuropathy
OMIM:612437	PRICKLE1	144165	HP:0003676	Progressive
OMIM:612437	PRICKLE1	144165	HP:0001310	Dysmetria
OMIM:605259	KCNC3	3748	HP:0002070	Limb ataxia
OMIM:605259	KCNC3	3748	HP:0008003	Jerky ocular pursuit movements
OMIM:605259	KCNC3	3748	HP:0001347	Hyperreflexia
OMIM:605259	KCNC3	3748	HP:0001249	Intellectual disability
OMIM:605259	KCNC3	3748	HP:0002073	Progressive cerebellar ataxia
OMIM:605259	KCNC3	3748	HP:0007256	Abnormal pyramidal signs
OMIM:605259	KCNC3	3748	HP:0000006	Autosomal dominant inheritance
OMIM:605259	KCNC3	3748	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:605259	KCNC3	3748	HP:0001290	Generalized hypotonia
OMIM:605259	KCNC3	3748	HP:0002066	Gait ataxia
OMIM:605259	KCNC3	3748	HP:0003677	Slow progression
OMIM:605259	KCNC3	3748	HP:0001260	Dysarthria
OMIM:605259	KCNC3	3748	HP:0002406	Limb dysmetria
OMIM:605259	KCNC3	3748	HP:0001270	Motor delay
OMIM:605259	KCNC3	3748	HP:0001272	Cerebellar atrophy
OMIM:605259	KCNC3	3748	HP:0000639	Nystagmus
OMIM:605259	KCNC3	3748	HP:0000648	Optic atrophy
OMIM:227810	SLC2A2	6514	HP:0004396	Poor appetite
OMIM:227810	SLC2A2	6514	HP:0003270	Abdominal distention
OMIM:227810	SLC2A2	6514	HP:0004915	Impairment of galactose metabolism
OMIM:227810	SLC2A2	6514	HP:0002749	Osteomalacia
OMIM:227810	SLC2A2	6514	HP:0002024	Malabsorption
OMIM:227810	SLC2A2	6514	HP:0002909	Generalized aminoaciduria
OMIM:227810	SLC2A2	6514	HP:0002148	Hypophosphatemia
OMIM:227810	SLC2A2	6514	HP:0000124	Renal tubular dysfunction
OMIM:227810	SLC2A2	6514	HP:0003109	Hyperphosphaturia
OMIM:227810	SLC2A2	6514	HP:0012468	Chronic acidosis
OMIM:227810	SLC2A2	6514	HP:0001263	Global developmental delay
OMIM:227810	SLC2A2	6514	HP:0000007	Autosomal recessive inheritance
OMIM:227810	SLC2A2	6514	HP:0001508	Failure to thrive
OMIM:227810	SLC2A2	6514	HP:0003537	Hypouricemia
OMIM:227810	SLC2A2	6514	HP:0003155	Elevated alkaline phosphatase
OMIM:227810	SLC2A2	6514	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:227810	SLC2A2	6514	HP:0003076	Glycosuria
OMIM:227810	SLC2A2	6514	HP:0002900	Hypokalemia
ORPHA:2169	MTRR	4552	HP:0002120	Cerebral cortical atrophy
ORPHA:2169	MTRR	4552	HP:0000762	Decreased nerve conduction velocity
ORPHA:2169	MTRR	4552	HP:0001252	Muscular hypotonia
ORPHA:2169	MTRR	4552	HP:0002093	Respiratory insufficiency
ORPHA:2169	MTRR	4552	HP:0001903	Anemia
ORPHA:2169	MTRR	4552	HP:0003223	Decreased methylcobalamin
ORPHA:2169	MTRR	4552	HP:0006887	Intellectual disability, progressive
ORPHA:2169	MTRR	4552	HP:0000639	Nystagmus
OMIM:102530	SPATA16	83893	HP:0000007	Autosomal recessive inheritance
OMIM:102530	SPATA16	83893	HP:0012205	Globozoospermia
OMIM:102530	SPATA16	83893	HP:0000789	Infertility
OMIM:616001	PTPRF	5792	HP:0000007	Autosomal recessive inheritance
OMIM:616001	PTPRF	5792	HP:0000319	Smooth philtrum
OMIM:616001	PTPRF	5792	HP:0000385	Small earlobe
OMIM:616001	PTPRF	5792	HP:0002561	Absent nipple
OMIM:616001	PTPRF	5792	HP:0000455	Broad nasal tip
OMIM:613077	RRM2B	50484	HP:0003750	Increased muscle fatiguability
OMIM:613077	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:613077	RRM2B	50484	HP:0000716	Depressivity
OMIM:613077	RRM2B	50484	HP:0000590	Progressive external ophthalmoplegia
OMIM:613077	RRM2B	50484	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:613077	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:613077	RRM2B	50484	HP:0001260	Dysarthria
ORPHA:391487	STAT1	6772	HP:0004944	Dilatation of the cerebral artery
ORPHA:391487	STAT1	6772	HP:0003207	Arterial calcification
ORPHA:391487	STAT1	6772	HP:0001433	Hepatosplenomegaly
ORPHA:391487	STAT1	6772	HP:0011473	Villous atrophy
ORPHA:391487	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
ORPHA:391487	STAT1	6772	HP:0002958	Immune dysregulation
ORPHA:391487	STAT1	6772	HP:0002750	Delayed skeletal maturation
ORPHA:391487	STAT1	6772	HP:0100651	Type I diabetes mellitus
ORPHA:391487	STAT1	6772	HP:0012163	Carotid artery dilatation
ORPHA:391487	STAT1	6772	HP:0001920	Renal artery stenosis
ORPHA:391487	STAT1	6772	HP:0000823	Delayed puberty
ORPHA:391487	STAT1	6772	HP:0040160	Generalized osteoporosis
ORPHA:391487	STAT1	6772	HP:0000938	Osteopenia
ORPHA:391487	STAT1	6772	HP:0010976	B lymphocytopenia
ORPHA:391487	STAT1	6772	HP:0100646	Thyroiditis
ORPHA:391487	STAT1	6772	HP:0000009	Functional abnormality of the bladder
ORPHA:391487	STAT1	6772	HP:0004322	Short stature
ORPHA:391487	STAT1	6772	HP:0002110	Bronchiectasis
ORPHA:391487	STAT1	6772	HP:0000964	Eczema
ORPHA:391487	STAT1	6772	HP:0000832	Primary hypothyroidism
ORPHA:391487	STAT1	6772	HP:0002788	Recurrent upper respiratory tract infections
ORPHA:391487	STAT1	6772	HP:0001890	Autoimmune hemolytic anemia
ORPHA:391487	STAT1	6772	HP:0005353	Susceptibility to herpesvirus
ORPHA:391487	STAT1	6772	HP:0004387	Enterocolitis
ORPHA:391487	STAT1	6772	HP:0100817	Renovascular hypertension
ORPHA:391487	STAT1	6772	HP:0002721	Immunodeficiency
ORPHA:391487	STAT1	6772	HP:0002014	Diarrhea
OMIM:606693	ATP13A2	23400	HP:0004409	Hyposmia
OMIM:606693	ATP13A2	23400	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
OMIM:606693	ATP13A2	23400	HP:0000718	Aggressive behavior
OMIM:606693	ATP13A2	23400	HP:0001336	Myoclonus
OMIM:606693	ATP13A2	23400	HP:0001251	Ataxia
OMIM:606693	ATP13A2	23400	HP:0002375	Hypokinesia
OMIM:606693	ATP13A2	23400	HP:0000605	Supranuclear gaze palsy
OMIM:606693	ATP13A2	23400	HP:0001288	Gait disturbance
OMIM:606693	ATP13A2	23400	HP:0001260	Dysarthria
OMIM:606693	ATP13A2	23400	HP:0002425	Anarthria
OMIM:606693	ATP13A2	23400	HP:0001347	Hyperreflexia
OMIM:606693	ATP13A2	23400	HP:0001300	Parkinsonism
OMIM:606693	ATP13A2	23400	HP:0002304	Akinesia
OMIM:606693	ATP13A2	23400	HP:0000473	Torticollis
OMIM:606693	ATP13A2	23400	HP:0001337	Tremor
OMIM:606693	ATP13A2	23400	HP:0000458	Anosmia
OMIM:606693	ATP13A2	23400	HP:0000738	Hallucinations
OMIM:606693	ATP13A2	23400	HP:0002063	Rigidity
OMIM:606693	ATP13A2	23400	HP:0003678	Rapidly progressive
OMIM:606693	ATP13A2	23400	HP:0000726	Dementia
OMIM:606693	ATP13A2	23400	HP:0000298	Mask-like facies
OMIM:606693	ATP13A2	23400	HP:0000725	Psychotic episodes
OMIM:606693	ATP13A2	23400	HP:0002385	Paraparesis
OMIM:606693	ATP13A2	23400	HP:0003487	Babinski sign
OMIM:606693	ATP13A2	23400	HP:0001258	Spastic paraplegia
OMIM:606693	ATP13A2	23400	HP:0002172	Postural instability
OMIM:606693	ATP13A2	23400	HP:0000514	Slow saccadic eye movements
OMIM:606693	ATP13A2	23400	HP:0000007	Autosomal recessive inheritance
OMIM:607829	DCHS1	8642	HP:0001653	Mitral regurgitation
OMIM:607829	DCHS1	8642	HP:0003831	Age-dependent penetrance
OMIM:607829	DCHS1	8642	HP:0001634	Mitral valve prolapse
OMIM:607829	DCHS1	8642	HP:0000006	Autosomal dominant inheritance
OMIM:612621	SYNGAP1	8831	HP:0002353	EEG abnormality
OMIM:612621	SYNGAP1	8831	HP:0000729	Autistic behavior
OMIM:612621	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:612621	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:612621	SYNGAP1	8831	HP:0001270	Motor delay
OMIM:612621	SYNGAP1	8831	HP:0002376	Developmental regression
OMIM:612621	SYNGAP1	8831	HP:0002463	Language impairment
OMIM:612621	SYNGAP1	8831	HP:0001252	Muscular hypotonia
OMIM:612621	SYNGAP1	8831	HP:0001290	Generalized hypotonia
OMIM:612621	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:612621	SYNGAP1	8831	HP:0001263	Global developmental delay
OMIM:615108	PIK3CA	5290	HP:0000218	High palate
OMIM:615108	PIK3CA	5290	HP:0000972	Palmoplantar hyperkeratosis
OMIM:615108	PIK3CA	5290	HP:0002808	Kyphosis
OMIM:615108	PIK3CA	5290	HP:0002858	Meningioma
OMIM:615108	PIK3CA	5290	HP:0006740	Transitional cell carcinoma of the bladder
OMIM:615108	PIK3CA	5290	HP:0002650	Scoliosis
OMIM:615108	PIK3CA	5290	HP:0003581	Adult onset
OMIM:615108	PIK3CA	5290	HP:0004390	Hamartomatous polyposis
OMIM:615108	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:615108	PIK3CA	5290	HP:0000365	Hearing impairment
OMIM:615108	PIK3CA	5290	HP:0000836	Hyperthyroidism
OMIM:615108	PIK3CA	5290	HP:0001250	Seizures
OMIM:615108	PIK3CA	5290	HP:0000518	Cataract
OMIM:615108	PIK3CA	5290	HP:0000821	Hypothyroidism
OMIM:615108	PIK3CA	5290	HP:0000221	Furrowed tongue
OMIM:615108	PIK3CA	5290	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	PIK3CA	5290	HP:0000160	Narrow mouth
OMIM:615108	PIK3CA	5290	HP:0000347	Micrognathia
OMIM:615108	PIK3CA	5290	HP:0000854	Thyroid adenoma
OMIM:615108	PIK3CA	5290	HP:0000771	Gynecomastia
OMIM:615108	PIK3CA	5290	HP:0010619	Fibroadenoma of the breast
OMIM:615108	PIK3CA	5290	HP:0002080	Intention tremor
OMIM:615108	PIK3CA	5290	HP:0000853	Goiter
OMIM:615108	PIK3CA	5290	HP:0000034	Hydrocele testis
OMIM:615108	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:615108	PIK3CA	5290	HP:0100646	Thyroiditis
OMIM:615108	PIK3CA	5290	HP:0010609	Skin tags
OMIM:615108	PIK3CA	5290	HP:0001031	Subcutaneous lipoma
OMIM:615108	PIK3CA	5290	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	PIK3CA	5290	HP:0000545	Myopia
OMIM:615108	PIK3CA	5290	HP:0000138	Ovarian cyst
OMIM:615108	PIK3CA	5290	HP:0001102	Angioid streaks of the retina
OMIM:615108	PIK3CA	5290	HP:0000767	Pectus excavatum
OMIM:615108	PIK3CA	5290	HP:0002253	Colonic diverticula
OMIM:615108	PIK3CA	5290	HP:0012871	Varicocele
OMIM:615108	PIK3CA	5290	HP:0004481	Progressive macrocephaly
ORPHA:140952	CCNQ	92002	HP:0004209	Clinodactyly of the 5th finger
ORPHA:140952	CCNQ	92002	HP:0008665	Clitoral hypertrophy
ORPHA:140952	CCNQ	92002	HP:0000083	Renal insufficiency
ORPHA:140952	CCNQ	92002	HP:0004322	Short stature
ORPHA:140952	CCNQ	92002	HP:0000813	Bicornuate uterus
ORPHA:140952	CCNQ	92002	HP:0000086	Ectopic kidney
ORPHA:140952	CCNQ	92002	HP:0000085	Horseshoe kidney
ORPHA:140952	CCNQ	92002	HP:0000431	Wide nasal bridge
ORPHA:140952	CCNQ	92002	HP:0002023	Anal atresia
ORPHA:140952	CCNQ	92002	HP:0000104	Renal agenesis
ORPHA:140952	CCNQ	92002	HP:0000076	Vesicoureteral reflux
ORPHA:140952	CCNQ	92002	HP:0000414	Bulbous nose
ORPHA:140952	CCNQ	92002	HP:0001671	Abnormality of the cardiac septa
ORPHA:140952	CCNQ	92002	HP:0001770	Toe syndactyly
ORPHA:140952	CCNQ	92002	HP:0000219	Thin upper lip vermilion
ORPHA:140952	CCNQ	92002	HP:0000506	Telecanthus
ORPHA:140952	CCNQ	92002	HP:0000066	Labial hypoplasia
ORPHA:140952	CCNQ	92002	HP:0000394	Lop ear
OMIM:615550	RPL15	6138	HP:0001629	Ventricular septal defect
OMIM:615550	RPL15	6138	HP:0001895	Normochromic anemia
OMIM:615550	RPL15	6138	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL15	6138	HP:0030270	Elevated red cell adenosine deaminase activity
OMIM:615550	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:615550	RPL15	6138	HP:0001972	Macrocytic anemia
ORPHA:59303	CLDN1	9076	HP:0002240	Hepatomegaly
ORPHA:59303	CLDN1	9076	HP:0000653	Sparse eyelashes
ORPHA:59303	CLDN1	9076	HP:0004552	Scarring alopecia of scalp
ORPHA:59303	CLDN1	9076	HP:0000535	Sparse and thin eyebrow
ORPHA:59303	CLDN1	9076	HP:0001744	Splenomegaly
ORPHA:59303	CLDN1	9076	HP:0004782	Hypotrichosis of the scalp
ORPHA:59303	CLDN1	9076	HP:0000952	Jaundice
ORPHA:59303	CLDN1	9076	HP:0002231	Sparse body hair
ORPHA:59303	CLDN1	9076	HP:0008064	Ichthyosis
OMIM:278740	DDB2	1643	HP:0001009	Telangiectasia
OMIM:278740	DDB2	1643	HP:0000509	Conjunctivitis
OMIM:278740	DDB2	1643	HP:0000613	Photophobia
OMIM:278740	DDB2	1643	HP:0000007	Autosomal recessive inheritance
OMIM:278740	DDB2	1643	HP:0002861	Melanoma
OMIM:278740	DDB2	1643	HP:0000491	Keratitis
OMIM:278740	DDB2	1643	HP:0000621	Entropion
OMIM:278740	DDB2	1643	HP:0000992	Cutaneous photosensitivity
OMIM:278740	DDB2	1643	HP:0002671	Basal cell carcinoma
OMIM:278740	DDB2	1643	HP:0000656	Ectropion
OMIM:278740	DDB2	1643	HP:0006739	Squamous cell carcinoma of the skin
OMIM:278740	DDB2	1643	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278740	DDB2	1643	HP:0004334	Dermal atrophy
OMIM:278740	DDB2	1643	HP:0001029	Poikiloderma
OMIM:606595	HSPB1	3315	HP:0009027	Foot dorsiflexor weakness
OMIM:606595	HSPB1	3315	HP:0001761	Pes cavus
OMIM:606595	HSPB1	3315	HP:0001265	Hyporeflexia
OMIM:606595	HSPB1	3315	HP:0003394	Muscle cramps
OMIM:606595	HSPB1	3315	HP:0001284	Areflexia
OMIM:606595	HSPB1	3315	HP:0002380	Fasciculations
OMIM:606595	HSPB1	3315	HP:0001171	Split hand
OMIM:606595	HSPB1	3315	HP:0003376	Steppage gait
OMIM:606595	HSPB1	3315	HP:0007267	Chronic axonal neuropathy
OMIM:606595	HSPB1	3315	HP:0002460	Distal muscle weakness
OMIM:606595	HSPB1	3315	HP:0003693	Distal amyotrophy
OMIM:606595	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:606595	HSPB1	3315	HP:0002936	Distal sensory impairment
OMIM:606595	HSPB1	3315	HP:0001425	Heterogeneous
OMIM:606595	HSPB1	3315	HP:0001178	Ulnar claw
OMIM:606595	HSPB1	3315	HP:0003431	Decreased motor nerve conduction velocity
OMIM:615515	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	ERBB4	2066	HP:0006957	Loss of ability to walk
OMIM:615515	ERBB4	2066	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:615515	ERBB4	2066	HP:0003581	Adult onset
ORPHA:89842	COL7A1	1294	HP:0001030	Fragile skin
ORPHA:89842	COL7A1	1294	HP:0002043	Esophageal stricture
ORPHA:89842	COL7A1	1294	HP:0200037	Skin vesicle
ORPHA:89842	COL7A1	1294	HP:0002019	Constipation
ORPHA:89842	COL7A1	1294	HP:0000670	Carious teeth
ORPHA:89842	COL7A1	1294	HP:0010296	Ankyloglossia
ORPHA:89842	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:89842	COL7A1	1294	HP:0001056	Milia
ORPHA:89842	COL7A1	1294	HP:0004378	Abnormality of the anus
ORPHA:89842	COL7A1	1294	HP:0002860	Squamous cell carcinoma
ORPHA:89842	COL7A1	1294	HP:0001057	Aplasia cutis congenita
ORPHA:89842	COL7A1	1294	HP:0200097	Oral mucosal blisters
ORPHA:89842	COL7A1	1294	HP:0000160	Narrow mouth
ORPHA:89842	COL7A1	1294	HP:0002015	Dysphagia
ORPHA:89842	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:108600	VAMP1	6843	HP:0001332	Dystonia
OMIM:108600	VAMP1	6843	HP:0001761	Pes cavus
OMIM:108600	VAMP1	6843	HP:0002015	Dysphagia
OMIM:108600	VAMP1	6843	HP:0001347	Hyperreflexia
OMIM:108600	VAMP1	6843	HP:0002354	Memory impairment
OMIM:108600	VAMP1	6843	HP:0001258	Spastic paraplegia
OMIM:108600	VAMP1	6843	HP:0008969	Leg muscle stiffness
OMIM:108600	VAMP1	6843	HP:0001260	Dysarthria
OMIM:108600	VAMP1	6843	HP:0003828	Variable expressivity
OMIM:108600	VAMP1	6843	HP:0000514	Slow saccadic eye movements
OMIM:108600	VAMP1	6843	HP:0001288	Gait disturbance
OMIM:108600	VAMP1	6843	HP:0000508	Ptosis
OMIM:108600	VAMP1	6843	HP:0002497	Spastic ataxia
OMIM:108600	VAMP1	6843	HP:0000605	Supranuclear gaze palsy
OMIM:108600	VAMP1	6843	HP:0000006	Autosomal dominant inheritance
OMIM:615271	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:302960	EBP	10682	HP:0001305	Dandy-Walker malformation
OMIM:302960	EBP	10682	HP:0000377	Abnormality of the pinna
OMIM:302960	EBP	10682	HP:0001019	Erythroderma
OMIM:302960	EBP	10682	HP:0012368	Flat face
OMIM:302960	EBP	10682	HP:0002650	Scoliosis
OMIM:302960	EBP	10682	HP:0003465	Elevated 8(9)-cholestenol
OMIM:302960	EBP	10682	HP:0002342	Intellectual disability, moderate
OMIM:302960	EBP	10682	HP:0100556	Hemiatrophy
OMIM:302960	EBP	10682	HP:0000969	Edema
OMIM:302960	EBP	10682	HP:0000126	Hydronephrosis
OMIM:302960	EBP	10682	HP:0002937	Hemivertebrae
OMIM:302960	EBP	10682	HP:0011120	Concave nasal ridge
OMIM:302960	EBP	10682	HP:0000639	Nystagmus
OMIM:302960	EBP	10682	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:302960	EBP	10682	HP:0003462	Elevated 8-dehydrocholesterol
OMIM:302960	EBP	10682	HP:0002999	Patellar dislocation
OMIM:302960	EBP	10682	HP:0002007	Frontal bossing
OMIM:302960	EBP	10682	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:302960	EBP	10682	HP:0000568	Microphthalmia
OMIM:302960	EBP	10682	HP:0010655	Epiphyseal stippling
OMIM:302960	EBP	10682	HP:0000272	Malar flattening
OMIM:302960	EBP	10682	HP:0000518	Cataract
OMIM:302960	EBP	10682	HP:0000494	Downslanted palpebral fissures
OMIM:302960	EBP	10682	HP:0001561	Polyhydramnios
OMIM:302960	EBP	10682	HP:0004241	Stippled calcification in carpal bones
OMIM:302960	EBP	10682	HP:0000653	Sparse eyelashes
OMIM:302960	EBP	10682	HP:0001776	Bilateral talipes equinovarus
OMIM:302960	EBP	10682	HP:0008131	Tarsal stippling
OMIM:302960	EBP	10682	HP:0001508	Failure to thrive
OMIM:302960	EBP	10682	HP:0003828	Variable expressivity
OMIM:302960	EBP	10682	HP:0003577	Congenital onset
OMIM:302960	EBP	10682	HP:0000470	Short neck
OMIM:302960	EBP	10682	HP:0002777	Tracheal stenosis
OMIM:302960	EBP	10682	HP:0000501	Glaucoma
OMIM:302960	EBP	10682	HP:0000535	Sparse and thin eyebrow
OMIM:302960	EBP	10682	HP:0002787	Tracheal calcification
OMIM:302960	EBP	10682	HP:0000365	Hearing impairment
OMIM:302960	EBP	10682	HP:0008897	Postnatal growth retardation
OMIM:302960	EBP	10682	HP:0001596	Alopecia
OMIM:302960	EBP	10682	HP:0001423	X-linked dominant inheritance
OMIM:302960	EBP	10682	HP:0000765	Abnormality of the thorax
OMIM:302960	EBP	10682	HP:0008420	Punctate vertebral calcifications
OMIM:600363	NIPA1	123606	HP:0007340	Lower limb muscle weakness
OMIM:600363	NIPA1	123606	HP:0002061	Lower limb spasticity
OMIM:600363	NIPA1	123606	HP:0000020	Urinary incontinence
OMIM:600363	NIPA1	123606	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:600363	NIPA1	123606	HP:0003676	Progressive
OMIM:600363	NIPA1	123606	HP:0001250	Seizures
OMIM:600363	NIPA1	123606	HP:0000006	Autosomal dominant inheritance
OMIM:600363	NIPA1	123606	HP:0003587	Insidious onset
OMIM:600363	NIPA1	123606	HP:0001761	Pes cavus
OMIM:600363	NIPA1	123606	HP:0003828	Variable expressivity
OMIM:600363	NIPA1	123606	HP:0002064	Spastic gait
OMIM:600363	NIPA1	123606	HP:0001258	Spastic paraplegia
OMIM:600363	NIPA1	123606	HP:0000012	Urinary urgency
OMIM:600363	NIPA1	123606	HP:0002169	Clonus
OMIM:600363	NIPA1	123606	HP:0003487	Babinski sign
OMIM:600363	NIPA1	123606	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:600363	NIPA1	123606	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:610618	F12	2161	HP:0005225	Intestinal edema
OMIM:610618	F12	2161	HP:0011855	Pharyngeal edema
OMIM:610618	F12	2161	HP:0012271	Episodic upper airway obstruction
OMIM:610618	F12	2161	HP:0002574	Episodic abdominal pain
OMIM:610618	F12	2161	HP:0002013	Vomiting
OMIM:610618	F12	2161	HP:0100665	Angioedema
OMIM:610618	F12	2161	HP:0000282	Facial edema
OMIM:610618	F12	2161	HP:0000006	Autosomal dominant inheritance
OMIM:616625	HARS	3035	HP:0003376	Steppage gait
OMIM:616625	HARS	3035	HP:0003438	Absent Achilles reflex
OMIM:616625	HARS	3035	HP:0001765	Hammertoe
OMIM:616625	HARS	3035	HP:0003828	Variable expressivity
OMIM:616625	HARS	3035	HP:0000006	Autosomal dominant inheritance
OMIM:616625	HARS	3035	HP:0002936	Distal sensory impairment
OMIM:616625	HARS	3035	HP:0001761	Pes cavus
OMIM:613582	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613582	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PDE6G	5148	HP:0011505	Cystoid macular edema
OMIM:613582	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:611771	APOE	348	HP:0100820	Glomerulopathy
OMIM:611771	APOE	348	HP:0012574	Mesangial hypercellularity
OMIM:611771	APOE	348	HP:0000093	Proteinuria
OMIM:611771	APOE	348	HP:0000083	Renal insufficiency
ORPHA:163634	IDH1	3417	HP:0002653	Bone pain
ORPHA:163634	IDH1	3417	HP:0007461	Hemangiomatosis
ORPHA:163634	IDH1	3417	HP:0002650	Scoliosis
ORPHA:163634	IDH1	3417	HP:0100777	Exostoses
ORPHA:163634	IDH1	3417	HP:0001482	Subcutaneous nodule
ORPHA:163634	IDH1	3417	HP:0004322	Short stature
ORPHA:163634	IDH1	3417	HP:0002797	Osteolysis
ORPHA:163634	IDH1	3417	HP:0004936	Venous thrombosis
ORPHA:163634	IDH1	3417	HP:0005701	Multiple enchondromatosis
ORPHA:163634	IDH2	3418	HP:0002653	Bone pain
ORPHA:163634	IDH2	3418	HP:0007461	Hemangiomatosis
ORPHA:163634	IDH2	3418	HP:0002650	Scoliosis
ORPHA:163634	IDH2	3418	HP:0100777	Exostoses
ORPHA:163634	IDH2	3418	HP:0001482	Subcutaneous nodule
ORPHA:163634	IDH2	3418	HP:0004322	Short stature
ORPHA:163634	IDH2	3418	HP:0002797	Osteolysis
ORPHA:163634	IDH2	3418	HP:0004936	Venous thrombosis
ORPHA:163634	IDH2	3418	HP:0005701	Multiple enchondromatosis
ORPHA:293168	ALS2	57679	HP:0002445	Tetraplegia
ORPHA:293168	ALS2	57679	HP:0000496	Abnormality of eye movement
ORPHA:293168	ALS2	57679	HP:0002510	Spastic tetraplegia
ORPHA:293168	ALS2	57679	HP:0001260	Dysarthria
ORPHA:293168	ALS2	57679	HP:0005216	Chewing difficulties
ORPHA:293168	ALS2	57679	HP:0001258	Spastic paraplegia
ORPHA:293168	ALS2	57679	HP:0001347	Hyperreflexia
ORPHA:293168	ALS2	57679	HP:0002425	Anarthria
ORPHA:293168	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:293168	ALS2	57679	HP:0007256	Abnormal pyramidal signs
OMIM:616540	LMNB2	84823	HP:0000007	Autosomal recessive inheritance
OMIM:616540	LMNB2	84823	HP:0003676	Progressive
OMIM:616540	LMNB2	84823	HP:0000171	Microglossia
OMIM:616540	LMNB2	84823	HP:0002650	Scoliosis
OMIM:616540	LMNB2	84823	HP:0003700	Generalized amyotrophy
OMIM:616540	LMNB2	84823	HP:0002133	Status epilepticus
OMIM:616540	LMNB2	84823	HP:0002066	Gait ataxia
OMIM:616540	LMNB2	84823	HP:0002119	Ventriculomegaly
OMIM:616540	LMNB2	84823	HP:0001263	Global developmental delay
OMIM:616540	LMNB2	84823	HP:0001336	Myoclonus
OMIM:616540	LMNB2	84823	HP:0009778	Short thumb
OMIM:604367	PPP1R3A	5506	HP:0000876	Oligomenorrhea
OMIM:604367	PPP1R3A	5506	HP:0001015	Prominent superficial veins
OMIM:604367	PPP1R3A	5506	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:604367	PPP1R3A	5506	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:604367	PPP1R3A	5506	HP:0000842	Hyperinsulinemia
OMIM:604367	PPP1R3A	5506	HP:0009125	Lipodystrophy
OMIM:604367	PPP1R3A	5506	HP:0002155	Hypertriglyceridemia
OMIM:604367	PPP1R3A	5506	HP:0000822	Hypertension
OMIM:604367	PPP1R3A	5506	HP:0000464	Abnormality of the neck
OMIM:604367	PPP1R3A	5506	HP:0001394	Cirrhosis
OMIM:604367	PPP1R3A	5506	HP:0003011	Abnormality of the musculature
OMIM:604367	PPP1R3A	5506	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:604367	PPP1R3A	5506	HP:0000956	Acanthosis nigricans
OMIM:604367	PPP1R3A	5506	HP:0002149	Hyperuricemia
OMIM:604367	PPP1R3A	5506	HP:0009800	Maternal diabetes
OMIM:604367	PPP1R3A	5506	HP:0000006	Autosomal dominant inheritance
OMIM:604367	PPP1R3A	5506	HP:0003074	Hyperglycemia
OMIM:604367	PPP1R3A	5506	HP:0001397	Hepatic steatosis
OMIM:604367	PPP1R3A	5506	HP:0001007	Hirsutism
OMIM:604367	PPP1R3A	5506	HP:0000271	Abnormality of the face
OMIM:604367	PPP1R3A	5506	HP:0000786	Primary amenorrhea
OMIM:604367	PPP1R3A	5506	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:604367	PPP1R3A	5506	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:604367	PPP1R3A	5506	HP:0100602	Preeclampsia
OMIM:604367	PPARG	5468	HP:0000876	Oligomenorrhea
OMIM:604367	PPARG	5468	HP:0001015	Prominent superficial veins
OMIM:604367	PPARG	5468	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:604367	PPARG	5468	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:604367	PPARG	5468	HP:0000842	Hyperinsulinemia
OMIM:604367	PPARG	5468	HP:0009125	Lipodystrophy
OMIM:604367	PPARG	5468	HP:0002155	Hypertriglyceridemia
OMIM:604367	PPARG	5468	HP:0000822	Hypertension
OMIM:604367	PPARG	5468	HP:0000464	Abnormality of the neck
OMIM:604367	PPARG	5468	HP:0001394	Cirrhosis
OMIM:604367	PPARG	5468	HP:0003011	Abnormality of the musculature
OMIM:604367	PPARG	5468	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:604367	PPARG	5468	HP:0000956	Acanthosis nigricans
OMIM:604367	PPARG	5468	HP:0002149	Hyperuricemia
OMIM:604367	PPARG	5468	HP:0009800	Maternal diabetes
OMIM:604367	PPARG	5468	HP:0000006	Autosomal dominant inheritance
OMIM:604367	PPARG	5468	HP:0003074	Hyperglycemia
OMIM:604367	PPARG	5468	HP:0001397	Hepatic steatosis
OMIM:604367	PPARG	5468	HP:0001007	Hirsutism
OMIM:604367	PPARG	5468	HP:0000271	Abnormality of the face
OMIM:604367	PPARG	5468	HP:0000786	Primary amenorrhea
OMIM:604367	PPARG	5468	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:604367	PPARG	5468	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:604367	PPARG	5468	HP:0100602	Preeclampsia
OMIM:616981	FRRS1L	23732	HP:0001290	Generalized hypotonia
OMIM:616981	FRRS1L	23732	HP:0001288	Gait disturbance
OMIM:616981	FRRS1L	23732	HP:0002376	Developmental regression
OMIM:616981	FRRS1L	23732	HP:0200134	Epileptic encephalopathy
OMIM:616981	FRRS1L	23732	HP:0001336	Myoclonus
OMIM:616981	FRRS1L	23732	HP:0001272	Cerebellar atrophy
OMIM:616981	FRRS1L	23732	HP:0001266	Choreoathetosis
OMIM:616981	FRRS1L	23732	HP:0000007	Autosomal recessive inheritance
OMIM:616981	FRRS1L	23732	HP:0002063	Rigidity
OMIM:616981	FRRS1L	23732	HP:0001263	Global developmental delay
OMIM:616981	FRRS1L	23732	HP:0001344	Absent speech
OMIM:616981	FRRS1L	23732	HP:0001249	Intellectual disability
OMIM:616981	FRRS1L	23732	HP:0001257	Spasticity
OMIM:616981	FRRS1L	23732	HP:0002059	Cerebral atrophy
OMIM:116920	ITGB2	3689	HP:0000704	Periodontitis
OMIM:116920	ITGB2	3689	HP:0005224	Rectal abscess
OMIM:116920	ITGB2	3689	HP:0005420	Recurrent gram-negative bacterial infections
OMIM:116920	ITGB2	3689	HP:0001974	Leukocytosis
OMIM:116920	ITGB2	3689	HP:0007499	Recurrent staphylococcal infections
OMIM:116920	ITGB2	3689	HP:0000007	Autosomal recessive inheritance
OMIM:116920	ITGB2	3689	HP:0000230	Gingivitis
OMIM:606719	CDKN2A	1029	HP:0012182	Oropharyngeal squamous cell carcinoma
OMIM:606719	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:606719	CDKN2A	1029	HP:0002861	Melanoma
OMIM:606719	CDKN2A	1029	HP:0100242	Sarcoma
OMIM:606719	CDKN2A	1029	HP:0002860	Squamous cell carcinoma
OMIM:606719	CDKN2A	1029	HP:0006725	Pancreatic adenocarcinoma
OMIM:606719	CDKN2A	1029	HP:0012142	Pancreatic squamous cell carcinoma
ORPHA:2202	GJB2	2706	HP:0000407	Sensorineural hearing impairment
ORPHA:2202	GJB2	2706	HP:0000982	Palmoplantar keratoderma
ORPHA:2202	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
ORPHA:2202	TRNS1	4574	HP:0000982	Palmoplantar keratoderma
OMIM:116200	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:116200	GJA8	2703	HP:0000519	Congenital cataract
OMIM:116200	GJA8	2703	HP:0007787	Posterior subcapsular cataract
OMIM:116200	GJA8	2703	HP:0100018	Nuclear cataract
OMIM:116200	GJA8	2703	HP:0010693	Pulverulent cataract
OMIM:253601	DYSF	8291	HP:0003555	Muscle fiber splitting
OMIM:253601	DYSF	8291	HP:0003458	EMG: myopathic abnormalities
OMIM:253601	DYSF	8291	HP:0003701	Proximal muscle weakness
OMIM:253601	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:253601	DYSF	8291	HP:0003551	Difficulty climbing stairs
OMIM:253601	DYSF	8291	HP:0003557	Increased variability in muscle fiber diameter
OMIM:253601	DYSF	8291	HP:0003677	Slow progression
OMIM:253601	DYSF	8291	HP:0009025	Increased connective tissue
OMIM:253601	DYSF	8291	HP:0003560	Muscular dystrophy
OMIM:253601	DYSF	8291	HP:0009046	Difficulty running
OMIM:253601	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614474	GATA6	2627	HP:0006695	Atrioventricular canal defect
OMIM:614474	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:614474	GATA6	2627	HP:0011623	Muscular ventricular septal defect
ORPHA:477	GJB2	2706	HP:0000491	Keratitis
ORPHA:477	GJB2	2706	HP:0001810	Dystrophic toenail
ORPHA:477	GJB2	2706	HP:0000221	Furrowed tongue
ORPHA:477	GJB2	2706	HP:0001596	Alopecia
ORPHA:477	GJB2	2706	HP:0005406	Recurrent bacterial skin infections
ORPHA:477	GJB2	2706	HP:0008391	Dystrophic fingernails
ORPHA:477	GJB2	2706	HP:0010783	Erythema
ORPHA:477	GJB2	2706	HP:0000499	Abnormality of the eyelashes
ORPHA:477	GJB2	2706	HP:0000613	Photophobia
ORPHA:477	GJB2	2706	HP:0008064	Ichthyosis
ORPHA:477	GJB2	2706	HP:0000505	Visual impairment
ORPHA:477	GJB2	2706	HP:0005595	Generalized hyperkeratosis
ORPHA:477	GJB2	2706	HP:0008070	Sparse hair
ORPHA:477	GJB2	2706	HP:0012733	Macule
ORPHA:477	GJB2	2706	HP:0002797	Osteolysis
ORPHA:477	GJB2	2706	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:477	GJB2	2706	HP:0000407	Sensorineural hearing impairment
ORPHA:477	GJB2	2706	HP:0000982	Palmoplantar keratoderma
ORPHA:477	GJB2	2706	HP:0200042	Skin ulcer
ORPHA:477	GJB2	2706	HP:0002213	Fine hair
ORPHA:477	GJB2	2706	HP:0002745	Oral leukoplakia
ORPHA:477	GJB2	2706	HP:0001804	Hypoplastic fingernail
ORPHA:477	GJB2	2706	HP:0000966	Hypohidrosis
ORPHA:477	GJB2	2706	HP:0001800	Hypoplastic toenails
ORPHA:477	GJB2	2706	HP:0011496	Corneal neovascularization
ORPHA:477	GJB6	10804	HP:0000491	Keratitis
ORPHA:477	GJB6	10804	HP:0001810	Dystrophic toenail
ORPHA:477	GJB6	10804	HP:0000221	Furrowed tongue
ORPHA:477	GJB6	10804	HP:0001596	Alopecia
ORPHA:477	GJB6	10804	HP:0005406	Recurrent bacterial skin infections
ORPHA:477	GJB6	10804	HP:0008391	Dystrophic fingernails
ORPHA:477	GJB6	10804	HP:0010783	Erythema
ORPHA:477	GJB6	10804	HP:0000499	Abnormality of the eyelashes
ORPHA:477	GJB6	10804	HP:0000613	Photophobia
ORPHA:477	GJB6	10804	HP:0008064	Ichthyosis
ORPHA:477	GJB6	10804	HP:0000505	Visual impairment
ORPHA:477	GJB6	10804	HP:0005595	Generalized hyperkeratosis
ORPHA:477	GJB6	10804	HP:0008070	Sparse hair
ORPHA:477	GJB6	10804	HP:0012733	Macule
ORPHA:477	GJB6	10804	HP:0002797	Osteolysis
ORPHA:477	GJB6	10804	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:477	GJB6	10804	HP:0000407	Sensorineural hearing impairment
ORPHA:477	GJB6	10804	HP:0000982	Palmoplantar keratoderma
ORPHA:477	GJB6	10804	HP:0200042	Skin ulcer
ORPHA:477	GJB6	10804	HP:0002213	Fine hair
ORPHA:477	GJB6	10804	HP:0002745	Oral leukoplakia
ORPHA:477	GJB6	10804	HP:0001804	Hypoplastic fingernail
ORPHA:477	GJB6	10804	HP:0000966	Hypohidrosis
ORPHA:477	GJB6	10804	HP:0001800	Hypoplastic toenails
ORPHA:477	GJB6	10804	HP:0011496	Corneal neovascularization
OMIM:262850	SERPINF2	5345	HP:0000007	Autosomal recessive inheritance
OMIM:262850	SERPINF2	5345	HP:0005261	Joint hemorrhage
OMIM:262850	SERPINF2	5345	HP:0000978	Bruising susceptibility
OMIM:262850	SERPINF2	5345	HP:0001934	Persistent bleeding after trauma
OMIM:262850	SERPINF2	5345	HP:0012151	Hemothorax
OMIM:617082	NUS1	116150	HP:0003577	Congenital onset
OMIM:617082	NUS1	116150	HP:0000007	Autosomal recessive inheritance
OMIM:617082	NUS1	116150	HP:0000998	Hypertrichosis
OMIM:617082	NUS1	116150	HP:0001511	Intrauterine growth retardation
OMIM:617082	NUS1	116150	HP:0002133	Status epilepticus
OMIM:617082	NUS1	116150	HP:0001257	Spasticity
OMIM:617082	NUS1	116150	HP:0001508	Failure to thrive
OMIM:617082	NUS1	116150	HP:0001290	Generalized hypotonia
OMIM:617082	NUS1	116150	HP:0002650	Scoliosis
OMIM:617082	NUS1	116150	HP:0000252	Microcephaly
OMIM:617082	NUS1	116150	HP:0000365	Hearing impairment
OMIM:617082	NUS1	116150	HP:0001263	Global developmental delay
OMIM:617082	NUS1	116150	HP:0002120	Cerebral cortical atrophy
OMIM:617082	NUS1	116150	HP:0000505	Visual impairment
OMIM:617432	TAF13	6884	HP:0002750	Delayed skeletal maturation
OMIM:617432	TAF13	6884	HP:0000007	Autosomal recessive inheritance
OMIM:617432	TAF13	6884	HP:0004322	Short stature
OMIM:617432	TAF13	6884	HP:0001518	Small for gestational age
OMIM:617432	TAF13	6884	HP:0000252	Microcephaly
OMIM:617432	TAF13	6884	HP:0000823	Delayed puberty
OMIM:617432	TAF13	6884	HP:0003828	Variable expressivity
OMIM:617432	TAF13	6884	HP:0001256	Intellectual disability, mild
OMIM:617432	TAF13	6884	HP:0001263	Global developmental delay
OMIM:604717	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:604717	ACTG1	71	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	ACTG1	71	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	ACTG1	71	HP:0011462	Young adult onset
OMIM:606056	MOGS	7841	HP:0000445	Wide nose
OMIM:606056	MOGS	7841	HP:0002757	Recurrent fractures
OMIM:606056	MOGS	7841	HP:0003577	Congenital onset
OMIM:606056	MOGS	7841	HP:0000007	Autosomal recessive inheritance
OMIM:606056	MOGS	7841	HP:0001188	Hand clenching
OMIM:606056	MOGS	7841	HP:0001290	Generalized hypotonia
OMIM:606056	MOGS	7841	HP:0001250	Seizures
OMIM:606056	MOGS	7841	HP:0002943	Thoracic scoliosis
OMIM:606056	MOGS	7841	HP:0010557	Overlapping fingers
OMIM:606056	MOGS	7841	HP:0000581	Blepharophimosis
OMIM:606056	MOGS	7841	HP:0002791	Hypoventilation
OMIM:606056	MOGS	7841	HP:0000269	Prominent occiput
OMIM:606056	MOGS	7841	HP:0000278	Retrognathia
OMIM:606056	MOGS	7841	HP:0002079	Hypoplasia of the corpus callosum
OMIM:606056	MOGS	7841	HP:0000218	High palate
OMIM:606056	MOGS	7841	HP:0000527	Long eyelashes
OMIM:606056	MOGS	7841	HP:0002240	Hepatomegaly
OMIM:606056	MOGS	7841	HP:0000407	Sensorineural hearing impairment
OMIM:606056	MOGS	7841	HP:0001263	Global developmental delay
OMIM:606056	MOGS	7841	HP:0004313	Decreased antibody level in blood
OMIM:606056	MOGS	7841	HP:0008872	Feeding difficulties in infancy
OMIM:606056	MOGS	7841	HP:0000648	Optic atrophy
OMIM:606056	MOGS	7841	HP:0002059	Cerebral atrophy
OMIM:606056	MOGS	7841	HP:0012745	Short palpebral fissure
ORPHA:370097	SLC24A5	283652	HP:0000639	Nystagmus
ORPHA:370097	SLC24A5	283652	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:370097	SLC24A5	283652	HP:0007663	Reduced visual acuity
ORPHA:370097	SLC24A5	283652	HP:0030613	Abnormal foveal morphology on macular OCT
ORPHA:370097	SLC24A5	283652	HP:0000613	Photophobia
ORPHA:370097	SLC24A5	283652	HP:0008034	Abnormal iris pigmentation
OMIM:612716	SPR	6697	HP:0001251	Ataxia
OMIM:612716	SPR	6697	HP:0000657	Oculomotor apraxia
OMIM:612716	SPR	6697	HP:0001250	Seizures
OMIM:612716	SPR	6697	HP:0000007	Autosomal recessive inheritance
OMIM:612716	SPR	6697	HP:0000718	Aggressive behavior
OMIM:612716	SPR	6697	HP:0001510	Growth delay
OMIM:612716	SPR	6697	HP:0002360	Sleep disturbance
OMIM:612716	SPR	6697	HP:0001249	Intellectual disability
OMIM:612716	SPR	6697	HP:0008297	Transient hyperphenylalaninemia
OMIM:612716	SPR	6697	HP:0003828	Variable expressivity
OMIM:612716	SPR	6697	HP:0001337	Tremor
OMIM:612716	SPR	6697	HP:0000252	Microcephaly
OMIM:612716	SPR	6697	HP:0001257	Spasticity
OMIM:612716	SPR	6697	HP:0001260	Dysarthria
OMIM:612716	SPR	6697	HP:0001332	Dystonia
OMIM:612716	SPR	6697	HP:0003593	Infantile onset
OMIM:612716	SPR	6697	HP:0001266	Choreoathetosis
OMIM:612716	SPR	6697	HP:0000752	Hyperactivity
OMIM:612716	SPR	6697	HP:0008936	Muscular hypotonia of the trunk
OMIM:612716	SPR	6697	HP:0000006	Autosomal dominant inheritance
OMIM:612716	SPR	6697	HP:0001263	Global developmental delay
OMIM:612376	RARA	5914	HP:0001428	Somatic mutation
OMIM:612376	RARA	5914	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	RARA	5914	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	NUMA1	4926	HP:0001428	Somatic mutation
OMIM:612376	NUMA1	4926	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	NUMA1	4926	HP:0004836	Acute promyelocytic leukemia
ORPHA:1387	RAB3GAP1	22930	HP:0000272	Malar flattening
ORPHA:1387	RAB3GAP1	22930	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1387	RAB3GAP1	22930	HP:0005280	Depressed nasal bridge
ORPHA:1387	RAB3GAP1	22930	HP:0000232	Everted lower lip vermilion
ORPHA:1387	RAB3GAP1	22930	HP:0000252	Microcephaly
ORPHA:1387	RAB3GAP1	22930	HP:0004322	Short stature
ORPHA:1387	RAB3GAP1	22930	HP:0000221	Furrowed tongue
ORPHA:1387	RAB3GAP1	22930	HP:0000601	Hypotelorism
ORPHA:1387	RAB3GAP1	22930	HP:0000347	Micrognathia
ORPHA:1387	RAB3GAP1	22930	HP:0001249	Intellectual disability
ORPHA:1387	RAB3GAP1	22930	HP:0011800	Midface retrusion
ORPHA:1387	RAB3GAP1	22930	HP:0007495	Prematurely aged appearance
ORPHA:1387	RAB3GAP1	22930	HP:0002162	Low posterior hairline
ORPHA:1387	RAB3GAP1	22930	HP:0008872	Feeding difficulties in infancy
ORPHA:1387	RAB3GAP1	22930	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:1387	RAB3GAP1	22930	HP:0008388	Abnormal toenail morphology
ORPHA:1387	RAB3GAP1	22930	HP:0000518	Cataract
ORPHA:1387	RAB3GAP1	22930	HP:0000248	Brachycephaly
ORPHA:1387	RAB3GAP1	22930	HP:0000322	Short philtrum
ORPHA:1387	RAB3GAP1	22930	HP:0000028	Cryptorchidism
ORPHA:1387	RAB3GAP1	22930	HP:0000218	High palate
ORPHA:1387	RAB3GAP1	22930	HP:0003307	Hyperlordosis
ORPHA:1387	RAB3GAP1	22930	HP:0000692	Misalignment of teeth
ORPHA:1387	RAB3GAP1	22930	HP:0007477	Abnormal dermatoglyphics
ORPHA:1387	RAB3GAP1	22930	HP:0009832	Abnormality of the distal phalanx of finger
ORPHA:1387	RAB3GAP1	22930	HP:0009465	Ulnar deviation of finger
ORPHA:1387	RAB3GAP2	25782	HP:0000272	Malar flattening
ORPHA:1387	RAB3GAP2	25782	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1387	RAB3GAP2	25782	HP:0005280	Depressed nasal bridge
ORPHA:1387	RAB3GAP2	25782	HP:0000232	Everted lower lip vermilion
ORPHA:1387	RAB3GAP2	25782	HP:0000252	Microcephaly
ORPHA:1387	RAB3GAP2	25782	HP:0004322	Short stature
ORPHA:1387	RAB3GAP2	25782	HP:0000221	Furrowed tongue
ORPHA:1387	RAB3GAP2	25782	HP:0000601	Hypotelorism
ORPHA:1387	RAB3GAP2	25782	HP:0000347	Micrognathia
ORPHA:1387	RAB3GAP2	25782	HP:0001249	Intellectual disability
ORPHA:1387	RAB3GAP2	25782	HP:0011800	Midface retrusion
ORPHA:1387	RAB3GAP2	25782	HP:0007495	Prematurely aged appearance
ORPHA:1387	RAB3GAP2	25782	HP:0002162	Low posterior hairline
ORPHA:1387	RAB3GAP2	25782	HP:0008872	Feeding difficulties in infancy
ORPHA:1387	RAB3GAP2	25782	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:1387	RAB3GAP2	25782	HP:0008388	Abnormal toenail morphology
ORPHA:1387	RAB3GAP2	25782	HP:0000518	Cataract
ORPHA:1387	RAB3GAP2	25782	HP:0000248	Brachycephaly
ORPHA:1387	RAB3GAP2	25782	HP:0000322	Short philtrum
ORPHA:1387	RAB3GAP2	25782	HP:0000028	Cryptorchidism
ORPHA:1387	RAB3GAP2	25782	HP:0000218	High palate
ORPHA:1387	RAB3GAP2	25782	HP:0003307	Hyperlordosis
ORPHA:1387	RAB3GAP2	25782	HP:0000692	Misalignment of teeth
ORPHA:1387	RAB3GAP2	25782	HP:0007477	Abnormal dermatoglyphics
ORPHA:1387	RAB3GAP2	25782	HP:0009832	Abnormality of the distal phalanx of finger
ORPHA:1387	RAB3GAP2	25782	HP:0009465	Ulnar deviation of finger
OMIM:616851	SIPA1L3	23094	HP:0000519	Congenital cataract
OMIM:616851	SIPA1L3	23094	HP:0000007	Autosomal recessive inheritance
OMIM:617336	MYPN	84665	HP:0000007	Autosomal recessive inheritance
OMIM:617336	MYPN	84665	HP:0003391	Gowers sign
OMIM:617336	MYPN	84665	HP:0000218	High palate
OMIM:617336	MYPN	84665	HP:0003677	Slow progression
OMIM:617336	MYPN	84665	HP:0010628	Facial palsy
OMIM:604117	LOR	4014	HP:0040162	Orthokeratosis
OMIM:604117	LOR	4014	HP:0025114	Hypergranulosis
OMIM:604117	LOR	4014	HP:0001036	Parakeratosis
OMIM:604117	LOR	4014	HP:0000962	Hyperkeratosis
OMIM:604117	LOR	4014	HP:0000006	Autosomal dominant inheritance
ORPHA:99819	TSHR	7253	HP:0011784	Thyrotoxicosis with diffuse goiter
ORPHA:99819	TSHR	7253	HP:0008249	Thyroid hyperplasia
ORPHA:99819	TSHR	7253	HP:0000853	Goiter
ORPHA:99819	TSHR	7253	HP:0012188	Hyperemesis gravidarum
ORPHA:99819	TSHR	7253	HP:0000752	Hyperactivity
ORPHA:99819	TSHR	7253	HP:0011790	Activating thyroid-stimulating hormone receptor defect
ORPHA:99819	TSHR	7253	HP:0001270	Motor delay
ORPHA:99819	TSHR	7253	HP:0002014	Diarrhea
ORPHA:99819	TSHR	7253	HP:0002378	Hand tremor
ORPHA:99819	TSHR	7253	HP:0000713	Agitation
ORPHA:99819	TSHR	7253	HP:0001824	Weight loss
ORPHA:99819	TSHR	7253	HP:0002360	Sleep disturbance
ORPHA:1270	EMG1	10436	HP:0008850	Severe postnatal growth retardation
ORPHA:1270	EMG1	10436	HP:0001522	Death in infancy
ORPHA:1270	EMG1	10436	HP:0001387	Joint stiffness
ORPHA:1270	EMG1	10436	HP:0000448	Prominent nose
ORPHA:1270	EMG1	10436	HP:0000340	Sloping forehead
ORPHA:1270	EMG1	10436	HP:0100490	Camptodactyly of finger
ORPHA:1270	EMG1	10436	HP:0008846	Severe intrauterine growth retardation
ORPHA:1270	EMG1	10436	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1270	EMG1	10436	HP:0011344	Severe global developmental delay
ORPHA:1270	EMG1	10436	HP:0004322	Short stature
ORPHA:1270	EMG1	10436	HP:0000028	Cryptorchidism
ORPHA:1270	EMG1	10436	HP:0000252	Microcephaly
ORPHA:1270	EMG1	10436	HP:0008872	Feeding difficulties in infancy
ORPHA:1270	EMG1	10436	HP:0001838	Rocker bottom foot
ORPHA:1270	EMG1	10436	HP:0000347	Micrognathia
OMIM:615300	LARS2	23395	HP:0000013	Hypoplasia of the uterus
OMIM:615300	LARS2	23395	HP:0001730	Progressive hearing impairment
OMIM:615300	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:615300	LARS2	23395	HP:0008209	Premature ovarian insufficiency
OMIM:615300	LARS2	23395	HP:0000786	Primary amenorrhea
OMIM:172800	KIT	3815	HP:0002664	Neoplasm
OMIM:172800	KIT	3815	HP:0001100	Heterochromia iridis
OMIM:172800	KIT	3815	HP:0007542	Absent pigmentation of the ventral chest
OMIM:172800	KIT	3815	HP:0002211	White forelock
OMIM:172800	KIT	3815	HP:0002251	Aganglionic megacolon
OMIM:172800	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:172800	KIT	3815	HP:0000598	Abnormality of the ear
OMIM:172800	KIT	3815	HP:0007443	Partial albinism
OMIM:172800	KIT	3815	HP:0007544	Piebaldism
OMIM:172800	SNAI2	6591	HP:0002664	Neoplasm
OMIM:172800	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:172800	SNAI2	6591	HP:0007542	Absent pigmentation of the ventral chest
OMIM:172800	SNAI2	6591	HP:0002211	White forelock
OMIM:172800	SNAI2	6591	HP:0002251	Aganglionic megacolon
OMIM:172800	SNAI2	6591	HP:0000006	Autosomal dominant inheritance
OMIM:172800	SNAI2	6591	HP:0000598	Abnormality of the ear
OMIM:172800	SNAI2	6591	HP:0007443	Partial albinism
OMIM:172800	SNAI2	6591	HP:0007544	Piebaldism
ORPHA:98870	KIF23	9493	HP:0005518	Increased mean corpuscular volume
ORPHA:98870	KIF23	9493	HP:0011273	Anisocytosis
ORPHA:98870	KIF23	9493	HP:0002904	Hyperbilirubinemia
ORPHA:98870	KIF23	9493	HP:0025035	Abnormal proerythroblast morphology
ORPHA:98870	KIF23	9493	HP:0003452	Increased serum iron
ORPHA:98870	KIF23	9493	HP:0004447	Poikilocytosis
ORPHA:98870	KIF23	9493	HP:0001903	Anemia
ORPHA:98870	KIF23	9493	HP:0025196	Increased total iron binding capacity
ORPHA:98870	KIF23	9493	HP:0025354	Abnormal cellular phenotype
ORPHA:98870	KIF23	9493	HP:0012378	Fatigue
ORPHA:333	ASAH1	427	HP:0002240	Hepatomegaly
ORPHA:333	ASAH1	427	HP:0000639	Nystagmus
ORPHA:333	ASAH1	427	HP:0003199	Decreased muscle mass
ORPHA:333	ASAH1	427	HP:0001508	Failure to thrive
ORPHA:333	ASAH1	427	HP:0007470	Periarticular subcutaneous nodules
ORPHA:333	ASAH1	427	HP:0001615	Hoarse cry
ORPHA:333	ASAH1	427	HP:0001386	Joint swelling
ORPHA:333	ASAH1	427	HP:0001387	Joint stiffness
ORPHA:333	ASAH1	427	HP:0002829	Arthralgia
ORPHA:333	ASAH1	427	HP:0002205	Recurrent respiratory infections
ORPHA:333	ASAH1	427	HP:0002808	Kyphosis
ORPHA:333	ASAH1	427	HP:0004322	Short stature
ORPHA:333	ASAH1	427	HP:0002093	Respiratory insufficiency
ORPHA:333	ASAH1	427	HP:0000939	Osteoporosis
ORPHA:333	ASAH1	427	HP:0001601	Laryngomalacia
OMIM:610374	ABCC8	6833	HP:0008255	Transient neonatal diabetes mellitus
OMIM:610374	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
ORPHA:29	MVK	4598	HP:0000592	Blue sclerae
ORPHA:29	MVK	4598	HP:0001251	Ataxia
ORPHA:29	MVK	4598	HP:0001263	Global developmental delay
ORPHA:29	MVK	4598	HP:0004322	Short stature
ORPHA:29	MVK	4598	HP:0000325	Triangular face
ORPHA:29	MVK	4598	HP:0000518	Cataract
ORPHA:29	MVK	4598	HP:0000268	Dolichocephaly
ORPHA:29	MVK	4598	HP:0001744	Splenomegaly
ORPHA:29	MVK	4598	HP:0000494	Downslanted palpebral fissures
ORPHA:29	MVK	4598	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:29	MVK	4598	HP:0002120	Cerebral cortical atrophy
ORPHA:29	MVK	4598	HP:0000252	Microcephaly
ORPHA:29	MVK	4598	HP:0001252	Muscular hypotonia
ORPHA:29	MVK	4598	HP:0002750	Delayed skeletal maturation
ORPHA:29	MVK	4598	HP:0001249	Intellectual disability
ORPHA:29	MVK	4598	HP:0000239	Large fontanelles
ORPHA:29	MVK	4598	HP:0001250	Seizures
ORPHA:505	HLA-DRA	3122	HP:0002225	Sparse pubic hair
ORPHA:505	HLA-DRA	3122	HP:0001596	Alopecia
ORPHA:505	HLA-DRA	3122	HP:0100725	Lichenification
ORPHA:505	HLA-DRA	3122	HP:0002209	Sparse scalp hair
ORPHA:505	HLA-DRA	3122	HP:0002215	Sparse axillary hair
ORPHA:505	HLA-DRA	3122	HP:0000989	Pruritus
ORPHA:505	HLA-DRA	3122	HP:0007468	Perifollicular hyperkeratosis
OMIM:248340	COLEC10	10584	HP:0000054	Micropenis
OMIM:248340	COLEC10	10584	HP:0000377	Abnormality of the pinna
OMIM:248340	COLEC10	10584	HP:0000365	Hearing impairment
OMIM:248340	COLEC10	10584	HP:0000048	Bifid scrotum
OMIM:248340	COLEC10	10584	HP:0002006	Facial cleft
OMIM:248340	COLEC10	10584	HP:0001249	Intellectual disability
OMIM:248340	COLEC10	10584	HP:0000175	Cleft palate
OMIM:248340	COLEC10	10584	HP:0000508	Ptosis
OMIM:248340	COLEC10	10584	HP:0004322	Short stature
OMIM:248340	COLEC10	10584	HP:0000316	Hypertelorism
OMIM:248340	COLEC10	10584	HP:0030084	Clinodactyly
OMIM:248340	COLEC10	10584	HP:0000204	Cleft upper lip
OMIM:248340	COLEC10	10584	HP:0002553	Highly arched eyebrow
OMIM:248340	COLEC10	10584	HP:0100258	Preaxial polydactyly
OMIM:248340	COLEC10	10584	HP:0000581	Blepharophimosis
OMIM:248340	COLEC10	10584	HP:0000007	Autosomal recessive inheritance
OMIM:248340	COLEC10	10584	HP:0000808	Penoscrotal hypospadias
OMIM:248340	COLEC10	10584	HP:0000537	Epicanthus inversus
OMIM:616346	DNM1	1759	HP:0002376	Developmental regression
OMIM:616346	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:616346	DNM1	1759	HP:0002355	Difficulty walking
OMIM:616346	DNM1	1759	HP:0001250	Seizures
OMIM:616346	DNM1	1759	HP:0002540	Inability to walk
OMIM:616346	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:616346	DNM1	1759	HP:0001249	Intellectual disability
OMIM:616346	DNM1	1759	HP:0001290	Generalized hypotonia
OMIM:616346	DNM1	1759	HP:0001344	Absent speech
OMIM:617302	YME1L1	10730	HP:0000252	Microcephaly
OMIM:617302	YME1L1	10730	HP:0000486	Strabismus
OMIM:617302	YME1L1	10730	HP:0011800	Midface retrusion
OMIM:617302	YME1L1	10730	HP:0001263	Global developmental delay
OMIM:617302	YME1L1	10730	HP:0004322	Short stature
OMIM:617302	YME1L1	10730	HP:0000256	Macrocephaly
OMIM:617302	YME1L1	10730	HP:0000648	Optic atrophy
OMIM:617302	YME1L1	10730	HP:0000505	Visual impairment
OMIM:617302	YME1L1	10730	HP:0000545	Myopia
OMIM:617302	YME1L1	10730	HP:0000540	Hypermetropia
OMIM:617302	YME1L1	10730	HP:0002487	Hyperkinesis
OMIM:617302	YME1L1	10730	HP:0002352	Leukoencephalopathy
OMIM:617302	YME1L1	10730	HP:0012444	Brain atrophy
OMIM:617302	YME1L1	10730	HP:0000646	Amblyopia
OMIM:617302	YME1L1	10730	HP:0001349	Facial diplegia
OMIM:617302	YME1L1	10730	HP:0003593	Infantile onset
OMIM:617302	YME1L1	10730	HP:0000007	Autosomal recessive inheritance
OMIM:617302	YME1L1	10730	HP:0001249	Intellectual disability
OMIM:617302	YME1L1	10730	HP:0001310	Dysmetria
OMIM:617302	YME1L1	10730	HP:0000400	Macrotia
OMIM:617302	YME1L1	10730	HP:0000752	Hyperactivity
OMIM:617302	YME1L1	10730	HP:0001321	Cerebellar hypoplasia
OMIM:415000	RPS4Y2	140032	HP:0000027	Azoospermia
OMIM:415000	RPS4Y2	140032	HP:0001450	Y-linked inheritance
OMIM:415000	PRY2	442862	HP:0000027	Azoospermia
OMIM:415000	PRY2	442862	HP:0001450	Y-linked inheritance
OMIM:415000	DDX3Y	8653	HP:0000027	Azoospermia
OMIM:415000	DDX3Y	8653	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ1	1617	HP:0000027	Azoospermia
OMIM:415000	DAZ1	1617	HP:0001450	Y-linked inheritance
OMIM:415000	CDY2A	9426	HP:0000027	Azoospermia
OMIM:415000	CDY2A	9426	HP:0001450	Y-linked inheritance
OMIM:415000	RBMY1A1	5940	HP:0000027	Azoospermia
OMIM:415000	RBMY1A1	5940	HP:0001450	Y-linked inheritance
OMIM:415000	HSFY1	86614	HP:0000027	Azoospermia
OMIM:415000	HSFY1	86614	HP:0001450	Y-linked inheritance
OMIM:415000	PRY	9081	HP:0000027	Azoospermia
OMIM:415000	PRY	9081	HP:0001450	Y-linked inheritance
OMIM:415000	XKRY	9082	HP:0000027	Azoospermia
OMIM:415000	XKRY	9082	HP:0001450	Y-linked inheritance
OMIM:415000	BPY2	9083	HP:0000027	Azoospermia
OMIM:415000	BPY2	9083	HP:0001450	Y-linked inheritance
OMIM:415000	KDM5D	8284	HP:0000027	Azoospermia
OMIM:415000	KDM5D	8284	HP:0001450	Y-linked inheritance
OMIM:415000	VCY	9084	HP:0000027	Azoospermia
OMIM:415000	VCY	9084	HP:0001450	Y-linked inheritance
OMIM:415000	CDY1	9085	HP:0000027	Azoospermia
OMIM:415000	CDY1	9085	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ3	57054	HP:0000027	Azoospermia
OMIM:415000	DAZ3	57054	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ2	57055	HP:0000027	Azoospermia
OMIM:415000	DAZ2	57055	HP:0001450	Y-linked inheritance
OMIM:415000	USP9Y	8287	HP:0000027	Azoospermia
OMIM:415000	USP9Y	8287	HP:0001450	Y-linked inheritance
OMIM:604213	GPSM2	29899	HP:0001338	Partial agenesis of the corpus callosum
OMIM:604213	GPSM2	29899	HP:0100702	Arachnoid cyst
OMIM:604213	GPSM2	29899	HP:0000238	Hydrocephalus
OMIM:604213	GPSM2	29899	HP:0002119	Ventriculomegaly
OMIM:604213	GPSM2	29899	HP:0002700	Large foramen magnum
OMIM:604213	GPSM2	29899	HP:0001321	Cerebellar hypoplasia
OMIM:604213	GPSM2	29899	HP:0006989	Dysplastic corpus callosum
OMIM:604213	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:604213	GPSM2	29899	HP:0002126	Polymicrogyria
OMIM:604213	GPSM2	29899	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604213	GPSM2	29899	HP:0002281	Gray matter heterotopias
OMIM:604213	GPSM2	29899	HP:0007033	Cerebellar dysplasia
OMIM:604213	GPSM2	29899	HP:0008625	Severe sensorineural hearing impairment
OMIM:613388	SLC34A1	6569	HP:0004322	Short stature
OMIM:613388	SLC34A1	6569	HP:0000938	Osteopenia
OMIM:613388	SLC34A1	6569	HP:0002150	Hypercalciuria
OMIM:613388	SLC34A1	6569	HP:0000007	Autosomal recessive inheritance
OMIM:613388	SLC34A1	6569	HP:0000083	Renal insufficiency
OMIM:613388	SLC34A1	6569	HP:0000114	Proximal tubulopathy
OMIM:613388	SLC34A1	6569	HP:0002909	Generalized aminoaciduria
OMIM:613388	SLC34A1	6569	HP:0003076	Glycosuria
OMIM:613388	SLC34A1	6569	HP:0001324	Muscle weakness
OMIM:613388	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:613388	SLC34A1	6569	HP:0002748	Rickets
OMIM:613388	SLC34A1	6569	HP:0010639	Elevated alkaline phosphatase of bone origin
ORPHA:66637	BMPER	168667	HP:0002475	Myelomeningocele
ORPHA:66637	BMPER	168667	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:66637	BMPER	168667	HP:0005562	Multiple renal cysts
ORPHA:66637	BMPER	168667	HP:0100625	Enlarged thorax
ORPHA:66637	BMPER	168667	HP:0010306	Short thorax
ORPHA:66637	BMPER	168667	HP:0000921	Missing ribs
ORPHA:66637	BMPER	168667	HP:0000470	Short neck
ORPHA:66637	BMPER	168667	HP:0002098	Respiratory distress
ORPHA:66637	BMPER	168667	HP:0003275	Narrow pelvis bone
ORPHA:66637	BMPER	168667	HP:0004599	Absent or minimally ossified vertebral bodies
OMIM:144750	LRP5	4041	HP:0000689	Dental malocclusion
OMIM:144750	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:144750	LRP5	4041	HP:0000407	Sensorineural hearing impairment
OMIM:144750	LRP5	4041	HP:0004425	Flat forehead
OMIM:144750	LRP5	4041	HP:0100861	Vertebral body sclerosis
OMIM:144750	LRP5	4041	HP:0000935	Thickened cortex of long bones
OMIM:144750	LRP5	4041	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:144750	LRP5	4041	HP:0001507	Growth abnormality
OMIM:144750	LRP5	4041	HP:0006174	Metacarpal diaphyseal endosteal sclerosis
OMIM:144750	LRP5	4041	HP:0008114	Metatarsal diaphyseal endosteal sclerosis
OMIM:144750	LRP5	4041	HP:0100923	Clavicular sclerosis
OMIM:144750	LRP5	4041	HP:0100789	Torus palatinus
OMIM:608093	DPAGT1	1798	HP:0003186	Inverted nipples
OMIM:608093	DPAGT1	1798	HP:0004209	Clinodactyly of the 5th finger
OMIM:608093	DPAGT1	1798	HP:0000954	Single transverse palmar crease
OMIM:608093	DPAGT1	1798	HP:0001249	Intellectual disability
OMIM:608093	DPAGT1	1798	HP:0001263	Global developmental delay
OMIM:608093	DPAGT1	1798	HP:0001347	Hyperreflexia
OMIM:608093	DPAGT1	1798	HP:0000252	Microcephaly
OMIM:608093	DPAGT1	1798	HP:0000518	Cataract
OMIM:608093	DPAGT1	1798	HP:0000639	Nystagmus
OMIM:608093	DPAGT1	1798	HP:0001250	Seizures
OMIM:608093	DPAGT1	1798	HP:0001290	Generalized hypotonia
OMIM:608093	DPAGT1	1798	HP:0003828	Variable expressivity
OMIM:608093	DPAGT1	1798	HP:0000577	Exotropia
OMIM:608093	DPAGT1	1798	HP:0010781	Skin dimples
OMIM:608093	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:608093	DPAGT1	1798	HP:0003642	Type I transferrin isoform profile
OMIM:608093	DPAGT1	1798	HP:0000347	Micrognathia
OMIM:608093	DPAGT1	1798	HP:0003577	Congenital onset
OMIM:300323	HPRT1	3251	HP:0003149	Hyperuricosuria
OMIM:300323	HPRT1	3251	HP:0000083	Renal insufficiency
OMIM:300323	HPRT1	3251	HP:0000787	Nephrolithiasis
OMIM:300323	HPRT1	3251	HP:0001419	X-linked recessive inheritance
OMIM:300323	HPRT1	3251	HP:0001854	Podagra
OMIM:300068	AR	367	HP:0000023	Inguinal hernia
OMIM:300068	AR	367	HP:0002225	Sparse pubic hair
OMIM:300068	AR	367	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:300068	AR	367	HP:0000786	Primary amenorrhea
OMIM:300068	AR	367	HP:0002664	Neoplasm
OMIM:300068	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:300068	AR	367	HP:0002550	Absent facial hair
OMIM:300068	AR	367	HP:0008232	Elevated circulating follicle stimulating hormone level
OMIM:300068	AR	367	HP:0008730	Female external genitalia in individual with 46,XY karyotype
OMIM:300068	AR	367	HP:0001507	Growth abnormality
OMIM:300068	AR	367	HP:0000066	Labial hypoplasia
OMIM:300068	AR	367	HP:0002215	Sparse axillary hair
OMIM:300068	AR	367	HP:0000771	Gynecomastia
OMIM:300068	AR	367	HP:0040314	Blind vagina
OMIM:617047	FLNC	2318	HP:0000006	Autosomal dominant inheritance
OMIM:617047	FLNC	2318	HP:0002094	Dyspnea
OMIM:617047	FLNC	2318	HP:0001635	Congestive heart failure
ORPHA:256	TOR1A	1861	HP:0001288	Gait disturbance
ORPHA:256	TOR1A	1861	HP:0001608	Abnormality of the voice
ORPHA:256	TOR1A	1861	HP:0001276	Hypertonia
ORPHA:428	CASR	846	HP:0000716	Depressivity
ORPHA:428	CASR	846	HP:0011675	Arrhythmia
ORPHA:428	CASR	846	HP:0002793	Abnormal pattern of respiration
ORPHA:428	CASR	846	HP:0003473	Fatigable weakness
ORPHA:428	CASR	846	HP:0003401	Paresthesia
ORPHA:428	CASR	846	HP:0001596	Alopecia
ORPHA:428	CASR	846	HP:0000121	Nephrocalcinosis
ORPHA:428	CASR	846	HP:0001231	Abnormality of the fingernails
ORPHA:428	CASR	846	HP:0000712	Emotional lability
ORPHA:428	CASR	846	HP:0012608	Hypermagnesiuria
ORPHA:428	CASR	846	HP:0000739	Anxiety
ORPHA:428	CASR	846	HP:0002905	Hyperphosphatemia
ORPHA:428	CASR	846	HP:0002027	Abdominal pain
ORPHA:428	CASR	846	HP:0002901	Hypocalcemia
ORPHA:428	CASR	846	HP:0002615	Hypotension
ORPHA:428	CASR	846	HP:0002917	Hypomagnesemia
ORPHA:428	CASR	846	HP:0000958	Dry skin
ORPHA:428	CASR	846	HP:0002150	Hypercalciuria
ORPHA:428	CASR	846	HP:0003457	EMG abnormality
ORPHA:428	CASR	846	HP:0002356	Writer's cramp
ORPHA:428	CASR	846	HP:0040148	Cortical myoclonus
ORPHA:428	GNA11	2767	HP:0000716	Depressivity
ORPHA:428	GNA11	2767	HP:0011675	Arrhythmia
ORPHA:428	GNA11	2767	HP:0002793	Abnormal pattern of respiration
ORPHA:428	GNA11	2767	HP:0003473	Fatigable weakness
ORPHA:428	GNA11	2767	HP:0003401	Paresthesia
ORPHA:428	GNA11	2767	HP:0001596	Alopecia
ORPHA:428	GNA11	2767	HP:0000121	Nephrocalcinosis
ORPHA:428	GNA11	2767	HP:0001231	Abnormality of the fingernails
ORPHA:428	GNA11	2767	HP:0000712	Emotional lability
ORPHA:428	GNA11	2767	HP:0012608	Hypermagnesiuria
ORPHA:428	GNA11	2767	HP:0000739	Anxiety
ORPHA:428	GNA11	2767	HP:0002905	Hyperphosphatemia
ORPHA:428	GNA11	2767	HP:0002027	Abdominal pain
ORPHA:428	GNA11	2767	HP:0002901	Hypocalcemia
ORPHA:428	GNA11	2767	HP:0002615	Hypotension
ORPHA:428	GNA11	2767	HP:0002917	Hypomagnesemia
ORPHA:428	GNA11	2767	HP:0000958	Dry skin
ORPHA:428	GNA11	2767	HP:0002150	Hypercalciuria
ORPHA:428	GNA11	2767	HP:0003457	EMG abnormality
ORPHA:428	GNA11	2767	HP:0002356	Writer's cramp
ORPHA:428	GNA11	2767	HP:0040148	Cortical myoclonus
OMIM:614883	PEX13	5194	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX13	5194	HP:0001508	Failure to thrive
OMIM:614883	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614883	PEX13	5194	HP:0000325	Triangular face
OMIM:614883	PEX13	5194	HP:0006829	Severe muscular hypotonia
OMIM:614883	PEX13	5194	HP:0000348	High forehead
OMIM:614883	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614883	PEX13	5194	HP:0003429	CNS hypomyelination
OMIM:614883	PEX13	5194	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX13	5194	HP:0002126	Polymicrogyria
OMIM:614883	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614883	PEX13	5194	HP:0002104	Apnea
OMIM:614883	PEX13	5194	HP:0000463	Anteverted nares
OMIM:614883	PEX13	5194	HP:0001339	Lissencephaly
OMIM:614883	PEX13	5194	HP:0000260	Wide anterior fontanel
OMIM:614883	PEX13	5194	HP:0001250	Seizures
OMIM:614883	PEX13	5194	HP:0008947	Infantile muscular hypotonia
OMIM:614883	PEX13	5194	HP:0005562	Multiple renal cysts
OMIM:614883	PEX13	5194	HP:0100729	Large face
OMIM:614378	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:614378	WDR19	57728	HP:0000767	Pectus excavatum
OMIM:614378	WDR19	57728	HP:0001385	Hip dysplasia
OMIM:614378	WDR19	57728	HP:0000968	Ectodermal dysplasia
OMIM:614378	WDR19	57728	HP:0008081	Pes valgus
OMIM:614378	WDR19	57728	HP:0000540	Hypermetropia
OMIM:614378	WDR19	57728	HP:0001382	Joint hypermobility
OMIM:614378	WDR19	57728	HP:0000774	Narrow chest
OMIM:614378	WDR19	57728	HP:0010174	Broad phalanx of the toes
OMIM:614378	WDR19	57728	HP:0000973	Cutis laxa
OMIM:614378	WDR19	57728	HP:0004322	Short stature
OMIM:614378	WDR19	57728	HP:0009882	Short distal phalanx of finger
OMIM:614378	WDR19	57728	HP:0000112	Nephropathy
OMIM:614378	WDR19	57728	HP:0009836	Broad distal phalanx of finger
OMIM:614378	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:616216	ETV6	2120	HP:0001873	Thrombocytopenia
OMIM:616216	ETV6	2120	HP:0000006	Autosomal dominant inheritance
OMIM:616216	ETV6	2120	HP:0000978	Bruising susceptibility
OMIM:616216	ETV6	2120	HP:0000967	Petechiae
OMIM:616216	ETV6	2120	HP:0000421	Epistaxis
ORPHA:1486	GLE1	2733	HP:0000316	Hypertelorism
ORPHA:1486	GLE1	2733	HP:0009811	Abnormality of the elbow
ORPHA:1486	GLE1	2733	HP:0000470	Short neck
ORPHA:1486	GLE1	2733	HP:0000347	Micrognathia
ORPHA:1486	GLE1	2733	HP:0003100	Slender long bone
ORPHA:1486	GLE1	2733	HP:0002757	Recurrent fractures
ORPHA:1486	GLE1	2733	HP:0004322	Short stature
ORPHA:1486	GLE1	2733	HP:0009775	Amniotic constriction ring
ORPHA:1486	GLE1	2733	HP:0000465	Webbed neck
ORPHA:1486	GLE1	2733	HP:0000772	Abnormality of the ribs
ORPHA:1486	GLE1	2733	HP:0003103	Abnormal cortical bone morphology
ORPHA:1486	GLE1	2733	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1486	GLE1	2733	HP:0001376	Limitation of joint mobility
ORPHA:1486	GLE1	2733	HP:0002089	Pulmonary hypoplasia
ORPHA:1486	GLE1	2733	HP:0001561	Polyhydramnios
ORPHA:1486	GLE1	2733	HP:0003272	Abnormality of the hip bone
ORPHA:1486	GLE1	2733	HP:0003202	Skeletal muscle atrophy
OMIM:167250	SQSTM1	8878	HP:0005686	Patchy osteosclerosis
OMIM:167250	SQSTM1	8878	HP:0002653	Bone pain
OMIM:167250	SQSTM1	8878	HP:0003155	Elevated alkaline phosphatase
OMIM:167250	SQSTM1	8878	HP:0003084	Fractures of the long bones
OMIM:167250	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:167250	SQSTM1	8878	HP:0002669	Osteosarcoma
ORPHA:2841	ATP2C1	27032	HP:0010783	Erythema
ORPHA:2841	ATP2C1	27032	HP:0200037	Skin vesicle
ORPHA:2841	ATP2C1	27032	HP:0200041	Skin erosion
ORPHA:2841	ATP2C1	27032	HP:0000962	Hyperkeratosis
ORPHA:2841	ATP2C1	27032	HP:0100792	Acantholysis
OMIM:607476	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:607476	RLBP1	6017	HP:0000551	Abnormality of color vision
OMIM:607476	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:607476	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:607476	RLBP1	6017	HP:0000575	Scotoma
OMIM:607476	RLBP1	6017	HP:0000505	Visual impairment
ORPHA:2378	LMBR1	64327	HP:0003019	Abnormality of the wrist
ORPHA:2378	LMBR1	64327	HP:0000448	Prominent nose
ORPHA:2378	LMBR1	64327	HP:0002000	Short columella
ORPHA:2378	LMBR1	64327	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:2378	LMBR1	64327	HP:0000430	Underdeveloped nasal alae
ORPHA:2378	LMBR1	64327	HP:0000457	Depressed nasal ridge
ORPHA:2378	LMBR1	64327	HP:0010689	Mirror image polydactyly
ORPHA:2378	LMBR1	64327	HP:0001199	Triphalangeal thumb
ORPHA:2378	LMBR1	64327	HP:0001841	Preaxial foot polydactyly
ORPHA:2378	LMBR1	64327	HP:0008368	Tarsal synostosis
ORPHA:2378	LMBR1	64327	HP:0003974	Absent radius
ORPHA:2378	LMBR1	64327	HP:0001163	Abnormality of the metacarpal bones
ORPHA:2378	LMBR1	64327	HP:0006101	Finger syndactyly
ORPHA:2378	LMBR1	64327	HP:0001883	Talipes
ORPHA:2378	LMBR1	64327	HP:0001376	Limitation of joint mobility
ORPHA:2378	LMBR1	64327	HP:0001770	Toe syndactyly
ORPHA:2378	LMBR1	64327	HP:0009556	Absent tibia
ORPHA:2378	LMBR1	64327	HP:0100524	Limb duplication
ORPHA:2378	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
ORPHA:2378	LMBR1	64327	HP:0010503	Fibular duplication
OMIM:615491	UCHL1	7345	HP:0003676	Progressive
OMIM:615491	UCHL1	7345	HP:0011448	Ankle clonus
OMIM:615491	UCHL1	7345	HP:0001763	Pes planus
OMIM:615491	UCHL1	7345	HP:0000648	Optic atrophy
OMIM:615491	UCHL1	7345	HP:0001258	Spastic paraplegia
OMIM:615491	UCHL1	7345	HP:0002411	Myokymia
OMIM:615491	UCHL1	7345	HP:0002599	Head titubation
OMIM:615491	UCHL1	7345	HP:0000007	Autosomal recessive inheritance
OMIM:615491	UCHL1	7345	HP:0000529	Progressive visual loss
OMIM:615491	UCHL1	7345	HP:0001371	Flexion contracture
OMIM:615491	UCHL1	7345	HP:0002273	Tetraparesis
OMIM:615491	UCHL1	7345	HP:0001310	Dysmetria
OMIM:615491	UCHL1	7345	HP:0002380	Fasciculations
OMIM:615491	UCHL1	7345	HP:0002180	Neurodegeneration
OMIM:615491	UCHL1	7345	HP:0000545	Myopia
OMIM:615491	UCHL1	7345	HP:0000639	Nystagmus
OMIM:615491	UCHL1	7345	HP:0002059	Cerebral atrophy
OMIM:615491	UCHL1	7345	HP:0001761	Pes cavus
OMIM:615491	UCHL1	7345	HP:0003487	Babinski sign
OMIM:615491	UCHL1	7345	HP:0001272	Cerebellar atrophy
OMIM:274500	TPO	7173	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274500	TPO	7173	HP:0000853	Goiter
OMIM:274500	TPO	7173	HP:0008263	Thyroid defect in oxidation and organification of iodide
OMIM:274500	TPO	7173	HP:0000821	Hypothyroidism
OMIM:157600	DCC	1630	HP:0001335	Bimanual synkinesia
OMIM:157600	DCC	1630	HP:0003829	Incomplete penetrance
OMIM:157600	DCC	1630	HP:0000006	Autosomal dominant inheritance
OMIM:615120	AGRN	375790	HP:0003701	Proximal muscle weakness
OMIM:615120	AGRN	375790	HP:0010628	Facial palsy
OMIM:615120	AGRN	375790	HP:0000508	Ptosis
OMIM:615120	AGRN	375790	HP:0000774	Narrow chest
OMIM:615120	AGRN	375790	HP:0003388	Easy fatigability
OMIM:615120	AGRN	375790	HP:0003828	Variable expressivity
OMIM:615120	AGRN	375790	HP:0000007	Autosomal recessive inheritance
ORPHA:1658	SMARCAD1	56916	HP:0001072	Thickened skin
ORPHA:1658	SMARCAD1	56916	HP:0008066	Abnormal blistering of the skin
ORPHA:1658	SMARCAD1	56916	HP:0007477	Abnormal dermatoglyphics
ORPHA:1658	SMARCAD1	56916	HP:0001056	Milia
ORPHA:1658	SMARCAD1	56916	HP:0100490	Camptodactyly of finger
ORPHA:1658	SMARCAD1	56916	HP:0000988	Skin rash
ORPHA:1658	SMARCAD1	56916	HP:0000963	Thin skin
ORPHA:1658	SMARCAD1	56916	HP:0000966	Hypohidrosis
OMIM:105400	SOD1	6647	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:105400	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	SOD1	6647	HP:0007024	Pseudobulbar paralysis
OMIM:105400	SOD1	6647	HP:0001425	Heterogeneous
OMIM:105400	SOD1	6647	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	SOD1	6647	HP:0001257	Spasticity
OMIM:105400	SOD1	6647	HP:0001347	Hyperreflexia
OMIM:105400	SOD1	6647	HP:0001324	Muscle weakness
OMIM:105400	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:105400	SOD1	6647	HP:0010535	Sleep apnea
OMIM:105400	SOD1	6647	HP:0002380	Fasciculations
OMIM:105400	SOD1	6647	HP:0003394	Muscle cramps
OMIM:105400	SOD1	6647	HP:0000007	Autosomal recessive inheritance
OMIM:611556	GYS1	2997	HP:0001712	Left ventricular hypertrophy
OMIM:611556	GYS1	2997	HP:0000007	Autosomal recessive inheritance
OMIM:611556	GYS1	2997	HP:0002069	Generalized tonic-clonic seizures
OMIM:611556	GYS1	2997	HP:0001638	Cardiomyopathy
OMIM:611556	GYS1	2997	HP:0003546	Exercise intolerance
OMIM:611556	GYS1	2997	HP:0012270	Decreased muscle glycogen content
OMIM:604168	CTDP1	9150	HP:0001270	Motor delay
OMIM:604168	CTDP1	9150	HP:0002751	Kyphoscoliosis
OMIM:604168	CTDP1	9150	HP:0002072	Chorea
OMIM:604168	CTDP1	9150	HP:0002059	Cerebral atrophy
OMIM:604168	CTDP1	9150	HP:0000482	Microcornea
OMIM:604168	CTDP1	9150	HP:0001249	Intellectual disability
OMIM:604168	CTDP1	9150	HP:0003593	Infantile onset
OMIM:604168	CTDP1	9150	HP:0004322	Short stature
OMIM:604168	CTDP1	9150	HP:0001761	Pes cavus
OMIM:604168	CTDP1	9150	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604168	CTDP1	9150	HP:0000519	Congenital cataract
OMIM:604168	CTDP1	9150	HP:0000639	Nystagmus
OMIM:604168	CTDP1	9150	HP:0001762	Talipes equinovarus
OMIM:604168	CTDP1	9150	HP:0000764	Peripheral axonal degeneration
OMIM:604168	CTDP1	9150	HP:0000815	Hypergonadotropic hypogonadism
OMIM:604168	CTDP1	9150	HP:0010620	Malar prominence
OMIM:604168	CTDP1	9150	HP:0007182	Peripheral hypomyelination
OMIM:604168	CTDP1	9150	HP:0001171	Split hand
OMIM:604168	CTDP1	9150	HP:0000007	Autosomal recessive inheritance
OMIM:604168	CTDP1	9150	HP:0001263	Global developmental delay
OMIM:604168	CTDP1	9150	HP:0001999	Abnormal facial shape
OMIM:604168	CTDP1	9150	HP:0000164	Abnormality of the dentition
OMIM:604168	CTDP1	9150	HP:0001251	Ataxia
OMIM:604168	CTDP1	9150	HP:0011096	Peripheral demyelination
OMIM:604168	CTDP1	9150	HP:0008214	Decreased serum estradiol
OMIM:604168	CTDP1	9150	HP:0008942	Acute rhabdomyolysis
OMIM:604168	CTDP1	9150	HP:0003487	Babinski sign
OMIM:604168	CTDP1	9150	HP:0007178	Motor polyneuropathy
OMIM:604168	CTDP1	9150	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604168	CTDP1	9150	HP:0002816	Genu recurvatum
OMIM:604168	CTDP1	9150	HP:0100543	Cognitive impairment
ORPHA:97286	SDHB	6390	HP:0005214	Intestinal obstruction
ORPHA:97286	SDHB	6390	HP:0002015	Dysphagia
ORPHA:97286	SDHB	6390	HP:0001824	Weight loss
ORPHA:97286	SDHB	6390	HP:0002668	Paraganglioma
ORPHA:97286	SDHB	6390	HP:0006824	Cranial nerve paralysis
ORPHA:97286	SDHB	6390	HP:0000360	Tinnitus
ORPHA:97286	SDHB	6390	HP:0000365	Hearing impairment
ORPHA:97286	SDHB	6390	HP:0002027	Abdominal pain
ORPHA:97286	SDHB	6390	HP:0002239	Gastrointestinal hemorrhage
ORPHA:97286	SDHB	6390	HP:0100723	Gastrointestinal stroma tumor
ORPHA:97286	SDHC	6391	HP:0005214	Intestinal obstruction
ORPHA:97286	SDHC	6391	HP:0002015	Dysphagia
ORPHA:97286	SDHC	6391	HP:0001824	Weight loss
ORPHA:97286	SDHC	6391	HP:0002668	Paraganglioma
ORPHA:97286	SDHC	6391	HP:0006824	Cranial nerve paralysis
ORPHA:97286	SDHC	6391	HP:0000360	Tinnitus
ORPHA:97286	SDHC	6391	HP:0000365	Hearing impairment
ORPHA:97286	SDHC	6391	HP:0002027	Abdominal pain
ORPHA:97286	SDHC	6391	HP:0002239	Gastrointestinal hemorrhage
ORPHA:97286	SDHC	6391	HP:0100723	Gastrointestinal stroma tumor
ORPHA:97286	SDHD	6392	HP:0005214	Intestinal obstruction
ORPHA:97286	SDHD	6392	HP:0002015	Dysphagia
ORPHA:97286	SDHD	6392	HP:0001824	Weight loss
ORPHA:97286	SDHD	6392	HP:0002668	Paraganglioma
ORPHA:97286	SDHD	6392	HP:0006824	Cranial nerve paralysis
ORPHA:97286	SDHD	6392	HP:0000360	Tinnitus
ORPHA:97286	SDHD	6392	HP:0000365	Hearing impairment
ORPHA:97286	SDHD	6392	HP:0002027	Abdominal pain
ORPHA:97286	SDHD	6392	HP:0002239	Gastrointestinal hemorrhage
ORPHA:97286	SDHD	6392	HP:0100723	Gastrointestinal stroma tumor
OMIM:615159	UQCRQ	27089	HP:0001249	Intellectual disability
OMIM:615159	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:615159	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:615159	UQCRQ	27089	HP:0001347	Hyperreflexia
OMIM:615159	UQCRQ	27089	HP:0002305	Athetosis
OMIM:615159	UQCRQ	27089	HP:0001332	Dystonia
OMIM:615159	UQCRQ	27089	HP:0001344	Absent speech
OMIM:615159	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCRQ	27089	HP:0001290	Generalized hypotonia
OMIM:615159	UQCRQ	27089	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCRQ	27089	HP:0010864	Intellectual disability, severe
OMIM:615159	UQCRQ	27089	HP:0001251	Ataxia
OMIM:300491	SYN1	6853	HP:0000729	Autistic behavior
OMIM:300491	SYN1	6853	HP:0007359	Focal seizures
OMIM:300491	SYN1	6853	HP:0000718	Aggressive behavior
OMIM:300491	SYN1	6853	HP:0001328	Specific learning disability
OMIM:300491	SYN1	6853	HP:0001423	X-linked dominant inheritance
OMIM:300491	SYN1	6853	HP:0001419	X-linked recessive inheritance
OMIM:617275	GREM2	64388	HP:0000006	Autosomal dominant inheritance
ORPHA:1427	COL11A2	1302	HP:0008872	Feeding difficulties in infancy
ORPHA:1427	COL11A2	1302	HP:0002983	Micromelia
ORPHA:1427	COL11A2	1302	HP:0000457	Depressed nasal ridge
ORPHA:1427	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
ORPHA:1427	COL11A2	1302	HP:0000951	Abnormality of the skin
ORPHA:1427	COL11A2	1302	HP:0000944	Abnormality of the metaphysis
ORPHA:1427	COL11A2	1302	HP:0001387	Joint stiffness
ORPHA:1427	COL11A2	1302	HP:0000926	Platyspondyly
ORPHA:1427	COL11A2	1302	HP:0000272	Malar flattening
ORPHA:1427	COL11A2	1302	HP:0000463	Anteverted nares
ORPHA:1427	COL11A2	1302	HP:0003307	Hyperlordosis
ORPHA:1427	COL11A2	1302	HP:0006532	Recurrent pneumonia
ORPHA:1427	COL11A2	1302	HP:0002808	Kyphosis
ORPHA:1427	COL11A2	1302	HP:0000175	Cleft palate
ORPHA:52503	SLC6A8	6535	HP:0000742	Self-mutilation
ORPHA:52503	SLC6A8	6535	HP:0000752	Hyperactivity
ORPHA:52503	SLC6A8	6535	HP:0004322	Short stature
ORPHA:52503	SLC6A8	6535	HP:0004326	Cachexia
ORPHA:52503	SLC6A8	6535	HP:0002251	Aganglionic megacolon
ORPHA:52503	SLC6A8	6535	HP:0001252	Muscular hypotonia
ORPHA:52503	SLC6A8	6535	HP:0001332	Dystonia
ORPHA:52503	SLC6A8	6535	HP:0001276	Hypertonia
ORPHA:52503	SLC6A8	6535	HP:0002305	Athetosis
ORPHA:52503	SLC6A8	6535	HP:0000729	Autistic behavior
ORPHA:52503	SLC6A8	6535	HP:0001251	Ataxia
ORPHA:52503	SLC6A8	6535	HP:0001263	Global developmental delay
ORPHA:52503	SLC6A8	6535	HP:0000194	Open mouth
ORPHA:52503	SLC6A8	6535	HP:0000272	Malar flattening
ORPHA:52503	SLC6A8	6535	HP:0001249	Intellectual disability
ORPHA:52503	SLC6A8	6535	HP:0002595	Ileus
ORPHA:52503	SLC6A8	6535	HP:0002019	Constipation
ORPHA:52503	SLC6A8	6535	HP:0000750	Delayed speech and language development
ORPHA:52503	SLC6A8	6535	HP:0001250	Seizures
ORPHA:52503	SLC6A8	6535	HP:0012113	Abnormality of creatine metabolism
ORPHA:52503	SLC6A8	6535	HP:0002072	Chorea
OMIM:205100	ALS2	57679	HP:0003676	Progressive
OMIM:205100	ALS2	57679	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205100	ALS2	57679	HP:0002307	Drooling
OMIM:205100	ALS2	57679	HP:0002061	Lower limb spasticity
OMIM:205100	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:205100	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:205100	ALS2	57679	HP:0002015	Dysphagia
OMIM:205100	ALS2	57679	HP:0002491	Spasticity of facial muscles
OMIM:205100	ALS2	57679	HP:0003693	Distal amyotrophy
OMIM:205100	ALS2	57679	HP:0001285	Spastic tetraparesis
OMIM:205100	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:205100	ALS2	57679	HP:0002064	Spastic gait
OMIM:205100	ALS2	57679	HP:0002464	Spastic dysarthria
OMIM:205100	ALS2	57679	HP:0003487	Babinski sign
OMIM:205100	ALS2	57679	HP:0003677	Slow progression
OMIM:205100	ALS2	57679	HP:0009130	Hand muscle atrophy
OMIM:205100	ALS2	57679	HP:0002501	Spasticity of pharyngeal muscles
OMIM:205100	ALS2	57679	HP:0006986	Upper limb spasticity
OMIM:205100	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:205100	ALS2	57679	HP:0003444	EMG: chronic denervation signs
OMIM:205100	ALS2	57679	HP:0002425	Anarthria
OMIM:205100	ALS2	57679	HP:0000183	Difficulty in tongue movements
OMIM:205100	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
OMIM:101200	FGFR2	2263	HP:0004635	Cervical C5/C6 vertebrae fusion
OMIM:101200	FGFR2	2263	HP:0000272	Malar flattening
OMIM:101200	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101200	FGFR2	2263	HP:0001331	Absent septum pellucidum
OMIM:101200	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101200	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:101200	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:101200	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:101200	FGFR2	2263	HP:0001507	Growth abnormality
OMIM:101200	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:101200	FGFR2	2263	HP:0007099	Arnold-Chiari type I malformation
OMIM:101200	FGFR2	2263	HP:0012368	Flat face
OMIM:101200	FGFR2	2263	HP:0000689	Dental malocclusion
OMIM:101200	FGFR2	2263	HP:0000586	Shallow orbits
OMIM:101200	FGFR2	2263	HP:0000028	Cryptorchidism
OMIM:101200	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:101200	FGFR2	2263	HP:0001061	Acne
OMIM:101200	FGFR2	2263	HP:0000270	Delayed cranial suture closure
OMIM:101200	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101200	FGFR2	2263	HP:0000126	Hydronephrosis
OMIM:101200	FGFR2	2263	HP:0000239	Large fontanelles
OMIM:101200	FGFR2	2263	HP:0007291	Posterior fossa cyst
OMIM:101200	FGFR2	2263	HP:0002032	Esophageal atresia
OMIM:101200	FGFR2	2263	HP:0002623	Overriding aorta
OMIM:101200	FGFR2	2263	HP:0008111	Broad distal hallux
OMIM:101200	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:101200	FGFR2	2263	HP:0001274	Agenesis of corpus callosum
OMIM:101200	FGFR2	2263	HP:0004468	Anomalous tracheal cartilage
OMIM:101200	FGFR2	2263	HP:0000193	Bifid uvula
OMIM:101200	FGFR2	2263	HP:0000684	Delayed eruption of teeth
OMIM:101200	FGFR2	2263	HP:0010554	Cutaneous finger syndactyly
OMIM:101200	FGFR2	2263	HP:0002119	Ventriculomegaly
OMIM:101200	FGFR2	2263	HP:0004487	Acrobrachycephaly
OMIM:101200	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:101200	FGFR2	2263	HP:0000365	Hearing impairment
OMIM:101200	FGFR2	2263	HP:0001629	Ventricular septal defect
OMIM:101200	FGFR2	2263	HP:0011800	Midface retrusion
OMIM:101200	FGFR2	2263	HP:0004397	Ectopic anus
OMIM:101200	FGFR2	2263	HP:0000244	Brachyturricephaly
OMIM:101200	FGFR2	2263	HP:0001355	Megalencephaly
OMIM:101200	FGFR2	2263	HP:0007343	Abnormal morphology of the limbic system
OMIM:101200	FGFR2	2263	HP:0000348	High forehead
OMIM:101200	FGFR2	2263	HP:0100702	Arachnoid cyst
OMIM:101200	FGFR2	2263	HP:0000389	Chronic otitis media
OMIM:101200	FGFR2	2263	HP:0000486	Strabismus
OMIM:101200	FGFR2	2263	HP:0000148	Vaginal atresia
OMIM:101200	FGFR2	2263	HP:0009642	Broad distal phalanx of the thumb
OMIM:101200	FGFR2	2263	HP:0000175	Cleft palate
OMIM:101200	FGFR2	2263	HP:0002021	Pyloric stenosis
OMIM:101200	FGFR2	2263	HP:0000337	Broad forehead
OMIM:101200	FGFR2	2263	HP:0005048	Synostosis of carpal bones
OMIM:101200	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:101200	FGFR2	2263	HP:0000189	Narrow palate
OMIM:612310	FIGLA	344018	HP:0000013	Hypoplasia of the uterus
OMIM:612310	FIGLA	344018	HP:0001470	Sex-limited autosomal dominant
OMIM:612310	FIGLA	344018	HP:0008209	Premature ovarian insufficiency
OMIM:616482	FGFR3	2261	HP:0000365	Hearing impairment
OMIM:616482	FGFR3	2261	HP:0003510	Severe short stature
OMIM:616482	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:616482	FGFR3	2261	HP:0010535	Sleep apnea
OMIM:616482	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:616482	FGFR3	2261	HP:0005280	Depressed nasal bridge
OMIM:616482	FGFR3	2261	HP:0001355	Megalencephaly
OMIM:616482	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:616482	FGFR3	2261	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616482	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
OMIM:616482	FGFR3	2261	HP:0002808	Kyphosis
OMIM:616482	FGFR3	2261	HP:0002871	Central apnea
OMIM:616482	FGFR3	2261	HP:0000388	Otitis media
OMIM:616482	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:616482	FGFR3	2261	HP:0011800	Midface retrusion
OMIM:616482	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:616482	FGFR3	2261	HP:0001250	Seizures
OMIM:616482	FGFR3	2261	HP:0008905	Rhizomelia
OMIM:616482	FGFR3	2261	HP:0000926	Platyspondyly
OMIM:616482	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:616482	FGFR3	2261	HP:0003027	Mesomelia
OMIM:616482	FGFR3	2261	HP:0000260	Wide anterior fontanel
ORPHA:169079	NHEJ1	79840	HP:0000414	Bulbous nose
ORPHA:169079	NHEJ1	79840	HP:0005403	Decrease in T cell count
ORPHA:169079	NHEJ1	79840	HP:0004313	Decreased antibody level in blood
ORPHA:169079	NHEJ1	79840	HP:0000320	Bird-like facies
ORPHA:169079	NHEJ1	79840	HP:0000340	Sloping forehead
ORPHA:169079	NHEJ1	79840	HP:0000252	Microcephaly
ORPHA:169079	NHEJ1	79840	HP:0010976	B lymphocytopenia
ORPHA:169079	NHEJ1	79840	HP:0001873	Thrombocytopenia
ORPHA:169079	NHEJ1	79840	HP:0001903	Anemia
ORPHA:169079	NHEJ1	79840	HP:0001510	Growth delay
ORPHA:169079	NHEJ1	79840	HP:0000444	Convex nasal ridge
OMIM:174500	LMBR1	64327	HP:0001159	Syndactyly
OMIM:174500	LMBR1	64327	HP:0010066	Duplication of phalanx of hallux
OMIM:174500	LMBR1	64327	HP:0009942	Duplication of thumb phalanx
OMIM:174500	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:174500	LMBR1	64327	HP:0001830	Postaxial foot polydactyly
OMIM:174500	LMBR1	64327	HP:0005866	Opposable triphalangeal thumb
OMIM:174500	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
OMIM:174500	LMBR1	64327	HP:0001162	Postaxial hand polydactyly
OMIM:174500	LMBR1	64327	HP:0009606	Complete duplication of distal phalanx of the thumb
OMIM:174500	LMBR1	64327	HP:0001841	Preaxial foot polydactyly
OMIM:230740	ANTXR1	84168	HP:0001006	Hypotrichosis
OMIM:230740	ANTXR1	84168	HP:0005576	Tubulointerstitial fibrosis
OMIM:230740	ANTXR1	84168	HP:0000706	Unerupted tooth
OMIM:230740	ANTXR1	84168	HP:0001596	Alopecia
OMIM:230740	ANTXR1	84168	HP:0001510	Growth delay
OMIM:230740	ANTXR1	84168	HP:0000179	Thick lower lip vermilion
OMIM:230740	ANTXR1	84168	HP:0002750	Delayed skeletal maturation
OMIM:230740	ANTXR1	84168	HP:0000411	Protruding ear
OMIM:230740	ANTXR1	84168	HP:0002557	Hypoplastic nipples
OMIM:230740	ANTXR1	84168	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:230740	ANTXR1	84168	HP:0000563	Keratoconus
OMIM:230740	ANTXR1	84168	HP:0000639	Nystagmus
OMIM:230740	ANTXR1	84168	HP:0000347	Micrognathia
OMIM:230740	ANTXR1	84168	HP:0002007	Frontal bossing
OMIM:230740	ANTXR1	84168	HP:0000260	Wide anterior fontanel
OMIM:230740	ANTXR1	84168	HP:0000270	Delayed cranial suture closure
OMIM:230740	ANTXR1	84168	HP:0003187	Breast hypoplasia
OMIM:230740	ANTXR1	84168	HP:0000501	Glaucoma
OMIM:230740	ANTXR1	84168	HP:0000648	Optic atrophy
OMIM:230740	ANTXR1	84168	HP:0005280	Depressed nasal bridge
OMIM:230740	ANTXR1	84168	HP:0001537	Umbilical hernia
OMIM:230740	ANTXR1	84168	HP:0000007	Autosomal recessive inheritance
OMIM:230740	ANTXR1	84168	HP:0001043	Prominent scalp veins
ORPHA:324703	APP	351	HP:0001259	Coma
ORPHA:324703	APP	351	HP:0003474	Sensory impairment
ORPHA:324703	APP	351	HP:0002076	Migraine
ORPHA:324703	APP	351	HP:0000726	Dementia
ORPHA:324703	APP	351	HP:0001297	Stroke
ORPHA:324703	APP	351	HP:0003401	Paresthesia
ORPHA:324703	APP	351	HP:0001249	Intellectual disability
ORPHA:324703	APP	351	HP:0000708	Behavioral abnormality
ORPHA:324703	APP	351	HP:0001342	Cerebral hemorrhage
ORPHA:324703	APP	351	HP:0001263	Global developmental delay
OMIM:615842	ZMYND15	84225	HP:0000007	Autosomal recessive inheritance
OMIM:615842	ZMYND15	84225	HP:0000027	Azoospermia
OMIM:616734	MAPRE2	10982	HP:0000160	Narrow mouth
OMIM:616734	MAPRE2	10982	HP:0000750	Delayed speech and language development
OMIM:616734	MAPRE2	10982	HP:0000670	Carious teeth
OMIM:616734	MAPRE2	10982	HP:0000028	Cryptorchidism
OMIM:616734	MAPRE2	10982	HP:0000358	Posteriorly rotated ears
OMIM:616734	MAPRE2	10982	HP:0001270	Motor delay
OMIM:616734	MAPRE2	10982	HP:0000347	Micrognathia
OMIM:616734	MAPRE2	10982	HP:0000470	Short neck
OMIM:616734	MAPRE2	10982	HP:0001250	Seizures
OMIM:616734	MAPRE2	10982	HP:0000047	Hypospadias
OMIM:616734	MAPRE2	10982	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616734	MAPRE2	10982	HP:0012745	Short palpebral fissure
OMIM:616734	MAPRE2	10982	HP:0000494	Downslanted palpebral fissures
OMIM:616734	MAPRE2	10982	HP:0000475	Broad neck
OMIM:616734	MAPRE2	10982	HP:0000369	Low-set ears
OMIM:616734	MAPRE2	10982	HP:0000175	Cleft palate
OMIM:616734	MAPRE2	10982	HP:0001290	Generalized hypotonia
OMIM:616734	MAPRE2	10982	HP:0000046	Scrotal hypoplasia
OMIM:616734	MAPRE2	10982	HP:0000582	Upslanted palpebral fissure
OMIM:616734	MAPRE2	10982	HP:0000568	Microphthalmia
OMIM:616734	MAPRE2	10982	HP:0000482	Microcornea
OMIM:616734	MAPRE2	10982	HP:0000006	Autosomal dominant inheritance
OMIM:616734	MAPRE2	10982	HP:0000286	Epicanthus
OMIM:616734	MAPRE2	10982	HP:0008551	Microtia
OMIM:616734	MAPRE2	10982	HP:0012368	Flat face
OMIM:278700	XPA	7507	HP:0001009	Telangiectasia
OMIM:278700	XPA	7507	HP:0001257	Spasticity
OMIM:278700	XPA	7507	HP:0000407	Sensorineural hearing impairment
OMIM:278700	XPA	7507	HP:0001029	Poikiloderma
OMIM:278700	XPA	7507	HP:0000509	Conjunctivitis
OMIM:278700	XPA	7507	HP:0000621	Entropion
OMIM:278700	XPA	7507	HP:0001266	Choreoathetosis
OMIM:278700	XPA	7507	HP:0000992	Cutaneous photosensitivity
OMIM:278700	XPA	7507	HP:0001249	Intellectual disability
OMIM:278700	XPA	7507	HP:0000007	Autosomal recessive inheritance
OMIM:278700	XPA	7507	HP:0001265	Hyporeflexia
OMIM:278700	XPA	7507	HP:0001268	Mental deterioration
OMIM:278700	XPA	7507	HP:0004334	Dermal atrophy
OMIM:278700	XPA	7507	HP:0000613	Photophobia
OMIM:278700	XPA	7507	HP:0003079	Defective DNA repair after ultraviolet radiation damage
OMIM:278700	XPA	7507	HP:0000252	Microcephaly
OMIM:278700	XPA	7507	HP:0001251	Ataxia
OMIM:278700	XPA	7507	HP:0000491	Keratitis
OMIM:278700	XPA	7507	HP:0000656	Ectropion
OMIM:606996	NPHP4	261734	HP:0001903	Anemia
OMIM:606996	NPHP4	261734	HP:0000510	Rod-cone dystrophy
OMIM:606996	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:606996	NPHP4	261734	HP:0001959	Polydipsia
OMIM:606996	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:606996	NPHP4	261734	HP:0001141	Severe visual impairment
OMIM:606996	NPHP4	261734	HP:0001583	Rotary nystagmus
OMIM:606996	NPHP4	261734	HP:0000646	Amblyopia
OMIM:606996	NPHP4	261734	HP:0001425	Heterogeneous
OMIM:606996	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	NPHP4	261734	HP:0000103	Polyuria
OMIM:600852	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:221820	CSF1R	1436	HP:0000006	Autosomal dominant inheritance
OMIM:221820	CSF1R	1436	HP:0002500	Abnormality of the cerebral white matter
OMIM:221820	CSF1R	1436	HP:0007305	CNS demyelination
OMIM:221820	CSF1R	1436	HP:0000727	Frontal lobe dementia
OMIM:221820	CSF1R	1436	HP:0001257	Spasticity
OMIM:221820	CSF1R	1436	HP:0003678	Rapidly progressive
OMIM:221820	CSF1R	1436	HP:0002067	Bradykinesia
OMIM:221820	CSF1R	1436	HP:0002063	Rigidity
OMIM:221820	CSF1R	1436	HP:0002186	Apraxia
OMIM:221820	CSF1R	1436	HP:0000716	Depressivity
OMIM:221820	CSF1R	1436	HP:0003581	Adult onset
OMIM:221820	CSF1R	1436	HP:0001347	Hyperreflexia
OMIM:221820	CSF1R	1436	HP:0002172	Postural instability
OMIM:221820	CSF1R	1436	HP:0002300	Mutism
OMIM:221820	CSF1R	1436	HP:0002354	Memory impairment
OMIM:221820	CSF1R	1436	HP:0002529	Neuronal loss in central nervous system
OMIM:221820	CSF1R	1436	HP:0002362	Shuffling gait
OMIM:221820	CSF1R	1436	HP:0002352	Leukoencephalopathy
OMIM:221820	CSF1R	1436	HP:0002171	Gliosis
OMIM:615034	ANO3	63982	HP:0002346	Head tremor
OMIM:615034	ANO3	63982	HP:0003829	Incomplete penetrance
OMIM:615034	ANO3	63982	HP:0000006	Autosomal dominant inheritance
OMIM:615034	ANO3	63982	HP:0000473	Torticollis
OMIM:167000	CDH1	999	HP:0100621	Dysgerminoma
OMIM:167000	CDH1	999	HP:0006774	Ovarian papillary adenocarcinoma
OMIM:167000	CDH1	999	HP:0000006	Autosomal dominant inheritance
OMIM:167000	CDH1	999	HP:0003002	Breast carcinoma
OMIM:167000	CDH1	999	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	PIK3CA	5290	HP:0100621	Dysgerminoma
OMIM:167000	PIK3CA	5290	HP:0006774	Ovarian papillary adenocarcinoma
OMIM:167000	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:167000	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:167000	PIK3CA	5290	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	CTNNB1	1499	HP:0100621	Dysgerminoma
OMIM:167000	CTNNB1	1499	HP:0006774	Ovarian papillary adenocarcinoma
OMIM:167000	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:167000	CTNNB1	1499	HP:0003002	Breast carcinoma
OMIM:167000	CTNNB1	1499	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	AKT1	207	HP:0100621	Dysgerminoma
OMIM:167000	AKT1	207	HP:0006774	Ovarian papillary adenocarcinoma
OMIM:167000	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:167000	AKT1	207	HP:0003002	Breast carcinoma
OMIM:167000	AKT1	207	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	PRKN	5071	HP:0100621	Dysgerminoma
OMIM:167000	PRKN	5071	HP:0006774	Ovarian papillary adenocarcinoma
OMIM:167000	PRKN	5071	HP:0000006	Autosomal dominant inheritance
OMIM:167000	PRKN	5071	HP:0003002	Breast carcinoma
OMIM:167000	PRKN	5071	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:744	PTEN	5728	HP:0001482	Subcutaneous nodule
ORPHA:744	PTEN	5728	HP:0100560	Upper limb asymmetry
ORPHA:744	PTEN	5728	HP:0004326	Cachexia
ORPHA:744	PTEN	5728	HP:0005595	Generalized hyperkeratosis
ORPHA:744	PTEN	5728	HP:0000268	Dolichocephaly
ORPHA:744	PTEN	5728	HP:0100026	Arteriovenous malformation
ORPHA:744	PTEN	5728	HP:0004490	Calvarial hyperostosis
ORPHA:744	PTEN	5728	HP:0001004	Lymphedema
ORPHA:744	PTEN	5728	HP:0004418	Thrombophlebitis
ORPHA:744	PTEN	5728	HP:0002808	Kyphosis
ORPHA:744	PTEN	5728	HP:0006101	Finger syndactyly
ORPHA:744	PTEN	5728	HP:0007400	Irregular hyperpigmentation
ORPHA:744	PTEN	5728	HP:0002652	Skeletal dysplasia
ORPHA:744	PTEN	5728	HP:0007565	Multiple cafe-au-lait spots
ORPHA:744	PTEN	5728	HP:0010816	Epidermal nevus
ORPHA:744	PTEN	5728	HP:0000400	Macrotia
ORPHA:744	PTEN	5728	HP:0002101	Abnormal lung lobation
ORPHA:744	PTEN	5728	HP:0011276	Vascular skin abnormality
ORPHA:744	PTEN	5728	HP:0004099	Macrodactyly
ORPHA:744	PTEN	5728	HP:0100761	Visceral angiomatosis
ORPHA:744	PTEN	5728	HP:0012032	Lipoma
ORPHA:744	PTEN	5728	HP:0001555	Asymmetry of the thorax
ORPHA:744	PTEN	5728	HP:0100559	Lower limb asymmetry
ORPHA:744	PTEN	5728	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:744	PTEN	5728	HP:0007552	Abnormal subcutaneous fat tissue distribution
ORPHA:744	PTEN	5728	HP:0001519	Disproportionate tall stature
ORPHA:744	PTEN	5728	HP:0100730	Bronchogenic cyst
ORPHA:744	PTEN	5728	HP:0100764	Lymphangioma
ORPHA:744	PTEN	5728	HP:0002650	Scoliosis
ORPHA:744	PTEN	5728	HP:0005306	Capillary hemangiomas
ORPHA:744	PTEN	5728	HP:0000995	Melanocytic nevus
ORPHA:744	PTEN	5728	HP:0000316	Hypertelorism
ORPHA:744	PTEN	5728	HP:0000311	Round face
ORPHA:744	PTEN	5728	HP:0003199	Decreased muscle mass
ORPHA:744	PTEN	5728	HP:0002204	Pulmonary embolism
ORPHA:744	AKT1	207	HP:0001482	Subcutaneous nodule
ORPHA:744	AKT1	207	HP:0100560	Upper limb asymmetry
ORPHA:744	AKT1	207	HP:0004326	Cachexia
ORPHA:744	AKT1	207	HP:0005595	Generalized hyperkeratosis
ORPHA:744	AKT1	207	HP:0000268	Dolichocephaly
ORPHA:744	AKT1	207	HP:0100026	Arteriovenous malformation
ORPHA:744	AKT1	207	HP:0004490	Calvarial hyperostosis
ORPHA:744	AKT1	207	HP:0001004	Lymphedema
ORPHA:744	AKT1	207	HP:0004418	Thrombophlebitis
ORPHA:744	AKT1	207	HP:0002808	Kyphosis
ORPHA:744	AKT1	207	HP:0006101	Finger syndactyly
ORPHA:744	AKT1	207	HP:0007400	Irregular hyperpigmentation
ORPHA:744	AKT1	207	HP:0002652	Skeletal dysplasia
ORPHA:744	AKT1	207	HP:0007565	Multiple cafe-au-lait spots
ORPHA:744	AKT1	207	HP:0010816	Epidermal nevus
ORPHA:744	AKT1	207	HP:0000400	Macrotia
ORPHA:744	AKT1	207	HP:0002101	Abnormal lung lobation
ORPHA:744	AKT1	207	HP:0011276	Vascular skin abnormality
ORPHA:744	AKT1	207	HP:0004099	Macrodactyly
ORPHA:744	AKT1	207	HP:0100761	Visceral angiomatosis
ORPHA:744	AKT1	207	HP:0012032	Lipoma
ORPHA:744	AKT1	207	HP:0001555	Asymmetry of the thorax
ORPHA:744	AKT1	207	HP:0100559	Lower limb asymmetry
ORPHA:744	AKT1	207	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:744	AKT1	207	HP:0007552	Abnormal subcutaneous fat tissue distribution
ORPHA:744	AKT1	207	HP:0001519	Disproportionate tall stature
ORPHA:744	AKT1	207	HP:0100730	Bronchogenic cyst
ORPHA:744	AKT1	207	HP:0100764	Lymphangioma
ORPHA:744	AKT1	207	HP:0002650	Scoliosis
ORPHA:744	AKT1	207	HP:0005306	Capillary hemangiomas
ORPHA:744	AKT1	207	HP:0000995	Melanocytic nevus
ORPHA:744	AKT1	207	HP:0000316	Hypertelorism
ORPHA:744	AKT1	207	HP:0000311	Round face
ORPHA:744	AKT1	207	HP:0003199	Decreased muscle mass
ORPHA:744	AKT1	207	HP:0002204	Pulmonary embolism
OMIM:166220	COL1A1	1277	HP:0000362	Otosclerosis
OMIM:166220	COL1A1	1277	HP:0002650	Scoliosis
OMIM:166220	COL1A1	1277	HP:0004349	Reduced bone mineral density
OMIM:166220	COL1A1	1277	HP:0005005	Femoral bowing present at birth, straightening with time
OMIM:166220	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166220	COL1A1	1277	HP:0002808	Kyphosis
OMIM:166220	COL1A1	1277	HP:0003023	Bowing of limbs due to multiple fractures
OMIM:166220	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:166220	COL1A1	1277	HP:0003321	Biconcave flattened vertebrae
OMIM:166220	COL1A1	1277	HP:0000703	Dentinogenesis imperfecta
OMIM:166220	COL1A1	1277	HP:0004322	Short stature
OMIM:166220	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166220	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166220	COL1A2	1278	HP:0000362	Otosclerosis
OMIM:166220	COL1A2	1278	HP:0002650	Scoliosis
OMIM:166220	COL1A2	1278	HP:0004349	Reduced bone mineral density
OMIM:166220	COL1A2	1278	HP:0005005	Femoral bowing present at birth, straightening with time
OMIM:166220	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:166220	COL1A2	1278	HP:0002808	Kyphosis
OMIM:166220	COL1A2	1278	HP:0003023	Bowing of limbs due to multiple fractures
OMIM:166220	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:166220	COL1A2	1278	HP:0003321	Biconcave flattened vertebrae
OMIM:166220	COL1A2	1278	HP:0000703	Dentinogenesis imperfecta
OMIM:166220	COL1A2	1278	HP:0004322	Short stature
OMIM:166220	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166220	COL1A2	1278	HP:0002645	Wormian bones
OMIM:616683	VPS11	55823	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616683	VPS11	55823	HP:0002465	Poor speech
OMIM:616683	VPS11	55823	HP:0100704	Cortical visual impairment
OMIM:616683	VPS11	55823	HP:0007663	Reduced visual acuity
OMIM:616683	VPS11	55823	HP:0011344	Severe global developmental delay
OMIM:616683	VPS11	55823	HP:0007281	Developmental stagnation
OMIM:616683	VPS11	55823	HP:0002459	Dysautonomia
OMIM:616683	VPS11	55823	HP:0001257	Spasticity
OMIM:616683	VPS11	55823	HP:0000365	Hearing impairment
OMIM:616683	VPS11	55823	HP:0002019	Constipation
OMIM:616683	VPS11	55823	HP:0005968	Temperature instability
OMIM:616683	VPS11	55823	HP:0000648	Optic atrophy
OMIM:616683	VPS11	55823	HP:0001371	Flexion contracture
OMIM:616683	VPS11	55823	HP:0005484	Postnatal microcephaly
OMIM:616683	VPS11	55823	HP:0002119	Ventriculomegaly
OMIM:616683	VPS11	55823	HP:0000011	Neurogenic bladder
OMIM:616683	VPS11	55823	HP:0001249	Intellectual disability
OMIM:616683	VPS11	55823	HP:0001344	Absent speech
OMIM:616683	VPS11	55823	HP:0012448	Delayed myelination
OMIM:616683	VPS11	55823	HP:0011398	Central hypotonia
OMIM:616683	VPS11	55823	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616683	VPS11	55823	HP:0006808	Cerebral hypomyelination
OMIM:616683	VPS11	55823	HP:0000007	Autosomal recessive inheritance
OMIM:616683	VPS11	55823	HP:0008936	Muscular hypotonia of the trunk
OMIM:616683	VPS11	55823	HP:0001272	Cerebellar atrophy
OMIM:603563	WASHC5	9897	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:603563	WASHC5	9897	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:603563	WASHC5	9897	HP:0000012	Urinary urgency
OMIM:603563	WASHC5	9897	HP:0001258	Spastic paraplegia
OMIM:603563	WASHC5	9897	HP:0001761	Pes cavus
OMIM:603563	WASHC5	9897	HP:0007340	Lower limb muscle weakness
OMIM:603563	WASHC5	9897	HP:0000020	Urinary incontinence
OMIM:603563	WASHC5	9897	HP:0001347	Hyperreflexia
OMIM:603563	WASHC5	9897	HP:0003581	Adult onset
OMIM:603563	WASHC5	9897	HP:0003587	Insidious onset
OMIM:603563	WASHC5	9897	HP:0002064	Spastic gait
OMIM:603563	WASHC5	9897	HP:0003676	Progressive
OMIM:603563	WASHC5	9897	HP:0000006	Autosomal dominant inheritance
OMIM:603563	WASHC5	9897	HP:0002061	Lower limb spasticity
OMIM:603563	WASHC5	9897	HP:0003487	Babinski sign
OMIM:603563	WASHC5	9897	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:273395	WNT3	7473	HP:0002023	Anal atresia
OMIM:273395	WNT3	7473	HP:0003057	Tetraamelia
OMIM:273395	WNT3	7473	HP:0000042	Absent external genitalia
OMIM:273395	WNT3	7473	HP:0001195	Single umbilical artery
OMIM:273395	WNT3	7473	HP:0001746	Asplenia
OMIM:273395	WNT3	7473	HP:0000007	Autosomal recessive inheritance
OMIM:273395	WNT3	7473	HP:0009932	Single naris
OMIM:273395	WNT3	7473	HP:0000518	Cataract
OMIM:273395	WNT3	7473	HP:0000369	Low-set ears
OMIM:273395	WNT3	7473	HP:0000204	Cleft upper lip
OMIM:273395	WNT3	7473	HP:0000068	Urethral atresia
OMIM:273395	WNT3	7473	HP:0005316	Peripheral pulmonary vessel aplasia
OMIM:273395	WNT3	7473	HP:0000453	Choanal atresia
OMIM:273395	WNT3	7473	HP:0002089	Pulmonary hypoplasia
OMIM:273395	WNT3	7473	HP:0001425	Heterogeneous
OMIM:273395	WNT3	7473	HP:0000347	Micrognathia
OMIM:273395	WNT3	7473	HP:0011743	Adrenal gland agenesis
OMIM:273395	WNT3	7473	HP:0000104	Renal agenesis
OMIM:273395	WNT3	7473	HP:0000568	Microphthalmia
OMIM:273395	WNT3	7473	HP:0000238	Hydrocephalus
OMIM:273395	WNT3	7473	HP:0008839	Hypoplastic pelvis
OMIM:273395	WNT3	7473	HP:0000175	Cleft palate
OMIM:273395	WNT3	7473	HP:0000775	Abnormality of the diaphragm
OMIM:273395	WNT3	7473	HP:0001543	Gastroschisis
OMIM:273395	WNT3	7473	HP:0008697	Hypoplasia of the fallopian tube
OMIM:273395	WNT3	7473	HP:0000148	Vaginal atresia
OMIM:121820	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:121820	TGFBI	7045	HP:0000495	Recurrent corneal erosions
OMIM:121820	TGFBI	7045	HP:0007690	Map-dot-fingerprint corneal dystrophy
OMIM:121820	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:237450	SLCO1B1	10599	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237450	SLCO1B1	10599	HP:0000952	Jaundice
OMIM:237450	SLCO1B1	10599	HP:0000007	Autosomal recessive inheritance
OMIM:237450	SLCO1B1	10599	HP:0001000	Abnormality of skin pigmentation
OMIM:237450	SLCO1B1	10599	HP:0000924	Abnormality of the skeletal system
OMIM:237450	SLCO1B3	28234	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237450	SLCO1B3	28234	HP:0000952	Jaundice
OMIM:237450	SLCO1B3	28234	HP:0000007	Autosomal recessive inheritance
OMIM:237450	SLCO1B3	28234	HP:0001000	Abnormality of skin pigmentation
OMIM:237450	SLCO1B3	28234	HP:0000924	Abnormality of the skeletal system
OMIM:609646	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ILDR1	286676	HP:0003680	Nonprogressive
OMIM:609646	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ILDR1	286676	HP:0003593	Infantile onset
OMIM:611431	SPRED1	161742	HP:0002705	High, narrow palate
OMIM:611431	SPRED1	161742	HP:0000494	Downslanted palpebral fissures
OMIM:611431	SPRED1	161742	HP:0000256	Macrocephaly
OMIM:611431	SPRED1	161742	HP:0001067	Neurofibromas
OMIM:611431	SPRED1	161742	HP:0000470	Short neck
OMIM:611431	SPRED1	161742	HP:0000957	Cafe-au-lait spot
OMIM:611431	SPRED1	161742	HP:0000368	Low-set, posteriorly rotated ears
OMIM:611431	SPRED1	161742	HP:0001290	Generalized hypotonia
OMIM:611431	SPRED1	161742	HP:0001012	Multiple lipomas
OMIM:611431	SPRED1	161742	HP:0000316	Hypertelorism
OMIM:611431	SPRED1	161742	HP:0002162	Low posterior hairline
OMIM:611431	SPRED1	161742	HP:0000997	Axillary freckling
OMIM:611431	SPRED1	161742	HP:0000006	Autosomal dominant inheritance
OMIM:611431	SPRED1	161742	HP:0000286	Epicanthus
OMIM:611431	SPRED1	161742	HP:0000325	Triangular face
OMIM:611431	SPRED1	161742	HP:0000347	Micrognathia
OMIM:611431	SPRED1	161742	HP:0007018	Attention deficit hyperactivity disorder
OMIM:611431	SPRED1	161742	HP:0001328	Specific learning disability
OMIM:611431	SPRED1	161742	HP:0000508	Ptosis
OMIM:614851	NIN	51199	HP:0000007	Autosomal recessive inheritance
OMIM:614851	NIN	51199	HP:0000786	Primary amenorrhea
OMIM:614851	NIN	51199	HP:0000013	Hypoplasia of the uterus
OMIM:614851	NIN	51199	HP:0001385	Hip dysplasia
OMIM:614851	NIN	51199	HP:0003067	Madelung deformity
OMIM:614851	NIN	51199	HP:0004626	Lumbar scoliosis
OMIM:614851	NIN	51199	HP:0008551	Microtia
OMIM:614851	NIN	51199	HP:0011787	Central hypothyroidism
OMIM:614851	NIN	51199	HP:0011344	Severe global developmental delay
OMIM:614851	NIN	51199	HP:0000448	Prominent nose
OMIM:614851	NIN	51199	HP:0000252	Microcephaly
OMIM:614851	NIN	51199	HP:0003510	Severe short stature
OMIM:614851	NIN	51199	HP:0001511	Intrauterine growth retardation
OMIM:614851	NIN	51199	HP:0002750	Delayed skeletal maturation
OMIM:614851	NIN	51199	HP:0001250	Seizures
OMIM:614851	NIN	51199	HP:0010864	Intellectual disability, severe
OMIM:614851	NIN	51199	HP:0000601	Hypotelorism
OMIM:312300	AR	367	HP:0000027	Azoospermia
OMIM:312300	AR	367	HP:0000771	Gynecomastia
OMIM:312300	AR	367	HP:0000048	Bifid scrotum
OMIM:312300	AR	367	HP:0000037	Male pseudohermaphroditism
OMIM:312300	AR	367	HP:0000789	Infertility
OMIM:312300	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:312300	AR	367	HP:0000028	Cryptorchidism
OMIM:312300	AR	367	HP:0000135	Hypogonadism
OMIM:312300	AR	367	HP:0012873	Absent vas deferens
OMIM:312300	AR	367	HP:0000054	Micropenis
OMIM:312300	AR	367	HP:0001547	Abnormality of the rib cage
OMIM:312300	AR	367	HP:0000047	Hypospadias
ORPHA:280397	PRNP	5621	HP:0000716	Depressivity
ORPHA:280397	PRNP	5621	HP:0011458	Abdominal symptom
ORPHA:280397	PRNP	5621	HP:0000712	Emotional lability
ORPHA:280397	PRNP	5621	HP:0001328	Specific learning disability
ORPHA:280397	PRNP	5621	HP:0002549	Deficit in phonologic short-term memory
ORPHA:280397	PRNP	5621	HP:0002360	Sleep disturbance
ORPHA:280397	PRNP	5621	HP:0030223	Perseveration
ORPHA:280397	PRNP	5621	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:280397	PRNP	5621	HP:0040264	Jaw pain
ORPHA:280397	PRNP	5621	HP:0000739	Anxiety
OMIM:114480	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:114480	BRCA1	672	HP:0003002	Breast carcinoma
OMIM:114480	BRCA1	672	HP:0001425	Heterogeneous
OMIM:114480	TSG101	7251	HP:0000006	Autosomal dominant inheritance
OMIM:114480	TSG101	7251	HP:0003002	Breast carcinoma
OMIM:114480	TSG101	7251	HP:0001425	Heterogeneous
OMIM:114480	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:114480	KRAS	3845	HP:0003002	Breast carcinoma
OMIM:114480	KRAS	3845	HP:0001425	Heterogeneous
OMIM:114480	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:114480	TP53	7157	HP:0003002	Breast carcinoma
OMIM:114480	TP53	7157	HP:0001425	Heterogeneous
OMIM:114480	BRIP1	83990	HP:0000006	Autosomal dominant inheritance
OMIM:114480	BRIP1	83990	HP:0003002	Breast carcinoma
OMIM:114480	BRIP1	83990	HP:0001425	Heterogeneous
OMIM:114480	SLC22A18	5002	HP:0000006	Autosomal dominant inheritance
OMIM:114480	SLC22A18	5002	HP:0003002	Breast carcinoma
OMIM:114480	SLC22A18	5002	HP:0001425	Heterogeneous
OMIM:114480	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:114480	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:114480	PIK3CA	5290	HP:0001425	Heterogeneous
OMIM:114480	PPM1D	8493	HP:0000006	Autosomal dominant inheritance
OMIM:114480	PPM1D	8493	HP:0003002	Breast carcinoma
OMIM:114480	PPM1D	8493	HP:0001425	Heterogeneous
OMIM:114480	RB1CC1	9821	HP:0000006	Autosomal dominant inheritance
OMIM:114480	RB1CC1	9821	HP:0003002	Breast carcinoma
OMIM:114480	RB1CC1	9821	HP:0001425	Heterogeneous
OMIM:114480	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:114480	AKT1	207	HP:0003002	Breast carcinoma
OMIM:114480	AKT1	207	HP:0001425	Heterogeneous
OMIM:613375	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:613375	BLK	640	HP:0004904	Maturity-onset diabetes of the young
OMIM:613375	BLK	640	HP:0001513	Obesity
OMIM:613375	BLK	640	HP:0025502	Overweight
OMIM:600143	CLN8	2055	HP:0001250	Seizures
OMIM:600143	CLN8	2055	HP:0001272	Cerebellar atrophy
OMIM:600143	CLN8	2055	HP:0000529	Progressive visual loss
OMIM:600143	CLN8	2055	HP:0000007	Autosomal recessive inheritance
OMIM:600143	CLN8	2055	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:600143	CLN8	2055	HP:0001336	Myoclonus
OMIM:600143	CLN8	2055	HP:0002353	EEG abnormality
OMIM:600143	CLN8	2055	HP:0001251	Ataxia
OMIM:600143	CLN8	2055	HP:0002376	Developmental regression
OMIM:600143	CLN8	2055	HP:0000750	Delayed speech and language development
OMIM:600143	CLN8	2055	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:600143	CLN8	2055	HP:0002059	Cerebral atrophy
OMIM:189960	FANCC	2176	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCC	2176	HP:0002032	Esophageal atresia
OMIM:189960	FANCD2	2177	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCD2	2177	HP:0002032	Esophageal atresia
OMIM:189960	FANCM	57697	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCM	57697	HP:0002032	Esophageal atresia
OMIM:189960	RAD51C	5889	HP:0002575	Tracheoesophageal fistula
OMIM:189960	RAD51C	5889	HP:0002032	Esophageal atresia
OMIM:189960	SOX2	6657	HP:0002575	Tracheoesophageal fistula
OMIM:189960	SOX2	6657	HP:0002032	Esophageal atresia
OMIM:189960	FANCE	2178	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCE	2178	HP:0002032	Esophageal atresia
OMIM:189960	BRCA2	675	HP:0002575	Tracheoesophageal fistula
OMIM:189960	BRCA2	675	HP:0002032	Esophageal atresia
OMIM:189960	MYCN	4613	HP:0002575	Tracheoesophageal fistula
OMIM:189960	MYCN	4613	HP:0002032	Esophageal atresia
OMIM:189960	FANCB	2187	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCB	2187	HP:0002032	Esophageal atresia
OMIM:189960	FANCF	2188	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCF	2188	HP:0002032	Esophageal atresia
OMIM:189960	FANCG	2189	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCG	2189	HP:0002032	Esophageal atresia
OMIM:189960	FANCI	55215	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCI	55215	HP:0002032	Esophageal atresia
OMIM:189960	FANCL	55120	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCL	55120	HP:0002032	Esophageal atresia
OMIM:189960	GLI3	2737	HP:0002575	Tracheoesophageal fistula
OMIM:189960	GLI3	2737	HP:0002032	Esophageal atresia
OMIM:189960	PALB2	79728	HP:0002575	Tracheoesophageal fistula
OMIM:189960	PALB2	79728	HP:0002032	Esophageal atresia
OMIM:189960	SLX4	84464	HP:0002575	Tracheoesophageal fistula
OMIM:189960	SLX4	84464	HP:0002032	Esophageal atresia
OMIM:189960	CHD7	55636	HP:0002575	Tracheoesophageal fistula
OMIM:189960	CHD7	55636	HP:0002032	Esophageal atresia
OMIM:189960	BRIP1	83990	HP:0002575	Tracheoesophageal fistula
OMIM:189960	BRIP1	83990	HP:0002032	Esophageal atresia
OMIM:189960	ERCC4	2072	HP:0002575	Tracheoesophageal fistula
OMIM:189960	ERCC4	2072	HP:0002032	Esophageal atresia
OMIM:189960	MID1	4281	HP:0002575	Tracheoesophageal fistula
OMIM:189960	MID1	4281	HP:0002032	Esophageal atresia
OMIM:189960	FANCA	2175	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCA	2175	HP:0002032	Esophageal atresia
ORPHA:1306	LEMD3	23592	HP:0100324	Scleroderma
ORPHA:1306	LEMD3	23592	HP:0010739	Osteopoikilosis
ORPHA:1306	LEMD3	23592	HP:0005789	Generalized osteosclerosis
ORPHA:1306	LEMD3	23592	HP:0002652	Skeletal dysplasia
ORPHA:1306	LEMD3	23592	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1306	LEMD3	23592	HP:0007513	Generalized hypopigmentation
ORPHA:1306	LEMD3	23592	HP:0100898	Connective tissue nevi
ORPHA:1306	LEMD3	23592	HP:0100774	Hyperostosis
ORPHA:1306	LEMD3	23592	HP:0005469	Flat occiput
ORPHA:1306	LEMD3	23592	HP:0200034	Papule
ORPHA:1306	LEMD3	23592	HP:0004322	Short stature
ORPHA:1306	LEMD3	23592	HP:0001371	Flexion contracture
ORPHA:1306	LEMD3	23592	HP:0002653	Bone pain
ORPHA:1306	LEMD3	23592	HP:0001387	Joint stiffness
ORPHA:1306	LEMD3	23592	HP:0000944	Abnormality of the metaphysis
ORPHA:1306	LEMD3	23592	HP:0001482	Subcutaneous nodule
OMIM:614819	LTBP2	4053	HP:0000545	Myopia
OMIM:614819	LTBP2	4053	HP:0001387	Joint stiffness
OMIM:614819	LTBP2	4053	HP:0001642	Pulmonic stenosis
OMIM:614819	LTBP2	4053	HP:0004322	Short stature
OMIM:614819	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:614819	LTBP2	4053	HP:0030961	Microspherophakia
OMIM:614819	LTBP2	4053	HP:0001156	Brachydactyly
OMIM:614819	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:614819	LTBP2	4053	HP:0007906	Increased intraocular pressure
OMIM:614819	LTBP2	4053	HP:0001650	Aortic valve stenosis
OMIM:614819	LTBP2	4053	HP:0000594	Shallow anterior chamber
OMIM:168601	SNCA	6622	HP:0001332	Dystonia
OMIM:168601	SNCA	6622	HP:0002063	Rigidity
OMIM:168601	SNCA	6622	HP:0002067	Bradykinesia
OMIM:168601	SNCA	6622	HP:0000012	Urinary urgency
OMIM:168601	SNCA	6622	HP:0002360	Sleep disturbance
OMIM:168601	SNCA	6622	HP:0000716	Depressivity
OMIM:168601	SNCA	6622	HP:0001260	Dysarthria
OMIM:168601	SNCA	6622	HP:0002375	Hypokinesia
OMIM:168601	SNCA	6622	HP:0002362	Shuffling gait
OMIM:168601	SNCA	6622	HP:0001300	Parkinsonism
OMIM:168601	SNCA	6622	HP:0002015	Dysphagia
OMIM:168601	SNCA	6622	HP:0003587	Insidious onset
OMIM:168601	SNCA	6622	HP:0002322	Resting tremor
OMIM:168601	SNCA	6622	HP:0002172	Postural instability
OMIM:168601	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:168601	SNCA	6622	HP:0003676	Progressive
OMIM:168601	SNCA	6622	HP:0001336	Myoclonus
OMIM:168601	SNCA	6622	HP:0001268	Mental deterioration
OMIM:603860	UMOD	7369	HP:0008659	Multiple small medullary renal cysts
OMIM:612783	STIM1	6786	HP:0001252	Muscular hypotonia
OMIM:612783	STIM1	6786	HP:0000966	Hypohidrosis
OMIM:612783	STIM1	6786	HP:0001954	Episodic fever
OMIM:612783	STIM1	6786	HP:0001890	Autoimmune hemolytic anemia
OMIM:612783	STIM1	6786	HP:0002721	Immunodeficiency
OMIM:612783	STIM1	6786	HP:0000007	Autosomal recessive inheritance
OMIM:612783	STIM1	6786	HP:0002164	Nail dysplasia
OMIM:612783	STIM1	6786	HP:0001873	Thrombocytopenia
OMIM:612783	STIM1	6786	HP:0002716	Lymphadenopathy
OMIM:612783	STIM1	6786	HP:0003198	Myopathy
OMIM:612783	STIM1	6786	HP:0003828	Variable expressivity
OMIM:612783	STIM1	6786	HP:0002718	Recurrent bacterial infections
OMIM:612783	STIM1	6786	HP:0007676	Hypoplasia of the iris
OMIM:616322	CHRND	1144	HP:0003388	Easy fatigability
OMIM:616322	CHRND	1144	HP:0010628	Facial palsy
OMIM:616322	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616322	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616322	CHRND	1144	HP:0001319	Neonatal hypotonia
OMIM:616322	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:616322	CHRND	1144	HP:0003593	Infantile onset
OMIM:616322	CHRND	1144	HP:0000467	Neck muscle weakness
OMIM:616322	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616322	CHRND	1144	HP:0000218	High palate
OMIM:616322	CHRND	1144	HP:0000508	Ptosis
OMIM:616322	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:118210	KIF1B	23095	HP:0000006	Autosomal dominant inheritance
OMIM:118210	KIF1B	23095	HP:0003674	Onset
OMIM:118210	KIF1B	23095	HP:0003378	Axonal degeneration/regeneration
OMIM:118210	KIF1B	23095	HP:0003693	Distal amyotrophy
OMIM:118210	KIF1B	23095	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118210	KIF1B	23095	HP:0003383	Onion bulb formation
OMIM:118210	KIF1B	23095	HP:0001761	Pes cavus
OMIM:118210	KIF1B	23095	HP:0002936	Distal sensory impairment
OMIM:118210	KIF1B	23095	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118210	KIF1B	23095	HP:0001265	Hyporeflexia
OMIM:118210	KIF1B	23095	HP:0002460	Distal muscle weakness
OMIM:118210	KIF1B	23095	HP:0003376	Steppage gait
OMIM:118210	KIF1B	23095	HP:0009027	Foot dorsiflexor weakness
OMIM:118210	KIF1B	23095	HP:0001284	Areflexia
OMIM:118210	KIF1B	23095	HP:0001765	Hammertoe
OMIM:118210	KIF1B	23095	HP:0001425	Heterogeneous
OMIM:118210	KIF1B	23095	HP:0003384	Peripheral axonal atrophy
OMIM:118210	KIF1B	23095	HP:0003677	Slow progression
OMIM:617105	SLC1A2	6506	HP:0003623	Neonatal onset
OMIM:617105	SLC1A2	6506	HP:0200134	Epileptic encephalopathy
OMIM:617105	SLC1A2	6506	HP:0001263	Global developmental delay
OMIM:617105	SLC1A2	6506	HP:0002751	Kyphoscoliosis
OMIM:617105	SLC1A2	6506	HP:0002059	Cerebral atrophy
OMIM:617105	SLC1A2	6506	HP:0001290	Generalized hypotonia
OMIM:617105	SLC1A2	6506	HP:0000006	Autosomal dominant inheritance
OMIM:617105	SLC1A2	6506	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617105	SLC1A2	6506	HP:0001250	Seizures
OMIM:617105	SLC1A2	6506	HP:0001371	Flexion contracture
OMIM:617105	SLC1A2	6506	HP:0002187	Intellectual disability, profound
OMIM:613662	POLG	5428	HP:0003324	Generalized muscle weakness
OMIM:613662	POLG	5428	HP:0000590	Progressive external ophthalmoplegia
OMIM:613662	POLG	5428	HP:0003737	Mitochondrial myopathy
OMIM:613662	POLG	5428	HP:0003828	Variable expressivity
OMIM:613662	POLG	5428	HP:0002019	Constipation
OMIM:613662	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:613662	POLG	5428	HP:0003434	Sensory ataxic neuropathy
OMIM:613662	POLG	5428	HP:0003593	Infantile onset
OMIM:613662	POLG	5428	HP:0003676	Progressive
OMIM:613662	POLG	5428	HP:0003270	Abdominal distention
OMIM:613662	POLG	5428	HP:0001251	Ataxia
OMIM:613662	POLG	5428	HP:0002579	Gastrointestinal dysmotility
OMIM:613662	POLG	5428	HP:0002024	Malabsorption
OMIM:613662	POLG	5428	HP:0002027	Abdominal pain
OMIM:613662	POLG	5428	HP:0004395	Malnutrition
OMIM:613662	POLG	5428	HP:0001290	Generalized hypotonia
OMIM:613662	POLG	5428	HP:0004326	Cachexia
OMIM:128230	GCH1	2643	HP:0000473	Torticollis
OMIM:128230	GCH1	2643	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
OMIM:128230	GCH1	2643	HP:0001425	Heterogeneous
OMIM:128230	GCH1	2643	HP:0002356	Writer's cramp
OMIM:128230	GCH1	2643	HP:0001761	Pes cavus
OMIM:128230	GCH1	2643	HP:0011463	Childhood onset
OMIM:128230	GCH1	2643	HP:0002066	Gait ataxia
OMIM:128230	GCH1	2643	HP:0001347	Hyperreflexia
OMIM:128230	GCH1	2643	HP:0003812	Phenotypic variability
OMIM:128230	GCH1	2643	HP:0000006	Autosomal dominant inheritance
OMIM:128230	GCH1	2643	HP:0001300	Parkinsonism
OMIM:128230	GCH1	2643	HP:0002174	Postural tremor
OMIM:128230	GCH1	2643	HP:0003487	Babinski sign
OMIM:128230	GCH1	2643	HP:0002650	Scoliosis
OMIM:128230	GCH1	2643	HP:0008297	Transient hyperphenylalaninemia
OMIM:128230	GCH1	2643	HP:0001762	Talipes equinovarus
OMIM:206800	RSPO4	343637	HP:0001798	Anonychia
OMIM:206800	RSPO4	343637	HP:0000007	Autosomal recessive inheritance
OMIM:256731	CLN5	1203	HP:0000529	Progressive visual loss
OMIM:256731	CLN5	1203	HP:0001249	Intellectual disability
OMIM:256731	CLN5	1203	HP:0001336	Myoclonus
OMIM:256731	CLN5	1203	HP:0002376	Developmental regression
OMIM:256731	CLN5	1203	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:256731	CLN5	1203	HP:0002333	Motor deterioration
OMIM:256731	CLN5	1203	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:256731	CLN5	1203	HP:0002312	Clumsiness
OMIM:256731	CLN5	1203	HP:0000546	Retinal degeneration
OMIM:256731	CLN5	1203	HP:0001311	Abnormal nervous system electrophysiology
OMIM:256731	CLN5	1203	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
OMIM:256731	CLN5	1203	HP:0000007	Autosomal recessive inheritance
OMIM:256731	CLN5	1203	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:256731	CLN5	1203	HP:0001250	Seizures
OMIM:615290	BICD2	23299	HP:0009046	Difficulty running
OMIM:615290	BICD2	23299	HP:0003391	Gowers sign
OMIM:615290	BICD2	23299	HP:0000006	Autosomal dominant inheritance
OMIM:615290	BICD2	23299	HP:0001762	Talipes equinovarus
OMIM:615290	BICD2	23299	HP:0001270	Motor delay
OMIM:615290	BICD2	23299	HP:0001284	Areflexia
OMIM:615290	BICD2	23299	HP:0001771	Achilles tendon contracture
OMIM:615290	BICD2	23299	HP:0001265	Hyporeflexia
OMIM:615290	BICD2	23299	HP:0002515	Waddling gait
OMIM:615290	BICD2	23299	HP:0007269	Spinal muscular atrophy
OMIM:615290	BICD2	23299	HP:0003828	Variable expressivity
OMIM:615290	BICD2	23299	HP:0040083	Toe walking
OMIM:615290	BICD2	23299	HP:0003327	Axial muscle weakness
OMIM:612780	KCNJ10	3766	HP:0002080	Intention tremor
OMIM:612780	KCNJ10	3766	HP:0001250	Seizures
OMIM:612780	KCNJ10	3766	HP:0001263	Global developmental delay
OMIM:612780	KCNJ10	3766	HP:0002075	Dysdiadochokinesis
OMIM:612780	KCNJ10	3766	HP:0001959	Polydipsia
OMIM:612780	KCNJ10	3766	HP:0003593	Infantile onset
OMIM:612780	KCNJ10	3766	HP:0000128	Renal potassium wasting
OMIM:612780	KCNJ10	3766	HP:0001272	Cerebellar atrophy
OMIM:612780	KCNJ10	3766	HP:0002900	Hypokalemia
OMIM:612780	KCNJ10	3766	HP:0001249	Intellectual disability
OMIM:612780	KCNJ10	3766	HP:0000127	Renal salt wasting
OMIM:612780	KCNJ10	3766	HP:0000103	Polyuria
OMIM:612780	KCNJ10	3766	HP:0000848	Increased circulating renin level
OMIM:612780	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
OMIM:612780	KCNJ10	3766	HP:0012606	Renal sodium wasting
OMIM:612780	KCNJ10	3766	HP:0001252	Muscular hypotonia
OMIM:612780	KCNJ10	3766	HP:0002917	Hypomagnesemia
OMIM:612780	KCNJ10	3766	HP:0030083	Salt craving
OMIM:612780	KCNJ10	3766	HP:0001290	Generalized hypotonia
OMIM:612780	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:612780	KCNJ10	3766	HP:0000805	Enuresis
OMIM:612780	KCNJ10	3766	HP:0000859	Hyperaldosteronism
OMIM:612780	KCNJ10	3766	HP:0000750	Delayed speech and language development
OMIM:612780	KCNJ10	3766	HP:0001960	Hypokalemic metabolic alkalosis
OMIM:612780	KCNJ10	3766	HP:0003127	Hypocalciuria
ORPHA:2965	CDH23	64072	HP:0000771	Gynecomastia
ORPHA:2965	CDH23	64072	HP:0011748	Adrenocorticotropic hormone deficiency
ORPHA:2965	CDH23	64072	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:2965	CDH23	64072	HP:0000529	Progressive visual loss
ORPHA:2965	CDH23	64072	HP:0002920	Decreased circulating ACTH level
ORPHA:2965	CDH23	64072	HP:0000980	Pallor
ORPHA:2965	CDH23	64072	HP:0012041	Decreased fertility in males
ORPHA:2965	CDH23	64072	HP:0000939	Osteoporosis
ORPHA:2965	CDH23	64072	HP:0000938	Osteopenia
ORPHA:2965	CDH23	64072	HP:0012378	Fatigue
ORPHA:2965	CDH23	64072	HP:0100829	Galactorrhea
ORPHA:2965	CDH23	64072	HP:0030018	Decreased female libido
ORPHA:2965	CDH23	64072	HP:0000026	Male hypogonadism
ORPHA:2965	CDH23	64072	HP:0003388	Easy fatigability
ORPHA:2965	CDH23	64072	HP:0008240	Secondary growth hormone deficiency
ORPHA:2965	CDH23	64072	HP:0030016	Dyspareunia
ORPHA:2965	CDH23	64072	HP:0000802	Impotence
ORPHA:2965	CDH23	64072	HP:0000868	Decreased fertility in females
ORPHA:2965	CDH23	64072	HP:0008245	Pituitary hypothyroidism
ORPHA:2965	CDH23	64072	HP:0000134	Female hypogonadism
ORPHA:2965	CDH23	64072	HP:0002615	Hypotension
ORPHA:2965	CDH23	64072	HP:0002013	Vomiting
ORPHA:2965	CDH23	64072	HP:0002315	Headache
ORPHA:2965	CDH23	64072	HP:0011357	Abnormality of hair density
ORPHA:2965	CDH23	64072	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:2965	CDH23	64072	HP:0000141	Amenorrhea
ORPHA:2965	AIP	9049	HP:0000771	Gynecomastia
ORPHA:2965	AIP	9049	HP:0011748	Adrenocorticotropic hormone deficiency
ORPHA:2965	AIP	9049	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:2965	AIP	9049	HP:0000529	Progressive visual loss
ORPHA:2965	AIP	9049	HP:0002920	Decreased circulating ACTH level
ORPHA:2965	AIP	9049	HP:0000980	Pallor
ORPHA:2965	AIP	9049	HP:0012041	Decreased fertility in males
ORPHA:2965	AIP	9049	HP:0000939	Osteoporosis
ORPHA:2965	AIP	9049	HP:0000938	Osteopenia
ORPHA:2965	AIP	9049	HP:0012378	Fatigue
ORPHA:2965	AIP	9049	HP:0100829	Galactorrhea
ORPHA:2965	AIP	9049	HP:0030018	Decreased female libido
ORPHA:2965	AIP	9049	HP:0000026	Male hypogonadism
ORPHA:2965	AIP	9049	HP:0003388	Easy fatigability
ORPHA:2965	AIP	9049	HP:0008240	Secondary growth hormone deficiency
ORPHA:2965	AIP	9049	HP:0030016	Dyspareunia
ORPHA:2965	AIP	9049	HP:0000802	Impotence
ORPHA:2965	AIP	9049	HP:0000868	Decreased fertility in females
ORPHA:2965	AIP	9049	HP:0008245	Pituitary hypothyroidism
ORPHA:2965	AIP	9049	HP:0000134	Female hypogonadism
ORPHA:2965	AIP	9049	HP:0002615	Hypotension
ORPHA:2965	AIP	9049	HP:0002013	Vomiting
ORPHA:2965	AIP	9049	HP:0002315	Headache
ORPHA:2965	AIP	9049	HP:0011357	Abnormality of hair density
ORPHA:2965	AIP	9049	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:2965	AIP	9049	HP:0000141	Amenorrhea
ORPHA:2965	MEN1	4221	HP:0000771	Gynecomastia
ORPHA:2965	MEN1	4221	HP:0011748	Adrenocorticotropic hormone deficiency
ORPHA:2965	MEN1	4221	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
ORPHA:2965	MEN1	4221	HP:0000529	Progressive visual loss
ORPHA:2965	MEN1	4221	HP:0002920	Decreased circulating ACTH level
ORPHA:2965	MEN1	4221	HP:0000980	Pallor
ORPHA:2965	MEN1	4221	HP:0012041	Decreased fertility in males
ORPHA:2965	MEN1	4221	HP:0000939	Osteoporosis
ORPHA:2965	MEN1	4221	HP:0000938	Osteopenia
ORPHA:2965	MEN1	4221	HP:0012378	Fatigue
ORPHA:2965	MEN1	4221	HP:0100829	Galactorrhea
ORPHA:2965	MEN1	4221	HP:0030018	Decreased female libido
ORPHA:2965	MEN1	4221	HP:0000026	Male hypogonadism
ORPHA:2965	MEN1	4221	HP:0003388	Easy fatigability
ORPHA:2965	MEN1	4221	HP:0008240	Secondary growth hormone deficiency
ORPHA:2965	MEN1	4221	HP:0030016	Dyspareunia
ORPHA:2965	MEN1	4221	HP:0000802	Impotence
ORPHA:2965	MEN1	4221	HP:0000868	Decreased fertility in females
ORPHA:2965	MEN1	4221	HP:0008245	Pituitary hypothyroidism
ORPHA:2965	MEN1	4221	HP:0000134	Female hypogonadism
ORPHA:2965	MEN1	4221	HP:0002615	Hypotension
ORPHA:2965	MEN1	4221	HP:0002013	Vomiting
ORPHA:2965	MEN1	4221	HP:0002315	Headache
ORPHA:2965	MEN1	4221	HP:0011357	Abnormality of hair density
ORPHA:2965	MEN1	4221	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:2965	MEN1	4221	HP:0000141	Amenorrhea
OMIM:613398	DDX11	1663	HP:0000588	Optic nerve coloboma
OMIM:613398	DDX11	1663	HP:0004691	2-3 toe syndactyly
OMIM:613398	DDX11	1663	HP:0000954	Single transverse palmar crease
OMIM:613398	DDX11	1663	HP:0001629	Ventricular septal defect
OMIM:613398	DDX11	1663	HP:0000365	Hearing impairment
OMIM:613398	DDX11	1663	HP:0000154	Wide mouth
OMIM:613398	DDX11	1663	HP:0000965	Cutis marmorata
OMIM:613398	DDX11	1663	HP:0000007	Autosomal recessive inheritance
OMIM:613398	DDX11	1663	HP:0001290	Generalized hypotonia
OMIM:613398	DDX11	1663	HP:0000274	Small face
OMIM:613398	DDX11	1663	HP:0000286	Epicanthus
OMIM:613398	DDX11	1663	HP:0001249	Intellectual disability
OMIM:613398	DDX11	1663	HP:0000378	Cupped ear
OMIM:613398	DDX11	1663	HP:0000340	Sloping forehead
OMIM:613398	DDX11	1663	HP:0008586	Hypoplasia of the cochlea
OMIM:613398	DDX11	1663	HP:0001263	Global developmental delay
OMIM:613398	DDX11	1663	HP:0001511	Intrauterine growth retardation
OMIM:613398	DDX11	1663	HP:0000218	High palate
OMIM:613398	DDX11	1663	HP:0000252	Microcephaly
OMIM:300957	THOC2	57187	HP:0001249	Intellectual disability
OMIM:300957	THOC2	57187	HP:0002171	Gliosis
OMIM:300957	THOC2	57187	HP:0001290	Generalized hypotonia
OMIM:300957	THOC2	57187	HP:0001419	X-linked recessive inheritance
OMIM:304020	RPGR	6103	HP:0000505	Visual impairment
OMIM:304020	RPGR	6103	HP:0000545	Myopia
OMIM:304020	RPGR	6103	HP:0030637	Cone dysfunction syndrome
OMIM:304020	RPGR	6103	HP:0200056	Macular scar
OMIM:304020	RPGR	6103	HP:0000639	Nystagmus
OMIM:304020	RPGR	6103	HP:0000613	Photophobia
OMIM:304020	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:304020	RPGR	6103	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:268400	RECQL4	9401	HP:0004334	Dermal atrophy
OMIM:268400	RECQL4	9401	HP:0000691	Microdontia
OMIM:268400	RECQL4	9401	HP:0004322	Short stature
OMIM:268400	RECQL4	9401	HP:0000303	Mandibular prognathia
OMIM:268400	RECQL4	9401	HP:0011069	Increased number of teeth
OMIM:268400	RECQL4	9401	HP:0000486	Strabismus
OMIM:268400	RECQL4	9401	HP:0200055	Small hand
OMIM:268400	RECQL4	9401	HP:0000135	Hypogonadism
OMIM:268400	RECQL4	9401	HP:0000501	Glaucoma
OMIM:268400	RECQL4	9401	HP:0001029	Poikiloderma
OMIM:268400	RECQL4	9401	HP:0001596	Alopecia
OMIM:268400	RECQL4	9401	HP:0004279	Short palm
OMIM:268400	RECQL4	9401	HP:0006349	Agenesis of permanent teeth
OMIM:268400	RECQL4	9401	HP:0000482	Microcornea
OMIM:268400	RECQL4	9401	HP:0006368	Forearm reduction defects
OMIM:268400	RECQL4	9401	HP:0001734	Annular pancreas
OMIM:268400	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:268400	RECQL4	9401	HP:0000684	Delayed eruption of teeth
OMIM:268400	RECQL4	9401	HP:0001009	Telangiectasia
OMIM:268400	RECQL4	9401	HP:0000939	Osteoporosis
OMIM:268400	RECQL4	9401	HP:0001597	Abnormality of the nail
OMIM:268400	RECQL4	9401	HP:0008070	Sparse hair
OMIM:268400	RECQL4	9401	HP:0001545	Anteriorly placed anus
OMIM:268400	RECQL4	9401	HP:0007713	Juvenile zonular cataracts
OMIM:268400	RECQL4	9401	HP:0002007	Frontal bossing
OMIM:268400	RECQL4	9401	HP:0002216	Premature graying of hair
OMIM:268400	RECQL4	9401	HP:0002671	Basal cell carcinoma
OMIM:268400	RECQL4	9401	HP:0001773	Short foot
OMIM:268400	RECQL4	9401	HP:0002860	Squamous cell carcinoma
OMIM:268400	RECQL4	9401	HP:0000028	Cryptorchidism
OMIM:268400	RECQL4	9401	HP:0001762	Talipes equinovarus
OMIM:268400	RECQL4	9401	HP:0000568	Microphthalmia
OMIM:268400	RECQL4	9401	HP:0002669	Osteosarcoma
OMIM:268400	RECQL4	9401	HP:0000992	Cutaneous photosensitivity
OMIM:268400	RECQL4	9401	HP:0009778	Short thumb
OMIM:268400	RECQL4	9401	HP:0003196	Short nose
ORPHA:101041	FGA	2243	HP:0000421	Epistaxis
ORPHA:101041	FGA	2243	HP:0002239	Gastrointestinal hemorrhage
ORPHA:101041	FGA	2243	HP:0000225	Gingival bleeding
ORPHA:101041	FGB	2244	HP:0000421	Epistaxis
ORPHA:101041	FGB	2244	HP:0002239	Gastrointestinal hemorrhage
ORPHA:101041	FGB	2244	HP:0000225	Gingival bleeding
ORPHA:101041	FGG	2266	HP:0000421	Epistaxis
ORPHA:101041	FGG	2266	HP:0002239	Gastrointestinal hemorrhage
ORPHA:101041	FGG	2266	HP:0000225	Gingival bleeding
OMIM:612649	RSPH4A	345895	HP:0003546	Exercise intolerance
OMIM:612649	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:612649	RSPH4A	345895	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia
OMIM:612649	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:612649	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RSPH4A	345895	HP:0002257	Chronic rhinitis
OMIM:612649	RSPH4A	345895	HP:0012265	Ciliary dyskinesia
OMIM:612649	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:612649	RSPH4A	345895	HP:0004322	Short stature
OMIM:604765	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:604765	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:604765	DES	1674	HP:0006673	Reduced systolic function
OMIM:400044	SRY	6736	HP:0000055	Abnormality of female external genitalia
OMIM:400044	SRY	6736	HP:0000786	Primary amenorrhea
OMIM:400044	SRY	6736	HP:0012245	Sex reversal
OMIM:400044	SRY	6736	HP:0000037	Male pseudohermaphroditism
OMIM:400044	SRY	6736	HP:0000133	Gonadal dysgenesis
OMIM:400044	SRY	6736	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	SRY	6736	HP:0000098	Tall stature
OMIM:614915	MYBPC1	4604	HP:0000007	Autosomal recessive inheritance
OMIM:614915	MYBPC1	4604	HP:0003202	Skeletal muscle atrophy
OMIM:614915	MYBPC1	4604	HP:0005684	Distal arthrogryposis
ORPHA:163693	SLC3A1	6519	HP:0002901	Hypocalcemia
ORPHA:163693	SLC3A1	6519	HP:0000527	Long eyelashes
ORPHA:163693	SLC3A1	6519	HP:0001263	Global developmental delay
ORPHA:163693	SLC3A1	6519	HP:0001611	Nasal speech
ORPHA:163693	SLC3A1	6519	HP:0001508	Failure to thrive
ORPHA:163693	SLC3A1	6519	HP:0002342	Intellectual disability, moderate
ORPHA:163693	SLC3A1	6519	HP:0000787	Nephrolithiasis
ORPHA:163693	SLC3A1	6519	HP:0001252	Muscular hypotonia
ORPHA:163693	SLC3A1	6519	HP:0001510	Growth delay
ORPHA:163693	SLC3A1	6519	HP:0002007	Frontal bossing
ORPHA:163693	SLC3A1	6519	HP:0001250	Seizures
ORPHA:163693	SLC3A1	6519	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:163693	SLC3A1	6519	HP:0003131	Cystinuria
ORPHA:163693	SLC3A1	6519	HP:0000135	Hypogonadism
ORPHA:163693	SLC3A1	6519	HP:0005280	Depressed nasal bridge
ORPHA:163693	SLC3A1	6519	HP:0003128	Lactic acidosis
ORPHA:163693	SLC3A1	6519	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:163693	PPM1B	5495	HP:0002901	Hypocalcemia
ORPHA:163693	PPM1B	5495	HP:0000527	Long eyelashes
ORPHA:163693	PPM1B	5495	HP:0001263	Global developmental delay
ORPHA:163693	PPM1B	5495	HP:0001611	Nasal speech
ORPHA:163693	PPM1B	5495	HP:0001508	Failure to thrive
ORPHA:163693	PPM1B	5495	HP:0002342	Intellectual disability, moderate
ORPHA:163693	PPM1B	5495	HP:0000787	Nephrolithiasis
ORPHA:163693	PPM1B	5495	HP:0001252	Muscular hypotonia
ORPHA:163693	PPM1B	5495	HP:0001510	Growth delay
ORPHA:163693	PPM1B	5495	HP:0002007	Frontal bossing
ORPHA:163693	PPM1B	5495	HP:0001250	Seizures
ORPHA:163693	PPM1B	5495	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:163693	PPM1B	5495	HP:0003131	Cystinuria
ORPHA:163693	PPM1B	5495	HP:0000135	Hypogonadism
ORPHA:163693	PPM1B	5495	HP:0005280	Depressed nasal bridge
ORPHA:163693	PPM1B	5495	HP:0003128	Lactic acidosis
ORPHA:163693	PPM1B	5495	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:163693	PREPL	9581	HP:0002901	Hypocalcemia
ORPHA:163693	PREPL	9581	HP:0000527	Long eyelashes
ORPHA:163693	PREPL	9581	HP:0001263	Global developmental delay
ORPHA:163693	PREPL	9581	HP:0001611	Nasal speech
ORPHA:163693	PREPL	9581	HP:0001508	Failure to thrive
ORPHA:163693	PREPL	9581	HP:0002342	Intellectual disability, moderate
ORPHA:163693	PREPL	9581	HP:0000787	Nephrolithiasis
ORPHA:163693	PREPL	9581	HP:0001252	Muscular hypotonia
ORPHA:163693	PREPL	9581	HP:0001510	Growth delay
ORPHA:163693	PREPL	9581	HP:0002007	Frontal bossing
ORPHA:163693	PREPL	9581	HP:0001250	Seizures
ORPHA:163693	PREPL	9581	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:163693	PREPL	9581	HP:0003131	Cystinuria
ORPHA:163693	PREPL	9581	HP:0000135	Hypogonadism
ORPHA:163693	PREPL	9581	HP:0005280	Depressed nasal bridge
ORPHA:163693	PREPL	9581	HP:0003128	Lactic acidosis
ORPHA:163693	PREPL	9581	HP:0200125	Mitochondrial respiratory chain defects
ORPHA:163693	CAMKMT	79823	HP:0002901	Hypocalcemia
ORPHA:163693	CAMKMT	79823	HP:0000527	Long eyelashes
ORPHA:163693	CAMKMT	79823	HP:0001263	Global developmental delay
ORPHA:163693	CAMKMT	79823	HP:0001611	Nasal speech
ORPHA:163693	CAMKMT	79823	HP:0001508	Failure to thrive
ORPHA:163693	CAMKMT	79823	HP:0002342	Intellectual disability, moderate
ORPHA:163693	CAMKMT	79823	HP:0000787	Nephrolithiasis
ORPHA:163693	CAMKMT	79823	HP:0001252	Muscular hypotonia
ORPHA:163693	CAMKMT	79823	HP:0001510	Growth delay
ORPHA:163693	CAMKMT	79823	HP:0002007	Frontal bossing
ORPHA:163693	CAMKMT	79823	HP:0001250	Seizures
ORPHA:163693	CAMKMT	79823	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:163693	CAMKMT	79823	HP:0003131	Cystinuria
ORPHA:163693	CAMKMT	79823	HP:0000135	Hypogonadism
ORPHA:163693	CAMKMT	79823	HP:0005280	Depressed nasal bridge
ORPHA:163693	CAMKMT	79823	HP:0003128	Lactic acidosis
ORPHA:163693	CAMKMT	79823	HP:0200125	Mitochondrial respiratory chain defects
OMIM:252010	NUBPL	80224	HP:0001250	Seizures
OMIM:252010	NUBPL	80224	HP:0002490	Increased CSF lactate
OMIM:252010	NUBPL	80224	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NUBPL	80224	HP:0002181	Cerebral edema
OMIM:252010	NUBPL	80224	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NUBPL	80224	HP:0003128	Lactic acidosis
OMIM:252010	NUBPL	80224	HP:0001272	Cerebellar atrophy
OMIM:252010	NUBPL	80224	HP:0000508	Ptosis
OMIM:252010	NUBPL	80224	HP:0001423	X-linked dominant inheritance
OMIM:252010	NUBPL	80224	HP:0003546	Exercise intolerance
OMIM:252010	NUBPL	80224	HP:0001259	Coma
OMIM:252010	NUBPL	80224	HP:0001508	Failure to thrive
OMIM:252010	NUBPL	80224	HP:0003812	Phenotypic variability
OMIM:252010	NUBPL	80224	HP:0001251	Ataxia
OMIM:252010	NUBPL	80224	HP:0001265	Hyporeflexia
OMIM:252010	NUBPL	80224	HP:0000486	Strabismus
OMIM:252010	NUBPL	80224	HP:0001257	Spasticity
OMIM:252010	NUBPL	80224	HP:0000618	Blindness
OMIM:252010	NUBPL	80224	HP:0000639	Nystagmus
OMIM:252010	NUBPL	80224	HP:0001254	Lethargy
OMIM:252010	NUBPL	80224	HP:0001510	Growth delay
OMIM:252010	NUBPL	80224	HP:0001263	Global developmental delay
OMIM:252010	NUBPL	80224	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NUBPL	80224	HP:0001943	Hypoglycemia
OMIM:252010	NUBPL	80224	HP:0001347	Hyperreflexia
OMIM:252010	NUBPL	80224	HP:0001399	Hepatic failure
OMIM:252010	NUBPL	80224	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NUBPL	80224	HP:0001290	Generalized hypotonia
OMIM:252010	NUBPL	80224	HP:0001427	Mitochondrial inheritance
OMIM:252010	NUBPL	80224	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NUBPL	80224	HP:0002878	Respiratory failure
OMIM:252010	NUBPL	80224	HP:0004481	Progressive macrocephaly
OMIM:252010	NUBPL	80224	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NUBPL	80224	HP:0001324	Muscle weakness
OMIM:252010	NUBPL	80224	HP:0000543	Optic disc pallor
OMIM:252010	NUBPL	80224	HP:0002376	Developmental regression
OMIM:252010	NUBPL	80224	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NUBPL	80224	HP:0002013	Vomiting
OMIM:252010	NUBPL	80224	HP:0002415	Leukodystrophy
OMIM:252010	NUBPL	80224	HP:0003487	Babinski sign
OMIM:252010	TIMMDC1	51300	HP:0001250	Seizures
OMIM:252010	TIMMDC1	51300	HP:0002490	Increased CSF lactate
OMIM:252010	TIMMDC1	51300	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	TIMMDC1	51300	HP:0002181	Cerebral edema
OMIM:252010	TIMMDC1	51300	HP:0000007	Autosomal recessive inheritance
OMIM:252010	TIMMDC1	51300	HP:0003128	Lactic acidosis
OMIM:252010	TIMMDC1	51300	HP:0001272	Cerebellar atrophy
OMIM:252010	TIMMDC1	51300	HP:0000508	Ptosis
OMIM:252010	TIMMDC1	51300	HP:0001423	X-linked dominant inheritance
OMIM:252010	TIMMDC1	51300	HP:0003546	Exercise intolerance
OMIM:252010	TIMMDC1	51300	HP:0001259	Coma
OMIM:252010	TIMMDC1	51300	HP:0001508	Failure to thrive
OMIM:252010	TIMMDC1	51300	HP:0003812	Phenotypic variability
OMIM:252010	TIMMDC1	51300	HP:0001251	Ataxia
OMIM:252010	TIMMDC1	51300	HP:0001265	Hyporeflexia
OMIM:252010	TIMMDC1	51300	HP:0000486	Strabismus
OMIM:252010	TIMMDC1	51300	HP:0001257	Spasticity
OMIM:252010	TIMMDC1	51300	HP:0000618	Blindness
OMIM:252010	TIMMDC1	51300	HP:0000639	Nystagmus
OMIM:252010	TIMMDC1	51300	HP:0001254	Lethargy
OMIM:252010	TIMMDC1	51300	HP:0001510	Growth delay
OMIM:252010	TIMMDC1	51300	HP:0001263	Global developmental delay
OMIM:252010	TIMMDC1	51300	HP:0008872	Feeding difficulties in infancy
OMIM:252010	TIMMDC1	51300	HP:0001943	Hypoglycemia
OMIM:252010	TIMMDC1	51300	HP:0001347	Hyperreflexia
OMIM:252010	TIMMDC1	51300	HP:0001399	Hepatic failure
OMIM:252010	TIMMDC1	51300	HP:0003202	Skeletal muscle atrophy
OMIM:252010	TIMMDC1	51300	HP:0001290	Generalized hypotonia
OMIM:252010	TIMMDC1	51300	HP:0001427	Mitochondrial inheritance
OMIM:252010	TIMMDC1	51300	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	TIMMDC1	51300	HP:0002878	Respiratory failure
OMIM:252010	TIMMDC1	51300	HP:0004481	Progressive macrocephaly
OMIM:252010	TIMMDC1	51300	HP:0000407	Sensorineural hearing impairment
OMIM:252010	TIMMDC1	51300	HP:0001324	Muscle weakness
OMIM:252010	TIMMDC1	51300	HP:0000543	Optic disc pallor
OMIM:252010	TIMMDC1	51300	HP:0002376	Developmental regression
OMIM:252010	TIMMDC1	51300	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	TIMMDC1	51300	HP:0002013	Vomiting
OMIM:252010	TIMMDC1	51300	HP:0002415	Leukodystrophy
OMIM:252010	TIMMDC1	51300	HP:0003487	Babinski sign
OMIM:252010	NDUFB3	4709	HP:0001250	Seizures
OMIM:252010	NDUFB3	4709	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFB3	4709	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFB3	4709	HP:0002181	Cerebral edema
OMIM:252010	NDUFB3	4709	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFB3	4709	HP:0003128	Lactic acidosis
OMIM:252010	NDUFB3	4709	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFB3	4709	HP:0000508	Ptosis
OMIM:252010	NDUFB3	4709	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFB3	4709	HP:0003546	Exercise intolerance
OMIM:252010	NDUFB3	4709	HP:0001259	Coma
OMIM:252010	NDUFB3	4709	HP:0001508	Failure to thrive
OMIM:252010	NDUFB3	4709	HP:0003812	Phenotypic variability
OMIM:252010	NDUFB3	4709	HP:0001251	Ataxia
OMIM:252010	NDUFB3	4709	HP:0001265	Hyporeflexia
OMIM:252010	NDUFB3	4709	HP:0000486	Strabismus
OMIM:252010	NDUFB3	4709	HP:0001257	Spasticity
OMIM:252010	NDUFB3	4709	HP:0000618	Blindness
OMIM:252010	NDUFB3	4709	HP:0000639	Nystagmus
OMIM:252010	NDUFB3	4709	HP:0001254	Lethargy
OMIM:252010	NDUFB3	4709	HP:0001510	Growth delay
OMIM:252010	NDUFB3	4709	HP:0001263	Global developmental delay
OMIM:252010	NDUFB3	4709	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFB3	4709	HP:0001943	Hypoglycemia
OMIM:252010	NDUFB3	4709	HP:0001347	Hyperreflexia
OMIM:252010	NDUFB3	4709	HP:0001399	Hepatic failure
OMIM:252010	NDUFB3	4709	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFB3	4709	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFB3	4709	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFB3	4709	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFB3	4709	HP:0002878	Respiratory failure
OMIM:252010	NDUFB3	4709	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFB3	4709	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFB3	4709	HP:0001324	Muscle weakness
OMIM:252010	NDUFB3	4709	HP:0000543	Optic disc pallor
OMIM:252010	NDUFB3	4709	HP:0002376	Developmental regression
OMIM:252010	NDUFB3	4709	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFB3	4709	HP:0002013	Vomiting
OMIM:252010	NDUFB3	4709	HP:0002415	Leukodystrophy
OMIM:252010	NDUFB3	4709	HP:0003487	Babinski sign
OMIM:252010	NDUFAF2	91942	HP:0001250	Seizures
OMIM:252010	NDUFAF2	91942	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF2	91942	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF2	91942	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF2	91942	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF2	91942	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF2	91942	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF2	91942	HP:0000508	Ptosis
OMIM:252010	NDUFAF2	91942	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF2	91942	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF2	91942	HP:0001259	Coma
OMIM:252010	NDUFAF2	91942	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF2	91942	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF2	91942	HP:0001251	Ataxia
OMIM:252010	NDUFAF2	91942	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF2	91942	HP:0000486	Strabismus
OMIM:252010	NDUFAF2	91942	HP:0001257	Spasticity
OMIM:252010	NDUFAF2	91942	HP:0000618	Blindness
OMIM:252010	NDUFAF2	91942	HP:0000639	Nystagmus
OMIM:252010	NDUFAF2	91942	HP:0001254	Lethargy
OMIM:252010	NDUFAF2	91942	HP:0001510	Growth delay
OMIM:252010	NDUFAF2	91942	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF2	91942	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF2	91942	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF2	91942	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF2	91942	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF2	91942	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF2	91942	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFAF2	91942	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF2	91942	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF2	91942	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF2	91942	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF2	91942	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF2	91942	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF2	91942	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF2	91942	HP:0002376	Developmental regression
OMIM:252010	NDUFAF2	91942	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF2	91942	HP:0002013	Vomiting
OMIM:252010	NDUFAF2	91942	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF2	91942	HP:0003487	Babinski sign
OMIM:252010	NDUFB9	4715	HP:0001250	Seizures
OMIM:252010	NDUFB9	4715	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFB9	4715	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFB9	4715	HP:0002181	Cerebral edema
OMIM:252010	NDUFB9	4715	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFB9	4715	HP:0003128	Lactic acidosis
OMIM:252010	NDUFB9	4715	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFB9	4715	HP:0000508	Ptosis
OMIM:252010	NDUFB9	4715	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFB9	4715	HP:0003546	Exercise intolerance
OMIM:252010	NDUFB9	4715	HP:0001259	Coma
OMIM:252010	NDUFB9	4715	HP:0001508	Failure to thrive
OMIM:252010	NDUFB9	4715	HP:0003812	Phenotypic variability
OMIM:252010	NDUFB9	4715	HP:0001251	Ataxia
OMIM:252010	NDUFB9	4715	HP:0001265	Hyporeflexia
OMIM:252010	NDUFB9	4715	HP:0000486	Strabismus
OMIM:252010	NDUFB9	4715	HP:0001257	Spasticity
OMIM:252010	NDUFB9	4715	HP:0000618	Blindness
OMIM:252010	NDUFB9	4715	HP:0000639	Nystagmus
OMIM:252010	NDUFB9	4715	HP:0001254	Lethargy
OMIM:252010	NDUFB9	4715	HP:0001510	Growth delay
OMIM:252010	NDUFB9	4715	HP:0001263	Global developmental delay
OMIM:252010	NDUFB9	4715	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFB9	4715	HP:0001943	Hypoglycemia
OMIM:252010	NDUFB9	4715	HP:0001347	Hyperreflexia
OMIM:252010	NDUFB9	4715	HP:0001399	Hepatic failure
OMIM:252010	NDUFB9	4715	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFB9	4715	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFB9	4715	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFB9	4715	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFB9	4715	HP:0002878	Respiratory failure
OMIM:252010	NDUFB9	4715	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFB9	4715	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFB9	4715	HP:0001324	Muscle weakness
OMIM:252010	NDUFB9	4715	HP:0000543	Optic disc pallor
OMIM:252010	NDUFB9	4715	HP:0002376	Developmental regression
OMIM:252010	NDUFB9	4715	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFB9	4715	HP:0002013	Vomiting
OMIM:252010	NDUFB9	4715	HP:0002415	Leukodystrophy
OMIM:252010	NDUFB9	4715	HP:0003487	Babinski sign
OMIM:252010	NDUFS1	4719	HP:0001250	Seizures
OMIM:252010	NDUFS1	4719	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS1	4719	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS1	4719	HP:0002181	Cerebral edema
OMIM:252010	NDUFS1	4719	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS1	4719	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS1	4719	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS1	4719	HP:0000508	Ptosis
OMIM:252010	NDUFS1	4719	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS1	4719	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS1	4719	HP:0001259	Coma
OMIM:252010	NDUFS1	4719	HP:0001508	Failure to thrive
OMIM:252010	NDUFS1	4719	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS1	4719	HP:0001251	Ataxia
OMIM:252010	NDUFS1	4719	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS1	4719	HP:0000486	Strabismus
OMIM:252010	NDUFS1	4719	HP:0001257	Spasticity
OMIM:252010	NDUFS1	4719	HP:0000618	Blindness
OMIM:252010	NDUFS1	4719	HP:0000639	Nystagmus
OMIM:252010	NDUFS1	4719	HP:0001254	Lethargy
OMIM:252010	NDUFS1	4719	HP:0001510	Growth delay
OMIM:252010	NDUFS1	4719	HP:0001263	Global developmental delay
OMIM:252010	NDUFS1	4719	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS1	4719	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS1	4719	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS1	4719	HP:0001399	Hepatic failure
OMIM:252010	NDUFS1	4719	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS1	4719	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFS1	4719	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS1	4719	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS1	4719	HP:0002878	Respiratory failure
OMIM:252010	NDUFS1	4719	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS1	4719	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS1	4719	HP:0001324	Muscle weakness
OMIM:252010	NDUFS1	4719	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS1	4719	HP:0002376	Developmental regression
OMIM:252010	NDUFS1	4719	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS1	4719	HP:0002013	Vomiting
OMIM:252010	NDUFS1	4719	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS1	4719	HP:0003487	Babinski sign
OMIM:252010	NDUFS2	4720	HP:0001250	Seizures
OMIM:252010	NDUFS2	4720	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS2	4720	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS2	4720	HP:0002181	Cerebral edema
OMIM:252010	NDUFS2	4720	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS2	4720	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS2	4720	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS2	4720	HP:0000508	Ptosis
OMIM:252010	NDUFS2	4720	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS2	4720	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS2	4720	HP:0001259	Coma
OMIM:252010	NDUFS2	4720	HP:0001508	Failure to thrive
OMIM:252010	NDUFS2	4720	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS2	4720	HP:0001251	Ataxia
OMIM:252010	NDUFS2	4720	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS2	4720	HP:0000486	Strabismus
OMIM:252010	NDUFS2	4720	HP:0001257	Spasticity
OMIM:252010	NDUFS2	4720	HP:0000618	Blindness
OMIM:252010	NDUFS2	4720	HP:0000639	Nystagmus
OMIM:252010	NDUFS2	4720	HP:0001254	Lethargy
OMIM:252010	NDUFS2	4720	HP:0001510	Growth delay
OMIM:252010	NDUFS2	4720	HP:0001263	Global developmental delay
OMIM:252010	NDUFS2	4720	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS2	4720	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS2	4720	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS2	4720	HP:0001399	Hepatic failure
OMIM:252010	NDUFS2	4720	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS2	4720	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFS2	4720	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS2	4720	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS2	4720	HP:0002878	Respiratory failure
OMIM:252010	NDUFS2	4720	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS2	4720	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS2	4720	HP:0001324	Muscle weakness
OMIM:252010	NDUFS2	4720	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS2	4720	HP:0002376	Developmental regression
OMIM:252010	NDUFS2	4720	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS2	4720	HP:0002013	Vomiting
OMIM:252010	NDUFS2	4720	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS2	4720	HP:0003487	Babinski sign
OMIM:252010	NDUFS3	4722	HP:0001250	Seizures
OMIM:252010	NDUFS3	4722	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS3	4722	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS3	4722	HP:0002181	Cerebral edema
OMIM:252010	NDUFS3	4722	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS3	4722	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS3	4722	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS3	4722	HP:0000508	Ptosis
OMIM:252010	NDUFS3	4722	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS3	4722	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS3	4722	HP:0001259	Coma
OMIM:252010	NDUFS3	4722	HP:0001508	Failure to thrive
OMIM:252010	NDUFS3	4722	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS3	4722	HP:0001251	Ataxia
OMIM:252010	NDUFS3	4722	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS3	4722	HP:0000486	Strabismus
OMIM:252010	NDUFS3	4722	HP:0001257	Spasticity
OMIM:252010	NDUFS3	4722	HP:0000618	Blindness
OMIM:252010	NDUFS3	4722	HP:0000639	Nystagmus
OMIM:252010	NDUFS3	4722	HP:0001254	Lethargy
OMIM:252010	NDUFS3	4722	HP:0001510	Growth delay
OMIM:252010	NDUFS3	4722	HP:0001263	Global developmental delay
OMIM:252010	NDUFS3	4722	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS3	4722	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS3	4722	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS3	4722	HP:0001399	Hepatic failure
OMIM:252010	NDUFS3	4722	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS3	4722	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFS3	4722	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS3	4722	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS3	4722	HP:0002878	Respiratory failure
OMIM:252010	NDUFS3	4722	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS3	4722	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS3	4722	HP:0001324	Muscle weakness
OMIM:252010	NDUFS3	4722	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS3	4722	HP:0002376	Developmental regression
OMIM:252010	NDUFS3	4722	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS3	4722	HP:0002013	Vomiting
OMIM:252010	NDUFS3	4722	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS3	4722	HP:0003487	Babinski sign
OMIM:252010	NDUFV1	4723	HP:0001250	Seizures
OMIM:252010	NDUFV1	4723	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFV1	4723	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFV1	4723	HP:0002181	Cerebral edema
OMIM:252010	NDUFV1	4723	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFV1	4723	HP:0003128	Lactic acidosis
OMIM:252010	NDUFV1	4723	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFV1	4723	HP:0000508	Ptosis
OMIM:252010	NDUFV1	4723	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFV1	4723	HP:0003546	Exercise intolerance
OMIM:252010	NDUFV1	4723	HP:0001259	Coma
OMIM:252010	NDUFV1	4723	HP:0001508	Failure to thrive
OMIM:252010	NDUFV1	4723	HP:0003812	Phenotypic variability
OMIM:252010	NDUFV1	4723	HP:0001251	Ataxia
OMIM:252010	NDUFV1	4723	HP:0001265	Hyporeflexia
OMIM:252010	NDUFV1	4723	HP:0000486	Strabismus
OMIM:252010	NDUFV1	4723	HP:0001257	Spasticity
OMIM:252010	NDUFV1	4723	HP:0000618	Blindness
OMIM:252010	NDUFV1	4723	HP:0000639	Nystagmus
OMIM:252010	NDUFV1	4723	HP:0001254	Lethargy
OMIM:252010	NDUFV1	4723	HP:0001510	Growth delay
OMIM:252010	NDUFV1	4723	HP:0001263	Global developmental delay
OMIM:252010	NDUFV1	4723	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFV1	4723	HP:0001943	Hypoglycemia
OMIM:252010	NDUFV1	4723	HP:0001347	Hyperreflexia
OMIM:252010	NDUFV1	4723	HP:0001399	Hepatic failure
OMIM:252010	NDUFV1	4723	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFV1	4723	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFV1	4723	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFV1	4723	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFV1	4723	HP:0002878	Respiratory failure
OMIM:252010	NDUFV1	4723	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFV1	4723	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFV1	4723	HP:0001324	Muscle weakness
OMIM:252010	NDUFV1	4723	HP:0000543	Optic disc pallor
OMIM:252010	NDUFV1	4723	HP:0002376	Developmental regression
OMIM:252010	NDUFV1	4723	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFV1	4723	HP:0002013	Vomiting
OMIM:252010	NDUFV1	4723	HP:0002415	Leukodystrophy
OMIM:252010	NDUFV1	4723	HP:0003487	Babinski sign
OMIM:252010	NDUFS4	4724	HP:0001250	Seizures
OMIM:252010	NDUFS4	4724	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS4	4724	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS4	4724	HP:0002181	Cerebral edema
OMIM:252010	NDUFS4	4724	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS4	4724	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS4	4724	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS4	4724	HP:0000508	Ptosis
OMIM:252010	NDUFS4	4724	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS4	4724	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS4	4724	HP:0001259	Coma
OMIM:252010	NDUFS4	4724	HP:0001508	Failure to thrive
OMIM:252010	NDUFS4	4724	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS4	4724	HP:0001251	Ataxia
OMIM:252010	NDUFS4	4724	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS4	4724	HP:0000486	Strabismus
OMIM:252010	NDUFS4	4724	HP:0001257	Spasticity
OMIM:252010	NDUFS4	4724	HP:0000618	Blindness
OMIM:252010	NDUFS4	4724	HP:0000639	Nystagmus
OMIM:252010	NDUFS4	4724	HP:0001254	Lethargy
OMIM:252010	NDUFS4	4724	HP:0001510	Growth delay
OMIM:252010	NDUFS4	4724	HP:0001263	Global developmental delay
OMIM:252010	NDUFS4	4724	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS4	4724	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS4	4724	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS4	4724	HP:0001399	Hepatic failure
OMIM:252010	NDUFS4	4724	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS4	4724	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFS4	4724	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS4	4724	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS4	4724	HP:0002878	Respiratory failure
OMIM:252010	NDUFS4	4724	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS4	4724	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS4	4724	HP:0001324	Muscle weakness
OMIM:252010	NDUFS4	4724	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS4	4724	HP:0002376	Developmental regression
OMIM:252010	NDUFS4	4724	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS4	4724	HP:0002013	Vomiting
OMIM:252010	NDUFS4	4724	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS4	4724	HP:0003487	Babinski sign
OMIM:252010	FOXRED1	55572	HP:0001250	Seizures
OMIM:252010	FOXRED1	55572	HP:0002490	Increased CSF lactate
OMIM:252010	FOXRED1	55572	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	FOXRED1	55572	HP:0002181	Cerebral edema
OMIM:252010	FOXRED1	55572	HP:0000007	Autosomal recessive inheritance
OMIM:252010	FOXRED1	55572	HP:0003128	Lactic acidosis
OMIM:252010	FOXRED1	55572	HP:0001272	Cerebellar atrophy
OMIM:252010	FOXRED1	55572	HP:0000508	Ptosis
OMIM:252010	FOXRED1	55572	HP:0001423	X-linked dominant inheritance
OMIM:252010	FOXRED1	55572	HP:0003546	Exercise intolerance
OMIM:252010	FOXRED1	55572	HP:0001259	Coma
OMIM:252010	FOXRED1	55572	HP:0001508	Failure to thrive
OMIM:252010	FOXRED1	55572	HP:0003812	Phenotypic variability
OMIM:252010	FOXRED1	55572	HP:0001251	Ataxia
OMIM:252010	FOXRED1	55572	HP:0001265	Hyporeflexia
OMIM:252010	FOXRED1	55572	HP:0000486	Strabismus
OMIM:252010	FOXRED1	55572	HP:0001257	Spasticity
OMIM:252010	FOXRED1	55572	HP:0000618	Blindness
OMIM:252010	FOXRED1	55572	HP:0000639	Nystagmus
OMIM:252010	FOXRED1	55572	HP:0001254	Lethargy
OMIM:252010	FOXRED1	55572	HP:0001510	Growth delay
OMIM:252010	FOXRED1	55572	HP:0001263	Global developmental delay
OMIM:252010	FOXRED1	55572	HP:0008872	Feeding difficulties in infancy
OMIM:252010	FOXRED1	55572	HP:0001943	Hypoglycemia
OMIM:252010	FOXRED1	55572	HP:0001347	Hyperreflexia
OMIM:252010	FOXRED1	55572	HP:0001399	Hepatic failure
OMIM:252010	FOXRED1	55572	HP:0003202	Skeletal muscle atrophy
OMIM:252010	FOXRED1	55572	HP:0001290	Generalized hypotonia
OMIM:252010	FOXRED1	55572	HP:0001427	Mitochondrial inheritance
OMIM:252010	FOXRED1	55572	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	FOXRED1	55572	HP:0002878	Respiratory failure
OMIM:252010	FOXRED1	55572	HP:0004481	Progressive macrocephaly
OMIM:252010	FOXRED1	55572	HP:0000407	Sensorineural hearing impairment
OMIM:252010	FOXRED1	55572	HP:0001324	Muscle weakness
OMIM:252010	FOXRED1	55572	HP:0000543	Optic disc pallor
OMIM:252010	FOXRED1	55572	HP:0002376	Developmental regression
OMIM:252010	FOXRED1	55572	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	FOXRED1	55572	HP:0002013	Vomiting
OMIM:252010	FOXRED1	55572	HP:0002415	Leukodystrophy
OMIM:252010	FOXRED1	55572	HP:0003487	Babinski sign
OMIM:252010	NDUFAF4	29078	HP:0001250	Seizures
OMIM:252010	NDUFAF4	29078	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF4	29078	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF4	29078	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF4	29078	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF4	29078	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF4	29078	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF4	29078	HP:0000508	Ptosis
OMIM:252010	NDUFAF4	29078	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF4	29078	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF4	29078	HP:0001259	Coma
OMIM:252010	NDUFAF4	29078	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF4	29078	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF4	29078	HP:0001251	Ataxia
OMIM:252010	NDUFAF4	29078	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF4	29078	HP:0000486	Strabismus
OMIM:252010	NDUFAF4	29078	HP:0001257	Spasticity
OMIM:252010	NDUFAF4	29078	HP:0000618	Blindness
OMIM:252010	NDUFAF4	29078	HP:0000639	Nystagmus
OMIM:252010	NDUFAF4	29078	HP:0001254	Lethargy
OMIM:252010	NDUFAF4	29078	HP:0001510	Growth delay
OMIM:252010	NDUFAF4	29078	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF4	29078	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF4	29078	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF4	29078	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF4	29078	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF4	29078	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF4	29078	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFAF4	29078	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF4	29078	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF4	29078	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF4	29078	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF4	29078	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF4	29078	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF4	29078	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF4	29078	HP:0002376	Developmental regression
OMIM:252010	NDUFAF4	29078	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF4	29078	HP:0002013	Vomiting
OMIM:252010	NDUFAF4	29078	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF4	29078	HP:0003487	Babinski sign
OMIM:252010	NDUFA1	4694	HP:0001250	Seizures
OMIM:252010	NDUFA1	4694	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFA1	4694	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFA1	4694	HP:0002181	Cerebral edema
OMIM:252010	NDUFA1	4694	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFA1	4694	HP:0003128	Lactic acidosis
OMIM:252010	NDUFA1	4694	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFA1	4694	HP:0000508	Ptosis
OMIM:252010	NDUFA1	4694	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFA1	4694	HP:0003546	Exercise intolerance
OMIM:252010	NDUFA1	4694	HP:0001259	Coma
OMIM:252010	NDUFA1	4694	HP:0001508	Failure to thrive
OMIM:252010	NDUFA1	4694	HP:0003812	Phenotypic variability
OMIM:252010	NDUFA1	4694	HP:0001251	Ataxia
OMIM:252010	NDUFA1	4694	HP:0001265	Hyporeflexia
OMIM:252010	NDUFA1	4694	HP:0000486	Strabismus
OMIM:252010	NDUFA1	4694	HP:0001257	Spasticity
OMIM:252010	NDUFA1	4694	HP:0000618	Blindness
OMIM:252010	NDUFA1	4694	HP:0000639	Nystagmus
OMIM:252010	NDUFA1	4694	HP:0001254	Lethargy
OMIM:252010	NDUFA1	4694	HP:0001510	Growth delay
OMIM:252010	NDUFA1	4694	HP:0001263	Global developmental delay
OMIM:252010	NDUFA1	4694	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFA1	4694	HP:0001943	Hypoglycemia
OMIM:252010	NDUFA1	4694	HP:0001347	Hyperreflexia
OMIM:252010	NDUFA1	4694	HP:0001399	Hepatic failure
OMIM:252010	NDUFA1	4694	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFA1	4694	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFA1	4694	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFA1	4694	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFA1	4694	HP:0002878	Respiratory failure
OMIM:252010	NDUFA1	4694	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFA1	4694	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFA1	4694	HP:0001324	Muscle weakness
OMIM:252010	NDUFA1	4694	HP:0000543	Optic disc pallor
OMIM:252010	NDUFA1	4694	HP:0002376	Developmental regression
OMIM:252010	NDUFA1	4694	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFA1	4694	HP:0002013	Vomiting
OMIM:252010	NDUFA1	4694	HP:0002415	Leukodystrophy
OMIM:252010	NDUFA1	4694	HP:0003487	Babinski sign
OMIM:252010	NDUFS6	4726	HP:0001250	Seizures
OMIM:252010	NDUFS6	4726	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS6	4726	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS6	4726	HP:0002181	Cerebral edema
OMIM:252010	NDUFS6	4726	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS6	4726	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS6	4726	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS6	4726	HP:0000508	Ptosis
OMIM:252010	NDUFS6	4726	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS6	4726	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS6	4726	HP:0001259	Coma
OMIM:252010	NDUFS6	4726	HP:0001508	Failure to thrive
OMIM:252010	NDUFS6	4726	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS6	4726	HP:0001251	Ataxia
OMIM:252010	NDUFS6	4726	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS6	4726	HP:0000486	Strabismus
OMIM:252010	NDUFS6	4726	HP:0001257	Spasticity
OMIM:252010	NDUFS6	4726	HP:0000618	Blindness
OMIM:252010	NDUFS6	4726	HP:0000639	Nystagmus
OMIM:252010	NDUFS6	4726	HP:0001254	Lethargy
OMIM:252010	NDUFS6	4726	HP:0001510	Growth delay
OMIM:252010	NDUFS6	4726	HP:0001263	Global developmental delay
OMIM:252010	NDUFS6	4726	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS6	4726	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS6	4726	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS6	4726	HP:0001399	Hepatic failure
OMIM:252010	NDUFS6	4726	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS6	4726	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFS6	4726	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS6	4726	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS6	4726	HP:0002878	Respiratory failure
OMIM:252010	NDUFS6	4726	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS6	4726	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS6	4726	HP:0001324	Muscle weakness
OMIM:252010	NDUFS6	4726	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS6	4726	HP:0002376	Developmental regression
OMIM:252010	NDUFS6	4726	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS6	4726	HP:0002013	Vomiting
OMIM:252010	NDUFS6	4726	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS6	4726	HP:0003487	Babinski sign
OMIM:252010	TMEM126B	55863	HP:0001250	Seizures
OMIM:252010	TMEM126B	55863	HP:0002490	Increased CSF lactate
OMIM:252010	TMEM126B	55863	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	TMEM126B	55863	HP:0002181	Cerebral edema
OMIM:252010	TMEM126B	55863	HP:0000007	Autosomal recessive inheritance
OMIM:252010	TMEM126B	55863	HP:0003128	Lactic acidosis
OMIM:252010	TMEM126B	55863	HP:0001272	Cerebellar atrophy
OMIM:252010	TMEM126B	55863	HP:0000508	Ptosis
OMIM:252010	TMEM126B	55863	HP:0001423	X-linked dominant inheritance
OMIM:252010	TMEM126B	55863	HP:0003546	Exercise intolerance
OMIM:252010	TMEM126B	55863	HP:0001259	Coma
OMIM:252010	TMEM126B	55863	HP:0001508	Failure to thrive
OMIM:252010	TMEM126B	55863	HP:0003812	Phenotypic variability
OMIM:252010	TMEM126B	55863	HP:0001251	Ataxia
OMIM:252010	TMEM126B	55863	HP:0001265	Hyporeflexia
OMIM:252010	TMEM126B	55863	HP:0000486	Strabismus
OMIM:252010	TMEM126B	55863	HP:0001257	Spasticity
OMIM:252010	TMEM126B	55863	HP:0000618	Blindness
OMIM:252010	TMEM126B	55863	HP:0000639	Nystagmus
OMIM:252010	TMEM126B	55863	HP:0001254	Lethargy
OMIM:252010	TMEM126B	55863	HP:0001510	Growth delay
OMIM:252010	TMEM126B	55863	HP:0001263	Global developmental delay
OMIM:252010	TMEM126B	55863	HP:0008872	Feeding difficulties in infancy
OMIM:252010	TMEM126B	55863	HP:0001943	Hypoglycemia
OMIM:252010	TMEM126B	55863	HP:0001347	Hyperreflexia
OMIM:252010	TMEM126B	55863	HP:0001399	Hepatic failure
OMIM:252010	TMEM126B	55863	HP:0003202	Skeletal muscle atrophy
OMIM:252010	TMEM126B	55863	HP:0001290	Generalized hypotonia
OMIM:252010	TMEM126B	55863	HP:0001427	Mitochondrial inheritance
OMIM:252010	TMEM126B	55863	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	TMEM126B	55863	HP:0002878	Respiratory failure
OMIM:252010	TMEM126B	55863	HP:0004481	Progressive macrocephaly
OMIM:252010	TMEM126B	55863	HP:0000407	Sensorineural hearing impairment
OMIM:252010	TMEM126B	55863	HP:0001324	Muscle weakness
OMIM:252010	TMEM126B	55863	HP:0000543	Optic disc pallor
OMIM:252010	TMEM126B	55863	HP:0002376	Developmental regression
OMIM:252010	TMEM126B	55863	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	TMEM126B	55863	HP:0002013	Vomiting
OMIM:252010	TMEM126B	55863	HP:0002415	Leukodystrophy
OMIM:252010	TMEM126B	55863	HP:0003487	Babinski sign
OMIM:252010	NDUFA11	126328	HP:0001250	Seizures
OMIM:252010	NDUFA11	126328	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFA11	126328	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFA11	126328	HP:0002181	Cerebral edema
OMIM:252010	NDUFA11	126328	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFA11	126328	HP:0003128	Lactic acidosis
OMIM:252010	NDUFA11	126328	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFA11	126328	HP:0000508	Ptosis
OMIM:252010	NDUFA11	126328	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFA11	126328	HP:0003546	Exercise intolerance
OMIM:252010	NDUFA11	126328	HP:0001259	Coma
OMIM:252010	NDUFA11	126328	HP:0001508	Failure to thrive
OMIM:252010	NDUFA11	126328	HP:0003812	Phenotypic variability
OMIM:252010	NDUFA11	126328	HP:0001251	Ataxia
OMIM:252010	NDUFA11	126328	HP:0001265	Hyporeflexia
OMIM:252010	NDUFA11	126328	HP:0000486	Strabismus
OMIM:252010	NDUFA11	126328	HP:0001257	Spasticity
OMIM:252010	NDUFA11	126328	HP:0000618	Blindness
OMIM:252010	NDUFA11	126328	HP:0000639	Nystagmus
OMIM:252010	NDUFA11	126328	HP:0001254	Lethargy
OMIM:252010	NDUFA11	126328	HP:0001510	Growth delay
OMIM:252010	NDUFA11	126328	HP:0001263	Global developmental delay
OMIM:252010	NDUFA11	126328	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFA11	126328	HP:0001943	Hypoglycemia
OMIM:252010	NDUFA11	126328	HP:0001347	Hyperreflexia
OMIM:252010	NDUFA11	126328	HP:0001399	Hepatic failure
OMIM:252010	NDUFA11	126328	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFA11	126328	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFA11	126328	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFA11	126328	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFA11	126328	HP:0002878	Respiratory failure
OMIM:252010	NDUFA11	126328	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFA11	126328	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFA11	126328	HP:0001324	Muscle weakness
OMIM:252010	NDUFA11	126328	HP:0000543	Optic disc pallor
OMIM:252010	NDUFA11	126328	HP:0002376	Developmental regression
OMIM:252010	NDUFA11	126328	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFA11	126328	HP:0002013	Vomiting
OMIM:252010	NDUFA11	126328	HP:0002415	Leukodystrophy
OMIM:252010	NDUFA11	126328	HP:0003487	Babinski sign
OMIM:252010	NDUFV2	4729	HP:0001250	Seizures
OMIM:252010	NDUFV2	4729	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFV2	4729	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFV2	4729	HP:0002181	Cerebral edema
OMIM:252010	NDUFV2	4729	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFV2	4729	HP:0003128	Lactic acidosis
OMIM:252010	NDUFV2	4729	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFV2	4729	HP:0000508	Ptosis
OMIM:252010	NDUFV2	4729	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFV2	4729	HP:0003546	Exercise intolerance
OMIM:252010	NDUFV2	4729	HP:0001259	Coma
OMIM:252010	NDUFV2	4729	HP:0001508	Failure to thrive
OMIM:252010	NDUFV2	4729	HP:0003812	Phenotypic variability
OMIM:252010	NDUFV2	4729	HP:0001251	Ataxia
OMIM:252010	NDUFV2	4729	HP:0001265	Hyporeflexia
OMIM:252010	NDUFV2	4729	HP:0000486	Strabismus
OMIM:252010	NDUFV2	4729	HP:0001257	Spasticity
OMIM:252010	NDUFV2	4729	HP:0000618	Blindness
OMIM:252010	NDUFV2	4729	HP:0000639	Nystagmus
OMIM:252010	NDUFV2	4729	HP:0001254	Lethargy
OMIM:252010	NDUFV2	4729	HP:0001510	Growth delay
OMIM:252010	NDUFV2	4729	HP:0001263	Global developmental delay
OMIM:252010	NDUFV2	4729	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFV2	4729	HP:0001943	Hypoglycemia
OMIM:252010	NDUFV2	4729	HP:0001347	Hyperreflexia
OMIM:252010	NDUFV2	4729	HP:0001399	Hepatic failure
OMIM:252010	NDUFV2	4729	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFV2	4729	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFV2	4729	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFV2	4729	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFV2	4729	HP:0002878	Respiratory failure
OMIM:252010	NDUFV2	4729	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFV2	4729	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFV2	4729	HP:0001324	Muscle weakness
OMIM:252010	NDUFV2	4729	HP:0000543	Optic disc pallor
OMIM:252010	NDUFV2	4729	HP:0002376	Developmental regression
OMIM:252010	NDUFV2	4729	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFV2	4729	HP:0002013	Vomiting
OMIM:252010	NDUFV2	4729	HP:0002415	Leukodystrophy
OMIM:252010	NDUFV2	4729	HP:0003487	Babinski sign
OMIM:252010	NDUFAF3	25915	HP:0001250	Seizures
OMIM:252010	NDUFAF3	25915	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF3	25915	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF3	25915	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF3	25915	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF3	25915	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF3	25915	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF3	25915	HP:0000508	Ptosis
OMIM:252010	NDUFAF3	25915	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF3	25915	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF3	25915	HP:0001259	Coma
OMIM:252010	NDUFAF3	25915	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF3	25915	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF3	25915	HP:0001251	Ataxia
OMIM:252010	NDUFAF3	25915	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF3	25915	HP:0000486	Strabismus
OMIM:252010	NDUFAF3	25915	HP:0001257	Spasticity
OMIM:252010	NDUFAF3	25915	HP:0000618	Blindness
OMIM:252010	NDUFAF3	25915	HP:0000639	Nystagmus
OMIM:252010	NDUFAF3	25915	HP:0001254	Lethargy
OMIM:252010	NDUFAF3	25915	HP:0001510	Growth delay
OMIM:252010	NDUFAF3	25915	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF3	25915	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF3	25915	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF3	25915	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF3	25915	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF3	25915	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF3	25915	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFAF3	25915	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF3	25915	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF3	25915	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF3	25915	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF3	25915	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF3	25915	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF3	25915	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF3	25915	HP:0002376	Developmental regression
OMIM:252010	NDUFAF3	25915	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF3	25915	HP:0002013	Vomiting
OMIM:252010	NDUFAF3	25915	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF3	25915	HP:0003487	Babinski sign
OMIM:252010	NDUFAF5	79133	HP:0001250	Seizures
OMIM:252010	NDUFAF5	79133	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF5	79133	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF5	79133	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF5	79133	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF5	79133	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF5	79133	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF5	79133	HP:0000508	Ptosis
OMIM:252010	NDUFAF5	79133	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF5	79133	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF5	79133	HP:0001259	Coma
OMIM:252010	NDUFAF5	79133	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF5	79133	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF5	79133	HP:0001251	Ataxia
OMIM:252010	NDUFAF5	79133	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF5	79133	HP:0000486	Strabismus
OMIM:252010	NDUFAF5	79133	HP:0001257	Spasticity
OMIM:252010	NDUFAF5	79133	HP:0000618	Blindness
OMIM:252010	NDUFAF5	79133	HP:0000639	Nystagmus
OMIM:252010	NDUFAF5	79133	HP:0001254	Lethargy
OMIM:252010	NDUFAF5	79133	HP:0001510	Growth delay
OMIM:252010	NDUFAF5	79133	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF5	79133	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF5	79133	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF5	79133	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF5	79133	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF5	79133	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF5	79133	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFAF5	79133	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF5	79133	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF5	79133	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF5	79133	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF5	79133	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF5	79133	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF5	79133	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF5	79133	HP:0002376	Developmental regression
OMIM:252010	NDUFAF5	79133	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF5	79133	HP:0002013	Vomiting
OMIM:252010	NDUFAF5	79133	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF5	79133	HP:0003487	Babinski sign
OMIM:252010	NDUFAF1	51103	HP:0001250	Seizures
OMIM:252010	NDUFAF1	51103	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF1	51103	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF1	51103	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF1	51103	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF1	51103	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF1	51103	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF1	51103	HP:0000508	Ptosis
OMIM:252010	NDUFAF1	51103	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF1	51103	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF1	51103	HP:0001259	Coma
OMIM:252010	NDUFAF1	51103	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF1	51103	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF1	51103	HP:0001251	Ataxia
OMIM:252010	NDUFAF1	51103	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF1	51103	HP:0000486	Strabismus
OMIM:252010	NDUFAF1	51103	HP:0001257	Spasticity
OMIM:252010	NDUFAF1	51103	HP:0000618	Blindness
OMIM:252010	NDUFAF1	51103	HP:0000639	Nystagmus
OMIM:252010	NDUFAF1	51103	HP:0001254	Lethargy
OMIM:252010	NDUFAF1	51103	HP:0001510	Growth delay
OMIM:252010	NDUFAF1	51103	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF1	51103	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF1	51103	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF1	51103	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF1	51103	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF1	51103	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF1	51103	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFAF1	51103	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF1	51103	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF1	51103	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF1	51103	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF1	51103	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF1	51103	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF1	51103	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF1	51103	HP:0002376	Developmental regression
OMIM:252010	NDUFAF1	51103	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF1	51103	HP:0002013	Vomiting
OMIM:252010	NDUFAF1	51103	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF1	51103	HP:0003487	Babinski sign
OMIM:612936	AP4M1	9179	HP:0000007	Autosomal recessive inheritance
OMIM:612936	AP4M1	9179	HP:0100021	Cerebral palsy
OMIM:612936	AP4M1	9179	HP:0010864	Intellectual disability, severe
OMIM:612936	AP4M1	9179	HP:0000486	Strabismus
OMIM:612936	AP4M1	9179	HP:0006887	Intellectual disability, progressive
OMIM:612936	AP4M1	9179	HP:0002119	Ventriculomegaly
OMIM:612936	AP4M1	9179	HP:0000252	Microcephaly
OMIM:612936	AP4M1	9179	HP:0001263	Global developmental delay
OMIM:612936	AP4M1	9179	HP:0012811	Wide nasal ridge
OMIM:612936	AP4M1	9179	HP:0003577	Congenital onset
OMIM:612936	AP4M1	9179	HP:0000154	Wide mouth
OMIM:612936	AP4M1	9179	HP:0002307	Drooling
OMIM:612936	AP4M1	9179	HP:0000303	Mandibular prognathia
OMIM:612936	AP4M1	9179	HP:0001319	Neonatal hypotonia
OMIM:612936	AP4M1	9179	HP:0000341	Narrow forehead
OMIM:612936	AP4M1	9179	HP:0001347	Hyperreflexia
OMIM:612936	AP4M1	9179	HP:0002510	Spastic tetraplegia
OMIM:612936	AP4M1	9179	HP:0001762	Talipes equinovarus
OMIM:612936	AP4M1	9179	HP:0002171	Gliosis
OMIM:612936	AP4M1	9179	HP:0000322	Short philtrum
OMIM:612936	AP4M1	9179	HP:0001272	Cerebellar atrophy
OMIM:612936	AP4M1	9179	HP:0000280	Coarse facial features
OMIM:612936	AP4M1	9179	HP:0000414	Bulbous nose
OMIM:612936	AP4M1	9179	HP:0003487	Babinski sign
OMIM:612936	AP4M1	9179	HP:0001258	Spastic paraplegia
OMIM:612936	AP4M1	9179	HP:0001181	Adducted thumb
OMIM:612936	AP4M1	9179	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612936	AP4M1	9179	HP:0002200	Pseudobulbar signs
OMIM:612936	AP4M1	9179	HP:0001250	Seizures
OMIM:612936	AP4M1	9179	HP:0000218	High palate
OMIM:600309	GJA1	2697	HP:0002092	Pulmonary arterial hypertension
OMIM:600309	GJA1	2697	HP:0011705	First degree atrioventricular block
OMIM:600309	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:600309	GJA1	2697	HP:0001635	Congestive heart failure
OMIM:600309	GJA1	2697	HP:0000961	Cyanosis
OMIM:600309	GJA1	2697	HP:0010445	Primum atrial septal defect
OMIM:600309	GJA1	2697	HP:0011622	Inlet ventricular septal defect
OMIM:122000	VSX1	30813	HP:0000613	Photophobia
OMIM:122000	VSX1	30813	HP:0009926	Increased lacrimation
OMIM:122000	VSX1	30813	HP:0007915	Polymorphous posterior corneal dystrophy
OMIM:122000	VSX1	30813	HP:0000501	Glaucoma
OMIM:122000	VSX1	30813	HP:0000585	Band keratopathy
OMIM:122000	VSX1	30813	HP:0025358	Uveal ectropion
OMIM:122000	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:122000	VSX1	30813	HP:0011483	Anterior synechiae of the anterior chamber
OMIM:122000	VSX1	30813	HP:0011490	Abnormality of Descemet's membrane
OMIM:122000	OVOL2	58495	HP:0000613	Photophobia
OMIM:122000	OVOL2	58495	HP:0009926	Increased lacrimation
OMIM:122000	OVOL2	58495	HP:0007915	Polymorphous posterior corneal dystrophy
OMIM:122000	OVOL2	58495	HP:0000501	Glaucoma
OMIM:122000	OVOL2	58495	HP:0000585	Band keratopathy
OMIM:122000	OVOL2	58495	HP:0025358	Uveal ectropion
OMIM:122000	OVOL2	58495	HP:0000006	Autosomal dominant inheritance
OMIM:122000	OVOL2	58495	HP:0011483	Anterior synechiae of the anterior chamber
OMIM:122000	OVOL2	58495	HP:0011490	Abnormality of Descemet's membrane
OMIM:606574	SLC45A2	51151	HP:0000635	Blue irides
OMIM:606574	SLC45A2	51151	HP:0005599	Hypopigmentation of hair
OMIM:606574	SLC45A2	51151	HP:0000007	Autosomal recessive inheritance
OMIM:606574	SLC45A2	51151	HP:0000639	Nystagmus
OMIM:606574	SLC45A2	51151	HP:0001104	Macular hypoplasia
OMIM:606574	SLC45A2	51151	HP:0007894	Hypopigmentation of the fundus
OMIM:606574	SLC45A2	51151	HP:0001022	Albinism
OMIM:606574	SLC45A2	51151	HP:0000505	Visual impairment
OMIM:174810	TNFRSF11A	8792	HP:0003080	Hydroxyprolinuria
OMIM:174810	TNFRSF11A	8792	HP:0002756	Pathologic fracture
OMIM:174810	TNFRSF11A	8792	HP:0003676	Progressive
OMIM:174810	TNFRSF11A	8792	HP:0000006	Autosomal dominant inheritance
OMIM:174810	TNFRSF11A	8792	HP:0002653	Bone pain
OMIM:174810	TNFRSF11A	8792	HP:0006480	Premature loss of teeth
OMIM:174810	TNFRSF11A	8792	HP:0000405	Conductive hearing impairment
OMIM:174810	TNFRSF11A	8792	HP:0006487	Bowing of the long bones
OMIM:174810	TNFRSF11A	8792	HP:0025124	Fragile teeth
OMIM:174810	TNFRSF11A	8792	HP:0003155	Elevated alkaline phosphatase
OMIM:174810	TNFRSF11A	8792	HP:0002753	Thin bony cortex
OMIM:174810	TNFRSF11A	8792	HP:0002797	Osteolysis
OMIM:264350	SCNN1A	6337	HP:0000841	Hyperactive renin-angiotensin system
OMIM:264350	SCNN1A	6337	HP:0000859	Hyperaldosteronism
OMIM:264350	SCNN1A	6337	HP:0001508	Failure to thrive
OMIM:264350	SCNN1A	6337	HP:0001944	Dehydration
OMIM:264350	SCNN1A	6337	HP:0002013	Vomiting
OMIM:264350	SCNN1A	6337	HP:0002902	Hyponatremia
OMIM:264350	SCNN1A	6337	HP:0002615	Hypotension
OMIM:264350	SCNN1A	6337	HP:0003593	Infantile onset
OMIM:264350	SCNN1A	6337	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1A	6337	HP:0008242	Pseudohypoaldosteronism
OMIM:264350	SCNN1A	6337	HP:0000127	Renal salt wasting
OMIM:264350	SCNN1A	6337	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1A	6337	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1A	6337	HP:0002014	Diarrhea
OMIM:264350	SCNN1A	6337	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1A	6337	HP:0001942	Metabolic acidosis
OMIM:264350	SCNN1B	6338	HP:0000841	Hyperactive renin-angiotensin system
OMIM:264350	SCNN1B	6338	HP:0000859	Hyperaldosteronism
OMIM:264350	SCNN1B	6338	HP:0001508	Failure to thrive
OMIM:264350	SCNN1B	6338	HP:0001944	Dehydration
OMIM:264350	SCNN1B	6338	HP:0002013	Vomiting
OMIM:264350	SCNN1B	6338	HP:0002902	Hyponatremia
OMIM:264350	SCNN1B	6338	HP:0002615	Hypotension
OMIM:264350	SCNN1B	6338	HP:0003593	Infantile onset
OMIM:264350	SCNN1B	6338	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1B	6338	HP:0008242	Pseudohypoaldosteronism
OMIM:264350	SCNN1B	6338	HP:0000127	Renal salt wasting
OMIM:264350	SCNN1B	6338	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1B	6338	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1B	6338	HP:0002014	Diarrhea
OMIM:264350	SCNN1B	6338	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1B	6338	HP:0001942	Metabolic acidosis
OMIM:264350	SCNN1G	6340	HP:0000841	Hyperactive renin-angiotensin system
OMIM:264350	SCNN1G	6340	HP:0000859	Hyperaldosteronism
OMIM:264350	SCNN1G	6340	HP:0001508	Failure to thrive
OMIM:264350	SCNN1G	6340	HP:0001944	Dehydration
OMIM:264350	SCNN1G	6340	HP:0002013	Vomiting
OMIM:264350	SCNN1G	6340	HP:0002902	Hyponatremia
OMIM:264350	SCNN1G	6340	HP:0002615	Hypotension
OMIM:264350	SCNN1G	6340	HP:0003593	Infantile onset
OMIM:264350	SCNN1G	6340	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1G	6340	HP:0008242	Pseudohypoaldosteronism
OMIM:264350	SCNN1G	6340	HP:0000127	Renal salt wasting
OMIM:264350	SCNN1G	6340	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1G	6340	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1G	6340	HP:0002014	Diarrhea
OMIM:264350	SCNN1G	6340	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1G	6340	HP:0001942	Metabolic acidosis
OMIM:222470	TTC37	9652	HP:0001394	Cirrhosis
OMIM:222470	TTC37	9652	HP:0002299	Brittle hair
OMIM:222470	TTC37	9652	HP:0001396	Cholestasis
OMIM:222470	TTC37	9652	HP:0001508	Failure to thrive
OMIM:222470	TTC37	9652	HP:0009891	Underdeveloped supraorbital ridges
OMIM:222470	TTC37	9652	HP:0001399	Hepatic failure
OMIM:222470	TTC37	9652	HP:0008551	Microtia
OMIM:222470	TTC37	9652	HP:0001561	Polyhydramnios
OMIM:222470	TTC37	9652	HP:0011220	Prominent forehead
OMIM:222470	TTC37	9652	HP:0003073	Hypoalbuminemia
OMIM:222470	TTC37	9652	HP:0008070	Sparse hair
OMIM:222470	TTC37	9652	HP:0000445	Wide nose
OMIM:222470	TTC37	9652	HP:0002007	Frontal bossing
OMIM:222470	TTC37	9652	HP:0000007	Autosomal recessive inheritance
OMIM:222470	TTC37	9652	HP:0012023	Galactosuria
OMIM:222470	TTC37	9652	HP:0000316	Hypertelorism
OMIM:222470	TTC37	9652	HP:0000952	Jaundice
OMIM:222470	TTC37	9652	HP:0002240	Hepatomegaly
OMIM:222470	TTC37	9652	HP:0011031	Abnormality of iron homeostasis
OMIM:222470	TTC37	9652	HP:0001395	Hepatic fibrosis
OMIM:222470	TTC37	9652	HP:0000154	Wide mouth
OMIM:222470	TTC37	9652	HP:0000463	Anteverted nares
OMIM:222470	TTC37	9652	HP:0001732	Abnormality of the pancreas
OMIM:222470	TTC37	9652	HP:0006267	Large placenta
OMIM:222470	TTC37	9652	HP:0000193	Bifid uvula
OMIM:222470	TTC37	9652	HP:0002213	Fine hair
OMIM:222470	TTC37	9652	HP:0002715	Abnormality of the immune system
OMIM:222470	TTC37	9652	HP:0002224	Woolly hair
OMIM:222470	TTC37	9652	HP:0009886	Trichorrhexis nodosa
OMIM:222470	TTC37	9652	HP:0000369	Low-set ears
OMIM:222470	TTC37	9652	HP:0100543	Cognitive impairment
OMIM:222470	TTC37	9652	HP:0002212	Curly hair
OMIM:222470	TTC37	9652	HP:0002041	Intractable diarrhea
OMIM:222470	TTC37	9652	HP:0000343	Long philtrum
OMIM:222470	TTC37	9652	HP:0001518	Small for gestational age
OMIM:222470	TTC37	9652	HP:0011473	Villous atrophy
OMIM:222470	TTC37	9652	HP:0000520	Proptosis
OMIM:222470	TTC37	9652	HP:0000494	Downslanted palpebral fissures
OMIM:222470	TTC37	9652	HP:0000457	Depressed nasal ridge
OMIM:222470	TTC37	9652	HP:0000160	Narrow mouth
OMIM:222470	TTC37	9652	HP:0002014	Diarrhea
OMIM:222470	TTC37	9652	HP:0001511	Intrauterine growth retardation
OMIM:222470	TTC37	9652	HP:0004734	Renal cortical microcysts
OMIM:222470	TTC37	9652	HP:0003235	Hypermethioninemia
OMIM:222470	TTC37	9652	HP:0004322	Short stature
OMIM:601492	HYAL1	3373	HP:0000007	Autosomal recessive inheritance
OMIM:601492	HYAL1	3373	HP:0012069	Keratan sulfate excretion in urine
OMIM:601492	HYAL1	3373	HP:0003170	Abnormality of the acetabulum
OMIM:601492	HYAL1	3373	HP:0000176	Submucous cleft hard palate
OMIM:601492	HYAL1	3373	HP:0000951	Abnormality of the skin
OMIM:601492	HYAL1	3373	HP:0002159	Heparan sulfate excretion in urine
OMIM:601492	HYAL1	3373	HP:0005280	Depressed nasal bridge
OMIM:601492	HYAL1	3373	HP:0000193	Bifid uvula
OMIM:601492	HYAL1	3373	HP:0004322	Short stature
OMIM:601492	HYAL1	3373	HP:0000403	Recurrent otitis media
ORPHA:758	ABCC6	368	HP:0000988	Skin rash
ORPHA:758	ABCC6	368	HP:0007392	Excessive wrinkled skin
ORPHA:758	ABCC6	368	HP:0000488	Retinopathy
ORPHA:758	ABCC6	368	HP:0000545	Myopia
ORPHA:758	ABCC6	368	HP:0000978	Bruising susceptibility
ORPHA:758	ABCC6	368	HP:0001102	Angioid streaks of the retina
ORPHA:758	ABCC6	368	HP:0000573	Retinal hemorrhage
ORPHA:758	ABCC6	368	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:758	ABCC6	368	HP:0000474	Thickened nuchal skin fold
ORPHA:758	ABCC6	368	HP:0001065	Striae distensae
ORPHA:758	ENPP1	5167	HP:0000988	Skin rash
ORPHA:758	ENPP1	5167	HP:0007392	Excessive wrinkled skin
ORPHA:758	ENPP1	5167	HP:0000488	Retinopathy
ORPHA:758	ENPP1	5167	HP:0000545	Myopia
ORPHA:758	ENPP1	5167	HP:0000978	Bruising susceptibility
ORPHA:758	ENPP1	5167	HP:0001102	Angioid streaks of the retina
ORPHA:758	ENPP1	5167	HP:0000573	Retinal hemorrhage
ORPHA:758	ENPP1	5167	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:758	ENPP1	5167	HP:0000474	Thickened nuchal skin fold
ORPHA:758	ENPP1	5167	HP:0001065	Striae distensae
OMIM:209885	TWIST2	117581	HP:0000414	Bulbous nose
OMIM:209885	TWIST2	117581	HP:0000430	Underdeveloped nasal alae
OMIM:209885	TWIST2	117581	HP:0000656	Ectropion
OMIM:209885	TWIST2	117581	HP:0000958	Dry skin
OMIM:209885	TWIST2	117581	HP:0000154	Wide mouth
OMIM:209885	TWIST2	117581	HP:0001582	Redundant skin
OMIM:209885	TWIST2	117581	HP:0004334	Dermal atrophy
OMIM:209885	TWIST2	117581	HP:0000369	Low-set ears
OMIM:209885	TWIST2	117581	HP:0000535	Sparse and thin eyebrow
OMIM:209885	TWIST2	117581	HP:0000506	Telecanthus
OMIM:209885	TWIST2	117581	HP:0000006	Autosomal dominant inheritance
OMIM:209885	TWIST2	117581	HP:0000032	Abnormality of male external genitalia
OMIM:209885	TWIST2	117581	HP:0000055	Abnormality of female external genitalia
OMIM:209885	TWIST2	117581	HP:0000365	Hearing impairment
OMIM:209885	TWIST2	117581	HP:0000316	Hypertelorism
OMIM:209885	TWIST2	117581	HP:0000377	Abnormality of the pinna
OMIM:209885	TWIST2	117581	HP:0000233	Thin vermilion border
OMIM:209885	TWIST2	117581	HP:0000998	Hypertrichosis
OMIM:209885	TWIST2	117581	HP:0002557	Hypoplastic nipples
OMIM:209885	TWIST2	117581	HP:0000303	Mandibular prognathia
OMIM:610951	MFSD8	256471	HP:0003621	Juvenile onset
OMIM:610951	MFSD8	256471	HP:0000488	Retinopathy
OMIM:610951	MFSD8	256471	HP:0000618	Blindness
OMIM:610951	MFSD8	256471	HP:0001268	Mental deterioration
OMIM:610951	MFSD8	256471	HP:0002180	Neurodegeneration
OMIM:610951	MFSD8	256471	HP:0002353	EEG abnormality
OMIM:610951	MFSD8	256471	HP:0000750	Delayed speech and language development
OMIM:610951	MFSD8	256471	HP:0002059	Cerebral atrophy
OMIM:610951	MFSD8	256471	HP:0001251	Ataxia
OMIM:610951	MFSD8	256471	HP:0002123	Generalized myoclonic seizures
OMIM:610951	MFSD8	256471	HP:0003678	Rapidly progressive
OMIM:610951	MFSD8	256471	HP:0000572	Visual loss
OMIM:610951	MFSD8	256471	HP:0000580	Pigmentary retinopathy
OMIM:610951	MFSD8	256471	HP:0000648	Optic atrophy
OMIM:610951	MFSD8	256471	HP:0001263	Global developmental delay
OMIM:610951	MFSD8	256471	HP:0002360	Sleep disturbance
OMIM:610951	MFSD8	256471	HP:0001272	Cerebellar atrophy
OMIM:610951	MFSD8	256471	HP:0000007	Autosomal recessive inheritance
OMIM:160150	DNM2	1785	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	DNM2	1785	HP:0003701	Proximal muscle weakness
OMIM:160150	DNM2	1785	HP:0003677	Slow progression
OMIM:160150	DNM2	1785	HP:0010628	Facial palsy
OMIM:160150	DNM2	1785	HP:0000508	Ptosis
OMIM:160150	DNM2	1785	HP:0000544	External ophthalmoplegia
OMIM:160150	DNM2	1785	HP:0003388	Easy fatigability
OMIM:160150	DNM2	1785	HP:0001284	Areflexia
OMIM:160150	DNM2	1785	HP:0000006	Autosomal dominant inheritance
OMIM:160150	DNM2	1785	HP:0001371	Flexion contracture
OMIM:160150	DNM2	1785	HP:0005335	Sleepy facial expression
OMIM:160150	DNM2	1785	HP:0001270	Motor delay
OMIM:222300	WFS1	7466	HP:0000011	Neurogenic bladder
OMIM:222300	WFS1	7466	HP:0000639	Nystagmus
OMIM:222300	WFS1	7466	HP:0002401	Stroke-like episode
OMIM:222300	WFS1	7466	HP:0000508	Ptosis
OMIM:222300	WFS1	7466	HP:0000819	Diabetes mellitus
OMIM:222300	WFS1	7466	HP:0001260	Dysarthria
OMIM:222300	WFS1	7466	HP:0002015	Dysphagia
OMIM:222300	WFS1	7466	HP:0000007	Autosomal recessive inheritance
OMIM:222300	WFS1	7466	HP:0000648	Optic atrophy
OMIM:222300	WFS1	7466	HP:0001251	Ataxia
OMIM:222300	WFS1	7466	HP:0000873	Diabetes insipidus
OMIM:222300	WFS1	7466	HP:0000126	Hydronephrosis
OMIM:222300	WFS1	7466	HP:0001250	Seizures
OMIM:222300	WFS1	7466	HP:0000072	Hydroureter
OMIM:222300	WFS1	7466	HP:0000580	Pigmentary retinopathy
OMIM:222300	WFS1	7466	HP:0002059	Cerebral atrophy
OMIM:222300	WFS1	7466	HP:0001638	Cardiomyopathy
OMIM:222300	WFS1	7466	HP:0001873	Thrombocytopenia
OMIM:222300	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:222300	WFS1	7466	HP:0000708	Behavioral abnormality
OMIM:222300	WFS1	7466	HP:0000029	Testicular atrophy
OMIM:222300	WFS1	7466	HP:0006217	Limited mobility of proximal interphalangeal joint
OMIM:222300	WFS1	7466	HP:0000821	Hypothyroidism
OMIM:222300	WFS1	7466	HP:0001337	Tremor
OMIM:222300	WFS1	7466	HP:0001924	Sideroblastic anemia
OMIM:222300	WFS1	7466	HP:0001510	Growth delay
OMIM:222300	WFS1	7466	HP:0001889	Megaloblastic anemia
OMIM:222300	WFS1	7466	HP:0001249	Intellectual disability
OMIM:614564	ATR	545	HP:0001596	Alopecia
OMIM:614564	ATR	545	HP:0001009	Telangiectasia
OMIM:614564	ATR	545	HP:0000006	Autosomal dominant inheritance
OMIM:614564	ATR	545	HP:0006297	Hypoplasia of dental enamel
OMIM:614564	ATR	545	HP:0000670	Carious teeth
OMIM:608358	MYH7	4625	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:608358	MYH7	4625	HP:0009055	Generalized limb muscle atrophy
OMIM:608358	MYH7	4625	HP:0002515	Waddling gait
OMIM:608358	MYH7	4625	HP:0003697	Scapuloperoneal amyotrophy
OMIM:608358	MYH7	4625	HP:0003677	Slow progression
OMIM:608358	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:608358	MYH7	4625	HP:0003674	Onset
OMIM:608358	MYH7	4625	HP:0003691	Scapular winging
OMIM:608358	MYH7	4625	HP:0003704	Scapuloperoneal weakness
OMIM:608358	MYH7	4625	HP:0003803	Type 1 muscle fiber predominance
OMIM:608358	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608358	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:608358	MYH7	4625	HP:0003707	Calf muscle pseudohypertrophy
OMIM:608358	MYH7	4625	HP:0001626	Abnormality of the cardiovascular system
OMIM:608358	MYH7	4625	HP:0002792	Reduced vital capacity
OMIM:608358	MYH7	4625	HP:0003324	Generalized muscle weakness
OMIM:173100	GH1	2688	HP:0000824	Growth hormone deficiency
OMIM:173100	GH1	2688	HP:0000839	Pituitary dwarfism
OMIM:173100	GH1	2688	HP:0000006	Autosomal dominant inheritance
OMIM:173100	GH1	2688	HP:0003510	Severe short stature
OMIM:614816	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:614816	TGFB2	7042	HP:0000098	Tall stature
OMIM:614816	TGFB2	7042	HP:0100775	Dural ectasia
OMIM:614816	TGFB2	7042	HP:0000023	Inguinal hernia
OMIM:614816	TGFB2	7042	HP:0000978	Bruising susceptibility
OMIM:614816	TGFB2	7042	HP:0002647	Aortic dissection
OMIM:614816	TGFB2	7042	HP:0000766	Abnormality of the sternum
OMIM:614816	TGFB2	7042	HP:0002650	Scoliosis
OMIM:614816	TGFB2	7042	HP:0001634	Mitral valve prolapse
OMIM:614816	TGFB2	7042	HP:0001166	Arachnodactyly
OMIM:614816	TGFB2	7042	HP:0001763	Pes planus
OMIM:614816	TGFB2	7042	HP:0000278	Retrognathia
OMIM:614816	TGFB2	7042	HP:0000218	High palate
OMIM:614816	TGFB2	7042	HP:0005116	Arterial tortuosity
OMIM:614816	TGFB2	7042	HP:0005692	Joint hyperflexibility
OMIM:268700	AASS	10157	HP:0001264	Spastic diplegia
OMIM:268700	AASS	10157	HP:0004322	Short stature
OMIM:268700	AASS	10157	HP:0003297	Hyperlysinuria
OMIM:268700	AASS	10157	HP:0002353	EEG abnormality
OMIM:268700	AASS	10157	HP:0002927	Histidinuria
OMIM:268700	AASS	10157	HP:0000007	Autosomal recessive inheritance
OMIM:268700	AASS	10157	HP:0001249	Intellectual disability
ORPHA:586	TGFB1	7040	HP:0002205	Recurrent respiratory infections
ORPHA:586	TGFB1	7040	HP:0002206	Pulmonary fibrosis
ORPHA:586	TGFB1	7040	HP:0002024	Malabsorption
ORPHA:586	TGFB1	7040	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:586	TGFB1	7040	HP:0002613	Biliary cirrhosis
ORPHA:586	TGFB1	7040	HP:0002721	Immunodeficiency
ORPHA:586	TGFB1	7040	HP:0004313	Decreased antibody level in blood
ORPHA:586	CLCA4	22802	HP:0002205	Recurrent respiratory infections
ORPHA:586	CLCA4	22802	HP:0002206	Pulmonary fibrosis
ORPHA:586	CLCA4	22802	HP:0002024	Malabsorption
ORPHA:586	CLCA4	22802	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:586	CLCA4	22802	HP:0002613	Biliary cirrhosis
ORPHA:586	CLCA4	22802	HP:0002721	Immunodeficiency
ORPHA:586	CLCA4	22802	HP:0004313	Decreased antibody level in blood
ORPHA:586	STX1A	6804	HP:0002205	Recurrent respiratory infections
ORPHA:586	STX1A	6804	HP:0002206	Pulmonary fibrosis
ORPHA:586	STX1A	6804	HP:0002024	Malabsorption
ORPHA:586	STX1A	6804	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:586	STX1A	6804	HP:0002613	Biliary cirrhosis
ORPHA:586	STX1A	6804	HP:0002721	Immunodeficiency
ORPHA:586	STX1A	6804	HP:0004313	Decreased antibody level in blood
ORPHA:586	CFTR	1080	HP:0002205	Recurrent respiratory infections
ORPHA:586	CFTR	1080	HP:0002206	Pulmonary fibrosis
ORPHA:586	CFTR	1080	HP:0002024	Malabsorption
ORPHA:586	CFTR	1080	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:586	CFTR	1080	HP:0002613	Biliary cirrhosis
ORPHA:586	CFTR	1080	HP:0002721	Immunodeficiency
ORPHA:586	CFTR	1080	HP:0004313	Decreased antibody level in blood
ORPHA:586	DCTN4	51164	HP:0002205	Recurrent respiratory infections
ORPHA:586	DCTN4	51164	HP:0002206	Pulmonary fibrosis
ORPHA:586	DCTN4	51164	HP:0002024	Malabsorption
ORPHA:586	DCTN4	51164	HP:0001738	Exocrine pancreatic insufficiency
ORPHA:586	DCTN4	51164	HP:0002613	Biliary cirrhosis
ORPHA:586	DCTN4	51164	HP:0002721	Immunodeficiency
ORPHA:586	DCTN4	51164	HP:0004313	Decreased antibody level in blood
ORPHA:79394	ALOXE3	59344	HP:0001508	Failure to thrive
ORPHA:79394	ALOXE3	59344	HP:0200020	Corneal erosion
ORPHA:79394	ALOXE3	59344	HP:0000491	Keratitis
ORPHA:79394	ALOXE3	59344	HP:0001019	Erythroderma
ORPHA:79394	ALOXE3	59344	HP:0000365	Hearing impairment
ORPHA:79394	ALOXE3	59344	HP:0000656	Ectropion
ORPHA:79394	ALOXE3	59344	HP:0000966	Hypohidrosis
ORPHA:79394	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHA:79394	ALOXE3	59344	HP:0001596	Alopecia
ORPHA:79394	ALOXE3	59344	HP:0001597	Abnormality of the nail
ORPHA:79394	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	ALOXE3	59344	HP:0000989	Pruritus
ORPHA:79394	ALOX12B	242	HP:0001508	Failure to thrive
ORPHA:79394	ALOX12B	242	HP:0200020	Corneal erosion
ORPHA:79394	ALOX12B	242	HP:0000491	Keratitis
ORPHA:79394	ALOX12B	242	HP:0001019	Erythroderma
ORPHA:79394	ALOX12B	242	HP:0000365	Hearing impairment
ORPHA:79394	ALOX12B	242	HP:0000656	Ectropion
ORPHA:79394	ALOX12B	242	HP:0000966	Hypohidrosis
ORPHA:79394	ALOX12B	242	HP:0008064	Ichthyosis
ORPHA:79394	ALOX12B	242	HP:0001596	Alopecia
ORPHA:79394	ALOX12B	242	HP:0001597	Abnormality of the nail
ORPHA:79394	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	ALOX12B	242	HP:0000989	Pruritus
ORPHA:79394	CERS3	204219	HP:0001508	Failure to thrive
ORPHA:79394	CERS3	204219	HP:0200020	Corneal erosion
ORPHA:79394	CERS3	204219	HP:0000491	Keratitis
ORPHA:79394	CERS3	204219	HP:0001019	Erythroderma
ORPHA:79394	CERS3	204219	HP:0000365	Hearing impairment
ORPHA:79394	CERS3	204219	HP:0000656	Ectropion
ORPHA:79394	CERS3	204219	HP:0000966	Hypohidrosis
ORPHA:79394	CERS3	204219	HP:0008064	Ichthyosis
ORPHA:79394	CERS3	204219	HP:0001596	Alopecia
ORPHA:79394	CERS3	204219	HP:0001597	Abnormality of the nail
ORPHA:79394	CERS3	204219	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	CERS3	204219	HP:0000989	Pruritus
ORPHA:79394	ABCA12	26154	HP:0001508	Failure to thrive
ORPHA:79394	ABCA12	26154	HP:0200020	Corneal erosion
ORPHA:79394	ABCA12	26154	HP:0000491	Keratitis
ORPHA:79394	ABCA12	26154	HP:0001019	Erythroderma
ORPHA:79394	ABCA12	26154	HP:0000365	Hearing impairment
ORPHA:79394	ABCA12	26154	HP:0000656	Ectropion
ORPHA:79394	ABCA12	26154	HP:0000966	Hypohidrosis
ORPHA:79394	ABCA12	26154	HP:0008064	Ichthyosis
ORPHA:79394	ABCA12	26154	HP:0001596	Alopecia
ORPHA:79394	ABCA12	26154	HP:0001597	Abnormality of the nail
ORPHA:79394	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	ABCA12	26154	HP:0000989	Pruritus
ORPHA:79394	TGM1	7051	HP:0001508	Failure to thrive
ORPHA:79394	TGM1	7051	HP:0200020	Corneal erosion
ORPHA:79394	TGM1	7051	HP:0000491	Keratitis
ORPHA:79394	TGM1	7051	HP:0001019	Erythroderma
ORPHA:79394	TGM1	7051	HP:0000365	Hearing impairment
ORPHA:79394	TGM1	7051	HP:0000656	Ectropion
ORPHA:79394	TGM1	7051	HP:0000966	Hypohidrosis
ORPHA:79394	TGM1	7051	HP:0008064	Ichthyosis
ORPHA:79394	TGM1	7051	HP:0001596	Alopecia
ORPHA:79394	TGM1	7051	HP:0001597	Abnormality of the nail
ORPHA:79394	TGM1	7051	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	TGM1	7051	HP:0000989	Pruritus
ORPHA:79394	PNPLA1	285848	HP:0001508	Failure to thrive
ORPHA:79394	PNPLA1	285848	HP:0200020	Corneal erosion
ORPHA:79394	PNPLA1	285848	HP:0000491	Keratitis
ORPHA:79394	PNPLA1	285848	HP:0001019	Erythroderma
ORPHA:79394	PNPLA1	285848	HP:0000365	Hearing impairment
ORPHA:79394	PNPLA1	285848	HP:0000656	Ectropion
ORPHA:79394	PNPLA1	285848	HP:0000966	Hypohidrosis
ORPHA:79394	PNPLA1	285848	HP:0008064	Ichthyosis
ORPHA:79394	PNPLA1	285848	HP:0001596	Alopecia
ORPHA:79394	PNPLA1	285848	HP:0001597	Abnormality of the nail
ORPHA:79394	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	PNPLA1	285848	HP:0000989	Pruritus
ORPHA:79394	NIPAL4	348938	HP:0001508	Failure to thrive
ORPHA:79394	NIPAL4	348938	HP:0200020	Corneal erosion
ORPHA:79394	NIPAL4	348938	HP:0000491	Keratitis
ORPHA:79394	NIPAL4	348938	HP:0001019	Erythroderma
ORPHA:79394	NIPAL4	348938	HP:0000365	Hearing impairment
ORPHA:79394	NIPAL4	348938	HP:0000656	Ectropion
ORPHA:79394	NIPAL4	348938	HP:0000966	Hypohidrosis
ORPHA:79394	NIPAL4	348938	HP:0008064	Ichthyosis
ORPHA:79394	NIPAL4	348938	HP:0001596	Alopecia
ORPHA:79394	NIPAL4	348938	HP:0001597	Abnormality of the nail
ORPHA:79394	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
ORPHA:79394	NIPAL4	348938	HP:0000989	Pruritus
OMIM:604308	FBN1	2200	HP:0001724	Aortic dilatation
OMIM:604308	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:604308	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:604308	FBN1	2200	HP:0001519	Disproportionate tall stature
OMIM:604308	FBN1	2200	HP:0000766	Abnormality of the sternum
OMIM:604308	FBN1	2200	HP:0001065	Striae distensae
ORPHA:99742	SLC25A19	60386	HP:0000340	Sloping forehead
ORPHA:99742	SLC25A19	60386	HP:0002119	Ventriculomegaly
ORPHA:99742	SLC25A19	60386	HP:0011344	Severe global developmental delay
ORPHA:99742	SLC25A19	60386	HP:0000252	Microcephaly
ORPHA:99742	SLC25A19	60386	HP:0002414	Spina bifida
ORPHA:99742	SLC25A19	60386	HP:0000648	Optic atrophy
ORPHA:99742	SLC25A19	60386	HP:0001339	Lissencephaly
ORPHA:99742	SLC25A19	60386	HP:0001522	Death in infancy
ORPHA:99742	SLC25A19	60386	HP:0000347	Micrognathia
ORPHA:99742	SLC25A19	60386	HP:0001252	Muscular hypotonia
ORPHA:99742	SLC25A19	60386	HP:0005968	Temperature instability
ORPHA:99742	SLC25A19	60386	HP:0001274	Agenesis of corpus callosum
ORPHA:99742	SLC25A19	60386	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:99742	SLC25A19	60386	HP:0011968	Feeding difficulties
ORPHA:99742	SLC25A19	60386	HP:0000939	Osteoporosis
ORPHA:99742	SLC25A19	60386	HP:0001992	Organic aciduria
ORPHA:99742	SLC25A19	60386	HP:0002509	Limb hypertonia
ORPHA:99742	SLC25A19	60386	HP:0000737	Irritability
ORPHA:99742	SLC25A19	60386	HP:0001942	Metabolic acidosis
OMIM:616022	JAGN1	84522	HP:0000403	Recurrent otitis media
OMIM:616022	JAGN1	84522	HP:0001875	Neutropenia
OMIM:616022	JAGN1	84522	HP:0002205	Recurrent respiratory infections
OMIM:616022	JAGN1	84522	HP:0002718	Recurrent bacterial infections
OMIM:616022	JAGN1	84522	HP:0000007	Autosomal recessive inheritance
OMIM:300009	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:300009	CLCN5	1184	HP:0002979	Bowing of the legs
OMIM:300009	CLCN5	1184	HP:0003109	Hyperphosphaturia
OMIM:300009	CLCN5	1184	HP:0003126	Low-molecular-weight proteinuria
OMIM:300009	CLCN5	1184	HP:0002753	Thin bony cortex
OMIM:300009	CLCN5	1184	HP:0002907	Microscopic hematuria
OMIM:300009	CLCN5	1184	HP:0000117	Renal phosphate wasting
OMIM:300009	CLCN5	1184	HP:0002980	Femoral bowing
OMIM:300009	CLCN5	1184	HP:0000114	Proximal tubulopathy
OMIM:300009	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:300009	CLCN5	1184	HP:0002752	Sparse bone trabeculae
OMIM:300009	CLCN5	1184	HP:0002749	Osteomalacia
OMIM:300009	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:300009	CLCN5	1184	HP:0003152	Increased serum 1,25-dihydroxyvitamin D3
OMIM:300009	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:300009	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:300009	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:300009	CLCN5	1184	HP:0003076	Glycosuria
OMIM:300009	CLCN5	1184	HP:0003355	Aminoaciduria
OMIM:300009	CLCN5	1184	HP:0004322	Short stature
OMIM:300009	CLCN5	1184	HP:0002663	Delayed epiphyseal ossification
OMIM:300009	CLCN5	1184	HP:0010502	Fibular bowing
OMIM:300009	CLCN5	1184	HP:0002748	Rickets
OMIM:300009	CLCN5	1184	HP:0002757	Recurrent fractures
OMIM:300009	CLCN5	1184	HP:0002982	Tibial bowing
OMIM:300009	CLCN5	1184	HP:0003020	Enlargement of the wrists
OMIM:300009	CLCN5	1184	HP:0003013	Bulging epiphyses
OMIM:300009	CLCN5	1184	HP:0003029	Enlargement of the ankles
OMIM:300009	CLCN5	1184	HP:0003025	Metaphyseal irregularity
OMIM:300009	CLCN5	1184	HP:0002653	Bone pain
OMIM:300009	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:231090	NLRP7	199713	HP:0000119	Abnormality of the genitourinary system
OMIM:231090	NLRP7	199713	HP:0000007	Autosomal recessive inheritance
OMIM:192350	HOXD13	3239	HP:0001602	Laryngeal stenosis
OMIM:192350	HOXD13	3239	HP:0002085	Occipital encephalocele
OMIM:192350	HOXD13	3239	HP:0001195	Single umbilical artery
OMIM:192350	HOXD13	3239	HP:0003974	Absent radius
OMIM:192350	HOXD13	3239	HP:0000110	Renal dysplasia
OMIM:192350	HOXD13	3239	HP:0001636	Tetralogy of Fallot
OMIM:192350	HOXD13	3239	HP:0010479	Patent urachus
OMIM:192350	HOXD13	3239	HP:0008897	Postnatal growth retardation
OMIM:192350	HOXD13	3239	HP:0000076	Vesicoureteral reflux
OMIM:192350	HOXD13	3239	HP:0000074	Ureteropelvic junction obstruction
OMIM:192350	HOXD13	3239	HP:0009778	Short thumb
OMIM:192350	HOXD13	3239	HP:0001629	Ventricular septal defect
OMIM:192350	HOXD13	3239	HP:0002650	Scoliosis
OMIM:192350	HOXD13	3239	HP:0001508	Failure to thrive
OMIM:192350	HOXD13	3239	HP:0000453	Choanal atresia
OMIM:192350	HOXD13	3239	HP:0002414	Spina bifida
OMIM:192350	HOXD13	3239	HP:0000772	Abnormality of the ribs
OMIM:192350	HOXD13	3239	HP:0002974	Radioulnar synostosis
OMIM:192350	HOXD13	3239	HP:0001159	Syndactyly
OMIM:192350	HOXD13	3239	HP:0002575	Tracheoesophageal fistula
OMIM:192350	HOXD13	3239	HP:0002984	Hypoplasia of the radius
OMIM:192350	HOXD13	3239	HP:0001669	Transposition of the great arteries
OMIM:192350	HOXD13	3239	HP:0001511	Intrauterine growth retardation
OMIM:192350	HOXD13	3239	HP:0001643	Patent ductus arteriosus
OMIM:192350	HOXD13	3239	HP:0003745	Sporadic
OMIM:192350	HOXD13	3239	HP:0000086	Ectopic kidney
OMIM:192350	HOXD13	3239	HP:0000766	Abnormality of the sternum
OMIM:192350	HOXD13	3239	HP:0002144	Tethered cord
OMIM:192350	HOXD13	3239	HP:0000104	Renal agenesis
OMIM:192350	HOXD13	3239	HP:0001199	Triphalangeal thumb
OMIM:192350	HOXD13	3239	HP:0000047	Hypospadias
OMIM:192350	HOXD13	3239	HP:0002032	Esophageal atresia
OMIM:192350	HOXD13	3239	HP:0002023	Anal atresia
OMIM:192350	HOXD13	3239	HP:0003468	Abnormal vertebral morphology
OMIM:192350	HOXD13	3239	HP:0100258	Preaxial polydactyly
OMIM:192350	HOXD13	3239	HP:0000126	Hydronephrosis
OMIM:192350	HOXD13	3239	HP:0001739	Abnormality of the nasopharynx
OMIM:192350	HOXD13	3239	HP:0000239	Large fontanelles
OMIM:613471	LBR	3930	HP:0002904	Hyperbilirubinemia
OMIM:613471	LBR	3930	HP:0003761	Calcinosis
OMIM:613471	LBR	3930	HP:0011838	Sclerodactyly
OMIM:613471	LBR	3930	HP:0030880	Raynaud phenomenon
OMIM:613471	LBR	3930	HP:0000006	Autosomal dominant inheritance
OMIM:613471	LBR	3930	HP:0002910	Elevated hepatic transaminases
OMIM:613471	LBR	3930	HP:0000214	Lip telangiectasia
OMIM:613471	LBR	3930	HP:0002239	Gastrointestinal hemorrhage
OMIM:613471	LBR	3930	HP:0002240	Hepatomegaly
OMIM:613471	LBR	3930	HP:0003155	Elevated alkaline phosphatase
OMIM:613471	LBR	3930	HP:0025520	Calcinosis cutis
OMIM:613471	LBR	3930	HP:0100324	Scleroderma
OMIM:613471	LBR	3930	HP:0000989	Pruritus
OMIM:613471	LBR	3930	HP:0002613	Biliary cirrhosis
OMIM:613471	LBR	3930	HP:0001744	Splenomegaly
OMIM:613471	LBR	3930	HP:0002570	Steatorrhea
OMIM:613471	LBR	3930	HP:0100869	Palmar telangiectasia
OMIM:613471	LBR	3930	HP:0000952	Jaundice
OMIM:613119	KCNE3	10008	HP:0012251	ST segment elevation
OMIM:613119	KCNE3	10008	HP:0001663	Ventricular fibrillation
OMIM:613119	KCNE3	10008	HP:0001695	Cardiac arrest
OMIM:613119	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:168400	TRPV4	59341	HP:0002650	Scoliosis
OMIM:168400	TRPV4	59341	HP:0001371	Flexion contracture
OMIM:168400	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:168400	TRPV4	59341	HP:0002808	Kyphosis
OMIM:168400	TRPV4	59341	HP:0000470	Short neck
OMIM:168400	TRPV4	59341	HP:0003510	Severe short stature
OMIM:168400	TRPV4	59341	HP:0002857	Genu valgum
OMIM:600987	MEIS2	4212	HP:0001631	Atrial septal defect
OMIM:600987	MEIS2	4212	HP:0045075	Sparse eyebrow
OMIM:600987	MEIS2	4212	HP:0001263	Global developmental delay
OMIM:600987	MEIS2	4212	HP:0000006	Autosomal dominant inheritance
OMIM:600987	MEIS2	4212	HP:0001629	Ventricular septal defect
OMIM:600987	MEIS2	4212	HP:0002020	Gastroesophageal reflux
OMIM:600987	MEIS2	4212	HP:0000204	Cleft upper lip
OMIM:600987	MEIS2	4212	HP:0011304	Broad thumb
OMIM:600987	MEIS2	4212	HP:0000582	Upslanted palpebral fissure
OMIM:600987	MEIS2	4212	HP:0000490	Deeply set eye
OMIM:600987	MEIS2	4212	HP:0001249	Intellectual disability
OMIM:600987	MEIS2	4212	HP:0002553	Highly arched eyebrow
OMIM:600987	MEIS2	4212	HP:0000341	Narrow forehead
OMIM:600987	MEIS2	4212	HP:0001852	Sandal gap
OMIM:600987	MEIS2	4212	HP:0004322	Short stature
OMIM:600987	MEIS2	4212	HP:0009536	Short 2nd finger
OMIM:600987	MEIS2	4212	HP:0010055	Broad hallux
OMIM:600987	MEIS2	4212	HP:0010804	Tented upper lip vermilion
OMIM:600987	MEIS2	4212	HP:0004691	2-3 toe syndactyly
OMIM:600987	MEIS2	4212	HP:0000729	Autistic behavior
OMIM:600987	MEIS2	4212	HP:0002003	Large forehead
OMIM:600987	MEIS2	4212	HP:0001680	Coarctation of aorta
OMIM:600987	MEIS2	4212	HP:0000175	Cleft palate
OMIM:600987	MEIS2	4212	HP:0009237	Short 5th finger
OMIM:600987	MEIS2	4212	HP:0009890	High anterior hairline
OMIM:600987	MEIS2	4212	HP:0000252	Microcephaly
OMIM:156200	MBD5	55777	HP:0000378	Cupped ear
OMIM:156200	MBD5	55777	HP:0000540	Hypermetropia
OMIM:156200	MBD5	55777	HP:0000448	Prominent nose
OMIM:156200	MBD5	55777	HP:0200055	Small hand
OMIM:156200	MBD5	55777	HP:0000483	Astigmatism
OMIM:156200	MBD5	55777	HP:0100716	Self-injurious behavior
OMIM:156200	MBD5	55777	HP:0001852	Sandal gap
OMIM:156200	MBD5	55777	HP:0000219	Thin upper lip vermilion
OMIM:156200	MBD5	55777	HP:0000718	Aggressive behavior
OMIM:156200	MBD5	55777	HP:0004322	Short stature
OMIM:156200	MBD5	55777	HP:0000337	Broad forehead
OMIM:156200	MBD5	55777	HP:0000411	Protruding ear
OMIM:156200	MBD5	55777	HP:0002463	Language impairment
OMIM:156200	MBD5	55777	HP:0000178	Abnormality of lower lip
OMIM:156200	MBD5	55777	HP:0000545	Myopia
OMIM:156200	MBD5	55777	HP:0000736	Short attention span
OMIM:156200	MBD5	55777	HP:0000414	Bulbous nose
OMIM:156200	MBD5	55777	HP:0000505	Visual impairment
OMIM:156200	MBD5	55777	HP:0001251	Ataxia
OMIM:156200	MBD5	55777	HP:0001249	Intellectual disability
OMIM:156200	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:156200	MBD5	55777	HP:0002553	Highly arched eyebrow
OMIM:156200	MBD5	55777	HP:0000574	Thick eyebrow
OMIM:156200	MBD5	55777	HP:0002373	Febrile seizures
OMIM:156200	MBD5	55777	HP:0000154	Wide mouth
OMIM:156200	MBD5	55777	HP:0000252	Microcephaly
OMIM:156200	MBD5	55777	HP:0001773	Short foot
OMIM:156200	MBD5	55777	HP:0002714	Downturned corners of mouth
OMIM:156200	MBD5	55777	HP:0000278	Retrognathia
OMIM:156200	MBD5	55777	HP:0000687	Widely spaced teeth
OMIM:156200	MBD5	55777	HP:0008551	Microtia
OMIM:156200	MBD5	55777	HP:0008872	Feeding difficulties in infancy
OMIM:156200	MBD5	55777	HP:0003196	Short nose
OMIM:156200	MBD5	55777	HP:0000369	Low-set ears
OMIM:156200	MBD5	55777	HP:0000347	Micrognathia
OMIM:156200	MBD5	55777	HP:0001270	Motor delay
OMIM:156200	MBD5	55777	HP:0002007	Frontal bossing
OMIM:156200	MBD5	55777	HP:0008897	Postnatal growth retardation
OMIM:156200	MBD5	55777	HP:0000331	Short chin
OMIM:156200	MBD5	55777	HP:0000194	Open mouth
OMIM:156200	MBD5	55777	HP:0000565	Esotropia
OMIM:156200	MBD5	55777	HP:0002591	Polyphagia
OMIM:240900	AKT2	208	HP:0000771	Gynecomastia
OMIM:240900	AKT2	208	HP:0001520	Large for gestational age
OMIM:240900	AKT2	208	HP:0001956	Truncal obesity
OMIM:240900	AKT2	208	HP:0001998	Neonatal hypoglycemia
OMIM:240900	AKT2	208	HP:0000006	Autosomal dominant inheritance
OMIM:240900	AKT2	208	HP:0001528	Hemihypertrophy
OMIM:240900	AKT2	208	HP:0000007	Autosomal recessive inheritance
OMIM:240900	AKT2	208	HP:0001250	Seizures
OMIM:616287	ADCY6	112	HP:0001349	Facial diplegia
OMIM:616287	ADCY6	112	HP:0200136	Oral-pharyngeal dysphagia
OMIM:616287	ADCY6	112	HP:0001284	Areflexia
OMIM:616287	ADCY6	112	HP:0001290	Generalized hypotonia
OMIM:616287	ADCY6	112	HP:0000007	Autosomal recessive inheritance
OMIM:616287	ADCY6	112	HP:0002804	Arthrogryposis multiplex congenita
OMIM:222448	LRP2	4036	HP:0000556	Retinal dystrophy
OMIM:222448	LRP2	4036	HP:0005280	Depressed nasal bridge
OMIM:222448	LRP2	4036	HP:0100876	Infra-orbital crease
OMIM:222448	LRP2	4036	HP:0000529	Progressive visual loss
OMIM:222448	LRP2	4036	HP:0000007	Autosomal recessive inheritance
OMIM:222448	LRP2	4036	HP:0011800	Midface retrusion
OMIM:222448	LRP2	4036	HP:0000541	Retinal detachment
OMIM:222448	LRP2	4036	HP:0000272	Malar flattening
OMIM:222448	LRP2	4036	HP:0000256	Macrocephaly
OMIM:222448	LRP2	4036	HP:0000455	Broad nasal tip
OMIM:222448	LRP2	4036	HP:0000520	Proptosis
OMIM:222448	LRP2	4036	HP:0000369	Low-set ears
OMIM:222448	LRP2	4036	HP:0001338	Partial agenesis of the corpus callosum
OMIM:540000	COX1	4512	HP:0000819	Diabetes mellitus
OMIM:540000	COX1	4512	HP:0012377	Hemianopia
OMIM:540000	COX1	4512	HP:0000726	Dementia
OMIM:540000	COX1	4512	HP:0001298	Encephalopathy
OMIM:540000	COX1	4512	HP:0003200	Ragged-red muscle fibers
OMIM:540000	COX1	4512	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	COX1	4512	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX1	4512	HP:0000822	Hypertension
OMIM:540000	COX1	4512	HP:0001269	Hemiparesis
OMIM:540000	COX1	4512	HP:0002076	Migraine
OMIM:540000	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX1	4512	HP:0003737	Mitochondrial myopathy
OMIM:540000	COX1	4512	HP:0002572	Episodic vomiting
OMIM:540000	COX1	4512	HP:0100704	Cortical visual impairment
OMIM:540000	COX1	4512	HP:0001507	Growth abnormality
OMIM:540000	COX1	4512	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX1	4512	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX1	4512	HP:0001635	Congestive heart failure
OMIM:540000	COX1	4512	HP:0003198	Myopathy
OMIM:540000	COX1	4512	HP:0002401	Stroke-like episode
OMIM:540000	COX1	4512	HP:0000602	Ophthalmoplegia
OMIM:540000	COX1	4512	HP:0003128	Lactic acidosis
OMIM:540000	COX1	4512	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX1	4512	HP:0003828	Variable expressivity
OMIM:540000	COX1	4512	HP:0000519	Congenital cataract
OMIM:540000	COX2	4513	HP:0000819	Diabetes mellitus
OMIM:540000	COX2	4513	HP:0012377	Hemianopia
OMIM:540000	COX2	4513	HP:0000726	Dementia
OMIM:540000	COX2	4513	HP:0001298	Encephalopathy
OMIM:540000	COX2	4513	HP:0003200	Ragged-red muscle fibers
OMIM:540000	COX2	4513	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	COX2	4513	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX2	4513	HP:0000822	Hypertension
OMIM:540000	COX2	4513	HP:0001269	Hemiparesis
OMIM:540000	COX2	4513	HP:0002076	Migraine
OMIM:540000	COX2	4513	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX2	4513	HP:0003737	Mitochondrial myopathy
OMIM:540000	COX2	4513	HP:0002572	Episodic vomiting
OMIM:540000	COX2	4513	HP:0100704	Cortical visual impairment
OMIM:540000	COX2	4513	HP:0001507	Growth abnormality
OMIM:540000	COX2	4513	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX2	4513	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX2	4513	HP:0001635	Congestive heart failure
OMIM:540000	COX2	4513	HP:0003198	Myopathy
OMIM:540000	COX2	4513	HP:0002401	Stroke-like episode
OMIM:540000	COX2	4513	HP:0000602	Ophthalmoplegia
OMIM:540000	COX2	4513	HP:0003128	Lactic acidosis
OMIM:540000	COX2	4513	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX2	4513	HP:0003828	Variable expressivity
OMIM:540000	COX2	4513	HP:0000519	Congenital cataract
OMIM:540000	TRNV	4577	HP:0000819	Diabetes mellitus
OMIM:540000	TRNV	4577	HP:0012377	Hemianopia
OMIM:540000	TRNV	4577	HP:0000726	Dementia
OMIM:540000	TRNV	4577	HP:0001298	Encephalopathy
OMIM:540000	TRNV	4577	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNV	4577	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNV	4577	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNV	4577	HP:0000822	Hypertension
OMIM:540000	TRNV	4577	HP:0001269	Hemiparesis
OMIM:540000	TRNV	4577	HP:0002076	Migraine
OMIM:540000	TRNV	4577	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNV	4577	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNV	4577	HP:0002572	Episodic vomiting
OMIM:540000	TRNV	4577	HP:0100704	Cortical visual impairment
OMIM:540000	TRNV	4577	HP:0001507	Growth abnormality
OMIM:540000	TRNV	4577	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNV	4577	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNV	4577	HP:0001635	Congestive heart failure
OMIM:540000	TRNV	4577	HP:0003198	Myopathy
OMIM:540000	TRNV	4577	HP:0002401	Stroke-like episode
OMIM:540000	TRNV	4577	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNV	4577	HP:0003128	Lactic acidosis
OMIM:540000	TRNV	4577	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNV	4577	HP:0003828	Variable expressivity
OMIM:540000	TRNV	4577	HP:0000519	Congenital cataract
OMIM:540000	COX3	4514	HP:0000819	Diabetes mellitus
OMIM:540000	COX3	4514	HP:0012377	Hemianopia
OMIM:540000	COX3	4514	HP:0000726	Dementia
OMIM:540000	COX3	4514	HP:0001298	Encephalopathy
OMIM:540000	COX3	4514	HP:0003200	Ragged-red muscle fibers
OMIM:540000	COX3	4514	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	COX3	4514	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX3	4514	HP:0000822	Hypertension
OMIM:540000	COX3	4514	HP:0001269	Hemiparesis
OMIM:540000	COX3	4514	HP:0002076	Migraine
OMIM:540000	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX3	4514	HP:0003737	Mitochondrial myopathy
OMIM:540000	COX3	4514	HP:0002572	Episodic vomiting
OMIM:540000	COX3	4514	HP:0100704	Cortical visual impairment
OMIM:540000	COX3	4514	HP:0001507	Growth abnormality
OMIM:540000	COX3	4514	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX3	4514	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX3	4514	HP:0001635	Congestive heart failure
OMIM:540000	COX3	4514	HP:0003198	Myopathy
OMIM:540000	COX3	4514	HP:0002401	Stroke-like episode
OMIM:540000	COX3	4514	HP:0000602	Ophthalmoplegia
OMIM:540000	COX3	4514	HP:0003128	Lactic acidosis
OMIM:540000	COX3	4514	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX3	4514	HP:0003828	Variable expressivity
OMIM:540000	COX3	4514	HP:0000519	Congenital cataract
OMIM:540000	TRNW	4578	HP:0000819	Diabetes mellitus
OMIM:540000	TRNW	4578	HP:0012377	Hemianopia
OMIM:540000	TRNW	4578	HP:0000726	Dementia
OMIM:540000	TRNW	4578	HP:0001298	Encephalopathy
OMIM:540000	TRNW	4578	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNW	4578	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNW	4578	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNW	4578	HP:0000822	Hypertension
OMIM:540000	TRNW	4578	HP:0001269	Hemiparesis
OMIM:540000	TRNW	4578	HP:0002076	Migraine
OMIM:540000	TRNW	4578	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNW	4578	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNW	4578	HP:0002572	Episodic vomiting
OMIM:540000	TRNW	4578	HP:0100704	Cortical visual impairment
OMIM:540000	TRNW	4578	HP:0001507	Growth abnormality
OMIM:540000	TRNW	4578	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNW	4578	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNW	4578	HP:0001635	Congestive heart failure
OMIM:540000	TRNW	4578	HP:0003198	Myopathy
OMIM:540000	TRNW	4578	HP:0002401	Stroke-like episode
OMIM:540000	TRNW	4578	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNW	4578	HP:0003128	Lactic acidosis
OMIM:540000	TRNW	4578	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNW	4578	HP:0003828	Variable expressivity
OMIM:540000	TRNW	4578	HP:0000519	Congenital cataract
OMIM:540000	CYTB	4519	HP:0000819	Diabetes mellitus
OMIM:540000	CYTB	4519	HP:0012377	Hemianopia
OMIM:540000	CYTB	4519	HP:0000726	Dementia
OMIM:540000	CYTB	4519	HP:0001298	Encephalopathy
OMIM:540000	CYTB	4519	HP:0003200	Ragged-red muscle fibers
OMIM:540000	CYTB	4519	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	CYTB	4519	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	CYTB	4519	HP:0000822	Hypertension
OMIM:540000	CYTB	4519	HP:0001269	Hemiparesis
OMIM:540000	CYTB	4519	HP:0002076	Migraine
OMIM:540000	CYTB	4519	HP:0001427	Mitochondrial inheritance
OMIM:540000	CYTB	4519	HP:0003737	Mitochondrial myopathy
OMIM:540000	CYTB	4519	HP:0002572	Episodic vomiting
OMIM:540000	CYTB	4519	HP:0100704	Cortical visual impairment
OMIM:540000	CYTB	4519	HP:0001507	Growth abnormality
OMIM:540000	CYTB	4519	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	CYTB	4519	HP:0001712	Left ventricular hypertrophy
OMIM:540000	CYTB	4519	HP:0001635	Congestive heart failure
OMIM:540000	CYTB	4519	HP:0003198	Myopathy
OMIM:540000	CYTB	4519	HP:0002401	Stroke-like episode
OMIM:540000	CYTB	4519	HP:0000602	Ophthalmoplegia
OMIM:540000	CYTB	4519	HP:0003128	Lactic acidosis
OMIM:540000	CYTB	4519	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	CYTB	4519	HP:0003828	Variable expressivity
OMIM:540000	CYTB	4519	HP:0000519	Congenital cataract
OMIM:540000	TRNF	4558	HP:0000819	Diabetes mellitus
OMIM:540000	TRNF	4558	HP:0012377	Hemianopia
OMIM:540000	TRNF	4558	HP:0000726	Dementia
OMIM:540000	TRNF	4558	HP:0001298	Encephalopathy
OMIM:540000	TRNF	4558	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNF	4558	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNF	4558	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNF	4558	HP:0000822	Hypertension
OMIM:540000	TRNF	4558	HP:0001269	Hemiparesis
OMIM:540000	TRNF	4558	HP:0002076	Migraine
OMIM:540000	TRNF	4558	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNF	4558	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNF	4558	HP:0002572	Episodic vomiting
OMIM:540000	TRNF	4558	HP:0100704	Cortical visual impairment
OMIM:540000	TRNF	4558	HP:0001507	Growth abnormality
OMIM:540000	TRNF	4558	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNF	4558	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNF	4558	HP:0001635	Congestive heart failure
OMIM:540000	TRNF	4558	HP:0003198	Myopathy
OMIM:540000	TRNF	4558	HP:0002401	Stroke-like episode
OMIM:540000	TRNF	4558	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNF	4558	HP:0003128	Lactic acidosis
OMIM:540000	TRNF	4558	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNF	4558	HP:0003828	Variable expressivity
OMIM:540000	TRNF	4558	HP:0000519	Congenital cataract
OMIM:540000	TRNK	4566	HP:0000819	Diabetes mellitus
OMIM:540000	TRNK	4566	HP:0012377	Hemianopia
OMIM:540000	TRNK	4566	HP:0000726	Dementia
OMIM:540000	TRNK	4566	HP:0001298	Encephalopathy
OMIM:540000	TRNK	4566	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNK	4566	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNK	4566	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNK	4566	HP:0000822	Hypertension
OMIM:540000	TRNK	4566	HP:0001269	Hemiparesis
OMIM:540000	TRNK	4566	HP:0002076	Migraine
OMIM:540000	TRNK	4566	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNK	4566	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNK	4566	HP:0002572	Episodic vomiting
OMIM:540000	TRNK	4566	HP:0100704	Cortical visual impairment
OMIM:540000	TRNK	4566	HP:0001507	Growth abnormality
OMIM:540000	TRNK	4566	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNK	4566	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNK	4566	HP:0001635	Congestive heart failure
OMIM:540000	TRNK	4566	HP:0003198	Myopathy
OMIM:540000	TRNK	4566	HP:0002401	Stroke-like episode
OMIM:540000	TRNK	4566	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNK	4566	HP:0003128	Lactic acidosis
OMIM:540000	TRNK	4566	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNK	4566	HP:0003828	Variable expressivity
OMIM:540000	TRNK	4566	HP:0000519	Congenital cataract
OMIM:540000	ND1	4535	HP:0000819	Diabetes mellitus
OMIM:540000	ND1	4535	HP:0012377	Hemianopia
OMIM:540000	ND1	4535	HP:0000726	Dementia
OMIM:540000	ND1	4535	HP:0001298	Encephalopathy
OMIM:540000	ND1	4535	HP:0003200	Ragged-red muscle fibers
OMIM:540000	ND1	4535	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	ND1	4535	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND1	4535	HP:0000822	Hypertension
OMIM:540000	ND1	4535	HP:0001269	Hemiparesis
OMIM:540000	ND1	4535	HP:0002076	Migraine
OMIM:540000	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND1	4535	HP:0003737	Mitochondrial myopathy
OMIM:540000	ND1	4535	HP:0002572	Episodic vomiting
OMIM:540000	ND1	4535	HP:0100704	Cortical visual impairment
OMIM:540000	ND1	4535	HP:0001507	Growth abnormality
OMIM:540000	ND1	4535	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND1	4535	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND1	4535	HP:0001635	Congestive heart failure
OMIM:540000	ND1	4535	HP:0003198	Myopathy
OMIM:540000	ND1	4535	HP:0002401	Stroke-like episode
OMIM:540000	ND1	4535	HP:0000602	Ophthalmoplegia
OMIM:540000	ND1	4535	HP:0003128	Lactic acidosis
OMIM:540000	ND1	4535	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND1	4535	HP:0003828	Variable expressivity
OMIM:540000	ND1	4535	HP:0000519	Congenital cataract
OMIM:540000	TRNL1	4567	HP:0000819	Diabetes mellitus
OMIM:540000	TRNL1	4567	HP:0012377	Hemianopia
OMIM:540000	TRNL1	4567	HP:0000726	Dementia
OMIM:540000	TRNL1	4567	HP:0001298	Encephalopathy
OMIM:540000	TRNL1	4567	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNL1	4567	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNL1	4567	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNL1	4567	HP:0000822	Hypertension
OMIM:540000	TRNL1	4567	HP:0001269	Hemiparesis
OMIM:540000	TRNL1	4567	HP:0002076	Migraine
OMIM:540000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNL1	4567	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNL1	4567	HP:0002572	Episodic vomiting
OMIM:540000	TRNL1	4567	HP:0100704	Cortical visual impairment
OMIM:540000	TRNL1	4567	HP:0001507	Growth abnormality
OMIM:540000	TRNL1	4567	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNL1	4567	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNL1	4567	HP:0001635	Congestive heart failure
OMIM:540000	TRNL1	4567	HP:0003198	Myopathy
OMIM:540000	TRNL1	4567	HP:0002401	Stroke-like episode
OMIM:540000	TRNL1	4567	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNL1	4567	HP:0003128	Lactic acidosis
OMIM:540000	TRNL1	4567	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNL1	4567	HP:0003828	Variable expressivity
OMIM:540000	TRNL1	4567	HP:0000519	Congenital cataract
OMIM:540000	ND5	4540	HP:0000819	Diabetes mellitus
OMIM:540000	ND5	4540	HP:0012377	Hemianopia
OMIM:540000	ND5	4540	HP:0000726	Dementia
OMIM:540000	ND5	4540	HP:0001298	Encephalopathy
OMIM:540000	ND5	4540	HP:0003200	Ragged-red muscle fibers
OMIM:540000	ND5	4540	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	ND5	4540	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND5	4540	HP:0000822	Hypertension
OMIM:540000	ND5	4540	HP:0001269	Hemiparesis
OMIM:540000	ND5	4540	HP:0002076	Migraine
OMIM:540000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND5	4540	HP:0003737	Mitochondrial myopathy
OMIM:540000	ND5	4540	HP:0002572	Episodic vomiting
OMIM:540000	ND5	4540	HP:0100704	Cortical visual impairment
OMIM:540000	ND5	4540	HP:0001507	Growth abnormality
OMIM:540000	ND5	4540	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND5	4540	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND5	4540	HP:0001635	Congestive heart failure
OMIM:540000	ND5	4540	HP:0003198	Myopathy
OMIM:540000	ND5	4540	HP:0002401	Stroke-like episode
OMIM:540000	ND5	4540	HP:0000602	Ophthalmoplegia
OMIM:540000	ND5	4540	HP:0003128	Lactic acidosis
OMIM:540000	ND5	4540	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND5	4540	HP:0003828	Variable expressivity
OMIM:540000	ND5	4540	HP:0000519	Congenital cataract
OMIM:540000	TRNQ	4572	HP:0000819	Diabetes mellitus
OMIM:540000	TRNQ	4572	HP:0012377	Hemianopia
OMIM:540000	TRNQ	4572	HP:0000726	Dementia
OMIM:540000	TRNQ	4572	HP:0001298	Encephalopathy
OMIM:540000	TRNQ	4572	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNQ	4572	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNQ	4572	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNQ	4572	HP:0000822	Hypertension
OMIM:540000	TRNQ	4572	HP:0001269	Hemiparesis
OMIM:540000	TRNQ	4572	HP:0002076	Migraine
OMIM:540000	TRNQ	4572	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNQ	4572	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNQ	4572	HP:0002572	Episodic vomiting
OMIM:540000	TRNQ	4572	HP:0100704	Cortical visual impairment
OMIM:540000	TRNQ	4572	HP:0001507	Growth abnormality
OMIM:540000	TRNQ	4572	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNQ	4572	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNQ	4572	HP:0001635	Congestive heart failure
OMIM:540000	TRNQ	4572	HP:0003198	Myopathy
OMIM:540000	TRNQ	4572	HP:0002401	Stroke-like episode
OMIM:540000	TRNQ	4572	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNQ	4572	HP:0003128	Lactic acidosis
OMIM:540000	TRNQ	4572	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNQ	4572	HP:0003828	Variable expressivity
OMIM:540000	TRNQ	4572	HP:0000519	Congenital cataract
OMIM:540000	ND6	4541	HP:0000819	Diabetes mellitus
OMIM:540000	ND6	4541	HP:0012377	Hemianopia
OMIM:540000	ND6	4541	HP:0000726	Dementia
OMIM:540000	ND6	4541	HP:0001298	Encephalopathy
OMIM:540000	ND6	4541	HP:0003200	Ragged-red muscle fibers
OMIM:540000	ND6	4541	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	ND6	4541	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND6	4541	HP:0000822	Hypertension
OMIM:540000	ND6	4541	HP:0001269	Hemiparesis
OMIM:540000	ND6	4541	HP:0002076	Migraine
OMIM:540000	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND6	4541	HP:0003737	Mitochondrial myopathy
OMIM:540000	ND6	4541	HP:0002572	Episodic vomiting
OMIM:540000	ND6	4541	HP:0100704	Cortical visual impairment
OMIM:540000	ND6	4541	HP:0001507	Growth abnormality
OMIM:540000	ND6	4541	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND6	4541	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND6	4541	HP:0001635	Congestive heart failure
OMIM:540000	ND6	4541	HP:0003198	Myopathy
OMIM:540000	ND6	4541	HP:0002401	Stroke-like episode
OMIM:540000	ND6	4541	HP:0000602	Ophthalmoplegia
OMIM:540000	ND6	4541	HP:0003128	Lactic acidosis
OMIM:540000	ND6	4541	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND6	4541	HP:0003828	Variable expressivity
OMIM:540000	ND6	4541	HP:0000519	Congenital cataract
OMIM:540000	TRNS1	4574	HP:0000819	Diabetes mellitus
OMIM:540000	TRNS1	4574	HP:0012377	Hemianopia
OMIM:540000	TRNS1	4574	HP:0000726	Dementia
OMIM:540000	TRNS1	4574	HP:0001298	Encephalopathy
OMIM:540000	TRNS1	4574	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNS1	4574	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNS1	4574	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNS1	4574	HP:0000822	Hypertension
OMIM:540000	TRNS1	4574	HP:0001269	Hemiparesis
OMIM:540000	TRNS1	4574	HP:0002076	Migraine
OMIM:540000	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNS1	4574	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNS1	4574	HP:0002572	Episodic vomiting
OMIM:540000	TRNS1	4574	HP:0100704	Cortical visual impairment
OMIM:540000	TRNS1	4574	HP:0001507	Growth abnormality
OMIM:540000	TRNS1	4574	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNS1	4574	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNS1	4574	HP:0001635	Congestive heart failure
OMIM:540000	TRNS1	4574	HP:0003198	Myopathy
OMIM:540000	TRNS1	4574	HP:0002401	Stroke-like episode
OMIM:540000	TRNS1	4574	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNS1	4574	HP:0003128	Lactic acidosis
OMIM:540000	TRNS1	4574	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNS1	4574	HP:0003828	Variable expressivity
OMIM:540000	TRNS1	4574	HP:0000519	Congenital cataract
OMIM:540000	TRNC	4511	HP:0000819	Diabetes mellitus
OMIM:540000	TRNC	4511	HP:0012377	Hemianopia
OMIM:540000	TRNC	4511	HP:0000726	Dementia
OMIM:540000	TRNC	4511	HP:0001298	Encephalopathy
OMIM:540000	TRNC	4511	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNC	4511	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNC	4511	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNC	4511	HP:0000822	Hypertension
OMIM:540000	TRNC	4511	HP:0001269	Hemiparesis
OMIM:540000	TRNC	4511	HP:0002076	Migraine
OMIM:540000	TRNC	4511	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNC	4511	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNC	4511	HP:0002572	Episodic vomiting
OMIM:540000	TRNC	4511	HP:0100704	Cortical visual impairment
OMIM:540000	TRNC	4511	HP:0001507	Growth abnormality
OMIM:540000	TRNC	4511	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNC	4511	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNC	4511	HP:0001635	Congestive heart failure
OMIM:540000	TRNC	4511	HP:0003198	Myopathy
OMIM:540000	TRNC	4511	HP:0002401	Stroke-like episode
OMIM:540000	TRNC	4511	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNC	4511	HP:0003128	Lactic acidosis
OMIM:540000	TRNC	4511	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNC	4511	HP:0003828	Variable expressivity
OMIM:540000	TRNC	4511	HP:0000519	Congenital cataract
OMIM:540000	TRNS2	4575	HP:0000819	Diabetes mellitus
OMIM:540000	TRNS2	4575	HP:0012377	Hemianopia
OMIM:540000	TRNS2	4575	HP:0000726	Dementia
OMIM:540000	TRNS2	4575	HP:0001298	Encephalopathy
OMIM:540000	TRNS2	4575	HP:0003200	Ragged-red muscle fibers
OMIM:540000	TRNS2	4575	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:540000	TRNS2	4575	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNS2	4575	HP:0000822	Hypertension
OMIM:540000	TRNS2	4575	HP:0001269	Hemiparesis
OMIM:540000	TRNS2	4575	HP:0002076	Migraine
OMIM:540000	TRNS2	4575	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNS2	4575	HP:0003737	Mitochondrial myopathy
OMIM:540000	TRNS2	4575	HP:0002572	Episodic vomiting
OMIM:540000	TRNS2	4575	HP:0100704	Cortical visual impairment
OMIM:540000	TRNS2	4575	HP:0001507	Growth abnormality
OMIM:540000	TRNS2	4575	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNS2	4575	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNS2	4575	HP:0001635	Congestive heart failure
OMIM:540000	TRNS2	4575	HP:0003198	Myopathy
OMIM:540000	TRNS2	4575	HP:0002401	Stroke-like episode
OMIM:540000	TRNS2	4575	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNS2	4575	HP:0003128	Lactic acidosis
OMIM:540000	TRNS2	4575	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNS2	4575	HP:0003828	Variable expressivity
OMIM:540000	TRNS2	4575	HP:0000519	Congenital cataract
OMIM:136680	WT1	7490	HP:0003774	Stage 5 chronic kidney disease
OMIM:136680	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:136680	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
OMIM:136680	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:136680	WT1	7490	HP:0000037	Male pseudohermaphroditism
OMIM:136680	WT1	7490	HP:0000149	Ovarian gonadoblastoma
OMIM:136680	WT1	7490	HP:0000786	Primary amenorrhea
OMIM:136680	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:136680	WT1	7490	HP:0001428	Somatic mutation
OMIM:617153	GABRB1	2560	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617153	GABRB1	2560	HP:0002521	Hypsarrhythmia
OMIM:617153	GABRB1	2560	HP:0001263	Global developmental delay
OMIM:617153	GABRB1	2560	HP:0000006	Autosomal dominant inheritance
OMIM:617153	GABRB1	2560	HP:0001251	Ataxia
OMIM:617153	GABRB1	2560	HP:0200134	Epileptic encephalopathy
OMIM:617153	GABRB1	2560	HP:0002376	Developmental regression
OMIM:617153	GABRB1	2560	HP:0001250	Seizures
OMIM:617153	GABRB1	2560	HP:0001290	Generalized hypotonia
OMIM:617153	GABRB1	2560	HP:0003593	Infantile onset
OMIM:617153	GABRB1	2560	HP:0100704	Cortical visual impairment
OMIM:616638	MTOR	2475	HP:0002720	IgA deficiency
OMIM:616638	MTOR	2475	HP:0000154	Wide mouth
OMIM:616638	MTOR	2475	HP:0000343	Long philtrum
OMIM:616638	MTOR	2475	HP:0010241	Short proximal phalanx of finger
OMIM:616638	MTOR	2475	HP:0000260	Wide anterior fontanel
OMIM:616638	MTOR	2475	HP:0001869	Deep plantar creases
OMIM:616638	MTOR	2475	HP:0000494	Downslanted palpebral fissures
OMIM:616638	MTOR	2475	HP:0005280	Depressed nasal bridge
OMIM:616638	MTOR	2475	HP:0001873	Thrombocytopenia
OMIM:616638	MTOR	2475	HP:0001290	Generalized hypotonia
OMIM:616638	MTOR	2475	HP:0001943	Hypoglycemia
OMIM:616638	MTOR	2475	HP:0000219	Thin upper lip vermilion
OMIM:616638	MTOR	2475	HP:0012650	Perisylvian polymicrogyria
OMIM:616638	MTOR	2475	HP:0006191	Deep palmar crease
OMIM:616638	MTOR	2475	HP:0003196	Short nose
OMIM:616638	MTOR	2475	HP:0011800	Midface retrusion
OMIM:616638	MTOR	2475	HP:0000348	High forehead
OMIM:616638	MTOR	2475	HP:0001249	Intellectual disability
OMIM:616638	MTOR	2475	HP:0000006	Autosomal dominant inheritance
OMIM:616638	MTOR	2475	HP:0000331	Short chin
OMIM:616638	MTOR	2475	HP:0002007	Frontal bossing
OMIM:616638	MTOR	2475	HP:0008905	Rhizomelia
OMIM:616638	MTOR	2475	HP:0002212	Curly hair
OMIM:616638	MTOR	2475	HP:0000256	Macrocephaly
OMIM:616638	MTOR	2475	HP:0001250	Seizures
OMIM:616638	MTOR	2475	HP:0000319	Smooth philtrum
OMIM:616638	MTOR	2475	HP:0000316	Hypertelorism
OMIM:616638	MTOR	2475	HP:0000957	Cafe-au-lait spot
ORPHA:289176	DMP1	1758	HP:0003020	Enlargement of the wrists
ORPHA:289176	DMP1	1758	HP:0010639	Elevated alkaline phosphatase of bone origin
ORPHA:289176	DMP1	1758	HP:0002652	Skeletal dysplasia
ORPHA:289176	DMP1	1758	HP:0012052	Low serum calcitriol
ORPHA:289176	DMP1	1758	HP:0002970	Genu varum
ORPHA:289176	DMP1	1758	HP:0008732	Renal hypophosphatemia
ORPHA:289176	DMP1	1758	HP:0011036	Abnormality of renal excretion
ORPHA:289176	DMP1	1758	HP:0030757	Tooth abscess
ORPHA:289176	DMP1	1758	HP:0100559	Lower limb asymmetry
ORPHA:289176	DMP1	1758	HP:0004322	Short stature
ORPHA:289176	DMP1	1758	HP:0100781	Abnormality of the sacroiliac joint
ORPHA:289176	DMP1	1758	HP:0000684	Delayed eruption of teeth
ORPHA:289176	DMP1	1758	HP:0002982	Tibial bowing
ORPHA:289176	DMP1	1758	HP:0004912	Hypophosphatemic rickets
ORPHA:289176	DMP1	1758	HP:0002024	Malabsorption
ORPHA:289176	DMP1	1758	HP:0005096	Distal femoral bowing
ORPHA:289176	DMP1	1758	HP:0004576	Sclerotic vertebral endplates
ORPHA:289176	DMP1	1758	HP:0003109	Hyperphosphaturia
ORPHA:289176	DMP1	1758	HP:0000117	Renal phosphate wasting
ORPHA:289176	DMP1	1758	HP:0011001	Increased bone mineral density
ORPHA:289176	DMP1	1758	HP:0001363	Craniosynostosis
ORPHA:289176	DMP1	1758	HP:0003416	Spinal canal stenosis
ORPHA:289176	DMP1	1758	HP:0100686	Enthesitis
ORPHA:289176	DMP1	1758	HP:0002812	Coxa vara
ORPHA:289176	DMP1	1758	HP:0000407	Sensorineural hearing impairment
ORPHA:289176	DMP1	1758	HP:0006463	Rickets of the lower limbs
ORPHA:289176	DMP1	1758	HP:0100671	Abnormal trabecular bone morphology
ORPHA:289176	DMP1	1758	HP:0002653	Bone pain
ORPHA:289176	DMP1	1758	HP:0002749	Osteomalacia
ORPHA:289176	DMP1	1758	HP:0005764	Polyarticular arthritis
ORPHA:289176	DMP1	1758	HP:0100036	Pseudo-fractures
ORPHA:289176	ENPP1	5167	HP:0003020	Enlargement of the wrists
ORPHA:289176	ENPP1	5167	HP:0010639	Elevated alkaline phosphatase of bone origin
ORPHA:289176	ENPP1	5167	HP:0002652	Skeletal dysplasia
ORPHA:289176	ENPP1	5167	HP:0012052	Low serum calcitriol
ORPHA:289176	ENPP1	5167	HP:0002970	Genu varum
ORPHA:289176	ENPP1	5167	HP:0008732	Renal hypophosphatemia
ORPHA:289176	ENPP1	5167	HP:0011036	Abnormality of renal excretion
ORPHA:289176	ENPP1	5167	HP:0030757	Tooth abscess
ORPHA:289176	ENPP1	5167	HP:0100559	Lower limb asymmetry
ORPHA:289176	ENPP1	5167	HP:0004322	Short stature
ORPHA:289176	ENPP1	5167	HP:0100781	Abnormality of the sacroiliac joint
ORPHA:289176	ENPP1	5167	HP:0000684	Delayed eruption of teeth
ORPHA:289176	ENPP1	5167	HP:0002982	Tibial bowing
ORPHA:289176	ENPP1	5167	HP:0004912	Hypophosphatemic rickets
ORPHA:289176	ENPP1	5167	HP:0002024	Malabsorption
ORPHA:289176	ENPP1	5167	HP:0005096	Distal femoral bowing
ORPHA:289176	ENPP1	5167	HP:0004576	Sclerotic vertebral endplates
ORPHA:289176	ENPP1	5167	HP:0003109	Hyperphosphaturia
ORPHA:289176	ENPP1	5167	HP:0000117	Renal phosphate wasting
ORPHA:289176	ENPP1	5167	HP:0011001	Increased bone mineral density
ORPHA:289176	ENPP1	5167	HP:0001363	Craniosynostosis
ORPHA:289176	ENPP1	5167	HP:0003416	Spinal canal stenosis
ORPHA:289176	ENPP1	5167	HP:0100686	Enthesitis
ORPHA:289176	ENPP1	5167	HP:0002812	Coxa vara
ORPHA:289176	ENPP1	5167	HP:0000407	Sensorineural hearing impairment
ORPHA:289176	ENPP1	5167	HP:0006463	Rickets of the lower limbs
ORPHA:289176	ENPP1	5167	HP:0100671	Abnormal trabecular bone morphology
ORPHA:289176	ENPP1	5167	HP:0002653	Bone pain
ORPHA:289176	ENPP1	5167	HP:0002749	Osteomalacia
ORPHA:289176	ENPP1	5167	HP:0005764	Polyarticular arthritis
ORPHA:289176	ENPP1	5167	HP:0100036	Pseudo-fractures
OMIM:608233	AP3B1	8546	HP:0000431	Wide nasal bridge
OMIM:608233	AP3B1	8546	HP:0000670	Carious teeth
OMIM:608233	AP3B1	8546	HP:0001385	Hip dysplasia
OMIM:608233	AP3B1	8546	HP:0000369	Low-set ears
OMIM:608233	AP3B1	8546	HP:0001875	Neutropenia
OMIM:608233	AP3B1	8546	HP:0000486	Strabismus
OMIM:608233	AP3B1	8546	HP:0000219	Thin upper lip vermilion
OMIM:608233	AP3B1	8546	HP:0000280	Coarse facial features
OMIM:608233	AP3B1	8546	HP:0003577	Congenital onset
OMIM:608233	AP3B1	8546	HP:0007384	Aberrant melanosome maturation
OMIM:608233	AP3B1	8546	HP:0002240	Hepatomegaly
OMIM:608233	AP3B1	8546	HP:0001873	Thrombocytopenia
OMIM:608233	AP3B1	8546	HP:0002718	Recurrent bacterial infections
OMIM:608233	AP3B1	8546	HP:0008807	Acetabular dysplasia
OMIM:608233	AP3B1	8546	HP:0002286	Fair hair
OMIM:608233	AP3B1	8546	HP:0000639	Nystagmus
OMIM:608233	AP3B1	8546	HP:0000319	Smooth philtrum
OMIM:608233	AP3B1	8546	HP:0001744	Splenomegaly
OMIM:608233	AP3B1	8546	HP:0000007	Autosomal recessive inheritance
OMIM:608233	AP3B1	8546	HP:0001107	Ocular albinism
OMIM:608233	AP3B1	8546	HP:0000358	Posteriorly rotated ears
OMIM:608233	AP3B1	8546	HP:0001270	Motor delay
OMIM:608233	AP3B1	8546	HP:0000582	Upslanted palpebral fissure
OMIM:608233	AP3B1	8546	HP:0000252	Microcephaly
OMIM:608233	AP3B1	8546	HP:0000704	Periodontitis
OMIM:608233	AP3B1	8546	HP:0000343	Long philtrum
OMIM:608233	AP3B1	8546	HP:0001022	Albinism
OMIM:608233	AP3B1	8546	HP:0000613	Photophobia
OMIM:608233	AP3B1	8546	HP:0007663	Reduced visual acuity
OMIM:608233	AP3B1	8546	HP:0000505	Visual impairment
OMIM:608233	AP3B1	8546	HP:0001256	Intellectual disability, mild
OMIM:608233	AP3B1	8546	HP:0002206	Pulmonary fibrosis
OMIM:617384	DNAJC12	56521	HP:0000639	Nystagmus
OMIM:617384	DNAJC12	56521	HP:0002136	Broad-based gait
OMIM:617384	DNAJC12	56521	HP:0001256	Intellectual disability, mild
OMIM:617384	DNAJC12	56521	HP:0001263	Global developmental delay
OMIM:617384	DNAJC12	56521	HP:0001332	Dystonia
OMIM:617384	DNAJC12	56521	HP:0000750	Delayed speech and language development
OMIM:617384	DNAJC12	56521	HP:0000007	Autosomal recessive inheritance
OMIM:617384	DNAJC12	56521	HP:0001290	Generalized hypotonia
OMIM:617384	DNAJC12	56521	HP:0001300	Parkinsonism
ORPHA:49382	RPGR	6103	HP:0000613	Photophobia
ORPHA:49382	RPGR	6103	HP:0000577	Exotropia
ORPHA:49382	RPGR	6103	HP:0000505	Visual impairment
ORPHA:49382	RPGR	6103	HP:0007641	Dyschromatopsia
ORPHA:49382	RPGR	6103	HP:0000512	Abnormal electroretinogram
ORPHA:49382	RPGR	6103	HP:0012043	Pendular nystagmus
ORPHA:49382	RPGR	6103	HP:0000540	Hypermetropia
ORPHA:49382	CNGB3	54714	HP:0000613	Photophobia
ORPHA:49382	CNGB3	54714	HP:0000577	Exotropia
ORPHA:49382	CNGB3	54714	HP:0000505	Visual impairment
ORPHA:49382	CNGB3	54714	HP:0007641	Dyschromatopsia
ORPHA:49382	CNGB3	54714	HP:0000512	Abnormal electroretinogram
ORPHA:49382	CNGB3	54714	HP:0012043	Pendular nystagmus
ORPHA:49382	CNGB3	54714	HP:0000540	Hypermetropia
ORPHA:49382	PDE6C	5146	HP:0000613	Photophobia
ORPHA:49382	PDE6C	5146	HP:0000577	Exotropia
ORPHA:49382	PDE6C	5146	HP:0000505	Visual impairment
ORPHA:49382	PDE6C	5146	HP:0007641	Dyschromatopsia
ORPHA:49382	PDE6C	5146	HP:0000512	Abnormal electroretinogram
ORPHA:49382	PDE6C	5146	HP:0012043	Pendular nystagmus
ORPHA:49382	PDE6C	5146	HP:0000540	Hypermetropia
ORPHA:49382	GNAT2	2780	HP:0000613	Photophobia
ORPHA:49382	GNAT2	2780	HP:0000577	Exotropia
ORPHA:49382	GNAT2	2780	HP:0000505	Visual impairment
ORPHA:49382	GNAT2	2780	HP:0007641	Dyschromatopsia
ORPHA:49382	GNAT2	2780	HP:0000512	Abnormal electroretinogram
ORPHA:49382	GNAT2	2780	HP:0012043	Pendular nystagmus
ORPHA:49382	GNAT2	2780	HP:0000540	Hypermetropia
ORPHA:49382	CNGA3	1261	HP:0000613	Photophobia
ORPHA:49382	CNGA3	1261	HP:0000577	Exotropia
ORPHA:49382	CNGA3	1261	HP:0000505	Visual impairment
ORPHA:49382	CNGA3	1261	HP:0007641	Dyschromatopsia
ORPHA:49382	CNGA3	1261	HP:0000512	Abnormal electroretinogram
ORPHA:49382	CNGA3	1261	HP:0012043	Pendular nystagmus
ORPHA:49382	CNGA3	1261	HP:0000540	Hypermetropia
ORPHA:49382	PDE6H	5149	HP:0000613	Photophobia
ORPHA:49382	PDE6H	5149	HP:0000577	Exotropia
ORPHA:49382	PDE6H	5149	HP:0000505	Visual impairment
ORPHA:49382	PDE6H	5149	HP:0007641	Dyschromatopsia
ORPHA:49382	PDE6H	5149	HP:0000512	Abnormal electroretinogram
ORPHA:49382	PDE6H	5149	HP:0012043	Pendular nystagmus
ORPHA:49382	PDE6H	5149	HP:0000540	Hypermetropia
ORPHA:49382	ATF6	22926	HP:0000613	Photophobia
ORPHA:49382	ATF6	22926	HP:0000577	Exotropia
ORPHA:49382	ATF6	22926	HP:0000505	Visual impairment
ORPHA:49382	ATF6	22926	HP:0007641	Dyschromatopsia
ORPHA:49382	ATF6	22926	HP:0000512	Abnormal electroretinogram
ORPHA:49382	ATF6	22926	HP:0012043	Pendular nystagmus
ORPHA:49382	ATF6	22926	HP:0000540	Hypermetropia
OMIM:250460	RMRP	6023	HP:0001388	Joint laxity
OMIM:250460	RMRP	6023	HP:0003025	Metaphyseal irregularity
OMIM:250460	RMRP	6023	HP:0002715	Abnormality of the immune system
OMIM:250460	RMRP	6023	HP:0010049	Short metacarpal
OMIM:250460	RMRP	6023	HP:0002970	Genu varum
OMIM:250460	RMRP	6023	HP:0000925	Abnormality of the vertebral column
OMIM:250460	RMRP	6023	HP:0002983	Micromelia
OMIM:250460	RMRP	6023	HP:0006028	Metaphyseal cupping of metacarpals
OMIM:250460	RMRP	6023	HP:0001595	Abnormality of the hair
OMIM:250460	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:250460	RMRP	6023	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:250460	RMRP	6023	HP:0100255	Metaphyseal dysplasia
OMIM:250460	RMRP	6023	HP:0003026	Short long bone
OMIM:250460	RMRP	6023	HP:0003510	Severe short stature
OMIM:250460	RMRP	6023	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:600105	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600105	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613736	PSENEN	55851	HP:0100838	Recurrent cutaneous abscess formation
OMIM:613736	PSENEN	55851	HP:0012322	Perifolliculitis
OMIM:613736	PSENEN	55851	HP:0000006	Autosomal dominant inheritance
OMIM:613736	PSENEN	55851	HP:0040154	Acne inversa
OMIM:613736	PSENEN	55851	HP:0011132	Chronic furunculosis
OMIM:615024	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:615024	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
OMIM:615024	PNPLA1	285848	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	PNPLA1	285848	HP:0025114	Hypergranulosis
OMIM:580000	TRMU	55687	HP:0001427	Mitochondrial inheritance
OMIM:580000	TRMU	55687	HP:0011975	Aminoglycoside-induced hearing loss
OMIM:580000	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:580000	TRNS1	4574	HP:0011975	Aminoglycoside-induced hearing loss
OMIM:613863	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:613863	SCN9A	6335	HP:0007359	Focal seizures
OMIM:613863	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:613863	SCN9A	6335	HP:0002121	Absence seizures
OMIM:613863	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:613863	SCN9A	6335	HP:0003828	Variable expressivity
OMIM:147750	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:147750	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:147750	SALL4	57167	HP:0002996	Limited elbow movement
OMIM:147750	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:147750	SALL4	57167	HP:0008953	Pectoralis major hypoplasia
OMIM:147750	SALL4	57167	HP:0000365	Hearing impairment
OMIM:147750	SALL4	57167	HP:0000544	External ophthalmoplegia
OMIM:147750	SALL4	57167	HP:0000143	Rectovaginal fistula
OMIM:147750	SALL4	57167	HP:0001873	Thrombocytopenia
OMIM:147750	SALL4	57167	HP:0002650	Scoliosis
OMIM:147750	SALL4	57167	HP:0006064	Limited interphalangeal movement
OMIM:147750	SALL4	57167	HP:0001498	Carpal bone hypoplasia
OMIM:147750	SALL4	57167	HP:0010034	Short 1st metacarpal
OMIM:147750	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:147750	SALL4	57167	HP:0000486	Strabismus
OMIM:147750	SALL4	57167	HP:0006248	Limited wrist movement
OMIM:147750	SALL4	57167	HP:0009777	Absent thumb
OMIM:147750	SALL4	57167	HP:0009702	Carpal synostosis
OMIM:147750	SALL4	57167	HP:0001974	Leukocytosis
OMIM:147750	SALL4	57167	HP:0002023	Anal atresia
OMIM:147750	SALL4	57167	HP:0002974	Radioulnar synostosis
OMIM:147750	SALL4	57167	HP:0030241	Hypoplasia of deltoid muscle
OMIM:147750	SALL4	57167	HP:0002566	Intestinal malrotation
OMIM:147750	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:600791	SLC26A4	5172	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600791	KCNJ10	3766	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
OMIM:600791	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:600791	FOXI1	2299	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	FOXI1	2299	HP:0000407	Sensorineural hearing impairment
OMIM:600791	FOXI1	2299	HP:0000007	Autosomal recessive inheritance
OMIM:240600	GYS2	2998	HP:0011998	Postprandial hyperglycemia
OMIM:240600	GYS2	2998	HP:0003162	Fasting hypoglycemia
OMIM:240600	GYS2	2998	HP:0000007	Autosomal recessive inheritance
OMIM:240600	GYS2	2998	HP:0001250	Seizures
OMIM:240600	GYS2	2998	HP:0001998	Neonatal hypoglycemia
OMIM:240600	GYS2	2998	HP:0001946	Ketosis
OMIM:240600	GYS2	2998	HP:0002151	Increased serum lactate
OMIM:233100	SLC5A2	6524	HP:0003076	Glycosuria
OMIM:233100	SLC5A2	6524	HP:0000103	Polyuria
OMIM:233100	SLC5A2	6524	HP:0003828	Variable expressivity
OMIM:233100	SLC5A2	6524	HP:0002591	Polyphagia
OMIM:233100	SLC5A2	6524	HP:0000007	Autosomal recessive inheritance
OMIM:233100	SLC5A2	6524	HP:0001959	Polydipsia
OMIM:233100	SLC5A2	6524	HP:0000006	Autosomal dominant inheritance
OMIM:610156	INPP5E	56623	HP:0000750	Delayed speech and language development
OMIM:610156	INPP5E	56623	HP:0001956	Truncal obesity
OMIM:610156	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:610156	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:610156	INPP5E	56623	HP:0002342	Intellectual disability, moderate
OMIM:610156	INPP5E	56623	HP:0008915	Childhood-onset truncal obesity
OMIM:610156	INPP5E	56623	HP:0000518	Cataract
OMIM:610156	INPP5E	56623	HP:0000054	Micropenis
OMIM:610156	INPP5E	56623	HP:0000505	Visual impairment
ORPHA:79292	LCAT	3931	HP:0007957	Corneal opacity
ORPHA:79292	LCAT	3931	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:613205	LMNA	4000	HP:0001371	Flexion contracture
OMIM:613205	LMNA	4000	HP:0001508	Failure to thrive
OMIM:613205	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613205	LMNA	4000	HP:0006829	Severe muscular hypotonia
OMIM:613205	LMNA	4000	HP:0003828	Variable expressivity
OMIM:613205	LMNA	4000	HP:0003700	Generalized amyotrophy
OMIM:613205	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:613205	LMNA	4000	HP:0003741	Congenital muscular dystrophy
OMIM:613205	LMNA	4000	HP:0001883	Talipes
OMIM:613205	LMNA	4000	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:613205	LMNA	4000	HP:0003676	Progressive
OMIM:613205	LMNA	4000	HP:0003306	Spinal rigidity
OMIM:613205	LMNA	4000	HP:0001558	Decreased fetal movement
OMIM:613205	LMNA	4000	HP:0000467	Neck muscle weakness
OMIM:613205	LMNA	4000	HP:0001270	Motor delay
OMIM:609285	TPM2	7169	HP:0002058	Myopathic facies
OMIM:609285	TPM2	7169	HP:0003828	Variable expressivity
OMIM:609285	TPM2	7169	HP:0008872	Feeding difficulties in infancy
OMIM:609285	TPM2	7169	HP:0000218	High palate
OMIM:609285	TPM2	7169	HP:0002751	Kyphoscoliosis
OMIM:609285	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:609285	TPM2	7169	HP:0001425	Heterogeneous
OMIM:609285	TPM2	7169	HP:0000467	Neck muscle weakness
OMIM:609285	TPM2	7169	HP:0003691	Scapular winging
OMIM:609285	TPM2	7169	HP:0011463	Childhood onset
OMIM:609285	TPM2	7169	HP:0001265	Hyporeflexia
OMIM:609285	TPM2	7169	HP:0001290	Generalized hypotonia
OMIM:609285	TPM2	7169	HP:0003690	Limb muscle weakness
OMIM:609285	TPM2	7169	HP:0001371	Flexion contracture
OMIM:609285	TPM2	7169	HP:0003803	Type 1 muscle fiber predominance
OMIM:609285	TPM2	7169	HP:0002792	Reduced vital capacity
OMIM:609285	TPM2	7169	HP:0003798	Nemaline bodies
OMIM:609285	TPM2	7169	HP:0001270	Motor delay
OMIM:609285	TPM2	7169	HP:0002515	Waddling gait
OMIM:609285	TPM2	7169	HP:0001349	Facial diplegia
OMIM:609285	TPM2	7169	HP:0002355	Difficulty walking
OMIM:609285	TPM2	7169	HP:0003202	Skeletal muscle atrophy
OMIM:609285	TPM2	7169	HP:0003391	Gowers sign
OMIM:615542	GATA4	2626	HP:0000054	Micropenis
OMIM:615542	GATA4	2626	HP:0008715	Testicular dysgenesis
OMIM:615542	GATA4	2626	HP:0000051	Perineal hypospadias
OMIM:615542	GATA4	2626	HP:0000062	Ambiguous genitalia
OMIM:615542	GATA4	2626	HP:0000028	Cryptorchidism
OMIM:615542	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:615542	GATA4	2626	HP:0030260	Microphallus
OMIM:616373	RTEL1	51750	HP:0003829	Incomplete penetrance
OMIM:616373	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:616373	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:616373	RTEL1	51750	HP:0003581	Adult onset
ORPHA:411629	CTNS	1497	HP:0002900	Hypokalemia
ORPHA:411629	CTNS	1497	HP:0003126	Low-molecular-weight proteinuria
ORPHA:411629	CTNS	1497	HP:0000580	Pigmentary retinopathy
ORPHA:411629	CTNS	1497	HP:0000531	Corneal crystals
ORPHA:411629	CTNS	1497	HP:0003355	Aminoaciduria
ORPHA:411629	CTNS	1497	HP:0001994	Renal Fanconi syndrome
ORPHA:411629	CTNS	1497	HP:0002013	Vomiting
ORPHA:411629	CTNS	1497	HP:0000124	Renal tubular dysfunction
ORPHA:411629	CTNS	1497	HP:0002748	Rickets
ORPHA:411629	CTNS	1497	HP:0000613	Photophobia
ORPHA:411629	CTNS	1497	HP:0002926	Abnormality of thyroid physiology
ORPHA:411629	CTNS	1497	HP:0003076	Glycosuria
ORPHA:411629	CTNS	1497	HP:0003109	Hyperphosphaturia
ORPHA:411629	CTNS	1497	HP:0002148	Hypophosphatemia
ORPHA:411629	CTNS	1497	HP:0100511	Abnormality of vitamin D metabolism
ORPHA:411629	CTNS	1497	HP:0002019	Constipation
ORPHA:411629	CTNS	1497	HP:0001508	Failure to thrive
ORPHA:411629	CTNS	1497	HP:0004918	Hyperchloremic metabolic acidosis
ORPHA:411629	CTNS	1497	HP:0001959	Polydipsia
ORPHA:411629	CTNS	1497	HP:0001944	Dehydration
ORPHA:411629	CTNS	1497	HP:0001510	Growth delay
ORPHA:411629	CTNS	1497	HP:0001969	Tubulointerstitial abnormality
ORPHA:79273	CPOX	1371	HP:0008066	Abnormal blistering of the skin
ORPHA:79273	CPOX	1371	HP:0002017	Nausea and vomiting
ORPHA:79273	CPOX	1371	HP:0000992	Cutaneous photosensitivity
ORPHA:79273	CPOX	1371	HP:0002027	Abdominal pain
ORPHA:79273	CPOX	1371	HP:0000739	Anxiety
ORPHA:79273	CPOX	1371	HP:0000737	Irritability
ORPHA:79273	CPOX	1371	HP:0002019	Constipation
ORPHA:79273	CPOX	1371	HP:0000963	Thin skin
ORPHA:79273	CPOX	1371	HP:0003326	Myalgia
ORPHA:79273	CPOX	1371	HP:0000716	Depressivity
ORPHA:79273	CPOX	1371	HP:0001034	Hypermelanotic macule
ORPHA:79273	CPOX	1371	HP:0001289	Confusion
OMIM:617140	SON	6651	HP:0000490	Deeply set eye
OMIM:617140	SON	6651	HP:0002007	Frontal bossing
OMIM:617140	SON	6651	HP:0001508	Failure to thrive
OMIM:617140	SON	6651	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617140	SON	6651	HP:0001290	Generalized hypotonia
OMIM:617140	SON	6651	HP:0002119	Ventriculomegaly
OMIM:617140	SON	6651	HP:0002376	Developmental regression
OMIM:617140	SON	6651	HP:0000486	Strabismus
OMIM:617140	SON	6651	HP:0001773	Short foot
OMIM:617140	SON	6651	HP:0000219	Thin upper lip vermilion
OMIM:617140	SON	6651	HP:0000369	Low-set ears
OMIM:617140	SON	6651	HP:0100702	Arachnoid cyst
OMIM:617140	SON	6651	HP:0000324	Facial asymmetry
OMIM:617140	SON	6651	HP:0001263	Global developmental delay
OMIM:617140	SON	6651	HP:0100704	Cortical visual impairment
OMIM:617140	SON	6651	HP:0000648	Optic atrophy
OMIM:617140	SON	6651	HP:0011968	Feeding difficulties
OMIM:617140	SON	6651	HP:0000175	Cleft palate
OMIM:617140	SON	6651	HP:0001363	Craniosynostosis
OMIM:617140	SON	6651	HP:0002650	Scoliosis
OMIM:617140	SON	6651	HP:0001382	Joint hypermobility
OMIM:617140	SON	6651	HP:0000160	Narrow mouth
OMIM:617140	SON	6651	HP:0000540	Hypermetropia
OMIM:617140	SON	6651	HP:0000431	Wide nasal bridge
OMIM:617140	SON	6651	HP:0000006	Autosomal dominant inheritance
OMIM:617140	SON	6651	HP:0001321	Cerebellar hypoplasia
OMIM:617140	SON	6651	HP:0000322	Short philtrum
OMIM:617140	SON	6651	HP:0001371	Flexion contracture
OMIM:617140	SON	6651	HP:0000085	Horseshoe kidney
OMIM:617140	SON	6651	HP:0000218	High palate
OMIM:617140	SON	6651	HP:0001249	Intellectual disability
OMIM:617140	SON	6651	HP:0002937	Hemivertebrae
OMIM:617140	SON	6651	HP:0000494	Downslanted palpebral fissures
OMIM:617140	SON	6651	HP:0000772	Abnormality of the ribs
OMIM:617140	SON	6651	HP:0005280	Depressed nasal bridge
OMIM:617140	SON	6651	HP:0000164	Abnormality of the dentition
OMIM:617140	SON	6651	HP:0004322	Short stature
OMIM:617140	SON	6651	HP:0200055	Small hand
OMIM:617140	SON	6651	HP:0002808	Kyphosis
OMIM:146800	KRT2	3849	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:146800	KRT2	3849	HP:0000006	Autosomal dominant inheritance
OMIM:614376	WDR19	57728	HP:0006644	Thoracic dysplasia
OMIM:614376	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614376	WDR19	57728	HP:0001773	Short foot
OMIM:614376	WDR19	57728	HP:0008905	Rhizomelia
OMIM:614376	WDR19	57728	HP:0008081	Pes valgus
OMIM:614376	WDR19	57728	HP:0000774	Narrow chest
OMIM:614376	WDR19	57728	HP:0003259	Elevated serum creatinine
OMIM:614376	WDR19	57728	HP:0000023	Inguinal hernia
OMIM:614376	WDR19	57728	HP:0100866	Short iliac bones
OMIM:614376	WDR19	57728	HP:0000518	Cataract
OMIM:614376	WDR19	57728	HP:0000545	Myopia
OMIM:614376	WDR19	57728	HP:0003016	Metaphyseal widening
OMIM:614376	WDR19	57728	HP:0001156	Brachydactyly
OMIM:614376	WDR19	57728	HP:0004743	Chronic tubulointerstitial nephritis
OMIM:614376	WDR19	57728	HP:0000093	Proteinuria
OMIM:614376	WDR19	57728	HP:0000219	Thin upper lip vermilion
OMIM:614376	WDR19	57728	HP:0000089	Renal hypoplasia
OMIM:614376	WDR19	57728	HP:0000293	Full cheeks
OMIM:614376	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
ORPHA:35173	EBP	10682	HP:0007431	Congenital ichthyosiform erythroderma
ORPHA:35173	EBP	10682	HP:0001231	Abnormality of the fingernails
ORPHA:35173	EBP	10682	HP:0010783	Erythema
ORPHA:35173	EBP	10682	HP:0000508	Ptosis
ORPHA:35173	EBP	10682	HP:0000648	Optic atrophy
ORPHA:35173	EBP	10682	HP:0001373	Joint dislocation
ORPHA:35173	EBP	10682	HP:0000286	Epicanthus
ORPHA:35173	EBP	10682	HP:0004552	Scarring alopecia of scalp
ORPHA:35173	EBP	10682	HP:0100556	Hemiatrophy
ORPHA:35173	EBP	10682	HP:0002808	Kyphosis
OMIM:616099	KANK2	25959	HP:0000007	Autosomal recessive inheritance
OMIM:616099	KANK2	25959	HP:0000535	Sparse and thin eyebrow
OMIM:616099	KANK2	25959	HP:0000982	Palmoplantar keratoderma
OMIM:616099	KANK2	25959	HP:0002231	Sparse body hair
OMIM:616099	KANK2	25959	HP:0040149	Woolly scalp hair
OMIM:616099	KANK2	25959	HP:0002224	Woolly hair
OMIM:616099	KANK2	25959	HP:0000653	Sparse eyelashes
OMIM:616099	KANK2	25959	HP:0002209	Sparse scalp hair
OMIM:615268	ATP8A2	51761	HP:0003577	Congenital onset
OMIM:615268	ATP8A2	51761	HP:0001260	Dysarthria
OMIM:615268	ATP8A2	51761	HP:0000007	Autosomal recessive inheritance
OMIM:615268	ATP8A2	51761	HP:0002059	Cerebral atrophy
OMIM:615268	ATP8A2	51761	HP:0002078	Truncal ataxia
OMIM:615268	ATP8A2	51761	HP:0001249	Intellectual disability
OMIM:615268	ATP8A2	51761	HP:0002540	Inability to walk
OMIM:615268	ATP8A2	51761	HP:0001272	Cerebellar atrophy
OMIM:615268	ATP8A2	51761	HP:0007371	Corpus callosum atrophy
OMIM:613385	ITCH	83737	HP:0002960	Autoimmunity
OMIM:613385	ITCH	83737	HP:0000358	Posteriorly rotated ears
OMIM:613385	ITCH	83737	HP:0002240	Hepatomegaly
OMIM:613385	ITCH	83737	HP:0000331	Short chin
OMIM:613385	ITCH	83737	HP:0000520	Proptosis
OMIM:613385	ITCH	83737	HP:0002007	Frontal bossing
OMIM:613385	ITCH	83737	HP:0000268	Dolichocephaly
OMIM:613385	ITCH	83737	HP:0000269	Prominent occiput
OMIM:613385	ITCH	83737	HP:0001999	Abnormal facial shape
OMIM:613385	ITCH	83737	HP:0000007	Autosomal recessive inheritance
OMIM:613385	ITCH	83737	HP:0001263	Global developmental delay
OMIM:613385	ITCH	83737	HP:0012385	Camptodactyly
OMIM:613385	ITCH	83737	HP:0030084	Clinodactyly
OMIM:613385	ITCH	83737	HP:0004482	Relative macrocephaly
OMIM:613385	ITCH	83737	HP:0001744	Splenomegaly
OMIM:613385	ITCH	83737	HP:0000369	Low-set ears
OMIM:613154	LARGE1	9215	HP:0001249	Intellectual disability
OMIM:613154	LARGE1	9215	HP:0000238	Hydrocephalus
OMIM:613154	LARGE1	9215	HP:0001305	Dandy-Walker malformation
OMIM:613154	LARGE1	9215	HP:0000518	Cataract
OMIM:613154	LARGE1	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	LARGE1	9215	HP:0001371	Flexion contracture
OMIM:613154	LARGE1	9215	HP:0007973	Retinal dysplasia
OMIM:613154	LARGE1	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613154	LARGE1	9215	HP:0000648	Optic atrophy
OMIM:613154	LARGE1	9215	HP:0006829	Severe muscular hypotonia
OMIM:613154	LARGE1	9215	HP:0012110	Hypoplasia of the pons
OMIM:613154	LARGE1	9215	HP:0003560	Muscular dystrophy
OMIM:613154	LARGE1	9215	HP:0007260	Type II lissencephaly
OMIM:613154	LARGE1	9215	HP:0001284	Areflexia
OMIM:613001	FGFR1	2260	HP:0100702	Arachnoid cyst
OMIM:613001	FGFR1	2260	HP:0001442	Somatic mosaicism
OMIM:613001	FGFR1	2260	HP:0001631	Atrial septal defect
OMIM:613001	FGFR1	2260	HP:0000238	Hydrocephalus
OMIM:613001	FGFR1	2260	HP:0001031	Subcutaneous lipoma
OMIM:613001	FGFR1	2260	HP:0007676	Hypoplasia of the iris
OMIM:613001	FGFR1	2260	HP:0000568	Microphthalmia
OMIM:613001	FGFR1	2260	HP:0012032	Lipoma
OMIM:613001	FGFR1	2260	HP:0001250	Seizures
OMIM:613001	FGFR1	2260	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:613001	FGFR1	2260	HP:0001629	Ventricular septal defect
OMIM:613001	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
OMIM:613001	FGFR1	2260	HP:0001596	Alopecia
OMIM:613001	FGFR1	2260	HP:0001682	Subvalvular aortic stenosis
OMIM:613001	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:613001	FGFR1	2260	HP:0000593	Abnormality of the anterior chamber
OMIM:613001	FGFR1	2260	HP:0000125	Pelvic kidney
OMIM:613001	FGFR1	2260	HP:0000625	Cleft eyelid
OMIM:613001	FGFR1	2260	HP:0000126	Hydronephrosis
OMIM:613001	FGFR1	2260	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613001	FGFR1	2260	HP:0001263	Global developmental delay
OMIM:613001	FGFR1	2260	HP:0001140	Epibulbar dermoid
OMIM:613001	FGFR1	2260	HP:0001321	Cerebellar hypoplasia
OMIM:613001	FGFR1	2260	HP:0007546	Linear hyperpigmentation
OMIM:613001	FGFR1	2260	HP:0000647	Sclerocornea
OMIM:613001	FGFR1	2260	HP:0001305	Dandy-Walker malformation
OMIM:613001	FGFR1	2260	HP:0100251	Lipomas of the central neryous system
OMIM:613001	FGFR1	2260	HP:0002539	Cortical dysplasia
OMIM:613001	FGFR1	2260	HP:0003745	Sporadic
OMIM:617039	PRDM6	93166	HP:0001643	Patent ductus arteriosus
OMIM:617039	PRDM6	93166	HP:0000006	Autosomal dominant inheritance
ORPHA:2020	HACD1	9200	HP:0000767	Pectus excavatum
ORPHA:2020	HACD1	9200	HP:0002205	Recurrent respiratory infections
ORPHA:2020	HACD1	9200	HP:0001315	Reduced tendon reflexes
ORPHA:2020	HACD1	9200	HP:0003198	Myopathy
ORPHA:2020	HACD1	9200	HP:0002650	Scoliosis
ORPHA:2020	HACD1	9200	HP:0001252	Muscular hypotonia
ORPHA:2020	MAP3K20	51776	HP:0000767	Pectus excavatum
ORPHA:2020	MAP3K20	51776	HP:0002205	Recurrent respiratory infections
ORPHA:2020	MAP3K20	51776	HP:0001315	Reduced tendon reflexes
ORPHA:2020	MAP3K20	51776	HP:0003198	Myopathy
ORPHA:2020	MAP3K20	51776	HP:0002650	Scoliosis
ORPHA:2020	MAP3K20	51776	HP:0001252	Muscular hypotonia
ORPHA:2020	TPM2	7169	HP:0000767	Pectus excavatum
ORPHA:2020	TPM2	7169	HP:0002205	Recurrent respiratory infections
ORPHA:2020	TPM2	7169	HP:0001315	Reduced tendon reflexes
ORPHA:2020	TPM2	7169	HP:0003198	Myopathy
ORPHA:2020	TPM2	7169	HP:0002650	Scoliosis
ORPHA:2020	TPM2	7169	HP:0001252	Muscular hypotonia
ORPHA:2020	TPM3	7170	HP:0000767	Pectus excavatum
ORPHA:2020	TPM3	7170	HP:0002205	Recurrent respiratory infections
ORPHA:2020	TPM3	7170	HP:0001315	Reduced tendon reflexes
ORPHA:2020	TPM3	7170	HP:0003198	Myopathy
ORPHA:2020	TPM3	7170	HP:0002650	Scoliosis
ORPHA:2020	TPM3	7170	HP:0001252	Muscular hypotonia
ORPHA:2020	SELENON	57190	HP:0000767	Pectus excavatum
ORPHA:2020	SELENON	57190	HP:0002205	Recurrent respiratory infections
ORPHA:2020	SELENON	57190	HP:0001315	Reduced tendon reflexes
ORPHA:2020	SELENON	57190	HP:0003198	Myopathy
ORPHA:2020	SELENON	57190	HP:0002650	Scoliosis
ORPHA:2020	SELENON	57190	HP:0001252	Muscular hypotonia
ORPHA:2020	MYL2	4633	HP:0000767	Pectus excavatum
ORPHA:2020	MYL2	4633	HP:0002205	Recurrent respiratory infections
ORPHA:2020	MYL2	4633	HP:0001315	Reduced tendon reflexes
ORPHA:2020	MYL2	4633	HP:0003198	Myopathy
ORPHA:2020	MYL2	4633	HP:0002650	Scoliosis
ORPHA:2020	MYL2	4633	HP:0001252	Muscular hypotonia
ORPHA:2020	ACTA1	58	HP:0000767	Pectus excavatum
ORPHA:2020	ACTA1	58	HP:0002205	Recurrent respiratory infections
ORPHA:2020	ACTA1	58	HP:0001315	Reduced tendon reflexes
ORPHA:2020	ACTA1	58	HP:0003198	Myopathy
ORPHA:2020	ACTA1	58	HP:0002650	Scoliosis
ORPHA:2020	ACTA1	58	HP:0001252	Muscular hypotonia
ORPHA:2020	ITGA7	3679	HP:0000767	Pectus excavatum
ORPHA:2020	ITGA7	3679	HP:0002205	Recurrent respiratory infections
ORPHA:2020	ITGA7	3679	HP:0001315	Reduced tendon reflexes
ORPHA:2020	ITGA7	3679	HP:0003198	Myopathy
ORPHA:2020	ITGA7	3679	HP:0002650	Scoliosis
ORPHA:2020	ITGA7	3679	HP:0001252	Muscular hypotonia
ORPHA:75374	RGS9	8787	HP:0000505	Visual impairment
ORPHA:75374	RGS9	8787	HP:0000613	Photophobia
ORPHA:75374	RGS9BP	388531	HP:0000505	Visual impairment
ORPHA:75374	RGS9BP	388531	HP:0000613	Photophobia
OMIM:610217	PLA2G6	8398	HP:0003676	Progressive
OMIM:610217	PLA2G6	8398	HP:0002180	Neurodegeneration
OMIM:610217	PLA2G6	8398	HP:0100710	Impulsivity
OMIM:610217	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:610217	PLA2G6	8398	HP:0002072	Chorea
OMIM:610217	PLA2G6	8398	HP:0002075	Dysdiadochokinesis
OMIM:610217	PLA2G6	8398	HP:0000750	Delayed speech and language development
OMIM:610217	PLA2G6	8398	HP:0002067	Bradykinesia
OMIM:610217	PLA2G6	8398	HP:0002080	Intention tremor
OMIM:610217	PLA2G6	8398	HP:0011968	Feeding difficulties
OMIM:610217	PLA2G6	8398	HP:0000712	Emotional lability
OMIM:610217	PLA2G6	8398	HP:0001310	Dysmetria
OMIM:610217	PLA2G6	8398	HP:0000736	Short attention span
OMIM:610217	PLA2G6	8398	HP:0003812	Phenotypic variability
OMIM:610217	PLA2G6	8398	HP:0000639	Nystagmus
OMIM:610217	PLA2G6	8398	HP:0002066	Gait ataxia
OMIM:610217	PLA2G6	8398	HP:0007772	Impaired smooth pursuit
OMIM:610217	PLA2G6	8398	HP:0002185	Neurofibrillary tangles
OMIM:610217	PLA2G6	8398	HP:0003487	Babinski sign
OMIM:610217	PLA2G6	8398	HP:0001260	Dysarthria
OMIM:610217	PLA2G6	8398	HP:0001272	Cerebellar atrophy
OMIM:610217	PLA2G6	8398	HP:0001257	Spasticity
OMIM:610217	PLA2G6	8398	HP:0002059	Cerebral atrophy
OMIM:610217	PLA2G6	8398	HP:0001332	Dystonia
OMIM:610217	PLA2G6	8398	HP:0002015	Dysphagia
OMIM:610217	PLA2G6	8398	HP:0001268	Mental deterioration
OMIM:610217	PLA2G6	8398	HP:0000752	Hyperactivity
OMIM:610217	PLA2G6	8398	HP:0000648	Optic atrophy
OMIM:610217	PLA2G6	8398	HP:0001250	Seizures
OMIM:610217	PLA2G6	8398	HP:0011463	Childhood onset
OMIM:610217	PLA2G6	8398	HP:0001884	Talipes calcaneovalgus
OMIM:133100	SH2B3	10019	HP:0001658	Myocardial infarction
OMIM:133100	SH2B3	10019	HP:0001898	Increased red blood cell mass
OMIM:133100	SH2B3	10019	HP:0002641	Peripheral thrombosis
OMIM:133100	SH2B3	10019	HP:0002875	Exertional dyspnea
OMIM:133100	SH2B3	10019	HP:0002315	Headache
OMIM:133100	SH2B3	10019	HP:0001342	Cerebral hemorrhage
OMIM:133100	SH2B3	10019	HP:0001899	Increased hematocrit
OMIM:133100	SH2B3	10019	HP:0001050	Plethora
OMIM:133100	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:133100	SH2B3	10019	HP:0001900	Increased hemoglobin
OMIM:133100	SH2B3	10019	HP:0000822	Hypertension
OMIM:133100	SH2B3	10019	HP:0001744	Splenomegaly
OMIM:133100	SH2B3	10019	HP:0002321	Vertigo
OMIM:133100	SH2B3	10019	HP:0012378	Fatigue
OMIM:133100	JAK2	3717	HP:0001658	Myocardial infarction
OMIM:133100	JAK2	3717	HP:0001898	Increased red blood cell mass
OMIM:133100	JAK2	3717	HP:0002641	Peripheral thrombosis
OMIM:133100	JAK2	3717	HP:0002875	Exertional dyspnea
OMIM:133100	JAK2	3717	HP:0002315	Headache
OMIM:133100	JAK2	3717	HP:0001342	Cerebral hemorrhage
OMIM:133100	JAK2	3717	HP:0001899	Increased hematocrit
OMIM:133100	JAK2	3717	HP:0001050	Plethora
OMIM:133100	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:133100	JAK2	3717	HP:0001900	Increased hemoglobin
OMIM:133100	JAK2	3717	HP:0000822	Hypertension
OMIM:133100	JAK2	3717	HP:0001744	Splenomegaly
OMIM:133100	JAK2	3717	HP:0002321	Vertigo
OMIM:133100	JAK2	3717	HP:0012378	Fatigue
OMIM:601457	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:601457	RAG1	5896	HP:0000509	Conjunctivitis
OMIM:601457	RAG1	5896	HP:0005390	Recurrent opportunistic infections
OMIM:601457	RAG1	5896	HP:0002090	Pneumonia
OMIM:601457	RAG1	5896	HP:0002014	Diarrhea
OMIM:601457	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:601457	RAG1	5896	HP:0003139	Panhypogammaglobulinemia
OMIM:601457	RAG1	5896	HP:0001287	Meningitis
OMIM:601457	RAG1	5896	HP:0001508	Failure to thrive
OMIM:601457	RAG1	5896	HP:0001369	Arthritis
OMIM:601457	RAG1	5896	HP:0004430	Severe combined immunodeficiency
OMIM:601457	RAG1	5896	HP:0005403	Decrease in T cell count
OMIM:601457	RAG1	5896	HP:0008866	Failure to thrive secondary to recurrent infections
OMIM:601457	RAG1	5896	HP:0000388	Otitis media
OMIM:601457	RAG1	5896	HP:0000265	Mastoiditis
OMIM:601457	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:601457	RAG2	5897	HP:0000509	Conjunctivitis
OMIM:601457	RAG2	5897	HP:0005390	Recurrent opportunistic infections
OMIM:601457	RAG2	5897	HP:0002090	Pneumonia
OMIM:601457	RAG2	5897	HP:0002014	Diarrhea
OMIM:601457	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:601457	RAG2	5897	HP:0003139	Panhypogammaglobulinemia
OMIM:601457	RAG2	5897	HP:0001287	Meningitis
OMIM:601457	RAG2	5897	HP:0001508	Failure to thrive
OMIM:601457	RAG2	5897	HP:0001369	Arthritis
OMIM:601457	RAG2	5897	HP:0004430	Severe combined immunodeficiency
OMIM:601457	RAG2	5897	HP:0005403	Decrease in T cell count
OMIM:601457	RAG2	5897	HP:0008866	Failure to thrive secondary to recurrent infections
OMIM:601457	RAG2	5897	HP:0000388	Otitis media
OMIM:601457	RAG2	5897	HP:0000265	Mastoiditis
OMIM:615552	SCN11A	11280	HP:0002459	Dysautonomia
OMIM:615552	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:615552	SCN11A	11280	HP:0012531	Pain
OMIM:611038	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:611038	RAX	30062	HP:0000647	Sclerocornea
OMIM:611038	RAX	30062	HP:0009755	Ankyloblepharon
OMIM:611038	RAX	30062	HP:0000528	Anophthalmia
OMIM:611038	RAX	30062	HP:0000568	Microphthalmia
OMIM:609069	PTF1A	256297	HP:0000325	Triangular face
OMIM:609069	PTF1A	256297	HP:0000007	Autosomal recessive inheritance
OMIM:609069	PTF1A	256297	HP:0000377	Abnormality of the pinna
OMIM:609069	PTF1A	256297	HP:0000609	Optic nerve hypoplasia
OMIM:609069	PTF1A	256297	HP:0000331	Short chin
OMIM:609069	PTF1A	256297	HP:0000444	Convex nasal ridge
OMIM:609069	PTF1A	256297	HP:0001522	Death in infancy
OMIM:609069	PTF1A	256297	HP:0001250	Seizures
OMIM:609069	PTF1A	256297	HP:0000369	Low-set ears
OMIM:609069	PTF1A	256297	HP:0001508	Failure to thrive
OMIM:609069	PTF1A	256297	HP:0001387	Joint stiffness
OMIM:609069	PTF1A	256297	HP:0012642	Cerebellar agenesis
OMIM:609069	PTF1A	256297	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:609069	PTF1A	256297	HP:0000252	Microcephaly
OMIM:610003	CLN8	2055	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:610003	CLN8	2055	HP:0000711	Restlessness
OMIM:610003	CLN8	2055	HP:0000737	Irritability
OMIM:610003	CLN8	2055	HP:0002312	Clumsiness
OMIM:610003	CLN8	2055	HP:0001272	Cerebellar atrophy
OMIM:610003	CLN8	2055	HP:0001249	Intellectual disability
OMIM:610003	CLN8	2055	HP:0002059	Cerebral atrophy
OMIM:610003	CLN8	2055	HP:0002353	EEG abnormality
OMIM:610003	CLN8	2055	HP:0001268	Mental deterioration
OMIM:610003	CLN8	2055	HP:0000007	Autosomal recessive inheritance
OMIM:610003	CLN8	2055	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:610003	CLN8	2055	HP:0002069	Generalized tonic-clonic seizures
OMIM:610003	CLN8	2055	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:610003	CLN8	2055	HP:0003677	Slow progression
OMIM:617118	NPRL3	8131	HP:0000006	Autosomal dominant inheritance
OMIM:617118	NPRL3	8131	HP:0003829	Incomplete penetrance
OMIM:118200	MPZ	4359	HP:0001425	Heterogeneous
OMIM:118200	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:118200	MPZ	4359	HP:0001765	Hammertoe
OMIM:118200	MPZ	4359	HP:0003382	Hypertrophic nerve changes
OMIM:118200	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118200	MPZ	4359	HP:0001761	Pes cavus
OMIM:118200	MPZ	4359	HP:0003621	Juvenile onset
OMIM:118200	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:118200	MPZ	4359	HP:0003376	Steppage gait
OMIM:118200	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:118200	MPZ	4359	HP:0001284	Areflexia
OMIM:118200	MPZ	4359	HP:0003828	Variable expressivity
OMIM:118200	MPZ	4359	HP:0003587	Insidious onset
OMIM:118200	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:118200	MPZ	4359	HP:0003677	Slow progression
OMIM:118200	MPZ	4359	HP:0011096	Peripheral demyelination
OMIM:118200	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:118200	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118200	MPZ	4359	HP:0001178	Ulnar claw
OMIM:118200	MPZ	4359	HP:0012074	Tonic pupil
OMIM:118200	MPZ	4359	HP:0004336	Myelin outfoldings
OMIM:118200	MPZ	4359	HP:0001171	Split hand
OMIM:118200	MPZ	4359	HP:0003449	Cold-induced muscle cramps
OMIM:118200	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:118200	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:118200	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:610377	MVK	4598	HP:0000239	Large fontanelles
OMIM:610377	MVK	4598	HP:0002073	Progressive cerebellar ataxia
OMIM:610377	MVK	4598	HP:0000268	Dolichocephaly
OMIM:610377	MVK	4598	HP:0000325	Triangular face
OMIM:610377	MVK	4598	HP:0002910	Elevated hepatic transaminases
OMIM:610377	MVK	4598	HP:0000369	Low-set ears
OMIM:610377	MVK	4598	HP:0000988	Skin rash
OMIM:610377	MVK	4598	HP:0006564	Fluctuating hepatomegaly
OMIM:610377	MVK	4598	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610377	MVK	4598	HP:0001508	Failure to thrive
OMIM:610377	MVK	4598	HP:0002014	Diarrhea
OMIM:610377	MVK	4598	HP:0000252	Microcephaly
OMIM:610377	MVK	4598	HP:0000592	Blue sclerae
OMIM:610377	MVK	4598	HP:0001263	Global developmental delay
OMIM:610377	MVK	4598	HP:0001974	Leukocytosis
OMIM:610377	MVK	4598	HP:0002716	Lymphadenopathy
OMIM:610377	MVK	4598	HP:0000518	Cataract
OMIM:610377	MVK	4598	HP:0000007	Autosomal recessive inheritance
OMIM:610377	MVK	4598	HP:0000494	Downslanted palpebral fissures
OMIM:610377	MVK	4598	HP:0002335	Agenesis of cerebellar vermis
OMIM:610377	MVK	4598	HP:0002013	Vomiting
OMIM:610377	MVK	4598	HP:0000358	Posteriorly rotated ears
OMIM:610377	MVK	4598	HP:0002059	Cerebral atrophy
OMIM:610377	MVK	4598	HP:0004819	Normocytic hypoplastic anemia
OMIM:610377	MVK	4598	HP:0006268	Fluctuating splenomegaly
OMIM:610377	MVK	4598	HP:0012282	Morbilliform rash
OMIM:610377	MVK	4598	HP:0002829	Arthralgia
OMIM:610377	MVK	4598	HP:0012072	Aciduria
OMIM:610377	MVK	4598	HP:0001290	Generalized hypotonia
OMIM:610377	MVK	4598	HP:0000639	Nystagmus
OMIM:610377	MVK	4598	HP:0001272	Cerebellar atrophy
OMIM:610377	MVK	4598	HP:0001873	Thrombocytopenia
OMIM:610377	MVK	4598	HP:0004322	Short stature
OMIM:610377	MVK	4598	HP:0000969	Edema
OMIM:616457	CAD	790	HP:0001263	Global developmental delay
OMIM:616457	CAD	790	HP:0003676	Progressive
OMIM:616457	CAD	790	HP:0001947	Renal tubular acidosis
OMIM:616457	CAD	790	HP:0001981	Schistocytosis
OMIM:616457	CAD	790	HP:0001903	Anemia
OMIM:616457	CAD	790	HP:0002136	Broad-based gait
OMIM:616457	CAD	790	HP:0004823	Anisopoikilocytosis
OMIM:616457	CAD	790	HP:0000007	Autosomal recessive inheritance
OMIM:616457	CAD	790	HP:0001927	Acanthocytosis
OMIM:616457	CAD	790	HP:0003593	Infantile onset
OMIM:616457	CAD	790	HP:0002133	Status epilepticus
OMIM:616457	CAD	790	HP:0002465	Poor speech
OMIM:616457	CAD	790	HP:0001290	Generalized hypotonia
OMIM:616457	CAD	790	HP:0001987	Hyperammonemia
OMIM:616457	CAD	790	HP:0002376	Developmental regression
OMIM:616457	CAD	790	HP:0200134	Epileptic encephalopathy
OMIM:270750	DSTYK	25778	HP:0001258	Spastic paraplegia
OMIM:270750	DSTYK	25778	HP:0003487	Babinski sign
OMIM:270750	DSTYK	25778	HP:0007340	Lower limb muscle weakness
OMIM:270750	DSTYK	25778	HP:0100543	Cognitive impairment
OMIM:270750	DSTYK	25778	HP:0000007	Autosomal recessive inheritance
OMIM:270750	DSTYK	25778	HP:0000347	Micrognathia
OMIM:270750	DSTYK	25778	HP:0001045	Vitiligo
OMIM:270750	DSTYK	25778	HP:0004771	Premature graying of body hair
OMIM:270750	DSTYK	25778	HP:0000278	Retrognathia
OMIM:270750	DSTYK	25778	HP:0005586	Hyperpigmentation in sun-exposed areas
OMIM:270750	DSTYK	25778	HP:0000252	Microcephaly
OMIM:270750	DSTYK	25778	HP:0000275	Narrow face
OMIM:270750	DSTYK	25778	HP:0001347	Hyperreflexia
OMIM:305400	FGD1	2245	HP:0000049	Shawl scrotum
OMIM:305400	FGD1	2245	HP:0000431	Wide nasal bridge
OMIM:305400	FGD1	2245	HP:0007018	Attention deficit hyperactivity disorder
OMIM:305400	FGD1	2245	HP:0003502	Mild short stature
OMIM:305400	FGD1	2245	HP:0000540	Hypermetropia
OMIM:305400	FGD1	2245	HP:0001773	Short foot
OMIM:305400	FGD1	2245	HP:0000028	Cryptorchidism
OMIM:305400	FGD1	2245	HP:0000463	Anteverted nares
OMIM:305400	FGD1	2245	HP:0000316	Hypertelorism
OMIM:305400	FGD1	2245	HP:0000823	Delayed puberty
OMIM:305400	FGD1	2245	HP:0001544	Prominent umbilicus
OMIM:305400	FGD1	2245	HP:0001249	Intellectual disability
OMIM:305400	FGD1	2245	HP:0002055	Curved linear dimple below the lower lip
OMIM:305400	FGD1	2245	HP:0000349	Widow's peak
OMIM:305400	FGD1	2245	HP:0003318	Cervical spine hypermobility
OMIM:305400	FGD1	2245	HP:0004279	Short palm
OMIM:305400	FGD1	2245	HP:0000175	Cleft palate
OMIM:305400	FGD1	2245	HP:0009466	Radial deviation of finger
OMIM:305400	FGD1	2245	HP:0000494	Downslanted palpebral fissures
OMIM:305400	FGD1	2245	HP:0001169	Broad palm
OMIM:305400	FGD1	2245	HP:0001508	Failure to thrive
OMIM:305400	FGD1	2245	HP:0000023	Inguinal hernia
OMIM:305400	FGD1	2245	HP:0000470	Short neck
OMIM:305400	FGD1	2245	HP:0000508	Ptosis
OMIM:305400	FGD1	2245	HP:0001419	X-linked recessive inheritance
OMIM:305400	FGD1	2245	HP:0000486	Strabismus
OMIM:305400	FGD1	2245	HP:0000327	Hypoplasia of the maxilla
OMIM:305400	FGD1	2245	HP:0001187	Hyperextensibility of the finger joints
OMIM:305400	FGD1	2245	HP:0030084	Clinodactyly
OMIM:305400	FGD1	2245	HP:0003311	Hypoplasia of the odontoid process
OMIM:305400	FGD1	2245	HP:0001769	Broad foot
OMIM:305400	FGD1	2245	HP:0000954	Single transverse palmar crease
OMIM:305400	FGD1	2245	HP:0012774	Increased upper to lower segment ratio
OMIM:305400	FGD1	2245	HP:0009748	Large earlobe
OMIM:305400	FGD1	2245	HP:0001159	Syndactyly
OMIM:305400	FGD1	2245	HP:0002650	Scoliosis
OMIM:305400	FGD1	2245	HP:0000767	Pectus excavatum
OMIM:305400	FGD1	2245	HP:0000289	Broad philtrum
OMIM:305400	FGD1	2245	HP:0001156	Brachydactyly
OMIM:305400	FGD1	2245	HP:0000204	Cleft upper lip
OMIM:305400	FGD1	2245	HP:0000668	Hypodontia
OMIM:305400	FGD1	2245	HP:0003196	Short nose
OMIM:305400	FGD1	2245	HP:0000311	Round face
OMIM:300321	FLNA	2316	HP:0001417	X-linked inheritance
OMIM:300321	FLNA	2316	HP:0002019	Constipation
OMIM:300321	FLNA	2316	HP:0011246	Underdeveloped superior crus of antihelix
OMIM:300321	FLNA	2316	HP:0001319	Neonatal hypotonia
OMIM:300321	FLNA	2316	HP:0002003	Large forehead
OMIM:300321	FLNA	2316	HP:0000750	Delayed speech and language development
OMIM:617339	MDH2	4191	HP:0001250	Seizures
OMIM:617339	MDH2	4191	HP:0001263	Global developmental delay
OMIM:617339	MDH2	4191	HP:0002490	Increased CSF lactate
OMIM:617339	MDH2	4191	HP:0200134	Epileptic encephalopathy
OMIM:617339	MDH2	4191	HP:0011968	Feeding difficulties
OMIM:617339	MDH2	4191	HP:0012448	Delayed myelination
OMIM:617339	MDH2	4191	HP:0002151	Increased serum lactate
OMIM:617339	MDH2	4191	HP:0002421	Poor head control
OMIM:617339	MDH2	4191	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617339	MDH2	4191	HP:0002019	Constipation
OMIM:617339	MDH2	4191	HP:0002540	Inability to walk
OMIM:617339	MDH2	4191	HP:0001272	Cerebellar atrophy
OMIM:617339	MDH2	4191	HP:0000007	Autosomal recessive inheritance
OMIM:617339	MDH2	4191	HP:0003202	Skeletal muscle atrophy
OMIM:617339	MDH2	4191	HP:0000486	Strabismus
OMIM:617339	MDH2	4191	HP:0001508	Failure to thrive
OMIM:617339	MDH2	4191	HP:0001344	Absent speech
OMIM:605909	PINK1	65018	HP:0001332	Dystonia
OMIM:605909	PINK1	65018	HP:0002172	Postural instability
OMIM:605909	PINK1	65018	HP:0003593	Infantile onset
OMIM:605909	PINK1	65018	HP:0000739	Anxiety
OMIM:605909	PINK1	65018	HP:0002067	Bradykinesia
OMIM:605909	PINK1	65018	HP:0003677	Slow progression
OMIM:605909	PINK1	65018	HP:0000012	Urinary urgency
OMIM:605909	PINK1	65018	HP:0002322	Resting tremor
OMIM:605909	PINK1	65018	HP:0001347	Hyperreflexia
OMIM:605909	PINK1	65018	HP:0000716	Depressivity
OMIM:605909	PINK1	65018	HP:0000726	Dementia
OMIM:605909	PINK1	65018	HP:0002063	Rigidity
OMIM:605909	PINK1	65018	HP:0000007	Autosomal recessive inheritance
OMIM:605909	PINK1	65018	HP:0001300	Parkinsonism
OMIM:612300	CD59	966	HP:0002922	Increased CSF protein
OMIM:612300	CD59	966	HP:0001284	Areflexia
OMIM:612300	CD59	966	HP:0000007	Autosomal recessive inheritance
OMIM:612300	CD59	966	HP:0001290	Generalized hypotonia
OMIM:612300	CD59	966	HP:0003593	Infantile onset
OMIM:612300	CD59	966	HP:0004818	Paroxysmal nocturnal hemoglobinuria
OMIM:612300	CD59	966	HP:0001878	Hemolytic anemia
OMIM:612300	CD59	966	HP:0003202	Skeletal muscle atrophy
OMIM:612300	CD59	966	HP:0003690	Limb muscle weakness
OMIM:616117	TNNI3K	51086	HP:0004749	Atrial flutter
OMIM:616117	TNNI3K	51086	HP:0011711	Left anterior fascicular block
OMIM:616117	TNNI3K	51086	HP:0001644	Dilated cardiomyopathy
OMIM:616117	TNNI3K	51086	HP:0005110	Atrial fibrillation
OMIM:616117	TNNI3K	51086	HP:0001692	Primary atrial arrhythmia
OMIM:616117	TNNI3K	51086	HP:0000006	Autosomal dominant inheritance
OMIM:612674	ABHD12	26090	HP:0001260	Dysarthria
OMIM:612674	ABHD12	26090	HP:0001271	Polyneuropathy
OMIM:612674	ABHD12	26090	HP:0001310	Dysmetria
OMIM:612674	ABHD12	26090	HP:0000523	Subcapsular cataract
OMIM:612674	ABHD12	26090	HP:0000407	Sensorineural hearing impairment
OMIM:612674	ABHD12	26090	HP:0001347	Hyperreflexia
OMIM:612674	ABHD12	26090	HP:0001771	Achilles tendon contracture
OMIM:612674	ABHD12	26090	HP:0007141	Sensorimotor neuropathy
OMIM:612674	ABHD12	26090	HP:0001761	Pes cavus
OMIM:612674	ABHD12	26090	HP:0002936	Distal sensory impairment
OMIM:612674	ABHD12	26090	HP:0000762	Decreased nerve conduction velocity
OMIM:612674	ABHD12	26090	HP:0003677	Slow progression
OMIM:612674	ABHD12	26090	HP:0003674	Onset
OMIM:612674	ABHD12	26090	HP:0001257	Spasticity
OMIM:612674	ABHD12	26090	HP:0001272	Cerebellar atrophy
OMIM:612674	ABHD12	26090	HP:0003487	Babinski sign
OMIM:612674	ABHD12	26090	HP:0002080	Intention tremor
OMIM:612674	ABHD12	26090	HP:0003812	Phenotypic variability
OMIM:612674	ABHD12	26090	HP:0000510	Rod-cone dystrophy
OMIM:612674	ABHD12	26090	HP:0001265	Hyporeflexia
OMIM:612674	ABHD12	26090	HP:0000007	Autosomal recessive inheritance
OMIM:612674	ABHD12	26090	HP:0000648	Optic atrophy
OMIM:612674	ABHD12	26090	HP:0003693	Distal amyotrophy
OMIM:612674	ABHD12	26090	HP:0000639	Nystagmus
OMIM:615807	DNA2	1763	HP:0000252	Microcephaly
OMIM:615807	DNA2	1763	HP:0000007	Autosomal recessive inheritance
OMIM:615807	DNA2	1763	HP:0002751	Kyphoscoliosis
OMIM:615807	DNA2	1763	HP:0004322	Short stature
OMIM:615807	DNA2	1763	HP:0000444	Convex nasal ridge
OMIM:615807	DNA2	1763	HP:0000086	Ectopic kidney
OMIM:615807	DNA2	1763	HP:0000347	Micrognathia
OMIM:615807	DNA2	1763	HP:0001263	Global developmental delay
OMIM:615807	DNA2	1763	HP:0001249	Intellectual disability
OMIM:615807	DNA2	1763	HP:0002176	Spinal cord compression
ORPHA:79107	ACTB	60	HP:0000202	Oral cleft
ORPHA:79107	ACTB	60	HP:0002015	Dysphagia
ORPHA:79107	ACTB	60	HP:0002808	Kyphosis
ORPHA:79107	ACTB	60	HP:0000518	Cataract
ORPHA:79107	ACTB	60	HP:0002983	Micromelia
ORPHA:79107	ACTB	60	HP:0000316	Hypertelorism
ORPHA:79107	ACTB	60	HP:0008796	Externally rotated hips
ORPHA:79107	ACTB	60	HP:0000618	Blindness
ORPHA:79107	ACTB	60	HP:0007325	Generalized dystonia
ORPHA:79107	ACTB	60	HP:0002650	Scoliosis
ORPHA:79107	ACTB	60	HP:0000882	Hypoplastic scapulae
ORPHA:79107	ACTB	60	HP:0100613	Death in early adulthood
ORPHA:79107	ACTB	60	HP:0001268	Mental deterioration
ORPHA:79107	ACTB	60	HP:0000158	Macroglossia
ORPHA:79107	ACTB	60	HP:0001249	Intellectual disability
ORPHA:79107	ACTB	60	HP:0001263	Global developmental delay
ORPHA:79107	ACTB	60	HP:0000348	High forehead
ORPHA:79107	ACTB	60	HP:0002721	Immunodeficiency
ORPHA:79107	ACTB	60	HP:0004322	Short stature
ORPHA:79107	ACTB	60	HP:0000407	Sensorineural hearing impairment
ORPHA:79107	ACTB	60	HP:0002571	Achalasia
ORPHA:439218	KCNQ2	3785	HP:0001041	Facial erythema
ORPHA:439218	KCNQ2	3785	HP:0010818	Generalized tonic seizures
ORPHA:439218	KCNQ2	3785	HP:0007015	Poor gross motor coordination
ORPHA:439218	KCNQ2	3785	HP:0001332	Dystonia
ORPHA:439218	KCNQ2	3785	HP:0010851	EEG with burst suppression
ORPHA:439218	KCNQ2	3785	HP:0002453	Abnormality of the globus pallidus
ORPHA:439218	KCNQ2	3785	HP:0001252	Muscular hypotonia
ORPHA:439218	KCNQ2	3785	HP:0000980	Pallor
ORPHA:439218	KCNQ2	3785	HP:0011097	Epileptic spasms
ORPHA:439218	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
ORPHA:439218	KCNQ2	3785	HP:0002104	Apnea
ORPHA:439218	KCNQ2	3785	HP:0011968	Feeding difficulties
ORPHA:439218	KCNQ2	3785	HP:0002540	Inability to walk
ORPHA:439218	KCNQ2	3785	HP:0002181	Cerebral edema
ORPHA:439218	KCNQ2	3785	HP:0012736	Profound global developmental delay
ORPHA:439218	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:617214	PLCZ1	89869	HP:0000007	Autosomal recessive inheritance
OMIM:617214	PLCZ1	89869	HP:0000789	Infertility
OMIM:274800	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:274800	IYD	389434	HP:0000821	Hypothyroidism
OMIM:274800	IYD	389434	HP:0000853	Goiter
OMIM:274800	IYD	389434	HP:0001249	Intellectual disability
OMIM:274800	IYD	389434	HP:0001510	Growth delay
OMIM:201475	ACADVL	37	HP:0001397	Hepatic steatosis
OMIM:201475	ACADVL	37	HP:0000007	Autosomal recessive inheritance
OMIM:201475	ACADVL	37	HP:0003552	Muscle stiffness
OMIM:201475	ACADVL	37	HP:0001645	Sudden cardiac death
OMIM:201475	ACADVL	37	HP:0008305	Exercise-induced myoglobinuria
OMIM:201475	ACADVL	37	HP:0009045	Exercise-induced rhabdomyolysis
OMIM:201475	ACADVL	37	HP:0002013	Vomiting
OMIM:201475	ACADVL	37	HP:0003236	Elevated serum creatine phosphokinase
OMIM:201475	ACADVL	37	HP:0001404	Hepatocellular necrosis
OMIM:201475	ACADVL	37	HP:0003234	Decreased plasma carnitine
OMIM:201475	ACADVL	37	HP:0001324	Muscle weakness
OMIM:201475	ACADVL	37	HP:0002789	Tachypnea
OMIM:201475	ACADVL	37	HP:0003738	Exercise-induced myalgia
OMIM:201475	ACADVL	37	HP:0003215	Dicarboxylic aciduria
OMIM:201475	ACADVL	37	HP:0001290	Generalized hypotonia
OMIM:201475	ACADVL	37	HP:0001958	Nonketotic hypoglycemia
OMIM:201475	ACADVL	37	HP:0001254	Lethargy
OMIM:201475	ACADVL	37	HP:0001639	Hypertrophic cardiomyopathy
OMIM:201475	ACADVL	37	HP:0002240	Hepatomegaly
OMIM:265120	SFTPB	6439	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:265120	SFTPB	6439	HP:0002098	Respiratory distress
OMIM:265120	SFTPB	6439	HP:0003678	Rapidly progressive
OMIM:265120	SFTPB	6439	HP:0000007	Autosomal recessive inheritance
OMIM:265120	SFTPB	6439	HP:0000961	Cyanosis
OMIM:265120	SFTPB	6439	HP:0006530	Interstitial pulmonary abnormality
OMIM:265120	SFTPB	6439	HP:0002104	Apnea
OMIM:265120	SFTPB	6439	HP:0002789	Tachypnea
OMIM:265120	SFTPB	6439	HP:0002092	Pulmonary arterial hypertension
OMIM:265120	SFTPB	6439	HP:0002094	Dyspnea
OMIM:265120	SFTPB	6439	HP:0003593	Infantile onset
OMIM:265120	SFTPB	6439	HP:0001508	Failure to thrive
OMIM:265120	SFTPB	6439	HP:0001217	Clubbing
OMIM:265120	SFTPB	6439	HP:0006517	Alveolar proteinosis
OMIM:265120	SFTPB	6439	HP:0002878	Respiratory failure
OMIM:265120	SFTPB	6439	HP:0001425	Heterogeneous
OMIM:265120	SFTPB	6439	HP:0005942	Desquamative interstitial pneumonitis
OMIM:132450	COL2A1	1280	HP:0030329	Retinal thinning
OMIM:132450	COL2A1	1280	HP:0009803	Short phalanx of finger
OMIM:132450	COL2A1	1280	HP:0000405	Conductive hearing impairment
OMIM:132450	COL2A1	1280	HP:0030672	Asteroid hyalosis
OMIM:132450	COL2A1	1280	HP:0002656	Epiphyseal dysplasia
OMIM:132450	COL2A1	1280	HP:0000518	Cataract
OMIM:132450	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:132450	COL2A1	1280	HP:0002673	Coxa valga
OMIM:132450	COL2A1	1280	HP:0001156	Brachydactyly
OMIM:132450	COL2A1	1280	HP:0000160	Narrow mouth
OMIM:132450	COL2A1	1280	HP:0000545	Myopia
OMIM:132450	COL2A1	1280	HP:0004322	Short stature
OMIM:132450	COL2A1	1280	HP:0000311	Round face
OMIM:132450	COL2A1	1280	HP:0002857	Genu valgum
OMIM:132450	COL2A1	1280	HP:0012368	Flat face
OMIM:205400	ABCA1	19	HP:0000007	Autosomal recessive inheritance
OMIM:205400	ABCA1	19	HP:0000505	Visual impairment
OMIM:205400	ABCA1	19	HP:0001712	Left ventricular hypertrophy
OMIM:205400	ABCA1	19	HP:0010829	Impaired temperature sensation
OMIM:205400	ABCA1	19	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:205400	ABCA1	19	HP:0002164	Nail dysplasia
OMIM:205400	ABCA1	19	HP:0003693	Distal amyotrophy
OMIM:205400	ABCA1	19	HP:0001265	Hyporeflexia
OMIM:205400	ABCA1	19	HP:0007328	Impaired pain sensation
OMIM:205400	ABCA1	19	HP:0002240	Hepatomegaly
OMIM:205400	ABCA1	19	HP:0011096	Peripheral demyelination
OMIM:205400	ABCA1	19	HP:0007759	Opacification of the corneal stroma
OMIM:205400	ABCA1	19	HP:0008404	Nail dystrophy
OMIM:205400	ABCA1	19	HP:0001658	Myocardial infarction
OMIM:205400	ABCA1	19	HP:0001349	Facial diplegia
OMIM:205400	ABCA1	19	HP:0003477	Peripheral axonal neuropathy
OMIM:205400	ABCA1	19	HP:0000656	Ectropion
OMIM:205400	ABCA1	19	HP:0001744	Splenomegaly
OMIM:205400	ABCA1	19	HP:0000958	Dry skin
OMIM:123700	ELN	2006	HP:0001582	Redundant skin
OMIM:123700	ELN	2006	HP:0001425	Heterogeneous
OMIM:123700	ELN	2006	HP:0000023	Inguinal hernia
OMIM:123700	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:123700	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:123700	ELN	2006	HP:0007495	Prematurely aged appearance
OMIM:123700	ELN	2006	HP:0000271	Abnormality of the face
OMIM:123700	ELN	2006	HP:0002097	Emphysema
OMIM:123700	ELN	2006	HP:0001659	Aortic regurgitation
OMIM:312170	PDHA1	5160	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
OMIM:312170	PDHA1	5160	HP:0003593	Infantile onset
OMIM:312170	PDHA1	5160	HP:0000496	Abnormality of eye movement
OMIM:312170	PDHA1	5160	HP:0002490	Increased CSF lactate
OMIM:312170	PDHA1	5160	HP:0001266	Choreoathetosis
OMIM:312170	PDHA1	5160	HP:0004925	Chronic lactic acidosis
OMIM:312170	PDHA1	5160	HP:0000508	Ptosis
OMIM:312170	PDHA1	5160	HP:0003812	Phenotypic variability
OMIM:312170	PDHA1	5160	HP:0001290	Generalized hypotonia
OMIM:312170	PDHA1	5160	HP:0004900	Severe lactic acidosis
OMIM:312170	PDHA1	5160	HP:0001263	Global developmental delay
OMIM:312170	PDHA1	5160	HP:0000463	Anteverted nares
OMIM:312170	PDHA1	5160	HP:0003348	Hyperalaninemia
OMIM:312170	PDHA1	5160	HP:0000454	Flared nostrils
OMIM:312170	PDHA1	5160	HP:0002119	Ventriculomegaly
OMIM:312170	PDHA1	5160	HP:0001249	Intellectual disability
OMIM:312170	PDHA1	5160	HP:0001274	Agenesis of corpus callosum
OMIM:312170	PDHA1	5160	HP:0000431	Wide nasal bridge
OMIM:312170	PDHA1	5160	HP:0001423	X-linked dominant inheritance
OMIM:312170	PDHA1	5160	HP:0001518	Small for gestational age
OMIM:312170	PDHA1	5160	HP:0000343	Long philtrum
OMIM:312170	PDHA1	5160	HP:0002007	Frontal bossing
OMIM:312170	PDHA1	5160	HP:0002151	Increased serum lactate
OMIM:312170	PDHA1	5160	HP:0001254	Lethargy
OMIM:312170	PDHA1	5160	HP:0002059	Cerebral atrophy
OMIM:312170	PDHA1	5160	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
OMIM:312170	PDHA1	5160	HP:0002131	Episodic ataxia
OMIM:312170	PDHA1	5160	HP:0000252	Microcephaly
OMIM:312170	PDHA1	5160	HP:0001250	Seizures
OMIM:312170	PDHA1	5160	HP:0001332	Dystonia
OMIM:312170	PDHA1	5160	HP:0006799	Basal ganglia cysts
ORPHA:221061	PDCD10	11235	HP:0012748	Focal T2 hyperintense brainstem lesion
ORPHA:221061	PDCD10	11235	HP:0001250	Seizures
ORPHA:221061	PDCD10	11235	HP:0030430	Neuroma
ORPHA:221061	PDCD10	11235	HP:0002650	Scoliosis
ORPHA:221061	PDCD10	11235	HP:0002858	Meningioma
ORPHA:221061	PDCD10	11235	HP:0002315	Headache
ORPHA:221061	PDCD10	11235	HP:0012749	Focal T2 hypointense brainstem lesion
ORPHA:221061	PDCD10	11235	HP:0001342	Cerebral hemorrhage
ORPHA:221061	PDCD10	11235	HP:0002516	Increased intracranial pressure
ORPHA:221061	CCM2	83605	HP:0012748	Focal T2 hyperintense brainstem lesion
ORPHA:221061	CCM2	83605	HP:0001250	Seizures
ORPHA:221061	CCM2	83605	HP:0030430	Neuroma
ORPHA:221061	CCM2	83605	HP:0002650	Scoliosis
ORPHA:221061	CCM2	83605	HP:0002858	Meningioma
ORPHA:221061	CCM2	83605	HP:0002315	Headache
ORPHA:221061	CCM2	83605	HP:0012749	Focal T2 hypointense brainstem lesion
ORPHA:221061	CCM2	83605	HP:0001342	Cerebral hemorrhage
ORPHA:221061	CCM2	83605	HP:0002516	Increased intracranial pressure
ORPHA:221061	KRIT1	889	HP:0012748	Focal T2 hyperintense brainstem lesion
ORPHA:221061	KRIT1	889	HP:0001250	Seizures
ORPHA:221061	KRIT1	889	HP:0030430	Neuroma
ORPHA:221061	KRIT1	889	HP:0002650	Scoliosis
ORPHA:221061	KRIT1	889	HP:0002858	Meningioma
ORPHA:221061	KRIT1	889	HP:0002315	Headache
ORPHA:221061	KRIT1	889	HP:0012749	Focal T2 hypointense brainstem lesion
ORPHA:221061	KRIT1	889	HP:0001342	Cerebral hemorrhage
ORPHA:221061	KRIT1	889	HP:0002516	Increased intracranial pressure
OMIM:189500	MSX1	4487	HP:0001792	Small nail
OMIM:189500	MSX1	4487	HP:0006349	Agenesis of permanent teeth
OMIM:189500	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:189500	MSX1	4487	HP:0008070	Sparse hair
OMIM:189500	MSX1	4487	HP:0006347	Microdontia of primary teeth
OMIM:189500	MSX1	4487	HP:0001598	Concave nail
OMIM:189500	MSX1	4487	HP:0001807	Ridged nail
OMIM:189500	MSX1	4487	HP:0001803	Nail pits
OMIM:189500	MSX1	4487	HP:0002213	Fine hair
OMIM:124480	ATP6V1B2	526	HP:0000407	Sensorineural hearing impairment
OMIM:124480	ATP6V1B2	526	HP:0003812	Phenotypic variability
OMIM:124480	ATP6V1B2	526	HP:0007529	Hidrotic ectodermal dysplasia
OMIM:124480	ATP6V1B2	526	HP:0001156	Brachydactyly
OMIM:124480	ATP6V1B2	526	HP:0001770	Toe syndactyly
OMIM:124480	ATP6V1B2	526	HP:0001792	Small nail
OMIM:124480	ATP6V1B2	526	HP:0000006	Autosomal dominant inheritance
OMIM:124480	ATP6V1B2	526	HP:0003577	Congenital onset
OMIM:124480	ATP6V1B2	526	HP:0001798	Anonychia
OMIM:124480	ATP6V1B2	526	HP:0008404	Nail dystrophy
OMIM:312000	SOX3	6658	HP:0000871	Panhypopituitarism
OMIM:312000	SOX3	6658	HP:0001417	X-linked inheritance
OMIM:312000	SOX3	6658	HP:0000839	Pituitary dwarfism
OMIM:601553	CDH3	1001	HP:0000007	Autosomal recessive inheritance
OMIM:601553	CDH3	1001	HP:0000164	Abnormality of the dentition
OMIM:601553	CDH3	1001	HP:0000548	Cone/cone-rod dystrophy
OMIM:601553	CDH3	1001	HP:0001597	Abnormality of the nail
OMIM:601553	CDH3	1001	HP:0007754	Macular dystrophy
OMIM:601553	CDH3	1001	HP:0000618	Blindness
OMIM:601553	CDH3	1001	HP:0003777	Pili torti
OMIM:601553	CDH3	1001	HP:0001006	Hypotrichosis
OMIM:601553	CDH3	1001	HP:0007663	Reduced visual acuity
OMIM:238700	AASS	10157	HP:0001083	Ectopia lentis
OMIM:238700	AASS	10157	HP:0001250	Seizures
OMIM:238700	AASS	10157	HP:0002161	Hyperlysinemia
OMIM:238700	AASS	10157	HP:0000752	Hyperactivity
OMIM:238700	AASS	10157	HP:0000736	Short attention span
OMIM:238700	AASS	10157	HP:0100543	Cognitive impairment
OMIM:238700	AASS	10157	HP:0001252	Muscular hypotonia
OMIM:238700	AASS	10157	HP:0001249	Intellectual disability
OMIM:238700	AASS	10157	HP:0001256	Intellectual disability, mild
OMIM:238700	AASS	10157	HP:0000007	Autosomal recessive inheritance
OMIM:238700	AASS	10157	HP:0003593	Infantile onset
OMIM:238700	AASS	10157	HP:0000119	Abnormality of the genitourinary system
OMIM:238700	AASS	10157	HP:0001903	Anemia
OMIM:238700	AASS	10157	HP:0003812	Phenotypic variability
OMIM:238700	AASS	10157	HP:0000750	Delayed speech and language development
ORPHA:91130	SLC25A3	5250	HP:0003198	Myopathy
ORPHA:91130	SLC25A3	5250	HP:0001942	Metabolic acidosis
ORPHA:91130	SLC25A3	5250	HP:0001252	Muscular hypotonia
ORPHA:91130	SLC25A3	5250	HP:0000961	Cyanosis
ORPHA:91130	SLC25A3	5250	HP:0003128	Lactic acidosis
ORPHA:91130	SLC25A3	5250	HP:0001508	Failure to thrive
ORPHA:91130	SLC25A3	5250	HP:0002151	Increased serum lactate
ORPHA:91130	SLC25A3	5250	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:91130	SLC25A3	5250	HP:0009805	Low-output congestive heart failure
ORPHA:91130	SLC25A3	5250	HP:0012103	Abnormality of the mitochondrion
OMIM:602588	EYA1	2138	HP:0000278	Retrognathia
OMIM:602588	EYA1	2138	HP:0004467	Preauricular pit
OMIM:602588	EYA1	2138	HP:0009795	Branchial fistula
OMIM:602588	EYA1	2138	HP:0008551	Microtia
OMIM:602588	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:602588	EYA1	2138	HP:0003828	Variable expressivity
OMIM:602588	EYA1	2138	HP:0003829	Incomplete penetrance
OMIM:602588	EYA1	2138	HP:0008554	Cochlear malformation
OMIM:602588	EYA1	2138	HP:0000378	Cupped ear
OMIM:602588	EYA1	2138	HP:0000369	Low-set ears
OMIM:602588	EYA1	2138	HP:0008586	Hypoplasia of the cochlea
OMIM:602588	EYA1	2138	HP:0000410	Mixed hearing impairment
OMIM:602588	EYA1	2138	HP:0004458	Dilatated internal auditory canal
OMIM:174800	GNAS	2778	HP:0001442	Somatic mosaicism
OMIM:174800	GNAS	2778	HP:0005605	Large cafe-au-lait macules with irregular margins
OMIM:174800	GNAS	2778	HP:0002756	Pathologic fracture
OMIM:174800	GNAS	2778	HP:0010735	Polyostotic fibrous dysplasia
OMIM:174800	GNAS	2778	HP:0003118	Increased circulating cortisol level
OMIM:174800	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:174800	GNAS	2778	HP:0000843	Hyperparathyroidism
OMIM:174800	GNAS	2778	HP:0004493	Craniofacial hyperostosis
OMIM:174800	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:174800	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:174800	GNAS	2778	HP:0000618	Blindness
OMIM:174800	GNAS	2778	HP:0000870	Prolactin excess
OMIM:174800	GNAS	2778	HP:0000365	Hearing impairment
OMIM:174800	GNAS	2778	HP:0000324	Facial asymmetry
OMIM:174800	GNAS	2778	HP:0200008	Intestinal polyposis
OMIM:174800	GNAS	2778	HP:0000826	Precocious puberty
OMIM:174800	GNAS	2778	HP:0000836	Hyperthyroidism
OMIM:256370	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:256370	WT1	7490	HP:0001967	Diffuse mesangial sclerosis
OMIM:256370	WT1	7490	HP:0011463	Childhood onset
OMIM:256370	WT1	7490	HP:0003676	Progressive
OMIM:256370	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:256370	WT1	7490	HP:0000007	Autosomal recessive inheritance
OMIM:256370	WT1	7490	HP:0000083	Renal insufficiency
OMIM:256370	WT1	7490	HP:0002667	Nephroblastoma
OMIM:600501	EDNRB	1910	HP:0007894	Hypopigmentation of the fundus
OMIM:600501	EDNRB	1910	HP:0000365	Hearing impairment
OMIM:600501	EDNRB	1910	HP:0001520	Large for gestational age
OMIM:600501	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:600501	EDNRB	1910	HP:0001022	Albinism
OMIM:600501	EDNRB	1910	HP:0006958	Abnormal auditory evoked potentials
OMIM:600501	EDNRB	1910	HP:0000007	Autosomal recessive inheritance
OMIM:604369	SLC17A5	26503	HP:0000007	Autosomal recessive inheritance
OMIM:604369	SLC17A5	26503	HP:0000639	Nystagmus
OMIM:604369	SLC17A5	26503	HP:0001250	Seizures
OMIM:604369	SLC17A5	26503	HP:0001922	Vacuolated lymphocytes
OMIM:604369	SLC17A5	26503	HP:0000577	Exotropia
OMIM:604369	SLC17A5	26503	HP:0001510	Growth delay
OMIM:604369	SLC17A5	26503	HP:0001263	Global developmental delay
OMIM:604369	SLC17A5	26503	HP:0002684	Thickened calvaria
OMIM:604369	SLC17A5	26503	HP:0000750	Delayed speech and language development
OMIM:604369	SLC17A5	26503	HP:0002540	Inability to walk
OMIM:604369	SLC17A5	26503	HP:0001249	Intellectual disability
OMIM:604369	SLC17A5	26503	HP:0001257	Spasticity
OMIM:604369	SLC17A5	26503	HP:0002305	Athetosis
OMIM:604369	SLC17A5	26503	HP:0001290	Generalized hypotonia
OMIM:604369	SLC17A5	26503	HP:0001251	Ataxia
OMIM:604369	SLC17A5	26503	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:604369	SLC17A5	26503	HP:0001260	Dysarthria
OMIM:611134	CEP290	80184	HP:0001631	Atrial septal defect
OMIM:611134	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:611134	CEP290	80184	HP:0002084	Encephalocele
OMIM:611134	CEP290	80184	HP:0000107	Renal cyst
OMIM:611134	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:611134	CEP290	80184	HP:0001629	Ventricular septal defect
OMIM:611134	CEP290	80184	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:611134	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:611134	CEP290	80184	HP:0001511	Intrauterine growth retardation
OMIM:256540	CTSA	5476	HP:0000280	Coarse facial features
OMIM:256540	CTSA	5476	HP:0000365	Hearing impairment
OMIM:256540	CTSA	5476	HP:0007759	Opacification of the corneal stroma
OMIM:256540	CTSA	5476	HP:0001250	Seizures
OMIM:256540	CTSA	5476	HP:0000943	Dysostosis multiplex
OMIM:256540	CTSA	5476	HP:0010729	Cherry red spot of the macula
OMIM:256540	CTSA	5476	HP:0000007	Autosomal recessive inheritance
OMIM:256540	CTSA	5476	HP:0001028	Hemangioma
OMIM:256540	CTSA	5476	HP:0008166	Decreased beta-galactosidase activity
OMIM:256540	CTSA	5476	HP:0001249	Intellectual disability
OMIM:256540	CTSA	5476	HP:0003510	Severe short stature
OMIM:256540	CTSA	5476	HP:0000524	Conjunctival telangiectasia
OMIM:137245	BCL10	8915	HP:0045038	Gastric lymphoma
OMIM:300987	EIF2S3	1968	HP:0000718	Aggressive behavior
OMIM:300987	EIF2S3	1968	HP:0000824	Growth hormone deficiency
OMIM:300987	EIF2S3	1968	HP:0003487	Babinski sign
OMIM:300987	EIF2S3	1968	HP:0002465	Poor speech
OMIM:300987	EIF2S3	1968	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300987	EIF2S3	1968	HP:0002119	Ventriculomegaly
OMIM:300987	EIF2S3	1968	HP:0001943	Hypoglycemia
OMIM:300987	EIF2S3	1968	HP:0410030	Cleft lip
OMIM:300987	EIF2S3	1968	HP:0002307	Drooling
OMIM:300987	EIF2S3	1968	HP:0000823	Delayed puberty
OMIM:300987	EIF2S3	1968	HP:0001263	Global developmental delay
OMIM:300987	EIF2S3	1968	HP:0400000	Tall chin
OMIM:300987	EIF2S3	1968	HP:0001285	Spastic tetraparesis
OMIM:300987	EIF2S3	1968	HP:0001419	X-linked recessive inheritance
OMIM:300987	EIF2S3	1968	HP:0000175	Cleft palate
OMIM:300987	EIF2S3	1968	HP:0001249	Intellectual disability
OMIM:300987	EIF2S3	1968	HP:0000252	Microcephaly
OMIM:300987	EIF2S3	1968	HP:0000545	Myopia
OMIM:300987	EIF2S3	1968	HP:0002355	Difficulty walking
OMIM:300987	EIF2S3	1968	HP:0000276	Long face
OMIM:300987	EIF2S3	1968	HP:0000437	Depressed nasal tip
OMIM:300987	EIF2S3	1968	HP:0004322	Short stature
OMIM:300987	EIF2S3	1968	HP:0001290	Generalized hypotonia
OMIM:300987	EIF2S3	1968	HP:0002540	Inability to walk
OMIM:300987	EIF2S3	1968	HP:0000486	Strabismus
OMIM:300987	EIF2S3	1968	HP:0002066	Gait ataxia
OMIM:300987	EIF2S3	1968	HP:0000135	Hypogonadism
OMIM:300987	EIF2S3	1968	HP:0000455	Broad nasal tip
OMIM:300987	EIF2S3	1968	HP:0000750	Delayed speech and language development
OMIM:300987	EIF2S3	1968	HP:0000343	Long philtrum
OMIM:300987	EIF2S3	1968	HP:0000687	Widely spaced teeth
OMIM:300987	EIF2S3	1968	HP:0001347	Hyperreflexia
OMIM:300987	EIF2S3	1968	HP:0000400	Macrotia
OMIM:300987	EIF2S3	1968	HP:0000054	Micropenis
OMIM:300987	EIF2S3	1968	HP:0000194	Open mouth
OMIM:300987	EIF2S3	1968	HP:0003828	Variable expressivity
OMIM:615987	BBS10	79738	HP:0000083	Renal insufficiency
OMIM:615987	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615987	BBS10	79738	HP:0000007	Autosomal recessive inheritance
OMIM:615987	BBS10	79738	HP:0010442	Polydactyly
OMIM:615987	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615987	BBS10	79738	HP:0001513	Obesity
OMIM:615987	BBS10	79738	HP:0000107	Renal cyst
OMIM:615987	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615616	CTNNA3	29119	HP:0004756	Ventricular tachycardia
OMIM:615616	CTNNA3	29119	HP:0000006	Autosomal dominant inheritance
OMIM:615616	CTNNA3	29119	HP:0011710	Bundle branch block
OMIM:606353	ALS2	57679	HP:0002064	Spastic gait
OMIM:606353	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:606353	ALS2	57679	HP:0002015	Dysphagia
OMIM:606353	ALS2	57679	HP:0002491	Spasticity of facial muscles
OMIM:606353	ALS2	57679	HP:0003621	Juvenile onset
OMIM:606353	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:606353	ALS2	57679	HP:0000183	Difficulty in tongue movements
OMIM:606353	ALS2	57679	HP:0003677	Slow progression
OMIM:606353	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606353	ALS2	57679	HP:0011463	Childhood onset
OMIM:606353	ALS2	57679	HP:0001285	Spastic tetraparesis
OMIM:606353	ALS2	57679	HP:0002120	Cerebral cortical atrophy
OMIM:606353	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:606353	ALS2	57679	HP:0003487	Babinski sign
OMIM:606353	ALS2	57679	HP:0001152	Saccadic smooth pursuit
OMIM:606353	ALS2	57679	HP:0002464	Spastic dysarthria
OMIM:606353	ALS2	57679	HP:0002501	Spasticity of pharyngeal muscles
OMIM:601162	ALDH18A1	5832	HP:0001328	Specific learning disability
OMIM:601162	ALDH18A1	5832	HP:0002061	Lower limb spasticity
OMIM:601162	ALDH18A1	5832	HP:0003677	Slow progression
OMIM:601162	ALDH18A1	5832	HP:0002013	Vomiting
OMIM:601162	ALDH18A1	5832	HP:0002036	Hiatus hernia
OMIM:601162	ALDH18A1	5832	HP:0002127	Abnormal upper motor neuron morphology
OMIM:601162	ALDH18A1	5832	HP:0004322	Short stature
OMIM:601162	ALDH18A1	5832	HP:0001761	Pes cavus
OMIM:601162	ALDH18A1	5832	HP:0003700	Generalized amyotrophy
OMIM:601162	ALDH18A1	5832	HP:0000006	Autosomal dominant inheritance
OMIM:601162	ALDH18A1	5832	HP:0001258	Spastic paraplegia
OMIM:601162	ALDH18A1	5832	HP:0007178	Motor polyneuropathy
OMIM:601162	ALDH18A1	5832	HP:0001288	Gait disturbance
OMIM:601162	ALDH18A1	5832	HP:0007340	Lower limb muscle weakness
OMIM:601162	ALDH18A1	5832	HP:0000518	Cataract
OMIM:601162	ALDH18A1	5832	HP:0007299	Dysfunction of lateral corticospinal tracts
OMIM:601162	ALDH18A1	5832	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:601162	ALDH18A1	5832	HP:0003487	Babinski sign
OMIM:601162	ALDH18A1	5832	HP:0003743	Genetic anticipation
OMIM:601162	ALDH18A1	5832	HP:0001260	Dysarthria
OMIM:601162	ALDH18A1	5832	HP:0001498	Carpal bone hypoplasia
OMIM:601162	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:601162	ALDH18A1	5832	HP:0002020	Gastroesophageal reflux
OMIM:601162	ALDH18A1	5832	HP:0002750	Delayed skeletal maturation
OMIM:617169	APC2	10297	HP:0000276	Long face
OMIM:617169	APC2	10297	HP:0004482	Relative macrocephaly
OMIM:617169	APC2	10297	HP:0002465	Poor speech
OMIM:617169	APC2	10297	HP:0000303	Mandibular prognathia
OMIM:617169	APC2	10297	HP:0000752	Hyperactivity
OMIM:617169	APC2	10297	HP:0000448	Prominent nose
OMIM:617169	APC2	10297	HP:0001249	Intellectual disability
OMIM:617169	APC2	10297	HP:0000007	Autosomal recessive inheritance
OMIM:614493	WIPF1	7456	HP:0002719	Recurrent infections
OMIM:614493	WIPF1	7456	HP:0001873	Thrombocytopenia
OMIM:614493	WIPF1	7456	HP:0005415	Decreased number of CD8+ T cells
OMIM:614493	WIPF1	7456	HP:0012178	Reduced natural killer cell activity
OMIM:614493	WIPF1	7456	HP:0000964	Eczema
OMIM:614493	WIPF1	7456	HP:0000007	Autosomal recessive inheritance
OMIM:616277	ECHS1	1892	HP:0001332	Dystonia
OMIM:616277	ECHS1	1892	HP:0002151	Increased serum lactate
OMIM:616277	ECHS1	1892	HP:0000639	Nystagmus
OMIM:616277	ECHS1	1892	HP:0001257	Spasticity
OMIM:616277	ECHS1	1892	HP:0000007	Autosomal recessive inheritance
OMIM:616277	ECHS1	1892	HP:0001290	Generalized hypotonia
OMIM:616277	ECHS1	1892	HP:0002104	Apnea
OMIM:616277	ECHS1	1892	HP:0002490	Increased CSF lactate
OMIM:616277	ECHS1	1892	HP:0001263	Global developmental delay
OMIM:259050	ZBTB20	26137	HP:0001761	Pes cavus
OMIM:259050	ZBTB20	26137	HP:0000248	Brachycephaly
OMIM:259050	ZBTB20	26137	HP:0002209	Sparse scalp hair
OMIM:259050	ZBTB20	26137	HP:0000179	Thick lower lip vermilion
OMIM:259050	ZBTB20	26137	HP:0003745	Sporadic
OMIM:259050	ZBTB20	26137	HP:0005121	Posterior scalloping of vertebral bodies
OMIM:259050	ZBTB20	26137	HP:0000365	Hearing impairment
OMIM:259050	ZBTB20	26137	HP:0005103	Calcification of the auricular cartilage
OMIM:259050	ZBTB20	26137	HP:0000490	Deeply set eye
OMIM:259050	ZBTB20	26137	HP:0002079	Hypoplasia of the corpus callosum
OMIM:259050	ZBTB20	26137	HP:0006380	Knee flexion contracture
OMIM:259050	ZBTB20	26137	HP:0040160	Generalized osteoporosis
OMIM:259050	ZBTB20	26137	HP:0000256	Macrocephaly
OMIM:259050	ZBTB20	26137	HP:0003693	Distal amyotrophy
OMIM:259050	ZBTB20	26137	HP:0000494	Downslanted palpebral fissures
OMIM:259050	ZBTB20	26137	HP:0040309	Increased size of the mandible
OMIM:259050	ZBTB20	26137	HP:0000160	Narrow mouth
OMIM:259050	ZBTB20	26137	HP:0000774	Narrow chest
OMIM:259050	ZBTB20	26137	HP:0001956	Truncal obesity
OMIM:259050	ZBTB20	26137	HP:0000508	Ptosis
OMIM:259050	ZBTB20	26137	HP:0000272	Malar flattening
OMIM:259050	ZBTB20	26137	HP:0002550	Absent facial hair
OMIM:259050	ZBTB20	26137	HP:0000006	Autosomal dominant inheritance
OMIM:259050	ZBTB20	26137	HP:0002221	Absent axillary hair
OMIM:259050	ZBTB20	26137	HP:0000400	Macrotia
OMIM:259050	ZBTB20	26137	HP:0004322	Short stature
OMIM:259050	ZBTB20	26137	HP:0009882	Short distal phalanx of finger
OMIM:259050	ZBTB20	26137	HP:0000771	Gynecomastia
OMIM:259050	ZBTB20	26137	HP:0000327	Hypoplasia of the maxilla
OMIM:259050	ZBTB20	26137	HP:0000337	Broad forehead
OMIM:259050	ZBTB20	26137	HP:0001290	Generalized hypotonia
OMIM:259050	ZBTB20	26137	HP:0008541	Superiorly displaced ears
OMIM:259050	ZBTB20	26137	HP:0001840	Metatarsus adductus
OMIM:259050	ZBTB20	26137	HP:0002808	Kyphosis
OMIM:259050	ZBTB20	26137	HP:0005758	Basilar impression
OMIM:259050	ZBTB20	26137	HP:0000664	Synophrys
OMIM:259050	ZBTB20	26137	HP:0001115	Posterior polar cataract
OMIM:259050	ZBTB20	26137	HP:0001249	Intellectual disability
OMIM:259050	ZBTB20	26137	HP:0002857	Genu valgum
OMIM:259050	ZBTB20	26137	HP:0011800	Midface retrusion
OMIM:259050	ZBTB20	26137	HP:0002180	Neurodegeneration
OMIM:259050	ZBTB20	26137	HP:0000767	Pectus excavatum
OMIM:259050	ZBTB20	26137	HP:0002714	Downturned corners of mouth
OMIM:259050	ZBTB20	26137	HP:0003273	Hip contracture
OMIM:259050	ZBTB20	26137	HP:0002868	Narrow iliac wings
OMIM:259050	ZBTB20	26137	HP:0003301	Irregular vertebral endplates
OMIM:148820	PAX3	5077	HP:0002216	Premature graying of hair
OMIM:148820	PAX3	5077	HP:0003691	Scapular winging
OMIM:148820	PAX3	5077	HP:0000426	Prominent nasal bridge
OMIM:148820	PAX3	5077	HP:0001053	Hypopigmented skin patches
OMIM:148820	PAX3	5077	HP:0000635	Blue irides
OMIM:148820	PAX3	5077	HP:0000506	Telecanthus
OMIM:148820	PAX3	5077	HP:0009702	Carpal synostosis
OMIM:148820	PAX3	5077	HP:0030084	Clinodactyly
OMIM:148820	PAX3	5077	HP:0001249	Intellectual disability
OMIM:148820	PAX3	5077	HP:0001258	Spastic paraplegia
OMIM:148820	PAX3	5077	HP:0002251	Aganglionic megacolon
OMIM:148820	PAX3	5077	HP:0000303	Mandibular prognathia
OMIM:148820	PAX3	5077	HP:0003828	Variable expressivity
OMIM:148820	PAX3	5077	HP:0100490	Camptodactyly of finger
OMIM:148820	PAX3	5077	HP:0000007	Autosomal recessive inheritance
OMIM:148820	PAX3	5077	HP:0002211	White forelock
OMIM:148820	PAX3	5077	HP:0000407	Sensorineural hearing impairment
OMIM:148820	PAX3	5077	HP:0001156	Brachydactyly
OMIM:148820	PAX3	5077	HP:0001452	Autosomal dominant contiguous gene syndrome
OMIM:148820	PAX3	5077	HP:0010554	Cutaneous finger syndactyly
OMIM:148820	PAX3	5077	HP:0007443	Partial albinism
OMIM:148820	PAX3	5077	HP:0001100	Heterochromia iridis
OMIM:148820	PAX3	5077	HP:0000581	Blepharophimosis
OMIM:148820	PAX3	5077	HP:0000664	Synophrys
OMIM:148820	PAX3	5077	HP:0000252	Microcephaly
OMIM:148820	PAX3	5077	HP:0000431	Wide nasal bridge
OMIM:615351	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:615351	GMPPB	29925	HP:0001276	Hypertonia
OMIM:615351	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615351	GMPPB	29925	HP:0002058	Myopathic facies
OMIM:615351	GMPPB	29925	HP:0003828	Variable expressivity
OMIM:615351	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:615351	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615351	GMPPB	29925	HP:0009055	Generalized limb muscle atrophy
OMIM:615351	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:615351	GMPPB	29925	HP:0002421	Poor head control
OMIM:615351	GMPPB	29925	HP:0001344	Absent speech
OMIM:615351	GMPPB	29925	HP:0011968	Feeding difficulties
OMIM:615351	GMPPB	29925	HP:0001290	Generalized hypotonia
OMIM:615351	GMPPB	29925	HP:0001558	Decreased fetal movement
OMIM:234500	SLC6A19	340024	HP:0000712	Emotional lability
OMIM:234500	SLC6A19	340024	HP:0001250	Seizures
OMIM:234500	SLC6A19	340024	HP:0001263	Global developmental delay
OMIM:234500	SLC6A19	340024	HP:0001276	Hypertonia
OMIM:234500	SLC6A19	340024	HP:0001347	Hyperreflexia
OMIM:234500	SLC6A19	340024	HP:0000709	Psychosis
OMIM:234500	SLC6A19	340024	HP:0000007	Autosomal recessive inheritance
OMIM:234500	SLC6A19	340024	HP:0002131	Episodic ataxia
OMIM:234500	SLC6A19	340024	HP:0000992	Cutaneous photosensitivity
OMIM:234500	SLC6A19	340024	HP:0008353	Neutral hyperaminoaciduria
OMIM:607084	WHRN	25861	HP:0000007	Autosomal recessive inheritance
OMIM:607084	WHRN	25861	HP:0000407	Sensorineural hearing impairment
OMIM:141200	COL4A3	1285	HP:0012577	Thin glomerular basement membrane
OMIM:141200	COL4A3	1285	HP:0000006	Autosomal dominant inheritance
OMIM:141200	COL4A3	1285	HP:0000790	Hematuria
OMIM:141200	COL4A3	1285	HP:0003680	Nonprogressive
OMIM:613853	CFC1	55997	HP:0000006	Autosomal dominant inheritance
OMIM:613853	CFC1	55997	HP:0002021	Pyloric stenosis
OMIM:613853	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:613853	CFC1	55997	HP:0001719	Double outlet right ventricle
OMIM:617044	TKT	7086	HP:0001629	Ventricular septal defect
OMIM:617044	TKT	7086	HP:0001643	Patent ductus arteriosus
OMIM:617044	TKT	7086	HP:0000007	Autosomal recessive inheritance
OMIM:617044	TKT	7086	HP:0003508	Proportionate short stature
OMIM:617044	TKT	7086	HP:0000733	Stereotypy
OMIM:617044	TKT	7086	HP:0100716	Self-injurious behavior
OMIM:617044	TKT	7086	HP:0001655	Patent foramen ovale
OMIM:617044	TKT	7086	HP:0001249	Intellectual disability
OMIM:614373	SIGMAR1	10280	HP:0001257	Spasticity
OMIM:614373	SIGMAR1	10280	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614373	SIGMAR1	10280	HP:0003677	Slow progression
OMIM:614373	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:614373	SIGMAR1	10280	HP:0002127	Abnormal upper motor neuron morphology
OMIM:614373	SIGMAR1	10280	HP:0001347	Hyperreflexia
OMIM:614373	SIGMAR1	10280	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:1529	PAX3	5077	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:1529	PAX3	5077	HP:0003049	Ulnar deviation of the wrist
ORPHA:1529	PAX3	5077	HP:0000407	Sensorineural hearing impairment
ORPHA:1529	PAX3	5077	HP:0000316	Hypertelorism
ORPHA:1529	PAX3	5077	HP:0009465	Ulnar deviation of finger
ORPHA:1529	PAX3	5077	HP:0000457	Depressed nasal ridge
ORPHA:1529	PAX3	5077	HP:0000494	Downslanted palpebral fissures
ORPHA:1529	PAX3	5077	HP:0000581	Blepharophimosis
ORPHA:1529	PAX3	5077	HP:0100490	Camptodactyly of finger
ORPHA:1529	PAX3	5077	HP:0000160	Narrow mouth
ORPHA:1529	PAX3	5077	HP:0003196	Short nose
ORPHA:1529	PAX3	5077	HP:0000327	Hypoplasia of the maxilla
ORPHA:1529	PAX3	5077	HP:0000275	Narrow face
ORPHA:1529	PAX3	5077	HP:0000564	Lacrimal duct atresia
ORPHA:1529	PAX3	5077	HP:0005280	Depressed nasal bridge
ORPHA:1529	PAX3	5077	HP:0012368	Flat face
OMIM:615398	PIGT	51604	HP:0001321	Cerebellar hypoplasia
OMIM:615398	PIGT	51604	HP:0000938	Osteopenia
OMIM:615398	PIGT	51604	HP:0000486	Strabismus
OMIM:615398	PIGT	51604	HP:0000071	Ureteral stenosis
OMIM:615398	PIGT	51604	HP:0001250	Seizures
OMIM:615398	PIGT	51604	HP:0002353	EEG abnormality
OMIM:615398	PIGT	51604	HP:0003593	Infantile onset
OMIM:615398	PIGT	51604	HP:0000341	Narrow forehead
OMIM:615398	PIGT	51604	HP:0000164	Abnormality of the dentition
OMIM:615398	PIGT	51604	HP:0000767	Pectus excavatum
OMIM:615398	PIGT	51604	HP:0001520	Large for gestational age
OMIM:615398	PIGT	51604	HP:0001263	Global developmental delay
OMIM:615398	PIGT	51604	HP:0000348	High forehead
OMIM:615398	PIGT	51604	HP:0000218	High palate
OMIM:615398	PIGT	51604	HP:0002059	Cerebral atrophy
OMIM:615398	PIGT	51604	HP:0002750	Delayed skeletal maturation
OMIM:615398	PIGT	51604	HP:0002650	Scoliosis
OMIM:615398	PIGT	51604	HP:0000121	Nephrocalcinosis
OMIM:615398	PIGT	51604	HP:0001290	Generalized hypotonia
OMIM:615398	PIGT	51604	HP:0001723	Restrictive cardiomyopathy
OMIM:615398	PIGT	51604	HP:0000107	Renal cyst
OMIM:615398	PIGT	51604	HP:0002714	Downturned corners of mouth
OMIM:615398	PIGT	51604	HP:0002150	Hypercalciuria
OMIM:615398	PIGT	51604	HP:0000007	Autosomal recessive inheritance
OMIM:615398	PIGT	51604	HP:0003022	Hypoplasia of the ulna
OMIM:615398	PIGT	51604	HP:0005280	Depressed nasal bridge
OMIM:615398	PIGT	51604	HP:0000248	Brachycephaly
OMIM:615398	PIGT	51604	HP:0000540	Hypermetropia
OMIM:615398	PIGT	51604	HP:0000505	Visual impairment
OMIM:615398	PIGT	51604	HP:0000256	Macrocephaly
OMIM:615398	PIGT	51604	HP:0003186	Inverted nipples
OMIM:615398	PIGT	51604	HP:0000939	Osteoporosis
OMIM:615398	PIGT	51604	HP:0001643	Patent ductus arteriosus
OMIM:615398	PIGT	51604	HP:0000343	Long philtrum
OMIM:615398	PIGT	51604	HP:0000639	Nystagmus
OMIM:615398	PIGT	51604	HP:0002002	Deep philtrum
OMIM:615398	PIGT	51604	HP:0000194	Open mouth
OMIM:612940	PYCR1	5831	HP:0000238	Hydrocephalus
OMIM:612940	PYCR1	5831	HP:0001263	Global developmental delay
OMIM:612940	PYCR1	5831	HP:0002650	Scoliosis
OMIM:612940	PYCR1	5831	HP:0000252	Microcephaly
OMIM:612940	PYCR1	5831	HP:0000411	Protruding ear
OMIM:612940	PYCR1	5831	HP:0000592	Blue sclerae
OMIM:612940	PYCR1	5831	HP:0011800	Midface retrusion
OMIM:612940	PYCR1	5831	HP:0000325	Triangular face
OMIM:612940	PYCR1	5831	HP:0001374	Congenital hip dislocation
OMIM:612940	PYCR1	5831	HP:0001508	Failure to thrive
OMIM:612940	PYCR1	5831	HP:0000316	Hypertelorism
OMIM:612940	PYCR1	5831	HP:0001382	Joint hypermobility
OMIM:612940	PYCR1	5831	HP:0002020	Gastroesophageal reflux
OMIM:612940	PYCR1	5831	HP:0001274	Agenesis of corpus callosum
OMIM:612940	PYCR1	5831	HP:0000938	Osteopenia
OMIM:612940	PYCR1	5831	HP:0000490	Deeply set eye
OMIM:612940	PYCR1	5831	HP:0001582	Redundant skin
OMIM:612940	PYCR1	5831	HP:0000418	Narrow nasal ridge
OMIM:612940	PYCR1	5831	HP:0001511	Intrauterine growth retardation
OMIM:612940	PYCR1	5831	HP:0000272	Malar flattening
OMIM:612940	PYCR1	5831	HP:0002007	Frontal bossing
OMIM:612940	PYCR1	5831	HP:0000007	Autosomal recessive inheritance
OMIM:612940	PYCR1	5831	HP:0000494	Downslanted palpebral fissures
OMIM:612940	PYCR1	5831	HP:0001015	Prominent superficial veins
OMIM:612940	PYCR1	5831	HP:0006487	Bowing of the long bones
OMIM:612940	PYCR1	5831	HP:0000337	Broad forehead
OMIM:612940	PYCR1	5831	HP:0000239	Large fontanelles
OMIM:612940	PYCR1	5831	HP:0011220	Prominent forehead
OMIM:614338	PNLIP	5406	HP:0000007	Autosomal recessive inheritance
OMIM:614338	PNLIP	5406	HP:0002570	Steatorrhea
OMIM:608594	AGPAT2	10555	HP:0009125	Lipodystrophy
OMIM:608594	AGPAT2	10555	HP:0005616	Accelerated skeletal maturation
OMIM:608594	AGPAT2	10555	HP:0002910	Elevated hepatic transaminases
OMIM:608594	AGPAT2	10555	HP:0003809	Reduced intrathoracic adipose tissue
OMIM:608594	AGPAT2	10555	HP:0000065	Labial hypertrophy
OMIM:608594	AGPAT2	10555	HP:0000868	Decreased fertility in females
OMIM:608594	AGPAT2	10555	HP:0000325	Triangular face
OMIM:608594	AGPAT2	10555	HP:0000787	Nephrolithiasis
OMIM:608594	AGPAT2	10555	HP:0001735	Acute pancreatitis
OMIM:608594	AGPAT2	10555	HP:0000098	Tall stature
OMIM:608594	AGPAT2	10555	HP:0000400	Macrotia
OMIM:608594	AGPAT2	10555	HP:0002155	Hypertriglyceridemia
OMIM:608594	AGPAT2	10555	HP:0003292	Decreased serum leptin
OMIM:608594	AGPAT2	10555	HP:0000877	Insulin-resistant diabetes mellitus at puberty
OMIM:608594	AGPAT2	10555	HP:0001397	Hepatic steatosis
OMIM:608594	AGPAT2	10555	HP:0001176	Large hands
OMIM:608594	AGPAT2	10555	HP:0001744	Splenomegaly
OMIM:608594	AGPAT2	10555	HP:0002240	Hepatomegaly
OMIM:608594	AGPAT2	10555	HP:0002833	Cystic angiomatosis of bone
OMIM:608594	AGPAT2	10555	HP:0000007	Autosomal recessive inheritance
OMIM:608594	AGPAT2	10555	HP:0001394	Cirrhosis
OMIM:608594	AGPAT2	10555	HP:0000303	Mandibular prognathia
OMIM:608594	AGPAT2	10555	HP:0001007	Hirsutism
OMIM:608594	AGPAT2	10555	HP:0000842	Hyperinsulinemia
OMIM:608594	AGPAT2	10555	HP:0003716	Generalized muscular appearance from birth
OMIM:608594	AGPAT2	10555	HP:0002591	Polyphagia
OMIM:608594	AGPAT2	10555	HP:0000956	Acanthosis nigricans
OMIM:608594	AGPAT2	10555	HP:0000147	Polycystic ovaries
OMIM:608594	AGPAT2	10555	HP:0001425	Heterogeneous
OMIM:608594	AGPAT2	10555	HP:0001544	Prominent umbilicus
OMIM:608594	AGPAT2	10555	HP:0008665	Clitoral hypertrophy
OMIM:608594	AGPAT2	10555	HP:0001833	Long foot
OMIM:608594	AGPAT2	10555	HP:0001537	Umbilical hernia
ORPHA:67046	AUH	549	HP:0000750	Delayed speech and language development
ORPHA:67046	AUH	549	HP:0001263	Global developmental delay
ORPHA:67046	AUH	549	HP:0001508	Failure to thrive
ORPHA:67046	AUH	549	HP:0003535	3-Methylglutaconic aciduria
ORPHA:2970	CHRM3	1131	HP:0000003	Multicystic kidney dysplasia
ORPHA:2970	CHRM3	1131	HP:0000072	Hydroureter
ORPHA:2970	CHRM3	1131	HP:0005199	Aplasia of the abdominal wall musculature
ORPHA:2970	CHRM3	1131	HP:0000772	Abnormality of the ribs
ORPHA:2970	CHRM3	1131	HP:0000083	Renal insufficiency
ORPHA:2970	CHRM3	1131	HP:0000076	Vesicoureteral reflux
ORPHA:2970	CHRM3	1131	HP:0008734	Decreased testicular size
ORPHA:2970	CHRM3	1131	HP:0000010	Recurrent urinary tract infections
ORPHA:2970	CHRM3	1131	HP:0002205	Recurrent respiratory infections
ORPHA:2970	CHRM3	1131	HP:0010957	Congenital posterior urethral valve
ORPHA:2970	CHRM3	1131	HP:0002019	Constipation
ORPHA:2970	CHRM3	1131	HP:0000028	Cryptorchidism
ORPHA:2970	CHRM3	1131	HP:0001562	Oligohydramnios
ORPHA:2970	CHRM3	1131	HP:0000144	Decreased fertility
ORPHA:2970	CHRM3	1131	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:245570	GRIN2A	2903	HP:0003828	Variable expressivity
OMIM:245570	GRIN2A	2903	HP:0003829	Incomplete penetrance
OMIM:245570	GRIN2A	2903	HP:0011098	Speech apraxia
OMIM:245570	GRIN2A	2903	HP:0000006	Autosomal dominant inheritance
OMIM:245570	GRIN2A	2903	HP:0002381	Aphasia
OMIM:245570	GRIN2A	2903	HP:0007018	Attention deficit hyperactivity disorder
OMIM:245570	GRIN2A	2903	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:245570	GRIN2A	2903	HP:0002357	Dysphasia
OMIM:245570	GRIN2A	2903	HP:0000750	Delayed speech and language development
OMIM:245570	GRIN2A	2903	HP:0001250	Seizures
OMIM:245570	GRIN2A	2903	HP:0010524	Agnosia
OMIM:300888	IGSF1	3547	HP:0001419	X-linked recessive inheritance
OMIM:300888	IGSF1	3547	HP:0025502	Overweight
OMIM:300888	IGSF1	3547	HP:0000821	Hypothyroidism
OMIM:615685	ARL6IP1	23204	HP:0003438	Absent Achilles reflex
OMIM:615685	ARL6IP1	23204	HP:0007083	Hyperactive patellar reflex
OMIM:615685	ARL6IP1	23204	HP:0012407	Scissor gait
OMIM:615685	ARL6IP1	23204	HP:0001258	Spastic paraplegia
OMIM:615685	ARL6IP1	23204	HP:0000763	Sensory neuropathy
OMIM:615685	ARL6IP1	23204	HP:0000007	Autosomal recessive inheritance
OMIM:615685	ARL6IP1	23204	HP:0002355	Difficulty walking
OMIM:615685	ARL6IP1	23204	HP:0002540	Inability to walk
ORPHA:166119	LEMD3	23592	HP:0004322	Short stature
ORPHA:166119	LEMD3	23592	HP:0005789	Generalized osteosclerosis
ORPHA:166119	LEMD3	23592	HP:0001482	Subcutaneous nodule
ORPHA:166119	LEMD3	23592	HP:0000086	Ectopic kidney
ORPHA:166119	LEMD3	23592	HP:0000252	Microcephaly
ORPHA:166119	LEMD3	23592	HP:0002652	Skeletal dysplasia
OMIM:614036	A2M	2	HP:0000006	Autosomal dominant inheritance
OMIM:608980	FREM1	158326	HP:0000143	Rectovaginal fistula
OMIM:608980	FREM1	158326	HP:0011803	Bifid nose
OMIM:608980	FREM1	158326	HP:0000007	Autosomal recessive inheritance
OMIM:608980	FREM1	158326	HP:0000322	Short philtrum
OMIM:608980	FREM1	158326	HP:0000077	Abnormality of the kidney
OMIM:608980	FREM1	158326	HP:0001545	Anteriorly placed anus
OMIM:608980	FREM1	158326	HP:0000414	Bulbous nose
OMIM:615278	KRAS	3845	HP:0000358	Posteriorly rotated ears
OMIM:615278	KRAS	3845	HP:0000218	High palate
OMIM:615278	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:615278	KRAS	3845	HP:0001263	Global developmental delay
OMIM:615278	KRAS	3845	HP:0002223	Absent eyebrow
OMIM:615278	KRAS	3845	HP:0000545	Myopia
OMIM:615278	KRAS	3845	HP:0000508	Ptosis
OMIM:615278	KRAS	3845	HP:0003477	Peripheral axonal neuropathy
OMIM:615278	KRAS	3845	HP:0008070	Sparse hair
OMIM:615278	KRAS	3845	HP:0000369	Low-set ears
OMIM:615278	KRAS	3845	HP:0002213	Fine hair
OMIM:615278	KRAS	3845	HP:0000280	Coarse facial features
OMIM:615278	KRAS	3845	HP:0001634	Mitral valve prolapse
OMIM:615278	KRAS	3845	HP:0000463	Anteverted nares
OMIM:615278	KRAS	3845	HP:0000337	Broad forehead
OMIM:615278	KRAS	3845	HP:0002212	Curly hair
OMIM:609452	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:609452	LDB3	11155	HP:0003736	Autophagic vacuoles
OMIM:609452	LDB3	11155	HP:0003458	EMG: myopathic abnormalities
OMIM:609452	LDB3	11155	HP:0003555	Muscle fiber splitting
OMIM:609452	LDB3	11155	HP:0002600	Hyporeflexia of lower limbs
OMIM:609452	LDB3	11155	HP:0003445	EMG: neuropathic changes
OMIM:609452	LDB3	11155	HP:0001638	Cardiomyopathy
OMIM:609452	LDB3	11155	HP:0003715	Myofibrillar myopathy
OMIM:609452	LDB3	11155	HP:0009063	Progressive distal muscle weakness
OMIM:609452	LDB3	11155	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609452	LDB3	11155	HP:0003584	Late onset
OMIM:609452	LDB3	11155	HP:0001271	Polyneuropathy
OMIM:609452	LDB3	11155	HP:0009073	Progressive proximal muscle weakness
ORPHA:217266	FREM1	158326	HP:0011803	Bifid nose
ORPHA:217266	FREM1	158326	HP:0001545	Anteriorly placed anus
ORPHA:217266	FREM1	158326	HP:0000200	Short lingual frenulum
ORPHA:217266	FREM1	158326	HP:0000104	Renal agenesis
ORPHA:217266	FREM1	158326	HP:0002025	Anal stenosis
ORPHA:217266	FREM1	158326	HP:0010322	Abnormality of the 5th toe
OMIM:610600	CYP11B2	1585	HP:0000848	Increased circulating renin level
OMIM:610600	CYP11B2	1585	HP:0002153	Hyperkalemia
OMIM:610600	CYP11B2	1585	HP:0001944	Dehydration
OMIM:610600	CYP11B2	1585	HP:0000127	Renal salt wasting
OMIM:610600	CYP11B2	1585	HP:0001508	Failure to thrive
OMIM:610600	CYP11B2	1585	HP:0001510	Growth delay
OMIM:610600	CYP11B2	1585	HP:0003623	Neonatal onset
OMIM:610600	CYP11B2	1585	HP:0001278	Orthostatic hypotension
OMIM:610600	CYP11B2	1585	HP:0004319	Decreased circulating aldosterone level
OMIM:610600	CYP11B2	1585	HP:0000007	Autosomal recessive inheritance
OMIM:610600	CYP11B2	1585	HP:0002902	Hyponatremia
OMIM:115430	TTR	7276	HP:0012276	Digital flexor tenosynovitis
OMIM:115430	TTR	7276	HP:0008326	Vitamin B6 deficiency
OMIM:115430	TTR	7276	HP:0000006	Autosomal dominant inheritance
OMIM:115430	TTR	7276	HP:0009830	Peripheral neuropathy
OMIM:115430	TTR	7276	HP:0012185	Constrictive median neuropathy
OMIM:604625	PAX9	5083	HP:0000677	Oligodontia
OMIM:604625	PAX9	5083	HP:0000006	Autosomal dominant inheritance
OMIM:600971	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TMIE	259236	HP:0000365	Hearing impairment
OMIM:612961	FGF9	2254	HP:0009701	Metacarpal synostosis
OMIM:612961	FGF9	2254	HP:0000006	Autosomal dominant inheritance
OMIM:612961	FGF9	2254	HP:0003041	Humeroradial synostosis
OMIM:612961	FGF9	2254	HP:0002967	Cubitus valgus
OMIM:612961	FGF9	2254	HP:0001440	Metatarsal synostosis
OMIM:612961	FGF9	2254	HP:0006064	Limited interphalangeal movement
OMIM:614458	TPK1	27010	HP:0001332	Dystonia
OMIM:614458	TPK1	27010	HP:0002321	Vertigo
OMIM:614458	TPK1	27010	HP:0003812	Phenotypic variability
OMIM:614458	TPK1	27010	HP:0001290	Generalized hypotonia
OMIM:614458	TPK1	27010	HP:0001251	Ataxia
OMIM:614458	TPK1	27010	HP:0003128	Lactic acidosis
OMIM:614458	TPK1	27010	HP:0001257	Spasticity
OMIM:614458	TPK1	27010	HP:0000007	Autosomal recessive inheritance
OMIM:602875	NPR2	4882	HP:0004568	Beaking of vertebral bodies
OMIM:602875	NPR2	4882	HP:0009803	Short phalanx of finger
OMIM:602875	NPR2	4882	HP:0003498	Disproportionate short stature
OMIM:602875	NPR2	4882	HP:0010049	Short metacarpal
OMIM:602875	NPR2	4882	HP:0010743	Short metatarsal
OMIM:602875	NPR2	4882	HP:0001831	Short toe
OMIM:602875	NPR2	4882	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:602875	NPR2	4882	HP:0001847	Long hallux
OMIM:602875	NPR2	4882	HP:0003196	Short nose
OMIM:602875	NPR2	4882	HP:0007516	Redundant skin on fingers
OMIM:602875	NPR2	4882	HP:0001783	Broad metatarsal
OMIM:602875	NPR2	4882	HP:0002986	Radial bowing
OMIM:602875	NPR2	4882	HP:0002984	Hypoplasia of the radius
OMIM:602875	NPR2	4882	HP:0002007	Frontal bossing
OMIM:602875	NPR2	4882	HP:0005619	Thoracolumbar kyphosis
OMIM:602875	NPR2	4882	HP:0003300	Ovoid vertebral bodies
OMIM:602875	NPR2	4882	HP:0008484	Thoracolumbar interpediculate narrowness
OMIM:602875	NPR2	4882	HP:0000007	Autosomal recessive inheritance
OMIM:602875	NPR2	4882	HP:0001799	Short nail
OMIM:602875	NPR2	4882	HP:0003015	Flared metaphysis
OMIM:602875	NPR2	4882	HP:0003086	Acromesomelia
OMIM:602875	NPR2	4882	HP:0011220	Prominent forehead
OMIM:602875	NPR2	4882	HP:0001377	Limited elbow extension
OMIM:602875	NPR2	4882	HP:0001500	Broad finger
OMIM:602875	NPR2	4882	HP:0002938	Lumbar hyperlordosis
OMIM:602875	NPR2	4882	HP:0004633	Lower thoracic kyphosis
OMIM:602875	NPR2	4882	HP:0001388	Joint laxity
OMIM:602875	NPR2	4882	HP:0001230	Broad metacarpals
OMIM:602875	NPR2	4882	HP:0006009	Broad phalanx
OMIM:614437	EFEMP2	30008	HP:0004927	Pulmonary artery dilatation
OMIM:614437	EFEMP2	30008	HP:0000007	Autosomal recessive inheritance
OMIM:614437	EFEMP2	30008	HP:0000347	Micrognathia
OMIM:614437	EFEMP2	30008	HP:0005116	Arterial tortuosity
OMIM:614437	EFEMP2	30008	HP:0004937	Pulmonary artery aneurysm
OMIM:614437	EFEMP2	30008	HP:0004942	Aortic aneurysm
OMIM:614437	EFEMP2	30008	HP:0000377	Abnormality of the pinna
OMIM:614437	EFEMP2	30008	HP:0000023	Inguinal hernia
OMIM:614437	EFEMP2	30008	HP:0001290	Generalized hypotonia
OMIM:614437	EFEMP2	30008	HP:0001724	Aortic dilatation
OMIM:614437	EFEMP2	30008	HP:0010444	Pulmonary insufficiency
OMIM:614437	EFEMP2	30008	HP:0010759	Prominence of the premaxilla
OMIM:614437	EFEMP2	30008	HP:0000252	Microcephaly
OMIM:614437	EFEMP2	30008	HP:0001166	Arachnodactyly
OMIM:614437	EFEMP2	30008	HP:0004955	Generalized arterial tortuosity
OMIM:614437	EFEMP2	30008	HP:0000414	Bulbous nose
OMIM:614437	EFEMP2	30008	HP:0000776	Congenital diaphragmatic hernia
OMIM:614437	EFEMP2	30008	HP:0001382	Joint hypermobility
OMIM:614437	EFEMP2	30008	HP:0000977	Soft skin
OMIM:614437	EFEMP2	30008	HP:0002097	Emphysema
OMIM:614437	EFEMP2	30008	HP:0000520	Proptosis
OMIM:614437	EFEMP2	30008	HP:0000369	Low-set ears
OMIM:614437	EFEMP2	30008	HP:0045025	Narrow palpebral fissure
OMIM:614437	EFEMP2	30008	HP:0000316	Hypertelorism
OMIM:614437	EFEMP2	30008	HP:0000767	Pectus excavatum
OMIM:614437	EFEMP2	30008	HP:0000218	High palate
OMIM:614437	EFEMP2	30008	HP:0000494	Downslanted palpebral fissures
OMIM:614437	EFEMP2	30008	HP:0000973	Cutis laxa
OMIM:614437	EFEMP2	30008	HP:0011220	Prominent forehead
OMIM:124000	BCS1L	617	HP:0001414	Microvesicular hepatic steatosis
OMIM:124000	BCS1L	617	HP:0030151	Cholangitis
OMIM:124000	BCS1L	617	HP:0006558	Decreased mitochondrial complex III activity in liver tissue
OMIM:124000	BCS1L	617	HP:0001272	Cerebellar atrophy
OMIM:124000	BCS1L	617	HP:0003593	Infantile onset
OMIM:124000	BCS1L	617	HP:0000518	Cataract
OMIM:124000	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:124000	BCS1L	617	HP:0001427	Mitochondrial inheritance
OMIM:124000	BCS1L	617	HP:0000712	Emotional lability
OMIM:124000	BCS1L	617	HP:0001508	Failure to thrive
OMIM:124000	BCS1L	617	HP:0003200	Ragged-red muscle fibers
OMIM:124000	BCS1L	617	HP:0008872	Feeding difficulties in infancy
OMIM:124000	BCS1L	617	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	BCS1L	617	HP:0001943	Hypoglycemia
OMIM:124000	BCS1L	617	HP:0001250	Seizures
OMIM:124000	BCS1L	617	HP:0002910	Elevated hepatic transaminases
OMIM:124000	BCS1L	617	HP:0001249	Intellectual disability
OMIM:124000	BCS1L	617	HP:0002059	Cerebral atrophy
OMIM:124000	BCS1L	617	HP:0003201	Rhabdomyolysis
OMIM:124000	BCS1L	617	HP:0003355	Aminoaciduria
OMIM:124000	BCS1L	617	HP:0003546	Exercise intolerance
OMIM:124000	BCS1L	617	HP:0002353	EEG abnormality
OMIM:124000	BCS1L	617	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	BCS1L	617	HP:0002299	Brittle hair
OMIM:124000	BCS1L	617	HP:0001942	Metabolic acidosis
OMIM:124000	BCS1L	617	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	BCS1L	617	HP:0001324	Muscle weakness
OMIM:124000	BCS1L	617	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	BCS1L	617	HP:0000738	Hallucinations
OMIM:124000	BCS1L	617	HP:0001257	Spasticity
OMIM:124000	BCS1L	617	HP:0001410	Decreased liver function
OMIM:124000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:124000	BCS1L	617	HP:0000510	Rod-cone dystrophy
OMIM:124000	BCS1L	617	HP:0001251	Ataxia
OMIM:124000	BCS1L	617	HP:0001396	Cholestasis
OMIM:124000	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:124000	BCS1L	617	HP:0001263	Global developmental delay
OMIM:124000	BCS1L	617	HP:0001290	Generalized hypotonia
OMIM:124000	BCS1L	617	HP:0000716	Depressivity
OMIM:124000	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:124000	BCS1L	617	HP:0006789	Mitochondrial encephalopathy
OMIM:616208	TUBA4A	7277	HP:0000006	Autosomal dominant inheritance
ORPHA:85295	HSD17B10	3028	HP:0100022	Abnormality of movement
ORPHA:85295	HSD17B10	3028	HP:0001249	Intellectual disability
ORPHA:85295	HSD17B10	3028	HP:0000708	Behavioral abnormality
OMIM:200700	GDF5	8200	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:200700	GDF5	8200	HP:0003826	Stillbirth
OMIM:200700	GDF5	8200	HP:0008873	Disproportionate short-limb short stature
OMIM:200700	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:200700	GDF5	8200	HP:0009803	Short phalanx of finger
OMIM:200700	GDF5	8200	HP:0001371	Flexion contracture
OMIM:200700	GDF5	8200	HP:0011927	Short digit
OMIM:200700	GDF5	8200	HP:0003097	Short femur
OMIM:200700	GDF5	8200	HP:0002984	Hypoplasia of the radius
OMIM:200700	GDF5	8200	HP:0005736	Short tibia
OMIM:200700	GDF5	8200	HP:0001773	Short foot
OMIM:200700	GDF5	8200	HP:0001162	Postaxial hand polydactyly
OMIM:200700	GDF5	8200	HP:0008081	Pes valgus
OMIM:200700	GDF5	8200	HP:0005792	Short humerus
OMIM:200700	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:200700	GDF5	8200	HP:0003022	Hypoplasia of the ulna
OMIM:200700	GDF5	8200	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:200700	GDF5	8200	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:200700	GDF5	8200	HP:0001522	Death in infancy
OMIM:200700	GDF5	8200	HP:0003086	Acromesomelia
OMIM:200700	GDF5	8200	HP:0006228	Valgus hand deformity
ORPHA:75857	ERMARD	55780	HP:0000540	Hypermetropia
ORPHA:75857	ERMARD	55780	HP:0000294	Low anterior hairline
ORPHA:75857	ERMARD	55780	HP:0001388	Joint laxity
ORPHA:75857	ERMARD	55780	HP:0001263	Global developmental delay
ORPHA:75857	ERMARD	55780	HP:0000347	Micrognathia
ORPHA:75857	ERMARD	55780	HP:0001256	Intellectual disability, mild
ORPHA:75857	ERMARD	55780	HP:0000750	Delayed speech and language development
ORPHA:75857	ERMARD	55780	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:75857	ERMARD	55780	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:75857	ERMARD	55780	HP:0030048	Colpocephaly
ORPHA:75857	ERMARD	55780	HP:0001321	Cerebellar hypoplasia
ORPHA:75857	ERMARD	55780	HP:0002705	High, narrow palate
ORPHA:75857	ERMARD	55780	HP:0002066	Gait ataxia
ORPHA:75857	ERMARD	55780	HP:0012471	Thick vermilion border
ORPHA:75857	ERMARD	55780	HP:0000639	Nystagmus
ORPHA:75857	ERMARD	55780	HP:0001310	Dysmetria
ORPHA:75857	ERMARD	55780	HP:0000316	Hypertelorism
ORPHA:75857	ERMARD	55780	HP:0001999	Abnormal facial shape
ORPHA:75857	ERMARD	55780	HP:0002521	Hypsarrhythmia
ORPHA:75857	ERMARD	55780	HP:0007165	Periventricular gray matter heterotopia
ORPHA:75857	ERMARD	55780	HP:0000486	Strabismus
ORPHA:75857	ERMARD	55780	HP:0002126	Polymicrogyria
ORPHA:75857	ERMARD	55780	HP:0001250	Seizures
ORPHA:75857	ERMARD	55780	HP:0001508	Failure to thrive
ORPHA:75857	ERMARD	55780	HP:0008947	Infantile muscular hypotonia
OMIM:615651	CLCN2	1181	HP:0002070	Limb ataxia
OMIM:615651	CLCN2	1181	HP:0002315	Headache
OMIM:615651	CLCN2	1181	HP:0002352	Leukoencephalopathy
OMIM:615651	CLCN2	1181	HP:0000007	Autosomal recessive inheritance
OMIM:615651	CLCN2	1181	HP:0002066	Gait ataxia
OMIM:615512	TPI1	7167	HP:0001082	Cholecystitis
OMIM:615512	TPI1	7167	HP:0001635	Congestive heart failure
OMIM:615512	TPI1	7167	HP:0003198	Myopathy
OMIM:615512	TPI1	7167	HP:0001265	Hyporeflexia
OMIM:615512	TPI1	7167	HP:0001744	Splenomegaly
OMIM:615512	TPI1	7167	HP:0009830	Peripheral neuropathy
OMIM:615512	TPI1	7167	HP:0004870	Chronic hemolytic anemia
OMIM:615512	TPI1	7167	HP:0001081	Cholelithiasis
OMIM:615512	TPI1	7167	HP:0000007	Autosomal recessive inheritance
OMIM:615512	TPI1	7167	HP:0001332	Dystonia
OMIM:615512	TPI1	7167	HP:0001878	Hemolytic anemia
OMIM:615512	TPI1	7167	HP:0002317	Unsteady gait
OMIM:615512	TPI1	7167	HP:0003323	Progressive muscle weakness
OMIM:615512	TPI1	7167	HP:0003202	Skeletal muscle atrophy
OMIM:615512	TPI1	7167	HP:0002808	Kyphosis
OMIM:615512	TPI1	7167	HP:0000952	Jaundice
OMIM:615512	TPI1	7167	HP:0001290	Generalized hypotonia
OMIM:615512	TPI1	7167	HP:0001895	Normochromic anemia
OMIM:615512	TPI1	7167	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615512	TPI1	7167	HP:0001257	Spasticity
OMIM:615512	TPI1	7167	HP:0001263	Global developmental delay
OMIM:615512	TPI1	7167	HP:0001897	Normocytic anemia
OMIM:615512	TPI1	7167	HP:0001337	Tremor
OMIM:128200	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:128200	PRRT2	112476	HP:0000271	Abnormality of the face
OMIM:128200	PRRT2	112476	HP:0002268	Paroxysmal dystonia
OMIM:128200	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:128200	PRRT2	112476	HP:0002310	Orofacial dyskinesia
OMIM:128200	PRRT2	112476	HP:0007098	Paroxysmal choreoathetosis
OMIM:601518	RNASEL	6041	HP:0012125	Prostate cancer
OMIM:601518	RNASEL	6041	HP:0002664	Neoplasm
OMIM:601518	RNASEL	6041	HP:0000006	Autosomal dominant inheritance
ORPHA:821	SETD2	29072	HP:0000463	Anteverted nares
ORPHA:821	SETD2	29072	HP:0000268	Dolichocephaly
ORPHA:821	SETD2	29072	HP:0001513	Obesity
ORPHA:821	SETD2	29072	HP:0011220	Prominent forehead
ORPHA:821	SETD2	29072	HP:0000256	Macrocephaly
ORPHA:821	SETD2	29072	HP:0006288	Advanced eruption of teeth
ORPHA:821	SETD2	29072	HP:0002119	Ventriculomegaly
ORPHA:821	SETD2	29072	HP:0000826	Precocious puberty
ORPHA:821	SETD2	29072	HP:0002007	Frontal bossing
ORPHA:821	SETD2	29072	HP:0000457	Depressed nasal ridge
ORPHA:821	SETD2	29072	HP:0000218	High palate
ORPHA:821	SETD2	29072	HP:0000405	Conductive hearing impairment
ORPHA:821	SETD2	29072	HP:0000494	Downslanted palpebral fissures
ORPHA:821	SETD2	29072	HP:0001252	Muscular hypotonia
ORPHA:821	SETD2	29072	HP:0000303	Mandibular prognathia
ORPHA:821	SETD2	29072	HP:0001263	Global developmental delay
ORPHA:821	SETD2	29072	HP:0008872	Feeding difficulties in infancy
ORPHA:821	SETD2	29072	HP:0000400	Macrotia
ORPHA:821	SETD2	29072	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:821	SETD2	29072	HP:0010978	Abnormality of immune system physiology
ORPHA:821	SETD2	29072	HP:0000316	Hypertelorism
ORPHA:821	SETD2	29072	HP:0000348	High forehead
ORPHA:821	SETD2	29072	HP:0001249	Intellectual disability
ORPHA:821	SETD2	29072	HP:0000098	Tall stature
ORPHA:821	SETD2	29072	HP:0005616	Accelerated skeletal maturation
ORPHA:821	SETD2	29072	HP:0001943	Hypoglycemia
ORPHA:821	NSD1	64324	HP:0000463	Anteverted nares
ORPHA:821	NSD1	64324	HP:0000268	Dolichocephaly
ORPHA:821	NSD1	64324	HP:0001513	Obesity
ORPHA:821	NSD1	64324	HP:0011220	Prominent forehead
ORPHA:821	NSD1	64324	HP:0000256	Macrocephaly
ORPHA:821	NSD1	64324	HP:0006288	Advanced eruption of teeth
ORPHA:821	NSD1	64324	HP:0002119	Ventriculomegaly
ORPHA:821	NSD1	64324	HP:0000826	Precocious puberty
ORPHA:821	NSD1	64324	HP:0002007	Frontal bossing
ORPHA:821	NSD1	64324	HP:0000457	Depressed nasal ridge
ORPHA:821	NSD1	64324	HP:0000218	High palate
ORPHA:821	NSD1	64324	HP:0000405	Conductive hearing impairment
ORPHA:821	NSD1	64324	HP:0000494	Downslanted palpebral fissures
ORPHA:821	NSD1	64324	HP:0001252	Muscular hypotonia
ORPHA:821	NSD1	64324	HP:0000303	Mandibular prognathia
ORPHA:821	NSD1	64324	HP:0001263	Global developmental delay
ORPHA:821	NSD1	64324	HP:0008872	Feeding difficulties in infancy
ORPHA:821	NSD1	64324	HP:0000400	Macrotia
ORPHA:821	NSD1	64324	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:821	NSD1	64324	HP:0010978	Abnormality of immune system physiology
ORPHA:821	NSD1	64324	HP:0000316	Hypertelorism
ORPHA:821	NSD1	64324	HP:0000348	High forehead
ORPHA:821	NSD1	64324	HP:0001249	Intellectual disability
ORPHA:821	NSD1	64324	HP:0000098	Tall stature
ORPHA:821	NSD1	64324	HP:0005616	Accelerated skeletal maturation
ORPHA:821	NSD1	64324	HP:0001943	Hypoglycemia
ORPHA:821	APC2	10297	HP:0000463	Anteverted nares
ORPHA:821	APC2	10297	HP:0000268	Dolichocephaly
ORPHA:821	APC2	10297	HP:0001513	Obesity
ORPHA:821	APC2	10297	HP:0011220	Prominent forehead
ORPHA:821	APC2	10297	HP:0000256	Macrocephaly
ORPHA:821	APC2	10297	HP:0006288	Advanced eruption of teeth
ORPHA:821	APC2	10297	HP:0002119	Ventriculomegaly
ORPHA:821	APC2	10297	HP:0000826	Precocious puberty
ORPHA:821	APC2	10297	HP:0002007	Frontal bossing
ORPHA:821	APC2	10297	HP:0000457	Depressed nasal ridge
ORPHA:821	APC2	10297	HP:0000218	High palate
ORPHA:821	APC2	10297	HP:0000405	Conductive hearing impairment
ORPHA:821	APC2	10297	HP:0000494	Downslanted palpebral fissures
ORPHA:821	APC2	10297	HP:0001252	Muscular hypotonia
ORPHA:821	APC2	10297	HP:0000303	Mandibular prognathia
ORPHA:821	APC2	10297	HP:0001263	Global developmental delay
ORPHA:821	APC2	10297	HP:0008872	Feeding difficulties in infancy
ORPHA:821	APC2	10297	HP:0000400	Macrotia
ORPHA:821	APC2	10297	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:821	APC2	10297	HP:0010978	Abnormality of immune system physiology
ORPHA:821	APC2	10297	HP:0000316	Hypertelorism
ORPHA:821	APC2	10297	HP:0000348	High forehead
ORPHA:821	APC2	10297	HP:0001249	Intellectual disability
ORPHA:821	APC2	10297	HP:0000098	Tall stature
ORPHA:821	APC2	10297	HP:0005616	Accelerated skeletal maturation
ORPHA:821	APC2	10297	HP:0001943	Hypoglycemia
ORPHA:3250	GDF5	8200	HP:0003070	Elbow ankylosis
ORPHA:3250	GDF5	8200	HP:0100490	Camptodactyly of finger
ORPHA:3250	GDF5	8200	HP:0005048	Synostosis of carpal bones
ORPHA:3250	GDF5	8200	HP:0008368	Tarsal synostosis
ORPHA:3250	GDF5	8200	HP:0005880	Metacarpophalangeal synostosis
ORPHA:3250	GDF5	8200	HP:0000407	Sensorineural hearing impairment
ORPHA:3250	GDF5	8200	HP:0001156	Brachydactyly
ORPHA:3250	GDF5	8200	HP:0003042	Elbow dislocation
ORPHA:3250	GDF5	8200	HP:0100264	Proximal symphalangism
ORPHA:3250	NOG	9241	HP:0003070	Elbow ankylosis
ORPHA:3250	NOG	9241	HP:0100490	Camptodactyly of finger
ORPHA:3250	NOG	9241	HP:0005048	Synostosis of carpal bones
ORPHA:3250	NOG	9241	HP:0008368	Tarsal synostosis
ORPHA:3250	NOG	9241	HP:0005880	Metacarpophalangeal synostosis
ORPHA:3250	NOG	9241	HP:0000407	Sensorineural hearing impairment
ORPHA:3250	NOG	9241	HP:0001156	Brachydactyly
ORPHA:3250	NOG	9241	HP:0003042	Elbow dislocation
ORPHA:3250	NOG	9241	HP:0100264	Proximal symphalangism
ORPHA:3329	BHLHA9	727857	HP:0001171	Split hand
ORPHA:3329	BHLHA9	727857	HP:0001376	Limitation of joint mobility
ORPHA:3329	BHLHA9	727857	HP:0005772	Aplasia/Hypoplasia of the tibia
OMIM:234810	EIF2AK4	440275	HP:0002092	Pulmonary arterial hypertension
OMIM:234810	EIF2AK4	440275	HP:0005954	Pulmonary capillary hemangiomatosis
OMIM:234810	EIF2AK4	440275	HP:0012735	Cough
OMIM:234810	EIF2AK4	440275	HP:0000007	Autosomal recessive inheritance
OMIM:234810	EIF2AK4	440275	HP:0002094	Dyspnea
OMIM:234810	EIF2AK4	440275	HP:0006518	Pulmonary venous occlusion
OMIM:616192	DNAJC3	5611	HP:0100651	Type I diabetes mellitus
OMIM:616192	DNAJC3	5611	HP:0000007	Autosomal recessive inheritance
OMIM:616192	DNAJC3	5611	HP:0000407	Sensorineural hearing impairment
OMIM:616192	DNAJC3	5611	HP:0004322	Short stature
OMIM:616192	DNAJC3	5611	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:616192	DNAJC3	5611	HP:0002059	Cerebral atrophy
OMIM:616192	DNAJC3	5611	HP:0001272	Cerebellar atrophy
OMIM:616192	DNAJC3	5611	HP:0002066	Gait ataxia
ORPHA:79405	LAMC2	3918	HP:0001056	Milia
ORPHA:79405	LAMC2	3918	HP:0008404	Nail dystrophy
ORPHA:79405	LAMC2	3918	HP:0001075	Atrophic scars
ORPHA:79405	LAMC2	3918	HP:0008066	Abnormal blistering of the skin
OMIM:601815	PHGDH	26227	HP:0000519	Congenital cataract
OMIM:601815	PHGDH	26227	HP:0001873	Thrombocytopenia
OMIM:601815	PHGDH	26227	HP:0000639	Nystagmus
OMIM:601815	PHGDH	26227	HP:0001510	Growth delay
OMIM:601815	PHGDH	26227	HP:0008734	Decreased testicular size
OMIM:601815	PHGDH	26227	HP:0002521	Hypsarrhythmia
OMIM:601815	PHGDH	26227	HP:0011451	Congenital microcephaly
OMIM:601815	PHGDH	26227	HP:0001181	Adducted thumb
OMIM:601815	PHGDH	26227	HP:0001250	Seizures
OMIM:601815	PHGDH	26227	HP:0007266	Cerebral dysmyelination
OMIM:601815	PHGDH	26227	HP:0001249	Intellectual disability
OMIM:601815	PHGDH	26227	HP:0001889	Megaloblastic anemia
OMIM:601815	PHGDH	26227	HP:0000007	Autosomal recessive inheritance
OMIM:601815	PHGDH	26227	HP:0002510	Spastic tetraplegia
OMIM:239300	PIGV	55650	HP:0001344	Absent speech
OMIM:239300	PIGV	55650	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PIGV	55650	HP:0001792	Small nail
OMIM:239300	PIGV	55650	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PIGV	55650	HP:0001290	Generalized hypotonia
OMIM:239300	PIGV	55650	HP:0001357	Plagiocephaly
OMIM:239300	PIGV	55650	HP:0000272	Malar flattening
OMIM:239300	PIGV	55650	HP:0000219	Thin upper lip vermilion
OMIM:239300	PIGV	55650	HP:0010864	Intellectual disability, severe
OMIM:239300	PIGV	55650	HP:0000637	Long palpebral fissure
OMIM:239300	PIGV	55650	HP:0010804	Tented upper lip vermilion
OMIM:239300	PIGV	55650	HP:0001182	Tapered finger
OMIM:239300	PIGV	55650	HP:0000303	Mandibular prognathia
OMIM:239300	PIGV	55650	HP:0000322	Short philtrum
OMIM:239300	PIGV	55650	HP:0002553	Highly arched eyebrow
OMIM:239300	PIGV	55650	HP:0000358	Posteriorly rotated ears
OMIM:239300	PIGV	55650	HP:0001090	Large eyes
OMIM:239300	PIGV	55650	HP:0011800	Midface retrusion
OMIM:607944	ACP5	54	HP:0000403	Recurrent otitis media
OMIM:607944	ACP5	54	HP:0004979	Metaphyseal sclerosis
OMIM:607944	ACP5	54	HP:0007526	Hypopigmented skin patches on arms
OMIM:607944	ACP5	54	HP:0003621	Juvenile onset
OMIM:607944	ACP5	54	HP:0000926	Platyspondyly
OMIM:607944	ACP5	54	HP:0002751	Kyphoscoliosis
OMIM:607944	ACP5	54	HP:0002205	Recurrent respiratory infections
OMIM:607944	ACP5	54	HP:0000369	Low-set ears
OMIM:607944	ACP5	54	HP:0003301	Irregular vertebral endplates
OMIM:607944	ACP5	54	HP:0011108	Recurrent sinusitis
OMIM:607944	ACP5	54	HP:0001045	Vitiligo
OMIM:607944	ACP5	54	HP:0004322	Short stature
OMIM:607944	ACP5	54	HP:0005387	Combined immunodeficiency
OMIM:607944	ACP5	54	HP:0002657	Spondylometaphyseal dysplasia
OMIM:607944	ACP5	54	HP:0002091	Restrictive ventilatory defect
OMIM:607944	ACP5	54	HP:0002938	Lumbar hyperlordosis
OMIM:607944	ACP5	54	HP:0002090	Pneumonia
OMIM:607944	ACP5	54	HP:0005403	Decrease in T cell count
OMIM:607944	ACP5	54	HP:0002716	Lymphadenopathy
OMIM:607944	ACP5	54	HP:0000460	Narrow nose
OMIM:607944	ACP5	54	HP:0002478	Progressive spastic quadriplegia
OMIM:607944	ACP5	54	HP:0001264	Spastic diplegia
OMIM:607944	ACP5	54	HP:0001370	Rheumatoid arthritis
OMIM:607944	ACP5	54	HP:0005576	Tubulointerstitial fibrosis
OMIM:607944	ACP5	54	HP:0000006	Autosomal dominant inheritance
OMIM:607944	ACP5	54	HP:0001973	Autoimmune thrombocytopenia
OMIM:607944	ACP5	54	HP:0001034	Hypermelanotic macule
OMIM:607944	ACP5	54	HP:0002958	Immune dysregulation
OMIM:607944	ACP5	54	HP:0000979	Purpura
OMIM:607944	ACP5	54	HP:0000007	Autosomal recessive inheritance
OMIM:607944	ACP5	54	HP:0003025	Metaphyseal irregularity
OMIM:607944	ACP5	54	HP:0000821	Hypothyroidism
OMIM:607944	ACP5	54	HP:0005374	Cellular immunodeficiency
OMIM:604360	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:604360	SPG11	80208	HP:0001260	Dysarthria
OMIM:604360	SPG11	80208	HP:0003487	Babinski sign
OMIM:604360	SPG11	80208	HP:0003581	Adult onset
OMIM:604360	SPG11	80208	HP:0000608	Macular degeneration
OMIM:604360	SPG11	80208	HP:0011449	Knee clonus
OMIM:604360	SPG11	80208	HP:0001268	Mental deterioration
OMIM:604360	SPG11	80208	HP:0002518	Abnormality of the periventricular white matter
OMIM:604360	SPG11	80208	HP:0011448	Ankle clonus
OMIM:604360	SPG11	80208	HP:0007067	Distal peripheral sensory neuropathy
OMIM:604360	SPG11	80208	HP:0002064	Spastic gait
OMIM:604360	SPG11	80208	HP:0001761	Pes cavus
OMIM:604360	SPG11	80208	HP:0000020	Urinary incontinence
OMIM:604360	SPG11	80208	HP:0030051	Tip-toe gait
OMIM:604360	SPG11	80208	HP:0000505	Visual impairment
OMIM:604360	SPG11	80208	HP:0002015	Dysphagia
OMIM:604360	SPG11	80208	HP:0002061	Lower limb spasticity
OMIM:604360	SPG11	80208	HP:0001251	Ataxia
OMIM:604360	SPG11	80208	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:604360	SPG11	80208	HP:0003676	Progressive
OMIM:604360	SPG11	80208	HP:0011463	Childhood onset
OMIM:604360	SPG11	80208	HP:0007340	Lower limb muscle weakness
OMIM:604360	SPG11	80208	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604360	SPG11	80208	HP:0001328	Specific learning disability
OMIM:604360	SPG11	80208	HP:0000546	Retinal degeneration
OMIM:604360	SPG11	80208	HP:0001274	Agenesis of corpus callosum
OMIM:604360	SPG11	80208	HP:0003393	Thenar muscle atrophy
OMIM:604360	SPG11	80208	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604360	SPG11	80208	HP:0007178	Motor polyneuropathy
OMIM:604360	SPG11	80208	HP:0000763	Sensory neuropathy
OMIM:604360	SPG11	80208	HP:0001249	Intellectual disability
OMIM:604360	SPG11	80208	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604360	SPG11	80208	HP:0000012	Urinary urgency
OMIM:604360	SPG11	80208	HP:0001513	Obesity
OMIM:604360	SPG11	80208	HP:0001258	Spastic paraplegia
OMIM:604360	SPG11	80208	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604360	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:604360	SPG11	80208	HP:0000640	Gaze-evoked nystagmus
OMIM:604360	SPG11	80208	HP:0002120	Cerebral cortical atrophy
OMIM:617193	TBCD	6904	HP:0001250	Seizures
OMIM:617193	TBCD	6904	HP:0003828	Variable expressivity
OMIM:617193	TBCD	6904	HP:0005484	Postnatal microcephaly
OMIM:617193	TBCD	6904	HP:0001298	Encephalopathy
OMIM:617193	TBCD	6904	HP:0000297	Facial hypotonia
OMIM:617193	TBCD	6904	HP:0002650	Scoliosis
OMIM:617193	TBCD	6904	HP:0045075	Sparse eyebrow
OMIM:617193	TBCD	6904	HP:0001308	Tongue fasciculations
OMIM:617193	TBCD	6904	HP:0011968	Feeding difficulties
OMIM:617193	TBCD	6904	HP:0007366	Atrophy/Degeneration affecting the brainstem
OMIM:617193	TBCD	6904	HP:0003429	CNS hypomyelination
OMIM:617193	TBCD	6904	HP:0002506	Diffuse cerebral atrophy
OMIM:617193	TBCD	6904	HP:0002804	Arthrogryposis multiplex congenita
OMIM:617193	TBCD	6904	HP:0003202	Skeletal muscle atrophy
OMIM:617193	TBCD	6904	HP:0000347	Micrognathia
OMIM:617193	TBCD	6904	HP:0002119	Ventriculomegaly
OMIM:617193	TBCD	6904	HP:0002171	Gliosis
OMIM:617193	TBCD	6904	HP:0000687	Widely spaced teeth
OMIM:617193	TBCD	6904	HP:0002019	Constipation
OMIM:617193	TBCD	6904	HP:0002510	Spastic tetraplegia
OMIM:617193	TBCD	6904	HP:0002529	Neuronal loss in central nervous system
OMIM:617193	TBCD	6904	HP:0000648	Optic atrophy
OMIM:617193	TBCD	6904	HP:0002376	Developmental regression
OMIM:617193	TBCD	6904	HP:0006829	Severe muscular hypotonia
OMIM:617193	TBCD	6904	HP:0000582	Upslanted palpebral fissure
OMIM:617193	TBCD	6904	HP:0001263	Global developmental delay
OMIM:617193	TBCD	6904	HP:0001249	Intellectual disability
OMIM:617193	TBCD	6904	HP:0000316	Hypertelorism
OMIM:617193	TBCD	6904	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617193	TBCD	6904	HP:0000007	Autosomal recessive inheritance
OMIM:617193	TBCD	6904	HP:0001272	Cerebellar atrophy
OMIM:617193	TBCD	6904	HP:0001324	Muscle weakness
OMIM:615599	TAF2	6873	HP:0000007	Autosomal recessive inheritance
OMIM:615599	TAF2	6873	HP:0005484	Postnatal microcephaly
OMIM:615599	TAF2	6873	HP:0001249	Intellectual disability
OMIM:615599	TAF2	6873	HP:0000252	Microcephaly
OMIM:615599	TAF2	6873	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615599	TAF2	6873	HP:0003487	Babinski sign
OMIM:615599	TAF2	6873	HP:0012448	Delayed myelination
OMIM:615599	TAF2	6873	HP:0001257	Spasticity
OMIM:615599	TAF2	6873	HP:0001347	Hyperreflexia
OMIM:615599	TAF2	6873	HP:0002465	Poor speech
OMIM:615599	TAF2	6873	HP:0001263	Global developmental delay
OMIM:604229	PAX6	5080	HP:0007957	Corneal opacity
OMIM:604229	PAX6	5080	HP:0000659	Peters anomaly
OMIM:604229	PAX6	5080	HP:0000007	Autosomal recessive inheritance
OMIM:604229	PAX6	5080	HP:0001087	Congenital glaucoma
OMIM:604229	CYP1B1	1545	HP:0007957	Corneal opacity
OMIM:604229	CYP1B1	1545	HP:0000659	Peters anomaly
OMIM:604229	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:604229	CYP1B1	1545	HP:0001087	Congenital glaucoma
OMIM:604229	PITX2	5308	HP:0007957	Corneal opacity
OMIM:604229	PITX2	5308	HP:0000659	Peters anomaly
OMIM:604229	PITX2	5308	HP:0000007	Autosomal recessive inheritance
OMIM:604229	PITX2	5308	HP:0001087	Congenital glaucoma
ORPHA:567	COMT	1312	HP:0001256	Intellectual disability, mild
ORPHA:567	COMT	1312	HP:0000276	Long face
ORPHA:567	COMT	1312	HP:0001281	Tetany
ORPHA:567	COMT	1312	HP:0005435	Impaired T cell function
ORPHA:567	COMT	1312	HP:0000175	Cleft palate
ORPHA:567	COMT	1312	HP:0000089	Renal hypoplasia
ORPHA:567	COMT	1312	HP:0001328	Specific learning disability
ORPHA:567	COMT	1312	HP:0000286	Epicanthus
ORPHA:567	COMT	1312	HP:0000272	Malar flattening
ORPHA:567	COMT	1312	HP:0001252	Muscular hypotonia
ORPHA:567	COMT	1312	HP:0000670	Carious teeth
ORPHA:567	COMT	1312	HP:0003326	Myalgia
ORPHA:567	COMT	1312	HP:0004322	Short stature
ORPHA:567	COMT	1312	HP:0011496	Corneal neovascularization
ORPHA:567	COMT	1312	HP:0000389	Chronic otitis media
ORPHA:567	COMT	1312	HP:0000470	Short neck
ORPHA:567	COMT	1312	HP:0001636	Tetralogy of Fallot
ORPHA:567	COMT	1312	HP:0000829	Hypoparathyroidism
ORPHA:567	COMT	1312	HP:0000396	Overfolded helix
ORPHA:567	COMT	1312	HP:0002019	Constipation
ORPHA:567	COMT	1312	HP:0001631	Atrial septal defect
ORPHA:567	COMT	1312	HP:0000627	Posterior embryotoxon
ORPHA:567	COMT	1312	HP:0001611	Nasal speech
ORPHA:567	COMT	1312	HP:0000431	Wide nasal bridge
ORPHA:567	COMT	1312	HP:0000778	Hypoplasia of the thymus
ORPHA:567	COMT	1312	HP:0100765	Abnormality of the tonsils
ORPHA:567	COMT	1312	HP:0001166	Arachnodactyly
ORPHA:567	COMT	1312	HP:0002721	Immunodeficiency
ORPHA:567	COMT	1312	HP:0002901	Hypocalcemia
ORPHA:567	COMT	1312	HP:0007271	Occipital myelomeningocele
ORPHA:567	COMT	1312	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	COMT	1312	HP:0000508	Ptosis
ORPHA:567	COMT	1312	HP:0001061	Acne
ORPHA:567	COMT	1312	HP:0002691	Platybasia
ORPHA:567	COMT	1312	HP:0001263	Global developmental delay
ORPHA:567	COMT	1312	HP:0000506	Telecanthus
ORPHA:567	COMT	1312	HP:0000582	Upslanted palpebral fissure
ORPHA:567	COMT	1312	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	COMT	1312	HP:0002357	Dysphasia
ORPHA:567	COMT	1312	HP:0000405	Conductive hearing impairment
ORPHA:567	COMT	1312	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	COMT	1312	HP:0000414	Bulbous nose
ORPHA:567	COMT	1312	HP:0001660	Truncus arteriosus
ORPHA:567	COMT	1312	HP:0000343	Long philtrum
ORPHA:567	COMT	1312	HP:0000369	Low-set ears
ORPHA:567	COMT	1312	HP:0001629	Ventricular septal defect
ORPHA:567	COMT	1312	HP:0000600	Abnormality of the pharynx
ORPHA:567	COMT	1312	HP:0001051	Seborrheic dermatitis
ORPHA:567	COMT	1312	HP:0000385	Small earlobe
ORPHA:567	COMT	1312	HP:0000426	Prominent nasal bridge
ORPHA:567	SEC24C	9632	HP:0001256	Intellectual disability, mild
ORPHA:567	SEC24C	9632	HP:0000276	Long face
ORPHA:567	SEC24C	9632	HP:0001281	Tetany
ORPHA:567	SEC24C	9632	HP:0005435	Impaired T cell function
ORPHA:567	SEC24C	9632	HP:0000175	Cleft palate
ORPHA:567	SEC24C	9632	HP:0000089	Renal hypoplasia
ORPHA:567	SEC24C	9632	HP:0001328	Specific learning disability
ORPHA:567	SEC24C	9632	HP:0000286	Epicanthus
ORPHA:567	SEC24C	9632	HP:0000272	Malar flattening
ORPHA:567	SEC24C	9632	HP:0001252	Muscular hypotonia
ORPHA:567	SEC24C	9632	HP:0000670	Carious teeth
ORPHA:567	SEC24C	9632	HP:0003326	Myalgia
ORPHA:567	SEC24C	9632	HP:0004322	Short stature
ORPHA:567	SEC24C	9632	HP:0011496	Corneal neovascularization
ORPHA:567	SEC24C	9632	HP:0000389	Chronic otitis media
ORPHA:567	SEC24C	9632	HP:0000470	Short neck
ORPHA:567	SEC24C	9632	HP:0001636	Tetralogy of Fallot
ORPHA:567	SEC24C	9632	HP:0000829	Hypoparathyroidism
ORPHA:567	SEC24C	9632	HP:0000396	Overfolded helix
ORPHA:567	SEC24C	9632	HP:0002019	Constipation
ORPHA:567	SEC24C	9632	HP:0001631	Atrial septal defect
ORPHA:567	SEC24C	9632	HP:0000627	Posterior embryotoxon
ORPHA:567	SEC24C	9632	HP:0001611	Nasal speech
ORPHA:567	SEC24C	9632	HP:0000431	Wide nasal bridge
ORPHA:567	SEC24C	9632	HP:0000778	Hypoplasia of the thymus
ORPHA:567	SEC24C	9632	HP:0100765	Abnormality of the tonsils
ORPHA:567	SEC24C	9632	HP:0001166	Arachnodactyly
ORPHA:567	SEC24C	9632	HP:0002721	Immunodeficiency
ORPHA:567	SEC24C	9632	HP:0002901	Hypocalcemia
ORPHA:567	SEC24C	9632	HP:0007271	Occipital myelomeningocele
ORPHA:567	SEC24C	9632	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	SEC24C	9632	HP:0000508	Ptosis
ORPHA:567	SEC24C	9632	HP:0001061	Acne
ORPHA:567	SEC24C	9632	HP:0002691	Platybasia
ORPHA:567	SEC24C	9632	HP:0001263	Global developmental delay
ORPHA:567	SEC24C	9632	HP:0000506	Telecanthus
ORPHA:567	SEC24C	9632	HP:0000582	Upslanted palpebral fissure
ORPHA:567	SEC24C	9632	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	SEC24C	9632	HP:0002357	Dysphasia
ORPHA:567	SEC24C	9632	HP:0000405	Conductive hearing impairment
ORPHA:567	SEC24C	9632	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	SEC24C	9632	HP:0000414	Bulbous nose
ORPHA:567	SEC24C	9632	HP:0001660	Truncus arteriosus
ORPHA:567	SEC24C	9632	HP:0000343	Long philtrum
ORPHA:567	SEC24C	9632	HP:0000369	Low-set ears
ORPHA:567	SEC24C	9632	HP:0001629	Ventricular septal defect
ORPHA:567	SEC24C	9632	HP:0000600	Abnormality of the pharynx
ORPHA:567	SEC24C	9632	HP:0001051	Seborrheic dermatitis
ORPHA:567	SEC24C	9632	HP:0000385	Small earlobe
ORPHA:567	SEC24C	9632	HP:0000426	Prominent nasal bridge
ORPHA:567	TBX1	6899	HP:0001256	Intellectual disability, mild
ORPHA:567	TBX1	6899	HP:0000276	Long face
ORPHA:567	TBX1	6899	HP:0001281	Tetany
ORPHA:567	TBX1	6899	HP:0005435	Impaired T cell function
ORPHA:567	TBX1	6899	HP:0000175	Cleft palate
ORPHA:567	TBX1	6899	HP:0000089	Renal hypoplasia
ORPHA:567	TBX1	6899	HP:0001328	Specific learning disability
ORPHA:567	TBX1	6899	HP:0000286	Epicanthus
ORPHA:567	TBX1	6899	HP:0000272	Malar flattening
ORPHA:567	TBX1	6899	HP:0001252	Muscular hypotonia
ORPHA:567	TBX1	6899	HP:0000670	Carious teeth
ORPHA:567	TBX1	6899	HP:0003326	Myalgia
ORPHA:567	TBX1	6899	HP:0004322	Short stature
ORPHA:567	TBX1	6899	HP:0011496	Corneal neovascularization
ORPHA:567	TBX1	6899	HP:0000389	Chronic otitis media
ORPHA:567	TBX1	6899	HP:0000470	Short neck
ORPHA:567	TBX1	6899	HP:0001636	Tetralogy of Fallot
ORPHA:567	TBX1	6899	HP:0000829	Hypoparathyroidism
ORPHA:567	TBX1	6899	HP:0000396	Overfolded helix
ORPHA:567	TBX1	6899	HP:0002019	Constipation
ORPHA:567	TBX1	6899	HP:0001631	Atrial septal defect
ORPHA:567	TBX1	6899	HP:0000627	Posterior embryotoxon
ORPHA:567	TBX1	6899	HP:0001611	Nasal speech
ORPHA:567	TBX1	6899	HP:0000431	Wide nasal bridge
ORPHA:567	TBX1	6899	HP:0000778	Hypoplasia of the thymus
ORPHA:567	TBX1	6899	HP:0100765	Abnormality of the tonsils
ORPHA:567	TBX1	6899	HP:0001166	Arachnodactyly
ORPHA:567	TBX1	6899	HP:0002721	Immunodeficiency
ORPHA:567	TBX1	6899	HP:0002901	Hypocalcemia
ORPHA:567	TBX1	6899	HP:0007271	Occipital myelomeningocele
ORPHA:567	TBX1	6899	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	TBX1	6899	HP:0000508	Ptosis
ORPHA:567	TBX1	6899	HP:0001061	Acne
ORPHA:567	TBX1	6899	HP:0002691	Platybasia
ORPHA:567	TBX1	6899	HP:0001263	Global developmental delay
ORPHA:567	TBX1	6899	HP:0000506	Telecanthus
ORPHA:567	TBX1	6899	HP:0000582	Upslanted palpebral fissure
ORPHA:567	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	TBX1	6899	HP:0002357	Dysphasia
ORPHA:567	TBX1	6899	HP:0000405	Conductive hearing impairment
ORPHA:567	TBX1	6899	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	TBX1	6899	HP:0000414	Bulbous nose
ORPHA:567	TBX1	6899	HP:0001660	Truncus arteriosus
ORPHA:567	TBX1	6899	HP:0000343	Long philtrum
ORPHA:567	TBX1	6899	HP:0000369	Low-set ears
ORPHA:567	TBX1	6899	HP:0001629	Ventricular septal defect
ORPHA:567	TBX1	6899	HP:0000600	Abnormality of the pharynx
ORPHA:567	TBX1	6899	HP:0001051	Seborrheic dermatitis
ORPHA:567	TBX1	6899	HP:0000385	Small earlobe
ORPHA:567	TBX1	6899	HP:0000426	Prominent nasal bridge
ORPHA:567	ARVCF	421	HP:0001256	Intellectual disability, mild
ORPHA:567	ARVCF	421	HP:0000276	Long face
ORPHA:567	ARVCF	421	HP:0001281	Tetany
ORPHA:567	ARVCF	421	HP:0005435	Impaired T cell function
ORPHA:567	ARVCF	421	HP:0000175	Cleft palate
ORPHA:567	ARVCF	421	HP:0000089	Renal hypoplasia
ORPHA:567	ARVCF	421	HP:0001328	Specific learning disability
ORPHA:567	ARVCF	421	HP:0000286	Epicanthus
ORPHA:567	ARVCF	421	HP:0000272	Malar flattening
ORPHA:567	ARVCF	421	HP:0001252	Muscular hypotonia
ORPHA:567	ARVCF	421	HP:0000670	Carious teeth
ORPHA:567	ARVCF	421	HP:0003326	Myalgia
ORPHA:567	ARVCF	421	HP:0004322	Short stature
ORPHA:567	ARVCF	421	HP:0011496	Corneal neovascularization
ORPHA:567	ARVCF	421	HP:0000389	Chronic otitis media
ORPHA:567	ARVCF	421	HP:0000470	Short neck
ORPHA:567	ARVCF	421	HP:0001636	Tetralogy of Fallot
ORPHA:567	ARVCF	421	HP:0000829	Hypoparathyroidism
ORPHA:567	ARVCF	421	HP:0000396	Overfolded helix
ORPHA:567	ARVCF	421	HP:0002019	Constipation
ORPHA:567	ARVCF	421	HP:0001631	Atrial septal defect
ORPHA:567	ARVCF	421	HP:0000627	Posterior embryotoxon
ORPHA:567	ARVCF	421	HP:0001611	Nasal speech
ORPHA:567	ARVCF	421	HP:0000431	Wide nasal bridge
ORPHA:567	ARVCF	421	HP:0000778	Hypoplasia of the thymus
ORPHA:567	ARVCF	421	HP:0100765	Abnormality of the tonsils
ORPHA:567	ARVCF	421	HP:0001166	Arachnodactyly
ORPHA:567	ARVCF	421	HP:0002721	Immunodeficiency
ORPHA:567	ARVCF	421	HP:0002901	Hypocalcemia
ORPHA:567	ARVCF	421	HP:0007271	Occipital myelomeningocele
ORPHA:567	ARVCF	421	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	ARVCF	421	HP:0000508	Ptosis
ORPHA:567	ARVCF	421	HP:0001061	Acne
ORPHA:567	ARVCF	421	HP:0002691	Platybasia
ORPHA:567	ARVCF	421	HP:0001263	Global developmental delay
ORPHA:567	ARVCF	421	HP:0000506	Telecanthus
ORPHA:567	ARVCF	421	HP:0000582	Upslanted palpebral fissure
ORPHA:567	ARVCF	421	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	ARVCF	421	HP:0002357	Dysphasia
ORPHA:567	ARVCF	421	HP:0000405	Conductive hearing impairment
ORPHA:567	ARVCF	421	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	ARVCF	421	HP:0000414	Bulbous nose
ORPHA:567	ARVCF	421	HP:0001660	Truncus arteriosus
ORPHA:567	ARVCF	421	HP:0000343	Long philtrum
ORPHA:567	ARVCF	421	HP:0000369	Low-set ears
ORPHA:567	ARVCF	421	HP:0001629	Ventricular septal defect
ORPHA:567	ARVCF	421	HP:0000600	Abnormality of the pharynx
ORPHA:567	ARVCF	421	HP:0001051	Seborrheic dermatitis
ORPHA:567	ARVCF	421	HP:0000385	Small earlobe
ORPHA:567	ARVCF	421	HP:0000426	Prominent nasal bridge
ORPHA:567	UFD1	7353	HP:0001256	Intellectual disability, mild
ORPHA:567	UFD1	7353	HP:0000276	Long face
ORPHA:567	UFD1	7353	HP:0001281	Tetany
ORPHA:567	UFD1	7353	HP:0005435	Impaired T cell function
ORPHA:567	UFD1	7353	HP:0000175	Cleft palate
ORPHA:567	UFD1	7353	HP:0000089	Renal hypoplasia
ORPHA:567	UFD1	7353	HP:0001328	Specific learning disability
ORPHA:567	UFD1	7353	HP:0000286	Epicanthus
ORPHA:567	UFD1	7353	HP:0000272	Malar flattening
ORPHA:567	UFD1	7353	HP:0001252	Muscular hypotonia
ORPHA:567	UFD1	7353	HP:0000670	Carious teeth
ORPHA:567	UFD1	7353	HP:0003326	Myalgia
ORPHA:567	UFD1	7353	HP:0004322	Short stature
ORPHA:567	UFD1	7353	HP:0011496	Corneal neovascularization
ORPHA:567	UFD1	7353	HP:0000389	Chronic otitis media
ORPHA:567	UFD1	7353	HP:0000470	Short neck
ORPHA:567	UFD1	7353	HP:0001636	Tetralogy of Fallot
ORPHA:567	UFD1	7353	HP:0000829	Hypoparathyroidism
ORPHA:567	UFD1	7353	HP:0000396	Overfolded helix
ORPHA:567	UFD1	7353	HP:0002019	Constipation
ORPHA:567	UFD1	7353	HP:0001631	Atrial septal defect
ORPHA:567	UFD1	7353	HP:0000627	Posterior embryotoxon
ORPHA:567	UFD1	7353	HP:0001611	Nasal speech
ORPHA:567	UFD1	7353	HP:0000431	Wide nasal bridge
ORPHA:567	UFD1	7353	HP:0000778	Hypoplasia of the thymus
ORPHA:567	UFD1	7353	HP:0100765	Abnormality of the tonsils
ORPHA:567	UFD1	7353	HP:0001166	Arachnodactyly
ORPHA:567	UFD1	7353	HP:0002721	Immunodeficiency
ORPHA:567	UFD1	7353	HP:0002901	Hypocalcemia
ORPHA:567	UFD1	7353	HP:0007271	Occipital myelomeningocele
ORPHA:567	UFD1	7353	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	UFD1	7353	HP:0000508	Ptosis
ORPHA:567	UFD1	7353	HP:0001061	Acne
ORPHA:567	UFD1	7353	HP:0002691	Platybasia
ORPHA:567	UFD1	7353	HP:0001263	Global developmental delay
ORPHA:567	UFD1	7353	HP:0000506	Telecanthus
ORPHA:567	UFD1	7353	HP:0000582	Upslanted palpebral fissure
ORPHA:567	UFD1	7353	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	UFD1	7353	HP:0002357	Dysphasia
ORPHA:567	UFD1	7353	HP:0000405	Conductive hearing impairment
ORPHA:567	UFD1	7353	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	UFD1	7353	HP:0000414	Bulbous nose
ORPHA:567	UFD1	7353	HP:0001660	Truncus arteriosus
ORPHA:567	UFD1	7353	HP:0000343	Long philtrum
ORPHA:567	UFD1	7353	HP:0000369	Low-set ears
ORPHA:567	UFD1	7353	HP:0001629	Ventricular septal defect
ORPHA:567	UFD1	7353	HP:0000600	Abnormality of the pharynx
ORPHA:567	UFD1	7353	HP:0001051	Seborrheic dermatitis
ORPHA:567	UFD1	7353	HP:0000385	Small earlobe
ORPHA:567	UFD1	7353	HP:0000426	Prominent nasal bridge
ORPHA:567	HIRA	7290	HP:0001256	Intellectual disability, mild
ORPHA:567	HIRA	7290	HP:0000276	Long face
ORPHA:567	HIRA	7290	HP:0001281	Tetany
ORPHA:567	HIRA	7290	HP:0005435	Impaired T cell function
ORPHA:567	HIRA	7290	HP:0000175	Cleft palate
ORPHA:567	HIRA	7290	HP:0000089	Renal hypoplasia
ORPHA:567	HIRA	7290	HP:0001328	Specific learning disability
ORPHA:567	HIRA	7290	HP:0000286	Epicanthus
ORPHA:567	HIRA	7290	HP:0000272	Malar flattening
ORPHA:567	HIRA	7290	HP:0001252	Muscular hypotonia
ORPHA:567	HIRA	7290	HP:0000670	Carious teeth
ORPHA:567	HIRA	7290	HP:0003326	Myalgia
ORPHA:567	HIRA	7290	HP:0004322	Short stature
ORPHA:567	HIRA	7290	HP:0011496	Corneal neovascularization
ORPHA:567	HIRA	7290	HP:0000389	Chronic otitis media
ORPHA:567	HIRA	7290	HP:0000470	Short neck
ORPHA:567	HIRA	7290	HP:0001636	Tetralogy of Fallot
ORPHA:567	HIRA	7290	HP:0000829	Hypoparathyroidism
ORPHA:567	HIRA	7290	HP:0000396	Overfolded helix
ORPHA:567	HIRA	7290	HP:0002019	Constipation
ORPHA:567	HIRA	7290	HP:0001631	Atrial septal defect
ORPHA:567	HIRA	7290	HP:0000627	Posterior embryotoxon
ORPHA:567	HIRA	7290	HP:0001611	Nasal speech
ORPHA:567	HIRA	7290	HP:0000431	Wide nasal bridge
ORPHA:567	HIRA	7290	HP:0000778	Hypoplasia of the thymus
ORPHA:567	HIRA	7290	HP:0100765	Abnormality of the tonsils
ORPHA:567	HIRA	7290	HP:0001166	Arachnodactyly
ORPHA:567	HIRA	7290	HP:0002721	Immunodeficiency
ORPHA:567	HIRA	7290	HP:0002901	Hypocalcemia
ORPHA:567	HIRA	7290	HP:0007271	Occipital myelomeningocele
ORPHA:567	HIRA	7290	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	HIRA	7290	HP:0000508	Ptosis
ORPHA:567	HIRA	7290	HP:0001061	Acne
ORPHA:567	HIRA	7290	HP:0002691	Platybasia
ORPHA:567	HIRA	7290	HP:0001263	Global developmental delay
ORPHA:567	HIRA	7290	HP:0000506	Telecanthus
ORPHA:567	HIRA	7290	HP:0000582	Upslanted palpebral fissure
ORPHA:567	HIRA	7290	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	HIRA	7290	HP:0002357	Dysphasia
ORPHA:567	HIRA	7290	HP:0000405	Conductive hearing impairment
ORPHA:567	HIRA	7290	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	HIRA	7290	HP:0000414	Bulbous nose
ORPHA:567	HIRA	7290	HP:0001660	Truncus arteriosus
ORPHA:567	HIRA	7290	HP:0000343	Long philtrum
ORPHA:567	HIRA	7290	HP:0000369	Low-set ears
ORPHA:567	HIRA	7290	HP:0001629	Ventricular septal defect
ORPHA:567	HIRA	7290	HP:0000600	Abnormality of the pharynx
ORPHA:567	HIRA	7290	HP:0001051	Seborrheic dermatitis
ORPHA:567	HIRA	7290	HP:0000385	Small earlobe
ORPHA:567	HIRA	7290	HP:0000426	Prominent nasal bridge
ORPHA:567	GP1BB	2812	HP:0001256	Intellectual disability, mild
ORPHA:567	GP1BB	2812	HP:0000276	Long face
ORPHA:567	GP1BB	2812	HP:0001281	Tetany
ORPHA:567	GP1BB	2812	HP:0005435	Impaired T cell function
ORPHA:567	GP1BB	2812	HP:0000175	Cleft palate
ORPHA:567	GP1BB	2812	HP:0000089	Renal hypoplasia
ORPHA:567	GP1BB	2812	HP:0001328	Specific learning disability
ORPHA:567	GP1BB	2812	HP:0000286	Epicanthus
ORPHA:567	GP1BB	2812	HP:0000272	Malar flattening
ORPHA:567	GP1BB	2812	HP:0001252	Muscular hypotonia
ORPHA:567	GP1BB	2812	HP:0000670	Carious teeth
ORPHA:567	GP1BB	2812	HP:0003326	Myalgia
ORPHA:567	GP1BB	2812	HP:0004322	Short stature
ORPHA:567	GP1BB	2812	HP:0011496	Corneal neovascularization
ORPHA:567	GP1BB	2812	HP:0000389	Chronic otitis media
ORPHA:567	GP1BB	2812	HP:0000470	Short neck
ORPHA:567	GP1BB	2812	HP:0001636	Tetralogy of Fallot
ORPHA:567	GP1BB	2812	HP:0000829	Hypoparathyroidism
ORPHA:567	GP1BB	2812	HP:0000396	Overfolded helix
ORPHA:567	GP1BB	2812	HP:0002019	Constipation
ORPHA:567	GP1BB	2812	HP:0001631	Atrial septal defect
ORPHA:567	GP1BB	2812	HP:0000627	Posterior embryotoxon
ORPHA:567	GP1BB	2812	HP:0001611	Nasal speech
ORPHA:567	GP1BB	2812	HP:0000431	Wide nasal bridge
ORPHA:567	GP1BB	2812	HP:0000778	Hypoplasia of the thymus
ORPHA:567	GP1BB	2812	HP:0100765	Abnormality of the tonsils
ORPHA:567	GP1BB	2812	HP:0001166	Arachnodactyly
ORPHA:567	GP1BB	2812	HP:0002721	Immunodeficiency
ORPHA:567	GP1BB	2812	HP:0002901	Hypocalcemia
ORPHA:567	GP1BB	2812	HP:0007271	Occipital myelomeningocele
ORPHA:567	GP1BB	2812	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	GP1BB	2812	HP:0000508	Ptosis
ORPHA:567	GP1BB	2812	HP:0001061	Acne
ORPHA:567	GP1BB	2812	HP:0002691	Platybasia
ORPHA:567	GP1BB	2812	HP:0001263	Global developmental delay
ORPHA:567	GP1BB	2812	HP:0000506	Telecanthus
ORPHA:567	GP1BB	2812	HP:0000582	Upslanted palpebral fissure
ORPHA:567	GP1BB	2812	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	GP1BB	2812	HP:0002357	Dysphasia
ORPHA:567	GP1BB	2812	HP:0000405	Conductive hearing impairment
ORPHA:567	GP1BB	2812	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	GP1BB	2812	HP:0000414	Bulbous nose
ORPHA:567	GP1BB	2812	HP:0001660	Truncus arteriosus
ORPHA:567	GP1BB	2812	HP:0000343	Long philtrum
ORPHA:567	GP1BB	2812	HP:0000369	Low-set ears
ORPHA:567	GP1BB	2812	HP:0001629	Ventricular septal defect
ORPHA:567	GP1BB	2812	HP:0000600	Abnormality of the pharynx
ORPHA:567	GP1BB	2812	HP:0001051	Seborrheic dermatitis
ORPHA:567	GP1BB	2812	HP:0000385	Small earlobe
ORPHA:567	GP1BB	2812	HP:0000426	Prominent nasal bridge
ORPHA:567	JMJD1C	221037	HP:0001256	Intellectual disability, mild
ORPHA:567	JMJD1C	221037	HP:0000276	Long face
ORPHA:567	JMJD1C	221037	HP:0001281	Tetany
ORPHA:567	JMJD1C	221037	HP:0005435	Impaired T cell function
ORPHA:567	JMJD1C	221037	HP:0000175	Cleft palate
ORPHA:567	JMJD1C	221037	HP:0000089	Renal hypoplasia
ORPHA:567	JMJD1C	221037	HP:0001328	Specific learning disability
ORPHA:567	JMJD1C	221037	HP:0000286	Epicanthus
ORPHA:567	JMJD1C	221037	HP:0000272	Malar flattening
ORPHA:567	JMJD1C	221037	HP:0001252	Muscular hypotonia
ORPHA:567	JMJD1C	221037	HP:0000670	Carious teeth
ORPHA:567	JMJD1C	221037	HP:0003326	Myalgia
ORPHA:567	JMJD1C	221037	HP:0004322	Short stature
ORPHA:567	JMJD1C	221037	HP:0011496	Corneal neovascularization
ORPHA:567	JMJD1C	221037	HP:0000389	Chronic otitis media
ORPHA:567	JMJD1C	221037	HP:0000470	Short neck
ORPHA:567	JMJD1C	221037	HP:0001636	Tetralogy of Fallot
ORPHA:567	JMJD1C	221037	HP:0000829	Hypoparathyroidism
ORPHA:567	JMJD1C	221037	HP:0000396	Overfolded helix
ORPHA:567	JMJD1C	221037	HP:0002019	Constipation
ORPHA:567	JMJD1C	221037	HP:0001631	Atrial septal defect
ORPHA:567	JMJD1C	221037	HP:0000627	Posterior embryotoxon
ORPHA:567	JMJD1C	221037	HP:0001611	Nasal speech
ORPHA:567	JMJD1C	221037	HP:0000431	Wide nasal bridge
ORPHA:567	JMJD1C	221037	HP:0000778	Hypoplasia of the thymus
ORPHA:567	JMJD1C	221037	HP:0100765	Abnormality of the tonsils
ORPHA:567	JMJD1C	221037	HP:0001166	Arachnodactyly
ORPHA:567	JMJD1C	221037	HP:0002721	Immunodeficiency
ORPHA:567	JMJD1C	221037	HP:0002901	Hypocalcemia
ORPHA:567	JMJD1C	221037	HP:0007271	Occipital myelomeningocele
ORPHA:567	JMJD1C	221037	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	JMJD1C	221037	HP:0000508	Ptosis
ORPHA:567	JMJD1C	221037	HP:0001061	Acne
ORPHA:567	JMJD1C	221037	HP:0002691	Platybasia
ORPHA:567	JMJD1C	221037	HP:0001263	Global developmental delay
ORPHA:567	JMJD1C	221037	HP:0000506	Telecanthus
ORPHA:567	JMJD1C	221037	HP:0000582	Upslanted palpebral fissure
ORPHA:567	JMJD1C	221037	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	JMJD1C	221037	HP:0002357	Dysphasia
ORPHA:567	JMJD1C	221037	HP:0000405	Conductive hearing impairment
ORPHA:567	JMJD1C	221037	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	JMJD1C	221037	HP:0000414	Bulbous nose
ORPHA:567	JMJD1C	221037	HP:0001660	Truncus arteriosus
ORPHA:567	JMJD1C	221037	HP:0000343	Long philtrum
ORPHA:567	JMJD1C	221037	HP:0000369	Low-set ears
ORPHA:567	JMJD1C	221037	HP:0001629	Ventricular septal defect
ORPHA:567	JMJD1C	221037	HP:0000600	Abnormality of the pharynx
ORPHA:567	JMJD1C	221037	HP:0001051	Seborrheic dermatitis
ORPHA:567	JMJD1C	221037	HP:0000385	Small earlobe
ORPHA:567	JMJD1C	221037	HP:0000426	Prominent nasal bridge
ORPHA:567	RREB1	6239	HP:0001256	Intellectual disability, mild
ORPHA:567	RREB1	6239	HP:0000276	Long face
ORPHA:567	RREB1	6239	HP:0001281	Tetany
ORPHA:567	RREB1	6239	HP:0005435	Impaired T cell function
ORPHA:567	RREB1	6239	HP:0000175	Cleft palate
ORPHA:567	RREB1	6239	HP:0000089	Renal hypoplasia
ORPHA:567	RREB1	6239	HP:0001328	Specific learning disability
ORPHA:567	RREB1	6239	HP:0000286	Epicanthus
ORPHA:567	RREB1	6239	HP:0000272	Malar flattening
ORPHA:567	RREB1	6239	HP:0001252	Muscular hypotonia
ORPHA:567	RREB1	6239	HP:0000670	Carious teeth
ORPHA:567	RREB1	6239	HP:0003326	Myalgia
ORPHA:567	RREB1	6239	HP:0004322	Short stature
ORPHA:567	RREB1	6239	HP:0011496	Corneal neovascularization
ORPHA:567	RREB1	6239	HP:0000389	Chronic otitis media
ORPHA:567	RREB1	6239	HP:0000470	Short neck
ORPHA:567	RREB1	6239	HP:0001636	Tetralogy of Fallot
ORPHA:567	RREB1	6239	HP:0000829	Hypoparathyroidism
ORPHA:567	RREB1	6239	HP:0000396	Overfolded helix
ORPHA:567	RREB1	6239	HP:0002019	Constipation
ORPHA:567	RREB1	6239	HP:0001631	Atrial septal defect
ORPHA:567	RREB1	6239	HP:0000627	Posterior embryotoxon
ORPHA:567	RREB1	6239	HP:0001611	Nasal speech
ORPHA:567	RREB1	6239	HP:0000431	Wide nasal bridge
ORPHA:567	RREB1	6239	HP:0000778	Hypoplasia of the thymus
ORPHA:567	RREB1	6239	HP:0100765	Abnormality of the tonsils
ORPHA:567	RREB1	6239	HP:0001166	Arachnodactyly
ORPHA:567	RREB1	6239	HP:0002721	Immunodeficiency
ORPHA:567	RREB1	6239	HP:0002901	Hypocalcemia
ORPHA:567	RREB1	6239	HP:0007271	Occipital myelomeningocele
ORPHA:567	RREB1	6239	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	RREB1	6239	HP:0000508	Ptosis
ORPHA:567	RREB1	6239	HP:0001061	Acne
ORPHA:567	RREB1	6239	HP:0002691	Platybasia
ORPHA:567	RREB1	6239	HP:0001263	Global developmental delay
ORPHA:567	RREB1	6239	HP:0000506	Telecanthus
ORPHA:567	RREB1	6239	HP:0000582	Upslanted palpebral fissure
ORPHA:567	RREB1	6239	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	RREB1	6239	HP:0002357	Dysphasia
ORPHA:567	RREB1	6239	HP:0000405	Conductive hearing impairment
ORPHA:567	RREB1	6239	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	RREB1	6239	HP:0000414	Bulbous nose
ORPHA:567	RREB1	6239	HP:0001660	Truncus arteriosus
ORPHA:567	RREB1	6239	HP:0000343	Long philtrum
ORPHA:567	RREB1	6239	HP:0000369	Low-set ears
ORPHA:567	RREB1	6239	HP:0001629	Ventricular septal defect
ORPHA:567	RREB1	6239	HP:0000600	Abnormality of the pharynx
ORPHA:567	RREB1	6239	HP:0001051	Seborrheic dermatitis
ORPHA:567	RREB1	6239	HP:0000385	Small earlobe
ORPHA:567	RREB1	6239	HP:0000426	Prominent nasal bridge
OMIM:166350	GNAS	2778	HP:0003828	Variable expressivity
OMIM:166350	GNAS	2778	HP:0001510	Growth delay
OMIM:166350	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:166350	GNAS	2778	HP:0003676	Progressive
OMIM:166350	GNAS	2778	HP:0003593	Infantile onset
OMIM:166350	GNAS	2778	HP:0003621	Juvenile onset
OMIM:166350	GNAS	2778	HP:0100246	Osteoma
OMIM:166350	GNAS	2778	HP:0000951	Abnormality of the skin
OMIM:166350	GNAS	2778	HP:0003011	Abnormality of the musculature
ORPHA:168624	FGFR2	2263	HP:0010807	Open bite
ORPHA:168624	FGFR2	2263	HP:0001256	Intellectual disability, mild
ORPHA:168624	FGFR2	2263	HP:0000218	High palate
ORPHA:168624	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:168624	FGFR2	2263	HP:0000268	Dolichocephaly
ORPHA:168624	FGFR2	2263	HP:0000256	Macrocephaly
ORPHA:168624	FGFR2	2263	HP:0000348	High forehead
ORPHA:168624	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:308050	NSDHL	50814	HP:0001256	Intellectual disability, mild
OMIM:308050	NSDHL	50814	HP:0000962	Hyperkeratosis
OMIM:308050	NSDHL	50814	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:308050	NSDHL	50814	HP:0008883	Mild intrauterine growth retardation
OMIM:308050	NSDHL	50814	HP:0001425	Heterogeneous
OMIM:308050	NSDHL	50814	HP:0009815	Aplasia/hypoplasia of the extremities
OMIM:308050	NSDHL	50814	HP:0001750	Single ventricle
OMIM:308050	NSDHL	50814	HP:0000204	Cleft upper lip
OMIM:308050	NSDHL	50814	HP:0001423	X-linked dominant inheritance
OMIM:308050	NSDHL	50814	HP:0001671	Abnormality of the cardiac septa
OMIM:308050	NSDHL	50814	HP:0008839	Hypoplastic pelvis
OMIM:308050	NSDHL	50814	HP:0010655	Epiphyseal stippling
OMIM:308050	NSDHL	50814	HP:0000126	Hydronephrosis
OMIM:308050	NSDHL	50814	HP:0001537	Umbilical hernia
OMIM:308050	NSDHL	50814	HP:0001597	Abnormality of the nail
OMIM:308050	NSDHL	50814	HP:0001036	Parakeratosis
OMIM:613818	DAG1	1605	HP:0000750	Delayed speech and language development
OMIM:613818	DAG1	1605	HP:0001249	Intellectual disability
OMIM:613818	DAG1	1605	HP:0003325	Limb-girdle muscle weakness
OMIM:613818	DAG1	1605	HP:0001263	Global developmental delay
OMIM:613818	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613818	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613818	DAG1	1605	HP:0003391	Gowers sign
OMIM:613818	DAG1	1605	HP:0002938	Lumbar hyperlordosis
OMIM:613818	DAG1	1605	HP:0006466	Ankle contracture
OMIM:613818	DAG1	1605	HP:0000007	Autosomal recessive inheritance
ORPHA:931	LMBR1	64327	HP:0002990	Fibular aplasia
ORPHA:931	LMBR1	64327	HP:0004050	Absent hand
ORPHA:931	LMBR1	64327	HP:0000944	Abnormality of the metaphysis
ORPHA:931	LMBR1	64327	HP:0003982	Aplasia of the ulna
ORPHA:931	LMBR1	64327	HP:0005930	Abnormality of epiphysis morphology
ORPHA:931	LMBR1	64327	HP:0009813	Upper limb phocomelia
ORPHA:931	LMBR1	64327	HP:0003974	Absent radius
ORPHA:931	LMBR1	64327	HP:0005792	Short humerus
OMIM:162300	RET	5979	HP:0005994	Nodular goiter
OMIM:162300	RET	5979	HP:0008208	Parathyroid hyperplasia
OMIM:162300	RET	5979	HP:0002808	Kyphosis
OMIM:162300	RET	5979	HP:0003307	Hyperlordosis
OMIM:162300	RET	5979	HP:0000179	Thick lower lip vermilion
OMIM:162300	RET	5979	HP:0003639	Elevated urinary epinephrine
OMIM:162300	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:162300	RET	5979	HP:0000951	Abnormality of the skin
OMIM:162300	RET	5979	HP:0001388	Joint laxity
OMIM:162300	RET	5979	HP:0001263	Global developmental delay
OMIM:162300	RET	5979	HP:0003005	Ganglioneuroma
OMIM:162300	RET	5979	HP:0000574	Thick eyebrow
OMIM:162300	RET	5979	HP:0006461	Proximal femoral epiphysiolysis
OMIM:162300	RET	5979	HP:0002666	Pheochromocytoma
OMIM:162300	RET	5979	HP:0002014	Diarrhea
OMIM:162300	RET	5979	HP:0001290	Generalized hypotonia
OMIM:162300	RET	5979	HP:0003198	Myopathy
OMIM:162300	RET	5979	HP:0002253	Colonic diverticula
OMIM:162300	RET	5979	HP:0003528	Elevated calcitonin
OMIM:162300	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:162300	RET	5979	HP:0001761	Pes cavus
OMIM:162300	RET	5979	HP:0000767	Pectus excavatum
OMIM:162300	RET	5979	HP:0001531	Failure to thrive in infancy
OMIM:162300	RET	5979	HP:0001519	Disproportionate tall stature
OMIM:162300	RET	5979	HP:0002865	Medullary thyroid carcinoma
OMIM:162300	RET	5979	HP:0002019	Constipation
OMIM:162300	RET	5979	HP:0002650	Scoliosis
OMIM:162300	RET	5979	HP:0002705	High, narrow palate
OMIM:616291	SLC9A1	6548	HP:0001260	Dysarthria
OMIM:616291	SLC9A1	6548	HP:0003676	Progressive
OMIM:616291	SLC9A1	6548	HP:0000007	Autosomal recessive inheritance
OMIM:616291	SLC9A1	6548	HP:0002345	Action tremor
OMIM:616291	SLC9A1	6548	HP:0001270	Motor delay
OMIM:616291	SLC9A1	6548	HP:0002070	Limb ataxia
OMIM:616291	SLC9A1	6548	HP:0002075	Dysdiadochokinesis
OMIM:616291	SLC9A1	6548	HP:0002066	Gait ataxia
OMIM:616291	SLC9A1	6548	HP:0001310	Dysmetria
OMIM:609115	HNRNPDL	9987	HP:0003829	Incomplete penetrance
OMIM:609115	HNRNPDL	9987	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609115	HNRNPDL	9987	HP:0003547	Shoulder girdle muscle weakness
OMIM:609115	HNRNPDL	9987	HP:0003677	Slow progression
OMIM:609115	HNRNPDL	9987	HP:0000518	Cataract
OMIM:609115	HNRNPDL	9987	HP:0006203	Decreased movement range in interphalangeal joints
OMIM:609115	HNRNPDL	9987	HP:0008956	Proximal lower limb amyotrophy
OMIM:609115	HNRNPDL	9987	HP:0000006	Autosomal dominant inheritance
OMIM:609115	HNRNPDL	9987	HP:0003805	Rimmed vacuoles
OMIM:609115	HNRNPDL	9987	HP:0003198	Myopathy
OMIM:609115	HNRNPDL	9987	HP:0008948	Proximal upper limb amyotrophy
OMIM:609115	HNRNPDL	9987	HP:0003581	Adult onset
OMIM:609115	HNRNPDL	9987	HP:0003749	Pelvic girdle muscle weakness
OMIM:609115	HNRNPDL	9987	HP:0006785	Limb-girdle muscular dystrophy
OMIM:609115	HNRNPDL	9987	HP:0008116	Flexion limitation of toes
ORPHA:89839	COL7A1	1294	HP:0200041	Skin erosion
ORPHA:89839	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:89839	COL7A1	1294	HP:0006297	Hypoplasia of dental enamel
ORPHA:89839	COL7A1	1294	HP:0001030	Fragile skin
ORPHA:89839	COL7A1	1294	HP:0001056	Milia
OMIM:616577	SPATA5	166378	HP:0011968	Feeding difficulties
OMIM:616577	SPATA5	166378	HP:0000407	Sensorineural hearing impairment
OMIM:616577	SPATA5	166378	HP:0010864	Intellectual disability, severe
OMIM:616577	SPATA5	166378	HP:0001249	Intellectual disability
OMIM:616577	SPATA5	166378	HP:0008936	Muscular hypotonia of the trunk
OMIM:616577	SPATA5	166378	HP:0002509	Limb hypertonia
OMIM:616577	SPATA5	166378	HP:0001263	Global developmental delay
OMIM:616577	SPATA5	166378	HP:0001344	Absent speech
OMIM:616577	SPATA5	166378	HP:0001250	Seizures
OMIM:616577	SPATA5	166378	HP:0000007	Autosomal recessive inheritance
OMIM:616577	SPATA5	166378	HP:0000252	Microcephaly
OMIM:616577	SPATA5	166378	HP:0002353	EEG abnormality
OMIM:616577	SPATA5	166378	HP:0001257	Spasticity
OMIM:611561	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:611561	RPGRIP1L	23322	HP:0001830	Postaxial foot polydactyly
OMIM:611561	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:611561	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:611561	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:611561	RPGRIP1L	23322	HP:0000079	Abnormality of the urinary system
OMIM:611561	RPGRIP1L	23322	HP:0001425	Heterogeneous
OMIM:611561	RPGRIP1L	23322	HP:0000204	Cleft upper lip
OMIM:611561	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:611561	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:611561	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:611561	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
OMIM:167030	SLC26A1	10861	HP:0000074	Ureteropelvic junction obstruction
OMIM:167030	SLC26A1	10861	HP:0000007	Autosomal recessive inheritance
OMIM:167030	SLC26A1	10861	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:167030	SLC26A1	10861	HP:0001919	Acute kidney injury
OMIM:167030	SLC26A1	10861	HP:0003159	Hyperoxaluria
ORPHA:1797	TBX6	6911	HP:0002650	Scoliosis
ORPHA:1797	TBX6	6911	HP:0003510	Severe short stature
ORPHA:1797	TBX6	6911	HP:0000431	Wide nasal bridge
ORPHA:1797	TBX6	6911	HP:0003307	Hyperlordosis
ORPHA:1797	TBX6	6911	HP:0010306	Short thorax
ORPHA:1797	TBX6	6911	HP:0001511	Intrauterine growth retardation
ORPHA:1797	TBX6	6911	HP:0000269	Prominent occiput
ORPHA:1797	TBX6	6911	HP:0003422	Vertebral segmentation defect
ORPHA:1797	TBX6	6911	HP:0000463	Anteverted nares
ORPHA:1797	TBX6	6911	HP:0000582	Upslanted palpebral fissure
ORPHA:1797	TBX6	6911	HP:0000470	Short neck
ORPHA:83473	AKT3	10000	HP:0002126	Polymicrogyria
ORPHA:83473	AKT3	10000	HP:0005105	Abnormal nasal morphology
ORPHA:83473	AKT3	10000	HP:0001629	Ventricular septal defect
ORPHA:83473	AKT3	10000	HP:0001162	Postaxial hand polydactyly
ORPHA:83473	AKT3	10000	HP:0001355	Megalencephaly
ORPHA:83473	AKT3	10000	HP:0000160	Narrow mouth
ORPHA:83473	AKT3	10000	HP:0001653	Mitral regurgitation
ORPHA:83473	AKT3	10000	HP:0000348	High forehead
ORPHA:83473	AKT3	10000	HP:0100542	Abnormal localization of kidney
ORPHA:83473	AKT3	10000	HP:0005280	Depressed nasal bridge
ORPHA:83473	AKT3	10000	HP:0000506	Telecanthus
ORPHA:83473	AKT3	10000	HP:0001250	Seizures
ORPHA:83473	AKT3	10000	HP:0000238	Hydrocephalus
ORPHA:83473	AKT3	10000	HP:0000316	Hypertelorism
ORPHA:83473	AKT3	10000	HP:0000256	Macrocephaly
ORPHA:83473	PIK3R2	5296	HP:0002126	Polymicrogyria
ORPHA:83473	PIK3R2	5296	HP:0005105	Abnormal nasal morphology
ORPHA:83473	PIK3R2	5296	HP:0001629	Ventricular septal defect
ORPHA:83473	PIK3R2	5296	HP:0001162	Postaxial hand polydactyly
ORPHA:83473	PIK3R2	5296	HP:0001355	Megalencephaly
ORPHA:83473	PIK3R2	5296	HP:0000160	Narrow mouth
ORPHA:83473	PIK3R2	5296	HP:0001653	Mitral regurgitation
ORPHA:83473	PIK3R2	5296	HP:0000348	High forehead
ORPHA:83473	PIK3R2	5296	HP:0100542	Abnormal localization of kidney
ORPHA:83473	PIK3R2	5296	HP:0005280	Depressed nasal bridge
ORPHA:83473	PIK3R2	5296	HP:0000506	Telecanthus
ORPHA:83473	PIK3R2	5296	HP:0001250	Seizures
ORPHA:83473	PIK3R2	5296	HP:0000238	Hydrocephalus
ORPHA:83473	PIK3R2	5296	HP:0000316	Hypertelorism
ORPHA:83473	PIK3R2	5296	HP:0000256	Macrocephaly
ORPHA:83473	CCND2	894	HP:0002126	Polymicrogyria
ORPHA:83473	CCND2	894	HP:0005105	Abnormal nasal morphology
ORPHA:83473	CCND2	894	HP:0001629	Ventricular septal defect
ORPHA:83473	CCND2	894	HP:0001162	Postaxial hand polydactyly
ORPHA:83473	CCND2	894	HP:0001355	Megalencephaly
ORPHA:83473	CCND2	894	HP:0000160	Narrow mouth
ORPHA:83473	CCND2	894	HP:0001653	Mitral regurgitation
ORPHA:83473	CCND2	894	HP:0000348	High forehead
ORPHA:83473	CCND2	894	HP:0100542	Abnormal localization of kidney
ORPHA:83473	CCND2	894	HP:0005280	Depressed nasal bridge
ORPHA:83473	CCND2	894	HP:0000506	Telecanthus
ORPHA:83473	CCND2	894	HP:0001250	Seizures
ORPHA:83473	CCND2	894	HP:0000238	Hydrocephalus
ORPHA:83473	CCND2	894	HP:0000316	Hypertelorism
ORPHA:83473	CCND2	894	HP:0000256	Macrocephaly
OMIM:615812	DYRK1B	9149	HP:0001956	Truncal obesity
OMIM:615812	DYRK1B	9149	HP:0003124	Hypercholesterolemia
OMIM:615812	DYRK1B	9149	HP:0012743	Abdominal obesity
OMIM:615812	DYRK1B	9149	HP:0000006	Autosomal dominant inheritance
OMIM:615812	DYRK1B	9149	HP:0000822	Hypertension
ORPHA:186	SPIB	6689	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	SPIB	6689	HP:0001278	Orthostatic hypotension
ORPHA:186	SPIB	6689	HP:0012203	Onychomycosis
ORPHA:186	SPIB	6689	HP:0003496	Increased IgM level
ORPHA:186	SPIB	6689	HP:0003493	Antinuclear antibody positivity
ORPHA:186	SPIB	6689	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	SPIB	6689	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	SPIB	6689	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	SPIB	6689	HP:0011971	Dermatographic urticaria
ORPHA:186	SPIB	6689	HP:0000952	Jaundice
ORPHA:186	SPIB	6689	HP:0000989	Pruritus
ORPHA:186	SPIB	6689	HP:0001409	Portal hypertension
ORPHA:186	SPIB	6689	HP:0001395	Hepatic fibrosis
ORPHA:186	SPIB	6689	HP:0001402	Hepatocellular carcinoma
ORPHA:186	SPIB	6689	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	SPIB	6689	HP:0001399	Hepatic failure
ORPHA:186	SPIB	6689	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	SPIB	6689	HP:0002613	Biliary cirrhosis
ORPHA:186	SPIB	6689	HP:0001394	Cirrhosis
ORPHA:186	IL12A	3592	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	IL12A	3592	HP:0001278	Orthostatic hypotension
ORPHA:186	IL12A	3592	HP:0012203	Onychomycosis
ORPHA:186	IL12A	3592	HP:0003496	Increased IgM level
ORPHA:186	IL12A	3592	HP:0003493	Antinuclear antibody positivity
ORPHA:186	IL12A	3592	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	IL12A	3592	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	IL12A	3592	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	IL12A	3592	HP:0011971	Dermatographic urticaria
ORPHA:186	IL12A	3592	HP:0000952	Jaundice
ORPHA:186	IL12A	3592	HP:0000989	Pruritus
ORPHA:186	IL12A	3592	HP:0001409	Portal hypertension
ORPHA:186	IL12A	3592	HP:0001395	Hepatic fibrosis
ORPHA:186	IL12A	3592	HP:0001402	Hepatocellular carcinoma
ORPHA:186	IL12A	3592	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	IL12A	3592	HP:0001399	Hepatic failure
ORPHA:186	IL12A	3592	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	IL12A	3592	HP:0002613	Biliary cirrhosis
ORPHA:186	IL12A	3592	HP:0001394	Cirrhosis
ORPHA:186	IL12RB1	3594	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	IL12RB1	3594	HP:0001278	Orthostatic hypotension
ORPHA:186	IL12RB1	3594	HP:0012203	Onychomycosis
ORPHA:186	IL12RB1	3594	HP:0003496	Increased IgM level
ORPHA:186	IL12RB1	3594	HP:0003493	Antinuclear antibody positivity
ORPHA:186	IL12RB1	3594	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	IL12RB1	3594	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	IL12RB1	3594	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	IL12RB1	3594	HP:0011971	Dermatographic urticaria
ORPHA:186	IL12RB1	3594	HP:0000952	Jaundice
ORPHA:186	IL12RB1	3594	HP:0000989	Pruritus
ORPHA:186	IL12RB1	3594	HP:0001409	Portal hypertension
ORPHA:186	IL12RB1	3594	HP:0001395	Hepatic fibrosis
ORPHA:186	IL12RB1	3594	HP:0001402	Hepatocellular carcinoma
ORPHA:186	IL12RB1	3594	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	IL12RB1	3594	HP:0001399	Hepatic failure
ORPHA:186	IL12RB1	3594	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	IL12RB1	3594	HP:0002613	Biliary cirrhosis
ORPHA:186	IL12RB1	3594	HP:0001394	Cirrhosis
ORPHA:186	POU2AF1	5450	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	POU2AF1	5450	HP:0001278	Orthostatic hypotension
ORPHA:186	POU2AF1	5450	HP:0012203	Onychomycosis
ORPHA:186	POU2AF1	5450	HP:0003496	Increased IgM level
ORPHA:186	POU2AF1	5450	HP:0003493	Antinuclear antibody positivity
ORPHA:186	POU2AF1	5450	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	POU2AF1	5450	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	POU2AF1	5450	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	POU2AF1	5450	HP:0011971	Dermatographic urticaria
ORPHA:186	POU2AF1	5450	HP:0000952	Jaundice
ORPHA:186	POU2AF1	5450	HP:0000989	Pruritus
ORPHA:186	POU2AF1	5450	HP:0001409	Portal hypertension
ORPHA:186	POU2AF1	5450	HP:0001395	Hepatic fibrosis
ORPHA:186	POU2AF1	5450	HP:0001402	Hepatocellular carcinoma
ORPHA:186	POU2AF1	5450	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	POU2AF1	5450	HP:0001399	Hepatic failure
ORPHA:186	POU2AF1	5450	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	POU2AF1	5450	HP:0002613	Biliary cirrhosis
ORPHA:186	POU2AF1	5450	HP:0001394	Cirrhosis
ORPHA:186	MMEL1	79258	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	MMEL1	79258	HP:0001278	Orthostatic hypotension
ORPHA:186	MMEL1	79258	HP:0012203	Onychomycosis
ORPHA:186	MMEL1	79258	HP:0003496	Increased IgM level
ORPHA:186	MMEL1	79258	HP:0003493	Antinuclear antibody positivity
ORPHA:186	MMEL1	79258	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	MMEL1	79258	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	MMEL1	79258	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	MMEL1	79258	HP:0011971	Dermatographic urticaria
ORPHA:186	MMEL1	79258	HP:0000952	Jaundice
ORPHA:186	MMEL1	79258	HP:0000989	Pruritus
ORPHA:186	MMEL1	79258	HP:0001409	Portal hypertension
ORPHA:186	MMEL1	79258	HP:0001395	Hepatic fibrosis
ORPHA:186	MMEL1	79258	HP:0001402	Hepatocellular carcinoma
ORPHA:186	MMEL1	79258	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	MMEL1	79258	HP:0001399	Hepatic failure
ORPHA:186	MMEL1	79258	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	MMEL1	79258	HP:0002613	Biliary cirrhosis
ORPHA:186	MMEL1	79258	HP:0001394	Cirrhosis
ORPHA:186	TNPO3	23534	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	TNPO3	23534	HP:0001278	Orthostatic hypotension
ORPHA:186	TNPO3	23534	HP:0012203	Onychomycosis
ORPHA:186	TNPO3	23534	HP:0003496	Increased IgM level
ORPHA:186	TNPO3	23534	HP:0003493	Antinuclear antibody positivity
ORPHA:186	TNPO3	23534	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	TNPO3	23534	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	TNPO3	23534	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	TNPO3	23534	HP:0011971	Dermatographic urticaria
ORPHA:186	TNPO3	23534	HP:0000952	Jaundice
ORPHA:186	TNPO3	23534	HP:0000989	Pruritus
ORPHA:186	TNPO3	23534	HP:0001409	Portal hypertension
ORPHA:186	TNPO3	23534	HP:0001395	Hepatic fibrosis
ORPHA:186	TNPO3	23534	HP:0001402	Hepatocellular carcinoma
ORPHA:186	TNPO3	23534	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	TNPO3	23534	HP:0001399	Hepatic failure
ORPHA:186	TNPO3	23534	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	TNPO3	23534	HP:0002613	Biliary cirrhosis
ORPHA:186	TNPO3	23534	HP:0001394	Cirrhosis
ORPHA:186	TNFSF15	9966	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	TNFSF15	9966	HP:0001278	Orthostatic hypotension
ORPHA:186	TNFSF15	9966	HP:0012203	Onychomycosis
ORPHA:186	TNFSF15	9966	HP:0003496	Increased IgM level
ORPHA:186	TNFSF15	9966	HP:0003493	Antinuclear antibody positivity
ORPHA:186	TNFSF15	9966	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	TNFSF15	9966	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	TNFSF15	9966	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	TNFSF15	9966	HP:0011971	Dermatographic urticaria
ORPHA:186	TNFSF15	9966	HP:0000952	Jaundice
ORPHA:186	TNFSF15	9966	HP:0000989	Pruritus
ORPHA:186	TNFSF15	9966	HP:0001409	Portal hypertension
ORPHA:186	TNFSF15	9966	HP:0001395	Hepatic fibrosis
ORPHA:186	TNFSF15	9966	HP:0001402	Hepatocellular carcinoma
ORPHA:186	TNFSF15	9966	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	TNFSF15	9966	HP:0001399	Hepatic failure
ORPHA:186	TNFSF15	9966	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	TNFSF15	9966	HP:0002613	Biliary cirrhosis
ORPHA:186	TNFSF15	9966	HP:0001394	Cirrhosis
ORPHA:186	IRF5	3663	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	IRF5	3663	HP:0001278	Orthostatic hypotension
ORPHA:186	IRF5	3663	HP:0012203	Onychomycosis
ORPHA:186	IRF5	3663	HP:0003496	Increased IgM level
ORPHA:186	IRF5	3663	HP:0003493	Antinuclear antibody positivity
ORPHA:186	IRF5	3663	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	IRF5	3663	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	IRF5	3663	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	IRF5	3663	HP:0011971	Dermatographic urticaria
ORPHA:186	IRF5	3663	HP:0000952	Jaundice
ORPHA:186	IRF5	3663	HP:0000989	Pruritus
ORPHA:186	IRF5	3663	HP:0001409	Portal hypertension
ORPHA:186	IRF5	3663	HP:0001395	Hepatic fibrosis
ORPHA:186	IRF5	3663	HP:0001402	Hepatocellular carcinoma
ORPHA:186	IRF5	3663	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	IRF5	3663	HP:0001399	Hepatic failure
ORPHA:186	IRF5	3663	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	IRF5	3663	HP:0002613	Biliary cirrhosis
ORPHA:186	IRF5	3663	HP:0001394	Cirrhosis
OMIM:191830	PAX2	5076	HP:0001762	Talipes equinovarus
OMIM:191830	PAX2	5076	HP:0000007	Autosomal recessive inheritance
OMIM:191830	PAX2	5076	HP:0000369	Low-set ears
OMIM:191830	PAX2	5076	HP:0000104	Renal agenesis
OMIM:191830	PAX2	5076	HP:0000093	Proteinuria
OMIM:191830	PAX2	5076	HP:0003577	Congenital onset
OMIM:191830	PAX2	5076	HP:0000316	Hypertelorism
OMIM:191830	PAX2	5076	HP:0001760	Abnormality of the foot
OMIM:191830	PAX2	5076	HP:0001562	Oligohydramnios
OMIM:191830	PAX2	5076	HP:0000786	Primary amenorrhea
OMIM:191830	PAX2	5076	HP:0002089	Pulmonary hypoplasia
OMIM:191830	PAX2	5076	HP:0000006	Autosomal dominant inheritance
OMIM:191830	PAX2	5076	HP:0000110	Renal dysplasia
OMIM:191830	PAX2	5076	HP:0000148	Vaginal atresia
OMIM:191830	PAX2	5076	HP:0000822	Hypertension
OMIM:191830	PAX2	5076	HP:0002009	Potter facies
OMIM:191830	PAX2	5076	HP:0000813	Bicornuate uterus
OMIM:191830	PAX2	5076	HP:0000278	Retrognathia
OMIM:191830	ITGA8	8516	HP:0001762	Talipes equinovarus
OMIM:191830	ITGA8	8516	HP:0000007	Autosomal recessive inheritance
OMIM:191830	ITGA8	8516	HP:0000369	Low-set ears
OMIM:191830	ITGA8	8516	HP:0000104	Renal agenesis
OMIM:191830	ITGA8	8516	HP:0000093	Proteinuria
OMIM:191830	ITGA8	8516	HP:0003577	Congenital onset
OMIM:191830	ITGA8	8516	HP:0000316	Hypertelorism
OMIM:191830	ITGA8	8516	HP:0001760	Abnormality of the foot
OMIM:191830	ITGA8	8516	HP:0001562	Oligohydramnios
OMIM:191830	ITGA8	8516	HP:0000786	Primary amenorrhea
OMIM:191830	ITGA8	8516	HP:0002089	Pulmonary hypoplasia
OMIM:191830	ITGA8	8516	HP:0000006	Autosomal dominant inheritance
OMIM:191830	ITGA8	8516	HP:0000110	Renal dysplasia
OMIM:191830	ITGA8	8516	HP:0000148	Vaginal atresia
OMIM:191830	ITGA8	8516	HP:0000822	Hypertension
OMIM:191830	ITGA8	8516	HP:0002009	Potter facies
OMIM:191830	ITGA8	8516	HP:0000813	Bicornuate uterus
OMIM:191830	ITGA8	8516	HP:0000278	Retrognathia
OMIM:191830	RET	5979	HP:0001762	Talipes equinovarus
OMIM:191830	RET	5979	HP:0000007	Autosomal recessive inheritance
OMIM:191830	RET	5979	HP:0000369	Low-set ears
OMIM:191830	RET	5979	HP:0000104	Renal agenesis
OMIM:191830	RET	5979	HP:0000093	Proteinuria
OMIM:191830	RET	5979	HP:0003577	Congenital onset
OMIM:191830	RET	5979	HP:0000316	Hypertelorism
OMIM:191830	RET	5979	HP:0001760	Abnormality of the foot
OMIM:191830	RET	5979	HP:0001562	Oligohydramnios
OMIM:191830	RET	5979	HP:0000786	Primary amenorrhea
OMIM:191830	RET	5979	HP:0002089	Pulmonary hypoplasia
OMIM:191830	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:191830	RET	5979	HP:0000110	Renal dysplasia
OMIM:191830	RET	5979	HP:0000148	Vaginal atresia
OMIM:191830	RET	5979	HP:0000822	Hypertension
OMIM:191830	RET	5979	HP:0002009	Potter facies
OMIM:191830	RET	5979	HP:0000813	Bicornuate uterus
OMIM:191830	RET	5979	HP:0000278	Retrognathia
OMIM:241510	ALPL	249	HP:0000897	Rachitic rosary
OMIM:241510	ALPL	249	HP:0002979	Bowing of the legs
OMIM:241510	ALPL	249	HP:0000520	Proptosis
OMIM:241510	ALPL	249	HP:0001024	Skin dimple over apex of long bone angulation
OMIM:241510	ALPL	249	HP:0003282	Low alkaline phosphatase
OMIM:241510	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:241510	ALPL	249	HP:0003198	Myopathy
OMIM:241510	ALPL	249	HP:0003239	Phosphoethanolaminuria
OMIM:241510	ALPL	249	HP:0002515	Waddling gait
OMIM:241510	ALPL	249	HP:0011864	Elevated plasma pyrophosphate
OMIM:241510	ALPL	249	HP:0001363	Craniosynostosis
OMIM:241510	ALPL	249	HP:0000268	Dolichocephaly
OMIM:241510	ALPL	249	HP:0003491	Elevated urine pyrophosphate
OMIM:241510	ALPL	249	HP:0006323	Premature loss of primary teeth
OMIM:241510	ALPL	249	HP:0000670	Carious teeth
OMIM:241510	ALPL	249	HP:0001250	Seizures
OMIM:241510	ALPL	249	HP:0002007	Frontal bossing
OMIM:241510	ALPL	249	HP:0004322	Short stature
OMIM:613767	CNGB1	1258	HP:0007994	Peripheral visual field loss
OMIM:613767	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613767	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613767	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:300299	WAS	7454	HP:0000951	Abnormality of the skin
OMIM:300299	WAS	7454	HP:0005549	Congenital neutropenia
OMIM:300299	WAS	7454	HP:0001419	X-linked recessive inheritance
OMIM:300299	WAS	7454	HP:0002718	Recurrent bacterial infections
OMIM:192315	TREX1	11277	HP:0000726	Dementia
OMIM:192315	TREX1	11277	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:192315	TREX1	11277	HP:0000573	Retinal hemorrhage
OMIM:192315	TREX1	11277	HP:0001250	Seizures
OMIM:192315	TREX1	11277	HP:0001260	Dysarthria
OMIM:192315	TREX1	11277	HP:0001437	Abnormality of the musculature of the lower limbs
OMIM:192315	TREX1	11277	HP:0009763	Limb pain
OMIM:192315	TREX1	11277	HP:0002186	Apraxia
OMIM:192315	TREX1	11277	HP:0001009	Telangiectasia
OMIM:192315	TREX1	11277	HP:0007017	Progressive forgetfulness
OMIM:192315	TREX1	11277	HP:0000093	Proteinuria
OMIM:192315	TREX1	11277	HP:0003581	Adult onset
OMIM:192315	TREX1	11277	HP:0001146	Pigmentary retinal degeneration
OMIM:192315	TREX1	11277	HP:0002395	Lower limb hyperreflexia
OMIM:192315	TREX1	11277	HP:0200030	Punctate vasculitis skin lesions
OMIM:192315	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:192315	TREX1	11277	HP:0200029	Vasculitis in the skin
OMIM:192315	TREX1	11277	HP:0002076	Migraine
OMIM:192315	TREX1	11277	HP:0030880	Raynaud phenomenon
OMIM:192315	TREX1	11277	HP:0003676	Progressive
OMIM:192315	TREX1	11277	HP:0040049	Macular edema
OMIM:192315	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:192315	TREX1	11277	HP:0000505	Visual impairment
OMIM:192315	TREX1	11277	HP:0001147	Retinal exudate
OMIM:192315	TREX1	11277	HP:0000529	Progressive visual loss
OMIM:192315	TREX1	11277	HP:0000708	Behavioral abnormality
OMIM:192315	TREX1	11277	HP:0000790	Hematuria
OMIM:192315	TREX1	11277	HP:0002518	Abnormality of the periventricular white matter
OMIM:192315	TREX1	11277	HP:0007009	Central nervous system degeneration
OMIM:192315	TREX1	11277	HP:0001269	Hemiparesis
OMIM:192315	TREX1	11277	HP:0001297	Stroke
OMIM:255600	COL6A2	1292	HP:0004322	Short stature
OMIM:255600	COL6A2	1292	HP:0001771	Achilles tendon contracture
OMIM:255600	COL6A2	1292	HP:0003676	Progressive
OMIM:255600	COL6A2	1292	HP:0003202	Skeletal muscle atrophy
OMIM:255600	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:255600	COL6A2	1292	HP:0002938	Lumbar hyperlordosis
OMIM:255600	COL6A2	1292	HP:0002944	Thoracolumbar scoliosis
OMIM:255600	COL6A2	1292	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255600	COL6A2	1292	HP:0005952	Decreased pulmonary function
OMIM:255600	COL6A2	1292	HP:0010628	Facial palsy
OMIM:255600	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:255600	COL6A2	1292	HP:0003621	Juvenile onset
OMIM:255600	COL6A2	1292	HP:0005997	Restricted neck movement due to contractures
OMIM:255600	COL6A2	1292	HP:0009025	Increased connective tissue
OMIM:255600	COL6A2	1292	HP:0002460	Distal muscle weakness
OMIM:255600	COL6A2	1292	HP:0003306	Spinal rigidity
OMIM:601152	MFN2	9927	HP:0001761	Pes cavus
OMIM:601152	MFN2	9927	HP:0003693	Distal amyotrophy
OMIM:601152	MFN2	9927	HP:0003409	Distal sensory impairment of all modalities
OMIM:601152	MFN2	9927	HP:0003593	Infantile onset
OMIM:601152	MFN2	9927	HP:0000648	Optic atrophy
OMIM:601152	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:601152	MFN2	9927	HP:0000458	Anosmia
OMIM:601152	MFN2	9927	HP:0002460	Distal muscle weakness
OMIM:601152	MFN2	9927	HP:0007924	Slow decrease in visual acuity
OMIM:601152	MFN2	9927	HP:0003378	Axonal degeneration/regeneration
OMIM:601152	MFN2	9927	HP:0001604	Vocal cord paresis
OMIM:601152	MFN2	9927	HP:0002938	Lumbar hyperlordosis
OMIM:601152	MFN2	9927	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601152	MFN2	9927	HP:0000360	Tinnitus
OMIM:601152	MFN2	9927	HP:0000543	Optic disc pallor
OMIM:601152	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:601152	MFN2	9927	HP:0001284	Areflexia
OMIM:601152	MFN2	9927	HP:0003701	Proximal muscle weakness
OMIM:601152	MFN2	9927	HP:0000007	Autosomal recessive inheritance
OMIM:601152	MFN2	9927	HP:0002403	Positive Romberg sign
OMIM:601152	MFN2	9927	HP:0002650	Scoliosis
OMIM:601152	MFN2	9927	HP:0000603	Central scotoma
OMIM:601152	MFN2	9927	HP:0000006	Autosomal dominant inheritance
OMIM:601152	MFN2	9927	HP:0003376	Steppage gait
OMIM:601152	MFN2	9927	HP:0003690	Limb muscle weakness
OMIM:601152	MFN2	9927	HP:0000641	Dysmetric saccades
OMIM:601152	MFN2	9927	HP:0000649	Abnormality of visual evoked potentials
OMIM:601152	MFN2	9927	HP:0000551	Abnormality of color vision
OMIM:135100	ACVR1	90	HP:0003016	Metaphyseal widening
OMIM:135100	ACVR1	90	HP:0004209	Clinodactyly of the 5th finger
OMIM:135100	ACVR1	90	HP:0001596	Alopecia
OMIM:135100	ACVR1	90	HP:0000006	Autosomal dominant inheritance
OMIM:135100	ACVR1	90	HP:0008449	Progressive cervical vertebral spine fusion
OMIM:135100	ACVR1	90	HP:0001822	Hallux valgus
OMIM:135100	ACVR1	90	HP:0004629	Small cervical vertebral bodies
OMIM:135100	ACVR1	90	HP:0011988	Ectopic ossification in tendon tissue
OMIM:135100	ACVR1	90	HP:0000405	Conductive hearing impairment
OMIM:135100	ACVR1	90	HP:0002878	Respiratory failure
OMIM:135100	ACVR1	90	HP:0002093	Respiratory insufficiency
OMIM:135100	ACVR1	90	HP:0011987	Ectopic ossification in muscle tissue
OMIM:135100	ACVR1	90	HP:0002650	Scoliosis
OMIM:135100	ACVR1	90	HP:0006429	Broad femoral neck
OMIM:135100	ACVR1	90	HP:0010054	Abnormality of the first metatarsal bone
OMIM:135100	ACVR1	90	HP:0000687	Widely spaced teeth
OMIM:135100	ACVR1	90	HP:0000407	Sensorineural hearing impairment
OMIM:135100	ACVR1	90	HP:0010109	Short hallux
OMIM:135100	ACVR1	90	HP:0011989	Ectopic ossification in ligament tissue
OMIM:135100	ACVR1	90	HP:0010034	Short 1st metacarpal
OMIM:614482	SLC33A1	9197	HP:0000007	Autosomal recessive inheritance
OMIM:614482	SLC33A1	9197	HP:0001344	Absent speech
OMIM:614482	SLC33A1	9197	HP:0003429	CNS hypomyelination
OMIM:614482	SLC33A1	9197	HP:0000519	Congenital cataract
OMIM:614482	SLC33A1	9197	HP:0003593	Infantile onset
OMIM:614482	SLC33A1	9197	HP:0001263	Global developmental delay
OMIM:614482	SLC33A1	9197	HP:0000639	Nystagmus
OMIM:614482	SLC33A1	9197	HP:0001290	Generalized hypotonia
OMIM:614482	SLC33A1	9197	HP:0000365	Hearing impairment
OMIM:614482	SLC33A1	9197	HP:0001272	Cerebellar atrophy
OMIM:614482	SLC33A1	9197	HP:0002059	Cerebral atrophy
OMIM:614482	SLC33A1	9197	HP:0010837	Decreased serum ceruloplasmin
OMIM:614482	SLC33A1	9197	HP:0003676	Progressive
OMIM:610313	CLCF1	23529	HP:0007141	Sensorimotor neuropathy
OMIM:610313	CLCF1	23529	HP:0010628	Facial palsy
OMIM:610313	CLCF1	23529	HP:0000218	High palate
OMIM:610313	CLCF1	23529	HP:0000411	Protruding ear
OMIM:610313	CLCF1	23529	HP:0000007	Autosomal recessive inheritance
OMIM:610313	CLCF1	23529	HP:0002938	Lumbar hyperlordosis
OMIM:610313	CLCF1	23529	HP:0030084	Clinodactyly
OMIM:610313	CLCF1	23529	HP:0002944	Thoracolumbar scoliosis
OMIM:610313	CLCF1	23529	HP:0002967	Cubitus valgus
OMIM:610313	CLCF1	23529	HP:0009466	Radial deviation of finger
OMIM:610313	CLCF1	23529	HP:0001377	Limited elbow extension
OMIM:610313	CLCF1	23529	HP:0001760	Abnormality of the foot
OMIM:610313	CLCF1	23529	HP:0008872	Feeding difficulties in infancy
OMIM:610313	CLCF1	23529	HP:0000975	Hyperhidrosis
OMIM:610313	CLCF1	23529	HP:0004691	2-3 toe syndactyly
ORPHA:46627	TFAP2B	7021	HP:0000457	Depressed nasal ridge
ORPHA:46627	TFAP2B	7021	HP:0000232	Everted lower lip vermilion
ORPHA:46627	TFAP2B	7021	HP:0005280	Depressed nasal bridge
ORPHA:46627	TFAP2B	7021	HP:0006159	Mesoaxial hand polydactyly
ORPHA:46627	TFAP2B	7021	HP:0012471	Thick vermilion border
ORPHA:46627	TFAP2B	7021	HP:0000316	Hypertelorism
ORPHA:46627	TFAP2B	7021	HP:0000272	Malar flattening
ORPHA:46627	TFAP2B	7021	HP:0001643	Patent ductus arteriosus
ORPHA:46627	TFAP2B	7021	HP:0004220	Short middle phalanx of the 5th finger
ORPHA:46627	TFAP2B	7021	HP:0004209	Clinodactyly of the 5th finger
ORPHA:46627	TFAP2B	7021	HP:0000508	Ptosis
ORPHA:46627	TFAP2B	7021	HP:0000494	Downslanted palpebral fissures
ORPHA:46627	TFAP2B	7021	HP:0000207	Triangular mouth
ORPHA:46627	TFAP2B	7021	HP:0000322	Short philtrum
OMIM:248390	POLR1C	9533	HP:0000272	Malar flattening
OMIM:248390	POLR1C	9533	HP:0005321	Mandibulofacial dysostosis
OMIM:248390	POLR1C	9533	HP:0000347	Micrognathia
OMIM:248390	POLR1C	9533	HP:0000007	Autosomal recessive inheritance
OMIM:248390	POLR1C	9533	HP:0000652	Lower eyelid coloboma
OMIM:248390	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
OMIM:248390	POLR1C	9533	HP:0000356	Abnormality of the outer ear
OMIM:248390	POLR1C	9533	HP:0000175	Cleft palate
OMIM:188055	F5	2153	HP:0100724	Hypercoagulability
OMIM:188055	F5	2153	HP:0100602	Preeclampsia
OMIM:188055	F5	2153	HP:0002625	Deep venous thrombosis
OMIM:188055	F5	2153	HP:0003581	Adult onset
OMIM:188055	F5	2153	HP:0003645	Prolonged partial thromboplastin time
OMIM:188055	F5	2153	HP:0000006	Autosomal dominant inheritance
OMIM:188055	F5	2153	HP:0012175	Resistance to activated protein C
OMIM:615565	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615565	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615395	MRPL44	65080	HP:0001414	Microvesicular hepatic steatosis
OMIM:615395	MRPL44	65080	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615395	MRPL44	65080	HP:0002910	Elevated hepatic transaminases
OMIM:615395	MRPL44	65080	HP:0003593	Infantile onset
OMIM:615395	MRPL44	65080	HP:0000007	Autosomal recessive inheritance
OMIM:615395	MRPL44	65080	HP:0003828	Variable expressivity
OMIM:615395	MRPL44	65080	HP:0002151	Increased serum lactate
OMIM:231050	ADAMTSL2	9719	HP:0005041	Irregular capital femoral epiphysis
OMIM:231050	ADAMTSL2	9719	HP:0001773	Short foot
OMIM:231050	ADAMTSL2	9719	HP:0006161	Short metacarpals with rounded proximal ends
OMIM:231050	ADAMTSL2	9719	HP:0000007	Autosomal recessive inheritance
OMIM:231050	ADAMTSL2	9719	HP:0002777	Tracheal stenosis
OMIM:231050	ADAMTSL2	9719	HP:0001620	High pitched voice
OMIM:231050	ADAMTSL2	9719	HP:0004279	Short palm
OMIM:231050	ADAMTSL2	9719	HP:0000319	Smooth philtrum
OMIM:231050	ADAMTSL2	9719	HP:0002673	Coxa valga
OMIM:231050	ADAMTSL2	9719	HP:0001250	Seizures
OMIM:231050	ADAMTSL2	9719	HP:0001387	Joint stiffness
OMIM:231050	ADAMTSL2	9719	HP:0002680	J-shaped sella turcica
OMIM:231050	ADAMTSL2	9719	HP:0000154	Wide mouth
OMIM:231050	ADAMTSL2	9719	HP:0001263	Global developmental delay
OMIM:231050	ADAMTSL2	9719	HP:0001635	Congestive heart failure
OMIM:231050	ADAMTSL2	9719	HP:0001718	Mitral stenosis
OMIM:231050	ADAMTSL2	9719	HP:0004322	Short stature
OMIM:231050	ADAMTSL2	9719	HP:0000311	Round face
OMIM:231050	ADAMTSL2	9719	HP:0001072	Thickened skin
OMIM:231050	ADAMTSL2	9719	HP:0003196	Short nose
OMIM:231050	ADAMTSL2	9719	HP:0000938	Osteopenia
OMIM:231050	ADAMTSL2	9719	HP:0000343	Long philtrum
OMIM:231050	ADAMTSL2	9719	HP:0000767	Pectus excavatum
OMIM:231050	ADAMTSL2	9719	HP:0002240	Hepatomegaly
OMIM:231050	ADAMTSL2	9719	HP:0010446	Tricuspid stenosis
OMIM:231050	ADAMTSL2	9719	HP:0001650	Aortic valve stenosis
OMIM:231050	ADAMTSL2	9719	HP:0001792	Small nail
OMIM:231050	ADAMTSL2	9719	HP:0001239	Wrist flexion contracture
OMIM:231050	ADAMTSL2	9719	HP:0100679	Lack of skin elasticity
OMIM:231050	ADAMTSL2	9719	HP:0003026	Short long bone
OMIM:231050	ADAMTSL2	9719	HP:0100490	Camptodactyly of finger
OMIM:231050	ADAMTSL2	9719	HP:0000582	Upslanted palpebral fissure
OMIM:231050	ADAMTSL2	9719	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:231050	ADAMTSL2	9719	HP:0000391	Thickened helices
OMIM:231050	ADAMTSL2	9719	HP:0000463	Anteverted nares
OMIM:147480	ATP8B1	5205	HP:0001622	Premature birth
OMIM:147480	ATP8B1	5205	HP:0000989	Pruritus
OMIM:147480	ATP8B1	5205	HP:0000006	Autosomal dominant inheritance
OMIM:147480	ATP8B1	5205	HP:0200150	Increased serum bile acid concentration during pregnancy
OMIM:147480	ATP8B1	5205	HP:0025116	Fetal distress
OMIM:147480	ATP8B1	5205	HP:0200148	Abnormal liver function tests during pregnancy
OMIM:147480	ATP8B1	5205	HP:0001406	Intrahepatic cholestasis
OMIM:190900	OPN1SW	611	HP:0000552	Tritanomaly
OMIM:190900	OPN1SW	611	HP:0000006	Autosomal dominant inheritance
OMIM:190900	OPN1SW	611	HP:0008275	Abnormal light-adapted electroretinogram
OMIM:613723	PLEC	5339	HP:0001270	Motor delay
OMIM:613723	PLEC	5339	HP:0001371	Flexion contracture
OMIM:613723	PLEC	5339	HP:0002938	Lumbar hyperlordosis
OMIM:613723	PLEC	5339	HP:0003560	Muscular dystrophy
OMIM:613723	PLEC	5339	HP:0003324	Generalized muscle weakness
OMIM:613723	PLEC	5339	HP:0003678	Rapidly progressive
OMIM:613723	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:613723	PLEC	5339	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613723	PLEC	5339	HP:0003551	Difficulty climbing stairs
OMIM:613723	PLEC	5339	HP:0003202	Skeletal muscle atrophy
OMIM:613723	PLEC	5339	HP:0003391	Gowers sign
OMIM:614615	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:614615	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:614615	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614615	C5ORF42	65250	HP:0002883	Hyperventilation
OMIM:614615	C5ORF42	65250	HP:0001251	Ataxia
OMIM:610443	KANSL1	284058	HP:0000750	Delayed speech and language development
OMIM:610443	KANSL1	284058	HP:0002808	Kyphosis
OMIM:610443	KANSL1	284058	HP:0006610	Wide intermamillary distance
OMIM:610443	KANSL1	284058	HP:0000126	Hydronephrosis
OMIM:610443	KANSL1	284058	HP:0001466	Contiguous gene syndrome
OMIM:610443	KANSL1	284058	HP:0001249	Intellectual disability
OMIM:610443	KANSL1	284058	HP:0000194	Open mouth
OMIM:610443	KANSL1	284058	HP:0000964	Eczema
OMIM:610443	KANSL1	284058	HP:0000414	Bulbous nose
OMIM:610443	KANSL1	284058	HP:0001212	Prominent fingertip pads
OMIM:610443	KANSL1	284058	HP:0000540	Hypermetropia
OMIM:610443	KANSL1	284058	HP:0001290	Generalized hypotonia
OMIM:610443	KANSL1	284058	HP:0000400	Macrotia
OMIM:610443	KANSL1	284058	HP:0002465	Poor speech
OMIM:610443	KANSL1	284058	HP:0000687	Widely spaced teeth
OMIM:610443	KANSL1	284058	HP:0000508	Ptosis
OMIM:610443	KANSL1	284058	HP:0001647	Bicuspid aortic valve
OMIM:610443	KANSL1	284058	HP:0001508	Failure to thrive
OMIM:610443	KANSL1	284058	HP:0100024	Conspicuously happy disposition
OMIM:610443	KANSL1	284058	HP:0000164	Abnormality of the dentition
OMIM:610443	KANSL1	284058	HP:0000337	Broad forehead
OMIM:610443	KANSL1	284058	HP:0001263	Global developmental delay
OMIM:610443	KANSL1	284058	HP:0000204	Cleft upper lip
OMIM:610443	KANSL1	284058	HP:0002650	Scoliosis
OMIM:610443	KANSL1	284058	HP:0040080	Anteverted ears
OMIM:610443	KANSL1	284058	HP:0000218	High palate
OMIM:610443	KANSL1	284058	HP:0008872	Feeding difficulties in infancy
OMIM:610443	KANSL1	284058	HP:0001238	Slender finger
OMIM:610443	KANSL1	284058	HP:0003828	Variable expressivity
OMIM:610443	KANSL1	284058	HP:0001631	Atrial septal defect
OMIM:610443	KANSL1	284058	HP:0006006	Hypotrophy of the small hand muscles
OMIM:610443	KANSL1	284058	HP:0005656	Positional foot deformity
OMIM:610443	KANSL1	284058	HP:0001642	Pulmonic stenosis
OMIM:610443	KANSL1	284058	HP:0000348	High forehead
OMIM:610443	KANSL1	284058	HP:0004283	Narrow palm
OMIM:610443	KANSL1	284058	HP:0000447	Pear-shaped nose
OMIM:610443	KANSL1	284058	HP:0010719	Abnormality of hair texture
OMIM:610443	KANSL1	284058	HP:0001511	Intrauterine growth retardation
OMIM:610443	KANSL1	284058	HP:0000486	Strabismus
OMIM:610443	KANSL1	284058	HP:0000076	Vesicoureteral reflux
OMIM:610443	KANSL1	284058	HP:0001385	Hip dysplasia
OMIM:610443	KANSL1	284058	HP:0003745	Sporadic
OMIM:610443	KANSL1	284058	HP:0001611	Nasal speech
OMIM:610443	KANSL1	284058	HP:0000006	Autosomal dominant inheritance
OMIM:610443	KANSL1	284058	HP:0000232	Everted lower lip vermilion
OMIM:610443	KANSL1	284058	HP:0000189	Narrow palate
OMIM:610443	KANSL1	284058	HP:0000581	Blepharophimosis
OMIM:610443	KANSL1	284058	HP:0000960	Sacral dimple
OMIM:610443	KANSL1	284058	HP:0000582	Upslanted palpebral fissure
OMIM:610443	KANSL1	284058	HP:0001382	Joint hypermobility
OMIM:610443	KANSL1	284058	HP:0009887	Abnormality of hair pigmentation
OMIM:610443	KANSL1	284058	HP:0000286	Epicanthus
OMIM:610443	KANSL1	284058	HP:0000396	Overfolded helix
OMIM:610443	KANSL1	284058	HP:0002827	Hip dislocation
OMIM:610443	KANSL1	284058	HP:0000426	Prominent nasal bridge
OMIM:610443	KANSL1	284058	HP:0000958	Dry skin
OMIM:610443	KANSL1	284058	HP:0001629	Ventricular septal defect
OMIM:610799	IRAK4	51135	HP:0000007	Autosomal recessive inheritance
OMIM:610799	IRAK4	51135	HP:0005366	Recurrent streptococcus pneumoniae infections
ORPHA:314811	GHSR	2693	HP:0001946	Ketosis
ORPHA:314811	GHSR	2693	HP:0002013	Vomiting
ORPHA:314811	GHSR	2693	HP:0004322	Short stature
ORPHA:314811	GHSR	2693	HP:0001943	Hypoglycemia
ORPHA:314811	GHSR	2693	HP:0004325	Decreased body weight
ORPHA:314811	GHSR	2693	HP:0030353	Decreased serum insulin-like growth factor 1
ORPHA:314811	GHSR	2693	HP:0002027	Abdominal pain
ORPHA:314811	GHSR	2693	HP:0002750	Delayed skeletal maturation
OMIM:607136	TBP	6908	HP:0001272	Cerebellar atrophy
OMIM:607136	TBP	6908	HP:0002171	Gliosis
OMIM:607136	TBP	6908	HP:0000716	Depressivity
OMIM:607136	TBP	6908	HP:0000757	Lack of insight
OMIM:607136	TBP	6908	HP:0001310	Dysmetria
OMIM:607136	TBP	6908	HP:0002403	Positive Romberg sign
OMIM:607136	TBP	6908	HP:0000020	Urinary incontinence
OMIM:607136	TBP	6908	HP:0002300	Mutism
OMIM:607136	TBP	6908	HP:0000640	Gaze-evoked nystagmus
OMIM:607136	TBP	6908	HP:0002066	Gait ataxia
OMIM:607136	TBP	6908	HP:0011999	Paranoia
OMIM:607136	TBP	6908	HP:0001300	Parkinsonism
OMIM:607136	TBP	6908	HP:0002080	Intention tremor
OMIM:607136	TBP	6908	HP:0000738	Hallucinations
OMIM:607136	TBP	6908	HP:0002063	Rigidity
OMIM:607136	TBP	6908	HP:0007668	Impaired pursuit initiation and maintenance
OMIM:607136	TBP	6908	HP:0001260	Dysarthria
OMIM:607136	TBP	6908	HP:0001332	Dystonia
OMIM:607136	TBP	6908	HP:0002070	Limb ataxia
OMIM:607136	TBP	6908	HP:0001289	Confusion
OMIM:607136	TBP	6908	HP:0002015	Dysphagia
OMIM:607136	TBP	6908	HP:0000743	Frontal release signs
OMIM:607136	TBP	6908	HP:0000718	Aggressive behavior
OMIM:607136	TBP	6908	HP:0000727	Frontal lobe dementia
OMIM:607136	TBP	6908	HP:0002136	Broad-based gait
OMIM:607136	TBP	6908	HP:0002529	Neuronal loss in central nervous system
OMIM:607136	TBP	6908	HP:0000006	Autosomal dominant inheritance
OMIM:607136	TBP	6908	HP:0002506	Diffuse cerebral atrophy
OMIM:607136	TBP	6908	HP:0001336	Myoclonus
OMIM:607136	TBP	6908	HP:0002067	Bradykinesia
OMIM:607136	TBP	6908	HP:0002072	Chorea
OMIM:607136	TBP	6908	HP:0001250	Seizures
OMIM:607136	TBP	6908	HP:0002186	Apraxia
OMIM:607136	TBP	6908	HP:0003676	Progressive
OMIM:248250	CLDN16	10686	HP:0003621	Juvenile onset
OMIM:248250	CLDN16	10686	HP:0012622	Chronic kidney disease
OMIM:248250	CLDN16	10686	HP:0000007	Autosomal recessive inheritance
OMIM:248250	CLDN16	10686	HP:0000103	Polyuria
OMIM:248250	CLDN16	10686	HP:0001281	Tetany
OMIM:248250	CLDN16	10686	HP:0002027	Abdominal pain
OMIM:248250	CLDN16	10686	HP:0000121	Nephrocalcinosis
OMIM:248250	CLDN16	10686	HP:0008872	Feeding difficulties in infancy
OMIM:248250	CLDN16	10686	HP:0001250	Seizures
OMIM:248250	CLDN16	10686	HP:0001947	Renal tubular acidosis
OMIM:248250	CLDN16	10686	HP:0012637	Renal calcium wasting
OMIM:248250	CLDN16	10686	HP:0012405	Hypocitraturia
OMIM:248250	CLDN16	10686	HP:0012608	Hypermagnesiuria
OMIM:248250	CLDN16	10686	HP:0002917	Hypomagnesemia
OMIM:248250	CLDN16	10686	HP:0002150	Hypercalciuria
OMIM:248250	CLDN16	10686	HP:0000483	Astigmatism
OMIM:248250	CLDN16	10686	HP:0000010	Recurrent urinary tract infections
OMIM:248250	CLDN16	10686	HP:0001959	Polydipsia
OMIM:248250	CLDN16	10686	HP:0000545	Myopia
OMIM:248250	CLDN16	10686	HP:0000787	Nephrolithiasis
OMIM:248250	CLDN16	10686	HP:0000486	Strabismus
OMIM:248250	CLDN16	10686	HP:0002149	Hyperuricemia
OMIM:248250	CLDN16	10686	HP:0000790	Hematuria
OMIM:248250	CLDN16	10686	HP:0001508	Failure to thrive
OMIM:248250	CLDN16	10686	HP:0000639	Nystagmus
OMIM:248250	CLDN16	10686	HP:0000540	Hypermetropia
OMIM:248250	CLDN16	10686	HP:0005567	Renal magnesium wasting
OMIM:158580	SLC5A7	60482	HP:0002355	Difficulty walking
OMIM:158580	SLC5A7	60482	HP:0003677	Slow progression
OMIM:158580	SLC5A7	60482	HP:0000006	Autosomal dominant inheritance
OMIM:158580	SLC5A7	60482	HP:0001605	Vocal cord paralysis
OMIM:158580	SLC5A7	60482	HP:0003693	Distal amyotrophy
OMIM:158580	SLC5A7	60482	HP:0009830	Peripheral neuropathy
OMIM:158580	SLC5A7	60482	HP:0001761	Pes cavus
OMIM:158580	SLC5A7	60482	HP:0002460	Distal muscle weakness
OMIM:158580	SLC5A7	60482	HP:0001604	Vocal cord paresis
OMIM:158580	SLC5A7	60482	HP:0003674	Onset
OMIM:158580	SLC5A7	60482	HP:0001265	Hyporeflexia
OMIM:613757	RAX2	84839	HP:0000608	Macular degeneration
OMIM:610282	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610282	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610282	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SEMA4A	64218	HP:0000618	Blindness
OMIM:610282	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
ORPHA:171836	FAM20A	54757	HP:0000684	Delayed eruption of teeth
ORPHA:171836	FAM20A	54757	HP:0000169	Gingival fibromatosis
ORPHA:171836	FAM20A	54757	HP:0001482	Subcutaneous nodule
ORPHA:171836	FAM20A	54757	HP:0000705	Amelogenesis imperfecta
ORPHA:171836	FAM20A	54757	HP:0001249	Intellectual disability
ORPHA:171836	FAM20A	54757	HP:0003771	Pulp stones
OMIM:210250	ABCG5	64240	HP:0000007	Autosomal recessive inheritance
OMIM:210250	ABCG5	64240	HP:0001744	Splenomegaly
OMIM:210250	ABCG5	64240	HP:0004929	Coronary atherosclerosis
OMIM:210250	ABCG5	64240	HP:0002027	Abdominal pain
OMIM:210250	ABCG5	64240	HP:0004446	Stomatocytosis
OMIM:210250	ABCG5	64240	HP:0003540	Impaired platelet aggregation
OMIM:210250	ABCG5	64240	HP:0003124	Hypercholesterolemia
OMIM:210250	ABCG5	64240	HP:0004870	Chronic hemolytic anemia
OMIM:210250	ABCG5	64240	HP:0008158	Hyperapobetalipoproteinemia
OMIM:210250	ABCG5	64240	HP:0001892	Abnormal bleeding
OMIM:210250	ABCG5	64240	HP:0001923	Reticulocytosis
OMIM:210250	ABCG5	64240	HP:0001392	Abnormality of the liver
OMIM:210250	ABCG5	64240	HP:0001574	Abnormality of the integument
OMIM:210250	ABCG5	64240	HP:0001902	Giant platelets
OMIM:210250	ABCG5	64240	HP:0002829	Arthralgia
OMIM:210250	ABCG5	64240	HP:0001369	Arthritis
OMIM:210250	ABCG5	64240	HP:0004802	Episodic hemolytic anemia
OMIM:210250	ABCG8	64241	HP:0000007	Autosomal recessive inheritance
OMIM:210250	ABCG8	64241	HP:0001744	Splenomegaly
OMIM:210250	ABCG8	64241	HP:0004929	Coronary atherosclerosis
OMIM:210250	ABCG8	64241	HP:0002027	Abdominal pain
OMIM:210250	ABCG8	64241	HP:0004446	Stomatocytosis
OMIM:210250	ABCG8	64241	HP:0003540	Impaired platelet aggregation
OMIM:210250	ABCG8	64241	HP:0003124	Hypercholesterolemia
OMIM:210250	ABCG8	64241	HP:0004870	Chronic hemolytic anemia
OMIM:210250	ABCG8	64241	HP:0008158	Hyperapobetalipoproteinemia
OMIM:210250	ABCG8	64241	HP:0001892	Abnormal bleeding
OMIM:210250	ABCG8	64241	HP:0001923	Reticulocytosis
OMIM:210250	ABCG8	64241	HP:0001392	Abnormality of the liver
OMIM:210250	ABCG8	64241	HP:0001574	Abnormality of the integument
OMIM:210250	ABCG8	64241	HP:0001902	Giant platelets
OMIM:210250	ABCG8	64241	HP:0002829	Arthralgia
OMIM:210250	ABCG8	64241	HP:0001369	Arthritis
OMIM:210250	ABCG8	64241	HP:0004802	Episodic hemolytic anemia
OMIM:616266	NALCN	259232	HP:0002803	Congenital contracture
OMIM:616266	NALCN	259232	HP:0000293	Full cheeks
OMIM:616266	NALCN	259232	HP:0001537	Umbilical hernia
OMIM:616266	NALCN	259232	HP:0002000	Short columella
OMIM:616266	NALCN	259232	HP:0000750	Delayed speech and language development
OMIM:616266	NALCN	259232	HP:0000023	Inguinal hernia
OMIM:616266	NALCN	259232	HP:0012385	Camptodactyly
OMIM:616266	NALCN	259232	HP:0003273	Hip contracture
OMIM:616266	NALCN	259232	HP:0000431	Wide nasal bridge
OMIM:616266	NALCN	259232	HP:0000347	Micrognathia
OMIM:616266	NALCN	259232	HP:0001181	Adducted thumb
OMIM:616266	NALCN	259232	HP:0001290	Generalized hypotonia
OMIM:616266	NALCN	259232	HP:0002093	Respiratory insufficiency
OMIM:616266	NALCN	259232	HP:0000343	Long philtrum
OMIM:616266	NALCN	259232	HP:0009931	Enlarged naris
OMIM:616266	NALCN	259232	HP:0002987	Elbow flexion contracture
OMIM:616266	NALCN	259232	HP:0000006	Autosomal dominant inheritance
OMIM:616266	NALCN	259232	HP:0000205	Pursed lips
OMIM:616266	NALCN	259232	HP:0001263	Global developmental delay
OMIM:616266	NALCN	259232	HP:0000470	Short neck
OMIM:616266	NALCN	259232	HP:0003577	Congenital onset
OMIM:616266	NALCN	259232	HP:0006380	Knee flexion contracture
ORPHA:33110	BLNK	29760	HP:0001369	Arthritis
ORPHA:33110	BLNK	29760	HP:0012735	Cough
ORPHA:33110	BLNK	29760	HP:0002205	Recurrent respiratory infections
ORPHA:33110	BLNK	29760	HP:0002721	Immunodeficiency
ORPHA:33110	BLNK	29760	HP:0002754	Osteomyelitis
ORPHA:33110	BLNK	29760	HP:0000389	Chronic otitis media
ORPHA:33110	BLNK	29760	HP:0004432	Agammaglobulinemia
ORPHA:33110	BLNK	29760	HP:0000988	Skin rash
ORPHA:33110	BLNK	29760	HP:0000246	Sinusitis
ORPHA:33110	BLNK	29760	HP:0000509	Conjunctivitis
ORPHA:33110	BLNK	29760	HP:0002014	Diarrhea
ORPHA:33110	BLNK	29760	HP:0001508	Failure to thrive
ORPHA:33110	BLNK	29760	HP:0001945	Fever
ORPHA:33110	BLNK	29760	HP:0012378	Fatigue
ORPHA:33110	BLNK	29760	HP:0001581	Recurrent skin infections
ORPHA:33110	TCF3	6929	HP:0001369	Arthritis
ORPHA:33110	TCF3	6929	HP:0012735	Cough
ORPHA:33110	TCF3	6929	HP:0002205	Recurrent respiratory infections
ORPHA:33110	TCF3	6929	HP:0002721	Immunodeficiency
ORPHA:33110	TCF3	6929	HP:0002754	Osteomyelitis
ORPHA:33110	TCF3	6929	HP:0000389	Chronic otitis media
ORPHA:33110	TCF3	6929	HP:0004432	Agammaglobulinemia
ORPHA:33110	TCF3	6929	HP:0000988	Skin rash
ORPHA:33110	TCF3	6929	HP:0000246	Sinusitis
ORPHA:33110	TCF3	6929	HP:0000509	Conjunctivitis
ORPHA:33110	TCF3	6929	HP:0002014	Diarrhea
ORPHA:33110	TCF3	6929	HP:0001508	Failure to thrive
ORPHA:33110	TCF3	6929	HP:0001945	Fever
ORPHA:33110	TCF3	6929	HP:0012378	Fatigue
ORPHA:33110	TCF3	6929	HP:0001581	Recurrent skin infections
ORPHA:33110	IGHM	3507	HP:0001369	Arthritis
ORPHA:33110	IGHM	3507	HP:0012735	Cough
ORPHA:33110	IGHM	3507	HP:0002205	Recurrent respiratory infections
ORPHA:33110	IGHM	3507	HP:0002721	Immunodeficiency
ORPHA:33110	IGHM	3507	HP:0002754	Osteomyelitis
ORPHA:33110	IGHM	3507	HP:0000389	Chronic otitis media
ORPHA:33110	IGHM	3507	HP:0004432	Agammaglobulinemia
ORPHA:33110	IGHM	3507	HP:0000988	Skin rash
ORPHA:33110	IGHM	3507	HP:0000246	Sinusitis
ORPHA:33110	IGHM	3507	HP:0000509	Conjunctivitis
ORPHA:33110	IGHM	3507	HP:0002014	Diarrhea
ORPHA:33110	IGHM	3507	HP:0001508	Failure to thrive
ORPHA:33110	IGHM	3507	HP:0001945	Fever
ORPHA:33110	IGHM	3507	HP:0012378	Fatigue
ORPHA:33110	IGHM	3507	HP:0001581	Recurrent skin infections
ORPHA:33110	LRRC8A	56262	HP:0001369	Arthritis
ORPHA:33110	LRRC8A	56262	HP:0012735	Cough
ORPHA:33110	LRRC8A	56262	HP:0002205	Recurrent respiratory infections
ORPHA:33110	LRRC8A	56262	HP:0002721	Immunodeficiency
ORPHA:33110	LRRC8A	56262	HP:0002754	Osteomyelitis
ORPHA:33110	LRRC8A	56262	HP:0000389	Chronic otitis media
ORPHA:33110	LRRC8A	56262	HP:0004432	Agammaglobulinemia
ORPHA:33110	LRRC8A	56262	HP:0000988	Skin rash
ORPHA:33110	LRRC8A	56262	HP:0000246	Sinusitis
ORPHA:33110	LRRC8A	56262	HP:0000509	Conjunctivitis
ORPHA:33110	LRRC8A	56262	HP:0002014	Diarrhea
ORPHA:33110	LRRC8A	56262	HP:0001508	Failure to thrive
ORPHA:33110	LRRC8A	56262	HP:0001945	Fever
ORPHA:33110	LRRC8A	56262	HP:0012378	Fatigue
ORPHA:33110	LRRC8A	56262	HP:0001581	Recurrent skin infections
ORPHA:33110	IGLL1	3543	HP:0001369	Arthritis
ORPHA:33110	IGLL1	3543	HP:0012735	Cough
ORPHA:33110	IGLL1	3543	HP:0002205	Recurrent respiratory infections
ORPHA:33110	IGLL1	3543	HP:0002721	Immunodeficiency
ORPHA:33110	IGLL1	3543	HP:0002754	Osteomyelitis
ORPHA:33110	IGLL1	3543	HP:0000389	Chronic otitis media
ORPHA:33110	IGLL1	3543	HP:0004432	Agammaglobulinemia
ORPHA:33110	IGLL1	3543	HP:0000988	Skin rash
ORPHA:33110	IGLL1	3543	HP:0000246	Sinusitis
ORPHA:33110	IGLL1	3543	HP:0000509	Conjunctivitis
ORPHA:33110	IGLL1	3543	HP:0002014	Diarrhea
ORPHA:33110	IGLL1	3543	HP:0001508	Failure to thrive
ORPHA:33110	IGLL1	3543	HP:0001945	Fever
ORPHA:33110	IGLL1	3543	HP:0012378	Fatigue
ORPHA:33110	IGLL1	3543	HP:0001581	Recurrent skin infections
ORPHA:33110	CD79A	973	HP:0001369	Arthritis
ORPHA:33110	CD79A	973	HP:0012735	Cough
ORPHA:33110	CD79A	973	HP:0002205	Recurrent respiratory infections
ORPHA:33110	CD79A	973	HP:0002721	Immunodeficiency
ORPHA:33110	CD79A	973	HP:0002754	Osteomyelitis
ORPHA:33110	CD79A	973	HP:0000389	Chronic otitis media
ORPHA:33110	CD79A	973	HP:0004432	Agammaglobulinemia
ORPHA:33110	CD79A	973	HP:0000988	Skin rash
ORPHA:33110	CD79A	973	HP:0000246	Sinusitis
ORPHA:33110	CD79A	973	HP:0000509	Conjunctivitis
ORPHA:33110	CD79A	973	HP:0002014	Diarrhea
ORPHA:33110	CD79A	973	HP:0001508	Failure to thrive
ORPHA:33110	CD79A	973	HP:0001945	Fever
ORPHA:33110	CD79A	973	HP:0012378	Fatigue
ORPHA:33110	CD79A	973	HP:0001581	Recurrent skin infections
ORPHA:33110	CD79B	974	HP:0001369	Arthritis
ORPHA:33110	CD79B	974	HP:0012735	Cough
ORPHA:33110	CD79B	974	HP:0002205	Recurrent respiratory infections
ORPHA:33110	CD79B	974	HP:0002721	Immunodeficiency
ORPHA:33110	CD79B	974	HP:0002754	Osteomyelitis
ORPHA:33110	CD79B	974	HP:0000389	Chronic otitis media
ORPHA:33110	CD79B	974	HP:0004432	Agammaglobulinemia
ORPHA:33110	CD79B	974	HP:0000988	Skin rash
ORPHA:33110	CD79B	974	HP:0000246	Sinusitis
ORPHA:33110	CD79B	974	HP:0000509	Conjunctivitis
ORPHA:33110	CD79B	974	HP:0002014	Diarrhea
ORPHA:33110	CD79B	974	HP:0001508	Failure to thrive
ORPHA:33110	CD79B	974	HP:0001945	Fever
ORPHA:33110	CD79B	974	HP:0012378	Fatigue
ORPHA:33110	CD79B	974	HP:0001581	Recurrent skin infections
ORPHA:33110	PIK3R1	5295	HP:0001369	Arthritis
ORPHA:33110	PIK3R1	5295	HP:0012735	Cough
ORPHA:33110	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
ORPHA:33110	PIK3R1	5295	HP:0002721	Immunodeficiency
ORPHA:33110	PIK3R1	5295	HP:0002754	Osteomyelitis
ORPHA:33110	PIK3R1	5295	HP:0000389	Chronic otitis media
ORPHA:33110	PIK3R1	5295	HP:0004432	Agammaglobulinemia
ORPHA:33110	PIK3R1	5295	HP:0000988	Skin rash
ORPHA:33110	PIK3R1	5295	HP:0000246	Sinusitis
ORPHA:33110	PIK3R1	5295	HP:0000509	Conjunctivitis
ORPHA:33110	PIK3R1	5295	HP:0002014	Diarrhea
ORPHA:33110	PIK3R1	5295	HP:0001508	Failure to thrive
ORPHA:33110	PIK3R1	5295	HP:0001945	Fever
ORPHA:33110	PIK3R1	5295	HP:0012378	Fatigue
ORPHA:33110	PIK3R1	5295	HP:0001581	Recurrent skin infections
OMIM:610204	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:610204	TSEN54	283989	HP:0006955	Olivopontocerebellar hypoplasia
OMIM:610204	TSEN54	283989	HP:0001250	Seizures
OMIM:610204	TSEN54	283989	HP:0000252	Microcephaly
OMIM:610204	TSEN54	283989	HP:0003577	Congenital onset
ORPHA:1848	ITGA8	8516	HP:0002242	Abnormality of the intestine
ORPHA:1848	ITGA8	8516	HP:0000369	Low-set ears
ORPHA:1848	ITGA8	8516	HP:0001563	Fetal polyuria
ORPHA:1848	ITGA8	8516	HP:0001958	Nonketotic hypoglycemia
ORPHA:1848	ITGA8	8516	HP:0000457	Depressed nasal ridge
ORPHA:1848	ITGA8	8516	HP:0000104	Renal agenesis
ORPHA:1848	ITGA8	8516	HP:0002089	Pulmonary hypoplasia
ORPHA:1848	ITGA8	8516	HP:0005107	Abnormality of the sacrum
ORPHA:1848	ITGA8	8516	HP:0000316	Hypertelorism
ORPHA:1848	ITGA8	8516	HP:0002575	Tracheoesophageal fistula
ORPHA:1848	ITGA8	8516	HP:0000286	Epicanthus
ORPHA:1848	ITGA8	8516	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1848	ITGA8	8516	HP:0100589	Urogenital fistula
ORPHA:1848	ITGA8	8516	HP:0001562	Oligohydramnios
ORPHA:1848	FGF20	26281	HP:0002242	Abnormality of the intestine
ORPHA:1848	FGF20	26281	HP:0000369	Low-set ears
ORPHA:1848	FGF20	26281	HP:0001563	Fetal polyuria
ORPHA:1848	FGF20	26281	HP:0001958	Nonketotic hypoglycemia
ORPHA:1848	FGF20	26281	HP:0000457	Depressed nasal ridge
ORPHA:1848	FGF20	26281	HP:0000104	Renal agenesis
ORPHA:1848	FGF20	26281	HP:0002089	Pulmonary hypoplasia
ORPHA:1848	FGF20	26281	HP:0005107	Abnormality of the sacrum
ORPHA:1848	FGF20	26281	HP:0000316	Hypertelorism
ORPHA:1848	FGF20	26281	HP:0002575	Tracheoesophageal fistula
ORPHA:1848	FGF20	26281	HP:0000286	Epicanthus
ORPHA:1848	FGF20	26281	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1848	FGF20	26281	HP:0100589	Urogenital fistula
ORPHA:1848	FGF20	26281	HP:0001562	Oligohydramnios
ORPHA:1848	RET	5979	HP:0002242	Abnormality of the intestine
ORPHA:1848	RET	5979	HP:0000369	Low-set ears
ORPHA:1848	RET	5979	HP:0001563	Fetal polyuria
ORPHA:1848	RET	5979	HP:0001958	Nonketotic hypoglycemia
ORPHA:1848	RET	5979	HP:0000457	Depressed nasal ridge
ORPHA:1848	RET	5979	HP:0000104	Renal agenesis
ORPHA:1848	RET	5979	HP:0002089	Pulmonary hypoplasia
ORPHA:1848	RET	5979	HP:0005107	Abnormality of the sacrum
ORPHA:1848	RET	5979	HP:0000316	Hypertelorism
ORPHA:1848	RET	5979	HP:0002575	Tracheoesophageal fistula
ORPHA:1848	RET	5979	HP:0000286	Epicanthus
ORPHA:1848	RET	5979	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1848	RET	5979	HP:0100589	Urogenital fistula
ORPHA:1848	RET	5979	HP:0001562	Oligohydramnios
OMIM:607115	NLRP3	114548	HP:0001510	Growth delay
OMIM:607115	NLRP3	114548	HP:0000408	Progressive sensorineural hearing impairment
OMIM:607115	NLRP3	114548	HP:0002007	Frontal bossing
OMIM:607115	NLRP3	114548	HP:0000520	Proptosis
OMIM:607115	NLRP3	114548	HP:0001945	Fever
OMIM:607115	NLRP3	114548	HP:0000006	Autosomal dominant inheritance
OMIM:153550	RPS14	6208	HP:0001452	Autosomal dominant contiguous gene syndrome
OMIM:153550	RPS14	6208	HP:0012133	Erythroid hypoplasia
OMIM:153550	RPS14	6208	HP:0001428	Somatic mutation
OMIM:153550	RPS14	6208	HP:0002863	Myelodysplasia
OMIM:153550	RPS14	6208	HP:0012143	Abnormality of cells of the megakaryocyte lineage
OMIM:153550	RPS14	6208	HP:0003745	Sporadic
OMIM:153550	RPS14	6208	HP:0004861	Refractory macrocytic anemia
OMIM:615374	RAB28	9364	HP:0011003	Severe Myopia
OMIM:615374	RAB28	9364	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RAB28	9364	HP:0000603	Central scotoma
OMIM:615374	RAB28	9364	HP:0000007	Autosomal recessive inheritance
ORPHA:36	GLI3	2737	HP:0010864	Intellectual disability, severe
ORPHA:36	GLI3	2737	HP:0001162	Postaxial hand polydactyly
ORPHA:36	GLI3	2737	HP:0000256	Macrocephaly
ORPHA:36	GLI3	2737	HP:0000269	Prominent occiput
ORPHA:36	GLI3	2737	HP:0000340	Sloping forehead
ORPHA:36	GLI3	2737	HP:0000316	Hypertelorism
ORPHA:36	GLI3	2737	HP:0001199	Triphalangeal thumb
ORPHA:36	GLI3	2737	HP:0001305	Dandy-Walker malformation
ORPHA:36	GLI3	2737	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:36	KIF7	374654	HP:0010864	Intellectual disability, severe
ORPHA:36	KIF7	374654	HP:0001162	Postaxial hand polydactyly
ORPHA:36	KIF7	374654	HP:0000256	Macrocephaly
ORPHA:36	KIF7	374654	HP:0000269	Prominent occiput
ORPHA:36	KIF7	374654	HP:0000340	Sloping forehead
ORPHA:36	KIF7	374654	HP:0000316	Hypertelorism
ORPHA:36	KIF7	374654	HP:0001199	Triphalangeal thumb
ORPHA:36	KIF7	374654	HP:0001305	Dandy-Walker malformation
ORPHA:36	KIF7	374654	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:207750	APOC2	344	HP:0000007	Autosomal recessive inheritance
OMIM:207750	APOC2	344	HP:0001744	Splenomegaly
OMIM:207750	APOC2	344	HP:0002155	Hypertriglyceridemia
OMIM:207750	APOC2	344	HP:0002240	Hepatomegaly
OMIM:207750	APOC2	344	HP:0001013	Eruptive xanthomas
OMIM:207750	APOC2	344	HP:0000660	Lipemia retinalis
OMIM:207750	APOC2	344	HP:0001733	Pancreatitis
ORPHA:85169	TRPV4	59341	HP:0001156	Brachydactyly
ORPHA:85169	TRPV4	59341	HP:0009882	Short distal phalanx of finger
ORPHA:85169	TRPV4	59341	HP:0006239	Shortening of all middle phalanges of the toes
ORPHA:85169	TRPV4	59341	HP:0005819	Short middle phalanx of finger
ORPHA:85169	TRPV4	59341	HP:0005793	Shortening of all distal phalanges of the toes
ORPHA:85169	TRPV4	59341	HP:0004268	Osteoarthritis of the small joints of the hand
ORPHA:96147	EHMT1	79813	HP:0011097	Epileptic spasms
ORPHA:96147	EHMT1	79813	HP:0001513	Obesity
ORPHA:96147	EHMT1	79813	HP:0000717	Autism
ORPHA:96147	EHMT1	79813	HP:0001671	Abnormality of the cardiac septa
ORPHA:96147	EHMT1	79813	HP:0001328	Specific learning disability
ORPHA:96147	EHMT1	79813	HP:0002381	Aphasia
ORPHA:96147	EHMT1	79813	HP:0001263	Global developmental delay
ORPHA:96147	EHMT1	79813	HP:0002714	Downturned corners of mouth
ORPHA:96147	EHMT1	79813	HP:0001252	Muscular hypotonia
ORPHA:96147	EHMT1	79813	HP:0000252	Microcephaly
ORPHA:96147	EHMT1	79813	HP:0003196	Short nose
ORPHA:96147	EHMT1	79813	HP:0000664	Synophrys
ORPHA:96147	EHMT1	79813	HP:0010808	Protruding tongue
ORPHA:96147	EHMT1	79813	HP:0000248	Brachycephaly
ORPHA:96147	EHMT1	79813	HP:0011800	Midface retrusion
ORPHA:96147	EHMT1	79813	HP:0002300	Mutism
ORPHA:96147	EHMT1	79813	HP:0010529	Echolalia
ORPHA:96147	EHMT1	79813	HP:0000232	Everted lower lip vermilion
ORPHA:96147	EHMT1	79813	HP:0002133	Status epilepticus
ORPHA:96147	EHMT1	79813	HP:0002357	Dysphasia
ORPHA:96147	EHMT1	79813	HP:0000316	Hypertelorism
ORPHA:96147	EHMT1	79813	HP:0002553	Highly arched eyebrow
ORPHA:96147	EHMT1	79813	HP:0005469	Flat occiput
ORPHA:96147	EHMT1	79813	HP:0000158	Macroglossia
ORPHA:96147	EHMT1	79813	HP:0000028	Cryptorchidism
ORPHA:96147	EHMT1	79813	HP:0000463	Anteverted nares
ORPHA:96147	EHMT1	79813	HP:0001249	Intellectual disability
ORPHA:96147	EHMT1	79813	HP:0002121	Absence seizures
OMIM:611818	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:611818	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:611818	CAV3	859	HP:0004308	Ventricular arrhythmia
ORPHA:31150	ABCA1	19	HP:0001433	Hepatosplenomegaly
ORPHA:31150	ABCA1	19	HP:0002027	Abdominal pain
ORPHA:31150	ABCA1	19	HP:0008404	Nail dystrophy
ORPHA:31150	ABCA1	19	HP:0000656	Ectropion
ORPHA:31150	ABCA1	19	HP:0002155	Hypertriglyceridemia
ORPHA:31150	ABCA1	19	HP:0007133	Progressive peripheral neuropathy
ORPHA:31150	ABCA1	19	HP:0003477	Peripheral axonal neuropathy
ORPHA:31150	ABCA1	19	HP:0005145	Coronary artery stenosis
ORPHA:31150	ABCA1	19	HP:0002460	Distal muscle weakness
ORPHA:31150	ABCA1	19	HP:0002730	Chronic noninfectious lymphadenopathy
ORPHA:31150	ABCA1	19	HP:0000958	Dry skin
ORPHA:31150	ABCA1	19	HP:0004943	Accelerated atherosclerosis
ORPHA:31150	ABCA1	19	HP:0003146	Hypocholesterolemia
ORPHA:31150	ABCA1	19	HP:0030814	Orange discoloured tonsils
OMIM:614468	PLCG2	5336	HP:0001025	Urticaria
OMIM:614468	PLCG2	5336	HP:0002958	Immune dysregulation
OMIM:614468	PLCG2	5336	HP:0000006	Autosomal dominant inheritance
OMIM:614468	PLCG2	5336	HP:0002719	Recurrent infections
OMIM:614468	PLCG2	5336	HP:0000872	Hashimoto thyroiditis
OMIM:614468	PLCG2	5336	HP:0003193	Allergic rhinitis
OMIM:614468	PLCG2	5336	HP:0001045	Vitiligo
OMIM:615074	GATAD2B	57459	HP:0000490	Deeply set eye
OMIM:615074	GATAD2B	57459	HP:0000316	Hypertelorism
OMIM:615074	GATAD2B	57459	HP:0000006	Autosomal dominant inheritance
OMIM:615074	GATAD2B	57459	HP:0003593	Infantile onset
OMIM:615074	GATAD2B	57459	HP:0000748	Inappropriate laughter
OMIM:615074	GATAD2B	57459	HP:0100807	Long fingers
OMIM:615074	GATAD2B	57459	HP:0001319	Neonatal hypotonia
OMIM:615074	GATAD2B	57459	HP:0010511	Long toe
OMIM:615074	GATAD2B	57459	HP:0000219	Thin upper lip vermilion
OMIM:615074	GATAD2B	57459	HP:0002465	Poor speech
OMIM:615074	GATAD2B	57459	HP:0000581	Blepharophimosis
OMIM:615074	GATAD2B	57459	HP:0000337	Broad forehead
OMIM:615074	GATAD2B	57459	HP:0000154	Wide mouth
OMIM:615074	GATAD2B	57459	HP:0000431	Wide nasal bridge
OMIM:615074	GATAD2B	57459	HP:0000540	Hypermetropia
OMIM:230400	GALT	2592	HP:0002240	Hepatomegaly
OMIM:230400	GALT	2592	HP:0001410	Decreased liver function
OMIM:230400	GALT	2592	HP:0001394	Cirrhosis
OMIM:230400	GALT	2592	HP:0001249	Intellectual disability
OMIM:230400	GALT	2592	HP:0012023	Galactosuria
OMIM:230400	GALT	2592	HP:0000007	Autosomal recessive inheritance
OMIM:230400	GALT	2592	HP:0000518	Cataract
OMIM:230400	GALT	2592	HP:0008209	Premature ovarian insufficiency
OMIM:230400	GALT	2592	HP:0002013	Vomiting
OMIM:230400	GALT	2592	HP:0003355	Aminoaciduria
OMIM:230400	GALT	2592	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:230400	GALT	2592	HP:0001878	Hemolytic anemia
OMIM:230400	GALT	2592	HP:0001508	Failure to thrive
OMIM:230400	GALT	2592	HP:0001942	Metabolic acidosis
OMIM:230400	GALT	2592	HP:0002014	Diarrhea
OMIM:230400	GALT	2592	HP:0000815	Hypergonadotropic hypogonadism
OMIM:230400	GALT	2592	HP:0012024	Hypergalactosemia
OMIM:602541	CHKB	1120	HP:0001249	Intellectual disability
OMIM:602541	CHKB	1120	HP:0000252	Microcephaly
OMIM:602541	CHKB	1120	HP:0002515	Waddling gait
OMIM:602541	CHKB	1120	HP:0003198	Myopathy
OMIM:602541	CHKB	1120	HP:0003391	Gowers sign
OMIM:602541	CHKB	1120	HP:0003577	Congenital onset
OMIM:602541	CHKB	1120	HP:0008064	Ichthyosis
OMIM:602541	CHKB	1120	HP:0000007	Autosomal recessive inheritance
OMIM:602541	CHKB	1120	HP:0003677	Slow progression
OMIM:602541	CHKB	1120	HP:0001270	Motor delay
OMIM:602541	CHKB	1120	HP:0000750	Delayed speech and language development
OMIM:602541	CHKB	1120	HP:0010628	Facial palsy
OMIM:602541	CHKB	1120	HP:0001250	Seizures
OMIM:602541	CHKB	1120	HP:0003741	Congenital muscular dystrophy
OMIM:602541	CHKB	1120	HP:0002465	Poor speech
OMIM:602541	CHKB	1120	HP:0001319	Neonatal hypotonia
OMIM:602541	CHKB	1120	HP:0001427	Mitochondrial inheritance
OMIM:602541	CHKB	1120	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:425	ABCA1	19	HP:0000991	Xanthomatosis
ORPHA:425	ABCA1	19	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:425	ABCA1	19	HP:0001903	Anemia
ORPHA:425	ABCA1	19	HP:0004374	Hemiplegia/hemiparesis
ORPHA:425	ABCA1	19	HP:0000622	Blurred vision
ORPHA:425	ABCA1	19	HP:0001392	Abnormality of the liver
ORPHA:425	ABCA1	19	HP:0001744	Splenomegaly
ORPHA:425	ABCA1	19	HP:0002716	Lymphadenopathy
ORPHA:425	ABCA1	19	HP:0003457	EMG abnormality
ORPHA:425	ABCA1	19	HP:0007957	Corneal opacity
ORPHA:425	APOA1	335	HP:0000991	Xanthomatosis
ORPHA:425	APOA1	335	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:425	APOA1	335	HP:0001903	Anemia
ORPHA:425	APOA1	335	HP:0004374	Hemiplegia/hemiparesis
ORPHA:425	APOA1	335	HP:0000622	Blurred vision
ORPHA:425	APOA1	335	HP:0001392	Abnormality of the liver
ORPHA:425	APOA1	335	HP:0001744	Splenomegaly
ORPHA:425	APOA1	335	HP:0002716	Lymphadenopathy
ORPHA:425	APOA1	335	HP:0003457	EMG abnormality
ORPHA:425	APOA1	335	HP:0007957	Corneal opacity
OMIM:614434	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:614434	FBLN5	10516	HP:0100678	Premature skin wrinkling
OMIM:614434	FBLN5	10516	HP:0001653	Mitral regurgitation
OMIM:614434	FBLN5	10516	HP:0000973	Cutis laxa
OMIM:614434	FBLN5	10516	HP:0002650	Scoliosis
OMIM:613807	CCDC39	339829	HP:0000789	Infertility
OMIM:613807	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:613807	CCDC39	339829	HP:0000388	Otitis media
OMIM:613807	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC39	339829	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
OMIM:613807	CCDC39	339829	HP:0012257	Absent inner dynein arms
OMIM:613807	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC39	339829	HP:0012265	Ciliary dyskinesia
OMIM:613093	PDE6C	5146	HP:0000639	Nystagmus
OMIM:613093	PDE6C	5146	HP:0007663	Reduced visual acuity
OMIM:613093	PDE6C	5146	HP:0000613	Photophobia
OMIM:613093	PDE6C	5146	HP:0000505	Visual impairment
OMIM:613093	PDE6C	5146	HP:0007641	Dyschromatopsia
OMIM:613093	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:614328	ADAM17	6868	HP:0000007	Autosomal recessive inheritance
OMIM:614328	ADAM17	6868	HP:0001880	Eosinophilia
OMIM:614328	ADAM17	6868	HP:0001805	Thick nail
OMIM:614328	ADAM17	6868	HP:0001818	Paronychia
OMIM:614328	ADAM17	6868	HP:0002573	Hematochezia
OMIM:614328	ADAM17	6868	HP:0010783	Erythema
OMIM:614328	ADAM17	6868	HP:0000498	Blepharitis
OMIM:614328	ADAM17	6868	HP:0200039	Pustule
OMIM:614328	ADAM17	6868	HP:0011473	Villous atrophy
OMIM:614328	ADAM17	6868	HP:0001019	Erythroderma
OMIM:162000	UMOD	7369	HP:0001997	Gout
OMIM:162000	UMOD	7369	HP:0000006	Autosomal dominant inheritance
OMIM:162000	UMOD	7369	HP:0003621	Juvenile onset
OMIM:162000	UMOD	7369	HP:0000092	Tubular atrophy
OMIM:162000	UMOD	7369	HP:0000112	Nephropathy
OMIM:162000	UMOD	7369	HP:0000083	Renal insufficiency
OMIM:162000	UMOD	7369	HP:0003676	Progressive
OMIM:615481	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:615481	RSPH1	89765	HP:0012384	Rhinitis
OMIM:615481	RSPH1	89765	HP:0012265	Ciliary dyskinesia
OMIM:615481	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615481	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615481	RSPH1	89765	HP:0000789	Infertility
ORPHA:3157	SOX2	6657	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	SOX2	6657	HP:0000486	Strabismus
ORPHA:3157	SOX2	6657	HP:0000028	Cryptorchidism
ORPHA:3157	SOX2	6657	HP:0000639	Nystagmus
ORPHA:3157	SOX2	6657	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	SOX2	6657	HP:0000505	Visual impairment
ORPHA:3157	SOX2	6657	HP:0100842	Septo-optic dysplasia
ORPHA:3157	SOX2	6657	HP:0008736	Hypoplasia of penis
ORPHA:3157	SOX2	6657	HP:0001250	Seizures
ORPHA:3157	SOX2	6657	HP:0004322	Short stature
ORPHA:3157	SOX2	6657	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	SOX2	6657	HP:0000175	Cleft palate
ORPHA:3157	SOX3	6658	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	SOX3	6658	HP:0000486	Strabismus
ORPHA:3157	SOX3	6658	HP:0000028	Cryptorchidism
ORPHA:3157	SOX3	6658	HP:0000639	Nystagmus
ORPHA:3157	SOX3	6658	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	SOX3	6658	HP:0000505	Visual impairment
ORPHA:3157	SOX3	6658	HP:0100842	Septo-optic dysplasia
ORPHA:3157	SOX3	6658	HP:0008736	Hypoplasia of penis
ORPHA:3157	SOX3	6658	HP:0001250	Seizures
ORPHA:3157	SOX3	6658	HP:0004322	Short stature
ORPHA:3157	SOX3	6658	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	SOX3	6658	HP:0000175	Cleft palate
ORPHA:3157	PROKR2	128674	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	PROKR2	128674	HP:0000486	Strabismus
ORPHA:3157	PROKR2	128674	HP:0000028	Cryptorchidism
ORPHA:3157	PROKR2	128674	HP:0000639	Nystagmus
ORPHA:3157	PROKR2	128674	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	PROKR2	128674	HP:0000505	Visual impairment
ORPHA:3157	PROKR2	128674	HP:0100842	Septo-optic dysplasia
ORPHA:3157	PROKR2	128674	HP:0008736	Hypoplasia of penis
ORPHA:3157	PROKR2	128674	HP:0001250	Seizures
ORPHA:3157	PROKR2	128674	HP:0004322	Short stature
ORPHA:3157	PROKR2	128674	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	PROKR2	128674	HP:0000175	Cleft palate
ORPHA:3157	FGFR1	2260	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	FGFR1	2260	HP:0000486	Strabismus
ORPHA:3157	FGFR1	2260	HP:0000028	Cryptorchidism
ORPHA:3157	FGFR1	2260	HP:0000639	Nystagmus
ORPHA:3157	FGFR1	2260	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	FGFR1	2260	HP:0000505	Visual impairment
ORPHA:3157	FGFR1	2260	HP:0100842	Septo-optic dysplasia
ORPHA:3157	FGFR1	2260	HP:0008736	Hypoplasia of penis
ORPHA:3157	FGFR1	2260	HP:0001250	Seizures
ORPHA:3157	FGFR1	2260	HP:0004322	Short stature
ORPHA:3157	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	FGFR1	2260	HP:0000175	Cleft palate
ORPHA:3157	HESX1	8820	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	HESX1	8820	HP:0000486	Strabismus
ORPHA:3157	HESX1	8820	HP:0000028	Cryptorchidism
ORPHA:3157	HESX1	8820	HP:0000639	Nystagmus
ORPHA:3157	HESX1	8820	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	HESX1	8820	HP:0000505	Visual impairment
ORPHA:3157	HESX1	8820	HP:0100842	Septo-optic dysplasia
ORPHA:3157	HESX1	8820	HP:0008736	Hypoplasia of penis
ORPHA:3157	HESX1	8820	HP:0001250	Seizures
ORPHA:3157	HESX1	8820	HP:0004322	Short stature
ORPHA:3157	HESX1	8820	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	HESX1	8820	HP:0000175	Cleft palate
ORPHA:3157	OTX2	5015	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	OTX2	5015	HP:0000486	Strabismus
ORPHA:3157	OTX2	5015	HP:0000028	Cryptorchidism
ORPHA:3157	OTX2	5015	HP:0000639	Nystagmus
ORPHA:3157	OTX2	5015	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	OTX2	5015	HP:0000505	Visual impairment
ORPHA:3157	OTX2	5015	HP:0100842	Septo-optic dysplasia
ORPHA:3157	OTX2	5015	HP:0008736	Hypoplasia of penis
ORPHA:3157	OTX2	5015	HP:0001250	Seizures
ORPHA:3157	OTX2	5015	HP:0004322	Short stature
ORPHA:3157	OTX2	5015	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	OTX2	5015	HP:0000175	Cleft palate
ORPHA:3157	ARNT2	9915	HP:0004374	Hemiplegia/hemiparesis
ORPHA:3157	ARNT2	9915	HP:0000486	Strabismus
ORPHA:3157	ARNT2	9915	HP:0000028	Cryptorchidism
ORPHA:3157	ARNT2	9915	HP:0000639	Nystagmus
ORPHA:3157	ARNT2	9915	HP:0010627	Anterior pituitary hypoplasia
ORPHA:3157	ARNT2	9915	HP:0000505	Visual impairment
ORPHA:3157	ARNT2	9915	HP:0100842	Septo-optic dysplasia
ORPHA:3157	ARNT2	9915	HP:0008736	Hypoplasia of penis
ORPHA:3157	ARNT2	9915	HP:0001250	Seizures
ORPHA:3157	ARNT2	9915	HP:0004322	Short stature
ORPHA:3157	ARNT2	9915	HP:0001274	Agenesis of corpus callosum
ORPHA:3157	ARNT2	9915	HP:0000175	Cleft palate
OMIM:608716	ASPM	259266	HP:0002119	Ventriculomegaly
OMIM:608716	ASPM	259266	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608716	ASPM	259266	HP:0000750	Delayed speech and language development
OMIM:608716	ASPM	259266	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	ASPM	259266	HP:0002553	Highly arched eyebrow
OMIM:608716	ASPM	259266	HP:0000252	Microcephaly
OMIM:608716	ASPM	259266	HP:0000520	Proptosis
OMIM:608716	ASPM	259266	HP:0001249	Intellectual disability
OMIM:608716	ASPM	259266	HP:0000340	Sloping forehead
OMIM:608716	ASPM	259266	HP:0003577	Congenital onset
OMIM:608716	ASPM	259266	HP:0001274	Agenesis of corpus callosum
OMIM:608716	ASPM	259266	HP:0004322	Short stature
OMIM:608716	ASPM	259266	HP:0001270	Motor delay
OMIM:608716	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:608716	ASPM	259266	HP:0000341	Narrow forehead
OMIM:608716	ASPM	259266	HP:0002472	Small cerebral cortex
OMIM:608716	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:239000	TNFRSF11B	4982	HP:0000256	Macrocephaly
OMIM:239000	TNFRSF11B	4982	HP:0001552	Barrel-shaped chest
OMIM:239000	TNFRSF11B	4982	HP:0002684	Thickened calvaria
OMIM:239000	TNFRSF11B	4982	HP:0000407	Sensorineural hearing impairment
OMIM:239000	TNFRSF11B	4982	HP:0003148	Elevated serum acid phosphatase
OMIM:239000	TNFRSF11B	4982	HP:0004322	Short stature
OMIM:239000	TNFRSF11B	4982	HP:0006487	Bowing of the long bones
OMIM:239000	TNFRSF11B	4982	HP:0002149	Hyperuricemia
OMIM:239000	TNFRSF11B	4982	HP:0002905	Hyperphosphatemia
OMIM:239000	TNFRSF11B	4982	HP:0003260	Hydroxyprolinemia
OMIM:239000	TNFRSF11B	4982	HP:0003676	Progressive
OMIM:239000	TNFRSF11B	4982	HP:0011001	Increased bone mineral density
OMIM:239000	TNFRSF11B	4982	HP:0001324	Muscle weakness
OMIM:239000	TNFRSF11B	4982	HP:0003828	Variable expressivity
OMIM:239000	TNFRSF11B	4982	HP:0003155	Elevated alkaline phosphatase
OMIM:239000	TNFRSF11B	4982	HP:0002808	Kyphosis
OMIM:239000	TNFRSF11B	4982	HP:0000007	Autosomal recessive inheritance
OMIM:239000	TNFRSF11B	4982	HP:0000939	Osteoporosis
OMIM:239000	TNFRSF11B	4982	HP:0031013	Ankylosis
OMIM:239000	TNFRSF11B	4982	HP:0001102	Angioid streaks of the retina
OMIM:239000	TNFRSF11B	4982	HP:0003080	Hydroxyprolinuria
OMIM:239000	TNFRSF11B	4982	HP:0002757	Recurrent fractures
OMIM:239000	TNFRSF11B	4982	HP:0006480	Premature loss of teeth
ORPHA:248	EDAR	10913	HP:0002213	Fine hair
ORPHA:248	EDAR	10913	HP:0000958	Dry skin
ORPHA:248	EDAR	10913	HP:0001231	Abnormality of the fingernails
ORPHA:248	EDAR	10913	HP:0006323	Premature loss of primary teeth
ORPHA:248	EDAR	10913	HP:0000966	Hypohidrosis
ORPHA:248	EDAR	10913	HP:0001596	Alopecia
ORPHA:248	EDAR	10913	HP:0008388	Abnormal toenail morphology
ORPHA:248	EDAR	10913	HP:0000685	Hypoplasia of teeth
ORPHA:248	EDAR	10913	HP:0006482	Abnormality of dental morphology
ORPHA:248	EDARADD	128178	HP:0002213	Fine hair
ORPHA:248	EDARADD	128178	HP:0000958	Dry skin
ORPHA:248	EDARADD	128178	HP:0001231	Abnormality of the fingernails
ORPHA:248	EDARADD	128178	HP:0006323	Premature loss of primary teeth
ORPHA:248	EDARADD	128178	HP:0000966	Hypohidrosis
ORPHA:248	EDARADD	128178	HP:0001596	Alopecia
ORPHA:248	EDARADD	128178	HP:0008388	Abnormal toenail morphology
ORPHA:248	EDARADD	128178	HP:0000685	Hypoplasia of teeth
ORPHA:248	EDARADD	128178	HP:0006482	Abnormality of dental morphology
ORPHA:248	WNT10A	80326	HP:0002213	Fine hair
ORPHA:248	WNT10A	80326	HP:0000958	Dry skin
ORPHA:248	WNT10A	80326	HP:0001231	Abnormality of the fingernails
ORPHA:248	WNT10A	80326	HP:0006323	Premature loss of primary teeth
ORPHA:248	WNT10A	80326	HP:0000966	Hypohidrosis
ORPHA:248	WNT10A	80326	HP:0001596	Alopecia
ORPHA:248	WNT10A	80326	HP:0008388	Abnormal toenail morphology
ORPHA:248	WNT10A	80326	HP:0000685	Hypoplasia of teeth
ORPHA:248	WNT10A	80326	HP:0006482	Abnormality of dental morphology
OMIM:609054	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:609054	BRIP1	83990	HP:0008897	Postnatal growth retardation
OMIM:609054	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:609054	BRIP1	83990	HP:0001263	Global developmental delay
OMIM:609054	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
ORPHA:2176	ANTXR2	118429	HP:0000953	Hyperpigmentation of the skin
ORPHA:2176	ANTXR2	118429	HP:0002721	Immunodeficiency
ORPHA:2176	ANTXR2	118429	HP:0000938	Osteopenia
ORPHA:2176	ANTXR2	118429	HP:0000280	Coarse facial features
ORPHA:2176	ANTXR2	118429	HP:0002718	Recurrent bacterial infections
ORPHA:2176	ANTXR2	118429	HP:0011968	Feeding difficulties
ORPHA:2176	ANTXR2	118429	HP:0000939	Osteoporosis
ORPHA:2176	ANTXR2	118429	HP:0001252	Muscular hypotonia
ORPHA:2176	ANTXR2	118429	HP:0002570	Steatorrhea
ORPHA:2176	ANTXR2	118429	HP:0001387	Joint stiffness
ORPHA:2176	ANTXR2	118429	HP:0002749	Osteomalacia
ORPHA:2176	ANTXR2	118429	HP:0003510	Severe short stature
ORPHA:2176	ANTXR2	118429	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHA:2176	ANTXR2	118429	HP:0002983	Micromelia
ORPHA:2176	ANTXR2	118429	HP:0001004	Lymphedema
ORPHA:2176	ANTXR2	118429	HP:0200042	Skin ulcer
ORPHA:2176	ANTXR2	118429	HP:0000147	Polycystic ovaries
ORPHA:2176	ANTXR2	118429	HP:0001072	Thickened skin
ORPHA:2176	ANTXR2	118429	HP:0000212	Gingival overgrowth
ORPHA:2176	ANTXR2	118429	HP:0000834	Abnormality of the adrenal glands
ORPHA:2176	ANTXR2	118429	HP:0100585	Telangiectasia of the skin
ORPHA:2176	ANTXR2	118429	HP:0000256	Macrocephaly
ORPHA:2176	ANTXR2	118429	HP:0001025	Urticaria
ORPHA:2176	ANTXR2	118429	HP:0002757	Recurrent fractures
ORPHA:2176	ANTXR2	118429	HP:0100490	Camptodactyly of finger
ORPHA:2176	ANTXR2	118429	HP:0001482	Subcutaneous nodule
ORPHA:2176	ANTXR2	118429	HP:0004279	Short palm
ORPHA:2176	ANTXR2	118429	HP:0000470	Short neck
ORPHA:2176	ANTXR2	118429	HP:0001156	Brachydactyly
ORPHA:2176	ANTXR2	118429	HP:0001508	Failure to thrive
ORPHA:2176	ANTXR2	118429	HP:0006482	Abnormality of dental morphology
ORPHA:2176	ANTXR2	118429	HP:0002028	Chronic diarrhea
OMIM:607341	TSC1	7248	HP:0007042	Focal white matter lesions
OMIM:607341	TSC1	7248	HP:0002539	Cortical dysplasia
OMIM:607341	TSC1	7248	HP:0003593	Infantile onset
OMIM:607341	TSC1	7248	HP:0001249	Intellectual disability
OMIM:607341	TSC1	7248	HP:0001269	Hemiparesis
OMIM:607341	TSC1	7248	HP:0002446	Astrocytosis
OMIM:607341	TSC1	7248	HP:0100543	Cognitive impairment
OMIM:607341	TSC1	7248	HP:0003581	Adult onset
OMIM:607341	TSC1	7248	HP:0001428	Somatic mutation
OMIM:607341	TSC1	7248	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607341	TSC1	7248	HP:0003745	Sporadic
OMIM:607341	TSC2	7249	HP:0007042	Focal white matter lesions
OMIM:607341	TSC2	7249	HP:0002539	Cortical dysplasia
OMIM:607341	TSC2	7249	HP:0003593	Infantile onset
OMIM:607341	TSC2	7249	HP:0001249	Intellectual disability
OMIM:607341	TSC2	7249	HP:0001269	Hemiparesis
OMIM:607341	TSC2	7249	HP:0002446	Astrocytosis
OMIM:607341	TSC2	7249	HP:0100543	Cognitive impairment
OMIM:607341	TSC2	7249	HP:0003581	Adult onset
OMIM:607341	TSC2	7249	HP:0001428	Somatic mutation
OMIM:607341	TSC2	7249	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607341	TSC2	7249	HP:0003745	Sporadic
OMIM:607341	MTOR	2475	HP:0007042	Focal white matter lesions
OMIM:607341	MTOR	2475	HP:0002539	Cortical dysplasia
OMIM:607341	MTOR	2475	HP:0003593	Infantile onset
OMIM:607341	MTOR	2475	HP:0001249	Intellectual disability
OMIM:607341	MTOR	2475	HP:0001269	Hemiparesis
OMIM:607341	MTOR	2475	HP:0002446	Astrocytosis
OMIM:607341	MTOR	2475	HP:0100543	Cognitive impairment
OMIM:607341	MTOR	2475	HP:0003581	Adult onset
OMIM:607341	MTOR	2475	HP:0001428	Somatic mutation
OMIM:607341	MTOR	2475	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607341	MTOR	2475	HP:0003745	Sporadic
OMIM:175100	APC	324	HP:0009592	Astrocytoma
OMIM:175100	APC	324	HP:0010562	Keloids
OMIM:175100	APC	324	HP:0005227	Adenomatous colonic polyposis
OMIM:175100	APC	324	HP:0000953	Hyperpigmentation of the skin
OMIM:175100	APC	324	HP:0001012	Multiple lipomas
OMIM:175100	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:175100	APC	324	HP:0006722	Small intestine carcinoid
OMIM:175100	APC	324	HP:0011068	Odontoma
OMIM:175100	APC	324	HP:0003003	Colon cancer
OMIM:175100	APC	324	HP:0003828	Variable expressivity
OMIM:175100	APC	324	HP:0004394	Multiple gastric polyps
OMIM:175100	APC	324	HP:0006744	Adrenocortical carcinoma
OMIM:617235	KIF5A	3798	HP:0000508	Ptosis
OMIM:617235	KIF5A	3798	HP:0011968	Feeding difficulties
OMIM:617235	KIF5A	3798	HP:0012448	Delayed myelination
OMIM:617235	KIF5A	3798	HP:0000252	Microcephaly
OMIM:617235	KIF5A	3798	HP:0001290	Generalized hypotonia
OMIM:617235	KIF5A	3798	HP:0002305	Athetosis
OMIM:617235	KIF5A	3798	HP:0002072	Chorea
OMIM:617235	KIF5A	3798	HP:0003577	Congenital onset
OMIM:617235	KIF5A	3798	HP:0007281	Developmental stagnation
OMIM:617235	KIF5A	3798	HP:0006980	Progressive leukoencephalopathy
OMIM:617235	KIF5A	3798	HP:0000639	Nystagmus
OMIM:617235	KIF5A	3798	HP:0002015	Dysphagia
OMIM:617235	KIF5A	3798	HP:0000006	Autosomal dominant inheritance
OMIM:617235	KIF5A	3798	HP:0100704	Cortical visual impairment
OMIM:616975	RERE	473	HP:0000076	Vesicoureteral reflux
OMIM:616975	RERE	473	HP:0000006	Autosomal dominant inheritance
OMIM:616975	RERE	473	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616975	RERE	473	HP:0002020	Gastroesophageal reflux
OMIM:616975	RERE	473	HP:0000486	Strabismus
OMIM:616975	RERE	473	HP:0003593	Infantile onset
OMIM:616975	RERE	473	HP:0011229	Broad eyebrow
OMIM:616975	RERE	473	HP:0000347	Micrognathia
OMIM:616975	RERE	473	HP:0000047	Hypospadias
OMIM:616975	RERE	473	HP:0000648	Optic atrophy
OMIM:616975	RERE	473	HP:0000028	Cryptorchidism
OMIM:616975	RERE	473	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616975	RERE	473	HP:0001263	Global developmental delay
OMIM:616975	RERE	473	HP:0001290	Generalized hypotonia
OMIM:616975	RERE	473	HP:0011968	Feeding difficulties
OMIM:616975	RERE	473	HP:0000729	Autistic behavior
OMIM:616975	RERE	473	HP:0000358	Posteriorly rotated ears
OMIM:616975	RERE	473	HP:0000581	Blepharophimosis
OMIM:616975	RERE	473	HP:0001511	Intrauterine growth retardation
OMIM:616975	RERE	473	HP:0000369	Low-set ears
OMIM:616975	RERE	473	HP:0000589	Coloboma
OMIM:616975	RERE	473	HP:0001629	Ventricular septal defect
OMIM:616975	RERE	473	HP:0000286	Epicanthus
OMIM:616975	RERE	473	HP:0000494	Downslanted palpebral fissures
OMIM:616975	RERE	473	HP:0000568	Microphthalmia
OMIM:616975	RERE	473	HP:0004322	Short stature
OMIM:616975	RERE	473	HP:0001260	Dysarthria
OMIM:616975	RERE	473	HP:0002007	Frontal bossing
OMIM:616975	RERE	473	HP:0000463	Anteverted nares
OMIM:616975	RERE	473	HP:0002119	Ventriculomegaly
OMIM:220120	GLYCTK	132158	HP:0003812	Phenotypic variability
OMIM:220120	GLYCTK	132158	HP:0000007	Autosomal recessive inheritance
OMIM:220120	GLYCTK	132158	HP:0001298	Encephalopathy
OMIM:220120	GLYCTK	132158	HP:0001319	Neonatal hypotonia
OMIM:220120	GLYCTK	132158	HP:0002521	Hypsarrhythmia
OMIM:220120	GLYCTK	132158	HP:0008288	Nonketotic hyperglycinemia
OMIM:220120	GLYCTK	132158	HP:0001508	Failure to thrive
OMIM:220120	GLYCTK	132158	HP:0002179	Opisthotonus
OMIM:220120	GLYCTK	132158	HP:0002120	Cerebral cortical atrophy
OMIM:220120	GLYCTK	132158	HP:0001347	Hyperreflexia
OMIM:220120	GLYCTK	132158	HP:0008936	Muscular hypotonia of the trunk
OMIM:220120	GLYCTK	132158	HP:0002510	Spastic tetraplegia
OMIM:220120	GLYCTK	132158	HP:0001336	Myoclonus
OMIM:220120	GLYCTK	132158	HP:0012448	Delayed myelination
OMIM:220120	GLYCTK	132158	HP:0003355	Aminoaciduria
OMIM:220120	GLYCTK	132158	HP:0001942	Metabolic acidosis
OMIM:220120	GLYCTK	132158	HP:0001249	Intellectual disability
OMIM:220120	GLYCTK	132158	HP:0000252	Microcephaly
OMIM:220120	GLYCTK	132158	HP:0001510	Growth delay
OMIM:220120	GLYCTK	132158	HP:0001263	Global developmental delay
OMIM:220120	GLYCTK	132158	HP:0001250	Seizures
OMIM:600204	COL9A2	1298	HP:0010585	Small epiphyses
OMIM:600204	COL9A2	1298	HP:0001425	Heterogeneous
OMIM:600204	COL9A2	1298	HP:0002970	Genu varum
OMIM:600204	COL9A2	1298	HP:0003502	Mild short stature
OMIM:600204	COL9A2	1298	HP:0005086	Knee osteoarthritis
OMIM:600204	COL9A2	1298	HP:0002656	Epiphyseal dysplasia
OMIM:600204	COL9A2	1298	HP:0000006	Autosomal dominant inheritance
OMIM:600204	COL9A2	1298	HP:0004279	Short palm
OMIM:600204	COL9A2	1298	HP:0011463	Childhood onset
OMIM:600204	COL9A2	1298	HP:0003071	Flattened epiphysis
OMIM:600204	COL9A2	1298	HP:0002515	Waddling gait
OMIM:600204	COL9A2	1298	HP:0010582	Irregular epiphyses
ORPHA:2117	FGFR1	2260	HP:0006870	Lobar holoprosencephaly
ORPHA:2117	FGFR1	2260	HP:0001511	Intrauterine growth retardation
ORPHA:2117	FGFR1	2260	HP:0100335	Non-midline cleft lip
ORPHA:2117	FGFR1	2260	HP:0000506	Telecanthus
ORPHA:2117	FGFR1	2260	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2117	FGFR1	2260	HP:0001171	Split hand
ORPHA:2117	FGFR1	2260	HP:0000175	Cleft palate
ORPHA:2117	FGFR1	2260	HP:0002093	Respiratory insufficiency
ORPHA:2117	FGFR1	2260	HP:0005280	Depressed nasal bridge
ORPHA:2117	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
ORPHA:2117	FGFR1	2260	HP:0000508	Ptosis
ORPHA:2117	FGFR1	2260	HP:0002084	Encephalocele
ORPHA:2117	FGFR1	2260	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:2117	FGFR1	2260	HP:0001363	Craniosynostosis
ORPHA:2117	FGFR1	2260	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2117	FGFR1	2260	HP:0000316	Hypertelorism
ORPHA:2117	FGFR1	2260	HP:0000568	Microphthalmia
OMIM:157640	POLG	5428	HP:0003581	Adult onset
OMIM:157640	POLG	5428	HP:0000029	Testicular atrophy
OMIM:157640	POLG	5428	HP:0002151	Increased serum lactate
OMIM:157640	POLG	5428	HP:0003390	Sensory axonal neuropathy
OMIM:157640	POLG	5428	HP:0000518	Cataract
OMIM:157640	POLG	5428	HP:0002066	Gait ataxia
OMIM:157640	POLG	5428	HP:0002067	Bradykinesia
OMIM:157640	POLG	5428	HP:0000786	Primary amenorrhea
OMIM:157640	POLG	5428	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	POLG	5428	HP:0000869	Secondary amenorrhea
OMIM:157640	POLG	5428	HP:0001260	Dysarthria
OMIM:157640	POLG	5428	HP:0003202	Skeletal muscle atrophy
OMIM:157640	POLG	5428	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:157640	POLG	5428	HP:0000508	Ptosis
OMIM:157640	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:157640	POLG	5428	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:157640	POLG	5428	HP:0003713	Muscle fiber necrosis
OMIM:157640	POLG	5428	HP:0002063	Rigidity
OMIM:157640	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	POLG	5428	HP:0006886	Impaired distal vibration sensation
OMIM:157640	POLG	5428	HP:0001265	Hyporeflexia
OMIM:157640	POLG	5428	HP:0000590	Progressive external ophthalmoplegia
OMIM:157640	POLG	5428	HP:0002578	Gastroparesis
OMIM:157640	POLG	5428	HP:0003546	Exercise intolerance
OMIM:157640	POLG	5428	HP:0001425	Heterogeneous
OMIM:157640	POLG	5428	HP:0010628	Facial palsy
OMIM:157640	POLG	5428	HP:0001761	Pes cavus
OMIM:157640	POLG	5428	HP:0002322	Resting tremor
OMIM:157640	POLG	5428	HP:0003323	Progressive muscle weakness
OMIM:157640	POLG	5428	HP:0003557	Increased variability in muscle fiber diameter
OMIM:157640	POLG	5428	HP:0003690	Limb muscle weakness
OMIM:157640	POLG	5428	HP:0003200	Ragged-red muscle fibers
OMIM:157640	POLG	5428	HP:0003812	Phenotypic variability
OMIM:157640	POLG	5428	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
OMIM:157640	POLG	5428	HP:0008209	Premature ovarian insufficiency
OMIM:157640	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:157640	POLG	5428	HP:0003676	Progressive
OMIM:157640	POLG	5428	HP:0000716	Depressivity
OMIM:157640	POLG	5428	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:157640	POLG	5428	HP:0002015	Dysphagia
OMIM:157640	POLG	5428	HP:0006858	Impaired distal proprioception
OMIM:617405	TCTEX1D2	255758	HP:0001156	Brachydactyly
OMIM:617405	TCTEX1D2	255758	HP:0000007	Autosomal recessive inheritance
OMIM:617405	TCTEX1D2	255758	HP:0004322	Short stature
OMIM:614650	COQ6	51004	HP:0003678	Rapidly progressive
OMIM:614650	COQ6	51004	HP:0003593	Infantile onset
OMIM:614650	COQ6	51004	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614650	COQ6	51004	HP:0000093	Proteinuria
OMIM:614650	COQ6	51004	HP:0000007	Autosomal recessive inheritance
OMIM:614650	COQ6	51004	HP:0000100	Nephrotic syndrome
OMIM:614650	COQ6	51004	HP:0000407	Sensorineural hearing impairment
OMIM:262500	GHR	2690	HP:0000007	Autosomal recessive inheritance
OMIM:262500	GHR	2690	HP:0003026	Short long bone
OMIM:262500	GHR	2690	HP:0012569	Delayed menarche
OMIM:262500	GHR	2690	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:262500	GHR	2690	HP:0001367	Abnormal joint morphology
OMIM:262500	GHR	2690	HP:0001620	High pitched voice
OMIM:262500	GHR	2690	HP:0002750	Delayed skeletal maturation
OMIM:262500	GHR	2690	HP:0003510	Severe short stature
OMIM:262500	GHR	2690	HP:0000274	Small face
ORPHA:314911	ASPA	443	HP:0001250	Seizures
ORPHA:314911	ASPA	443	HP:0001254	Lethargy
ORPHA:314911	ASPA	443	HP:0000256	Macrocephaly
ORPHA:314911	ASPA	443	HP:0002020	Gastroesophageal reflux
ORPHA:314911	ASPA	443	HP:0000649	Abnormality of visual evoked potentials
ORPHA:314911	ASPA	443	HP:0002360	Sleep disturbance
ORPHA:314911	ASPA	443	HP:0001257	Spasticity
ORPHA:314911	ASPA	443	HP:0000365	Hearing impairment
ORPHA:314911	ASPA	443	HP:0001249	Intellectual disability
ORPHA:314911	ASPA	443	HP:0002353	EEG abnormality
ORPHA:314911	ASPA	443	HP:0001252	Muscular hypotonia
ORPHA:314911	ASPA	443	HP:0000572	Visual loss
ORPHA:314911	ASPA	443	HP:0001263	Global developmental delay
ORPHA:314911	ASPA	443	HP:0002015	Dysphagia
ORPHA:314911	ASPA	443	HP:0001259	Coma
ORPHA:314911	ASPA	443	HP:0000648	Optic atrophy
ORPHA:440	MAMLD1	10046	HP:0000047	Hypospadias
ORPHA:440	AR	367	HP:0000047	Hypospadias
OMIM:612949	SLC25A12	8604	HP:0003593	Infantile onset
OMIM:612949	SLC25A12	8604	HP:0001347	Hyperreflexia
OMIM:612949	SLC25A12	8604	HP:0006808	Cerebral hypomyelination
OMIM:612949	SLC25A12	8604	HP:0001263	Global developmental delay
OMIM:612949	SLC25A12	8604	HP:0000817	Poor eye contact
OMIM:612949	SLC25A12	8604	HP:0001344	Absent speech
OMIM:612949	SLC25A12	8604	HP:0001257	Spasticity
OMIM:612949	SLC25A12	8604	HP:0200134	Epileptic encephalopathy
OMIM:612949	SLC25A12	8604	HP:0006829	Severe muscular hypotonia
OMIM:612949	SLC25A12	8604	HP:0001250	Seizures
OMIM:612949	SLC25A12	8604	HP:0000007	Autosomal recessive inheritance
OMIM:614820	ATP1A3	478	HP:0000639	Nystagmus
OMIM:614820	ATP1A3	478	HP:0002133	Status epilepticus
OMIM:614820	ATP1A3	478	HP:0001251	Ataxia
OMIM:614820	ATP1A3	478	HP:0001266	Choreoathetosis
OMIM:614820	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:614820	ATP1A3	478	HP:0001260	Dysarthria
OMIM:614820	ATP1A3	478	HP:0001263	Global developmental delay
OMIM:614820	ATP1A3	478	HP:0001332	Dystonia
OMIM:614820	ATP1A3	478	HP:0001249	Intellectual disability
OMIM:614820	ATP1A3	478	HP:0200072	Episodic quadriplegia
OMIM:614820	ATP1A3	478	HP:0001268	Mental deterioration
OMIM:614820	ATP1A3	478	HP:0002301	Hemiplegia
OMIM:308350	ARX	170302	HP:0001332	Dystonia
OMIM:308350	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:308350	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	ARX	170302	HP:0001266	Choreoathetosis
OMIM:308350	ARX	170302	HP:0000252	Microcephaly
OMIM:308350	ARX	170302	HP:0001257	Spasticity
OMIM:308350	ARX	170302	HP:0001249	Intellectual disability
OMIM:308350	ARX	170302	HP:0002119	Ventriculomegaly
OMIM:308350	ARX	170302	HP:0001347	Hyperreflexia
OMIM:308350	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:308350	ARX	170302	HP:0002015	Dysphagia
OMIM:308350	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:308350	ARX	170302	HP:0002094	Dyspnea
OMIM:308350	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:617201	NEDD4L	23327	HP:0000347	Micrognathia
OMIM:617201	NEDD4L	23327	HP:0000028	Cryptorchidism
OMIM:617201	NEDD4L	23327	HP:0003577	Congenital onset
OMIM:617201	NEDD4L	23327	HP:0004691	2-3 toe syndactyly
OMIM:617201	NEDD4L	23327	HP:0000175	Cleft palate
OMIM:617201	NEDD4L	23327	HP:0001263	Global developmental delay
OMIM:617201	NEDD4L	23327	HP:0001249	Intellectual disability
OMIM:617201	NEDD4L	23327	HP:0000006	Autosomal dominant inheritance
OMIM:617201	NEDD4L	23327	HP:0008936	Muscular hypotonia of the trunk
OMIM:617201	NEDD4L	23327	HP:0000486	Strabismus
OMIM:612313	SATB2	23314	HP:0000750	Delayed speech and language development
OMIM:612313	SATB2	23314	HP:0001762	Talipes equinovarus
OMIM:612313	SATB2	23314	HP:0000718	Aggressive behavior
OMIM:612313	SATB2	23314	HP:0000023	Inguinal hernia
OMIM:612313	SATB2	23314	HP:0000252	Microcephaly
OMIM:612313	SATB2	23314	HP:0000678	Dental crowding
OMIM:612313	SATB2	23314	HP:0000276	Long face
OMIM:612313	SATB2	23314	HP:0001250	Seizures
OMIM:612313	SATB2	23314	HP:0000319	Smooth philtrum
OMIM:612313	SATB2	23314	HP:0001263	Global developmental delay
OMIM:612313	SATB2	23314	HP:0000160	Narrow mouth
OMIM:612313	SATB2	23314	HP:0000272	Malar flattening
OMIM:612313	SATB2	23314	HP:0000698	Conical tooth
OMIM:612313	SATB2	23314	HP:0000460	Narrow nose
OMIM:612313	SATB2	23314	HP:0000494	Downslanted palpebral fissures
OMIM:612313	SATB2	23314	HP:0000218	High palate
OMIM:612313	SATB2	23314	HP:0002136	Broad-based gait
OMIM:612313	SATB2	23314	HP:0011800	Midface retrusion
OMIM:612313	SATB2	23314	HP:0000414	Bulbous nose
OMIM:612313	SATB2	23314	HP:0001166	Arachnodactyly
OMIM:612313	SATB2	23314	HP:0003189	Long nose
OMIM:612313	SATB2	23314	HP:0004322	Short stature
OMIM:612313	SATB2	23314	HP:0012385	Camptodactyly
OMIM:612313	SATB2	23314	HP:0000347	Micrognathia
OMIM:612313	SATB2	23314	HP:0000175	Cleft palate
OMIM:612313	SATB2	23314	HP:0000426	Prominent nasal bridge
OMIM:612313	SATB2	23314	HP:0008070	Sparse hair
OMIM:612313	SATB2	23314	HP:0040082	Happy demeanor
OMIM:612313	SATB2	23314	HP:0000369	Low-set ears
OMIM:612313	SATB2	23314	HP:0000752	Hyperactivity
OMIM:612313	SATB2	23314	HP:0000963	Thin skin
OMIM:612313	SATB2	23314	HP:0002007	Frontal bossing
OMIM:612313	SATB2	23314	HP:0000677	Oligodontia
OMIM:612313	SATB2	23314	HP:0000006	Autosomal dominant inheritance
OMIM:612313	SATB2	23314	HP:0000348	High forehead
OMIM:612313	SATB2	23314	HP:0001249	Intellectual disability
OMIM:612313	SATB2	23314	HP:0002164	Nail dysplasia
OMIM:225280	CDH3	1001	HP:0007754	Macular dystrophy
OMIM:225280	CDH3	1001	HP:0001171	Split hand
OMIM:225280	CDH3	1001	HP:0012385	Camptodactyly
OMIM:225280	CDH3	1001	HP:0009473	Joint contracture of the hand
OMIM:225280	CDH3	1001	HP:0000968	Ectodermal dysplasia
OMIM:225280	CDH3	1001	HP:0000653	Sparse eyelashes
OMIM:225280	CDH3	1001	HP:0000007	Autosomal recessive inheritance
OMIM:225280	CDH3	1001	HP:0000535	Sparse and thin eyebrow
OMIM:225280	CDH3	1001	HP:0000687	Widely spaced teeth
OMIM:225280	CDH3	1001	HP:0000691	Microdontia
OMIM:225280	CDH3	1001	HP:0001592	Selective tooth agenesis
OMIM:225280	CDH3	1001	HP:0002209	Sparse scalp hair
OMIM:225280	CDH3	1001	HP:0001159	Syndactyly
OMIM:600334	TTN	7273	HP:0003677	Slow progression
OMIM:600334	TTN	7273	HP:0003805	Rimmed vacuoles
OMIM:600334	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:600334	TTN	7273	HP:0003560	Muscular dystrophy
OMIM:600334	TTN	7273	HP:0003581	Adult onset
OMIM:600334	TTN	7273	HP:0003829	Incomplete penetrance
OMIM:600334	TTN	7273	HP:0003376	Steppage gait
OMIM:600334	TTN	7273	HP:0003458	EMG: myopathic abnormalities
OMIM:220110	TACO1	51204	HP:0000407	Sensorineural hearing impairment
OMIM:220110	TACO1	51204	HP:0001410	Decreased liver function
OMIM:220110	TACO1	51204	HP:0001249	Intellectual disability
OMIM:220110	TACO1	51204	HP:0001251	Ataxia
OMIM:220110	TACO1	51204	HP:0003128	Lactic acidosis
OMIM:220110	TACO1	51204	HP:0001263	Global developmental delay
OMIM:220110	TACO1	51204	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	TACO1	51204	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	TACO1	51204	HP:0003355	Aminoaciduria
OMIM:220110	TACO1	51204	HP:0000648	Optic atrophy
OMIM:220110	TACO1	51204	HP:0002098	Respiratory distress
OMIM:220110	TACO1	51204	HP:0000508	Ptosis
OMIM:220110	TACO1	51204	HP:0001290	Generalized hypotonia
OMIM:220110	TACO1	51204	HP:0002240	Hepatomegaly
OMIM:220110	TACO1	51204	HP:0003109	Hyperphosphaturia
OMIM:220110	TACO1	51204	HP:0000580	Pigmentary retinopathy
OMIM:220110	TACO1	51204	HP:0001508	Failure to thrive
OMIM:220110	TACO1	51204	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	TACO1	51204	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	TACO1	51204	HP:0001427	Mitochondrial inheritance
OMIM:220110	TACO1	51204	HP:0002490	Increased CSF lactate
OMIM:220110	TACO1	51204	HP:0001250	Seizures
OMIM:220110	TACO1	51204	HP:0001270	Motor delay
OMIM:220110	TACO1	51204	HP:0001425	Heterogeneous
OMIM:220110	TACO1	51204	HP:0002875	Exertional dyspnea
OMIM:220110	TACO1	51204	HP:0003546	Exercise intolerance
OMIM:220110	TACO1	51204	HP:0000007	Autosomal recessive inheritance
OMIM:220110	TACO1	51204	HP:0001903	Anemia
OMIM:220110	TACO1	51204	HP:0001994	Renal Fanconi syndrome
OMIM:220110	TACO1	51204	HP:0000093	Proteinuria
OMIM:220110	TACO1	51204	HP:0002151	Increased serum lactate
OMIM:220110	TACO1	51204	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	TACO1	51204	HP:0000124	Renal tubular dysfunction
OMIM:220110	TACO1	51204	HP:0003076	Glycosuria
OMIM:220110	COX20	116228	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX20	116228	HP:0001410	Decreased liver function
OMIM:220110	COX20	116228	HP:0001249	Intellectual disability
OMIM:220110	COX20	116228	HP:0001251	Ataxia
OMIM:220110	COX20	116228	HP:0003128	Lactic acidosis
OMIM:220110	COX20	116228	HP:0001263	Global developmental delay
OMIM:220110	COX20	116228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX20	116228	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COX20	116228	HP:0003355	Aminoaciduria
OMIM:220110	COX20	116228	HP:0000648	Optic atrophy
OMIM:220110	COX20	116228	HP:0002098	Respiratory distress
OMIM:220110	COX20	116228	HP:0000508	Ptosis
OMIM:220110	COX20	116228	HP:0001290	Generalized hypotonia
OMIM:220110	COX20	116228	HP:0002240	Hepatomegaly
OMIM:220110	COX20	116228	HP:0003109	Hyperphosphaturia
OMIM:220110	COX20	116228	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX20	116228	HP:0001508	Failure to thrive
OMIM:220110	COX20	116228	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COX20	116228	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX20	116228	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX20	116228	HP:0002490	Increased CSF lactate
OMIM:220110	COX20	116228	HP:0001250	Seizures
OMIM:220110	COX20	116228	HP:0001270	Motor delay
OMIM:220110	COX20	116228	HP:0001425	Heterogeneous
OMIM:220110	COX20	116228	HP:0002875	Exertional dyspnea
OMIM:220110	COX20	116228	HP:0003546	Exercise intolerance
OMIM:220110	COX20	116228	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX20	116228	HP:0001903	Anemia
OMIM:220110	COX20	116228	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COX20	116228	HP:0000093	Proteinuria
OMIM:220110	COX20	116228	HP:0002151	Increased serum lactate
OMIM:220110	COX20	116228	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COX20	116228	HP:0000124	Renal tubular dysfunction
OMIM:220110	COX20	116228	HP:0003076	Glycosuria
OMIM:220110	SCO1	6341	HP:0000407	Sensorineural hearing impairment
OMIM:220110	SCO1	6341	HP:0001410	Decreased liver function
OMIM:220110	SCO1	6341	HP:0001249	Intellectual disability
OMIM:220110	SCO1	6341	HP:0001251	Ataxia
OMIM:220110	SCO1	6341	HP:0003128	Lactic acidosis
OMIM:220110	SCO1	6341	HP:0001263	Global developmental delay
OMIM:220110	SCO1	6341	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	SCO1	6341	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	SCO1	6341	HP:0003355	Aminoaciduria
OMIM:220110	SCO1	6341	HP:0000648	Optic atrophy
OMIM:220110	SCO1	6341	HP:0002098	Respiratory distress
OMIM:220110	SCO1	6341	HP:0000508	Ptosis
OMIM:220110	SCO1	6341	HP:0001290	Generalized hypotonia
OMIM:220110	SCO1	6341	HP:0002240	Hepatomegaly
OMIM:220110	SCO1	6341	HP:0003109	Hyperphosphaturia
OMIM:220110	SCO1	6341	HP:0000580	Pigmentary retinopathy
OMIM:220110	SCO1	6341	HP:0001508	Failure to thrive
OMIM:220110	SCO1	6341	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	SCO1	6341	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	SCO1	6341	HP:0001427	Mitochondrial inheritance
OMIM:220110	SCO1	6341	HP:0002490	Increased CSF lactate
OMIM:220110	SCO1	6341	HP:0001250	Seizures
OMIM:220110	SCO1	6341	HP:0001270	Motor delay
OMIM:220110	SCO1	6341	HP:0001425	Heterogeneous
OMIM:220110	SCO1	6341	HP:0002875	Exertional dyspnea
OMIM:220110	SCO1	6341	HP:0003546	Exercise intolerance
OMIM:220110	SCO1	6341	HP:0000007	Autosomal recessive inheritance
OMIM:220110	SCO1	6341	HP:0001903	Anemia
OMIM:220110	SCO1	6341	HP:0001994	Renal Fanconi syndrome
OMIM:220110	SCO1	6341	HP:0000093	Proteinuria
OMIM:220110	SCO1	6341	HP:0002151	Increased serum lactate
OMIM:220110	SCO1	6341	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	SCO1	6341	HP:0000124	Renal tubular dysfunction
OMIM:220110	SCO1	6341	HP:0003076	Glycosuria
OMIM:220110	COX10	1352	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX10	1352	HP:0001410	Decreased liver function
OMIM:220110	COX10	1352	HP:0001249	Intellectual disability
OMIM:220110	COX10	1352	HP:0001251	Ataxia
OMIM:220110	COX10	1352	HP:0003128	Lactic acidosis
OMIM:220110	COX10	1352	HP:0001263	Global developmental delay
OMIM:220110	COX10	1352	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX10	1352	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COX10	1352	HP:0003355	Aminoaciduria
OMIM:220110	COX10	1352	HP:0000648	Optic atrophy
OMIM:220110	COX10	1352	HP:0002098	Respiratory distress
OMIM:220110	COX10	1352	HP:0000508	Ptosis
OMIM:220110	COX10	1352	HP:0001290	Generalized hypotonia
OMIM:220110	COX10	1352	HP:0002240	Hepatomegaly
OMIM:220110	COX10	1352	HP:0003109	Hyperphosphaturia
OMIM:220110	COX10	1352	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX10	1352	HP:0001508	Failure to thrive
OMIM:220110	COX10	1352	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COX10	1352	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX10	1352	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX10	1352	HP:0002490	Increased CSF lactate
OMIM:220110	COX10	1352	HP:0001250	Seizures
OMIM:220110	COX10	1352	HP:0001270	Motor delay
OMIM:220110	COX10	1352	HP:0001425	Heterogeneous
OMIM:220110	COX10	1352	HP:0002875	Exertional dyspnea
OMIM:220110	COX10	1352	HP:0003546	Exercise intolerance
OMIM:220110	COX10	1352	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX10	1352	HP:0001903	Anemia
OMIM:220110	COX10	1352	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COX10	1352	HP:0000093	Proteinuria
OMIM:220110	COX10	1352	HP:0002151	Increased serum lactate
OMIM:220110	COX10	1352	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COX10	1352	HP:0000124	Renal tubular dysfunction
OMIM:220110	COX10	1352	HP:0003076	Glycosuria
OMIM:220110	COA7	65260	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COA7	65260	HP:0001410	Decreased liver function
OMIM:220110	COA7	65260	HP:0001249	Intellectual disability
OMIM:220110	COA7	65260	HP:0001251	Ataxia
OMIM:220110	COA7	65260	HP:0003128	Lactic acidosis
OMIM:220110	COA7	65260	HP:0001263	Global developmental delay
OMIM:220110	COA7	65260	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COA7	65260	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COA7	65260	HP:0003355	Aminoaciduria
OMIM:220110	COA7	65260	HP:0000648	Optic atrophy
OMIM:220110	COA7	65260	HP:0002098	Respiratory distress
OMIM:220110	COA7	65260	HP:0000508	Ptosis
OMIM:220110	COA7	65260	HP:0001290	Generalized hypotonia
OMIM:220110	COA7	65260	HP:0002240	Hepatomegaly
OMIM:220110	COA7	65260	HP:0003109	Hyperphosphaturia
OMIM:220110	COA7	65260	HP:0000580	Pigmentary retinopathy
OMIM:220110	COA7	65260	HP:0001508	Failure to thrive
OMIM:220110	COA7	65260	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COA7	65260	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COA7	65260	HP:0001427	Mitochondrial inheritance
OMIM:220110	COA7	65260	HP:0002490	Increased CSF lactate
OMIM:220110	COA7	65260	HP:0001250	Seizures
OMIM:220110	COA7	65260	HP:0001270	Motor delay
OMIM:220110	COA7	65260	HP:0001425	Heterogeneous
OMIM:220110	COA7	65260	HP:0002875	Exertional dyspnea
OMIM:220110	COA7	65260	HP:0003546	Exercise intolerance
OMIM:220110	COA7	65260	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COA7	65260	HP:0001903	Anemia
OMIM:220110	COA7	65260	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COA7	65260	HP:0000093	Proteinuria
OMIM:220110	COA7	65260	HP:0002151	Increased serum lactate
OMIM:220110	COA7	65260	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COA7	65260	HP:0000124	Renal tubular dysfunction
OMIM:220110	COA7	65260	HP:0003076	Glycosuria
OMIM:220110	PET100	100131801	HP:0000407	Sensorineural hearing impairment
OMIM:220110	PET100	100131801	HP:0001410	Decreased liver function
OMIM:220110	PET100	100131801	HP:0001249	Intellectual disability
OMIM:220110	PET100	100131801	HP:0001251	Ataxia
OMIM:220110	PET100	100131801	HP:0003128	Lactic acidosis
OMIM:220110	PET100	100131801	HP:0001263	Global developmental delay
OMIM:220110	PET100	100131801	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	PET100	100131801	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	PET100	100131801	HP:0003355	Aminoaciduria
OMIM:220110	PET100	100131801	HP:0000648	Optic atrophy
OMIM:220110	PET100	100131801	HP:0002098	Respiratory distress
OMIM:220110	PET100	100131801	HP:0000508	Ptosis
OMIM:220110	PET100	100131801	HP:0001290	Generalized hypotonia
OMIM:220110	PET100	100131801	HP:0002240	Hepatomegaly
OMIM:220110	PET100	100131801	HP:0003109	Hyperphosphaturia
OMIM:220110	PET100	100131801	HP:0000580	Pigmentary retinopathy
OMIM:220110	PET100	100131801	HP:0001508	Failure to thrive
OMIM:220110	PET100	100131801	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	PET100	100131801	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	PET100	100131801	HP:0001427	Mitochondrial inheritance
OMIM:220110	PET100	100131801	HP:0002490	Increased CSF lactate
OMIM:220110	PET100	100131801	HP:0001250	Seizures
OMIM:220110	PET100	100131801	HP:0001270	Motor delay
OMIM:220110	PET100	100131801	HP:0001425	Heterogeneous
OMIM:220110	PET100	100131801	HP:0002875	Exertional dyspnea
OMIM:220110	PET100	100131801	HP:0003546	Exercise intolerance
OMIM:220110	PET100	100131801	HP:0000007	Autosomal recessive inheritance
OMIM:220110	PET100	100131801	HP:0001903	Anemia
OMIM:220110	PET100	100131801	HP:0001994	Renal Fanconi syndrome
OMIM:220110	PET100	100131801	HP:0000093	Proteinuria
OMIM:220110	PET100	100131801	HP:0002151	Increased serum lactate
OMIM:220110	PET100	100131801	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	PET100	100131801	HP:0000124	Renal tubular dysfunction
OMIM:220110	PET100	100131801	HP:0003076	Glycosuria
OMIM:220110	APOPT1	84334	HP:0000407	Sensorineural hearing impairment
OMIM:220110	APOPT1	84334	HP:0001410	Decreased liver function
OMIM:220110	APOPT1	84334	HP:0001249	Intellectual disability
OMIM:220110	APOPT1	84334	HP:0001251	Ataxia
OMIM:220110	APOPT1	84334	HP:0003128	Lactic acidosis
OMIM:220110	APOPT1	84334	HP:0001263	Global developmental delay
OMIM:220110	APOPT1	84334	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	APOPT1	84334	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	APOPT1	84334	HP:0003355	Aminoaciduria
OMIM:220110	APOPT1	84334	HP:0000648	Optic atrophy
OMIM:220110	APOPT1	84334	HP:0002098	Respiratory distress
OMIM:220110	APOPT1	84334	HP:0000508	Ptosis
OMIM:220110	APOPT1	84334	HP:0001290	Generalized hypotonia
OMIM:220110	APOPT1	84334	HP:0002240	Hepatomegaly
OMIM:220110	APOPT1	84334	HP:0003109	Hyperphosphaturia
OMIM:220110	APOPT1	84334	HP:0000580	Pigmentary retinopathy
OMIM:220110	APOPT1	84334	HP:0001508	Failure to thrive
OMIM:220110	APOPT1	84334	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	APOPT1	84334	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	APOPT1	84334	HP:0001427	Mitochondrial inheritance
OMIM:220110	APOPT1	84334	HP:0002490	Increased CSF lactate
OMIM:220110	APOPT1	84334	HP:0001250	Seizures
OMIM:220110	APOPT1	84334	HP:0001270	Motor delay
OMIM:220110	APOPT1	84334	HP:0001425	Heterogeneous
OMIM:220110	APOPT1	84334	HP:0002875	Exertional dyspnea
OMIM:220110	APOPT1	84334	HP:0003546	Exercise intolerance
OMIM:220110	APOPT1	84334	HP:0000007	Autosomal recessive inheritance
OMIM:220110	APOPT1	84334	HP:0001903	Anemia
OMIM:220110	APOPT1	84334	HP:0001994	Renal Fanconi syndrome
OMIM:220110	APOPT1	84334	HP:0000093	Proteinuria
OMIM:220110	APOPT1	84334	HP:0002151	Increased serum lactate
OMIM:220110	APOPT1	84334	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	APOPT1	84334	HP:0000124	Renal tubular dysfunction
OMIM:220110	APOPT1	84334	HP:0003076	Glycosuria
OMIM:220110	FASTKD2	22868	HP:0000407	Sensorineural hearing impairment
OMIM:220110	FASTKD2	22868	HP:0001410	Decreased liver function
OMIM:220110	FASTKD2	22868	HP:0001249	Intellectual disability
OMIM:220110	FASTKD2	22868	HP:0001251	Ataxia
OMIM:220110	FASTKD2	22868	HP:0003128	Lactic acidosis
OMIM:220110	FASTKD2	22868	HP:0001263	Global developmental delay
OMIM:220110	FASTKD2	22868	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	FASTKD2	22868	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	FASTKD2	22868	HP:0003355	Aminoaciduria
OMIM:220110	FASTKD2	22868	HP:0000648	Optic atrophy
OMIM:220110	FASTKD2	22868	HP:0002098	Respiratory distress
OMIM:220110	FASTKD2	22868	HP:0000508	Ptosis
OMIM:220110	FASTKD2	22868	HP:0001290	Generalized hypotonia
OMIM:220110	FASTKD2	22868	HP:0002240	Hepatomegaly
OMIM:220110	FASTKD2	22868	HP:0003109	Hyperphosphaturia
OMIM:220110	FASTKD2	22868	HP:0000580	Pigmentary retinopathy
OMIM:220110	FASTKD2	22868	HP:0001508	Failure to thrive
OMIM:220110	FASTKD2	22868	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	FASTKD2	22868	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	FASTKD2	22868	HP:0001427	Mitochondrial inheritance
OMIM:220110	FASTKD2	22868	HP:0002490	Increased CSF lactate
OMIM:220110	FASTKD2	22868	HP:0001250	Seizures
OMIM:220110	FASTKD2	22868	HP:0001270	Motor delay
OMIM:220110	FASTKD2	22868	HP:0001425	Heterogeneous
OMIM:220110	FASTKD2	22868	HP:0002875	Exertional dyspnea
OMIM:220110	FASTKD2	22868	HP:0003546	Exercise intolerance
OMIM:220110	FASTKD2	22868	HP:0000007	Autosomal recessive inheritance
OMIM:220110	FASTKD2	22868	HP:0001903	Anemia
OMIM:220110	FASTKD2	22868	HP:0001994	Renal Fanconi syndrome
OMIM:220110	FASTKD2	22868	HP:0000093	Proteinuria
OMIM:220110	FASTKD2	22868	HP:0002151	Increased serum lactate
OMIM:220110	FASTKD2	22868	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	FASTKD2	22868	HP:0000124	Renal tubular dysfunction
OMIM:220110	FASTKD2	22868	HP:0003076	Glycosuria
OMIM:220110	TRNN	4570	HP:0000407	Sensorineural hearing impairment
OMIM:220110	TRNN	4570	HP:0001410	Decreased liver function
OMIM:220110	TRNN	4570	HP:0001249	Intellectual disability
OMIM:220110	TRNN	4570	HP:0001251	Ataxia
OMIM:220110	TRNN	4570	HP:0003128	Lactic acidosis
OMIM:220110	TRNN	4570	HP:0001263	Global developmental delay
OMIM:220110	TRNN	4570	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	TRNN	4570	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	TRNN	4570	HP:0003355	Aminoaciduria
OMIM:220110	TRNN	4570	HP:0000648	Optic atrophy
OMIM:220110	TRNN	4570	HP:0002098	Respiratory distress
OMIM:220110	TRNN	4570	HP:0000508	Ptosis
OMIM:220110	TRNN	4570	HP:0001290	Generalized hypotonia
OMIM:220110	TRNN	4570	HP:0002240	Hepatomegaly
OMIM:220110	TRNN	4570	HP:0003109	Hyperphosphaturia
OMIM:220110	TRNN	4570	HP:0000580	Pigmentary retinopathy
OMIM:220110	TRNN	4570	HP:0001508	Failure to thrive
OMIM:220110	TRNN	4570	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	TRNN	4570	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	TRNN	4570	HP:0001427	Mitochondrial inheritance
OMIM:220110	TRNN	4570	HP:0002490	Increased CSF lactate
OMIM:220110	TRNN	4570	HP:0001250	Seizures
OMIM:220110	TRNN	4570	HP:0001270	Motor delay
OMIM:220110	TRNN	4570	HP:0001425	Heterogeneous
OMIM:220110	TRNN	4570	HP:0002875	Exertional dyspnea
OMIM:220110	TRNN	4570	HP:0003546	Exercise intolerance
OMIM:220110	TRNN	4570	HP:0000007	Autosomal recessive inheritance
OMIM:220110	TRNN	4570	HP:0001903	Anemia
OMIM:220110	TRNN	4570	HP:0001994	Renal Fanconi syndrome
OMIM:220110	TRNN	4570	HP:0000093	Proteinuria
OMIM:220110	TRNN	4570	HP:0002151	Increased serum lactate
OMIM:220110	TRNN	4570	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	TRNN	4570	HP:0000124	Renal tubular dysfunction
OMIM:220110	TRNN	4570	HP:0003076	Glycosuria
OMIM:220110	COX14	84987	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX14	84987	HP:0001410	Decreased liver function
OMIM:220110	COX14	84987	HP:0001249	Intellectual disability
OMIM:220110	COX14	84987	HP:0001251	Ataxia
OMIM:220110	COX14	84987	HP:0003128	Lactic acidosis
OMIM:220110	COX14	84987	HP:0001263	Global developmental delay
OMIM:220110	COX14	84987	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX14	84987	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COX14	84987	HP:0003355	Aminoaciduria
OMIM:220110	COX14	84987	HP:0000648	Optic atrophy
OMIM:220110	COX14	84987	HP:0002098	Respiratory distress
OMIM:220110	COX14	84987	HP:0000508	Ptosis
OMIM:220110	COX14	84987	HP:0001290	Generalized hypotonia
OMIM:220110	COX14	84987	HP:0002240	Hepatomegaly
OMIM:220110	COX14	84987	HP:0003109	Hyperphosphaturia
OMIM:220110	COX14	84987	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX14	84987	HP:0001508	Failure to thrive
OMIM:220110	COX14	84987	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COX14	84987	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX14	84987	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX14	84987	HP:0002490	Increased CSF lactate
OMIM:220110	COX14	84987	HP:0001250	Seizures
OMIM:220110	COX14	84987	HP:0001270	Motor delay
OMIM:220110	COX14	84987	HP:0001425	Heterogeneous
OMIM:220110	COX14	84987	HP:0002875	Exertional dyspnea
OMIM:220110	COX14	84987	HP:0003546	Exercise intolerance
OMIM:220110	COX14	84987	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX14	84987	HP:0001903	Anemia
OMIM:220110	COX14	84987	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COX14	84987	HP:0000093	Proteinuria
OMIM:220110	COX14	84987	HP:0002151	Increased serum lactate
OMIM:220110	COX14	84987	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COX14	84987	HP:0000124	Renal tubular dysfunction
OMIM:220110	COX14	84987	HP:0003076	Glycosuria
OMIM:220110	COX6B1	1340	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX6B1	1340	HP:0001410	Decreased liver function
OMIM:220110	COX6B1	1340	HP:0001249	Intellectual disability
OMIM:220110	COX6B1	1340	HP:0001251	Ataxia
OMIM:220110	COX6B1	1340	HP:0003128	Lactic acidosis
OMIM:220110	COX6B1	1340	HP:0001263	Global developmental delay
OMIM:220110	COX6B1	1340	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX6B1	1340	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COX6B1	1340	HP:0003355	Aminoaciduria
OMIM:220110	COX6B1	1340	HP:0000648	Optic atrophy
OMIM:220110	COX6B1	1340	HP:0002098	Respiratory distress
OMIM:220110	COX6B1	1340	HP:0000508	Ptosis
OMIM:220110	COX6B1	1340	HP:0001290	Generalized hypotonia
OMIM:220110	COX6B1	1340	HP:0002240	Hepatomegaly
OMIM:220110	COX6B1	1340	HP:0003109	Hyperphosphaturia
OMIM:220110	COX6B1	1340	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX6B1	1340	HP:0001508	Failure to thrive
OMIM:220110	COX6B1	1340	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COX6B1	1340	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX6B1	1340	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX6B1	1340	HP:0002490	Increased CSF lactate
OMIM:220110	COX6B1	1340	HP:0001250	Seizures
OMIM:220110	COX6B1	1340	HP:0001270	Motor delay
OMIM:220110	COX6B1	1340	HP:0001425	Heterogeneous
OMIM:220110	COX6B1	1340	HP:0002875	Exertional dyspnea
OMIM:220110	COX6B1	1340	HP:0003546	Exercise intolerance
OMIM:220110	COX6B1	1340	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX6B1	1340	HP:0001903	Anemia
OMIM:220110	COX6B1	1340	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COX6B1	1340	HP:0000093	Proteinuria
OMIM:220110	COX6B1	1340	HP:0002151	Increased serum lactate
OMIM:220110	COX6B1	1340	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COX6B1	1340	HP:0000124	Renal tubular dysfunction
OMIM:220110	COX6B1	1340	HP:0003076	Glycosuria
OMIM:220110	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
OMIM:220110	TRNS1	4574	HP:0001410	Decreased liver function
OMIM:220110	TRNS1	4574	HP:0001249	Intellectual disability
OMIM:220110	TRNS1	4574	HP:0001251	Ataxia
OMIM:220110	TRNS1	4574	HP:0003128	Lactic acidosis
OMIM:220110	TRNS1	4574	HP:0001263	Global developmental delay
OMIM:220110	TRNS1	4574	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	TRNS1	4574	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	TRNS1	4574	HP:0003355	Aminoaciduria
OMIM:220110	TRNS1	4574	HP:0000648	Optic atrophy
OMIM:220110	TRNS1	4574	HP:0002098	Respiratory distress
OMIM:220110	TRNS1	4574	HP:0000508	Ptosis
OMIM:220110	TRNS1	4574	HP:0001290	Generalized hypotonia
OMIM:220110	TRNS1	4574	HP:0002240	Hepatomegaly
OMIM:220110	TRNS1	4574	HP:0003109	Hyperphosphaturia
OMIM:220110	TRNS1	4574	HP:0000580	Pigmentary retinopathy
OMIM:220110	TRNS1	4574	HP:0001508	Failure to thrive
OMIM:220110	TRNS1	4574	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	TRNS1	4574	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:220110	TRNS1	4574	HP:0002490	Increased CSF lactate
OMIM:220110	TRNS1	4574	HP:0001250	Seizures
OMIM:220110	TRNS1	4574	HP:0001270	Motor delay
OMIM:220110	TRNS1	4574	HP:0001425	Heterogeneous
OMIM:220110	TRNS1	4574	HP:0002875	Exertional dyspnea
OMIM:220110	TRNS1	4574	HP:0003546	Exercise intolerance
OMIM:220110	TRNS1	4574	HP:0000007	Autosomal recessive inheritance
OMIM:220110	TRNS1	4574	HP:0001903	Anemia
OMIM:220110	TRNS1	4574	HP:0001994	Renal Fanconi syndrome
OMIM:220110	TRNS1	4574	HP:0000093	Proteinuria
OMIM:220110	TRNS1	4574	HP:0002151	Increased serum lactate
OMIM:220110	TRNS1	4574	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	TRNS1	4574	HP:0000124	Renal tubular dysfunction
OMIM:220110	TRNS1	4574	HP:0003076	Glycosuria
OMIM:220110	COA5	493753	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COA5	493753	HP:0001410	Decreased liver function
OMIM:220110	COA5	493753	HP:0001249	Intellectual disability
OMIM:220110	COA5	493753	HP:0001251	Ataxia
OMIM:220110	COA5	493753	HP:0003128	Lactic acidosis
OMIM:220110	COA5	493753	HP:0001263	Global developmental delay
OMIM:220110	COA5	493753	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COA5	493753	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:220110	COA5	493753	HP:0003355	Aminoaciduria
OMIM:220110	COA5	493753	HP:0000648	Optic atrophy
OMIM:220110	COA5	493753	HP:0002098	Respiratory distress
OMIM:220110	COA5	493753	HP:0000508	Ptosis
OMIM:220110	COA5	493753	HP:0001290	Generalized hypotonia
OMIM:220110	COA5	493753	HP:0002240	Hepatomegaly
OMIM:220110	COA5	493753	HP:0003109	Hyperphosphaturia
OMIM:220110	COA5	493753	HP:0000580	Pigmentary retinopathy
OMIM:220110	COA5	493753	HP:0001508	Failure to thrive
OMIM:220110	COA5	493753	HP:0012240	Increased intramyocellular lipid droplets
OMIM:220110	COA5	493753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COA5	493753	HP:0001427	Mitochondrial inheritance
OMIM:220110	COA5	493753	HP:0002490	Increased CSF lactate
OMIM:220110	COA5	493753	HP:0001250	Seizures
OMIM:220110	COA5	493753	HP:0001270	Motor delay
OMIM:220110	COA5	493753	HP:0001425	Heterogeneous
OMIM:220110	COA5	493753	HP:0002875	Exertional dyspnea
OMIM:220110	COA5	493753	HP:0003546	Exercise intolerance
OMIM:220110	COA5	493753	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COA5	493753	HP:0001903	Anemia
OMIM:220110	COA5	493753	HP:0001994	Renal Fanconi syndrome
OMIM:220110	COA5	493753	HP:0000093	Proteinuria
OMIM:220110	COA5	493753	HP:0002151	Increased serum lactate
OMIM:220110	COA5	493753	HP:0006565	Increased hepatocellular lipid droplets
OMIM:220110	COA5	493753	HP:0000124	Renal tubular dysfunction
OMIM:220110	COA5	493753	HP:0003076	Glycosuria
ORPHA:2348	LMNA	4000	HP:0000855	Insulin resistance
ORPHA:2348	LMNA	4000	HP:0001597	Abnormality of the nail
ORPHA:2348	LMNA	4000	HP:0000819	Diabetes mellitus
ORPHA:2348	LMNA	4000	HP:0002155	Hypertriglyceridemia
ORPHA:2348	LMNA	4000	HP:0003712	Skeletal muscle hypertrophy
ORPHA:2348	LMNA	4000	HP:0000963	Thin skin
ORPHA:2348	LMNA	4000	HP:0006288	Advanced eruption of teeth
ORPHA:2348	LMNA	4000	HP:0000311	Round face
ORPHA:2348	LMNA	4000	HP:0000869	Secondary amenorrhea
ORPHA:2348	LMNA	4000	HP:0000991	Xanthomatosis
ORPHA:2348	LMNA	4000	HP:0002240	Hepatomegaly
ORPHA:2348	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:2348	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:41	ADAR	103	HP:0007988	Macular hypopigmentation
ORPHA:41	ADAR	103	HP:0011509	Macular hyperpigmentation
ORPHA:41	ADAR	103	HP:0001304	Torsion dystonia
ORPHA:41	ADAR	103	HP:0012733	Macule
OMIM:601709	PLAU	5328	HP:0000132	Menorrhagia
OMIM:601709	PLAU	5328	HP:0000978	Bruising susceptibility
OMIM:601709	PLAU	5328	HP:0008148	Impaired epinephrine-induced platelet aggregation
OMIM:601709	PLAU	5328	HP:0000421	Epistaxis
OMIM:601709	PLAU	5328	HP:0000006	Autosomal dominant inheritance
OMIM:601709	PLAU	5328	HP:0001873	Thrombocytopenia
OMIM:601709	PLAU	5328	HP:0005261	Joint hemorrhage
ORPHA:93383	ROR2	4920	HP:0001817	Absent fingernail
ORPHA:93383	ROR2	4920	HP:0005831	Type B brachydactyly
ORPHA:93383	ROR2	4920	HP:0010049	Short metacarpal
ORPHA:93383	ROR2	4920	HP:0001773	Short foot
ORPHA:93383	ROR2	4920	HP:0008083	2nd-5th toe middle phalangeal hypoplasia
ORPHA:93383	ROR2	4920	HP:0009882	Short distal phalanx of finger
OMIM:611131	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:611131	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:611131	NR2E3	10002	HP:0000642	Red-green dyschromatopsia
OMIM:611131	NR2E3	10002	HP:0000613	Photophobia
OMIM:611131	NR2E3	10002	HP:0000552	Tritanomaly
OMIM:611131	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:611131	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:611131	NR2E3	10002	HP:0000518	Cataract
OMIM:611131	NR2E3	10002	HP:0008028	Cystoid macular degeneration
OMIM:611131	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:136520	PAX6	5080	HP:0000505	Visual impairment
OMIM:136520	PAX6	5080	HP:0006934	Congenital nystagmus
OMIM:136520	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:136520	PAX6	5080	HP:0007750	Hypoplasia of the fovea
OMIM:136520	PAX6	5080	HP:0007819	Presenile cataracts
OMIM:614673	CEP135	9662	HP:0000340	Sloping forehead
OMIM:614673	CEP135	9662	HP:0000252	Microcephaly
OMIM:614673	CEP135	9662	HP:0010864	Intellectual disability, severe
OMIM:614673	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CEP135	9662	HP:0000278	Retrognathia
OMIM:614673	CEP135	9662	HP:0003577	Congenital onset
ORPHA:137608	PTEN	5728	HP:0100559	Lower limb asymmetry
ORPHA:137608	PTEN	5728	HP:0001482	Subcutaneous nodule
ORPHA:137608	PTEN	5728	HP:0100764	Lymphangioma
ORPHA:137608	PTEN	5728	HP:0004349	Reduced bone mineral density
ORPHA:137608	PTEN	5728	HP:0100761	Visceral angiomatosis
ORPHA:137608	PTEN	5728	HP:0200034	Papule
ORPHA:137608	PTEN	5728	HP:0005293	Venous insufficiency
ORPHA:137608	PTEN	5728	HP:0007392	Excessive wrinkled skin
ORPHA:137608	PTEN	5728	HP:0100026	Arteriovenous malformation
ORPHA:137608	PTEN	5728	HP:0100560	Upper limb asymmetry
OMIM:211530	SLC52A3	113278	HP:0002098	Respiratory distress
OMIM:211530	SLC52A3	113278	HP:0000544	External ophthalmoplegia
OMIM:211530	SLC52A3	113278	HP:0002093	Respiratory insufficiency
OMIM:211530	SLC52A3	113278	HP:0003701	Proximal muscle weakness
OMIM:211530	SLC52A3	113278	HP:0010307	Stridor
OMIM:211530	SLC52A3	113278	HP:0003676	Progressive
OMIM:211530	SLC52A3	113278	HP:0002058	Myopathic facies
OMIM:211530	SLC52A3	113278	HP:0000407	Sensorineural hearing impairment
OMIM:211530	SLC52A3	113278	HP:0009830	Peripheral neuropathy
OMIM:211530	SLC52A3	113278	HP:0002650	Scoliosis
OMIM:211530	SLC52A3	113278	HP:0000467	Neck muscle weakness
OMIM:211530	SLC52A3	113278	HP:0002312	Clumsiness
OMIM:211530	SLC52A3	113278	HP:0012473	Tongue atrophy
OMIM:211530	SLC52A3	113278	HP:0000508	Ptosis
OMIM:211530	SLC52A3	113278	HP:0001252	Muscular hypotonia
OMIM:211530	SLC52A3	113278	HP:0002015	Dysphagia
OMIM:211530	SLC52A3	113278	HP:0002808	Kyphosis
OMIM:211530	SLC52A3	113278	HP:0001605	Vocal cord paralysis
OMIM:211530	SLC52A3	113278	HP:0000007	Autosomal recessive inheritance
OMIM:211530	SLC52A3	113278	HP:0002877	Nocturnal hypoventilation
OMIM:211530	SLC52A3	113278	HP:0001283	Bulbar palsy
OMIM:211530	SLC52A3	113278	HP:0001621	Weak voice
OMIM:211530	SLC52A3	113278	HP:0011449	Knee clonus
OMIM:211530	SLC52A3	113278	HP:0007097	Cranial nerve motor loss
OMIM:211530	SLC52A3	113278	HP:0011448	Ankle clonus
OMIM:211530	SLC52A3	113278	HP:0010628	Facial palsy
OMIM:211530	SLC52A3	113278	HP:0002205	Recurrent respiratory infections
OMIM:211530	SLC52A3	113278	HP:0003621	Juvenile onset
OMIM:211530	SLC52A3	113278	HP:0009113	Diaphragmatic weakness
OMIM:211530	SLC52A3	113278	HP:0001308	Tongue fasciculations
OMIM:211530	SLC52A3	113278	HP:0009130	Hand muscle atrophy
OMIM:616052	ISPD	729920	HP:0030046	Hypoglycosylation of alpha-dystroglycan
OMIM:616052	ISPD	729920	HP:0003677	Slow progression
OMIM:616052	ISPD	729920	HP:0006785	Limb-girdle muscular dystrophy
OMIM:616052	ISPD	729920	HP:0003691	Scapular winging
OMIM:616052	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:616052	ISPD	729920	HP:0008981	Calf muscle hypertrophy
OMIM:616052	ISPD	729920	HP:0000158	Macroglossia
OMIM:616052	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615703	CEP19	84984	HP:0000027	Azoospermia
OMIM:615703	CEP19	84984	HP:0000855	Insulin resistance
OMIM:615703	CEP19	84984	HP:0001635	Congestive heart failure
OMIM:615703	CEP19	84984	HP:0000789	Infertility
OMIM:615703	CEP19	84984	HP:0001658	Myocardial infarction
OMIM:615703	CEP19	84984	HP:0000007	Autosomal recessive inheritance
OMIM:301200	AMELX	265	HP:0000705	Amelogenesis imperfecta
OMIM:301200	AMELX	265	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	AMELX	265	HP:0000691	Microdontia
OMIM:301200	AMELX	265	HP:0001423	X-linked dominant inheritance
OMIM:301200	AMELX	265	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	AMELX	265	HP:0200095	Anterior open bite
OMIM:301200	AMELX	265	HP:0003812	Phenotypic variability
OMIM:617183	ATAD3A	55210	HP:0000276	Long face
OMIM:617183	ATAD3A	55210	HP:0011968	Feeding difficulties
OMIM:617183	ATAD3A	55210	HP:0001760	Abnormality of the foot
OMIM:617183	ATAD3A	55210	HP:0003477	Peripheral axonal neuropathy
OMIM:617183	ATAD3A	55210	HP:0000007	Autosomal recessive inheritance
OMIM:617183	ATAD3A	55210	HP:0000582	Upslanted palpebral fissure
OMIM:617183	ATAD3A	55210	HP:0003693	Distal amyotrophy
OMIM:617183	ATAD3A	55210	HP:0003196	Short nose
OMIM:617183	ATAD3A	55210	HP:0000006	Autosomal dominant inheritance
OMIM:617183	ATAD3A	55210	HP:0000347	Micrognathia
OMIM:617183	ATAD3A	55210	HP:0001385	Hip dysplasia
OMIM:617183	ATAD3A	55210	HP:0000565	Esotropia
OMIM:617183	ATAD3A	55210	HP:0001290	Generalized hypotonia
OMIM:617183	ATAD3A	55210	HP:0002121	Absence seizures
OMIM:617183	ATAD3A	55210	HP:0001249	Intellectual disability
OMIM:617183	ATAD3A	55210	HP:0000648	Optic atrophy
OMIM:617183	ATAD3A	55210	HP:0000303	Mandibular prognathia
OMIM:617183	ATAD3A	55210	HP:0000639	Nystagmus
OMIM:617183	ATAD3A	55210	HP:0002540	Inability to walk
OMIM:617183	ATAD3A	55210	HP:0000348	High forehead
OMIM:617183	ATAD3A	55210	HP:0000490	Deeply set eye
OMIM:617183	ATAD3A	55210	HP:0003593	Infantile onset
OMIM:617183	ATAD3A	55210	HP:0008936	Muscular hypotonia of the trunk
OMIM:617183	ATAD3A	55210	HP:0000750	Delayed speech and language development
OMIM:617183	ATAD3A	55210	HP:0001263	Global developmental delay
OMIM:617183	ATAD3A	55210	HP:0002007	Frontal bossing
OMIM:617183	ATAD3A	55210	HP:0000545	Myopia
OMIM:617183	ATAD3A	55210	HP:0002650	Scoliosis
OMIM:617183	ATAD3A	55210	HP:0001272	Cerebellar atrophy
OMIM:617183	ATAD3A	55210	HP:0001251	Ataxia
OMIM:608836	CPT2	1376	HP:0000252	Microcephaly
OMIM:608836	CPT2	1376	HP:0002878	Respiratory failure
OMIM:608836	CPT2	1376	HP:0002910	Elevated hepatic transaminases
OMIM:608836	CPT2	1376	HP:0011675	Arrhythmia
OMIM:608836	CPT2	1376	HP:0000369	Low-set ears
OMIM:608836	CPT2	1376	HP:0000126	Hydronephrosis
OMIM:608836	CPT2	1376	HP:0002119	Ventriculomegaly
OMIM:608836	CPT2	1376	HP:0000218	High palate
OMIM:608836	CPT2	1376	HP:0000414	Bulbous nose
OMIM:608836	CPT2	1376	HP:0002104	Apnea
OMIM:608836	CPT2	1376	HP:0007229	Intracerebral periventricular calcifications
OMIM:608836	CPT2	1376	HP:0000518	Cataract
OMIM:608836	CPT2	1376	HP:0000340	Sloping forehead
OMIM:608836	CPT2	1376	HP:0002987	Elbow flexion contracture
OMIM:608836	CPT2	1376	HP:0000396	Overfolded helix
OMIM:608836	CPT2	1376	HP:0011309	Tapered toe
OMIM:608836	CPT2	1376	HP:0000358	Posteriorly rotated ears
OMIM:608836	CPT2	1376	HP:0002126	Polymicrogyria
OMIM:608836	CPT2	1376	HP:0007023	Antenatal intracerebral hemorrhage
OMIM:608836	CPT2	1376	HP:0000348	High forehead
OMIM:608836	CPT2	1376	HP:0001640	Cardiomegaly
OMIM:608836	CPT2	1376	HP:0011936	Decreased plasma total carnitine
OMIM:608836	CPT2	1376	HP:0003573	Increased total bilirubin
OMIM:608836	CPT2	1376	HP:0010511	Long toe
OMIM:608836	CPT2	1376	HP:0001182	Tapered finger
OMIM:608836	CPT2	1376	HP:0045016	Elevated serum long-chain fatty acids
OMIM:608836	CPT2	1376	HP:0008315	Decreased plasma free carnitine
OMIM:608836	CPT2	1376	HP:0006559	Hepatic calcification
OMIM:608836	CPT2	1376	HP:0001800	Hypoplastic toenails
OMIM:608836	CPT2	1376	HP:0001987	Hyperammonemia
OMIM:608836	CPT2	1376	HP:0001250	Seizures
OMIM:608836	CPT2	1376	HP:0000083	Renal insufficiency
OMIM:608836	CPT2	1376	HP:0000189	Narrow palate
OMIM:608836	CPT2	1376	HP:0001274	Agenesis of corpus callosum
OMIM:608836	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:608836	CPT2	1376	HP:0000073	Ureteral duplication
OMIM:608836	CPT2	1376	HP:0001319	Neonatal hypotonia
OMIM:608836	CPT2	1376	HP:0009058	Increased muscle lipid content
OMIM:608836	CPT2	1376	HP:0001958	Nonketotic hypoglycemia
OMIM:608836	CPT2	1376	HP:0006799	Basal ganglia cysts
OMIM:608836	CPT2	1376	HP:0008872	Feeding difficulties in infancy
OMIM:608836	CPT2	1376	HP:0001644	Dilated cardiomyopathy
OMIM:608836	CPT2	1376	HP:0001403	Macrovesicular hepatic steatosis
OMIM:608836	CPT2	1376	HP:0002240	Hepatomegaly
OMIM:608836	CPT2	1376	HP:0008293	Long-chain dicarboxylic aciduria
OMIM:608836	CPT2	1376	HP:0011220	Prominent forehead
OMIM:608836	CPT2	1376	HP:0006380	Knee flexion contracture
OMIM:608836	CPT2	1376	HP:0006610	Wide intermamillary distance
OMIM:608836	CPT2	1376	HP:0000113	Polycystic kidney dysplasia
OMIM:608836	CPT2	1376	HP:0000105	Enlarged kidney
OMIM:608836	CPT2	1376	HP:0002098	Respiratory distress
OMIM:608836	CPT2	1376	HP:0001254	Lethargy
OMIM:608836	CPT2	1376	HP:0001760	Abnormality of the foot
OMIM:300352	SLC6A8	6535	HP:0001290	Generalized hypotonia
OMIM:300352	SLC6A8	6535	HP:0000718	Aggressive behavior
OMIM:300352	SLC6A8	6535	HP:0001508	Failure to thrive
OMIM:300352	SLC6A8	6535	HP:0000303	Mandibular prognathia
OMIM:300352	SLC6A8	6535	HP:0004322	Short stature
OMIM:300352	SLC6A8	6535	HP:0011800	Midface retrusion
OMIM:300352	SLC6A8	6535	HP:0001257	Spasticity
OMIM:300352	SLC6A8	6535	HP:0012448	Delayed myelination
OMIM:300352	SLC6A8	6535	HP:0001382	Joint hypermobility
OMIM:300352	SLC6A8	6535	HP:0001288	Gait disturbance
OMIM:300352	SLC6A8	6535	HP:0007057	Poor hand-eye coordination
OMIM:300352	SLC6A8	6535	HP:0000337	Broad forehead
OMIM:300352	SLC6A8	6535	HP:0001263	Global developmental delay
OMIM:300352	SLC6A8	6535	HP:0000540	Hypermetropia
OMIM:300352	SLC6A8	6535	HP:0008872	Feeding difficulties in infancy
OMIM:300352	SLC6A8	6535	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300352	SLC6A8	6535	HP:0000275	Narrow face
OMIM:300352	SLC6A8	6535	HP:0000508	Ptosis
OMIM:300352	SLC6A8	6535	HP:0000098	Tall stature
OMIM:300352	SLC6A8	6535	HP:0003593	Infantile onset
OMIM:300352	SLC6A8	6535	HP:0002058	Myopathic facies
OMIM:300352	SLC6A8	6535	HP:0002251	Aganglionic megacolon
OMIM:300352	SLC6A8	6535	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300352	SLC6A8	6535	HP:0000272	Malar flattening
OMIM:300352	SLC6A8	6535	HP:0000733	Stereotypy
OMIM:300352	SLC6A8	6535	HP:0001270	Motor delay
OMIM:300352	SLC6A8	6535	HP:0001761	Pes cavus
OMIM:300352	SLC6A8	6535	HP:0000252	Microcephaly
OMIM:300352	SLC6A8	6535	HP:0002013	Vomiting
OMIM:300352	SLC6A8	6535	HP:0001419	X-linked recessive inheritance
OMIM:300352	SLC6A8	6535	HP:0000577	Exotropia
OMIM:300352	SLC6A8	6535	HP:0001332	Dystonia
OMIM:300352	SLC6A8	6535	HP:0002019	Constipation
OMIM:300352	SLC6A8	6535	HP:0001250	Seizures
OMIM:300352	SLC6A8	6535	HP:0001319	Neonatal hypotonia
OMIM:300352	SLC6A8	6535	HP:0008583	Underfolded superior helices
OMIM:300352	SLC6A8	6535	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300352	SLC6A8	6535	HP:0000276	Long face
OMIM:300352	SLC6A8	6535	HP:0000750	Delayed speech and language development
OMIM:300352	SLC6A8	6535	HP:0002595	Ileus
OMIM:300352	SLC6A8	6535	HP:0000735	Impaired social interactions
OMIM:300352	SLC6A8	6535	HP:0001249	Intellectual disability
OMIM:614424	TMEM237	65062	HP:0000369	Low-set ears
OMIM:614424	TMEM237	65062	HP:0002084	Encephalocele
OMIM:614424	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:614424	TMEM237	65062	HP:0000490	Deeply set eye
OMIM:614424	TMEM237	65062	HP:0000194	Open mouth
OMIM:614424	TMEM237	65062	HP:0000639	Nystagmus
OMIM:614424	TMEM237	65062	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM237	65062	HP:0000822	Hypertension
OMIM:614424	TMEM237	65062	HP:0000107	Renal cyst
OMIM:614424	TMEM237	65062	HP:0000737	Irritability
OMIM:614424	TMEM237	65062	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM237	65062	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM237	65062	HP:0001510	Growth delay
OMIM:614424	TMEM237	65062	HP:0001251	Ataxia
OMIM:614424	TMEM237	65062	HP:0000348	High forehead
OMIM:614424	TMEM237	65062	HP:0000589	Coloboma
OMIM:614424	TMEM237	65062	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM237	65062	HP:0000568	Microphthalmia
OMIM:614424	TMEM237	65062	HP:0000322	Short philtrum
OMIM:614424	TMEM237	65062	HP:0000286	Epicanthus
OMIM:614424	TMEM237	65062	HP:0025514	Morning glory anomaly
OMIM:614424	TMEM237	65062	HP:0000238	Hydrocephalus
OMIM:614424	TMEM237	65062	HP:0000508	Ptosis
OMIM:614424	TMEM237	65062	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM237	65062	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM237	65062	HP:0000486	Strabismus
OMIM:614424	TMEM237	65062	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM237	65062	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM237	65062	HP:0000316	Hypertelorism
OMIM:614424	TMEM237	65062	HP:0001290	Generalized hypotonia
OMIM:614424	TMEM237	65062	HP:0000272	Malar flattening
OMIM:615425	DST	667	HP:0000007	Autosomal recessive inheritance
OMIM:615425	DST	667	HP:0001075	Atrophic scars
OMIM:617087	MFN2	9927	HP:0000648	Optic atrophy
OMIM:617087	MFN2	9927	HP:0009027	Foot dorsiflexor weakness
OMIM:617087	MFN2	9927	HP:0000007	Autosomal recessive inheritance
OMIM:617087	MFN2	9927	HP:0003828	Variable expressivity
OMIM:617087	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:617087	MFN2	9927	HP:0000543	Optic disc pallor
OMIM:617087	MFN2	9927	HP:0002194	Delayed gross motor development
OMIM:617087	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:617087	MFN2	9927	HP:0003477	Peripheral axonal neuropathy
OMIM:617087	MFN2	9927	HP:0002650	Scoliosis
OMIM:617087	MFN2	9927	HP:0002808	Kyphosis
OMIM:617087	MFN2	9927	HP:0002355	Difficulty walking
OMIM:617087	MFN2	9927	HP:0001761	Pes cavus
ORPHA:1897	CDH3	1001	HP:0100257	Ectrodactyly
ORPHA:1897	CDH3	1001	HP:0000670	Carious teeth
ORPHA:1897	CDH3	1001	HP:0007754	Macular dystrophy
ORPHA:1897	CDH3	1001	HP:0001592	Selective tooth agenesis
ORPHA:1897	CDH3	1001	HP:0002223	Absent eyebrow
ORPHA:1897	CDH3	1001	HP:0002209	Sparse scalp hair
ORPHA:1897	CDH3	1001	HP:0002231	Sparse body hair
ORPHA:1897	CDH3	1001	HP:0006101	Finger syndactyly
ORPHA:1897	CDH3	1001	HP:0000687	Widely spaced teeth
ORPHA:1897	CDH3	1001	HP:0000691	Microdontia
ORPHA:1897	CDH3	1001	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1897	CDH3	1001	HP:0000488	Retinopathy
ORPHA:1897	CDH3	1001	HP:0000504	Abnormality of vision
OMIM:613507	GYG1	2992	HP:0000007	Autosomal recessive inheritance
OMIM:613507	GYG1	2992	HP:0004308	Ventricular arrhythmia
OMIM:613507	GYG1	2992	HP:0011712	Right bundle branch block
OMIM:613507	GYG1	2992	HP:0001324	Muscle weakness
OMIM:612132	NFKBIA	4792	HP:0000970	Anhidrosis
OMIM:612132	NFKBIA	4792	HP:0007476	Anhidrotic ectodermal dysplasia
OMIM:612132	NFKBIA	4792	HP:0000006	Autosomal dominant inheritance
OMIM:612132	NFKBIA	4792	HP:0011120	Concave nasal ridge
OMIM:612132	NFKBIA	4792	HP:0008070	Sparse hair
OMIM:612132	NFKBIA	4792	HP:0011136	Aplasia of the sweat glands
OMIM:612132	NFKBIA	4792	HP:0002007	Frontal bossing
OMIM:612132	NFKBIA	4792	HP:0002046	Heat intolerance
OMIM:612132	NFKBIA	4792	HP:0000668	Hypodontia
OMIM:612132	NFKBIA	4792	HP:0000698	Conical tooth
OMIM:612132	NFKBIA	4792	HP:0002205	Recurrent respiratory infections
OMIM:612132	NFKBIA	4792	HP:0000966	Hypohidrosis
OMIM:612132	NFKBIA	4792	HP:0003593	Infantile onset
OMIM:612132	NFKBIA	4792	HP:0004798	Recurrent infection of the gastrointestinal tract
OMIM:301500	GLA	2717	HP:0001250	Seizures
OMIM:301500	GLA	2717	HP:0001014	Angiokeratoma
OMIM:301500	GLA	2717	HP:0002013	Vomiting
OMIM:301500	GLA	2717	HP:0000083	Renal insufficiency
OMIM:301500	GLA	2717	HP:0001681	Angina pectoris
OMIM:301500	GLA	2717	HP:0002326	Transient ischemic attack
OMIM:301500	GLA	2717	HP:0000822	Hypertension
OMIM:301500	GLA	2717	HP:0002027	Abdominal pain
OMIM:301500	GLA	2717	HP:0000823	Delayed puberty
OMIM:301500	GLA	2717	HP:0002380	Fasciculations
OMIM:301500	GLA	2717	HP:0002018	Nausea
OMIM:301500	GLA	2717	HP:0003401	Paresthesia
OMIM:301500	GLA	2717	HP:0001419	X-linked recessive inheritance
OMIM:301500	GLA	2717	HP:0003394	Muscle cramps
OMIM:301500	GLA	2717	HP:0006536	Obstructive lung disease
OMIM:301500	GLA	2717	HP:0011675	Arrhythmia
OMIM:301500	GLA	2717	HP:0002014	Diarrhea
OMIM:301500	GLA	2717	HP:0001903	Anemia
OMIM:301500	GLA	2717	HP:0002459	Dysautonomia
OMIM:301500	GLA	2717	HP:0001131	Corneal dystrophy
OMIM:301500	GLA	2717	HP:0001155	Abnormality of the hand
OMIM:301500	GLA	2717	HP:0005144	Left ventricular septal hypertrophy
OMIM:301500	GLA	2717	HP:0001658	Myocardial infarction
OMIM:301500	GLA	2717	HP:0001712	Left ventricular hypertrophy
OMIM:301500	GLA	2717	HP:0001635	Congestive heart failure
OMIM:301500	GLA	2717	HP:0001004	Lymphedema
OMIM:301500	GLA	2717	HP:0000966	Hypohidrosis
OMIM:301500	GLA	2717	HP:0012702	Tenesmus
OMIM:301500	GLA	2717	HP:0000093	Proteinuria
OMIM:301500	GLA	2717	HP:0003621	Juvenile onset
OMIM:616500	COA5	493753	HP:0003577	Congenital onset
OMIM:616500	COA5	493753	HP:0000007	Autosomal recessive inheritance
OMIM:616500	COA5	493753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:272800	HEXA	3073	HP:0000726	Dementia
OMIM:272800	HEXA	3073	HP:0001290	Generalized hypotonia
OMIM:272800	HEXA	3073	HP:0010729	Cherry red spot of the macula
OMIM:272800	HEXA	3073	HP:0001250	Seizures
OMIM:272800	HEXA	3073	HP:0002361	Psychomotor deterioration
OMIM:272800	HEXA	3073	HP:0003593	Infantile onset
OMIM:272800	HEXA	3073	HP:0000007	Autosomal recessive inheritance
OMIM:272800	HEXA	3073	HP:0002835	Aspiration
OMIM:272800	HEXA	3073	HP:0000618	Blindness
OMIM:272800	HEXA	3073	HP:0003495	GM2-ganglioside accumulation
OMIM:272800	HEXA	3073	HP:0000741	Apathy
OMIM:272800	HEXA	3073	HP:0002421	Poor head control
OMIM:272800	HEXA	3073	HP:0002267	Exaggerated startle response
OMIM:272800	HEXA	3073	HP:0001252	Muscular hypotonia
ORPHA:46059	SC5D	6309	HP:0001336	Myoclonus
ORPHA:46059	SC5D	6309	HP:0001328	Specific learning disability
ORPHA:46059	SC5D	6309	HP:0001162	Postaxial hand polydactyly
ORPHA:46059	SC5D	6309	HP:0002435	Meningocele
ORPHA:46059	SC5D	6309	HP:0008736	Hypoplasia of penis
ORPHA:46059	SC5D	6309	HP:0001883	Talipes
ORPHA:46059	SC5D	6309	HP:0000293	Full cheeks
ORPHA:46059	SC5D	6309	HP:0001511	Intrauterine growth retardation
ORPHA:46059	SC5D	6309	HP:0001830	Postaxial foot polydactyly
ORPHA:46059	SC5D	6309	HP:0000482	Microcornea
ORPHA:46059	SC5D	6309	HP:0000212	Gingival overgrowth
ORPHA:46059	SC5D	6309	HP:0001263	Global developmental delay
ORPHA:46059	SC5D	6309	HP:0001250	Seizures
ORPHA:46059	SC5D	6309	HP:0000286	Epicanthus
ORPHA:46059	SC5D	6309	HP:0002308	Arnold-Chiari malformation
ORPHA:46059	SC5D	6309	HP:0008278	Cerebellar cortical atrophy
ORPHA:46059	SC5D	6309	HP:0000518	Cataract
ORPHA:46059	SC5D	6309	HP:0011875	Abnormal platelet morphology
ORPHA:46059	SC5D	6309	HP:0000085	Horseshoe kidney
ORPHA:46059	SC5D	6309	HP:0001873	Thrombocytopenia
ORPHA:46059	SC5D	6309	HP:0001770	Toe syndactyly
ORPHA:46059	SC5D	6309	HP:0000508	Ptosis
ORPHA:46059	SC5D	6309	HP:0000341	Narrow forehead
ORPHA:46059	SC5D	6309	HP:0000343	Long philtrum
ORPHA:46059	SC5D	6309	HP:0000347	Micrognathia
ORPHA:46059	SC5D	6309	HP:0001399	Hepatic failure
ORPHA:46059	SC5D	6309	HP:0000252	Microcephaly
ORPHA:46059	SC5D	6309	HP:0002714	Downturned corners of mouth
ORPHA:46059	SC5D	6309	HP:0000463	Anteverted nares
ORPHA:46059	SC5D	6309	HP:0000365	Hearing impairment
ORPHA:46059	SC5D	6309	HP:0001252	Muscular hypotonia
ORPHA:46059	SC5D	6309	HP:0001406	Intrahepatic cholestasis
ORPHA:46059	SC5D	6309	HP:0001508	Failure to thrive
ORPHA:46059	SC5D	6309	HP:0002514	Cerebral calcification
ORPHA:46059	SC5D	6309	HP:0100711	Abnormality of the thoracic spine
ORPHA:46059	SC5D	6309	HP:0000340	Sloping forehead
ORPHA:46059	SC5D	6309	HP:0002240	Hepatomegaly
ORPHA:46059	SC5D	6309	HP:0003196	Short nose
ORPHA:46059	SC5D	6309	HP:0000414	Bulbous nose
ORPHA:46059	SC5D	6309	HP:0000494	Downslanted palpebral fissures
ORPHA:46059	SC5D	6309	HP:0004823	Anisopoikilocytosis
ORPHA:46059	SC5D	6309	HP:0004422	Biparietal narrowing
ORPHA:46059	SC5D	6309	HP:0005487	Prominent metopic ridge
ORPHA:46059	SC5D	6309	HP:0007759	Opacification of the corneal stroma
ORPHA:46059	SC5D	6309	HP:0000218	High palate
OMIM:194050	ELN	2006	HP:0000973	Cutis laxa
OMIM:194050	ELN	2006	HP:0003196	Short nose
OMIM:194050	ELN	2006	HP:0000407	Sensorineural hearing impairment
OMIM:194050	ELN	2006	HP:0000010	Recurrent urinary tract infections
OMIM:194050	ELN	2006	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	ELN	2006	HP:0000089	Renal hypoplasia
OMIM:194050	ELN	2006	HP:0009748	Large earlobe
OMIM:194050	ELN	2006	HP:0001252	Muscular hypotonia
OMIM:194050	ELN	2006	HP:0002370	Poor coordination
OMIM:194050	ELN	2006	HP:0002751	Kyphoscoliosis
OMIM:194050	ELN	2006	HP:0000286	Epicanthus
OMIM:194050	ELN	2006	HP:0002141	Gait imbalance
OMIM:194050	ELN	2006	HP:0001371	Flexion contracture
OMIM:194050	ELN	2006	HP:0001511	Intrauterine growth retardation
OMIM:194050	ELN	2006	HP:0001249	Intellectual disability
OMIM:194050	ELN	2006	HP:0002019	Constipation
OMIM:194050	ELN	2006	HP:0200021	Down-sloping shoulders
OMIM:194050	ELN	2006	HP:0001388	Joint laxity
OMIM:194050	ELN	2006	HP:0008872	Feeding difficulties in infancy
OMIM:194050	ELN	2006	HP:0000455	Broad nasal tip
OMIM:194050	ELN	2006	HP:0000194	Open mouth
OMIM:194050	ELN	2006	HP:0001822	Hallux valgus
OMIM:194050	ELN	2006	HP:0012450	Chronic constipation
OMIM:194050	ELN	2006	HP:0004322	Short stature
OMIM:194050	ELN	2006	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	ELN	2006	HP:0008770	Obsessive-compulsive trait
OMIM:194050	ELN	2006	HP:0002035	Rectal prolapse
OMIM:194050	ELN	2006	HP:0000629	Periorbital fullness
OMIM:194050	ELN	2006	HP:0002020	Gastroesophageal reflux
OMIM:194050	ELN	2006	HP:0000015	Bladder diverticulum
OMIM:194050	ELN	2006	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	ELN	2006	HP:0000668	Hypodontia
OMIM:194050	ELN	2006	HP:0000341	Narrow forehead
OMIM:194050	ELN	2006	HP:0000581	Blepharophimosis
OMIM:194050	ELN	2006	HP:0000805	Enuresis
OMIM:194050	ELN	2006	HP:0000691	Microdontia
OMIM:194050	ELN	2006	HP:0000076	Vesicoureteral reflux
OMIM:194050	ELN	2006	HP:0000939	Osteoporosis
OMIM:194050	ELN	2006	HP:0000689	Dental malocclusion
OMIM:194050	ELN	2006	HP:0001290	Generalized hypotonia
OMIM:194050	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:194050	ELN	2006	HP:0001792	Small nail
OMIM:194050	ELN	2006	HP:0000403	Recurrent otitis media
OMIM:194050	ELN	2006	HP:0002183	Phonophobia
OMIM:194050	ELN	2006	HP:0001609	Hoarse voice
OMIM:194050	ELN	2006	HP:0001513	Obesity
OMIM:194050	ELN	2006	HP:0000293	Full cheeks
OMIM:194050	ELN	2006	HP:0008661	Urethral stenosis
OMIM:194050	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:194050	ELN	2006	HP:0000179	Thick lower lip vermilion
OMIM:194050	ELN	2006	HP:0001647	Bicuspid aortic valve
OMIM:194050	ELN	2006	HP:0000833	Glucose intolerance
OMIM:194050	ELN	2006	HP:0001634	Mitral valve prolapse
OMIM:194050	ELN	2006	HP:0000938	Osteopenia
OMIM:194050	ELN	2006	HP:0000977	Soft skin
OMIM:194050	ELN	2006	HP:0002216	Premature graying of hair
OMIM:194050	ELN	2006	HP:0000486	Strabismus
OMIM:194050	ELN	2006	HP:0002311	Incoordination
OMIM:194050	ELN	2006	HP:0011800	Midface retrusion
OMIM:194050	ELN	2006	HP:0000125	Pelvic kidney
OMIM:194050	ELN	2006	HP:0000343	Long philtrum
OMIM:194050	ELN	2006	HP:0001347	Hyperreflexia
OMIM:194050	ELN	2006	HP:0005145	Coronary artery stenosis
OMIM:194050	ELN	2006	HP:0000635	Blue irides
OMIM:194050	ELN	2006	HP:0005280	Depressed nasal bridge
OMIM:194050	ELN	2006	HP:0010780	Hyperacusis
OMIM:194050	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:194050	ELN	2006	HP:0000083	Renal insufficiency
OMIM:194050	ELN	2006	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	MLXIPL	51085	HP:0000973	Cutis laxa
OMIM:194050	MLXIPL	51085	HP:0003196	Short nose
OMIM:194050	MLXIPL	51085	HP:0000407	Sensorineural hearing impairment
OMIM:194050	MLXIPL	51085	HP:0000010	Recurrent urinary tract infections
OMIM:194050	MLXIPL	51085	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	MLXIPL	51085	HP:0000089	Renal hypoplasia
OMIM:194050	MLXIPL	51085	HP:0009748	Large earlobe
OMIM:194050	MLXIPL	51085	HP:0001252	Muscular hypotonia
OMIM:194050	MLXIPL	51085	HP:0002370	Poor coordination
OMIM:194050	MLXIPL	51085	HP:0002751	Kyphoscoliosis
OMIM:194050	MLXIPL	51085	HP:0000286	Epicanthus
OMIM:194050	MLXIPL	51085	HP:0002141	Gait imbalance
OMIM:194050	MLXIPL	51085	HP:0001371	Flexion contracture
OMIM:194050	MLXIPL	51085	HP:0001511	Intrauterine growth retardation
OMIM:194050	MLXIPL	51085	HP:0001249	Intellectual disability
OMIM:194050	MLXIPL	51085	HP:0002019	Constipation
OMIM:194050	MLXIPL	51085	HP:0200021	Down-sloping shoulders
OMIM:194050	MLXIPL	51085	HP:0001388	Joint laxity
OMIM:194050	MLXIPL	51085	HP:0008872	Feeding difficulties in infancy
OMIM:194050	MLXIPL	51085	HP:0000455	Broad nasal tip
OMIM:194050	MLXIPL	51085	HP:0000194	Open mouth
OMIM:194050	MLXIPL	51085	HP:0001822	Hallux valgus
OMIM:194050	MLXIPL	51085	HP:0012450	Chronic constipation
OMIM:194050	MLXIPL	51085	HP:0004322	Short stature
OMIM:194050	MLXIPL	51085	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	MLXIPL	51085	HP:0008770	Obsessive-compulsive trait
OMIM:194050	MLXIPL	51085	HP:0002035	Rectal prolapse
OMIM:194050	MLXIPL	51085	HP:0000629	Periorbital fullness
OMIM:194050	MLXIPL	51085	HP:0002020	Gastroesophageal reflux
OMIM:194050	MLXIPL	51085	HP:0000015	Bladder diverticulum
OMIM:194050	MLXIPL	51085	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	MLXIPL	51085	HP:0000668	Hypodontia
OMIM:194050	MLXIPL	51085	HP:0000341	Narrow forehead
OMIM:194050	MLXIPL	51085	HP:0000581	Blepharophimosis
OMIM:194050	MLXIPL	51085	HP:0000805	Enuresis
OMIM:194050	MLXIPL	51085	HP:0000691	Microdontia
OMIM:194050	MLXIPL	51085	HP:0000076	Vesicoureteral reflux
OMIM:194050	MLXIPL	51085	HP:0000939	Osteoporosis
OMIM:194050	MLXIPL	51085	HP:0000689	Dental malocclusion
OMIM:194050	MLXIPL	51085	HP:0001290	Generalized hypotonia
OMIM:194050	MLXIPL	51085	HP:0001642	Pulmonic stenosis
OMIM:194050	MLXIPL	51085	HP:0001792	Small nail
OMIM:194050	MLXIPL	51085	HP:0000403	Recurrent otitis media
OMIM:194050	MLXIPL	51085	HP:0002183	Phonophobia
OMIM:194050	MLXIPL	51085	HP:0001609	Hoarse voice
OMIM:194050	MLXIPL	51085	HP:0001513	Obesity
OMIM:194050	MLXIPL	51085	HP:0000293	Full cheeks
OMIM:194050	MLXIPL	51085	HP:0008661	Urethral stenosis
OMIM:194050	MLXIPL	51085	HP:0001653	Mitral regurgitation
OMIM:194050	MLXIPL	51085	HP:0000179	Thick lower lip vermilion
OMIM:194050	MLXIPL	51085	HP:0001647	Bicuspid aortic valve
OMIM:194050	MLXIPL	51085	HP:0000833	Glucose intolerance
OMIM:194050	MLXIPL	51085	HP:0001634	Mitral valve prolapse
OMIM:194050	MLXIPL	51085	HP:0000938	Osteopenia
OMIM:194050	MLXIPL	51085	HP:0000977	Soft skin
OMIM:194050	MLXIPL	51085	HP:0002216	Premature graying of hair
OMIM:194050	MLXIPL	51085	HP:0000486	Strabismus
OMIM:194050	MLXIPL	51085	HP:0002311	Incoordination
OMIM:194050	MLXIPL	51085	HP:0011800	Midface retrusion
OMIM:194050	MLXIPL	51085	HP:0000125	Pelvic kidney
OMIM:194050	MLXIPL	51085	HP:0000343	Long philtrum
OMIM:194050	MLXIPL	51085	HP:0001347	Hyperreflexia
OMIM:194050	MLXIPL	51085	HP:0005145	Coronary artery stenosis
OMIM:194050	MLXIPL	51085	HP:0000635	Blue irides
OMIM:194050	MLXIPL	51085	HP:0005280	Depressed nasal bridge
OMIM:194050	MLXIPL	51085	HP:0010780	Hyperacusis
OMIM:194050	MLXIPL	51085	HP:0000006	Autosomal dominant inheritance
OMIM:194050	MLXIPL	51085	HP:0000083	Renal insufficiency
OMIM:194050	MLXIPL	51085	HP:0010747	Medial flaring of the eyebrow
OMIM:267000	DIS3L2	129563	HP:0001561	Polyhydramnios
OMIM:267000	DIS3L2	129563	HP:0011611	Interrupted aortic arch
OMIM:267000	DIS3L2	129563	HP:0000369	Low-set ears
OMIM:267000	DIS3L2	129563	HP:0000969	Edema
OMIM:267000	DIS3L2	129563	HP:0002667	Nephroblastoma
OMIM:267000	DIS3L2	129563	HP:0008696	Renal hamartoma
OMIM:267000	DIS3L2	129563	HP:0000776	Congenital diaphragmatic hernia
OMIM:267000	DIS3L2	129563	HP:0100880	Nephrogenic rest
OMIM:267000	DIS3L2	129563	HP:0001274	Agenesis of corpus callosum
OMIM:267000	DIS3L2	129563	HP:0010804	Tented upper lip vermilion
OMIM:267000	DIS3L2	129563	HP:0001263	Global developmental delay
OMIM:267000	DIS3L2	129563	HP:0000194	Open mouth
OMIM:267000	DIS3L2	129563	HP:0000028	Cryptorchidism
OMIM:267000	DIS3L2	129563	HP:0002580	Volvulus
OMIM:267000	DIS3L2	129563	HP:0000007	Autosomal recessive inheritance
OMIM:267000	DIS3L2	129563	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:267000	DIS3L2	129563	HP:0008643	Nephroblastomatosis
OMIM:267000	DIS3L2	129563	HP:0000431	Wide nasal bridge
OMIM:267000	DIS3L2	129563	HP:0005247	Hypoplasia of the abdominal wall musculature
OMIM:267000	DIS3L2	129563	HP:0000347	Micrognathia
OMIM:267000	DIS3L2	129563	HP:0001999	Abnormal facial shape
OMIM:267000	DIS3L2	129563	HP:0001520	Large for gestational age
OMIM:267000	DIS3L2	129563	HP:0003271	Visceromegaly
OMIM:267000	DIS3L2	129563	HP:0011341	Long upper lip
OMIM:267000	DIS3L2	129563	HP:0001541	Ascites
OMIM:267000	DIS3L2	129563	HP:0200116	Distal ileal atresia
OMIM:267000	DIS3L2	129563	HP:0005280	Depressed nasal bridge
OMIM:603467	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCF	2188	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:602092	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:602092	USH1C	10083	HP:0000007	Autosomal recessive inheritance
ORPHA:3322	ACD	65057	HP:0001511	Intrauterine growth retardation
ORPHA:3322	ACD	65057	HP:0001276	Hypertonia
ORPHA:3322	ACD	65057	HP:0001263	Global developmental delay
ORPHA:3322	ACD	65057	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	ACD	65057	HP:0002119	Ventriculomegaly
ORPHA:3322	ACD	65057	HP:0008404	Nail dystrophy
ORPHA:3322	ACD	65057	HP:0001508	Failure to thrive
ORPHA:3322	ACD	65057	HP:0001873	Thrombocytopenia
ORPHA:3322	ACD	65057	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	ACD	65057	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	ACD	65057	HP:0000252	Microcephaly
ORPHA:3322	ACD	65057	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	ACD	65057	HP:0001928	Abnormality of coagulation
ORPHA:3322	ACD	65057	HP:0002745	Oral leukoplakia
ORPHA:3322	ACD	65057	HP:0002209	Sparse scalp hair
ORPHA:3322	ACD	65057	HP:0004334	Dermal atrophy
ORPHA:3322	ACD	65057	HP:0001249	Intellectual disability
ORPHA:3322	ACD	65057	HP:0004322	Short stature
ORPHA:3322	ACD	65057	HP:0001903	Anemia
ORPHA:3322	ACD	65057	HP:0002216	Premature graying of hair
ORPHA:3322	ACD	65057	HP:0002721	Immunodeficiency
ORPHA:3322	ACD	65057	HP:0007392	Excessive wrinkled skin
ORPHA:3322	PARN	5073	HP:0001511	Intrauterine growth retardation
ORPHA:3322	PARN	5073	HP:0001276	Hypertonia
ORPHA:3322	PARN	5073	HP:0001263	Global developmental delay
ORPHA:3322	PARN	5073	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	PARN	5073	HP:0002119	Ventriculomegaly
ORPHA:3322	PARN	5073	HP:0008404	Nail dystrophy
ORPHA:3322	PARN	5073	HP:0001508	Failure to thrive
ORPHA:3322	PARN	5073	HP:0001873	Thrombocytopenia
ORPHA:3322	PARN	5073	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	PARN	5073	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	PARN	5073	HP:0000252	Microcephaly
ORPHA:3322	PARN	5073	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	PARN	5073	HP:0001928	Abnormality of coagulation
ORPHA:3322	PARN	5073	HP:0002745	Oral leukoplakia
ORPHA:3322	PARN	5073	HP:0002209	Sparse scalp hair
ORPHA:3322	PARN	5073	HP:0004334	Dermal atrophy
ORPHA:3322	PARN	5073	HP:0001249	Intellectual disability
ORPHA:3322	PARN	5073	HP:0004322	Short stature
ORPHA:3322	PARN	5073	HP:0001903	Anemia
ORPHA:3322	PARN	5073	HP:0002216	Premature graying of hair
ORPHA:3322	PARN	5073	HP:0002721	Immunodeficiency
ORPHA:3322	PARN	5073	HP:0007392	Excessive wrinkled skin
ORPHA:3322	TINF2	26277	HP:0001511	Intrauterine growth retardation
ORPHA:3322	TINF2	26277	HP:0001276	Hypertonia
ORPHA:3322	TINF2	26277	HP:0001263	Global developmental delay
ORPHA:3322	TINF2	26277	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	TINF2	26277	HP:0002119	Ventriculomegaly
ORPHA:3322	TINF2	26277	HP:0008404	Nail dystrophy
ORPHA:3322	TINF2	26277	HP:0001508	Failure to thrive
ORPHA:3322	TINF2	26277	HP:0001873	Thrombocytopenia
ORPHA:3322	TINF2	26277	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	TINF2	26277	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	TINF2	26277	HP:0000252	Microcephaly
ORPHA:3322	TINF2	26277	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	TINF2	26277	HP:0001928	Abnormality of coagulation
ORPHA:3322	TINF2	26277	HP:0002745	Oral leukoplakia
ORPHA:3322	TINF2	26277	HP:0002209	Sparse scalp hair
ORPHA:3322	TINF2	26277	HP:0004334	Dermal atrophy
ORPHA:3322	TINF2	26277	HP:0001249	Intellectual disability
ORPHA:3322	TINF2	26277	HP:0004322	Short stature
ORPHA:3322	TINF2	26277	HP:0001903	Anemia
ORPHA:3322	TINF2	26277	HP:0002216	Premature graying of hair
ORPHA:3322	TINF2	26277	HP:0002721	Immunodeficiency
ORPHA:3322	TINF2	26277	HP:0007392	Excessive wrinkled skin
ORPHA:3322	RTEL1	51750	HP:0001511	Intrauterine growth retardation
ORPHA:3322	RTEL1	51750	HP:0001276	Hypertonia
ORPHA:3322	RTEL1	51750	HP:0001263	Global developmental delay
ORPHA:3322	RTEL1	51750	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	RTEL1	51750	HP:0002119	Ventriculomegaly
ORPHA:3322	RTEL1	51750	HP:0008404	Nail dystrophy
ORPHA:3322	RTEL1	51750	HP:0001508	Failure to thrive
ORPHA:3322	RTEL1	51750	HP:0001873	Thrombocytopenia
ORPHA:3322	RTEL1	51750	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	RTEL1	51750	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	RTEL1	51750	HP:0000252	Microcephaly
ORPHA:3322	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	RTEL1	51750	HP:0001928	Abnormality of coagulation
ORPHA:3322	RTEL1	51750	HP:0002745	Oral leukoplakia
ORPHA:3322	RTEL1	51750	HP:0002209	Sparse scalp hair
ORPHA:3322	RTEL1	51750	HP:0004334	Dermal atrophy
ORPHA:3322	RTEL1	51750	HP:0001249	Intellectual disability
ORPHA:3322	RTEL1	51750	HP:0004322	Short stature
ORPHA:3322	RTEL1	51750	HP:0001903	Anemia
ORPHA:3322	RTEL1	51750	HP:0002216	Premature graying of hair
ORPHA:3322	RTEL1	51750	HP:0002721	Immunodeficiency
ORPHA:3322	RTEL1	51750	HP:0007392	Excessive wrinkled skin
ORPHA:3322	TERT	7015	HP:0001511	Intrauterine growth retardation
ORPHA:3322	TERT	7015	HP:0001276	Hypertonia
ORPHA:3322	TERT	7015	HP:0001263	Global developmental delay
ORPHA:3322	TERT	7015	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	TERT	7015	HP:0002119	Ventriculomegaly
ORPHA:3322	TERT	7015	HP:0008404	Nail dystrophy
ORPHA:3322	TERT	7015	HP:0001508	Failure to thrive
ORPHA:3322	TERT	7015	HP:0001873	Thrombocytopenia
ORPHA:3322	TERT	7015	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	TERT	7015	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	TERT	7015	HP:0000252	Microcephaly
ORPHA:3322	TERT	7015	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	TERT	7015	HP:0001928	Abnormality of coagulation
ORPHA:3322	TERT	7015	HP:0002745	Oral leukoplakia
ORPHA:3322	TERT	7015	HP:0002209	Sparse scalp hair
ORPHA:3322	TERT	7015	HP:0004334	Dermal atrophy
ORPHA:3322	TERT	7015	HP:0001249	Intellectual disability
ORPHA:3322	TERT	7015	HP:0004322	Short stature
ORPHA:3322	TERT	7015	HP:0001903	Anemia
ORPHA:3322	TERT	7015	HP:0002216	Premature graying of hair
ORPHA:3322	TERT	7015	HP:0002721	Immunodeficiency
ORPHA:3322	TERT	7015	HP:0007392	Excessive wrinkled skin
ORPHA:3322	DKC1	1736	HP:0001511	Intrauterine growth retardation
ORPHA:3322	DKC1	1736	HP:0001276	Hypertonia
ORPHA:3322	DKC1	1736	HP:0001263	Global developmental delay
ORPHA:3322	DKC1	1736	HP:0007440	Generalized hyperpigmentation
ORPHA:3322	DKC1	1736	HP:0002119	Ventriculomegaly
ORPHA:3322	DKC1	1736	HP:0008404	Nail dystrophy
ORPHA:3322	DKC1	1736	HP:0001508	Failure to thrive
ORPHA:3322	DKC1	1736	HP:0001873	Thrombocytopenia
ORPHA:3322	DKC1	1736	HP:0011358	Generalized hypopigmentation of hair
ORPHA:3322	DKC1	1736	HP:0002120	Cerebral cortical atrophy
ORPHA:3322	DKC1	1736	HP:0000252	Microcephaly
ORPHA:3322	DKC1	1736	HP:0001321	Cerebellar hypoplasia
ORPHA:3322	DKC1	1736	HP:0001928	Abnormality of coagulation
ORPHA:3322	DKC1	1736	HP:0002745	Oral leukoplakia
ORPHA:3322	DKC1	1736	HP:0002209	Sparse scalp hair
ORPHA:3322	DKC1	1736	HP:0004334	Dermal atrophy
ORPHA:3322	DKC1	1736	HP:0001249	Intellectual disability
ORPHA:3322	DKC1	1736	HP:0004322	Short stature
ORPHA:3322	DKC1	1736	HP:0001903	Anemia
ORPHA:3322	DKC1	1736	HP:0002216	Premature graying of hair
ORPHA:3322	DKC1	1736	HP:0002721	Immunodeficiency
ORPHA:3322	DKC1	1736	HP:0007392	Excessive wrinkled skin
OMIM:608751	MYL3	4634	HP:0001723	Restrictive cardiomyopathy
OMIM:608751	MYL3	4634	HP:0001663	Ventricular fibrillation
OMIM:608751	MYL3	4634	HP:0006685	Endocardial fibrosis
OMIM:608751	MYL3	4634	HP:0000006	Autosomal dominant inheritance
OMIM:608751	MYL3	4634	HP:0001645	Sudden cardiac death
OMIM:608751	MYL3	4634	HP:0000007	Autosomal recessive inheritance
OMIM:608751	MYL3	4634	HP:0001962	Palpitations
OMIM:608751	MYL3	4634	HP:0002875	Exertional dyspnea
OMIM:608751	MYL3	4634	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613876	NEXN	91624	HP:0001638	Cardiomyopathy
OMIM:613876	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:613876	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:615555	PRLR	5618	HP:0000870	Prolactin excess
OMIM:615555	PRLR	5618	HP:0000006	Autosomal dominant inheritance
OMIM:600118	RAB3GAP1	22930	HP:0001321	Cerebellar hypoplasia
OMIM:600118	RAB3GAP1	22930	HP:0002219	Facial hypertrichosis
OMIM:600118	RAB3GAP1	22930	HP:0001274	Agenesis of corpus callosum
OMIM:600118	RAB3GAP1	22930	HP:0000028	Cryptorchidism
OMIM:600118	RAB3GAP1	22930	HP:0000482	Microcornea
OMIM:600118	RAB3GAP1	22930	HP:0000400	Macrotia
OMIM:600118	RAB3GAP1	22930	HP:0002059	Cerebral atrophy
OMIM:600118	RAB3GAP1	22930	HP:0000347	Micrognathia
OMIM:600118	RAB3GAP1	22930	HP:0000568	Microphthalmia
OMIM:600118	RAB3GAP1	22930	HP:0001347	Hyperreflexia
OMIM:600118	RAB3GAP1	22930	HP:0004322	Short stature
OMIM:600118	RAB3GAP1	22930	HP:0000252	Microcephaly
OMIM:600118	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:600118	RAB3GAP1	22930	HP:0001249	Intellectual disability
OMIM:600118	RAB3GAP1	22930	HP:0000519	Congenital cataract
OMIM:600118	RAB3GAP1	22930	HP:0001508	Failure to thrive
OMIM:600118	RAB3GAP1	22930	HP:0000939	Osteoporosis
OMIM:600118	RAB3GAP1	22930	HP:0000508	Ptosis
OMIM:600118	RAB3GAP1	22930	HP:0000648	Optic atrophy
OMIM:600118	RAB3GAP1	22930	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600118	RAB3GAP1	22930	HP:0001264	Spastic diplegia
OMIM:600118	RAB3GAP1	22930	HP:0001290	Generalized hypotonia
OMIM:600118	RAB3GAP1	22930	HP:0003241	External genital hypoplasia
OMIM:600118	RAB3GAP1	22930	HP:0000490	Deeply set eye
OMIM:600118	RAB3GAP1	22930	HP:0002751	Kyphoscoliosis
OMIM:613672	MTPAP	55149	HP:0001260	Dysarthria
OMIM:613672	MTPAP	55149	HP:0000639	Nystagmus
OMIM:613672	MTPAP	55149	HP:0001265	Hyporeflexia
OMIM:613672	MTPAP	55149	HP:0000750	Delayed speech and language development
OMIM:613672	MTPAP	55149	HP:0003677	Slow progression
OMIM:613672	MTPAP	55149	HP:0000007	Autosomal recessive inheritance
OMIM:613672	MTPAP	55149	HP:0000648	Optic atrophy
OMIM:613672	MTPAP	55149	HP:0002313	Spastic paraparesis
OMIM:613672	MTPAP	55149	HP:0002497	Spastic ataxia
OMIM:613672	MTPAP	55149	HP:0003487	Babinski sign
ORPHA:3366	FGFR1	2260	HP:0000664	Synophrys
ORPHA:3366	FGFR1	2260	HP:0000243	Trigonocephaly
ORPHA:3366	FGFR1	2260	HP:0000336	Prominent supraorbital ridges
ORPHA:3366	FGFR1	2260	HP:0000601	Hypotelorism
ORPHA:3366	FGFR1	2260	HP:0000431	Wide nasal bridge
ORPHA:3366	FREM1	158326	HP:0000664	Synophrys
ORPHA:3366	FREM1	158326	HP:0000243	Trigonocephaly
ORPHA:3366	FREM1	158326	HP:0000336	Prominent supraorbital ridges
ORPHA:3366	FREM1	158326	HP:0000601	Hypotelorism
ORPHA:3366	FREM1	158326	HP:0000431	Wide nasal bridge
OMIM:149200	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:149200	GJB2	2706	HP:0001820	Leukonychia
OMIM:149200	GJB2	2706	HP:0000365	Hearing impairment
ORPHA:90791	HSD3B2	3284	HP:0011968	Feeding difficulties
ORPHA:90791	HSD3B2	3284	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:90791	HSD3B2	3284	HP:0012412	Premature adrenarche
ORPHA:90791	HSD3B2	3284	HP:0001944	Dehydration
ORPHA:90791	HSD3B2	3284	HP:0008675	Enlarged polycystic ovaries
ORPHA:90791	HSD3B2	3284	HP:0002153	Hyperkalemia
ORPHA:90791	HSD3B2	3284	HP:0012605	Hypernatriuria
ORPHA:90791	HSD3B2	3284	HP:0008187	Absence of secondary sex characteristics
ORPHA:90791	HSD3B2	3284	HP:0000037	Male pseudohermaphroditism
ORPHA:90791	HSD3B2	3284	HP:0008258	Congenital adrenal hyperplasia
ORPHA:90791	HSD3B2	3284	HP:0030258	Hyperpigmented genitalia
ORPHA:90791	HSD3B2	3284	HP:0000028	Cryptorchidism
ORPHA:90791	HSD3B2	3284	HP:0001941	Acidosis
ORPHA:90791	HSD3B2	3284	HP:0008163	Decreased circulating cortisol level
ORPHA:90791	HSD3B2	3284	HP:0003154	Increased circulating ACTH level
ORPHA:90791	HSD3B2	3284	HP:0004319	Decreased circulating aldosterone level
ORPHA:90791	HSD3B2	3284	HP:0000939	Osteoporosis
ORPHA:90791	HSD3B2	3284	HP:0000840	Adrenogenital syndrome
ORPHA:90791	HSD3B2	3284	HP:0008665	Clitoral hypertrophy
ORPHA:90791	HSD3B2	3284	HP:0100779	Urogenital sinus anomaly
ORPHA:90791	HSD3B2	3284	HP:0000833	Glucose intolerance
ORPHA:90791	HSD3B2	3284	HP:0002750	Delayed skeletal maturation
ORPHA:90791	HSD3B2	3284	HP:0008226	Androgen insufficiency
ORPHA:90791	HSD3B2	3284	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:90791	HSD3B2	3284	HP:0000771	Gynecomastia
ORPHA:90791	HSD3B2	3284	HP:0001998	Neonatal hypoglycemia
ORPHA:90791	HSD3B2	3284	HP:0007440	Generalized hyperpigmentation
ORPHA:90791	HSD3B2	3284	HP:0002615	Hypotension
ORPHA:90791	HSD3B2	3284	HP:0012244	Abnormal sex determination
ORPHA:90791	HSD3B2	3284	HP:0000127	Renal salt wasting
ORPHA:90791	HSD3B2	3284	HP:0000033	Ambiguous genitalia, male
ORPHA:90791	HSD3B2	3284	HP:0000140	Abnormality of the menstrual cycle
ORPHA:90791	HSD3B2	3284	HP:0000823	Delayed puberty
ORPHA:90791	HSD3B2	3284	HP:0000868	Decreased fertility in females
ORPHA:90791	HSD3B2	3284	HP:0011106	Hypovolemia
ORPHA:90791	HSD3B2	3284	HP:0000048	Bifid scrotum
ORPHA:90791	HSD3B2	3284	HP:0012041	Decreased fertility in males
ORPHA:90791	HSD3B2	3284	HP:0004924	Abnormal oral glucose tolerance
ORPHA:90791	HSD3B2	3284	HP:0002902	Hyponatremia
ORPHA:90791	HSD3B2	3284	HP:0000051	Perineal hypospadias
ORPHA:90791	HSD3B2	3284	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:90791	HSD3B2	3284	HP:0000061	Ambiguous genitalia, female
ORPHA:90791	HSD3B2	3284	HP:0002013	Vomiting
ORPHA:90791	HSD3B2	3284	HP:0000855	Insulin resistance
ORPHA:90791	HSD3B2	3284	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:90791	HSD3B2	3284	HP:0005616	Accelerated skeletal maturation
ORPHA:90791	HSD3B2	3284	HP:0000848	Increased circulating renin level
ORPHA:90791	HSD3B2	3284	HP:0008734	Decreased testicular size
ORPHA:921	TBX22	50945	HP:0002974	Radioulnar synostosis
ORPHA:921	TBX22	50945	HP:0009465	Ulnar deviation of finger
ORPHA:921	TBX22	50945	HP:0012368	Flat face
ORPHA:921	TBX22	50945	HP:0000400	Macrotia
ORPHA:921	TBX22	50945	HP:0000407	Sensorineural hearing impairment
ORPHA:921	TBX22	50945	HP:0008743	Coronal hypospadias
ORPHA:921	TBX22	50945	HP:0000175	Cleft palate
ORPHA:921	TBX22	50945	HP:0000272	Malar flattening
ORPHA:921	TBX22	50945	HP:0000567	Chorioretinal coloboma
ORPHA:921	TBX22	50945	HP:0004322	Short stature
ORPHA:921	TBX22	50945	HP:0000612	Iris coloboma
ORPHA:93599	GRHPR	9380	HP:0000787	Nephrolithiasis
ORPHA:93599	GRHPR	9380	HP:0003159	Hyperoxaluria
ORPHA:93599	GRHPR	9380	HP:0000121	Nephrocalcinosis
ORPHA:93599	GRHPR	9380	HP:0000010	Recurrent urinary tract infections
ORPHA:93599	GRHPR	9380	HP:0006000	Ureteral obstruction
ORPHA:127	PHF6	84295	HP:0000581	Blepharophimosis
ORPHA:127	PHF6	84295	HP:0001252	Muscular hypotonia
ORPHA:127	PHF6	84295	HP:0000135	Hypogonadism
ORPHA:127	PHF6	84295	HP:0008736	Hypoplasia of penis
ORPHA:127	PHF6	84295	HP:0009748	Large earlobe
ORPHA:127	PHF6	84295	HP:0000280	Coarse facial features
ORPHA:127	PHF6	84295	HP:0000574	Thick eyebrow
ORPHA:127	PHF6	84295	HP:0008070	Sparse hair
ORPHA:127	PHF6	84295	HP:0000490	Deeply set eye
ORPHA:127	PHF6	84295	HP:0000028	Cryptorchidism
ORPHA:127	PHF6	84295	HP:0008734	Decreased testicular size
ORPHA:127	PHF6	84295	HP:0000771	Gynecomastia
ORPHA:127	PHF6	84295	HP:0001769	Broad foot
ORPHA:127	PHF6	84295	HP:0001956	Truncal obesity
ORPHA:127	PHF6	84295	HP:0000046	Scrotal hypoplasia
ORPHA:127	PHF6	84295	HP:0001249	Intellectual disability
ORPHA:127	PHF6	84295	HP:0001836	Camptodactyly of toe
ORPHA:127	PHF6	84295	HP:0000336	Prominent supraorbital ridges
ORPHA:127	PHF6	84295	HP:0001182	Tapered finger
ORPHA:127	PHF6	84295	HP:0000508	Ptosis
ORPHA:127	PHF6	84295	HP:0001831	Short toe
ORPHA:127	PHF6	84295	HP:0008872	Feeding difficulties in infancy
OMIM:615595	LYRM4	57128	HP:0000007	Autosomal recessive inheritance
OMIM:615595	LYRM4	57128	HP:0001397	Hepatic steatosis
OMIM:615595	LYRM4	57128	HP:0011968	Feeding difficulties
OMIM:615595	LYRM4	57128	HP:0001508	Failure to thrive
OMIM:615595	LYRM4	57128	HP:0002098	Respiratory distress
OMIM:615595	LYRM4	57128	HP:0001319	Neonatal hypotonia
OMIM:615595	LYRM4	57128	HP:0003128	Lactic acidosis
OMIM:616362	PPP2R1A	5518	HP:0000463	Anteverted nares
OMIM:616362	PPP2R1A	5518	HP:0001250	Seizures
OMIM:616362	PPP2R1A	5518	HP:0010721	Abnormal hair whorl
OMIM:616362	PPP2R1A	5518	HP:0001249	Intellectual disability
OMIM:616362	PPP2R1A	5518	HP:0002194	Delayed gross motor development
OMIM:616362	PPP2R1A	5518	HP:0000238	Hydrocephalus
OMIM:616362	PPP2R1A	5518	HP:0000316	Hypertelorism
OMIM:616362	PPP2R1A	5518	HP:0007758	Congenital visual impairment
OMIM:616362	PPP2R1A	5518	HP:0001382	Joint hypermobility
OMIM:616362	PPP2R1A	5518	HP:0000006	Autosomal dominant inheritance
OMIM:616362	PPP2R1A	5518	HP:0002119	Ventriculomegaly
OMIM:616362	PPP2R1A	5518	HP:0000494	Downslanted palpebral fissures
OMIM:616362	PPP2R1A	5518	HP:0001290	Generalized hypotonia
OMIM:616362	PPP2R1A	5518	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616362	PPP2R1A	5518	HP:0005487	Prominent metopic ridge
OMIM:616362	PPP2R1A	5518	HP:0010055	Broad hallux
OMIM:616362	PPP2R1A	5518	HP:0001357	Plagiocephaly
OMIM:616362	PPP2R1A	5518	HP:0000324	Facial asymmetry
OMIM:616362	PPP2R1A	5518	HP:0012448	Delayed myelination
OMIM:616362	PPP2R1A	5518	HP:0009179	Deviation of the 5th finger
OMIM:616362	PPP2R1A	5518	HP:0000194	Open mouth
OMIM:616362	PPP2R1A	5518	HP:0000767	Pectus excavatum
OMIM:616362	PPP2R1A	5518	HP:0001263	Global developmental delay
OMIM:616362	PPP2R1A	5518	HP:0000297	Facial hypotonia
OMIM:616362	PPP2R1A	5518	HP:0010804	Tented upper lip vermilion
OMIM:616487	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:616487	PLEC	5339	HP:0008404	Nail dystrophy
OMIM:616487	PLEC	5339	HP:0007556	Plantar hyperkeratosis
OMIM:306000	PHKA2	5256	HP:0001419	X-linked recessive inheritance
OMIM:306000	PHKA2	5256	HP:0001946	Ketosis
OMIM:306000	PHKA2	5256	HP:0002910	Elevated hepatic transaminases
OMIM:306000	PHKA2	5256	HP:0001510	Growth delay
OMIM:306000	PHKA2	5256	HP:0001943	Hypoglycemia
OMIM:306000	PHKA2	5256	HP:0001270	Motor delay
OMIM:306000	PHKA2	5256	HP:0002155	Hypertriglyceridemia
OMIM:306000	PHKA2	5256	HP:0003124	Hypercholesterolemia
OMIM:306000	PHKA2	5256	HP:0002240	Hepatomegaly
ORPHA:97240	ACTA1	58	HP:0003805	Rimmed vacuoles
ORPHA:97240	ACTA1	58	HP:0001319	Neonatal hypotonia
ORPHA:97240	ACTA1	58	HP:0002515	Waddling gait
ORPHA:97240	ACTA1	58	HP:0003555	Muscle fiber splitting
ORPHA:97240	ACTA1	58	HP:0003736	Autophagic vacuoles
ORPHA:97240	ACTA1	58	HP:0000473	Torticollis
ORPHA:97240	ACTA1	58	HP:0003551	Difficulty climbing stairs
ORPHA:97240	ACTA1	58	HP:0003715	Myofibrillar myopathy
ORPHA:97240	ACTA1	58	HP:0003713	Muscle fiber necrosis
ORPHA:97240	ACTA1	58	HP:0012899	Handgrip myotonia
ORPHA:97240	ACTA1	58	HP:0003798	Nemaline bodies
ORPHA:97240	ACTA1	58	HP:0000467	Neck muscle weakness
ORPHA:97240	ACTA1	58	HP:0001263	Global developmental delay
ORPHA:97240	ACTA1	58	HP:0006785	Limb-girdle muscular dystrophy
ORPHA:97240	ACTA1	58	HP:0003391	Gowers sign
ORPHA:97240	ACTA1	58	HP:0001558	Decreased fetal movement
ORPHA:97240	ACTA1	58	HP:0003458	EMG: myopathic abnormalities
ORPHA:97240	ACTA1	58	HP:0002460	Distal muscle weakness
ORPHA:97240	ACTA1	58	HP:0003327	Axial muscle weakness
ORPHA:97240	ACTA1	58	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:97240	ACTA1	58	HP:0010628	Facial palsy
OMIM:614830	POMGNT2	84892	HP:0001290	Generalized hypotonia
OMIM:614830	POMGNT2	84892	HP:0002119	Ventriculomegaly
OMIM:614830	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:614830	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:614830	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:614830	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:614830	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:614830	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:615722	NR2F1	7025	HP:0000486	Strabismus
OMIM:615722	NR2F1	7025	HP:0000639	Nystagmus
OMIM:615722	NR2F1	7025	HP:0001123	Visual field defect
OMIM:615722	NR2F1	7025	HP:0001249	Intellectual disability
OMIM:615722	NR2F1	7025	HP:0000543	Optic disc pallor
OMIM:615722	NR2F1	7025	HP:0000648	Optic atrophy
OMIM:615722	NR2F1	7025	HP:0007663	Reduced visual acuity
OMIM:615722	NR2F1	7025	HP:0000505	Visual impairment
OMIM:615722	NR2F1	7025	HP:0000006	Autosomal dominant inheritance
OMIM:615722	NR2F1	7025	HP:0001263	Global developmental delay
OMIM:615722	NR2F1	7025	HP:0001182	Tapered finger
OMIM:614898	VPS37A	137492	HP:0000750	Delayed speech and language development
OMIM:614898	VPS37A	137492	HP:0001263	Global developmental delay
OMIM:614898	VPS37A	137492	HP:0100543	Cognitive impairment
OMIM:614898	VPS37A	137492	HP:0002169	Clonus
OMIM:614898	VPS37A	137492	HP:0002808	Kyphosis
OMIM:614898	VPS37A	137492	HP:0001258	Spastic paraplegia
OMIM:614898	VPS37A	137492	HP:0001288	Gait disturbance
OMIM:614898	VPS37A	137492	HP:0000998	Hypertrichosis
OMIM:614898	VPS37A	137492	HP:0000007	Autosomal recessive inheritance
ORPHA:79410	COL7A1	1294	HP:0001056	Milia
ORPHA:79410	COL7A1	1294	HP:0000989	Pruritus
ORPHA:79410	COL7A1	1294	HP:0000987	Atypical scarring of skin
ORPHA:79410	COL7A1	1294	HP:0001810	Dystrophic toenail
ORPHA:79410	COL7A1	1294	HP:0008391	Dystrophic fingernails
OMIM:612798	EDN1	1906	HP:0000006	Autosomal dominant inheritance
OMIM:612798	EDN1	1906	HP:0030022	Question mark ear
OMIM:617506	PPP1CB	5500	HP:0001290	Generalized hypotonia
OMIM:617506	PPP1CB	5500	HP:0000396	Overfolded helix
OMIM:617506	PPP1CB	5500	HP:0011220	Prominent forehead
OMIM:617506	PPP1CB	5500	HP:0000957	Cafe-au-lait spot
OMIM:617506	PPP1CB	5500	HP:0001653	Mitral regurgitation
OMIM:617506	PPP1CB	5500	HP:0011712	Right bundle branch block
OMIM:617506	PPP1CB	5500	HP:0000369	Low-set ears
OMIM:617506	PPP1CB	5500	HP:0000470	Short neck
OMIM:617506	PPP1CB	5500	HP:0001363	Craniosynostosis
OMIM:617506	PPP1CB	5500	HP:0002750	Delayed skeletal maturation
OMIM:617506	PPP1CB	5500	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:617506	PPP1CB	5500	HP:0000358	Posteriorly rotated ears
OMIM:617506	PPP1CB	5500	HP:0004322	Short stature
OMIM:617506	PPP1CB	5500	HP:0000475	Broad neck
OMIM:617506	PPP1CB	5500	HP:0010648	Dermal translucency
OMIM:617506	PPP1CB	5500	HP:0002217	Slow-growing hair
OMIM:617506	PPP1CB	5500	HP:0000391	Thickened helices
OMIM:617506	PPP1CB	5500	HP:0001680	Coarctation of aorta
OMIM:617506	PPP1CB	5500	HP:0000218	High palate
OMIM:617506	PPP1CB	5500	HP:0000494	Downslanted palpebral fissures
OMIM:617506	PPP1CB	5500	HP:0001263	Global developmental delay
OMIM:617506	PPP1CB	5500	HP:0007099	Arnold-Chiari type I malformation
OMIM:617506	PPP1CB	5500	HP:0000465	Webbed neck
OMIM:617506	PPP1CB	5500	HP:0001642	Pulmonic stenosis
OMIM:617506	PPP1CB	5500	HP:0001508	Failure to thrive
OMIM:617506	PPP1CB	5500	HP:0001643	Patent ductus arteriosus
OMIM:617506	PPP1CB	5500	HP:0008070	Sparse hair
OMIM:617506	PPP1CB	5500	HP:0001629	Ventricular septal defect
OMIM:617506	PPP1CB	5500	HP:0001305	Dandy-Walker malformation
OMIM:617506	PPP1CB	5500	HP:0000028	Cryptorchidism
OMIM:617506	PPP1CB	5500	HP:0001655	Patent foramen ovale
OMIM:617506	PPP1CB	5500	HP:0000609	Optic nerve hypoplasia
OMIM:617506	PPP1CB	5500	HP:0001382	Joint hypermobility
OMIM:617506	PPP1CB	5500	HP:0001480	Freckling
OMIM:617506	PPP1CB	5500	HP:0000006	Autosomal dominant inheritance
OMIM:617506	PPP1CB	5500	HP:0000750	Delayed speech and language development
OMIM:617506	PPP1CB	5500	HP:0000316	Hypertelorism
OMIM:616739	HNMT	3176	HP:0003593	Infantile onset
OMIM:616739	HNMT	3176	HP:0001249	Intellectual disability
OMIM:616739	HNMT	3176	HP:0000252	Microcephaly
OMIM:616739	HNMT	3176	HP:0000750	Delayed speech and language development
OMIM:616739	HNMT	3176	HP:0010864	Intellectual disability, severe
OMIM:616739	HNMT	3176	HP:0001263	Global developmental delay
OMIM:616739	HNMT	3176	HP:0000007	Autosomal recessive inheritance
ORPHA:816	ALDH3A2	224	HP:0000545	Myopia
ORPHA:816	ALDH3A2	224	HP:0007440	Generalized hyperpigmentation
ORPHA:816	ALDH3A2	224	HP:0000962	Hyperkeratosis
ORPHA:816	ALDH3A2	224	HP:0001249	Intellectual disability
ORPHA:816	ALDH3A2	224	HP:0100533	Inflammatory abnormality of the eye
ORPHA:816	ALDH3A2	224	HP:0007256	Abnormal pyramidal signs
ORPHA:816	ALDH3A2	224	HP:0001250	Seizures
ORPHA:816	ALDH3A2	224	HP:0000958	Dry skin
ORPHA:816	ALDH3A2	224	HP:0002652	Skeletal dysplasia
ORPHA:816	ALDH3A2	224	HP:0007703	Abnormality of retinal pigmentation
ORPHA:816	ALDH3A2	224	HP:0000613	Photophobia
ORPHA:816	ALDH3A2	224	HP:0200020	Corneal erosion
ORPHA:816	ALDH3A2	224	HP:0001260	Dysarthria
ORPHA:816	ALDH3A2	224	HP:0002808	Kyphosis
ORPHA:816	ALDH3A2	224	HP:0000608	Macular degeneration
ORPHA:816	ALDH3A2	224	HP:0000488	Retinopathy
ORPHA:816	ALDH3A2	224	HP:0010783	Erythema
ORPHA:816	ALDH3A2	224	HP:0001264	Spastic diplegia
ORPHA:816	ALDH3A2	224	HP:0008064	Ichthyosis
OMIM:614262	NEK9	91754	HP:0000007	Autosomal recessive inheritance
OMIM:614262	NEK9	91754	HP:0001629	Ventricular septal defect
OMIM:614262	NEK9	91754	HP:0002099	Asthma
OMIM:614262	NEK9	91754	HP:0001631	Atrial septal defect
OMIM:614262	NEK9	91754	HP:0001047	Atopic dermatitis
OMIM:614262	NEK9	91754	HP:0001845	Overlapping toe
OMIM:614262	NEK9	91754	HP:0012385	Camptodactyly
OMIM:614262	NEK9	91754	HP:0002021	Pyloric stenosis
OMIM:614262	NEK9	91754	HP:0000293	Full cheeks
OMIM:614262	NEK9	91754	HP:0001642	Pulmonic stenosis
OMIM:614262	NEK9	91754	HP:0002804	Arthrogryposis multiplex congenita
OMIM:300055	MECP2	4204	HP:0003487	Babinski sign
OMIM:300055	MECP2	4204	HP:0001347	Hyperreflexia
OMIM:300055	MECP2	4204	HP:0002307	Drooling
OMIM:300055	MECP2	4204	HP:0002353	EEG abnormality
OMIM:300055	MECP2	4204	HP:0001337	Tremor
OMIM:300055	MECP2	4204	HP:0002362	Shuffling gait
OMIM:300055	MECP2	4204	HP:0000470	Short neck
OMIM:300055	MECP2	4204	HP:0001300	Parkinsonism
OMIM:300055	MECP2	4204	HP:0000053	Macroorchidism
OMIM:300055	MECP2	4204	HP:0000252	Microcephaly
OMIM:300055	MECP2	4204	HP:0001251	Ataxia
OMIM:300055	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300055	MECP2	4204	HP:0000297	Facial hypotonia
OMIM:300055	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300055	MECP2	4204	HP:0000347	Micrognathia
OMIM:300055	MECP2	4204	HP:0001761	Pes cavus
OMIM:300055	MECP2	4204	HP:0001250	Seizures
OMIM:300055	MECP2	4204	HP:0001266	Choreoathetosis
OMIM:300055	MECP2	4204	HP:0000400	Macrotia
OMIM:300055	MECP2	4204	HP:0003763	Bruxism
OMIM:300055	MECP2	4204	HP:0003677	Slow progression
OMIM:300055	MECP2	4204	HP:0003781	Excessive salivation
OMIM:300055	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300055	MECP2	4204	HP:0000218	High palate
OMIM:300055	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300055	MECP2	4204	HP:0002064	Spastic gait
OMIM:300055	MECP2	4204	HP:0000709	Psychosis
OMIM:300055	MECP2	4204	HP:0000164	Abnormality of the dentition
OMIM:614514	PROS1	5627	HP:0000618	Blindness
OMIM:614514	PROS1	5627	HP:0000007	Autosomal recessive inheritance
OMIM:614514	PROS1	5627	HP:0004855	Reduced protein S activity
OMIM:614514	PROS1	5627	HP:0005305	Cerebral venous thrombosis
OMIM:614514	PROS1	5627	HP:0005521	Disseminated intravascular coagulation
OMIM:614514	PROS1	5627	HP:0004420	Arterial thrombosis
OMIM:614514	PROS1	5627	HP:0001342	Cerebral hemorrhage
OMIM:614514	PROS1	5627	HP:0002204	Pulmonary embolism
OMIM:614514	PROS1	5627	HP:0002638	Superficial thrombophlebitis
OMIM:614514	PROS1	5627	HP:0100724	Hypercoagulability
OMIM:140700	HBA2	3040	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:140700	HBA2	3040	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBA2	3040	HP:0005511	Heinz body anemia
OMIM:140700	HBA2	3040	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:140700	HBB	3043	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:140700	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBB	3043	HP:0005511	Heinz body anemia
OMIM:140700	HBB	3043	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:140700	HBA1	3039	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:140700	HBA1	3039	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBA1	3039	HP:0005511	Heinz body anemia
OMIM:140700	HBA1	3039	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:604364	DEPDC5	9681	HP:0003829	Incomplete penetrance
OMIM:604364	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:604364	DEPDC5	9681	HP:0001250	Seizures
ORPHA:2092	PORCN	64840	HP:0000568	Microphthalmia
ORPHA:2092	PORCN	64840	HP:0000567	Chorioretinal coloboma
ORPHA:2092	PORCN	64840	HP:0001540	Diastasis recti
ORPHA:2092	PORCN	64840	HP:0007957	Corneal opacity
ORPHA:2092	PORCN	64840	HP:0012740	Papilloma
ORPHA:2092	PORCN	64840	HP:0009804	Reduced number of teeth
ORPHA:2092	PORCN	64840	HP:0001000	Abnormality of skin pigmentation
ORPHA:2092	PORCN	64840	HP:0010807	Open bite
ORPHA:2092	PORCN	64840	HP:0100543	Cognitive impairment
ORPHA:2092	PORCN	64840	HP:0002650	Scoliosis
ORPHA:2092	PORCN	64840	HP:0010783	Erythema
ORPHA:2092	PORCN	64840	HP:0006482	Abnormality of dental morphology
ORPHA:2092	PORCN	64840	HP:0100490	Camptodactyly of finger
ORPHA:2092	PORCN	64840	HP:0001083	Ectopia lentis
ORPHA:2092	PORCN	64840	HP:0001482	Subcutaneous nodule
ORPHA:2092	PORCN	64840	HP:0100559	Lower limb asymmetry
ORPHA:2092	PORCN	64840	HP:0006101	Finger syndactyly
ORPHA:2092	PORCN	64840	HP:0000324	Facial asymmetry
ORPHA:2092	PORCN	64840	HP:0000365	Hearing impairment
ORPHA:2092	PORCN	64840	HP:0100585	Telangiectasia of the skin
ORPHA:2092	PORCN	64840	HP:0000486	Strabismus
ORPHA:2092	PORCN	64840	HP:0100560	Upper limb asymmetry
ORPHA:2092	PORCN	64840	HP:0001171	Split hand
ORPHA:2092	PORCN	64840	HP:0000682	Abnormality of dental enamel
ORPHA:2092	PORCN	64840	HP:0001018	Abnormal palmar dermatoglyphics
ORPHA:2092	PORCN	64840	HP:0000085	Horseshoe kidney
ORPHA:2092	PORCN	64840	HP:0007676	Hypoplasia of the iris
ORPHA:2092	PORCN	64840	HP:0000612	Iris coloboma
ORPHA:2092	PORCN	64840	HP:0000773	Short ribs
ORPHA:2092	PORCN	64840	HP:0008839	Hypoplastic pelvis
ORPHA:2092	PORCN	64840	HP:0001597	Abnormality of the nail
ORPHA:2092	PORCN	64840	HP:0000963	Thin skin
ORPHA:2092	PORCN	64840	HP:0001839	Split foot
ORPHA:2092	PORCN	64840	HP:0001596	Alopecia
ORPHA:2092	PORCN	64840	HP:0000894	Short clavicles
ORPHA:2092	PORCN	64840	HP:0001161	Hand polydactyly
ORPHA:2092	PORCN	64840	HP:0002414	Spina bifida
ORPHA:2092	PORCN	64840	HP:0000369	Low-set ears
ORPHA:2092	PORCN	64840	HP:0000370	Abnormality of the middle ear
ORPHA:2092	PORCN	64840	HP:0004334	Dermal atrophy
ORPHA:2092	PORCN	64840	HP:0100670	Rough bone trabeculation
ORPHA:2092	PORCN	64840	HP:0012733	Macule
ORPHA:2092	PORCN	64840	HP:0000003	Multicystic kidney dysplasia
ORPHA:2092	PORCN	64840	HP:0001770	Toe syndactyly
ORPHA:2092	PORCN	64840	HP:0005930	Abnormality of epiphysis morphology
ORPHA:661	PHOX2B	8929	HP:0002093	Respiratory insufficiency
ORPHA:661	BDNF	627	HP:0002093	Respiratory insufficiency
ORPHA:661	EDN3	1908	HP:0002093	Respiratory insufficiency
ORPHA:661	GDNF	2668	HP:0002093	Respiratory insufficiency
ORPHA:281201	POMP	51371	HP:0008064	Ichthyosis
ORPHA:281201	POMP	51371	HP:0000982	Palmoplantar keratoderma
OMIM:600886	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:600886	FTL	2512	HP:0008024	Congenital nuclear cataract
OMIM:600886	FTL	2512	HP:0003281	Increased serum ferritin
OMIM:613370	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:613370	INS	3630	HP:0004904	Maturity-onset diabetes of the young
OMIM:241410	TBCE	6905	HP:0001249	Intellectual disability
OMIM:241410	TBCE	6905	HP:0002199	Hypocalcemic seizures
OMIM:241410	TBCE	6905	HP:0002119	Ventriculomegaly
OMIM:241410	TBCE	6905	HP:0012448	Delayed myelination
OMIM:241410	TBCE	6905	HP:0008846	Severe intrauterine growth retardation
OMIM:241410	TBCE	6905	HP:0002750	Delayed skeletal maturation
OMIM:241410	TBCE	6905	HP:0000252	Microcephaly
OMIM:241410	TBCE	6905	HP:0008897	Postnatal growth retardation
OMIM:241410	TBCE	6905	HP:0000358	Posteriorly rotated ears
OMIM:241410	TBCE	6905	HP:0000343	Long philtrum
OMIM:241410	TBCE	6905	HP:0000193	Bifid uvula
OMIM:241410	TBCE	6905	HP:0011220	Prominent forehead
OMIM:241410	TBCE	6905	HP:0000347	Micrognathia
OMIM:241410	TBCE	6905	HP:0000444	Convex nasal ridge
OMIM:241410	TBCE	6905	HP:0005686	Patchy osteosclerosis
OMIM:241410	TBCE	6905	HP:0002079	Hypoplasia of the corpus callosum
OMIM:241410	TBCE	6905	HP:0000028	Cryptorchidism
OMIM:241410	TBCE	6905	HP:0000233	Thin vermilion border
OMIM:241410	TBCE	6905	HP:0000007	Autosomal recessive inheritance
OMIM:241410	TBCE	6905	HP:0008198	Congenital hypoparathyroidism
OMIM:241410	TBCE	6905	HP:0000490	Deeply set eye
OMIM:241410	TBCE	6905	HP:0004279	Short palm
OMIM:241410	TBCE	6905	HP:0000824	Growth hormone deficiency
OMIM:241410	TBCE	6905	HP:0000054	Micropenis
OMIM:241410	TBCE	6905	HP:0002905	Hyperphosphatemia
OMIM:241410	TBCE	6905	HP:0001773	Short foot
OMIM:241410	TBCE	6905	HP:0002007	Frontal bossing
OMIM:241410	TBCE	6905	HP:0002718	Recurrent bacterial infections
OMIM:241410	TBCE	6905	HP:0000369	Low-set ears
OMIM:241410	TBCE	6905	HP:0005280	Depressed nasal bridge
OMIM:241410	TBCE	6905	HP:0200055	Small hand
OMIM:241410	TBCE	6905	HP:0001281	Tetany
OMIM:217700	SLC4A11	83959	HP:0007759	Opacification of the corneal stroma
OMIM:217700	SLC4A11	83959	HP:0000007	Autosomal recessive inheritance
OMIM:217700	SLC4A11	83959	HP:0008005	Congenital corneal dystrophy
OMIM:613977	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:613977	HBG2	3048	HP:0012119	Methemoglobinemia
OMIM:613977	HBG2	3048	HP:0000961	Cyanosis
OMIM:613977	HBG2	3048	HP:0003577	Congenital onset
OMIM:614869	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614869	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:614869	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:614869	CIB2	10518	HP:0003577	Congenital onset
OMIM:614869	CIB2	10518	HP:0001270	Motor delay
OMIM:158590	HSPB8	26353	HP:0002522	Areflexia of lower limbs
OMIM:158590	HSPB8	26353	HP:0002601	Paresis of extensor muscles of the big toe
OMIM:158590	HSPB8	26353	HP:0003445	EMG: neuropathic changes
OMIM:158590	HSPB8	26353	HP:0009053	Distal lower limb muscle weakness
OMIM:158590	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:158590	HSPB8	26353	HP:0002600	Hyporeflexia of lower limbs
OMIM:162200	NF1	4763	HP:0000238	Hydrocephalus
OMIM:162200	NF1	4763	HP:0000316	Hypertelorism
OMIM:162200	NF1	4763	HP:0002859	Rhabdomyosarcoma
OMIM:162200	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:162200	NF1	4763	HP:0001548	Overgrowth
OMIM:162200	NF1	4763	HP:0001256	Intellectual disability, mild
OMIM:162200	NF1	4763	HP:0009592	Astrocytoma
OMIM:162200	NF1	4763	HP:0000997	Axillary freckling
OMIM:162200	NF1	4763	HP:0002414	Spina bifida
OMIM:162200	NF1	4763	HP:0100697	Neurofibrosarcoma
OMIM:162200	NF1	4763	HP:0002897	Parathyroid adenoma
OMIM:162200	NF1	4763	HP:0030052	Inguinal freckling
OMIM:162200	NF1	4763	HP:0000822	Hypertension
ORPHA:79280	NAGA	4668	HP:0005280	Depressed nasal bridge
ORPHA:79280	NAGA	4668	HP:0000214	Lip telangiectasia
ORPHA:79280	NAGA	4668	HP:0009830	Peripheral neuropathy
ORPHA:79280	NAGA	4668	HP:0000962	Hyperkeratosis
ORPHA:79280	NAGA	4668	HP:0000280	Coarse facial features
ORPHA:79280	NAGA	4668	HP:0001071	Angiokeratoma corporis diffusum
ORPHA:79280	NAGA	4668	HP:0100585	Telangiectasia of the skin
ORPHA:79280	NAGA	4668	HP:0200034	Papule
ORPHA:79280	NAGA	4668	HP:0000360	Tinnitus
ORPHA:79280	NAGA	4668	HP:0001482	Subcutaneous nodule
ORPHA:79280	NAGA	4668	HP:0001004	Lymphedema
ORPHA:79280	NAGA	4668	HP:0007428	Telangiectasia of the oral mucosa
ORPHA:79280	NAGA	4668	HP:0007759	Opacification of the corneal stroma
ORPHA:79280	NAGA	4668	HP:0000365	Hearing impairment
ORPHA:79280	NAGA	4668	HP:0002321	Vertigo
ORPHA:79280	NAGA	4668	HP:0012471	Thick vermilion border
ORPHA:79280	NAGA	4668	HP:0001640	Cardiomegaly
ORPHA:79280	NAGA	4668	HP:0001256	Intellectual disability, mild
OMIM:617225	ATP13A2	23400	HP:0001347	Hyperreflexia
OMIM:617225	ATP13A2	23400	HP:0000605	Supranuclear gaze palsy
OMIM:617225	ATP13A2	23400	HP:0001288	Gait disturbance
OMIM:617225	ATP13A2	23400	HP:0002936	Distal sensory impairment
OMIM:617225	ATP13A2	23400	HP:0003487	Babinski sign
OMIM:617225	ATP13A2	23400	HP:0000639	Nystagmus
OMIM:617225	ATP13A2	23400	HP:0002120	Cerebral cortical atrophy
OMIM:617225	ATP13A2	23400	HP:0001258	Spastic paraplegia
OMIM:617225	ATP13A2	23400	HP:0000738	Hallucinations
OMIM:617225	ATP13A2	23400	HP:0001260	Dysarthria
OMIM:617225	ATP13A2	23400	HP:0002510	Spastic tetraplegia
OMIM:617225	ATP13A2	23400	HP:0000007	Autosomal recessive inheritance
OMIM:617225	ATP13A2	23400	HP:0001251	Ataxia
OMIM:617225	ATP13A2	23400	HP:0001272	Cerebellar atrophy
OMIM:617225	ATP13A2	23400	HP:0000718	Aggressive behavior
OMIM:256100	NPHP1	4867	HP:0000822	Hypertension
OMIM:256100	NPHP1	4867	HP:0001510	Growth delay
OMIM:256100	NPHP1	4867	HP:0005583	Tubular basement membrane disintegration
OMIM:256100	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:256100	NPHP1	4867	HP:0000108	Renal corticomedullary cysts
OMIM:256100	NPHP1	4867	HP:0001903	Anemia
OMIM:256100	NPHP1	4867	HP:0000092	Tubular atrophy
OMIM:256100	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:256100	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:256100	NPHP1	4867	HP:0005576	Tubulointerstitial fibrosis
OMIM:256100	NPHP1	4867	HP:0003158	Hyposthenuria
OMIM:256100	NPHP1	4867	HP:0000103	Polyuria
OMIM:256100	NPHP1	4867	HP:0001959	Polydipsia
OMIM:277590	EZH2	2146	HP:0001263	Global developmental delay
OMIM:277590	EZH2	2146	HP:0001816	Thin nail
OMIM:277590	EZH2	2146	HP:0000311	Round face
OMIM:277590	EZH2	2146	HP:0000278	Retrognathia
OMIM:277590	EZH2	2146	HP:0002834	Flared femoral metaphysis
OMIM:277590	EZH2	2146	HP:0001249	Intellectual disability
OMIM:277590	EZH2	2146	HP:0001260	Dysarthria
OMIM:277590	EZH2	2146	HP:0002213	Fine hair
OMIM:277590	EZH2	2146	HP:0010300	Abnormally low-pitched voice
OMIM:277590	EZH2	2146	HP:0000486	Strabismus
OMIM:277590	EZH2	2146	HP:0000494	Downslanted palpebral fissures
OMIM:277590	EZH2	2146	HP:0000400	Macrotia
OMIM:277590	EZH2	2146	HP:0000973	Cutis laxa
OMIM:277590	EZH2	2146	HP:0001761	Pes cavus
OMIM:277590	EZH2	2146	HP:0001537	Umbilical hernia
OMIM:277590	EZH2	2146	HP:0001840	Metatarsus adductus
OMIM:277590	EZH2	2146	HP:0001350	Slurred speech
OMIM:277590	EZH2	2146	HP:0001290	Generalized hypotonia
OMIM:277590	EZH2	2146	HP:0001377	Limited elbow extension
OMIM:277590	EZH2	2146	HP:0001276	Hypertonia
OMIM:277590	EZH2	2146	HP:0000316	Hypertelorism
OMIM:277590	EZH2	2146	HP:0001212	Prominent fingertip pads
OMIM:277590	EZH2	2146	HP:0002866	Hypoplastic iliac wing
OMIM:277590	EZH2	2146	HP:0001250	Seizures
OMIM:277590	EZH2	2146	HP:0001331	Absent septum pellucidum
OMIM:277590	EZH2	2146	HP:0003911	Flared humeral metaphysis
OMIM:277590	EZH2	2146	HP:0001540	Diastasis recti
OMIM:277590	EZH2	2146	HP:0002673	Coxa valga
OMIM:277590	EZH2	2146	HP:0000034	Hydrocele testis
OMIM:277590	EZH2	2146	HP:0001845	Overlapping toe
OMIM:277590	EZH2	2146	HP:0000256	Macrocephaly
OMIM:277590	EZH2	2146	HP:0000750	Delayed speech and language development
OMIM:277590	EZH2	2146	HP:0002808	Kyphosis
OMIM:277590	EZH2	2146	HP:0000708	Behavioral abnormality
OMIM:277590	EZH2	2146	HP:0005616	Accelerated skeletal maturation
OMIM:277590	EZH2	2146	HP:0012385	Camptodactyly
OMIM:277590	EZH2	2146	HP:0001176	Large hands
OMIM:277590	EZH2	2146	HP:0001762	Talipes equinovarus
OMIM:277590	EZH2	2146	HP:0009466	Radial deviation of finger
OMIM:277590	EZH2	2146	HP:0000006	Autosomal dominant inheritance
OMIM:277590	EZH2	2146	HP:0005280	Depressed nasal bridge
OMIM:277590	EZH2	2146	HP:0001257	Spasticity
OMIM:277590	EZH2	2146	HP:0001814	Deep-set nails
OMIM:277590	EZH2	2146	HP:0008070	Sparse hair
OMIM:277590	EZH2	2146	HP:0011304	Broad thumb
OMIM:277590	EZH2	2146	HP:0030084	Clinodactyly
OMIM:277590	EZH2	2146	HP:0003186	Inverted nipples
OMIM:277590	EZH2	2146	HP:0000303	Mandibular prognathia
OMIM:277590	EZH2	2146	HP:0004689	Short fourth metatarsal
OMIM:277590	EZH2	2146	HP:0200000	Dysharmonic bone age
OMIM:277590	EZH2	2146	HP:0003066	Limited knee extension
OMIM:277590	EZH2	2146	HP:0000028	Cryptorchidism
OMIM:277590	EZH2	2146	HP:0002650	Scoliosis
OMIM:277590	EZH2	2146	HP:0000286	Epicanthus
OMIM:277590	EZH2	2146	HP:0009473	Joint contracture of the hand
OMIM:277590	EZH2	2146	HP:0000773	Short ribs
OMIM:277590	EZH2	2146	HP:0006956	Dilation of lateral ventricles
OMIM:277590	EZH2	2146	HP:0010751	Dimple chin
OMIM:277590	EZH2	2146	HP:0000023	Inguinal hernia
OMIM:277590	EZH2	2146	HP:0000343	Long philtrum
OMIM:277590	EZH2	2146	HP:0001848	Calcaneovalgus deformity
OMIM:607596	VRK1	7443	HP:0001263	Global developmental delay
OMIM:607596	VRK1	7443	HP:0001324	Muscle weakness
OMIM:607596	VRK1	7443	HP:0006999	Basal ganglia gliosis
OMIM:607596	VRK1	7443	HP:0007269	Spinal muscular atrophy
OMIM:607596	VRK1	7443	HP:0012110	Hypoplasia of the pons
OMIM:607596	VRK1	7443	HP:0003577	Congenital onset
OMIM:607596	VRK1	7443	HP:0003445	EMG: neuropathic changes
OMIM:607596	VRK1	7443	HP:0003676	Progressive
OMIM:607596	VRK1	7443	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	VRK1	7443	HP:0001290	Generalized hypotonia
OMIM:607596	VRK1	7443	HP:0002380	Fasciculations
OMIM:607596	VRK1	7443	HP:0008872	Feeding difficulties in infancy
OMIM:607596	VRK1	7443	HP:0001251	Ataxia
OMIM:607596	VRK1	7443	HP:0001760	Abnormality of the foot
OMIM:607596	VRK1	7443	HP:0002093	Respiratory insufficiency
OMIM:607596	VRK1	7443	HP:0001321	Cerebellar hypoplasia
OMIM:607596	VRK1	7443	HP:0000007	Autosomal recessive inheritance
OMIM:607596	VRK1	7443	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	VRK1	7443	HP:0001347	Hyperreflexia
OMIM:607596	VRK1	7443	HP:0002803	Congenital contracture
OMIM:607596	VRK1	7443	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	VRK1	7443	HP:0001249	Intellectual disability
OMIM:608615	AXIN2	8313	HP:0000006	Autosomal dominant inheritance
OMIM:608615	AXIN2	8313	HP:0000677	Oligodontia
OMIM:616081	EXOSC8	11340	HP:0000505	Visual impairment
OMIM:616081	EXOSC8	11340	HP:0000365	Hearing impairment
OMIM:616081	EXOSC8	11340	HP:0002120	Cerebral cortical atrophy
OMIM:616081	EXOSC8	11340	HP:0007269	Spinal muscular atrophy
OMIM:616081	EXOSC8	11340	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	EXOSC8	11340	HP:0011968	Feeding difficulties
OMIM:616081	EXOSC8	11340	HP:0002878	Respiratory failure
OMIM:616081	EXOSC8	11340	HP:0001324	Muscle weakness
OMIM:616081	EXOSC8	11340	HP:0000007	Autosomal recessive inheritance
OMIM:616081	EXOSC8	11340	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	EXOSC8	11340	HP:0001263	Global developmental delay
OMIM:616081	EXOSC8	11340	HP:0001285	Spastic tetraparesis
OMIM:616081	EXOSC8	11340	HP:0001508	Failure to thrive
OMIM:164300	PABPN1	8106	HP:0000006	Autosomal dominant inheritance
OMIM:164300	PABPN1	8106	HP:0002015	Dysphagia
OMIM:164300	PABPN1	8106	HP:0003581	Adult onset
OMIM:164300	PABPN1	8106	HP:0000467	Neck muscle weakness
OMIM:164300	PABPN1	8106	HP:0003676	Progressive
OMIM:164300	PABPN1	8106	HP:0001260	Dysarthria
OMIM:164300	PABPN1	8106	HP:0000298	Mask-like facies
OMIM:164300	PABPN1	8106	HP:0002460	Distal muscle weakness
OMIM:164300	PABPN1	8106	HP:0007838	Progressive ptosis
OMIM:164300	PABPN1	8106	HP:0003690	Limb muscle weakness
OMIM:164300	PABPN1	8106	HP:0001288	Gait disturbance
OMIM:164300	PABPN1	8106	HP:0010628	Facial palsy
OMIM:164300	PABPN1	8106	HP:0003701	Proximal muscle weakness
OMIM:170650	CTSC	1075	HP:0006480	Premature loss of teeth
OMIM:170650	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:170650	CTSC	1075	HP:0000951	Abnormality of the skin
OMIM:170650	CTSC	1075	HP:0001425	Heterogeneous
OMIM:170650	CTSC	1075	HP:0030816	Gingival recession
OMIM:170650	CTSC	1075	HP:0000166	Severe periodontitis
OMIM:616969	CD164	8763	HP:0000407	Sensorineural hearing impairment
OMIM:616969	CD164	8763	HP:0000006	Autosomal dominant inheritance
OMIM:616969	CD164	8763	HP:0003828	Variable expressivity
ORPHA:99977	RNF6	6049	HP:0001864	Clinodactyly of the 5th toe
ORPHA:99977	RNF6	6049	HP:0008872	Feeding difficulties in infancy
ORPHA:99977	RNF6	6049	HP:0002017	Nausea and vomiting
ORPHA:99977	RNF6	6049	HP:0012735	Cough
ORPHA:99977	RNF6	6049	HP:0100749	Chest pain
ORPHA:99977	RNF6	6049	HP:0011459	Esophageal carcinoma
ORPHA:99977	RNF6	6049	HP:0001608	Abnormality of the voice
ORPHA:99977	DLEC1	9940	HP:0001864	Clinodactyly of the 5th toe
ORPHA:99977	DLEC1	9940	HP:0008872	Feeding difficulties in infancy
ORPHA:99977	DLEC1	9940	HP:0002017	Nausea and vomiting
ORPHA:99977	DLEC1	9940	HP:0012735	Cough
ORPHA:99977	DLEC1	9940	HP:0100749	Chest pain
ORPHA:99977	DLEC1	9940	HP:0011459	Esophageal carcinoma
ORPHA:99977	DLEC1	9940	HP:0001608	Abnormality of the voice
ORPHA:99977	TGFBR2	7048	HP:0001864	Clinodactyly of the 5th toe
ORPHA:99977	TGFBR2	7048	HP:0008872	Feeding difficulties in infancy
ORPHA:99977	TGFBR2	7048	HP:0002017	Nausea and vomiting
ORPHA:99977	TGFBR2	7048	HP:0012735	Cough
ORPHA:99977	TGFBR2	7048	HP:0100749	Chest pain
ORPHA:99977	TGFBR2	7048	HP:0011459	Esophageal carcinoma
ORPHA:99977	TGFBR2	7048	HP:0001608	Abnormality of the voice
ORPHA:99977	WWOX	51741	HP:0001864	Clinodactyly of the 5th toe
ORPHA:99977	WWOX	51741	HP:0008872	Feeding difficulties in infancy
ORPHA:99977	WWOX	51741	HP:0002017	Nausea and vomiting
ORPHA:99977	WWOX	51741	HP:0012735	Cough
ORPHA:99977	WWOX	51741	HP:0100749	Chest pain
ORPHA:99977	WWOX	51741	HP:0011459	Esophageal carcinoma
ORPHA:99977	WWOX	51741	HP:0001608	Abnormality of the voice
ORPHA:263534	CSTA	1475	HP:0008499	High-grade hypermetropia
ORPHA:263534	CSTA	1475	HP:0010783	Erythema
ORPHA:263534	CSTA	1475	HP:0008064	Ichthyosis
ORPHA:263534	CSTA	1475	HP:0008066	Abnormal blistering of the skin
ORPHA:263534	CSTA	1475	HP:0040189	Scaling skin
ORPHA:263534	CSTA	1475	HP:0012393	Allergy
ORPHA:263534	CSTA	1475	HP:0000964	Eczema
ORPHA:263534	TGM5	9333	HP:0008499	High-grade hypermetropia
ORPHA:263534	TGM5	9333	HP:0010783	Erythema
ORPHA:263534	TGM5	9333	HP:0008064	Ichthyosis
ORPHA:263534	TGM5	9333	HP:0008066	Abnormal blistering of the skin
ORPHA:263534	TGM5	9333	HP:0040189	Scaling skin
ORPHA:263534	TGM5	9333	HP:0012393	Allergy
ORPHA:263534	TGM5	9333	HP:0000964	Eczema
OMIM:615441	TRDN	10345	HP:0000007	Autosomal recessive inheritance
OMIM:615441	TRDN	10345	HP:0003701	Proximal muscle weakness
OMIM:615441	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:108145	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:108145	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108145	PIEZO2	63895	HP:0007703	Abnormality of retinal pigmentation
OMIM:108145	PIEZO2	63895	HP:0001776	Bilateral talipes equinovarus
OMIM:108145	PIEZO2	63895	HP:0000218	High palate
OMIM:108145	PIEZO2	63895	HP:0001166	Arachnodactyly
OMIM:108145	PIEZO2	63895	HP:0003725	Firm muscles
OMIM:108145	PIEZO2	63895	HP:0004673	Decreased facial expression
OMIM:108145	PIEZO2	63895	HP:0000563	Keratoconus
OMIM:108145	PIEZO2	63895	HP:0001547	Abnormality of the rib cage
OMIM:108145	PIEZO2	63895	HP:0005684	Distal arthrogryposis
OMIM:108145	PIEZO2	63895	HP:0000325	Triangular face
OMIM:108145	PIEZO2	63895	HP:0000602	Ophthalmoplegia
OMIM:108145	PIEZO2	63895	HP:0000483	Astigmatism
OMIM:108145	PIEZO2	63895	HP:0005879	Congenital finger flexion contractures
OMIM:108145	PIEZO2	63895	HP:0000490	Deeply set eye
OMIM:108145	PIEZO2	63895	HP:0002091	Restrictive ventilatory defect
OMIM:108145	PIEZO2	63895	HP:0000486	Strabismus
OMIM:108145	PIEZO2	63895	HP:0003199	Decreased muscle mass
OMIM:108145	PIEZO2	63895	HP:0000767	Pectus excavatum
OMIM:108145	PIEZO2	63895	HP:0000006	Autosomal dominant inheritance
OMIM:108145	PIEZO2	63895	HP:0001119	Keratoglobus
OMIM:108145	PIEZO2	63895	HP:0000512	Abnormal electroretinogram
OMIM:108145	PIEZO2	63895	HP:0006251	Limited wrist extension
OMIM:108145	PIEZO2	63895	HP:0006184	Decreased palmar creases
OMIM:108145	PIEZO2	63895	HP:0000508	Ptosis
OMIM:108145	PIEZO2	63895	HP:0000581	Blepharophimosis
OMIM:108145	PIEZO2	63895	HP:0004322	Short stature
OMIM:108145	PIEZO2	63895	HP:0030084	Clinodactyly
OMIM:108145	PIEZO2	63895	HP:0000411	Protruding ear
OMIM:108145	PIEZO2	63895	HP:0006109	Absent phalangeal crease
OMIM:108145	PIEZO2	63895	HP:0009921	Duane anomaly
ORPHA:210128	UROC1	131669	HP:0012237	Urocanic aciduria
ORPHA:210128	UROC1	131669	HP:0002066	Gait ataxia
ORPHA:210128	UROC1	131669	HP:0002719	Recurrent infections
ORPHA:210128	UROC1	131669	HP:0010904	Abnormality of histidine metabolism
ORPHA:210128	UROC1	131669	HP:0001260	Dysarthria
ORPHA:210128	UROC1	131669	HP:0006801	Hyperactive deep tendon reflexes
ORPHA:210128	UROC1	131669	HP:0007979	Gaze-evoked horizontal nystagmus
ORPHA:210128	UROC1	131669	HP:0002078	Truncal ataxia
ORPHA:210128	UROC1	131669	HP:0002345	Action tremor
ORPHA:210128	UROC1	131669	HP:0002136	Broad-based gait
ORPHA:3320	RBM8A	9939	HP:0000337	Broad forehead
ORPHA:3320	RBM8A	9939	HP:0006507	Aplasia/hypoplasia of the humerus
ORPHA:3320	RBM8A	9939	HP:0002673	Coxa valga
ORPHA:3320	RBM8A	9939	HP:0002999	Patellar dislocation
ORPHA:3320	RBM8A	9939	HP:0003974	Absent radius
ORPHA:3320	RBM8A	9939	HP:0001873	Thrombocytopenia
ORPHA:3320	RBM8A	9939	HP:0002970	Genu varum
ORPHA:3320	RBM8A	9939	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3320	RBM8A	9939	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:3320	RBM8A	9939	HP:0100694	Tibial torsion
ORPHA:3320	RBM8A	9939	HP:0001928	Abnormality of coagulation
ORPHA:3320	RBM8A	9939	HP:0002827	Hip dislocation
ORPHA:3320	RBM8A	9939	HP:0006495	Aplasia/Hypoplasia of the ulna
ORPHA:3320	RBM8A	9939	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:3320	RBM8A	9939	HP:0000348	High forehead
OMIM:613341	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	LRAT	9227	HP:0000980	Pallor
OMIM:613341	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613341	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613341	LRAT	9227	HP:0002527	Falls
OMIM:613341	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613341	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613341	LRAT	9227	HP:0000613	Photophobia
OMIM:613341	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:613341	LRAT	9227	HP:0007875	Congenital blindness
OMIM:613341	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613341	LRAT	9227	HP:0000639	Nystagmus
OMIM:612076	SLC2A9	56606	HP:0000006	Autosomal dominant inheritance
OMIM:612076	SLC2A9	56606	HP:0003537	Hypouricemia
OMIM:612076	SLC2A9	56606	HP:0000007	Autosomal recessive inheritance
OMIM:239200	CASR	846	HP:0002148	Hypophosphatemia
OMIM:239200	CASR	846	HP:0002240	Hepatomegaly
OMIM:239200	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:239200	CASR	846	HP:0001959	Polydipsia
OMIM:239200	CASR	846	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:239200	CASR	846	HP:0002757	Recurrent fractures
OMIM:239200	CASR	846	HP:0002789	Tachypnea
OMIM:239200	CASR	846	HP:0000774	Narrow chest
OMIM:239200	CASR	846	HP:0008200	Primary hyperparathyroidism
OMIM:239200	CASR	846	HP:0000007	Autosomal recessive inheritance
OMIM:239200	CASR	846	HP:0003025	Metaphyseal irregularity
OMIM:239200	CASR	846	HP:0003109	Hyperphosphaturia
OMIM:239200	CASR	846	HP:0003761	Calcinosis
OMIM:239200	CASR	846	HP:0002094	Dyspnea
OMIM:239200	CASR	846	HP:0003355	Aminoaciduria
OMIM:239200	CASR	846	HP:0002150	Hypercalciuria
OMIM:239200	CASR	846	HP:0008872	Feeding difficulties in infancy
OMIM:239200	CASR	846	HP:0001290	Generalized hypotonia
OMIM:239200	CASR	846	HP:0003072	Hypercalcemia
OMIM:239200	CASR	846	HP:0000103	Polyuria
OMIM:239200	CASR	846	HP:0001508	Failure to thrive
OMIM:239200	CASR	846	HP:0001903	Anemia
OMIM:239200	CASR	846	HP:0001744	Splenomegaly
OMIM:239200	CASR	846	HP:0002019	Constipation
ORPHA:33001	FOXC2	2303	HP:0200020	Corneal erosion
ORPHA:33001	FOXC2	2303	HP:0000509	Conjunctivitis
ORPHA:33001	FOXC2	2303	HP:0001324	Muscle weakness
ORPHA:33001	FOXC2	2303	HP:0003550	Predominantly lower limb lymphedema
ORPHA:33001	FOXC2	2303	HP:0002619	Varicose veins
ORPHA:33001	FOXC2	2303	HP:0000508	Ptosis
ORPHA:33001	FOXC2	2303	HP:0009743	Distichiasis
ORPHA:33001	FOXC2	2303	HP:0000613	Photophobia
ORPHA:33001	FOXC2	2303	HP:0000518	Cataract
ORPHA:33001	FOXC2	2303	HP:0000656	Ectropion
OMIM:272750	GM2A	2760	HP:0003828	Variable expressivity
OMIM:272750	GM2A	2760	HP:0001263	Global developmental delay
OMIM:272750	GM2A	2760	HP:0002476	Primitive reflex
OMIM:272750	GM2A	2760	HP:0000618	Blindness
OMIM:272750	GM2A	2760	HP:0002180	Neurodegeneration
OMIM:272750	GM2A	2760	HP:0002371	Loss of speech
OMIM:272750	GM2A	2760	HP:0010780	Hyperacusis
OMIM:272750	GM2A	2760	HP:0003470	Paralysis
OMIM:272750	GM2A	2760	HP:0001347	Hyperreflexia
OMIM:272750	GM2A	2760	HP:0002072	Chorea
OMIM:272750	GM2A	2760	HP:0002059	Cerebral atrophy
OMIM:272750	GM2A	2760	HP:0000726	Dementia
OMIM:272750	GM2A	2760	HP:0000741	Apathy
OMIM:272750	GM2A	2760	HP:0001285	Spastic tetraparesis
OMIM:272750	GM2A	2760	HP:0007256	Abnormal pyramidal signs
OMIM:272750	GM2A	2760	HP:0002421	Poor head control
OMIM:272750	GM2A	2760	HP:0002835	Aspiration
OMIM:272750	GM2A	2760	HP:0008936	Muscular hypotonia of the trunk
OMIM:272750	GM2A	2760	HP:0003495	GM2-ganglioside accumulation
OMIM:272750	GM2A	2760	HP:0001250	Seizures
OMIM:272750	GM2A	2760	HP:0001290	Generalized hypotonia
OMIM:272750	GM2A	2760	HP:0002267	Exaggerated startle response
OMIM:272750	GM2A	2760	HP:0001332	Dystonia
OMIM:272750	GM2A	2760	HP:0000007	Autosomal recessive inheritance
ORPHA:263455	HNF4A	3172	HP:0000980	Pallor
ORPHA:263455	HNF4A	3172	HP:0012378	Fatigue
ORPHA:263455	HNF4A	3172	HP:0001319	Neonatal hypotonia
ORPHA:263455	HNF4A	3172	HP:0002240	Hepatomegaly
ORPHA:263455	HNF4A	3172	HP:0005979	Metabolic ketoacidosis
ORPHA:263455	HNF4A	3172	HP:0001520	Large for gestational age
ORPHA:263455	HNF4A	3172	HP:0001259	Coma
ORPHA:263455	HNF4A	3172	HP:0001998	Neonatal hypoglycemia
ORPHA:263455	HNF4A	3172	HP:0003076	Glycosuria
ORPHA:263455	HNF4A	3172	HP:0001254	Lethargy
ORPHA:263455	HNF4A	3172	HP:0004912	Hypophosphatemic rickets
ORPHA:263455	HNF4A	3172	HP:0002329	Drowsiness
ORPHA:263455	HNF4A	3172	HP:0002013	Vomiting
ORPHA:263455	HNF4A	3172	HP:0001649	Tachycardia
ORPHA:263455	HNF4A	3172	HP:0001985	Hypoketotic hypoglycemia
ORPHA:263455	HNF4A	3172	HP:0003155	Elevated alkaline phosphatase
ORPHA:263455	HNF4A	3172	HP:0004359	Abnormality of fatty-acid metabolism
ORPHA:263455	HNF4A	3172	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:263455	HNF4A	3172	HP:0001337	Tremor
ORPHA:263455	HNF4A	3172	HP:0002014	Diarrhea
ORPHA:263455	HNF4A	3172	HP:0001250	Seizures
ORPHA:263455	HNF4A	3172	HP:0002344	Progressive neurologic deterioration
ORPHA:263455	HNF4A	3172	HP:0000975	Hyperhidrosis
ORPHA:263455	HNF4A	3172	HP:0000093	Proteinuria
ORPHA:263455	HNF4A	3172	HP:0001994	Renal Fanconi syndrome
ORPHA:263455	HNF4A	3172	HP:0003162	Fasting hypoglycemia
ORPHA:263455	HNF4A	3172	HP:0004510	Pancreatic islet-cell hyperplasia
ORPHA:263455	HNF4A	3172	HP:0001249	Intellectual disability
ORPHA:263455	HNF4A	3172	HP:0006568	Increased hepatic glycogen content
ORPHA:263455	HNF4A	3172	HP:0000713	Agitation
ORPHA:263455	HNF4A	3172	HP:0002910	Elevated hepatic transaminases
OMIM:107480	SALL1	6299	HP:0002247	Duodenal atresia
OMIM:107480	SALL1	6299	HP:0100015	Stahl ear
OMIM:107480	SALL1	6299	HP:0002020	Gastroesophageal reflux
OMIM:107480	SALL1	6299	HP:0006179	Pseudoepiphyses of second metacarpal
OMIM:107480	SALL1	6299	HP:0011304	Broad thumb
OMIM:107480	SALL1	6299	HP:0000821	Hypothyroidism
OMIM:107480	SALL1	6299	HP:0010481	Urethral valve
OMIM:107480	SALL1	6299	HP:0000252	Microcephaly
OMIM:107480	SALL1	6299	HP:0001440	Metatarsal synostosis
OMIM:107480	SALL1	6299	HP:0002025	Anal stenosis
OMIM:107480	SALL1	6299	HP:0009944	Partial duplication of thumb phalanx
OMIM:107480	SALL1	6299	HP:0030676	Satyr ear
OMIM:107480	SALL1	6299	HP:0006097	3-4 finger syndactyly
OMIM:107480	SALL1	6299	HP:0010331	Aplasia/Hypoplasia of the 3rd toe
OMIM:107480	SALL1	6299	HP:0010743	Short metatarsal
OMIM:107480	SALL1	6299	HP:0001177	Preaxial hand polydactyly
OMIM:107480	SALL1	6299	HP:0001249	Intellectual disability
OMIM:107480	SALL1	6299	HP:0000567	Chorioretinal coloboma
OMIM:107480	SALL1	6299	HP:0000028	Cryptorchidism
OMIM:107480	SALL1	6299	HP:0004792	Rectoperineal fistula
OMIM:107480	SALL1	6299	HP:0000047	Hypospadias
OMIM:107480	SALL1	6299	HP:0000048	Bifid scrotum
OMIM:107480	SALL1	6299	HP:0001537	Umbilical hernia
OMIM:107480	SALL1	6299	HP:0004453	Overfolding of the superior helices
OMIM:107480	SALL1	6299	HP:0000400	Macrotia
OMIM:107480	SALL1	6299	HP:0001629	Ventricular septal defect
OMIM:107480	SALL1	6299	HP:0000006	Autosomal dominant inheritance
OMIM:107480	SALL1	6299	HP:0004691	2-3 toe syndactyly
OMIM:107480	SALL1	6299	HP:0009779	3-4 toe syndactyly
OMIM:107480	SALL1	6299	HP:0000143	Rectovaginal fistula
OMIM:107480	SALL1	6299	HP:0001636	Tetralogy of Fallot
OMIM:107480	SALL1	6299	HP:0000136	Bifid uterus
OMIM:607155	FKRP	79147	HP:0008981	Calf muscle hypertrophy
OMIM:607155	FKRP	79147	HP:0002948	Vertebral fusion
OMIM:607155	FKRP	79147	HP:0003547	Shoulder girdle muscle weakness
OMIM:607155	FKRP	79147	HP:0003828	Variable expressivity
OMIM:607155	FKRP	79147	HP:0002355	Difficulty walking
OMIM:607155	FKRP	79147	HP:0003307	Hyperlordosis
OMIM:607155	FKRP	79147	HP:0003733	Thigh hypertrophy
OMIM:607155	FKRP	79147	HP:0000158	Macroglossia
OMIM:607155	FKRP	79147	HP:0003394	Muscle cramps
OMIM:607155	FKRP	79147	HP:0002808	Kyphosis
OMIM:607155	FKRP	79147	HP:0003551	Difficulty climbing stairs
OMIM:607155	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607155	FKRP	79147	HP:0002515	Waddling gait
OMIM:607155	FKRP	79147	HP:0002877	Nocturnal hypoventilation
OMIM:607155	FKRP	79147	HP:0040083	Toe walking
OMIM:607155	FKRP	79147	HP:0001644	Dilated cardiomyopathy
OMIM:607155	FKRP	79147	HP:0003326	Myalgia
OMIM:607155	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:607155	FKRP	79147	HP:0001771	Achilles tendon contracture
OMIM:607155	FKRP	79147	HP:0002359	Frequent falls
OMIM:607155	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:607155	FKRP	79147	HP:0002650	Scoliosis
OMIM:607155	FKRP	79147	HP:0005162	Left ventricular failure
OMIM:607155	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:607155	FKRP	79147	HP:0003749	Pelvic girdle muscle weakness
OMIM:607155	FKRP	79147	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:300623	FMR1	2332	HP:0007010	Poor fine motor coordination
OMIM:300623	FMR1	2332	HP:0000298	Mask-like facies
OMIM:300623	FMR1	2332	HP:0000739	Anxiety
OMIM:300623	FMR1	2332	HP:0001423	X-linked dominant inheritance
OMIM:300623	FMR1	2332	HP:0002075	Dysdiadochokinesis
OMIM:300623	FMR1	2332	HP:0000734	Disinhibition
OMIM:300623	FMR1	2332	HP:0002506	Diffuse cerebral atrophy
OMIM:300623	FMR1	2332	HP:0000821	Hypothyroidism
OMIM:300623	FMR1	2332	HP:0000020	Urinary incontinence
OMIM:300623	FMR1	2332	HP:0000365	Hearing impairment
OMIM:300623	FMR1	2332	HP:0002067	Bradykinesia
OMIM:300623	FMR1	2332	HP:0000726	Dementia
OMIM:300623	FMR1	2332	HP:0008209	Premature ovarian insufficiency
OMIM:300623	FMR1	2332	HP:0003581	Adult onset
OMIM:300623	FMR1	2332	HP:0000802	Impotence
OMIM:300623	FMR1	2332	HP:0002174	Postural tremor
OMIM:300623	FMR1	2332	HP:0008770	Obsessive-compulsive trait
OMIM:300623	FMR1	2332	HP:0001260	Dysarthria
OMIM:300623	FMR1	2332	HP:0001300	Parkinsonism
OMIM:300623	FMR1	2332	HP:0002066	Gait ataxia
OMIM:300623	FMR1	2332	HP:0006886	Impaired distal vibration sensation
OMIM:300623	FMR1	2332	HP:0001310	Dysmetria
OMIM:300623	FMR1	2332	HP:0002607	Bowel incontinence
OMIM:300623	FMR1	2332	HP:0002354	Memory impairment
OMIM:300623	FMR1	2332	HP:0003326	Myalgia
OMIM:300623	FMR1	2332	HP:0001152	Saccadic smooth pursuit
OMIM:300623	FMR1	2332	HP:0001265	Hyporeflexia
OMIM:300623	FMR1	2332	HP:0002322	Resting tremor
OMIM:300623	FMR1	2332	HP:0000639	Nystagmus
OMIM:300623	FMR1	2332	HP:0002080	Intention tremor
OMIM:300623	FMR1	2332	HP:0000716	Depressivity
OMIM:300623	FMR1	2332	HP:0001272	Cerebellar atrophy
OMIM:276950	PTEN	5728	HP:0003468	Abnormal vertebral morphology
OMIM:276950	PTEN	5728	HP:0003826	Stillbirth
OMIM:276950	PTEN	5728	HP:0009777	Absent thumb
OMIM:276950	PTEN	5728	HP:0000238	Hydrocephalus
OMIM:276950	PTEN	5728	HP:0002023	Anal atresia
OMIM:276950	PTEN	5728	HP:0002410	Aqueductal stenosis
OMIM:276950	PTEN	5728	HP:0000089	Renal hypoplasia
OMIM:276950	PTEN	5728	HP:0002878	Respiratory failure
OMIM:276950	PTEN	5728	HP:0004059	Radial club hand
OMIM:276950	PTEN	5728	HP:0001627	Abnormal heart morphology
OMIM:615119	COX15	1355	HP:0001298	Encephalopathy
OMIM:615119	COX15	1355	HP:0000007	Autosomal recessive inheritance
OMIM:615119	COX15	1355	HP:0001290	Generalized hypotonia
OMIM:615119	COX15	1355	HP:0000252	Microcephaly
OMIM:615119	COX15	1355	HP:0001558	Decreased fetal movement
OMIM:615119	COX15	1355	HP:0002171	Gliosis
OMIM:615119	COX15	1355	HP:0001397	Hepatic steatosis
OMIM:223800	DYM	54808	HP:0002650	Scoliosis
OMIM:223800	DYM	54808	HP:0010743	Short metatarsal
OMIM:223800	DYM	54808	HP:0004568	Beaking of vertebral bodies
OMIM:223800	DYM	54808	HP:0001769	Broad foot
OMIM:223800	DYM	54808	HP:0002938	Lumbar hyperlordosis
OMIM:223800	DYM	54808	HP:0000470	Short neck
OMIM:223800	DYM	54808	HP:0002692	Hypoplastic facial bones
OMIM:223800	DYM	54808	HP:0006450	Multicentric ossification of proximal femoral epiphyses
OMIM:223800	DYM	54808	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:223800	DYM	54808	HP:0012385	Camptodactyly
OMIM:223800	DYM	54808	HP:0003180	Flat acetabular roof
OMIM:223800	DYM	54808	HP:0010049	Short metacarpal
OMIM:223800	DYM	54808	HP:0002866	Hypoplastic iliac wing
OMIM:223800	DYM	54808	HP:0002942	Thoracic kyphosis
OMIM:223800	DYM	54808	HP:0008786	Iliac crest serration
OMIM:223800	DYM	54808	HP:0000911	Flat glenoid fossa
OMIM:223800	DYM	54808	HP:0002681	Deformed sella turcica
OMIM:223800	DYM	54808	HP:0003183	Wide pubic symphysis
OMIM:223800	DYM	54808	HP:0000926	Platyspondyly
OMIM:223800	DYM	54808	HP:0008897	Postnatal growth retardation
OMIM:223800	DYM	54808	HP:0000914	Shield chest
OMIM:223800	DYM	54808	HP:0003375	Narrow greater sacrosciatic notches
OMIM:223800	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:223800	DYM	54808	HP:0000303	Mandibular prognathia
OMIM:223800	DYM	54808	HP:0000007	Autosomal recessive inheritance
OMIM:223800	DYM	54808	HP:0000884	Prominent sternum
OMIM:223800	DYM	54808	HP:0000252	Microcephaly
OMIM:223800	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:223800	DYM	54808	HP:0004997	Multicentric ossification of proximal humeral epiphyses
OMIM:223800	DYM	54808	HP:0011344	Severe global developmental delay
OMIM:223800	DYM	54808	HP:0000920	Enlargement of the costochondral junction
OMIM:223800	DYM	54808	HP:0001498	Carpal bone hypoplasia
OMIM:223800	DYM	54808	HP:0002515	Waddling gait
OMIM:223800	DYM	54808	HP:0002857	Genu valgum
OMIM:223800	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
OMIM:223800	DYM	54808	HP:0000882	Hypoplastic scapulae
OMIM:223800	DYM	54808	HP:0000280	Coarse facial features
OMIM:223800	DYM	54808	HP:0002684	Thickened calvaria
OMIM:223800	DYM	54808	HP:0008905	Rhizomelia
OMIM:223800	DYM	54808	HP:0001169	Broad palm
OMIM:613571	POR	5447	HP:0008258	Congenital adrenal hyperplasia
OMIM:613571	POR	5447	HP:0000007	Autosomal recessive inheritance
OMIM:613571	POR	5447	HP:0000062	Ambiguous genitalia
OMIM:613571	POR	5447	HP:0003154	Increased circulating ACTH level
OMIM:615355	RIT1	6016	HP:0000766	Abnormality of the sternum
OMIM:615355	RIT1	6016	HP:0001508	Failure to thrive
OMIM:615355	RIT1	6016	HP:0004482	Relative macrocephaly
OMIM:615355	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:615355	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	RIT1	6016	HP:0002212	Curly hair
OMIM:615355	RIT1	6016	HP:0001629	Ventricular septal defect
OMIM:615355	RIT1	6016	HP:0000316	Hypertelorism
OMIM:615355	RIT1	6016	HP:0000470	Short neck
OMIM:615355	RIT1	6016	HP:0001631	Atrial septal defect
OMIM:615355	RIT1	6016	HP:0000508	Ptosis
OMIM:615355	RIT1	6016	HP:0000962	Hyperkeratosis
OMIM:615355	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:615355	RIT1	6016	HP:0000286	Epicanthus
OMIM:615355	RIT1	6016	HP:0000369	Low-set ears
OMIM:615355	RIT1	6016	HP:0001561	Polyhydramnios
OMIM:615355	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:605361	PRKCG	5582	HP:0002073	Progressive cerebellar ataxia
OMIM:605361	PRKCG	5582	HP:0001260	Dysarthria
OMIM:605361	PRKCG	5582	HP:0002066	Gait ataxia
OMIM:605361	PRKCG	5582	HP:0003677	Slow progression
OMIM:605361	PRKCG	5582	HP:0007018	Attention deficit hyperactivity disorder
OMIM:605361	PRKCG	5582	HP:0001268	Mental deterioration
OMIM:605361	PRKCG	5582	HP:0006938	Impaired vibration sensation at ankles
OMIM:605361	PRKCG	5582	HP:0000006	Autosomal dominant inheritance
OMIM:605361	PRKCG	5582	HP:0000317	Facial myokymia
OMIM:605361	PRKCG	5582	HP:0000639	Nystagmus
OMIM:605361	PRKCG	5582	HP:0002354	Memory impairment
OMIM:605361	PRKCG	5582	HP:0003829	Incomplete penetrance
OMIM:605361	PRKCG	5582	HP:0001310	Dysmetria
OMIM:605361	PRKCG	5582	HP:0000716	Depressivity
OMIM:605361	PRKCG	5582	HP:0004373	Focal dystonia
OMIM:605361	PRKCG	5582	HP:0001272	Cerebellar atrophy
OMIM:605361	PRKCG	5582	HP:0001347	Hyperreflexia
OMIM:605361	PRKCG	5582	HP:0002015	Dysphagia
OMIM:604348	PER2	8864	HP:0006979	Sleep-wake cycle disturbance
OMIM:604348	PER2	8864	HP:0000716	Depressivity
OMIM:604348	PER2	8864	HP:0000006	Autosomal dominant inheritance
OMIM:615160	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:615160	UQCRC2	7385	HP:0003542	Increased serum pyruvate
OMIM:615160	UQCRC2	7385	HP:0001943	Hypoglycemia
OMIM:615160	UQCRC2	7385	HP:0001942	Metabolic acidosis
OMIM:615160	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCRC2	7385	HP:0001987	Hyperammonemia
ORPHA:1369	SLC25A4	291	HP:0000486	Strabismus
ORPHA:1369	SLC25A4	291	HP:0000639	Nystagmus
ORPHA:1369	SLC25A4	291	HP:0000518	Cataract
ORPHA:1369	SLC25A4	291	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:1369	SLC25A4	291	HP:0003198	Myopathy
ORPHA:1369	SLC25A4	291	HP:0000545	Myopia
ORPHA:1369	SLC25A4	291	HP:0003128	Lactic acidosis
ORPHA:1369	AGK	55750	HP:0000486	Strabismus
ORPHA:1369	AGK	55750	HP:0000639	Nystagmus
ORPHA:1369	AGK	55750	HP:0000518	Cataract
ORPHA:1369	AGK	55750	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:1369	AGK	55750	HP:0003198	Myopathy
ORPHA:1369	AGK	55750	HP:0000545	Myopia
ORPHA:1369	AGK	55750	HP:0003128	Lactic acidosis
OMIM:613823	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:613823	CEP152	22995	HP:0004209	Clinodactyly of the 5th finger
OMIM:613823	CEP152	22995	HP:0001249	Intellectual disability
OMIM:613823	CEP152	22995	HP:0000218	High palate
OMIM:613823	CEP152	22995	HP:0000347	Micrognathia
OMIM:613823	CEP152	22995	HP:0000444	Convex nasal ridge
OMIM:613823	CEP152	22995	HP:0000340	Sloping forehead
OMIM:613823	CEP152	22995	HP:0000252	Microcephaly
OMIM:613823	CEP152	22995	HP:0000278	Retrognathia
OMIM:613823	CEP152	22995	HP:0000426	Prominent nasal bridge
OMIM:613823	CEP152	22995	HP:0000668	Hypodontia
OMIM:613823	CEP152	22995	HP:0003683	Large beaked nose
OMIM:613823	CEP152	22995	HP:0002536	Abnormal cortical gyration
OMIM:613823	CEP152	22995	HP:0000677	Oligodontia
OMIM:613823	CEP152	22995	HP:0004322	Short stature
OMIM:211400	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:211400	SCNN1B	6338	HP:0002110	Bronchiectasis
OMIM:211400	SCNN1B	6338	HP:0004469	Chronic bronchitis
OMIM:616784	KIAA0556	23247	HP:0004322	Short stature
OMIM:616784	KIAA0556	23247	HP:0003577	Congenital onset
OMIM:616784	KIAA0556	23247	HP:0001263	Global developmental delay
OMIM:616784	KIAA0556	23247	HP:0000463	Anteverted nares
OMIM:616784	KIAA0556	23247	HP:0000007	Autosomal recessive inheritance
OMIM:616784	KIAA0556	23247	HP:0011787	Central hypothyroidism
OMIM:616784	KIAA0556	23247	HP:0002788	Recurrent upper respiratory tract infections
OMIM:616784	KIAA0556	23247	HP:0000054	Micropenis
OMIM:616784	KIAA0556	23247	HP:0001321	Cerebellar hypoplasia
OMIM:616784	KIAA0556	23247	HP:0000508	Ptosis
OMIM:616784	KIAA0556	23247	HP:0000871	Panhypopituitarism
OMIM:616784	KIAA0556	23247	HP:0000316	Hypertelorism
OMIM:616784	KIAA0556	23247	HP:0002007	Frontal bossing
OMIM:616784	KIAA0556	23247	HP:0000639	Nystagmus
OMIM:616784	KIAA0556	23247	HP:0000824	Growth hormone deficiency
OMIM:616784	KIAA0556	23247	HP:0007068	Inferior vermis hypoplasia
OMIM:209880	PHOX2B	8929	HP:0000494	Downslanted palpebral fissures
OMIM:209880	PHOX2B	8929	HP:0002251	Aganglionic megacolon
OMIM:209880	PHOX2B	8929	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	PHOX2B	8929	HP:0000358	Posteriorly rotated ears
OMIM:209880	PHOX2B	8929	HP:0007110	Central hypoventilation
OMIM:209880	PHOX2B	8929	HP:0000369	Low-set ears
OMIM:209880	PHOX2B	8929	HP:0003005	Ganglioneuroma
OMIM:209880	PHOX2B	8929	HP:0011968	Feeding difficulties
OMIM:209880	PHOX2B	8929	HP:0000975	Hyperhidrosis
OMIM:209880	PHOX2B	8929	HP:0004370	Abnormality of temperature regulation
OMIM:209880	PHOX2B	8929	HP:0000006	Autosomal dominant inheritance
OMIM:209880	PHOX2B	8929	HP:0006747	Ganglioneuroblastoma
OMIM:209880	PHOX2B	8929	HP:0000153	Abnormality of the mouth
OMIM:209880	PHOX2B	8929	HP:0002019	Constipation
OMIM:209880	BDNF	627	HP:0000494	Downslanted palpebral fissures
OMIM:209880	BDNF	627	HP:0002251	Aganglionic megacolon
OMIM:209880	BDNF	627	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	BDNF	627	HP:0000358	Posteriorly rotated ears
OMIM:209880	BDNF	627	HP:0007110	Central hypoventilation
OMIM:209880	BDNF	627	HP:0000369	Low-set ears
OMIM:209880	BDNF	627	HP:0003005	Ganglioneuroma
OMIM:209880	BDNF	627	HP:0011968	Feeding difficulties
OMIM:209880	BDNF	627	HP:0000975	Hyperhidrosis
OMIM:209880	BDNF	627	HP:0004370	Abnormality of temperature regulation
OMIM:209880	BDNF	627	HP:0000006	Autosomal dominant inheritance
OMIM:209880	BDNF	627	HP:0006747	Ganglioneuroblastoma
OMIM:209880	BDNF	627	HP:0000153	Abnormality of the mouth
OMIM:209880	BDNF	627	HP:0002019	Constipation
OMIM:209880	EDN3	1908	HP:0000494	Downslanted palpebral fissures
OMIM:209880	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:209880	EDN3	1908	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	EDN3	1908	HP:0000358	Posteriorly rotated ears
OMIM:209880	EDN3	1908	HP:0007110	Central hypoventilation
OMIM:209880	EDN3	1908	HP:0000369	Low-set ears
OMIM:209880	EDN3	1908	HP:0003005	Ganglioneuroma
OMIM:209880	EDN3	1908	HP:0011968	Feeding difficulties
OMIM:209880	EDN3	1908	HP:0000975	Hyperhidrosis
OMIM:209880	EDN3	1908	HP:0004370	Abnormality of temperature regulation
OMIM:209880	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:209880	EDN3	1908	HP:0006747	Ganglioneuroblastoma
OMIM:209880	EDN3	1908	HP:0000153	Abnormality of the mouth
OMIM:209880	EDN3	1908	HP:0002019	Constipation
OMIM:209880	RET	5979	HP:0000494	Downslanted palpebral fissures
OMIM:209880	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:209880	RET	5979	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	RET	5979	HP:0000358	Posteriorly rotated ears
OMIM:209880	RET	5979	HP:0007110	Central hypoventilation
OMIM:209880	RET	5979	HP:0000369	Low-set ears
OMIM:209880	RET	5979	HP:0003005	Ganglioneuroma
OMIM:209880	RET	5979	HP:0011968	Feeding difficulties
OMIM:209880	RET	5979	HP:0000975	Hyperhidrosis
OMIM:209880	RET	5979	HP:0004370	Abnormality of temperature regulation
OMIM:209880	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:209880	RET	5979	HP:0006747	Ganglioneuroblastoma
OMIM:209880	RET	5979	HP:0000153	Abnormality of the mouth
OMIM:209880	RET	5979	HP:0002019	Constipation
OMIM:209880	GDNF	2668	HP:0000494	Downslanted palpebral fissures
OMIM:209880	GDNF	2668	HP:0002251	Aganglionic megacolon
OMIM:209880	GDNF	2668	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	GDNF	2668	HP:0000358	Posteriorly rotated ears
OMIM:209880	GDNF	2668	HP:0007110	Central hypoventilation
OMIM:209880	GDNF	2668	HP:0000369	Low-set ears
OMIM:209880	GDNF	2668	HP:0003005	Ganglioneuroma
OMIM:209880	GDNF	2668	HP:0011968	Feeding difficulties
OMIM:209880	GDNF	2668	HP:0000975	Hyperhidrosis
OMIM:209880	GDNF	2668	HP:0004370	Abnormality of temperature regulation
OMIM:209880	GDNF	2668	HP:0000006	Autosomal dominant inheritance
OMIM:209880	GDNF	2668	HP:0006747	Ganglioneuroblastoma
OMIM:209880	GDNF	2668	HP:0000153	Abnormality of the mouth
OMIM:209880	GDNF	2668	HP:0002019	Constipation
OMIM:209880	ASCL1	429	HP:0000494	Downslanted palpebral fissures
OMIM:209880	ASCL1	429	HP:0002251	Aganglionic megacolon
OMIM:209880	ASCL1	429	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	ASCL1	429	HP:0000358	Posteriorly rotated ears
OMIM:209880	ASCL1	429	HP:0007110	Central hypoventilation
OMIM:209880	ASCL1	429	HP:0000369	Low-set ears
OMIM:209880	ASCL1	429	HP:0003005	Ganglioneuroma
OMIM:209880	ASCL1	429	HP:0011968	Feeding difficulties
OMIM:209880	ASCL1	429	HP:0000975	Hyperhidrosis
OMIM:209880	ASCL1	429	HP:0004370	Abnormality of temperature regulation
OMIM:209880	ASCL1	429	HP:0000006	Autosomal dominant inheritance
OMIM:209880	ASCL1	429	HP:0006747	Ganglioneuroblastoma
OMIM:209880	ASCL1	429	HP:0000153	Abnormality of the mouth
OMIM:209880	ASCL1	429	HP:0002019	Constipation
OMIM:616688	MORC2	22880	HP:0000006	Autosomal dominant inheritance
OMIM:616688	MORC2	22880	HP:0002380	Fasciculations
OMIM:616688	MORC2	22880	HP:0002936	Distal sensory impairment
OMIM:616688	MORC2	22880	HP:0009027	Foot dorsiflexor weakness
OMIM:616688	MORC2	22880	HP:0001761	Pes cavus
OMIM:616688	MORC2	22880	HP:0003394	Muscle cramps
OMIM:616688	MORC2	22880	HP:0003812	Phenotypic variability
OMIM:616688	MORC2	22880	HP:0002355	Difficulty walking
OMIM:616688	MORC2	22880	HP:0003677	Slow progression
OMIM:616688	MORC2	22880	HP:0000365	Hearing impairment
OMIM:616688	MORC2	22880	HP:0001620	High pitched voice
OMIM:616688	MORC2	22880	HP:0002411	Myokymia
OMIM:616688	MORC2	22880	HP:0001290	Generalized hypotonia
OMIM:137215	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:137215	KRAS	3845	HP:0002582	Chronic atrophic gastritis
OMIM:137215	KRAS	3845	HP:0012126	Stomach cancer
OMIM:137215	CDH1	999	HP:0000006	Autosomal dominant inheritance
OMIM:137215	CDH1	999	HP:0002582	Chronic atrophic gastritis
OMIM:137215	CDH1	999	HP:0012126	Stomach cancer
OMIM:210000	OPA1	4976	HP:0001288	Gait disturbance
OMIM:210000	OPA1	4976	HP:0000639	Nystagmus
OMIM:210000	OPA1	4976	HP:0000007	Autosomal recessive inheritance
OMIM:210000	OPA1	4976	HP:0000648	Optic atrophy
OMIM:210000	OPA1	4976	HP:0001251	Ataxia
OMIM:210000	OPA1	4976	HP:0003676	Progressive
OMIM:210000	OPA1	4976	HP:0000529	Progressive visual loss
OMIM:210000	OPA1	4976	HP:0001249	Intellectual disability
OMIM:210000	OPA1	4976	HP:0001310	Dysmetria
OMIM:210000	OPA1	4976	HP:0006366	Adductor longus contractures
OMIM:210000	OPA1	4976	HP:0003089	Hamstring contractures
OMIM:210000	OPA1	4976	HP:0001270	Motor delay
OMIM:210000	OPA1	4976	HP:0001272	Cerebellar atrophy
OMIM:210000	OPA1	4976	HP:0001347	Hyperreflexia
OMIM:210000	OPA1	4976	HP:0001771	Achilles tendon contracture
OMIM:210000	OPA1	4976	HP:0002191	Progressive spasticity
OMIM:210000	OPA1	4976	HP:0003487	Babinski sign
OMIM:210000	OPA1	4976	HP:0001337	Tremor
OMIM:606889	PSEN2	5664	HP:0003596	Middle age onset
OMIM:606889	PSEN2	5664	HP:0002511	Alzheimer disease
OMIM:606889	PSEN2	5664	HP:0011970	Cerebral amyloid angiopathy
OMIM:606889	PSEN2	5664	HP:0006979	Sleep-wake cycle disturbance
OMIM:606889	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:606889	PSEN2	5664	HP:0000726	Dementia
OMIM:606889	APOE	348	HP:0003596	Middle age onset
OMIM:606889	APOE	348	HP:0002511	Alzheimer disease
OMIM:606889	APOE	348	HP:0011970	Cerebral amyloid angiopathy
OMIM:606889	APOE	348	HP:0006979	Sleep-wake cycle disturbance
OMIM:606889	APOE	348	HP:0000006	Autosomal dominant inheritance
OMIM:606889	APOE	348	HP:0000726	Dementia
ORPHA:97279	MEN1	4221	HP:0001250	Seizures
ORPHA:97279	MEN1	4221	HP:0001962	Palpitations
ORPHA:97279	MEN1	4221	HP:0010534	Transient global amnesia
ORPHA:97279	MEN1	4221	HP:0007159	Fluctuations in consciousness
ORPHA:97279	MEN1	4221	HP:0012051	Reactive hypoglycemia
ORPHA:97279	MEN1	4221	HP:0001337	Tremor
ORPHA:97279	MEN1	4221	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:97279	MEN1	4221	HP:0003324	Generalized muscle weakness
ORPHA:97279	MEN1	4221	HP:0008283	Fasting hyperinsulinemia
ORPHA:97279	MEN1	4221	HP:0006476	Abnormality of the pancreatic islet cells
ORPHA:97279	MEN1	4221	HP:0002044	Zollinger-Ellison syndrome
ORPHA:97279	MEN1	4221	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:97279	MEN1	4221	HP:0001958	Nonketotic hypoglycemia
ORPHA:97279	MEN1	4221	HP:0004324	Increased body weight
ORPHA:97279	MEN1	4221	HP:0001988	Recurrent hypoglycemia
ORPHA:97279	MEN1	4221	HP:0000975	Hyperhidrosis
ORPHA:97279	MEN1	4221	HP:0008200	Primary hyperparathyroidism
ORPHA:97279	MEN1	4221	HP:0002591	Polyphagia
ORPHA:1942	SLC6A1	6529	HP:0010819	Atonic seizures
ORPHA:1942	SLC6A1	6529	HP:0001260	Dysarthria
ORPHA:1942	SLC6A1	6529	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:1942	SLC6A1	6529	HP:0002376	Developmental regression
ORPHA:1942	SLC6A1	6529	HP:0001268	Mental deterioration
ORPHA:1942	SLC6A1	6529	HP:0011203	EEG with abnormally slow frequencies
ORPHA:1942	SLC6A1	6529	HP:0011170	Myoclonic atonic seizures
ORPHA:1942	SLC6A1	6529	HP:0001251	Ataxia
ORPHA:1942	SLC6A1	6529	HP:0002133	Status epilepticus
ORPHA:1942	SLC6A1	6529	HP:0200134	Epileptic encephalopathy
ORPHA:1942	SLC6A1	6529	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
ORPHA:1942	CHD2	1106	HP:0010819	Atonic seizures
ORPHA:1942	CHD2	1106	HP:0001260	Dysarthria
ORPHA:1942	CHD2	1106	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:1942	CHD2	1106	HP:0002376	Developmental regression
ORPHA:1942	CHD2	1106	HP:0001268	Mental deterioration
ORPHA:1942	CHD2	1106	HP:0011203	EEG with abnormally slow frequencies
ORPHA:1942	CHD2	1106	HP:0011170	Myoclonic atonic seizures
ORPHA:1942	CHD2	1106	HP:0001251	Ataxia
ORPHA:1942	CHD2	1106	HP:0002133	Status epilepticus
ORPHA:1942	CHD2	1106	HP:0200134	Epileptic encephalopathy
ORPHA:1942	CHD2	1106	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
ORPHA:246	DHODH	1723	HP:0000625	Cleft eyelid
ORPHA:246	DHODH	1723	HP:0000272	Malar flattening
ORPHA:246	DHODH	1723	HP:0000494	Downslanted palpebral fissures
ORPHA:246	DHODH	1723	HP:0000175	Cleft palate
ORPHA:246	DHODH	1723	HP:0007651	Ectropion of lower eyelids
ORPHA:246	DHODH	1723	HP:0006101	Finger syndactyly
ORPHA:246	DHODH	1723	HP:0007477	Abnormal dermatoglyphics
ORPHA:246	DHODH	1723	HP:0002558	Supernumerary nipple
ORPHA:246	DHODH	1723	HP:0100490	Camptodactyly of finger
ORPHA:246	DHODH	1723	HP:0000347	Micrognathia
ORPHA:246	DHODH	1723	HP:0000378	Cupped ear
ORPHA:246	DHODH	1723	HP:0100335	Non-midline cleft lip
ORPHA:246	DHODH	1723	HP:0002984	Hypoplasia of the radius
ORPHA:246	DHODH	1723	HP:0008551	Microtia
ORPHA:246	DHODH	1723	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:246	DHODH	1723	HP:0000405	Conductive hearing impairment
ORPHA:246	DHODH	1723	HP:0003022	Hypoplasia of the ulna
ORPHA:246	DHODH	1723	HP:0000368	Low-set, posteriorly rotated ears
OMIM:609813	LFNG	3955	HP:0000007	Autosomal recessive inheritance
OMIM:609813	LFNG	3955	HP:0002650	Scoliosis
OMIM:609813	LFNG	3955	HP:0003422	Vertebral segmentation defect
OMIM:609813	LFNG	3955	HP:0001238	Slender finger
OMIM:609813	LFNG	3955	HP:0004598	Supernumerary vertebral ossification centers
ORPHA:523	FH	2271	HP:0003011	Abnormality of the musculature
ORPHA:523	FH	2271	HP:0007437	Multiple cutaneous leiomyomas
ORPHA:523	FH	2271	HP:0000989	Pruritus
ORPHA:523	FH	2271	HP:0007620	Cutaneous leiomyoma
ORPHA:314918	ASPA	443	HP:0002360	Sleep disturbance
ORPHA:314918	ASPA	443	HP:0000750	Delayed speech and language development
ORPHA:314918	ASPA	443	HP:0011342	Mild global developmental delay
OMIM:615607	CD3G	917	HP:0005415	Decreased number of CD8+ T cells
OMIM:615607	CD3G	917	HP:0003828	Variable expressivity
OMIM:615607	CD3G	917	HP:0002205	Recurrent respiratory infections
OMIM:615607	CD3G	917	HP:0000964	Eczema
OMIM:615607	CD3G	917	HP:0000403	Recurrent otitis media
OMIM:615607	CD3G	917	HP:0000007	Autosomal recessive inheritance
OMIM:615607	CD3G	917	HP:0002721	Immunodeficiency
OMIM:305600	PORCN	64840	HP:0000567	Chorioretinal coloboma
OMIM:305600	PORCN	64840	HP:0002308	Arnold-Chiari malformation
OMIM:305600	PORCN	64840	HP:0000060	Clitoral hypoplasia
OMIM:305600	PORCN	64840	HP:0000455	Broad nasal tip
OMIM:305600	PORCN	64840	HP:0001162	Postaxial hand polydactyly
OMIM:305600	PORCN	64840	HP:0004322	Short stature
OMIM:305600	PORCN	64840	HP:0000066	Labial hypoplasia
OMIM:305600	PORCN	64840	HP:0000505	Visual impairment
OMIM:305600	PORCN	64840	HP:0003298	Spina bifida occulta
OMIM:305600	PORCN	64840	HP:0004334	Dermal atrophy
OMIM:305600	PORCN	64840	HP:0000612	Iris coloboma
OMIM:305600	PORCN	64840	HP:0000252	Microcephaly
OMIM:305600	PORCN	64840	HP:0001009	Telangiectasia
OMIM:305600	PORCN	64840	HP:0002164	Nail dysplasia
OMIM:305600	PORCN	64840	HP:0000073	Ureteral duplication
OMIM:305600	PORCN	64840	HP:0000369	Low-set ears
OMIM:305600	PORCN	64840	HP:0000486	Strabismus
OMIM:305600	PORCN	64840	HP:0001156	Brachydactyly
OMIM:305600	PORCN	64840	HP:0002566	Intestinal malrotation
OMIM:305600	PORCN	64840	HP:0006638	Midclavicular aplasia
OMIM:305600	PORCN	64840	HP:0000307	Pointed chin
OMIM:305600	PORCN	64840	HP:0000324	Facial asymmetry
OMIM:305600	PORCN	64840	HP:0001545	Anteriorly placed anus
OMIM:305600	PORCN	64840	HP:0000528	Anophthalmia
OMIM:305600	PORCN	64840	HP:0006608	Midclavicular hypoplasia
OMIM:305600	PORCN	64840	HP:0001849	Foot oligodactyly
OMIM:305600	PORCN	64840	HP:0000668	Hypodontia
OMIM:305600	PORCN	64840	HP:0001180	Hand oligodactyly
OMIM:305600	PORCN	64840	HP:0001600	Abnormality of the larynx
OMIM:305600	PORCN	64840	HP:0001829	Foot polydactyly
OMIM:305600	PORCN	64840	HP:0000773	Short ribs
OMIM:305600	PORCN	64840	HP:0002558	Supernumerary nipple
OMIM:305600	PORCN	64840	HP:0000402	Stenosis of the external auditory canal
OMIM:305600	PORCN	64840	HP:0000126	Hydronephrosis
OMIM:305600	PORCN	64840	HP:0001249	Intellectual disability
OMIM:305600	PORCN	64840	HP:0002650	Scoliosis
OMIM:305600	PORCN	64840	HP:0002036	Hiatus hernia
OMIM:305600	PORCN	64840	HP:0000689	Dental malocclusion
OMIM:305600	PORCN	64840	HP:0001388	Joint laxity
OMIM:305600	PORCN	64840	HP:0001839	Split foot
OMIM:305600	PORCN	64840	HP:0006297	Hypoplasia of dental enamel
OMIM:305600	PORCN	64840	HP:0009381	Short finger
OMIM:305600	PORCN	64840	HP:0010743	Short metatarsal
OMIM:305600	PORCN	64840	HP:0030037	Bifid ureter
OMIM:305600	PORCN	64840	HP:0000410	Mixed hearing impairment
OMIM:305600	PORCN	64840	HP:0001770	Toe syndactyly
OMIM:305600	PORCN	64840	HP:0001539	Omphalocele
OMIM:305600	PORCN	64840	HP:0010049	Short metacarpal
OMIM:305600	PORCN	64840	HP:0001274	Agenesis of corpus callosum
OMIM:305600	PORCN	64840	HP:0008404	Nail dystrophy
OMIM:305600	PORCN	64840	HP:0000568	Microphthalmia
OMIM:305600	PORCN	64840	HP:0000684	Delayed eruption of teeth
OMIM:305600	PORCN	64840	HP:0002232	Patchy alopecia
OMIM:305600	PORCN	64840	HP:0000526	Aniridia
OMIM:305600	PORCN	64840	HP:0001423	X-linked dominant inheritance
OMIM:305600	PORCN	64840	HP:0001802	Absent toenail
OMIM:305600	PORCN	64840	HP:0002299	Brittle hair
OMIM:305600	PORCN	64840	HP:0000028	Cryptorchidism
OMIM:305600	PORCN	64840	HP:0008070	Sparse hair
OMIM:305600	PORCN	64840	HP:0000377	Abnormality of the pinna
OMIM:305600	PORCN	64840	HP:0000677	Oligodontia
OMIM:305600	PORCN	64840	HP:0000639	Nystagmus
OMIM:305600	PORCN	64840	HP:0001171	Split hand
OMIM:305600	PORCN	64840	HP:0003191	Cleft ala nasi
OMIM:305600	PORCN	64840	HP:0007546	Linear hyperpigmentation
OMIM:305600	PORCN	64840	HP:0010740	Osteopathia striata
OMIM:305600	PORCN	64840	HP:0001083	Ectopia lentis
OMIM:305600	PORCN	64840	HP:0000204	Cleft upper lip
OMIM:305600	PORCN	64840	HP:0007588	Reticular hyperpigmentation
OMIM:305600	PORCN	64840	HP:0000175	Cleft palate
OMIM:305600	PORCN	64840	HP:0000446	Narrow nasal bridge
OMIM:305600	PORCN	64840	HP:0002475	Myelomeningocele
OMIM:305600	PORCN	64840	HP:0001540	Diastasis recti
OMIM:305600	PORCN	64840	HP:0001817	Absent fingernail
OMIM:305600	PORCN	64840	HP:0001537	Umbilical hernia
OMIM:305600	PORCN	64840	HP:0000085	Horseshoe kidney
OMIM:305600	PORCN	64840	HP:0000648	Optic atrophy
OMIM:305600	PORCN	64840	HP:0009803	Short phalanx of finger
OMIM:305600	PORCN	64840	HP:0000238	Hydrocephalus
OMIM:305600	PORCN	64840	HP:0002557	Hypoplastic nipples
OMIM:305600	PORCN	64840	HP:0007663	Reduced visual acuity
OMIM:305600	PORCN	64840	HP:0001374	Congenital hip dislocation
OMIM:305600	PORCN	64840	HP:0000023	Inguinal hernia
OMIM:305600	PORCN	64840	HP:0000776	Congenital diaphragmatic hernia
OMIM:300049	FLNA	2316	HP:0002269	Abnormality of neuronal migration
OMIM:300049	FLNA	2316	HP:0001647	Bicuspid aortic valve
OMIM:300049	FLNA	2316	HP:0001297	Stroke
OMIM:300049	FLNA	2316	HP:0001256	Intellectual disability, mild
OMIM:300049	FLNA	2316	HP:0001643	Patent ductus arteriosus
OMIM:300049	FLNA	2316	HP:0003256	Abnormality of the coagulation cascade
OMIM:300049	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:300049	FLNA	2316	HP:0001250	Seizures
OMIM:300049	FLNA	2316	HP:0002282	Heterotopia
ORPHA:2746	INPPL1	3636	HP:0003175	Hypoplastic ischia
ORPHA:2746	INPPL1	3636	HP:0003177	Squared iliac bones
ORPHA:2746	INPPL1	3636	HP:0001156	Brachydactyly
ORPHA:2746	INPPL1	3636	HP:0008479	Hypoplastic vertebral bodies
ORPHA:2746	INPPL1	3636	HP:0002205	Recurrent respiratory infections
ORPHA:2746	INPPL1	3636	HP:0000944	Abnormality of the metaphysis
ORPHA:2746	INPPL1	3636	HP:0003173	Hypoplastic pubic bone
ORPHA:2746	INPPL1	3636	HP:0001182	Tapered finger
ORPHA:2746	INPPL1	3636	HP:0002093	Respiratory insufficiency
ORPHA:2746	INPPL1	3636	HP:0002750	Delayed skeletal maturation
ORPHA:2746	INPPL1	3636	HP:0000256	Macrocephaly
ORPHA:2746	INPPL1	3636	HP:0000239	Large fontanelles
ORPHA:2746	INPPL1	3636	HP:0005469	Flat occiput
ORPHA:2746	INPPL1	3636	HP:0001252	Muscular hypotonia
ORPHA:2746	INPPL1	3636	HP:0002007	Frontal bossing
ORPHA:2746	INPPL1	3636	HP:0003196	Short nose
ORPHA:2746	INPPL1	3636	HP:0100569	Abnormal vertebral ossification
ORPHA:2746	INPPL1	3636	HP:0005280	Depressed nasal bridge
ORPHA:2746	INPPL1	3636	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2746	INPPL1	3636	HP:0003510	Severe short stature
ORPHA:79328	ALG9	79796	HP:0001252	Muscular hypotonia
ORPHA:79328	ALG9	79796	HP:0001250	Seizures
ORPHA:79328	ALG9	79796	HP:0001399	Hepatic failure
ORPHA:79328	ALG9	79796	HP:0100543	Cognitive impairment
OMIM:616901	DPH1	1801	HP:0001363	Craniosynostosis
OMIM:616901	DPH1	1801	HP:0000007	Autosomal recessive inheritance
OMIM:616901	DPH1	1801	HP:0000286	Epicanthus
OMIM:616901	DPH1	1801	HP:0000347	Micrognathia
OMIM:616901	DPH1	1801	HP:0000369	Low-set ears
OMIM:616901	DPH1	1801	HP:0000316	Hypertelorism
OMIM:616901	DPH1	1801	HP:0000494	Downslanted palpebral fissures
OMIM:616901	DPH1	1801	HP:0001800	Hypoplastic toenails
OMIM:616901	DPH1	1801	HP:0005280	Depressed nasal bridge
OMIM:616901	DPH1	1801	HP:0001249	Intellectual disability
OMIM:616901	DPH1	1801	HP:0045075	Sparse eyebrow
OMIM:616901	DPH1	1801	HP:0004322	Short stature
OMIM:616901	DPH1	1801	HP:0011220	Prominent forehead
OMIM:616901	DPH1	1801	HP:0000243	Trigonocephaly
OMIM:616901	DPH1	1801	HP:0000164	Abnormality of the dentition
OMIM:616901	DPH1	1801	HP:0001629	Ventricular septal defect
OMIM:616901	DPH1	1801	HP:0001263	Global developmental delay
OMIM:616901	DPH1	1801	HP:0003577	Congenital onset
OMIM:616901	DPH1	1801	HP:0000653	Sparse eyelashes
OMIM:616901	DPH1	1801	HP:0030799	Scaphocephaly
OMIM:218340	C12ORF57	113246	HP:0000343	Long philtrum
OMIM:218340	C12ORF57	113246	HP:0000394	Lop ear
OMIM:218340	C12ORF57	113246	HP:0002553	Highly arched eyebrow
OMIM:218340	C12ORF57	113246	HP:0000494	Downslanted palpebral fissures
OMIM:218340	C12ORF57	113246	HP:0000612	Iris coloboma
OMIM:218340	C12ORF57	113246	HP:0000369	Low-set ears
OMIM:218340	C12ORF57	113246	HP:0001083	Ectopia lentis
OMIM:218340	C12ORF57	113246	HP:0001724	Aortic dilatation
OMIM:218340	C12ORF57	113246	HP:0001156	Brachydactyly
OMIM:218340	C12ORF57	113246	HP:0001274	Agenesis of corpus callosum
OMIM:218340	C12ORF57	113246	HP:0002119	Ventriculomegaly
OMIM:218340	C12ORF57	113246	HP:0001290	Generalized hypotonia
OMIM:218340	C12ORF57	113246	HP:0000444	Convex nasal ridge
OMIM:218340	C12ORF57	113246	HP:0000567	Chorioretinal coloboma
OMIM:218340	C12ORF57	113246	HP:0000678	Dental crowding
OMIM:218340	C12ORF57	113246	HP:0000685	Hypoplasia of teeth
OMIM:218340	C12ORF57	113246	HP:0003593	Infantile onset
OMIM:218340	C12ORF57	113246	HP:0001762	Talipes equinovarus
OMIM:218340	C12ORF57	113246	HP:0002827	Hip dislocation
OMIM:218340	C12ORF57	113246	HP:0001256	Intellectual disability, mild
OMIM:218340	C12ORF57	113246	HP:0001263	Global developmental delay
OMIM:218340	C12ORF57	113246	HP:0000347	Micrognathia
OMIM:218340	C12ORF57	113246	HP:0000276	Long face
OMIM:218340	C12ORF57	113246	HP:0000316	Hypertelorism
OMIM:218340	C12ORF57	113246	HP:0000545	Myopia
OMIM:218340	C12ORF57	113246	HP:0001763	Pes planus
OMIM:218340	C12ORF57	113246	HP:0000007	Autosomal recessive inheritance
OMIM:218340	C12ORF57	113246	HP:0001659	Aortic regurgitation
OMIM:218340	C12ORF57	113246	HP:0001885	Short 2nd toe
OMIM:218340	C12ORF57	113246	HP:0002007	Frontal bossing
OMIM:617100	MSH3	4437	HP:0012126	Stomach cancer
OMIM:617100	MSH3	4437	HP:0000854	Thyroid adenoma
OMIM:617100	MSH3	4437	HP:0009592	Astrocytoma
OMIM:617100	MSH3	4437	HP:0000007	Autosomal recessive inheritance
ORPHA:3162	CTLA4	1493	HP:0001019	Erythroderma
ORPHA:3162	CTLA4	1493	HP:0002721	Immunodeficiency
ORPHA:3162	CTLA4	1493	HP:0000958	Dry skin
ORPHA:3162	CTLA4	1493	HP:0000989	Pruritus
ORPHA:3162	CTLA4	1493	HP:0001596	Alopecia
ORPHA:3162	CTLA4	1493	HP:0002240	Hepatomegaly
ORPHA:3162	CTLA4	1493	HP:0008069	Neoplasm of the skin
ORPHA:3162	CTLA4	1493	HP:0008404	Nail dystrophy
ORPHA:3162	CTLA4	1493	HP:0100725	Lichenification
ORPHA:3162	CTLA4	1493	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:3162	CTLA4	1493	HP:0000982	Palmoplantar keratoderma
ORPHA:3162	CTLA4	1493	HP:0001744	Splenomegaly
ORPHA:3162	CTLA4	1493	HP:0002716	Lymphadenopathy
ORPHA:3162	CD28	940	HP:0001019	Erythroderma
ORPHA:3162	CD28	940	HP:0002721	Immunodeficiency
ORPHA:3162	CD28	940	HP:0000958	Dry skin
ORPHA:3162	CD28	940	HP:0000989	Pruritus
ORPHA:3162	CD28	940	HP:0001596	Alopecia
ORPHA:3162	CD28	940	HP:0002240	Hepatomegaly
ORPHA:3162	CD28	940	HP:0008069	Neoplasm of the skin
ORPHA:3162	CD28	940	HP:0008404	Nail dystrophy
ORPHA:3162	CD28	940	HP:0100725	Lichenification
ORPHA:3162	CD28	940	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:3162	CD28	940	HP:0000982	Palmoplantar keratoderma
ORPHA:3162	CD28	940	HP:0001744	Splenomegaly
ORPHA:3162	CD28	940	HP:0002716	Lymphadenopathy
ORPHA:3162	TNFRSF1B	7133	HP:0001019	Erythroderma
ORPHA:3162	TNFRSF1B	7133	HP:0002721	Immunodeficiency
ORPHA:3162	TNFRSF1B	7133	HP:0000958	Dry skin
ORPHA:3162	TNFRSF1B	7133	HP:0000989	Pruritus
ORPHA:3162	TNFRSF1B	7133	HP:0001596	Alopecia
ORPHA:3162	TNFRSF1B	7133	HP:0002240	Hepatomegaly
ORPHA:3162	TNFRSF1B	7133	HP:0008069	Neoplasm of the skin
ORPHA:3162	TNFRSF1B	7133	HP:0008404	Nail dystrophy
ORPHA:3162	TNFRSF1B	7133	HP:0100725	Lichenification
ORPHA:3162	TNFRSF1B	7133	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:3162	TNFRSF1B	7133	HP:0000982	Palmoplantar keratoderma
ORPHA:3162	TNFRSF1B	7133	HP:0001744	Splenomegaly
ORPHA:3162	TNFRSF1B	7133	HP:0002716	Lymphadenopathy
ORPHA:140966	SERPINB7	8710	HP:0000982	Palmoplantar keratoderma
ORPHA:140966	SERPINB7	8710	HP:0000975	Hyperhidrosis
OMIM:617270	ELP2	55250	HP:0000007	Autosomal recessive inheritance
OMIM:617270	ELP2	55250	HP:0003577	Congenital onset
OMIM:617270	ELP2	55250	HP:0000718	Aggressive behavior
OMIM:617270	ELP2	55250	HP:0001266	Choreoathetosis
OMIM:617270	ELP2	55250	HP:0003676	Progressive
OMIM:148050	ANKRD11	29123	HP:0000637	Long palpebral fissure
OMIM:148050	ANKRD11	29123	HP:0000677	Oligodontia
OMIM:148050	ANKRD11	29123	HP:0000316	Hypertelorism
OMIM:148050	ANKRD11	29123	HP:0001159	Syndactyly
OMIM:148050	ANKRD11	29123	HP:0001263	Global developmental delay
OMIM:148050	ANKRD11	29123	HP:0001249	Intellectual disability
OMIM:148050	ANKRD11	29123	HP:0002948	Vertebral fusion
OMIM:148050	ANKRD11	29123	HP:0002942	Thoracic kyphosis
OMIM:148050	ANKRD11	29123	HP:0000294	Low anterior hairline
OMIM:148050	ANKRD11	29123	HP:0000006	Autosomal dominant inheritance
OMIM:148050	ANKRD11	29123	HP:0000902	Rib fusion
OMIM:148050	ANKRD11	29123	HP:0004322	Short stature
OMIM:148050	ANKRD11	29123	HP:0002162	Low posterior hairline
OMIM:148050	ANKRD11	29123	HP:0000400	Macrotia
OMIM:148050	ANKRD11	29123	HP:0000325	Triangular face
OMIM:148050	ANKRD11	29123	HP:0001572	Macrodontia
OMIM:148050	ANKRD11	29123	HP:0000311	Round face
OMIM:148050	ANKRD11	29123	HP:0000343	Long philtrum
OMIM:148050	ANKRD11	29123	HP:0002750	Delayed skeletal maturation
OMIM:148050	ANKRD11	29123	HP:0000252	Microcephaly
OMIM:148050	ANKRD11	29123	HP:0009466	Radial deviation of finger
OMIM:148050	ANKRD11	29123	HP:0008438	Vertebral arch anomaly
OMIM:148050	ANKRD11	29123	HP:0000954	Single transverse palmar crease
OMIM:148050	ANKRD11	29123	HP:0000574	Thick eyebrow
OMIM:148050	ANKRD11	29123	HP:0030084	Clinodactyly
OMIM:148050	ANKRD11	29123	HP:0001566	Widely-spaced maxillary central incisors
OMIM:148050	ANKRD11	29123	HP:0000430	Underdeveloped nasal alae
OMIM:148050	ANKRD11	29123	HP:0000891	Cervical ribs
OMIM:148050	ANKRD11	29123	HP:0000463	Anteverted nares
OMIM:148050	ANKRD11	29123	HP:0000506	Telecanthus
OMIM:148050	ANKRD11	29123	HP:0000028	Cryptorchidism
ORPHA:79303	AKR1D1	6718	HP:0000952	Jaundice
ORPHA:79303	AKR1D1	6718	HP:0002910	Elevated hepatic transaminases
ORPHA:79303	AKR1D1	6718	HP:0001394	Cirrhosis
ORPHA:79303	AKR1D1	6718	HP:0100626	Chronic hepatic failure
ORPHA:79303	AKR1D1	6718	HP:0001892	Abnormal bleeding
ORPHA:79303	AKR1D1	6718	HP:0006566	Neonatal cholestatic liver disease
ORPHA:79303	AKR1D1	6718	HP:0002240	Hepatomegaly
ORPHA:79303	AKR1D1	6718	HP:0001080	Biliary tract abnormality
ORPHA:79303	AKR1D1	6718	HP:0001744	Splenomegaly
ORPHA:79303	AKR1D1	6718	HP:0002024	Malabsorption
OMIM:612650	RSPH9	221421	HP:0012208	Nonmotile sperm
OMIM:612650	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:612650	RSPH9	221421	HP:0004322	Short stature
OMIM:612650	RSPH9	221421	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia
OMIM:612650	RSPH9	221421	HP:0002257	Chronic rhinitis
OMIM:612650	RSPH9	221421	HP:0012265	Ciliary dyskinesia
OMIM:612650	RSPH9	221421	HP:0003546	Exercise intolerance
OMIM:612650	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:612650	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:229050	SLC46A1	113235	HP:0000737	Irritability
OMIM:229050	SLC46A1	113235	HP:0001250	Seizures
OMIM:229050	SLC46A1	113235	HP:0001290	Generalized hypotonia
OMIM:229050	SLC46A1	113235	HP:0002305	Athetosis
OMIM:229050	SLC46A1	113235	HP:0001508	Failure to thrive
OMIM:229050	SLC46A1	113235	HP:0002719	Recurrent infections
OMIM:229050	SLC46A1	113235	HP:0001263	Global developmental delay
OMIM:229050	SLC46A1	113235	HP:0008872	Feeding difficulties in infancy
OMIM:229050	SLC46A1	113235	HP:0009830	Peripheral neuropathy
OMIM:229050	SLC46A1	113235	HP:0000007	Autosomal recessive inheritance
OMIM:229050	SLC46A1	113235	HP:0001249	Intellectual disability
OMIM:229050	SLC46A1	113235	HP:0001251	Ataxia
OMIM:229050	SLC46A1	113235	HP:0002135	Basal ganglia calcification
OMIM:229050	SLC46A1	113235	HP:0004851	Folate-responsive megaloblastic anemia
OMIM:229050	SLC46A1	113235	HP:0001875	Neutropenia
OMIM:229050	SLC46A1	113235	HP:0000155	Oral ulcer
OMIM:229050	SLC46A1	113235	HP:0001882	Leukopenia
OMIM:229050	SLC46A1	113235	HP:0002014	Diarrhea
OMIM:229050	SLC46A1	113235	HP:0001873	Thrombocytopenia
OMIM:229050	SLC46A1	113235	HP:0003593	Infantile onset
OMIM:229050	SLC46A1	113235	HP:0100660	Dyskinesia
OMIM:229050	SLC46A1	113235	HP:0002024	Malabsorption
OMIM:613489	COG4	25839	HP:0002910	Elevated hepatic transaminases
OMIM:613489	COG4	25839	HP:0001344	Absent speech
OMIM:613489	COG4	25839	HP:0002059	Cerebral atrophy
OMIM:613489	COG4	25839	HP:0000007	Autosomal recessive inheritance
OMIM:613489	COG4	25839	HP:0000737	Irritability
OMIM:613489	COG4	25839	HP:0008936	Muscular hypotonia of the trunk
OMIM:613489	COG4	25839	HP:0001290	Generalized hypotonia
OMIM:613489	COG4	25839	HP:0002205	Recurrent respiratory infections
OMIM:613489	COG4	25839	HP:0003155	Elevated alkaline phosphatase
OMIM:613489	COG4	25839	HP:0001251	Ataxia
OMIM:616413	XPR1	9213	HP:0000726	Dementia
OMIM:616413	XPR1	9213	HP:0000716	Depressivity
OMIM:616413	XPR1	9213	HP:0002135	Basal ganglia calcification
OMIM:616413	XPR1	9213	HP:0003581	Adult onset
OMIM:616413	XPR1	9213	HP:0000006	Autosomal dominant inheritance
OMIM:616413	XPR1	9213	HP:0001266	Choreoathetosis
OMIM:616413	XPR1	9213	HP:0003676	Progressive
OMIM:616413	XPR1	9213	HP:0001300	Parkinsonism
OMIM:616413	XPR1	9213	HP:0001260	Dysarthria
OMIM:616413	XPR1	9213	HP:0002354	Memory impairment
OMIM:617244	RAD51	5888	HP:0002023	Anal atresia
OMIM:617244	RAD51	5888	HP:0000252	Microcephaly
OMIM:617244	RAD51	5888	HP:0001249	Intellectual disability
OMIM:617244	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:617244	RAD51	5888	HP:0000238	Hydrocephalus
OMIM:617244	RAD51	5888	HP:0001510	Growth delay
OMIM:612644	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:612644	GJB3	2707	HP:0005101	High-frequency hearing impairment
OMIM:613101	STXBP2	6813	HP:0001433	Hepatosplenomegaly
OMIM:613101	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:613101	STXBP2	6813	HP:0001954	Episodic fever
OMIM:613101	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:613101	STXBP2	6813	HP:0003281	Increased serum ferritin
OMIM:613101	STXBP2	6813	HP:0012156	Hemophagocytosis
OMIM:613101	STXBP2	6813	HP:0012177	Abnormal natural killer cell physiology
ORPHA:137834	SH3PXD2B	285590	HP:0005280	Depressed nasal bridge
ORPHA:137834	SH3PXD2B	285590	HP:0002797	Osteolysis
ORPHA:137834	SH3PXD2B	285590	HP:0000494	Downslanted palpebral fissures
ORPHA:137834	SH3PXD2B	285590	HP:0000684	Delayed eruption of teeth
ORPHA:137834	SH3PXD2B	285590	HP:0002650	Scoliosis
ORPHA:137834	SH3PXD2B	285590	HP:0002808	Kyphosis
ORPHA:137834	SH3PXD2B	285590	HP:0004209	Clinodactyly of the 5th finger
ORPHA:137834	SH3PXD2B	285590	HP:0000212	Gingival overgrowth
ORPHA:137834	SH3PXD2B	285590	HP:0000490	Deeply set eye
ORPHA:137834	SH3PXD2B	285590	HP:0001156	Brachydactyly
ORPHA:137834	SH3PXD2B	285590	HP:0000280	Coarse facial features
ORPHA:137834	SH3PXD2B	285590	HP:0002816	Genu recurvatum
ORPHA:137834	SH3PXD2B	285590	HP:0010885	Aseptic necrosis
ORPHA:137834	SH3PXD2B	285590	HP:0001072	Thickened skin
ORPHA:137834	SH3PXD2B	285590	HP:0004568	Beaking of vertebral bodies
ORPHA:137834	SH3PXD2B	285590	HP:0006480	Premature loss of teeth
ORPHA:137834	SH3PXD2B	285590	HP:0001061	Acne
ORPHA:137834	SH3PXD2B	285590	HP:0001163	Abnormality of the metacarpal bones
ORPHA:137834	SH3PXD2B	285590	HP:0012471	Thick vermilion border
ORPHA:137834	SH3PXD2B	285590	HP:0000337	Broad forehead
ORPHA:137834	SH3PXD2B	285590	HP:0000322	Short philtrum
ORPHA:137834	SH3PXD2B	285590	HP:0001634	Mitral valve prolapse
ORPHA:137834	SH3PXD2B	285590	HP:0000431	Wide nasal bridge
ORPHA:137834	SH3PXD2B	285590	HP:0000411	Protruding ear
ORPHA:137834	SH3PXD2B	285590	HP:0000316	Hypertelorism
ORPHA:137834	SH3PXD2B	285590	HP:0100490	Camptodactyly of finger
ORPHA:137834	SH3PXD2B	285590	HP:0000303	Mandibular prognathia
ORPHA:137834	SH3PXD2B	285590	HP:0001387	Joint stiffness
ORPHA:137834	SH3PXD2B	285590	HP:0000348	High forehead
ORPHA:137834	SH3PXD2B	285590	HP:0000154	Wide mouth
ORPHA:79503	KRT1	3848	HP:0007435	Diffuse palmoplantar keratoderma
ORPHA:79503	KRT1	3848	HP:0008064	Ichthyosis
ORPHA:79503	KRT1	3848	HP:0001581	Recurrent skin infections
ORPHA:79503	KRT1	3848	HP:0008404	Nail dystrophy
ORPHA:79503	KRT1	3848	HP:0001371	Flexion contracture
OMIM:201470	ACADS	35	HP:0001254	Lethargy
OMIM:201470	ACADS	35	HP:0001508	Failure to thrive
OMIM:201470	ACADS	35	HP:0001290	Generalized hypotonia
OMIM:201470	ACADS	35	HP:0002650	Scoliosis
OMIM:201470	ACADS	35	HP:0004911	Episodic metabolic acidosis
OMIM:201470	ACADS	35	HP:0010628	Facial palsy
OMIM:201470	ACADS	35	HP:0001638	Cardiomyopathy
OMIM:201470	ACADS	35	HP:0001250	Seizures
OMIM:201470	ACADS	35	HP:0001371	Flexion contracture
OMIM:201470	ACADS	35	HP:0000007	Autosomal recessive inheritance
OMIM:201470	ACADS	35	HP:0000709	Psychosis
OMIM:201470	ACADS	35	HP:0000750	Delayed speech and language development
OMIM:201470	ACADS	35	HP:0001263	Global developmental delay
OMIM:201470	ACADS	35	HP:0003219	Ethylmalonic aciduria
OMIM:201470	ACADS	35	HP:0003198	Myopathy
OMIM:201470	ACADS	35	HP:0008872	Feeding difficulties in infancy
OMIM:201470	ACADS	35	HP:0003623	Neonatal onset
OMIM:201470	ACADS	35	HP:0002500	Abnormality of the cerebral white matter
OMIM:300291	IKBKG	8517	HP:0000968	Ectodermal dysplasia
OMIM:300291	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:300291	IKBKG	8517	HP:0002961	Dysgammaglobulinemia
OMIM:300291	IKBKG	8517	HP:0002719	Recurrent infections
OMIM:300291	IKBKG	8517	HP:0001419	X-linked recessive inheritance
OMIM:611174	IRX5	10265	HP:0000319	Smooth philtrum
OMIM:611174	IRX5	10265	HP:0002376	Developmental regression
OMIM:611174	IRX5	10265	HP:0011343	Moderate global developmental delay
OMIM:611174	IRX5	10265	HP:0001935	Microcytic anemia
OMIM:611174	IRX5	10265	HP:0000154	Wide mouth
OMIM:611174	IRX5	10265	HP:0001931	Hypochromic anemia
OMIM:611174	IRX5	10265	HP:0000007	Autosomal recessive inheritance
OMIM:611174	IRX5	10265	HP:0011003	Severe Myopia
OMIM:611174	IRX5	10265	HP:0200021	Down-sloping shoulders
OMIM:611174	IRX5	10265	HP:0000407	Sensorineural hearing impairment
OMIM:611174	IRX5	10265	HP:0000465	Webbed neck
OMIM:611174	IRX5	10265	HP:0000248	Brachycephaly
OMIM:611174	IRX5	10265	HP:0005338	Sparse lateral eyebrow
OMIM:611174	IRX5	10265	HP:0000218	High palate
OMIM:611174	IRX5	10265	HP:0002162	Low posterior hairline
OMIM:611174	IRX5	10265	HP:0000463	Anteverted nares
OMIM:611174	IRX5	10265	HP:0000343	Long philtrum
OMIM:611174	IRX5	10265	HP:0000023	Inguinal hernia
OMIM:611174	IRX5	10265	HP:0000028	Cryptorchidism
OMIM:611174	IRX5	10265	HP:0000829	Hypoparathyroidism
OMIM:611174	IRX5	10265	HP:0000316	Hypertelorism
OMIM:611174	IRX5	10265	HP:0000938	Osteopenia
OMIM:611174	IRX5	10265	HP:0001385	Hip dysplasia
OMIM:611174	IRX5	10265	HP:0009536	Short 2nd finger
OMIM:611174	IRX5	10265	HP:0000369	Low-set ears
OMIM:611174	IRX5	10265	HP:0000431	Wide nasal bridge
OMIM:231005	GBA	2629	HP:0000238	Hydrocephalus
OMIM:231005	GBA	2629	HP:0005173	Calcific aortic valve stenosis
OMIM:231005	GBA	2629	HP:0000486	Strabismus
OMIM:231005	GBA	2629	HP:0200129	Calcific mitral stenosis
OMIM:231005	GBA	2629	HP:0000623	Supranuclear ophthalmoplegia
OMIM:231005	GBA	2629	HP:0007759	Opacification of the corneal stroma
OMIM:231005	GBA	2629	HP:0001744	Splenomegaly
OMIM:231005	GBA	2629	HP:0001250	Seizures
OMIM:231005	GBA	2629	HP:0000666	Horizontal nystagmus
OMIM:231005	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:231005	GBA	2629	HP:0001876	Pancytopenia
OMIM:231005	GBA	2629	HP:0002240	Hepatomegaly
OMIM:231005	GBA	2629	HP:0001761	Pes cavus
OMIM:231005	GBA	2629	HP:0004963	Calcification of the aorta
OMIM:231005	GBA	2629	HP:0001640	Cardiomegaly
OMIM:231005	GBA	2629	HP:0007885	Slowed horizontal saccades
OMIM:231005	GBA	2629	HP:0007975	Hypometric horizontal saccades
OMIM:614524	COL11A2	1302	HP:0003173	Hypoplastic pubic bone
OMIM:614524	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614524	COL11A2	1302	HP:0001538	Protuberant abdomen
OMIM:614524	COL11A2	1302	HP:0003016	Metaphyseal widening
OMIM:614524	COL11A2	1302	HP:0005257	Thoracic hypoplasia
OMIM:614524	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:614524	COL11A2	1302	HP:0000773	Short ribs
OMIM:614524	COL11A2	1302	HP:0000946	Hypoplastic ilia
OMIM:614524	COL11A2	1302	HP:0001591	Bell-shaped thorax
OMIM:614524	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:614524	COL11A2	1302	HP:0003175	Hypoplastic ischia
OMIM:614524	COL11A2	1302	HP:0000347	Micrognathia
OMIM:614524	COL11A2	1302	HP:0003196	Short nose
OMIM:614524	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:614524	COL11A2	1302	HP:0000272	Malar flattening
OMIM:614524	COL11A2	1302	HP:0011800	Midface retrusion
OMIM:615058	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:615058	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:615058	LRIT3	345193	HP:0000545	Myopia
OMIM:209500	HR	55806	HP:0000007	Autosomal recessive inheritance
OMIM:209500	HR	55806	HP:0007482	Generalized papillary lesions
OMIM:209500	HR	55806	HP:0001006	Hypotrichosis
OMIM:151660	LMNA	4000	HP:0000822	Hypertension
OMIM:151660	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:151660	LMNA	4000	HP:0000991	Xanthomatosis
OMIM:151660	LMNA	4000	HP:0000147	Polycystic ovaries
OMIM:151660	LMNA	4000	HP:0000468	Increased adipose tissue around the neck
OMIM:151660	LMNA	4000	HP:0001397	Hepatic steatosis
OMIM:151660	LMNA	4000	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:151660	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:151660	LMNA	4000	HP:0002240	Hepatomegaly
OMIM:151660	LMNA	4000	HP:0000842	Hyperinsulinemia
OMIM:151660	LMNA	4000	HP:0000287	Increased facial adipose tissue
OMIM:151660	LMNA	4000	HP:0001735	Acute pancreatitis
OMIM:151660	LMNA	4000	HP:0003326	Myalgia
OMIM:151660	LMNA	4000	HP:0008985	Increased intramuscular fat
OMIM:151660	LMNA	4000	HP:0008887	Adipose tissue loss
OMIM:151660	LMNA	4000	HP:0009125	Lipodystrophy
OMIM:151660	LMNA	4000	HP:0003074	Hyperglycemia
OMIM:151660	LMNA	4000	HP:0008993	Increased intraabdominal fat
OMIM:151660	LMNA	4000	HP:0000311	Round face
OMIM:151660	LMNA	4000	HP:0000956	Acanthosis nigricans
OMIM:151660	LMNA	4000	HP:0001015	Prominent superficial veins
OMIM:151660	LMNA	4000	HP:0002155	Hypertriglyceridemia
OMIM:151660	LMNA	4000	HP:0002621	Atherosclerosis
OMIM:151660	LMNA	4000	HP:0008739	Labial pseudohypertrophy
OMIM:151660	LMNA	4000	HP:0009002	Loss of truncal subcutaneous adipose tissue
OMIM:151660	LMNA	4000	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:151660	LMNA	4000	HP:0001007	Hirsutism
OMIM:151660	LMNA	4000	HP:0003712	Skeletal muscle hypertrophy
OMIM:151660	LMNA	4000	HP:0012645	Enlarged peripheral nerve
OMIM:151660	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:608611	RPIA	22934	HP:0001263	Global developmental delay
OMIM:608611	RPIA	22934	HP:0000648	Optic atrophy
OMIM:608611	RPIA	22934	HP:0001250	Seizures
OMIM:608611	RPIA	22934	HP:0002352	Leukoencephalopathy
OMIM:608611	RPIA	22934	HP:0001257	Spasticity
OMIM:608611	RPIA	22934	HP:0007141	Sensorimotor neuropathy
OMIM:608611	RPIA	22934	HP:0000007	Autosomal recessive inheritance
OMIM:608611	RPIA	22934	HP:0001251	Ataxia
OMIM:608611	RPIA	22934	HP:0001271	Polyneuropathy
OMIM:608611	RPIA	22934	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:222765	GNPAT	8443	HP:0001371	Flexion contracture
OMIM:222765	GNPAT	8443	HP:0000938	Osteopenia
OMIM:222765	GNPAT	8443	HP:0008905	Rhizomelia
OMIM:222765	GNPAT	8443	HP:0000348	High forehead
OMIM:222765	GNPAT	8443	HP:0008838	Stippled calcification proximal humeral epiphyses
OMIM:222765	GNPAT	8443	HP:0000518	Cataract
OMIM:222765	GNPAT	8443	HP:0003301	Irregular vertebral endplates
OMIM:222765	GNPAT	8443	HP:0005280	Depressed nasal bridge
OMIM:222765	GNPAT	8443	HP:0000252	Microcephaly
OMIM:222765	GNPAT	8443	HP:0000463	Anteverted nares
OMIM:222765	GNPAT	8443	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:222765	GNPAT	8443	HP:0000218	High palate
OMIM:222765	GNPAT	8443	HP:0000007	Autosomal recessive inheritance
OMIM:222765	GNPAT	8443	HP:0000431	Wide nasal bridge
OMIM:222765	GNPAT	8443	HP:0000239	Large fontanelles
OMIM:222765	GNPAT	8443	HP:0001290	Generalized hypotonia
OMIM:222765	GNPAT	8443	HP:0002832	Calcific stippling
OMIM:222765	GNPAT	8443	HP:0000347	Micrognathia
OMIM:222765	GNPAT	8443	HP:0002650	Scoliosis
OMIM:222765	GNPAT	8443	HP:0005792	Short humerus
OMIM:222765	GNPAT	8443	HP:0001508	Failure to thrive
OMIM:222765	GNPAT	8443	HP:0001249	Intellectual disability
OMIM:616583	COL2A1	1280	HP:0000946	Hypoplastic ilia
OMIM:616583	COL2A1	1280	HP:0004568	Beaking of vertebral bodies
OMIM:616583	COL2A1	1280	HP:0002751	Kyphoscoliosis
OMIM:616583	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:616583	COL2A1	1280	HP:0025258	Stiff neck
OMIM:616583	COL2A1	1280	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:616583	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:616583	COL2A1	1280	HP:0002829	Arthralgia
OMIM:616583	COL2A1	1280	HP:0002673	Coxa valga
OMIM:615502	CTCF	10664	HP:0000486	Strabismus
OMIM:615502	CTCF	10664	HP:0011968	Feeding difficulties
OMIM:615502	CTCF	10664	HP:0000006	Autosomal dominant inheritance
OMIM:615502	CTCF	10664	HP:0000540	Hypermetropia
OMIM:615502	CTCF	10664	HP:0000028	Cryptorchidism
OMIM:615502	CTCF	10664	HP:0001263	Global developmental delay
OMIM:615502	CTCF	10664	HP:0000233	Thin vermilion border
OMIM:615502	CTCF	10664	HP:0000164	Abnormality of the dentition
OMIM:615502	CTCF	10664	HP:0001249	Intellectual disability
OMIM:615502	CTCF	10664	HP:0000252	Microcephaly
OMIM:615502	CTCF	10664	HP:0004322	Short stature
OMIM:615502	CTCF	10664	HP:0001290	Generalized hypotonia
OMIM:613345	SCN4A	6329	HP:0002900	Hypokalemia
OMIM:613345	SCN4A	6329	HP:0003198	Myopathy
OMIM:613345	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:613345	SCN4A	6329	HP:0003812	Phenotypic variability
OMIM:613345	SCN4A	6329	HP:0003768	Periodic paralysis
OMIM:613345	SCN4A	6329	HP:0003752	Episodic flaccid weakness
OMIM:269000	ESCO2	157570	HP:0006380	Knee flexion contracture
OMIM:269000	ESCO2	157570	HP:0009778	Short thumb
OMIM:269000	ESCO2	157570	HP:0004322	Short stature
OMIM:269000	ESCO2	157570	HP:0002645	Wormian bones
OMIM:269000	ESCO2	157570	HP:0009829	Phocomelia
OMIM:269000	ESCO2	157570	HP:0001263	Global developmental delay
OMIM:269000	ESCO2	157570	HP:0000007	Autosomal recessive inheritance
OMIM:269000	ESCO2	157570	HP:0001511	Intrauterine growth retardation
OMIM:269000	ESCO2	157570	HP:0000358	Posteriorly rotated ears
OMIM:269000	ESCO2	157570	HP:0009466	Radial deviation of finger
OMIM:269000	ESCO2	157570	HP:0000592	Blue sclerae
OMIM:269000	ESCO2	157570	HP:0002286	Fair hair
OMIM:269000	ESCO2	157570	HP:0008070	Sparse hair
OMIM:269000	ESCO2	157570	HP:0003616	Premature separation of centromeric heterochromatin
OMIM:269000	ESCO2	157570	HP:0007452	Midface capillary hemangioma
OMIM:269000	ESCO2	157570	HP:0000347	Micrognathia
OMIM:269000	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
OMIM:269000	ESCO2	157570	HP:0000204	Cleft upper lip
OMIM:269000	ESCO2	157570	HP:0003273	Hip contracture
OMIM:269000	ESCO2	157570	HP:0000252	Microcephaly
OMIM:269000	ESCO2	157570	HP:0003974	Absent radius
OMIM:269000	ESCO2	157570	HP:0003982	Aplasia of the ulna
OMIM:269000	ESCO2	157570	HP:0030084	Clinodactyly
OMIM:269000	ESCO2	157570	HP:0001650	Aortic valve stenosis
OMIM:269000	ESCO2	157570	HP:0001250	Seizures
OMIM:113500	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:113500	TRPV4	59341	HP:0003411	Proximal femoral metaphyseal irregularity
OMIM:113500	TRPV4	59341	HP:0009466	Radial deviation of finger
OMIM:113500	TRPV4	59341	HP:0001552	Barrel-shaped chest
OMIM:113500	TRPV4	59341	HP:0008922	Childhood-onset short-trunk short stature
OMIM:113500	TRPV4	59341	HP:0002176	Spinal cord compression
OMIM:113500	TRPV4	59341	HP:0000540	Hypermetropia
OMIM:113500	TRPV4	59341	HP:0002808	Kyphosis
OMIM:113500	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:113500	TRPV4	59341	HP:0000470	Short neck
OMIM:113500	TRPV4	59341	HP:0002650	Scoliosis
OMIM:113500	TRPV4	59341	HP:0030084	Clinodactyly
OMIM:113500	TRPV4	59341	HP:0100864	Short femoral neck
OMIM:613120	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:613120	SCN3B	55800	HP:0004749	Atrial flutter
OMIM:613120	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:309500	PQBP1	10084	HP:0000347	Micrognathia
OMIM:309500	PQBP1	10084	HP:0001636	Tetralogy of Fallot
OMIM:309500	PQBP1	10084	HP:0012385	Camptodactyly
OMIM:309500	PQBP1	10084	HP:0001547	Abnormality of the rib cage
OMIM:309500	PQBP1	10084	HP:0000218	High palate
OMIM:309500	PQBP1	10084	HP:0002023	Anal atresia
OMIM:309500	PQBP1	10084	HP:0000378	Cupped ear
OMIM:309500	PQBP1	10084	HP:0000047	Hypospadias
OMIM:309500	PQBP1	10084	HP:0000325	Triangular face
OMIM:309500	PQBP1	10084	HP:0000160	Narrow mouth
OMIM:309500	PQBP1	10084	HP:0002650	Scoliosis
OMIM:309500	PQBP1	10084	HP:0000276	Long face
OMIM:309500	PQBP1	10084	HP:0000540	Hypermetropia
OMIM:309500	PQBP1	10084	HP:0001249	Intellectual disability
OMIM:309500	PQBP1	10084	HP:0000175	Cleft palate
OMIM:309500	PQBP1	10084	HP:0001257	Spasticity
OMIM:309500	PQBP1	10084	HP:0000252	Microcephaly
OMIM:309500	PQBP1	10084	HP:0001696	Situs inversus totalis
OMIM:309500	PQBP1	10084	HP:0001250	Seizures
OMIM:309500	PQBP1	10084	HP:0000322	Short philtrum
OMIM:309500	PQBP1	10084	HP:0000286	Epicanthus
OMIM:309500	PQBP1	10084	HP:0001611	Nasal speech
OMIM:309500	PQBP1	10084	HP:0002033	Poor suck
OMIM:309500	PQBP1	10084	HP:0000589	Coloboma
OMIM:309500	PQBP1	10084	HP:0001761	Pes cavus
OMIM:309500	PQBP1	10084	HP:0004322	Short stature
OMIM:309500	PQBP1	10084	HP:0000272	Malar flattening
OMIM:309500	PQBP1	10084	HP:0000767	Pectus excavatum
OMIM:309500	PQBP1	10084	HP:0004209	Clinodactyly of the 5th finger
OMIM:309500	PQBP1	10084	HP:0002059	Cerebral atrophy
OMIM:309500	PQBP1	10084	HP:0000431	Wide nasal bridge
OMIM:309500	PQBP1	10084	HP:0000618	Blindness
OMIM:309500	PQBP1	10084	HP:0001786	Narrow foot
OMIM:309500	PQBP1	10084	HP:0000411	Protruding ear
OMIM:309500	PQBP1	10084	HP:0000219	Thin upper lip vermilion
OMIM:309500	PQBP1	10084	HP:0000486	Strabismus
OMIM:309500	PQBP1	10084	HP:0001347	Hyperreflexia
OMIM:309500	PQBP1	10084	HP:0000275	Narrow face
OMIM:309500	PQBP1	10084	HP:0000518	Cataract
OMIM:309500	PQBP1	10084	HP:0008070	Sparse hair
OMIM:309500	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
OMIM:309500	PQBP1	10084	HP:0000739	Anxiety
OMIM:309500	PQBP1	10084	HP:0008734	Decreased testicular size
OMIM:309500	PQBP1	10084	HP:0000248	Brachycephaly
OMIM:309500	PQBP1	10084	HP:0000303	Mandibular prognathia
OMIM:309500	PQBP1	10084	HP:0000414	Bulbous nose
OMIM:309500	PQBP1	10084	HP:0001741	Phimosis
OMIM:309500	PQBP1	10084	HP:0009473	Joint contracture of the hand
OMIM:309500	PQBP1	10084	HP:0001629	Ventricular septal defect
OMIM:309500	PQBP1	10084	HP:0000365	Hearing impairment
OMIM:309500	PQBP1	10084	HP:0000400	Macrotia
OMIM:309500	PQBP1	10084	HP:0001631	Atrial septal defect
OMIM:309500	PQBP1	10084	HP:0005338	Sparse lateral eyebrow
OMIM:309500	PQBP1	10084	HP:0001419	X-linked recessive inheritance
OMIM:614042	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:614042	ACTA2	59	HP:0011834	Moyamoya phenomenon
OMIM:614042	ACTA2	59	HP:0005111	Dilatation of the ascending aorta
OMIM:611938	CASQ2	845	HP:0001250	Seizures
OMIM:611938	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:611938	CASQ2	845	HP:0001699	Sudden death
OMIM:611938	CASQ2	845	HP:0000007	Autosomal recessive inheritance
OMIM:611938	CASQ2	845	HP:0001279	Syncope
ORPHA:709	B3GLCT	145173	HP:0000501	Glaucoma
ORPHA:709	B3GLCT	145173	HP:0008569	Microtia, second degree
ORPHA:709	B3GLCT	145173	HP:0000248	Brachycephaly
ORPHA:709	B3GLCT	145173	HP:0000582	Upslanted palpebral fissure
ORPHA:709	B3GLCT	145173	HP:0001511	Intrauterine growth retardation
ORPHA:709	B3GLCT	145173	HP:0007833	Anterior chamber synechiae
ORPHA:709	B3GLCT	145173	HP:0000518	Cataract
ORPHA:709	B3GLCT	145173	HP:0002983	Micromelia
ORPHA:709	B3GLCT	145173	HP:0000639	Nystagmus
ORPHA:709	B3GLCT	145173	HP:0001770	Toe syndactyly
ORPHA:709	B3GLCT	145173	HP:0001671	Abnormality of the cardiac septa
ORPHA:709	B3GLCT	145173	HP:0000311	Round face
ORPHA:709	B3GLCT	145173	HP:0001558	Decreased fetal movement
ORPHA:709	B3GLCT	145173	HP:0001642	Pulmonic stenosis
ORPHA:709	B3GLCT	145173	HP:0012745	Short palpebral fissure
ORPHA:709	B3GLCT	145173	HP:0001831	Short toe
ORPHA:709	B3GLCT	145173	HP:0002007	Frontal bossing
ORPHA:709	B3GLCT	145173	HP:0011220	Prominent forehead
ORPHA:709	B3GLCT	145173	HP:0000316	Hypertelorism
ORPHA:709	B3GLCT	145173	HP:0000028	Cryptorchidism
ORPHA:709	B3GLCT	145173	HP:0007957	Corneal opacity
ORPHA:709	B3GLCT	145173	HP:0000659	Peters anomaly
ORPHA:709	B3GLCT	145173	HP:0000347	Micrognathia
ORPHA:709	B3GLCT	145173	HP:0000465	Webbed neck
ORPHA:709	B3GLCT	145173	HP:0000384	Preauricular skin tag
ORPHA:709	B3GLCT	145173	HP:0002000	Short columella
ORPHA:709	B3GLCT	145173	HP:0002263	Exaggerated cupid's bow
ORPHA:709	B3GLCT	145173	HP:0000047	Hypospadias
ORPHA:709	B3GLCT	145173	HP:0000219	Thin upper lip vermilion
ORPHA:709	B3GLCT	145173	HP:0001263	Global developmental delay
ORPHA:709	B3GLCT	145173	HP:0001773	Short foot
ORPHA:709	B3GLCT	145173	HP:0000175	Cleft palate
ORPHA:709	B3GLCT	145173	HP:0001156	Brachydactyly
ORPHA:709	B3GLCT	145173	HP:0001249	Intellectual disability
ORPHA:709	B3GLCT	145173	HP:0004209	Clinodactyly of the 5th finger
ORPHA:709	B3GLCT	145173	HP:0008873	Disproportionate short-limb short stature
ORPHA:709	B3GLCT	145173	HP:0004414	Abnormality of the pulmonary artery
ORPHA:709	B3GLCT	145173	HP:0008872	Feeding difficulties in infancy
ORPHA:709	B3GLCT	145173	HP:0000343	Long philtrum
ORPHA:709	B3GLCT	145173	HP:0000204	Cleft upper lip
ORPHA:709	B3GLCT	145173	HP:0000482	Microcornea
OMIM:616282	CPT1C	126129	HP:0003202	Skeletal muscle atrophy
OMIM:616282	CPT1C	126129	HP:0003581	Adult onset
OMIM:616282	CPT1C	126129	HP:0002355	Difficulty walking
OMIM:616282	CPT1C	126129	HP:0003487	Babinski sign
OMIM:616282	CPT1C	126129	HP:0001347	Hyperreflexia
OMIM:616282	CPT1C	126129	HP:0003701	Proximal muscle weakness
OMIM:616282	CPT1C	126129	HP:0001258	Spastic paraplegia
OMIM:616282	CPT1C	126129	HP:0003677	Slow progression
OMIM:616282	CPT1C	126129	HP:0000006	Autosomal dominant inheritance
OMIM:610478	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:610478	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:610478	CACNA2D4	93589	HP:0001133	Constriction of peripheral visual field
OMIM:610478	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:610478	CACNA2D4	93589	HP:0007984	Electronegative electroretinogram
OMIM:610478	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:610478	CACNA2D4	93589	HP:0007814	Retinal pigment epithelial mottling
OMIM:610478	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:101000	NF2	4771	HP:0009830	Peripheral neuropathy
OMIM:101000	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:101000	NF2	4771	HP:0100014	Epiretinal membrane
OMIM:617389	SYNJ1	8867	HP:0002344	Progressive neurologic deterioration
OMIM:617389	SYNJ1	8867	HP:0011968	Feeding difficulties
OMIM:617389	SYNJ1	8867	HP:0002133	Status epilepticus
OMIM:617389	SYNJ1	8867	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617389	SYNJ1	8867	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617389	SYNJ1	8867	HP:0001290	Generalized hypotonia
OMIM:617389	SYNJ1	8867	HP:0200134	Epileptic encephalopathy
OMIM:617389	SYNJ1	8867	HP:0002510	Spastic tetraplegia
OMIM:617389	SYNJ1	8867	HP:0002151	Increased serum lactate
OMIM:617389	SYNJ1	8867	HP:0002187	Intellectual disability, profound
OMIM:617389	SYNJ1	8867	HP:0000007	Autosomal recessive inheritance
OMIM:617158	SQSTM1	8878	HP:0003805	Rimmed vacuoles
OMIM:617158	SQSTM1	8878	HP:0003438	Absent Achilles reflex
OMIM:617158	SQSTM1	8878	HP:0003691	Scapular winging
OMIM:617158	SQSTM1	8878	HP:0010628	Facial palsy
OMIM:617158	SQSTM1	8878	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617158	SQSTM1	8878	HP:0009027	Foot dorsiflexor weakness
OMIM:617158	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:617158	SQSTM1	8878	HP:0003376	Steppage gait
OMIM:617158	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
ORPHA:351	CTSA	5476	HP:0003468	Abnormal vertebral morphology
ORPHA:351	CTSA	5476	HP:0007957	Corneal opacity
ORPHA:351	CTSA	5476	HP:0000365	Hearing impairment
ORPHA:351	CTSA	5476	HP:0000280	Coarse facial features
ORPHA:351	CTSA	5476	HP:0001249	Intellectual disability
ORPHA:351	CTSA	5476	HP:0010729	Cherry red spot of the macula
ORPHA:351	CTSA	5476	HP:0002652	Skeletal dysplasia
ORPHA:351	CTSA	5476	HP:0001250	Seizures
OMIM:617350	SCN1B	6324	HP:0001263	Global developmental delay
OMIM:617350	SCN1B	6324	HP:0001290	Generalized hypotonia
OMIM:617350	SCN1B	6324	HP:0001257	Spasticity
OMIM:617350	SCN1B	6324	HP:0006813	Hemiclonic seizures
OMIM:617350	SCN1B	6324	HP:0200134	Epileptic encephalopathy
OMIM:617350	SCN1B	6324	HP:0007270	Atypical absence seizures
OMIM:617350	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
OMIM:617350	SCN1B	6324	HP:0002070	Limb ataxia
OMIM:617350	SCN1B	6324	HP:0000007	Autosomal recessive inheritance
OMIM:617350	SCN1B	6324	HP:0007256	Abnormal pyramidal signs
OMIM:617350	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:615451	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615451	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615451	ARMC4	55130	HP:0012265	Ciliary dyskinesia
OMIM:615451	ARMC4	55130	HP:0004469	Chronic bronchitis
OMIM:615451	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:615451	ARMC4	55130	HP:0012384	Rhinitis
OMIM:615451	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615451	ARMC4	55130	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615451	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615451	ARMC4	55130	HP:0000246	Sinusitis
OMIM:617004	SEC63	11231	HP:0000006	Autosomal dominant inheritance
OMIM:617004	SEC63	11231	HP:0002240	Hepatomegaly
OMIM:617004	SEC63	11231	HP:0001407	Hepatic cysts
OMIM:617004	SEC63	11231	HP:0003581	Adult onset
ORPHA:65282	DSP	1832	HP:0005588	Patchy palmoplantar keratoderma
ORPHA:65282	DSP	1832	HP:0001644	Dilated cardiomyopathy
ORPHA:65282	DSP	1832	HP:0002224	Woolly hair
OMIM:613561	YARS2	51067	HP:0003323	Progressive muscle weakness
OMIM:613561	YARS2	51067	HP:0003812	Phenotypic variability
OMIM:613561	YARS2	51067	HP:0000486	Strabismus
OMIM:613561	YARS2	51067	HP:0002151	Increased serum lactate
OMIM:613561	YARS2	51067	HP:0001510	Growth delay
OMIM:613561	YARS2	51067	HP:0000007	Autosomal recessive inheritance
OMIM:613561	YARS2	51067	HP:0001924	Sideroblastic anemia
OMIM:613561	YARS2	51067	HP:0002015	Dysphagia
OMIM:613561	YARS2	51067	HP:0000508	Ptosis
OMIM:613561	YARS2	51067	HP:0001508	Failure to thrive
OMIM:613561	YARS2	51067	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:613561	YARS2	51067	HP:0003128	Lactic acidosis
OMIM:613561	YARS2	51067	HP:0000639	Nystagmus
OMIM:613561	YARS2	51067	HP:0003700	Generalized amyotrophy
OMIM:613561	YARS2	51067	HP:0003676	Progressive
OMIM:613561	YARS2	51067	HP:0003546	Exercise intolerance
OMIM:606966	NPHP4	261734	HP:0000108	Renal corticomedullary cysts
OMIM:606966	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:606966	NPHP4	261734	HP:0005576	Tubulointerstitial fibrosis
OMIM:606966	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:606966	NPHP4	261734	HP:0000103	Polyuria
OMIM:606966	NPHP4	261734	HP:0001510	Growth delay
OMIM:606966	NPHP4	261734	HP:0001959	Polydipsia
OMIM:606966	NPHP4	261734	HP:0000092	Tubular atrophy
OMIM:606966	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:606966	NPHP4	261734	HP:0001903	Anemia
OMIM:609306	EEF2	1938	HP:0000641	Dysmetric saccades
OMIM:609306	EEF2	1938	HP:0002070	Limb ataxia
OMIM:609306	EEF2	1938	HP:0003677	Slow progression
OMIM:609306	EEF2	1938	HP:0001151	Impaired horizontal smooth pursuit
OMIM:609306	EEF2	1938	HP:0002066	Gait ataxia
OMIM:609306	EEF2	1938	HP:0002078	Truncal ataxia
OMIM:609306	EEF2	1938	HP:0002311	Incoordination
OMIM:609306	EEF2	1938	HP:0001260	Dysarthria
OMIM:609306	EEF2	1938	HP:0000006	Autosomal dominant inheritance
OMIM:609306	EEF2	1938	HP:0000639	Nystagmus
OMIM:609306	EEF2	1938	HP:0001272	Cerebellar atrophy
OMIM:609306	EEF2	1938	HP:0003581	Adult onset
OMIM:304150	ATP7A	538	HP:0000015	Bladder diverticulum
OMIM:304150	ATP7A	538	HP:0001278	Orthostatic hypotension
OMIM:304150	ATP7A	538	HP:0000348	High forehead
OMIM:304150	ATP7A	538	HP:0001582	Redundant skin
OMIM:304150	ATP7A	538	HP:0000939	Osteoporosis
OMIM:304150	ATP7A	538	HP:0001377	Limited elbow extension
OMIM:304150	ATP7A	538	HP:0002808	Kyphosis
OMIM:304150	ATP7A	538	HP:0000126	Hydronephrosis
OMIM:304150	ATP7A	538	HP:0001388	Joint laxity
OMIM:304150	ATP7A	538	HP:0000977	Soft skin
OMIM:304150	ATP7A	538	HP:0000472	Long neck
OMIM:304150	ATP7A	538	HP:0000768	Pectus carinatum
OMIM:304150	ATP7A	538	HP:0000885	Broad ribs
OMIM:304150	ATP7A	538	HP:0002673	Coxa valga
OMIM:304150	ATP7A	538	HP:0001241	Capitate-hamate fusion
OMIM:304150	ATP7A	538	HP:0002208	Coarse hair
OMIM:304150	ATP7A	538	HP:0000916	Broad clavicles
OMIM:304150	ATP7A	538	HP:0000444	Convex nasal ridge
OMIM:304150	ATP7A	538	HP:0000926	Platyspondyly
OMIM:304150	ATP7A	538	HP:0000276	Long face
OMIM:304150	ATP7A	538	HP:0002862	Bladder carcinoma
OMIM:304150	ATP7A	538	HP:0000343	Long philtrum
OMIM:304150	ATP7A	538	HP:0000767	Pectus excavatum
OMIM:304150	ATP7A	538	HP:0005792	Short humerus
OMIM:304150	ATP7A	538	HP:0000978	Bruising susceptibility
OMIM:304150	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:304150	ATP7A	538	HP:0004474	Persistent open anterior fontanelle
OMIM:304150	ATP7A	538	HP:0000218	High palate
OMIM:304150	ATP7A	538	HP:0002857	Genu valgum
OMIM:304150	ATP7A	538	HP:0000275	Narrow face
OMIM:304150	ATP7A	538	HP:0000894	Short clavicles
OMIM:304150	ATP7A	538	HP:0001763	Pes planus
OMIM:304150	ATP7A	538	HP:0003276	Pelvic bone exostoses
OMIM:304150	ATP7A	538	HP:0003066	Limited knee extension
OMIM:304150	ATP7A	538	HP:0000974	Hyperextensible skin
OMIM:304150	ATP7A	538	HP:0002036	Hiatus hernia
OMIM:304150	ATP7A	538	HP:0002028	Chronic diarrhea
OMIM:304150	ATP7A	538	HP:0005302	Carotid artery tortuosity
OMIM:304150	ATP7A	538	HP:0000774	Narrow chest
OMIM:304150	ATP7A	538	HP:0006000	Ureteral obstruction
OMIM:224690	ORC1	4998	HP:0000252	Microcephaly
OMIM:224690	ORC1	4998	HP:0000028	Cryptorchidism
OMIM:224690	ORC1	4998	HP:0000218	High palate
OMIM:224690	ORC1	4998	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	ORC1	4998	HP:0000059	Hypoplastic labia majora
OMIM:224690	ORC1	4998	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	ORC1	4998	HP:0002857	Genu valgum
OMIM:224690	ORC1	4998	HP:0000369	Low-set ears
OMIM:224690	ORC1	4998	HP:0003100	Slender long bone
OMIM:224690	ORC1	4998	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	ORC1	4998	HP:0000911	Flat glenoid fossa
OMIM:224690	ORC1	4998	HP:0001762	Talipes equinovarus
OMIM:224690	ORC1	4998	HP:0000054	Micropenis
OMIM:224690	ORC1	4998	HP:0012745	Short palpebral fissure
OMIM:224690	ORC1	4998	HP:0000581	Blepharophimosis
OMIM:224690	ORC1	4998	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	ORC1	4998	HP:0002937	Hemivertebrae
OMIM:224690	ORC1	4998	HP:0002970	Genu varum
OMIM:224690	ORC1	4998	HP:0000413	Atresia of the external auditory canal
OMIM:224690	ORC1	4998	HP:0000883	Thin ribs
OMIM:224690	ORC1	4998	HP:0000160	Narrow mouth
OMIM:224690	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	ORC1	4998	HP:0002007	Frontal bossing
OMIM:224690	ORC1	4998	HP:0001795	Hyperconvex nail
OMIM:224690	ORC1	4998	HP:0001425	Heterogeneous
OMIM:224690	ORC1	4998	HP:0012385	Camptodactyly
OMIM:224690	ORC1	4998	HP:0000486	Strabismus
OMIM:224690	ORC1	4998	HP:0001623	Breech presentation
OMIM:224690	ORC1	4998	HP:0000237	Small anterior fontanelle
OMIM:224690	ORC1	4998	HP:0000049	Shawl scrotum
OMIM:224690	ORC1	4998	HP:0000691	Microdontia
OMIM:224690	ORC1	4998	HP:0001508	Failure to thrive
OMIM:224690	ORC1	4998	HP:0000064	Hypoplastic labia minora
OMIM:224690	ORC1	4998	HP:0000175	Cleft palate
OMIM:224690	ORC1	4998	HP:0000179	Thick lower lip vermilion
OMIM:224690	ORC1	4998	HP:0000895	Lateral clavicle hook
OMIM:224690	ORC1	4998	HP:0003042	Elbow dislocation
OMIM:224690	ORC1	4998	HP:0000527	Long eyelashes
OMIM:224690	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:224690	ORC1	4998	HP:0001518	Small for gestational age
OMIM:224690	ORC1	4998	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:224690	ORC1	4998	HP:0008872	Feeding difficulties in infancy
OMIM:224690	ORC1	4998	HP:0004279	Short palm
OMIM:224690	ORC1	4998	HP:0000963	Thin skin
OMIM:224690	ORC1	4998	HP:0006628	Absent sternal ossification
OMIM:224690	ORC1	4998	HP:0003561	Birth length less than 3rd percentile
OMIM:224690	ORC1	4998	HP:0009473	Joint contracture of the hand
OMIM:224690	ORC1	4998	HP:0008665	Clitoral hypertrophy
OMIM:224690	ORC1	4998	HP:0006591	Absent glenoid fossa
OMIM:224690	ORC1	4998	HP:0000768	Pectus carinatum
OMIM:224690	ORC1	4998	HP:0000347	Micrognathia
OMIM:224690	ORC1	4998	HP:0008551	Microtia
OMIM:224690	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:224690	ORC1	4998	HP:0002020	Gastroesophageal reflux
OMIM:224690	ORC1	4998	HP:0200055	Small hand
OMIM:224690	ORC1	4998	HP:0002098	Respiratory distress
OMIM:224690	ORC1	4998	HP:0000365	Hearing impairment
OMIM:224690	ORC1	4998	HP:0003187	Breast hypoplasia
OMIM:224690	ORC1	4998	HP:0001249	Intellectual disability
OMIM:224690	ORC1	4998	HP:0001388	Joint laxity
OMIM:224690	ORC1	4998	HP:0000773	Short ribs
OMIM:613402	PNKP	11284	HP:0001250	Seizures
OMIM:613402	PNKP	11284	HP:0000007	Autosomal recessive inheritance
OMIM:613402	PNKP	11284	HP:0001270	Motor delay
OMIM:613402	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	PNKP	11284	HP:0010864	Intellectual disability, severe
OMIM:613402	PNKP	11284	HP:0002119	Ventriculomegaly
OMIM:613402	PNKP	11284	HP:0009879	Cortical gyral simplification
OMIM:613402	PNKP	11284	HP:0001290	Generalized hypotonia
OMIM:613402	PNKP	11284	HP:0003202	Skeletal muscle atrophy
OMIM:613402	PNKP	11284	HP:0000752	Hyperactivity
OMIM:613402	PNKP	11284	HP:0000253	Progressive microcephaly
OMIM:613402	PNKP	11284	HP:0200134	Epileptic encephalopathy
ORPHA:3464	DCAF17	80067	HP:0010464	Streak ovary
ORPHA:3464	DCAF17	80067	HP:0000411	Protruding ear
ORPHA:3464	DCAF17	80067	HP:0008669	Abnormal spermatogenesis
ORPHA:3464	DCAF17	80067	HP:0003077	Hyperlipidemia
ORPHA:3464	DCAF17	80067	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:3464	DCAF17	80067	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:3464	DCAF17	80067	HP:0008619	Bilateral sensorineural hearing impairment
ORPHA:3464	DCAF17	80067	HP:0008734	Decreased testicular size
ORPHA:3464	DCAF17	80067	HP:0000821	Hypothyroidism
ORPHA:3464	DCAF17	80067	HP:0005135	Abnormal T-wave
ORPHA:3464	DCAF17	80067	HP:0008697	Hypoplasia of the fallopian tube
ORPHA:3464	DCAF17	80067	HP:0040171	Decreased serum testosterone level
ORPHA:3464	DCAF17	80067	HP:0001596	Alopecia
ORPHA:3464	DCAF17	80067	HP:0000013	Hypoplasia of the uterus
ORPHA:3464	DCAF17	80067	HP:0001266	Choreoathetosis
ORPHA:3464	DCAF17	80067	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:3464	DCAF17	80067	HP:0001268	Mental deterioration
ORPHA:3464	DCAF17	80067	HP:0000054	Micropenis
ORPHA:3464	DCAF17	80067	HP:0008209	Premature ovarian insufficiency
ORPHA:3464	DCAF17	80067	HP:0001260	Dysarthria
ORPHA:3464	DCAF17	80067	HP:0008214	Decreased serum estradiol
ORPHA:3464	DCAF17	80067	HP:0001249	Intellectual disability
ORPHA:3464	DCAF17	80067	HP:0001332	Dystonia
OMIM:617174	C1S	716	HP:0002664	Neoplasm
OMIM:617174	C1S	716	HP:0000978	Bruising susceptibility
OMIM:617174	C1S	716	HP:0001030	Fragile skin
OMIM:617174	C1S	716	HP:0001382	Joint hypermobility
OMIM:617174	C1S	716	HP:0000006	Autosomal dominant inheritance
ORPHA:963	AIP	9049	HP:0002758	Osteoarthritis
ORPHA:963	AIP	9049	HP:0000293	Full cheeks
ORPHA:963	AIP	9049	HP:0000040	Long penis
ORPHA:963	AIP	9049	HP:0012802	Broad jaw
ORPHA:963	AIP	9049	HP:0100540	Palpebral edema
ORPHA:963	AIP	9049	HP:0001231	Abnormality of the fingernails
ORPHA:963	AIP	9049	HP:0002829	Arthralgia
ORPHA:963	AIP	9049	HP:0000280	Coarse facial features
ORPHA:963	AIP	9049	HP:0001609	Hoarse voice
ORPHA:963	AIP	9049	HP:0000739	Anxiety
ORPHA:963	AIP	9049	HP:0000975	Hyperhidrosis
ORPHA:963	AIP	9049	HP:0002808	Kyphosis
ORPHA:963	AIP	9049	HP:0002007	Frontal bossing
ORPHA:963	AIP	9049	HP:0008388	Abnormal toenail morphology
ORPHA:963	AIP	9049	HP:0000276	Long face
ORPHA:963	AIP	9049	HP:0004099	Macrodactyly
ORPHA:963	AIP	9049	HP:0001386	Joint swelling
ORPHA:963	AIP	9049	HP:0010535	Sleep apnea
ORPHA:963	AIP	9049	HP:0002076	Migraine
ORPHA:963	AIP	9049	HP:0000303	Mandibular prognathia
ORPHA:963	AIP	9049	HP:0003416	Spinal canal stenosis
ORPHA:963	AIP	9049	HP:0000337	Broad forehead
ORPHA:963	AIP	9049	HP:0000664	Synophrys
ORPHA:963	AIP	9049	HP:0000179	Thick lower lip vermilion
ORPHA:963	AIP	9049	HP:0000158	Macroglossia
ORPHA:963	AIP	9049	HP:0000400	Macrotia
ORPHA:963	AIP	9049	HP:0000445	Wide nose
ORPHA:963	AIP	9049	HP:0006191	Deep palmar crease
ORPHA:963	AIP	9049	HP:0000716	Depressivity
ORPHA:963	AIP	9049	HP:0000830	Anterior hypopituitarism
ORPHA:963	AIP	9049	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:963	AIP	9049	HP:0100021	Cerebral palsy
ORPHA:963	AIP	9049	HP:0001176	Large hands
ORPHA:963	AIP	9049	HP:0001869	Deep plantar creases
ORPHA:963	AIP	9049	HP:0002230	Generalized hirsutism
ORPHA:963	AIP	9049	HP:0003401	Paresthesia
ORPHA:963	AIP	9049	HP:0000687	Widely spaced teeth
ORPHA:963	AIP	9049	HP:0000819	Diabetes mellitus
ORPHA:963	AIP	9049	HP:0000822	Hypertension
ORPHA:963	AIP	9049	HP:0003859	Cortical diaphyseal thickening of the upper limbs
ORPHA:963	AIP	9049	HP:0100607	Dysmenorrhea
ORPHA:963	AIP	9049	HP:0001769	Broad foot
ORPHA:963	AIP	9049	HP:0000098	Tall stature
ORPHA:963	AIP	9049	HP:0001182	Tapered finger
ORPHA:963	AIP	9049	HP:0012378	Fatigue
ORPHA:963	GPR101	83550	HP:0002758	Osteoarthritis
ORPHA:963	GPR101	83550	HP:0000293	Full cheeks
ORPHA:963	GPR101	83550	HP:0000040	Long penis
ORPHA:963	GPR101	83550	HP:0012802	Broad jaw
ORPHA:963	GPR101	83550	HP:0100540	Palpebral edema
ORPHA:963	GPR101	83550	HP:0001231	Abnormality of the fingernails
ORPHA:963	GPR101	83550	HP:0002829	Arthralgia
ORPHA:963	GPR101	83550	HP:0000280	Coarse facial features
ORPHA:963	GPR101	83550	HP:0001609	Hoarse voice
ORPHA:963	GPR101	83550	HP:0000739	Anxiety
ORPHA:963	GPR101	83550	HP:0000975	Hyperhidrosis
ORPHA:963	GPR101	83550	HP:0002808	Kyphosis
ORPHA:963	GPR101	83550	HP:0002007	Frontal bossing
ORPHA:963	GPR101	83550	HP:0008388	Abnormal toenail morphology
ORPHA:963	GPR101	83550	HP:0000276	Long face
ORPHA:963	GPR101	83550	HP:0004099	Macrodactyly
ORPHA:963	GPR101	83550	HP:0001386	Joint swelling
ORPHA:963	GPR101	83550	HP:0010535	Sleep apnea
ORPHA:963	GPR101	83550	HP:0002076	Migraine
ORPHA:963	GPR101	83550	HP:0000303	Mandibular prognathia
ORPHA:963	GPR101	83550	HP:0003416	Spinal canal stenosis
ORPHA:963	GPR101	83550	HP:0000337	Broad forehead
ORPHA:963	GPR101	83550	HP:0000664	Synophrys
ORPHA:963	GPR101	83550	HP:0000179	Thick lower lip vermilion
ORPHA:963	GPR101	83550	HP:0000158	Macroglossia
ORPHA:963	GPR101	83550	HP:0000400	Macrotia
ORPHA:963	GPR101	83550	HP:0000445	Wide nose
ORPHA:963	GPR101	83550	HP:0006191	Deep palmar crease
ORPHA:963	GPR101	83550	HP:0000716	Depressivity
ORPHA:963	GPR101	83550	HP:0000830	Anterior hypopituitarism
ORPHA:963	GPR101	83550	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:963	GPR101	83550	HP:0100021	Cerebral palsy
ORPHA:963	GPR101	83550	HP:0001176	Large hands
ORPHA:963	GPR101	83550	HP:0001869	Deep plantar creases
ORPHA:963	GPR101	83550	HP:0002230	Generalized hirsutism
ORPHA:963	GPR101	83550	HP:0003401	Paresthesia
ORPHA:963	GPR101	83550	HP:0000687	Widely spaced teeth
ORPHA:963	GPR101	83550	HP:0000819	Diabetes mellitus
ORPHA:963	GPR101	83550	HP:0000822	Hypertension
ORPHA:963	GPR101	83550	HP:0003859	Cortical diaphyseal thickening of the upper limbs
ORPHA:963	GPR101	83550	HP:0100607	Dysmenorrhea
ORPHA:963	GPR101	83550	HP:0001769	Broad foot
ORPHA:963	GPR101	83550	HP:0000098	Tall stature
ORPHA:963	GPR101	83550	HP:0001182	Tapered finger
ORPHA:963	GPR101	83550	HP:0012378	Fatigue
OMIM:156240	WT1	7490	HP:0001428	Somatic mutation
OMIM:156240	WT1	7490	HP:0100001	Malignant mesothelioma
OMIM:616247	CALM1	801	HP:0001699	Sudden death
OMIM:616247	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:616247	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:300978	RLIM	51132	HP:0002465	Poor speech
OMIM:300978	RLIM	51132	HP:0000337	Broad forehead
OMIM:300978	RLIM	51132	HP:0001419	X-linked recessive inheritance
OMIM:300978	RLIM	51132	HP:0000448	Prominent nose
OMIM:300978	RLIM	51132	HP:0000708	Behavioral abnormality
OMIM:300978	RLIM	51132	HP:0001249	Intellectual disability
OMIM:300978	RLIM	51132	HP:0000316	Hypertelorism
OMIM:300978	RLIM	51132	HP:0000028	Cryptorchidism
OMIM:300978	RLIM	51132	HP:0000431	Wide nasal bridge
OMIM:300978	RLIM	51132	HP:0000252	Microcephaly
OMIM:300978	RLIM	51132	HP:0001263	Global developmental delay
OMIM:300978	RLIM	51132	HP:0011968	Feeding difficulties
OMIM:300978	RLIM	51132	HP:0000347	Micrognathia
OMIM:300978	RLIM	51132	HP:0002213	Fine hair
ORPHA:500	BRAF	673	HP:0000995	Melanocytic nevus
ORPHA:500	BRAF	673	HP:0000974	Hyperextensible skin
ORPHA:500	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:500	BRAF	673	HP:0000431	Wide nasal bridge
ORPHA:500	BRAF	673	HP:0000768	Pectus carinatum
ORPHA:500	BRAF	673	HP:0003691	Scapular winging
ORPHA:500	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:500	BRAF	673	HP:0001634	Mitral valve prolapse
ORPHA:500	BRAF	673	HP:0001642	Pulmonic stenosis
ORPHA:500	BRAF	673	HP:0001003	Multiple lentigines
ORPHA:500	BRAF	673	HP:0001480	Freckling
ORPHA:500	BRAF	673	HP:0004322	Short stature
ORPHA:500	BRAF	673	HP:0006695	Atrioventricular canal defect
ORPHA:500	BRAF	673	HP:0000465	Webbed neck
ORPHA:500	BRAF	673	HP:0000316	Hypertelorism
ORPHA:500	BRAF	673	HP:0000767	Pectus excavatum
ORPHA:500	BRAF	673	HP:0000144	Decreased fertility
ORPHA:500	BRAF	673	HP:0000508	Ptosis
ORPHA:500	BRAF	673	HP:0011675	Arrhythmia
ORPHA:500	BRAF	673	HP:0004414	Abnormality of the pulmonary artery
ORPHA:500	BRAF	673	HP:0008625	Severe sensorineural hearing impairment
ORPHA:500	BRAF	673	HP:0000912	Sprengel anomaly
ORPHA:500	BRAF	673	HP:0011710	Bundle branch block
ORPHA:500	BRAF	673	HP:0001511	Intrauterine growth retardation
ORPHA:500	BRAF	673	HP:0000028	Cryptorchidism
ORPHA:500	PTPN11	5781	HP:0000995	Melanocytic nevus
ORPHA:500	PTPN11	5781	HP:0000974	Hyperextensible skin
ORPHA:500	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:500	PTPN11	5781	HP:0000431	Wide nasal bridge
ORPHA:500	PTPN11	5781	HP:0000768	Pectus carinatum
ORPHA:500	PTPN11	5781	HP:0003691	Scapular winging
ORPHA:500	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:500	PTPN11	5781	HP:0001634	Mitral valve prolapse
ORPHA:500	PTPN11	5781	HP:0001642	Pulmonic stenosis
ORPHA:500	PTPN11	5781	HP:0001003	Multiple lentigines
ORPHA:500	PTPN11	5781	HP:0001480	Freckling
ORPHA:500	PTPN11	5781	HP:0004322	Short stature
ORPHA:500	PTPN11	5781	HP:0006695	Atrioventricular canal defect
ORPHA:500	PTPN11	5781	HP:0000465	Webbed neck
ORPHA:500	PTPN11	5781	HP:0000316	Hypertelorism
ORPHA:500	PTPN11	5781	HP:0000767	Pectus excavatum
ORPHA:500	PTPN11	5781	HP:0000144	Decreased fertility
ORPHA:500	PTPN11	5781	HP:0000508	Ptosis
ORPHA:500	PTPN11	5781	HP:0011675	Arrhythmia
ORPHA:500	PTPN11	5781	HP:0004414	Abnormality of the pulmonary artery
ORPHA:500	PTPN11	5781	HP:0008625	Severe sensorineural hearing impairment
ORPHA:500	PTPN11	5781	HP:0000912	Sprengel anomaly
ORPHA:500	PTPN11	5781	HP:0011710	Bundle branch block
ORPHA:500	PTPN11	5781	HP:0001511	Intrauterine growth retardation
ORPHA:500	PTPN11	5781	HP:0000028	Cryptorchidism
ORPHA:500	RAF1	5894	HP:0000995	Melanocytic nevus
ORPHA:500	RAF1	5894	HP:0000974	Hyperextensible skin
ORPHA:500	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:500	RAF1	5894	HP:0000431	Wide nasal bridge
ORPHA:500	RAF1	5894	HP:0000768	Pectus carinatum
ORPHA:500	RAF1	5894	HP:0003691	Scapular winging
ORPHA:500	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:500	RAF1	5894	HP:0001634	Mitral valve prolapse
ORPHA:500	RAF1	5894	HP:0001642	Pulmonic stenosis
ORPHA:500	RAF1	5894	HP:0001003	Multiple lentigines
ORPHA:500	RAF1	5894	HP:0001480	Freckling
ORPHA:500	RAF1	5894	HP:0004322	Short stature
ORPHA:500	RAF1	5894	HP:0006695	Atrioventricular canal defect
ORPHA:500	RAF1	5894	HP:0000465	Webbed neck
ORPHA:500	RAF1	5894	HP:0000316	Hypertelorism
ORPHA:500	RAF1	5894	HP:0000767	Pectus excavatum
ORPHA:500	RAF1	5894	HP:0000144	Decreased fertility
ORPHA:500	RAF1	5894	HP:0000508	Ptosis
ORPHA:500	RAF1	5894	HP:0011675	Arrhythmia
ORPHA:500	RAF1	5894	HP:0004414	Abnormality of the pulmonary artery
ORPHA:500	RAF1	5894	HP:0008625	Severe sensorineural hearing impairment
ORPHA:500	RAF1	5894	HP:0000912	Sprengel anomaly
ORPHA:500	RAF1	5894	HP:0011710	Bundle branch block
ORPHA:500	RAF1	5894	HP:0001511	Intrauterine growth retardation
ORPHA:500	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:610042	CNTNAP2	26047	HP:0001250	Seizures
OMIM:610042	CNTNAP2	26047	HP:0001249	Intellectual disability
OMIM:610042	CNTNAP2	26047	HP:0000752	Hyperactivity
OMIM:610042	CNTNAP2	26047	HP:0001315	Reduced tendon reflexes
OMIM:610042	CNTNAP2	26047	HP:0007064	Progressive language deterioration
OMIM:610042	CNTNAP2	26047	HP:0000735	Impaired social interactions
OMIM:610042	CNTNAP2	26047	HP:0002194	Delayed gross motor development
OMIM:610042	CNTNAP2	26047	HP:0002539	Cortical dysplasia
ORPHA:79401	PLEC	5339	HP:0200041	Skin erosion
ORPHA:79401	PLEC	5339	HP:0008066	Abnormal blistering of the skin
ORPHA:79401	PLEC	5339	HP:0000978	Bruising susceptibility
ORPHA:79401	PLEC	5339	HP:0001805	Thick nail
ORPHA:861	TCOF1	6949	HP:0000272	Malar flattening
ORPHA:861	TCOF1	6949	HP:0000278	Retrognathia
ORPHA:861	TCOF1	6949	HP:0000431	Wide nasal bridge
ORPHA:861	TCOF1	6949	HP:0000561	Absent eyelashes
ORPHA:861	TCOF1	6949	HP:0011386	Narrow internal auditory canal
ORPHA:861	TCOF1	6949	HP:0000494	Downslanted palpebral fissures
ORPHA:861	TCOF1	6949	HP:0002007	Frontal bossing
ORPHA:861	TCOF1	6949	HP:0000612	Iris coloboma
ORPHA:861	TCOF1	6949	HP:0000505	Visual impairment
ORPHA:861	TCOF1	6949	HP:0010807	Open bite
ORPHA:861	TCOF1	6949	HP:0000294	Low anterior hairline
ORPHA:861	TCOF1	6949	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:861	TCOF1	6949	HP:0000347	Micrognathia
ORPHA:861	TCOF1	6949	HP:0004348	Abnormality of bone mineral density
ORPHA:861	TCOF1	6949	HP:0002652	Skeletal dysplasia
ORPHA:861	TCOF1	6949	HP:0008551	Microtia
ORPHA:861	TCOF1	6949	HP:0000405	Conductive hearing impairment
ORPHA:861	TCOF1	6949	HP:0009804	Reduced number of teeth
ORPHA:861	TCOF1	6949	HP:0000327	Hypoplasia of the maxilla
ORPHA:861	TCOF1	6949	HP:0000486	Strabismus
ORPHA:861	TCOF1	6949	HP:0011800	Midface retrusion
ORPHA:861	TCOF1	6949	HP:0000625	Cleft eyelid
ORPHA:861	TCOF1	6949	HP:0011219	Short face
ORPHA:861	POLR1D	51082	HP:0000272	Malar flattening
ORPHA:861	POLR1D	51082	HP:0000278	Retrognathia
ORPHA:861	POLR1D	51082	HP:0000431	Wide nasal bridge
ORPHA:861	POLR1D	51082	HP:0000561	Absent eyelashes
ORPHA:861	POLR1D	51082	HP:0011386	Narrow internal auditory canal
ORPHA:861	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
ORPHA:861	POLR1D	51082	HP:0002007	Frontal bossing
ORPHA:861	POLR1D	51082	HP:0000612	Iris coloboma
ORPHA:861	POLR1D	51082	HP:0000505	Visual impairment
ORPHA:861	POLR1D	51082	HP:0010807	Open bite
ORPHA:861	POLR1D	51082	HP:0000294	Low anterior hairline
ORPHA:861	POLR1D	51082	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:861	POLR1D	51082	HP:0000347	Micrognathia
ORPHA:861	POLR1D	51082	HP:0004348	Abnormality of bone mineral density
ORPHA:861	POLR1D	51082	HP:0002652	Skeletal dysplasia
ORPHA:861	POLR1D	51082	HP:0008551	Microtia
ORPHA:861	POLR1D	51082	HP:0000405	Conductive hearing impairment
ORPHA:861	POLR1D	51082	HP:0009804	Reduced number of teeth
ORPHA:861	POLR1D	51082	HP:0000327	Hypoplasia of the maxilla
ORPHA:861	POLR1D	51082	HP:0000486	Strabismus
ORPHA:861	POLR1D	51082	HP:0011800	Midface retrusion
ORPHA:861	POLR1D	51082	HP:0000625	Cleft eyelid
ORPHA:861	POLR1D	51082	HP:0011219	Short face
ORPHA:861	POLR1C	9533	HP:0000272	Malar flattening
ORPHA:861	POLR1C	9533	HP:0000278	Retrognathia
ORPHA:861	POLR1C	9533	HP:0000431	Wide nasal bridge
ORPHA:861	POLR1C	9533	HP:0000561	Absent eyelashes
ORPHA:861	POLR1C	9533	HP:0011386	Narrow internal auditory canal
ORPHA:861	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
ORPHA:861	POLR1C	9533	HP:0002007	Frontal bossing
ORPHA:861	POLR1C	9533	HP:0000612	Iris coloboma
ORPHA:861	POLR1C	9533	HP:0000505	Visual impairment
ORPHA:861	POLR1C	9533	HP:0010807	Open bite
ORPHA:861	POLR1C	9533	HP:0000294	Low anterior hairline
ORPHA:861	POLR1C	9533	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:861	POLR1C	9533	HP:0000347	Micrognathia
ORPHA:861	POLR1C	9533	HP:0004348	Abnormality of bone mineral density
ORPHA:861	POLR1C	9533	HP:0002652	Skeletal dysplasia
ORPHA:861	POLR1C	9533	HP:0008551	Microtia
ORPHA:861	POLR1C	9533	HP:0000405	Conductive hearing impairment
ORPHA:861	POLR1C	9533	HP:0009804	Reduced number of teeth
ORPHA:861	POLR1C	9533	HP:0000327	Hypoplasia of the maxilla
ORPHA:861	POLR1C	9533	HP:0000486	Strabismus
ORPHA:861	POLR1C	9533	HP:0011800	Midface retrusion
ORPHA:861	POLR1C	9533	HP:0000625	Cleft eyelid
ORPHA:861	POLR1C	9533	HP:0011219	Short face
OMIM:614959	KCNT1	57582	HP:0001290	Generalized hypotonia
OMIM:614959	KCNT1	57582	HP:0002169	Clonus
OMIM:614959	KCNT1	57582	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	KCNT1	57582	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	KCNT1	57582	HP:0003676	Progressive
OMIM:614959	KCNT1	57582	HP:0200134	Epileptic encephalopathy
OMIM:614959	KCNT1	57582	HP:0001257	Spasticity
OMIM:614959	KCNT1	57582	HP:0002376	Developmental regression
OMIM:614959	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:614959	KCNT1	57582	HP:0002120	Cerebral cortical atrophy
OMIM:614959	KCNT1	57582	HP:0002171	Gliosis
OMIM:614959	KCNT1	57582	HP:0000252	Microcephaly
OMIM:614959	KCNT1	57582	HP:0002133	Status epilepticus
OMIM:614959	KCNT1	57582	HP:0002445	Tetraplegia
OMIM:616553	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:616553	ACD	65057	HP:0000007	Autosomal recessive inheritance
OMIM:616553	ACD	65057	HP:0001915	Aplastic anemia
OMIM:616553	ACD	65057	HP:0002745	Oral leukoplakia
OMIM:616553	ACD	65057	HP:0000252	Microcephaly
OMIM:616553	ACD	65057	HP:0001263	Global developmental delay
OMIM:616553	ACD	65057	HP:0001511	Intrauterine growth retardation
OMIM:616553	ACD	65057	HP:0008404	Nail dystrophy
OMIM:616553	ACD	65057	HP:0010450	Esophageal stenosis
OMIM:616553	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:616553	ACD	65057	HP:0000006	Autosomal dominant inheritance
OMIM:613255	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613255	VCL	7414	HP:0006685	Endocardial fibrosis
OMIM:613255	VCL	7414	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613255	VCL	7414	HP:0002094	Dyspnea
OMIM:613255	VCL	7414	HP:0001635	Congestive heart failure
OMIM:300910	PLS3	5358	HP:0002953	Vertebral compression fractures
OMIM:300910	PLS3	5358	HP:0000939	Osteoporosis
OMIM:300910	PLS3	5358	HP:0000938	Osteopenia
OMIM:300910	PLS3	5358	HP:0001423	X-linked dominant inheritance
OMIM:608890	SNAI2	6591	HP:0000506	Telecanthus
OMIM:608890	SNAI2	6591	HP:0000007	Autosomal recessive inheritance
OMIM:608890	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:608890	SNAI2	6591	HP:0008527	Congenital sensorineural hearing impairment
OMIM:608890	SNAI2	6591	HP:0001425	Heterogeneous
OMIM:264300	HSD17B3	3293	HP:0000821	Hypothyroidism
OMIM:264300	HSD17B3	3293	HP:0000037	Male pseudohermaphroditism
OMIM:264300	HSD17B3	3293	HP:0000789	Infertility
OMIM:264300	HSD17B3	3293	HP:0000007	Autosomal recessive inheritance
OMIM:264300	HSD17B3	3293	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264300	HSD17B3	3293	HP:0000771	Gynecomastia
OMIM:614172	GATA2	2624	HP:0002721	Immunodeficiency
OMIM:614172	GATA2	2624	HP:0003812	Phenotypic variability
OMIM:614172	GATA2	2624	HP:0004429	Recurrent viral infections
OMIM:614172	GATA2	2624	HP:0000006	Autosomal dominant inheritance
OMIM:614172	GATA2	2624	HP:0011275	Recurrent mycobacterium avium complex infections
OMIM:614172	GATA2	2624	HP:0012176	Abnormal natural killer morphology
OMIM:614172	GATA2	2624	HP:0001875	Neutropenia
OMIM:614172	GATA2	2624	HP:0012312	Monocytopenia
OMIM:614172	GATA2	2624	HP:0002841	Recurrent fungal infections
ORPHA:93271	WDR34	89891	HP:0005716	Lethal skeletal dysplasia
ORPHA:93271	WDR34	89891	HP:0000089	Renal hypoplasia
ORPHA:93271	WDR34	89891	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHA:93271	WDR34	89891	HP:0001162	Postaxial hand polydactyly
ORPHA:93271	WDR34	89891	HP:0000204	Cleft upper lip
ORPHA:93271	WDR34	89891	HP:0000774	Narrow chest
ORPHA:93271	WDR34	89891	HP:0000126	Hydronephrosis
ORPHA:93271	WDR34	89891	HP:0000773	Short ribs
ORPHA:93271	WDR34	89891	HP:0000028	Cryptorchidism
ORPHA:93271	WDR34	89891	HP:0010306	Short thorax
ORPHA:93271	WDR34	89891	HP:0003270	Abdominal distention
ORPHA:93271	WDR34	89891	HP:0000286	Epicanthus
ORPHA:93271	WDR34	89891	HP:0001789	Hydrops fetalis
ORPHA:93271	WDR34	89891	HP:0000256	Macrocephaly
ORPHA:93271	WDR34	89891	HP:0002093	Respiratory insufficiency
ORPHA:93271	WDR34	89891	HP:0000445	Wide nose
ORPHA:93271	WDR34	89891	HP:0008716	Urethrovaginal fistula
ORPHA:93271	WDR34	89891	HP:0000944	Abnormality of the metaphysis
ORPHA:93271	WDR34	89891	HP:0003762	Uterus didelphys
ORPHA:93271	WDR34	89891	HP:0005280	Depressed nasal bridge
ORPHA:93271	WDR34	89891	HP:0002983	Micromelia
ORPHA:93271	WDR34	89891	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93271	WDR34	89891	HP:0008873	Disproportionate short-limb short stature
ORPHA:93271	WDR34	89891	HP:0000343	Long philtrum
ORPHA:93271	WDR34	89891	HP:0001773	Short foot
ORPHA:93271	WDR34	89891	HP:0002612	Congenital hepatic fibrosis
ORPHA:93271	WDR34	89891	HP:0000062	Ambiguous genitalia
ORPHA:93271	WDR34	89891	HP:0009106	Abnormal pelvis bone ossification
ORPHA:93271	WDR34	89891	HP:0004279	Short palm
ORPHA:93271	WDR34	89891	HP:0002007	Frontal bossing
ORPHA:93271	WDR34	89891	HP:0000347	Micrognathia
ORPHA:93271	WDR34	89891	HP:0008736	Hypoplasia of penis
ORPHA:93271	WDR35	57539	HP:0005716	Lethal skeletal dysplasia
ORPHA:93271	WDR35	57539	HP:0000089	Renal hypoplasia
ORPHA:93271	WDR35	57539	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHA:93271	WDR35	57539	HP:0001162	Postaxial hand polydactyly
ORPHA:93271	WDR35	57539	HP:0000204	Cleft upper lip
ORPHA:93271	WDR35	57539	HP:0000774	Narrow chest
ORPHA:93271	WDR35	57539	HP:0000126	Hydronephrosis
ORPHA:93271	WDR35	57539	HP:0000773	Short ribs
ORPHA:93271	WDR35	57539	HP:0000028	Cryptorchidism
ORPHA:93271	WDR35	57539	HP:0010306	Short thorax
ORPHA:93271	WDR35	57539	HP:0003270	Abdominal distention
ORPHA:93271	WDR35	57539	HP:0000286	Epicanthus
ORPHA:93271	WDR35	57539	HP:0001789	Hydrops fetalis
ORPHA:93271	WDR35	57539	HP:0000256	Macrocephaly
ORPHA:93271	WDR35	57539	HP:0002093	Respiratory insufficiency
ORPHA:93271	WDR35	57539	HP:0000445	Wide nose
ORPHA:93271	WDR35	57539	HP:0008716	Urethrovaginal fistula
ORPHA:93271	WDR35	57539	HP:0000944	Abnormality of the metaphysis
ORPHA:93271	WDR35	57539	HP:0003762	Uterus didelphys
ORPHA:93271	WDR35	57539	HP:0005280	Depressed nasal bridge
ORPHA:93271	WDR35	57539	HP:0002983	Micromelia
ORPHA:93271	WDR35	57539	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93271	WDR35	57539	HP:0008873	Disproportionate short-limb short stature
ORPHA:93271	WDR35	57539	HP:0000343	Long philtrum
ORPHA:93271	WDR35	57539	HP:0001773	Short foot
ORPHA:93271	WDR35	57539	HP:0002612	Congenital hepatic fibrosis
ORPHA:93271	WDR35	57539	HP:0000062	Ambiguous genitalia
ORPHA:93271	WDR35	57539	HP:0009106	Abnormal pelvis bone ossification
ORPHA:93271	WDR35	57539	HP:0004279	Short palm
ORPHA:93271	WDR35	57539	HP:0002007	Frontal bossing
ORPHA:93271	WDR35	57539	HP:0000347	Micrognathia
ORPHA:93271	WDR35	57539	HP:0008736	Hypoplasia of penis
ORPHA:93271	IFT80	57560	HP:0005716	Lethal skeletal dysplasia
ORPHA:93271	IFT80	57560	HP:0000089	Renal hypoplasia
ORPHA:93271	IFT80	57560	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHA:93271	IFT80	57560	HP:0001162	Postaxial hand polydactyly
ORPHA:93271	IFT80	57560	HP:0000204	Cleft upper lip
ORPHA:93271	IFT80	57560	HP:0000774	Narrow chest
ORPHA:93271	IFT80	57560	HP:0000126	Hydronephrosis
ORPHA:93271	IFT80	57560	HP:0000773	Short ribs
ORPHA:93271	IFT80	57560	HP:0000028	Cryptorchidism
ORPHA:93271	IFT80	57560	HP:0010306	Short thorax
ORPHA:93271	IFT80	57560	HP:0003270	Abdominal distention
ORPHA:93271	IFT80	57560	HP:0000286	Epicanthus
ORPHA:93271	IFT80	57560	HP:0001789	Hydrops fetalis
ORPHA:93271	IFT80	57560	HP:0000256	Macrocephaly
ORPHA:93271	IFT80	57560	HP:0002093	Respiratory insufficiency
ORPHA:93271	IFT80	57560	HP:0000445	Wide nose
ORPHA:93271	IFT80	57560	HP:0008716	Urethrovaginal fistula
ORPHA:93271	IFT80	57560	HP:0000944	Abnormality of the metaphysis
ORPHA:93271	IFT80	57560	HP:0003762	Uterus didelphys
ORPHA:93271	IFT80	57560	HP:0005280	Depressed nasal bridge
ORPHA:93271	IFT80	57560	HP:0002983	Micromelia
ORPHA:93271	IFT80	57560	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93271	IFT80	57560	HP:0008873	Disproportionate short-limb short stature
ORPHA:93271	IFT80	57560	HP:0000343	Long philtrum
ORPHA:93271	IFT80	57560	HP:0001773	Short foot
ORPHA:93271	IFT80	57560	HP:0002612	Congenital hepatic fibrosis
ORPHA:93271	IFT80	57560	HP:0000062	Ambiguous genitalia
ORPHA:93271	IFT80	57560	HP:0009106	Abnormal pelvis bone ossification
ORPHA:93271	IFT80	57560	HP:0004279	Short palm
ORPHA:93271	IFT80	57560	HP:0002007	Frontal bossing
ORPHA:93271	IFT80	57560	HP:0000347	Micrognathia
ORPHA:93271	IFT80	57560	HP:0008736	Hypoplasia of penis
ORPHA:93271	WDR60	55112	HP:0005716	Lethal skeletal dysplasia
ORPHA:93271	WDR60	55112	HP:0000089	Renal hypoplasia
ORPHA:93271	WDR60	55112	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHA:93271	WDR60	55112	HP:0001162	Postaxial hand polydactyly
ORPHA:93271	WDR60	55112	HP:0000204	Cleft upper lip
ORPHA:93271	WDR60	55112	HP:0000774	Narrow chest
ORPHA:93271	WDR60	55112	HP:0000126	Hydronephrosis
ORPHA:93271	WDR60	55112	HP:0000773	Short ribs
ORPHA:93271	WDR60	55112	HP:0000028	Cryptorchidism
ORPHA:93271	WDR60	55112	HP:0010306	Short thorax
ORPHA:93271	WDR60	55112	HP:0003270	Abdominal distention
ORPHA:93271	WDR60	55112	HP:0000286	Epicanthus
ORPHA:93271	WDR60	55112	HP:0001789	Hydrops fetalis
ORPHA:93271	WDR60	55112	HP:0000256	Macrocephaly
ORPHA:93271	WDR60	55112	HP:0002093	Respiratory insufficiency
ORPHA:93271	WDR60	55112	HP:0000445	Wide nose
ORPHA:93271	WDR60	55112	HP:0008716	Urethrovaginal fistula
ORPHA:93271	WDR60	55112	HP:0000944	Abnormality of the metaphysis
ORPHA:93271	WDR60	55112	HP:0003762	Uterus didelphys
ORPHA:93271	WDR60	55112	HP:0005280	Depressed nasal bridge
ORPHA:93271	WDR60	55112	HP:0002983	Micromelia
ORPHA:93271	WDR60	55112	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93271	WDR60	55112	HP:0008873	Disproportionate short-limb short stature
ORPHA:93271	WDR60	55112	HP:0000343	Long philtrum
ORPHA:93271	WDR60	55112	HP:0001773	Short foot
ORPHA:93271	WDR60	55112	HP:0002612	Congenital hepatic fibrosis
ORPHA:93271	WDR60	55112	HP:0000062	Ambiguous genitalia
ORPHA:93271	WDR60	55112	HP:0009106	Abnormal pelvis bone ossification
ORPHA:93271	WDR60	55112	HP:0004279	Short palm
ORPHA:93271	WDR60	55112	HP:0002007	Frontal bossing
ORPHA:93271	WDR60	55112	HP:0000347	Micrognathia
ORPHA:93271	WDR60	55112	HP:0008736	Hypoplasia of penis
ORPHA:93271	DYNC2H1	79659	HP:0005716	Lethal skeletal dysplasia
ORPHA:93271	DYNC2H1	79659	HP:0000089	Renal hypoplasia
ORPHA:93271	DYNC2H1	79659	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHA:93271	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
ORPHA:93271	DYNC2H1	79659	HP:0000204	Cleft upper lip
ORPHA:93271	DYNC2H1	79659	HP:0000774	Narrow chest
ORPHA:93271	DYNC2H1	79659	HP:0000126	Hydronephrosis
ORPHA:93271	DYNC2H1	79659	HP:0000773	Short ribs
ORPHA:93271	DYNC2H1	79659	HP:0000028	Cryptorchidism
ORPHA:93271	DYNC2H1	79659	HP:0010306	Short thorax
ORPHA:93271	DYNC2H1	79659	HP:0003270	Abdominal distention
ORPHA:93271	DYNC2H1	79659	HP:0000286	Epicanthus
ORPHA:93271	DYNC2H1	79659	HP:0001789	Hydrops fetalis
ORPHA:93271	DYNC2H1	79659	HP:0000256	Macrocephaly
ORPHA:93271	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
ORPHA:93271	DYNC2H1	79659	HP:0000445	Wide nose
ORPHA:93271	DYNC2H1	79659	HP:0008716	Urethrovaginal fistula
ORPHA:93271	DYNC2H1	79659	HP:0000944	Abnormality of the metaphysis
ORPHA:93271	DYNC2H1	79659	HP:0003762	Uterus didelphys
ORPHA:93271	DYNC2H1	79659	HP:0005280	Depressed nasal bridge
ORPHA:93271	DYNC2H1	79659	HP:0002983	Micromelia
ORPHA:93271	DYNC2H1	79659	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93271	DYNC2H1	79659	HP:0008873	Disproportionate short-limb short stature
ORPHA:93271	DYNC2H1	79659	HP:0000343	Long philtrum
ORPHA:93271	DYNC2H1	79659	HP:0001773	Short foot
ORPHA:93271	DYNC2H1	79659	HP:0002612	Congenital hepatic fibrosis
ORPHA:93271	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
ORPHA:93271	DYNC2H1	79659	HP:0009106	Abnormal pelvis bone ossification
ORPHA:93271	DYNC2H1	79659	HP:0004279	Short palm
ORPHA:93271	DYNC2H1	79659	HP:0002007	Frontal bossing
ORPHA:93271	DYNC2H1	79659	HP:0000347	Micrognathia
ORPHA:93271	DYNC2H1	79659	HP:0008736	Hypoplasia of penis
OMIM:251880	DGUOK	1716	HP:0006581	Depletion of mitochondrial DNA in liver
OMIM:251880	DGUOK	1716	HP:0002909	Generalized aminoaciduria
OMIM:251880	DGUOK	1716	HP:0008872	Feeding difficulties in infancy
OMIM:251880	DGUOK	1716	HP:0001873	Thrombocytopenia
OMIM:251880	DGUOK	1716	HP:0001405	Periportal fibrosis
OMIM:251880	DGUOK	1716	HP:0002904	Hyperbilirubinemia
OMIM:251880	DGUOK	1716	HP:0002910	Elevated hepatic transaminases
OMIM:251880	DGUOK	1716	HP:0001943	Hypoglycemia
OMIM:251880	DGUOK	1716	HP:0000952	Jaundice
OMIM:251880	DGUOK	1716	HP:0001271	Polyneuropathy
OMIM:251880	DGUOK	1716	HP:0001290	Generalized hypotonia
OMIM:251880	DGUOK	1716	HP:0001409	Portal hypertension
OMIM:251880	DGUOK	1716	HP:0000549	Abnormal conjugate eye movement
OMIM:251880	DGUOK	1716	HP:0001250	Seizures
OMIM:251880	DGUOK	1716	HP:0001508	Failure to thrive
OMIM:251880	DGUOK	1716	HP:0001298	Encephalopathy
OMIM:251880	DGUOK	1716	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:251880	DGUOK	1716	HP:0001541	Ascites
OMIM:251880	DGUOK	1716	HP:0001744	Splenomegaly
OMIM:251880	DGUOK	1716	HP:0003128	Lactic acidosis
OMIM:251880	DGUOK	1716	HP:0002240	Hepatomegaly
OMIM:251880	DGUOK	1716	HP:0001510	Growth delay
OMIM:251880	DGUOK	1716	HP:0001404	Hepatocellular necrosis
OMIM:251880	DGUOK	1716	HP:0000639	Nystagmus
OMIM:251880	DGUOK	1716	HP:0000007	Autosomal recessive inheritance
OMIM:251880	DGUOK	1716	HP:0001413	Micronodular cirrhosis
OMIM:251880	DGUOK	1716	HP:0002059	Cerebral atrophy
OMIM:251880	DGUOK	1716	HP:0001347	Hyperreflexia
OMIM:251880	DGUOK	1716	HP:0002045	Hypothermia
OMIM:251880	DGUOK	1716	HP:0003073	Hypoalbuminemia
OMIM:251880	DGUOK	1716	HP:0000252	Microcephaly
OMIM:251880	DGUOK	1716	HP:0002013	Vomiting
OMIM:251880	DGUOK	1716	HP:0001397	Hepatic steatosis
OMIM:251880	DGUOK	1716	HP:0001399	Hepatic failure
ORPHA:282166	PRNP	5621	HP:0005327	Loss of facial expression
ORPHA:282166	PRNP	5621	HP:0000726	Dementia
ORPHA:282166	PRNP	5621	HP:0006943	Diffuse spongiform leukoencephalopathy
ORPHA:282166	PRNP	5621	HP:0000712	Emotional lability
ORPHA:282166	PRNP	5621	HP:0000751	Personality changes
ORPHA:282166	PRNP	5621	HP:0002529	Neuronal loss in central nervous system
ORPHA:282166	PRNP	5621	HP:0007183	Focal T2 hyperintense basal ganglia lesion
ORPHA:282166	PRNP	5621	HP:0002283	Global brain atrophy
ORPHA:282166	PRNP	5621	HP:0002312	Clumsiness
ORPHA:282166	PRNP	5621	HP:0001350	Slurred speech
ORPHA:282166	PRNP	5621	HP:0002446	Astrocytosis
ORPHA:282166	PRNP	5621	HP:0011099	Spastic hemiparesis
ORPHA:282166	PRNP	5621	HP:0025152	Poor visual behavior for age
ORPHA:282166	PRNP	5621	HP:0002073	Progressive cerebellar ataxia
ORPHA:282166	PRNP	5621	HP:0007158	Progressive extrapyramidal muscular rigidity
ORPHA:282166	PRNP	5621	HP:0000741	Apathy
ORPHA:282166	PRNP	5621	HP:0000739	Anxiety
ORPHA:282166	PRNP	5621	HP:0001250	Seizures
ORPHA:282166	PRNP	5621	HP:0003487	Babinski sign
ORPHA:282166	PRNP	5621	HP:0007017	Progressive forgetfulness
ORPHA:282166	PRNP	5621	HP:0001337	Tremor
ORPHA:282166	PRNP	5621	HP:0000716	Depressivity
ORPHA:282166	PRNP	5621	HP:0001289	Confusion
ORPHA:282166	PRNP	5621	HP:0000737	Irritability
ORPHA:282166	PRNP	5621	HP:0001324	Muscle weakness
ORPHA:282166	PRNP	5621	HP:0001336	Myoclonus
ORPHA:282166	PRNP	5621	HP:0010846	EEG with persistent abnormal rhythmic activity
ORPHA:282166	PRNP	5621	HP:0002459	Dysautonomia
ORPHA:282166	PRNP	5621	HP:0002067	Bradykinesia
ORPHA:282166	PRNP	5621	HP:0002401	Stroke-like episode
ORPHA:282166	PRNP	5621	HP:0012672	Akinetic mutism
ORPHA:282166	PRNP	5621	HP:0100256	Senile plaques
ORPHA:282166	PRNP	5621	HP:0002066	Gait ataxia
ORPHA:282166	PRNP	5621	HP:0007009	Central nervous system degeneration
ORPHA:282166	PRNP	5621	HP:0000605	Supranuclear gaze palsy
ORPHA:282166	PRNP	5621	HP:0000736	Short attention span
ORPHA:282166	PRNP	5621	HP:0100786	Hypersomnia
ORPHA:282166	PRNP	5621	HP:0100785	Insomnia
ORPHA:282166	PRNP	5621	HP:0002464	Spastic dysarthria
OMIM:218330	IFT122	55764	HP:0001816	Thin nail
OMIM:218330	IFT122	55764	HP:0000687	Widely spaced teeth
OMIM:218330	IFT122	55764	HP:0009882	Short distal phalanx of finger
OMIM:218330	IFT122	55764	HP:0012622	Chronic kidney disease
OMIM:218330	IFT122	55764	HP:0000668	Hypodontia
OMIM:218330	IFT122	55764	HP:0002901	Hypocalcemia
OMIM:218330	IFT122	55764	HP:0002217	Slow-growing hair
OMIM:218330	IFT122	55764	HP:0006297	Hypoplasia of dental enamel
OMIM:218330	IFT122	55764	HP:0003038	Fibular hypoplasia
OMIM:218330	IFT122	55764	HP:0004442	Sagittal craniosynostosis
OMIM:218330	IFT122	55764	HP:0001837	Broad toe
OMIM:218330	IFT122	55764	HP:0001538	Protuberant abdomen
OMIM:218330	IFT122	55764	HP:0030084	Clinodactyly
OMIM:218330	IFT122	55764	HP:0001407	Hepatic cysts
OMIM:218330	IFT122	55764	HP:0002007	Frontal bossing
OMIM:218330	IFT122	55764	HP:0009880	Broad distal phalanges of all fingers
OMIM:218330	IFT122	55764	HP:0000293	Full cheeks
OMIM:218330	IFT122	55764	HP:0000773	Short ribs
OMIM:218330	IFT122	55764	HP:0001388	Joint laxity
OMIM:218330	IFT122	55764	HP:0000767	Pectus excavatum
OMIM:218330	IFT122	55764	HP:0005567	Renal magnesium wasting
OMIM:218330	IFT122	55764	HP:0005792	Short humerus
OMIM:218330	IFT122	55764	HP:0006563	Malformation of the hepatic ductal plate
OMIM:218330	IFT122	55764	HP:0001970	Tubulointerstitial nephritis
OMIM:218330	IFT122	55764	HP:0000939	Osteoporosis
OMIM:218330	IFT122	55764	HP:0009466	Radial deviation of finger
OMIM:218330	IFT122	55764	HP:0000639	Nystagmus
OMIM:218330	IFT122	55764	HP:0000286	Epicanthus
OMIM:218330	IFT122	55764	HP:0000506	Telecanthus
OMIM:218330	IFT122	55764	HP:0001647	Bicuspid aortic valve
OMIM:218330	IFT122	55764	HP:0000774	Narrow chest
OMIM:218330	IFT122	55764	HP:0008905	Rhizomelia
OMIM:218330	IFT122	55764	HP:0003071	Flattened epiphysis
OMIM:218330	IFT122	55764	HP:0001831	Short toe
OMIM:218330	IFT122	55764	HP:0000545	Myopia
OMIM:218330	IFT122	55764	HP:0001395	Hepatic fibrosis
OMIM:218330	IFT122	55764	HP:0000463	Anteverted nares
OMIM:218330	IFT122	55764	HP:0000556	Retinal dystrophy
OMIM:218330	IFT122	55764	HP:0001799	Short nail
OMIM:218330	IFT122	55764	HP:0002705	High, narrow palate
OMIM:218330	IFT122	55764	HP:0000232	Everted lower lip vermilion
OMIM:218330	IFT122	55764	HP:0002213	Fine hair
OMIM:218330	IFT122	55764	HP:0000674	Anodontia
OMIM:218330	IFT122	55764	HP:0001399	Hepatic failure
OMIM:218330	IFT122	55764	HP:0000968	Ectodermal dysplasia
OMIM:218330	IFT122	55764	HP:0030799	Scaphocephaly
OMIM:218330	IFT122	55764	HP:0002240	Hepatomegaly
OMIM:218330	IFT122	55764	HP:0000431	Wide nasal bridge
OMIM:218330	IFT122	55764	HP:0000601	Hypotelorism
OMIM:218330	IFT122	55764	HP:0000691	Microdontia
OMIM:218330	IFT122	55764	HP:0001156	Brachydactyly
OMIM:218330	IFT122	55764	HP:0000007	Autosomal recessive inheritance
OMIM:218330	IFT122	55764	HP:0004298	Abnormality of the abdominal wall
OMIM:218330	IFT122	55764	HP:0008070	Sparse hair
OMIM:218330	IFT122	55764	HP:0000954	Single transverse palmar crease
ORPHA:79277	UROS	7390	HP:0001744	Splenomegaly
ORPHA:79277	UROS	7390	HP:0008066	Abnormal blistering of the skin
ORPHA:79277	UROS	7390	HP:0000987	Atypical scarring of skin
ORPHA:79277	UROS	7390	HP:0000998	Hypertrichosis
ORPHA:79277	UROS	7390	HP:0000992	Cutaneous photosensitivity
ORPHA:79277	UROS	7390	HP:0010472	Abnormality of the heme biosynthetic pathway
ORPHA:79277	UROS	7390	HP:0002757	Recurrent fractures
ORPHA:79277	UROS	7390	HP:0000938	Osteopenia
ORPHA:79277	UROS	7390	HP:0002721	Immunodeficiency
ORPHA:79277	UROS	7390	HP:0001878	Hemolytic anemia
ORPHA:79277	UROS	7390	HP:0001760	Abnormality of the foot
ORPHA:79277	UROS	7390	HP:0001155	Abnormality of the hand
ORPHA:79277	UROS	7390	HP:0001581	Recurrent skin infections
ORPHA:79277	UROS	7390	HP:0012086	Abnormal urinary color
ORPHA:79277	GATA1	2623	HP:0001744	Splenomegaly
ORPHA:79277	GATA1	2623	HP:0008066	Abnormal blistering of the skin
ORPHA:79277	GATA1	2623	HP:0000987	Atypical scarring of skin
ORPHA:79277	GATA1	2623	HP:0000998	Hypertrichosis
ORPHA:79277	GATA1	2623	HP:0000992	Cutaneous photosensitivity
ORPHA:79277	GATA1	2623	HP:0010472	Abnormality of the heme biosynthetic pathway
ORPHA:79277	GATA1	2623	HP:0002757	Recurrent fractures
ORPHA:79277	GATA1	2623	HP:0000938	Osteopenia
ORPHA:79277	GATA1	2623	HP:0002721	Immunodeficiency
ORPHA:79277	GATA1	2623	HP:0001878	Hemolytic anemia
ORPHA:79277	GATA1	2623	HP:0001760	Abnormality of the foot
ORPHA:79277	GATA1	2623	HP:0001155	Abnormality of the hand
ORPHA:79277	GATA1	2623	HP:0001581	Recurrent skin infections
ORPHA:79277	GATA1	2623	HP:0012086	Abnormal urinary color
OMIM:232500	GBE1	2632	HP:0001324	Muscle weakness
OMIM:232500	GBE1	2632	HP:0001561	Polyhydramnios
OMIM:232500	GBE1	2632	HP:0001315	Reduced tendon reflexes
OMIM:232500	GBE1	2632	HP:0001290	Generalized hypotonia
OMIM:232500	GBE1	2632	HP:0001558	Decreased fetal movement
OMIM:232500	GBE1	2632	HP:0001399	Hepatic failure
OMIM:232500	GBE1	2632	HP:0001394	Cirrhosis
OMIM:232500	GBE1	2632	HP:0005576	Tubulointerstitial fibrosis
OMIM:232500	GBE1	2632	HP:0000007	Autosomal recessive inheritance
OMIM:232500	GBE1	2632	HP:0001638	Cardiomyopathy
OMIM:232500	GBE1	2632	HP:0001789	Hydrops fetalis
OMIM:232500	GBE1	2632	HP:0002040	Esophageal varix
OMIM:232500	GBE1	2632	HP:0002804	Arthrogryposis multiplex congenita
OMIM:232500	GBE1	2632	HP:0001409	Portal hypertension
OMIM:232500	GBE1	2632	HP:0001541	Ascites
OMIM:232500	GBE1	2632	HP:0001508	Failure to thrive
OMIM:232500	GBE1	2632	HP:0000969	Edema
OMIM:232500	GBE1	2632	HP:0003202	Skeletal muscle atrophy
OMIM:232500	GBE1	2632	HP:0001433	Hepatosplenomegaly
OMIM:615632	ATL3	25923	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:615632	ATL3	25923	HP:0002600	Hyporeflexia of lower limbs
OMIM:615632	ATL3	25923	HP:0000962	Hyperkeratosis
OMIM:615632	ATL3	25923	HP:0002754	Osteomyelitis
OMIM:615632	ATL3	25923	HP:0003390	Sensory axonal neuropathy
OMIM:615632	ATL3	25923	HP:0001822	Hallux valgus
OMIM:615632	ATL3	25923	HP:0000006	Autosomal dominant inheritance
OMIM:300422	CASK	8573	HP:0000316	Hypertelorism
OMIM:300422	CASK	8573	HP:0001249	Intellectual disability
OMIM:300422	CASK	8573	HP:0001417	X-linked inheritance
OMIM:300422	CASK	8573	HP:0000431	Wide nasal bridge
OMIM:300422	CASK	8573	HP:0001263	Global developmental delay
OMIM:300814	GPR143	4935	HP:0000484	Hyperopic astigmatism
OMIM:300814	GPR143	4935	HP:0000666	Horizontal nystagmus
OMIM:300814	GPR143	4935	HP:0001417	X-linked inheritance
OMIM:300814	GPR143	4935	HP:0000646	Amblyopia
OMIM:613159	XPNPEP3	63929	HP:0003774	Stage 5 chronic kidney disease
OMIM:613159	XPNPEP3	63929	HP:0000108	Renal corticomedullary cysts
OMIM:613159	XPNPEP3	63929	HP:0000007	Autosomal recessive inheritance
OMIM:613159	XPNPEP3	63929	HP:0005583	Tubular basement membrane disintegration
OMIM:613159	XPNPEP3	63929	HP:0000092	Tubular atrophy
OMIM:613159	XPNPEP3	63929	HP:0000090	Nephronophthisis
OMIM:613159	XPNPEP3	63929	HP:0030186	Kinetic tremor
OMIM:178600	BMPR2	659	HP:0005317	Increased pulmonary vascular resistance
OMIM:178600	BMPR2	659	HP:0000822	Hypertension
OMIM:178600	BMPR2	659	HP:0005312	Pulmonary aterial intimal fibrosis
OMIM:178600	BMPR2	659	HP:0001977	Abnormal thrombosis
OMIM:178600	BMPR2	659	HP:0003829	Incomplete penetrance
OMIM:178600	BMPR2	659	HP:0002094	Dyspnea
OMIM:178600	BMPR2	659	HP:0005308	Pulmonary artery vasoconstriction
OMIM:178600	BMPR2	659	HP:0001009	Telangiectasia
OMIM:178600	BMPR2	659	HP:0011353	Arterial intimal fibrosis
OMIM:178600	BMPR2	659	HP:0001667	Right ventricular hypertrophy
OMIM:178600	BMPR2	659	HP:0000006	Autosomal dominant inheritance
OMIM:178600	BMPR2	659	HP:0005168	Elevated right atrial pressure
OMIM:178600	BMPR2	659	HP:0001708	Right ventricular failure
OMIM:178600	BMPR2	659	HP:0004964	Pulmonary arterial medial hypertrophy
OMIM:160120	KCNA1	3736	HP:0002131	Episodic ataxia
OMIM:160120	KCNA1	3736	HP:0003828	Variable expressivity
OMIM:160120	KCNA1	3736	HP:0003487	Babinski sign
OMIM:160120	KCNA1	3736	HP:0000006	Autosomal dominant inheritance
OMIM:160120	KCNA1	3736	HP:0001350	Slurred speech
OMIM:160120	KCNA1	3736	HP:0001347	Hyperreflexia
OMIM:160120	KCNA1	3736	HP:0002064	Spastic gait
OMIM:160120	KCNA1	3736	HP:0002411	Myokymia
OMIM:160120	KCNA1	3736	HP:0001260	Dysarthria
OMIM:160120	KCNA1	3736	HP:0001155	Abnormality of the hand
OMIM:160120	KCNA1	3736	HP:0002321	Vertigo
OMIM:160120	KCNA1	3736	HP:0000622	Blurred vision
OMIM:160120	KCNA1	3736	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160120	KCNA1	3736	HP:0002315	Headache
OMIM:160120	KCNA1	3736	HP:0003621	Juvenile onset
OMIM:160120	KCNA1	3736	HP:0001337	Tremor
ORPHA:94089	STX16	8675	HP:0000518	Cataract
ORPHA:94089	STX16	8675	HP:0000852	Pseudohypoparathyroidism
ORPHA:94089	STX16	8675	HP:0000684	Delayed eruption of teeth
ORPHA:94089	STX16	8675	HP:0000470	Short neck
ORPHA:94089	STX16	8675	HP:0004322	Short stature
ORPHA:94089	STX16	8675	HP:0000293	Full cheeks
ORPHA:94089	STX16	8675	HP:0002905	Hyperphosphatemia
ORPHA:94089	STX16	8675	HP:0000311	Round face
ORPHA:94089	STX16	8675	HP:0000639	Nystagmus
ORPHA:94089	STX16	8675	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:94089	STX16	8675	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:94089	STX16	8675	HP:0005280	Depressed nasal bridge
ORPHA:94089	STX16	8675	HP:0006297	Hypoplasia of dental enamel
ORPHA:94089	GNAS	2778	HP:0000518	Cataract
ORPHA:94089	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:94089	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:94089	GNAS	2778	HP:0000470	Short neck
ORPHA:94089	GNAS	2778	HP:0004322	Short stature
ORPHA:94089	GNAS	2778	HP:0000293	Full cheeks
ORPHA:94089	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:94089	GNAS	2778	HP:0000311	Round face
ORPHA:94089	GNAS	2778	HP:0000639	Nystagmus
ORPHA:94089	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:94089	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:94089	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:94089	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:270960	SYCP3	50511	HP:0000007	Autosomal recessive inheritance
OMIM:270960	SYCP3	50511	HP:0000027	Azoospermia
OMIM:270960	SYCP3	50511	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270960	SYCP3	50511	HP:0200067	Recurrent spontaneous abortion
OMIM:270960	SYCP3	50511	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:601462	CHRNA1	1134	HP:0003443	Decreased size of nerve terminals
OMIM:601462	CHRNA1	1134	HP:0003324	Generalized muscle weakness
OMIM:601462	CHRNA1	1134	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:601462	CHRNA1	1134	HP:0003473	Fatigable weakness
OMIM:601462	CHRNA1	1134	HP:0001260	Dysarthria
OMIM:601462	CHRNA1	1134	HP:0003554	Type 2 muscle fiber atrophy
OMIM:601462	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:601462	CHRNA1	1134	HP:0003436	Prolonged miniature endplate currents
OMIM:601462	CHRNA1	1134	HP:0000508	Ptosis
OMIM:601462	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:601462	CHRNA1	1134	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
OMIM:601462	CHRNA1	1134	HP:0003674	Onset
ORPHA:100	ATM	472	HP:0002205	Recurrent respiratory infections
ORPHA:100	ATM	472	HP:0000823	Delayed puberty
ORPHA:100	ATM	472	HP:0005374	Cellular immunodeficiency
ORPHA:100	ATM	472	HP:0100585	Telangiectasia of the skin
ORPHA:100	ATM	472	HP:0001250	Seizures
ORPHA:100	ATM	472	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHA:100	ATM	472	HP:0001288	Gait disturbance
ORPHA:100	ATM	472	HP:0001888	Lymphopenia
ORPHA:100	ATM	472	HP:0000147	Polycystic ovaries
ORPHA:100	ATM	472	HP:0004322	Short stature
ORPHA:100	ATM	472	HP:0000639	Nystagmus
ORPHA:100	ATM	472	HP:0001257	Spasticity
ORPHA:100	ATM	472	HP:0001260	Dysarthria
ORPHA:100	ATM	472	HP:0004313	Decreased antibody level in blood
ORPHA:100	ATM	472	HP:0003220	Abnormality of chromosome stability
ORPHA:100	ATM	472	HP:0005599	Hypopigmentation of hair
ORPHA:100	ATM	472	HP:0100579	Mucosal telangiectasiae
ORPHA:100	ATM	472	HP:0001251	Ataxia
ORPHA:100	ATM	472	HP:0003202	Skeletal muscle atrophy
ORPHA:100	ATM	472	HP:0000486	Strabismus
ORPHA:100	ATM	472	HP:0002910	Elevated hepatic transaminases
ORPHA:100	ATM	472	HP:0001337	Tremor
ORPHA:100	ATM	472	HP:0002216	Premature graying of hair
ORPHA:100	ATM	472	HP:0002664	Neoplasm
ORPHA:193	VPS13B	157680	HP:0001000	Abnormality of skin pigmentation
ORPHA:193	VPS13B	157680	HP:0001531	Failure to thrive in infancy
ORPHA:193	VPS13B	157680	HP:0001875	Neutropenia
ORPHA:193	VPS13B	157680	HP:0001252	Muscular hypotonia
ORPHA:193	VPS13B	157680	HP:0001182	Tapered finger
ORPHA:193	VPS13B	157680	HP:0008872	Feeding difficulties in infancy
ORPHA:193	VPS13B	157680	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHA:193	VPS13B	157680	HP:0001558	Decreased fetal movement
ORPHA:193	VPS13B	157680	HP:0000347	Micrognathia
ORPHA:193	VPS13B	157680	HP:0000494	Downslanted palpebral fissures
ORPHA:193	VPS13B	157680	HP:0000527	Long eyelashes
ORPHA:193	VPS13B	157680	HP:0009804	Reduced number of teeth
ORPHA:193	VPS13B	157680	HP:0000426	Prominent nasal bridge
ORPHA:193	VPS13B	157680	HP:0001249	Intellectual disability
ORPHA:193	VPS13B	157680	HP:0002705	High, narrow palate
ORPHA:193	VPS13B	157680	HP:0000252	Microcephaly
ORPHA:193	VPS13B	157680	HP:0200046	Cat cry
ORPHA:193	VPS13B	157680	HP:0000194	Open mouth
ORPHA:193	VPS13B	157680	HP:0001263	Global developmental delay
ORPHA:193	VPS13B	157680	HP:0001852	Sandal gap
ORPHA:193	VPS13B	157680	HP:0011308	Slender toe
ORPHA:193	VPS13B	157680	HP:0000545	Myopia
ORPHA:193	VPS13B	157680	HP:0000322	Short philtrum
ORPHA:193	VPS13B	157680	HP:0006101	Finger syndactyly
ORPHA:193	VPS13B	157680	HP:0100874	Thick hair
ORPHA:193	VPS13B	157680	HP:0000294	Low anterior hairline
ORPHA:193	VPS13B	157680	HP:0001135	Chorioretinal dystrophy
ORPHA:193	VPS13B	157680	HP:0000574	Thick eyebrow
ORPHA:193	VPS13B	157680	HP:0000823	Delayed puberty
ORPHA:193	VPS13B	157680	HP:0004322	Short stature
ORPHA:193	VPS13B	157680	HP:0000212	Gingival overgrowth
ORPHA:193	VPS13B	157680	HP:0002167	Neurological speech impairment
ORPHA:193	VPS13B	157680	HP:0004209	Clinodactyly of the 5th finger
ORPHA:193	VPS13B	157680	HP:0001513	Obesity
ORPHA:193	VPS13B	157680	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:193	VPS13B	157680	HP:0001572	Macrodontia
ORPHA:193	VPS13B	157680	HP:0001511	Intrauterine growth retardation
ORPHA:193	VPS13B	157680	HP:0001612	Weak cry
ORPHA:193	VPS13B	157680	HP:0004283	Narrow palm
ORPHA:193	VPS13B	157680	HP:0000327	Hypoplasia of the maxilla
ORPHA:193	VPS13B	157680	HP:0001166	Arachnodactyly
ORPHA:193	VPS13B	157680	HP:0002857	Genu valgum
ORPHA:193	VPS13B	157680	HP:0002967	Cubitus valgus
ORPHA:193	VPS13B	157680	HP:0005692	Joint hyperflexibility
OMIM:214150	ERCC6	2074	HP:0000639	Nystagmus
OMIM:214150	ERCC6	2074	HP:0004681	Deep longitudinal plantar crease
OMIM:214150	ERCC6	2074	HP:0006380	Knee flexion contracture
OMIM:214150	ERCC6	2074	HP:0009473	Joint contracture of the hand
OMIM:214150	ERCC6	2074	HP:0000581	Blepharophimosis
OMIM:214150	ERCC6	2074	HP:0000939	Osteoporosis
OMIM:214150	ERCC6	2074	HP:0000347	Micrognathia
OMIM:214150	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
OMIM:214150	ERCC6	2074	HP:0001274	Agenesis of corpus callosum
OMIM:214150	ERCC6	2074	HP:0006610	Wide intermamillary distance
OMIM:214150	ERCC6	2074	HP:0001250	Seizures
OMIM:214150	ERCC6	2074	HP:0001321	Cerebellar hypoplasia
OMIM:214150	ERCC6	2074	HP:0002187	Intellectual disability, profound
OMIM:214150	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:214150	ERCC6	2074	HP:0000252	Microcephaly
OMIM:214150	ERCC6	2074	HP:0001007	Hirsutism
OMIM:214150	ERCC6	2074	HP:0001290	Generalized hypotonia
OMIM:214150	ERCC6	2074	HP:0002987	Elbow flexion contracture
OMIM:214150	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:214150	ERCC6	2074	HP:0002171	Gliosis
OMIM:214150	ERCC6	2074	HP:0000340	Sloping forehead
OMIM:214150	ERCC6	2074	HP:0002751	Kyphoscoliosis
OMIM:214150	ERCC6	2074	HP:0008125	Second metatarsal posteriorly placed
OMIM:214150	ERCC6	2074	HP:0002673	Coxa valga
OMIM:214150	ERCC6	2074	HP:0012448	Delayed myelination
OMIM:214150	ERCC6	2074	HP:0000233	Thin vermilion border
OMIM:214150	ERCC6	2074	HP:0000426	Prominent nasal bridge
OMIM:214150	ERCC6	2074	HP:0000343	Long philtrum
OMIM:214150	ERCC6	2074	HP:0001838	Rocker bottom foot
OMIM:214150	ERCC6	2074	HP:0012385	Camptodactyly
OMIM:214150	ERCC6	2074	HP:0003819	Death in childhood
OMIM:214150	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:214150	ERCC6	2074	HP:0000518	Cataract
OMIM:214150	ERCC6	2074	HP:0001508	Failure to thrive
OMIM:214150	ERCC6	2074	HP:0000490	Deeply set eye
OMIM:601547	CRYBB2	1415	HP:0007976	Cerulean cataract
OMIM:601547	CRYBB2	1415	HP:0010695	Sutural cataract
OMIM:601547	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:614750	DPAGT1	1798	HP:0000508	Ptosis
OMIM:614750	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:614750	DPAGT1	1798	HP:0002650	Scoliosis
OMIM:614750	DPAGT1	1798	HP:0001290	Generalized hypotonia
OMIM:614750	DPAGT1	1798	HP:0001270	Motor delay
OMIM:614750	DPAGT1	1798	HP:0000006	Autosomal dominant inheritance
OMIM:614750	DPAGT1	1798	HP:0003701	Proximal muscle weakness
OMIM:614750	DPAGT1	1798	HP:0003677	Slow progression
OMIM:606003	TALDO1	6888	HP:0001009	Telangiectasia
OMIM:606003	TALDO1	6888	HP:0000233	Thin vermilion border
OMIM:606003	TALDO1	6888	HP:0001413	Micronodular cirrhosis
OMIM:606003	TALDO1	6888	HP:0001629	Ventricular septal defect
OMIM:606003	TALDO1	6888	HP:0000325	Triangular face
OMIM:606003	TALDO1	6888	HP:0000369	Low-set ears
OMIM:606003	TALDO1	6888	HP:0001410	Decreased liver function
OMIM:606003	TALDO1	6888	HP:0001655	Patent foramen ovale
OMIM:606003	TALDO1	6888	HP:0001680	Coarctation of aorta
OMIM:606003	TALDO1	6888	HP:0001873	Thrombocytopenia
OMIM:606003	TALDO1	6888	HP:0000007	Autosomal recessive inheritance
OMIM:606003	TALDO1	6888	HP:0000322	Short philtrum
OMIM:606003	TALDO1	6888	HP:0001744	Splenomegaly
OMIM:606003	TALDO1	6888	HP:0001643	Patent ductus arteriosus
OMIM:606003	TALDO1	6888	HP:0000260	Wide anterior fontanel
OMIM:606003	TALDO1	6888	HP:0000154	Wide mouth
OMIM:606003	TALDO1	6888	HP:0005280	Depressed nasal bridge
OMIM:606003	TALDO1	6888	HP:0001395	Hepatic fibrosis
OMIM:606003	TALDO1	6888	HP:0001903	Anemia
OMIM:606003	TALDO1	6888	HP:0002002	Deep philtrum
OMIM:606003	TALDO1	6888	HP:0008665	Clitoral hypertrophy
OMIM:606003	TALDO1	6888	HP:0002240	Hepatomegaly
OMIM:606003	TALDO1	6888	HP:0001562	Oligohydramnios
OMIM:606003	TALDO1	6888	HP:0001394	Cirrhosis
OMIM:606003	TALDO1	6888	HP:0000664	Synophrys
OMIM:606003	TALDO1	6888	HP:0001508	Failure to thrive
OMIM:606003	TALDO1	6888	HP:0002099	Asthma
OMIM:606003	TALDO1	6888	HP:0001511	Intrauterine growth retardation
OMIM:606003	TALDO1	6888	HP:0002033	Poor suck
OMIM:606003	TALDO1	6888	HP:0001876	Pancytopenia
OMIM:606003	TALDO1	6888	HP:0001518	Small for gestational age
OMIM:606003	TALDO1	6888	HP:0001433	Hepatosplenomegaly
OMIM:615972	TMEM98	26022	HP:0000568	Microphthalmia
OMIM:615972	TMEM98	26022	HP:0000006	Autosomal dominant inheritance
OMIM:250250	RMRP	6023	HP:0001972	Macrocytic anemia
OMIM:250250	RMRP	6023	HP:0005374	Cellular immunodeficiency
OMIM:250250	RMRP	6023	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:250250	RMRP	6023	HP:0007464	Sparse facial hair
OMIM:250250	RMRP	6023	HP:0002286	Fair hair
OMIM:250250	RMRP	6023	HP:0003021	Metaphyseal cupping
OMIM:250250	RMRP	6023	HP:0004810	Congenital hypoplastic anemia
OMIM:250250	RMRP	6023	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
OMIM:250250	RMRP	6023	HP:0001377	Limited elbow extension
OMIM:250250	RMRP	6023	HP:0002980	Femoral bowing
OMIM:250250	RMRP	6023	HP:0001382	Joint hypermobility
OMIM:250250	RMRP	6023	HP:0000653	Sparse eyelashes
OMIM:250250	RMRP	6023	HP:0001875	Neutropenia
OMIM:250250	RMRP	6023	HP:0002650	Scoliosis
OMIM:250250	RMRP	6023	HP:0006589	Flaring of lower rib cage
OMIM:250250	RMRP	6023	HP:0008921	Neonatal short-limb short stature
OMIM:250250	RMRP	6023	HP:0002213	Fine hair
OMIM:250250	RMRP	6023	HP:0008069	Neoplasm of the skin
OMIM:250250	RMRP	6023	HP:0001888	Lymphopenia
OMIM:250250	RMRP	6023	HP:0003016	Metaphyseal widening
OMIM:250250	RMRP	6023	HP:0002938	Lumbar hyperlordosis
OMIM:250250	RMRP	6023	HP:0002251	Aganglionic megacolon
OMIM:250250	RMRP	6023	HP:0002032	Esophageal atresia
OMIM:250250	RMRP	6023	HP:0005360	Susceptibility to chickenpox
OMIM:250250	RMRP	6023	HP:0008450	Narrow vertebral interpedicular distance
OMIM:250250	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:250250	RMRP	6023	HP:0100255	Metaphyseal dysplasia
OMIM:250250	RMRP	6023	HP:0000535	Sparse and thin eyebrow
OMIM:250250	RMRP	6023	HP:0004279	Short palm
OMIM:250250	RMRP	6023	HP:0002024	Malabsorption
OMIM:206900	SOX2	6657	HP:0003316	Butterfly vertebrae
OMIM:206900	SOX2	6657	HP:0002948	Vertebral fusion
OMIM:206900	SOX2	6657	HP:0001264	Spastic diplegia
OMIM:206900	SOX2	6657	HP:0001629	Ventricular septal defect
OMIM:206900	SOX2	6657	HP:0002444	Hypothalamic hamartoma
OMIM:206900	SOX2	6657	HP:0002510	Spastic tetraplegia
OMIM:206900	SOX2	6657	HP:0000609	Optic nerve hypoplasia
OMIM:206900	SOX2	6657	HP:0000921	Missing ribs
OMIM:206900	SOX2	6657	HP:0001290	Generalized hypotonia
OMIM:206900	SOX2	6657	HP:0001328	Specific learning disability
OMIM:206900	SOX2	6657	HP:0004322	Short stature
OMIM:206900	SOX2	6657	HP:0000006	Autosomal dominant inheritance
OMIM:206900	SOX2	6657	HP:0001263	Global developmental delay
OMIM:206900	SOX2	6657	HP:0002937	Hemivertebrae
OMIM:206900	SOX2	6657	HP:0005815	Supernumerary ribs
OMIM:206900	SOX2	6657	HP:0008897	Postnatal growth retardation
OMIM:206900	SOX2	6657	HP:0002007	Frontal bossing
OMIM:206900	SOX2	6657	HP:0000528	Anophthalmia
OMIM:206900	SOX2	6657	HP:0001274	Agenesis of corpus callosum
OMIM:206900	SOX2	6657	HP:0002079	Hypoplasia of the corpus callosum
OMIM:206900	SOX2	6657	HP:0000589	Coloboma
OMIM:206900	SOX2	6657	HP:0000028	Cryptorchidism
OMIM:206900	SOX2	6657	HP:0000252	Microcephaly
OMIM:206900	SOX2	6657	HP:0000054	Micropenis
OMIM:206900	SOX2	6657	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:206900	SOX2	6657	HP:0002032	Esophageal atresia
OMIM:206900	SOX2	6657	HP:0010627	Anterior pituitary hypoplasia
OMIM:206900	SOX2	6657	HP:0000047	Hypospadias
OMIM:206900	SOX2	6657	HP:0000568	Microphthalmia
OMIM:206900	SOX2	6657	HP:0001643	Patent ductus arteriosus
OMIM:206900	SOX2	6657	HP:0000902	Rib fusion
OMIM:206900	SOX2	6657	HP:0000407	Sensorineural hearing impairment
OMIM:206900	SOX2	6657	HP:0008417	Vertebral hypoplasia
OMIM:206900	SIX6	4990	HP:0003316	Butterfly vertebrae
OMIM:206900	SIX6	4990	HP:0002948	Vertebral fusion
OMIM:206900	SIX6	4990	HP:0001264	Spastic diplegia
OMIM:206900	SIX6	4990	HP:0001629	Ventricular septal defect
OMIM:206900	SIX6	4990	HP:0002444	Hypothalamic hamartoma
OMIM:206900	SIX6	4990	HP:0002510	Spastic tetraplegia
OMIM:206900	SIX6	4990	HP:0000609	Optic nerve hypoplasia
OMIM:206900	SIX6	4990	HP:0000921	Missing ribs
OMIM:206900	SIX6	4990	HP:0001290	Generalized hypotonia
OMIM:206900	SIX6	4990	HP:0001328	Specific learning disability
OMIM:206900	SIX6	4990	HP:0004322	Short stature
OMIM:206900	SIX6	4990	HP:0000006	Autosomal dominant inheritance
OMIM:206900	SIX6	4990	HP:0001263	Global developmental delay
OMIM:206900	SIX6	4990	HP:0002937	Hemivertebrae
OMIM:206900	SIX6	4990	HP:0005815	Supernumerary ribs
OMIM:206900	SIX6	4990	HP:0008897	Postnatal growth retardation
OMIM:206900	SIX6	4990	HP:0002007	Frontal bossing
OMIM:206900	SIX6	4990	HP:0000528	Anophthalmia
OMIM:206900	SIX6	4990	HP:0001274	Agenesis of corpus callosum
OMIM:206900	SIX6	4990	HP:0002079	Hypoplasia of the corpus callosum
OMIM:206900	SIX6	4990	HP:0000589	Coloboma
OMIM:206900	SIX6	4990	HP:0000028	Cryptorchidism
OMIM:206900	SIX6	4990	HP:0000252	Microcephaly
OMIM:206900	SIX6	4990	HP:0000054	Micropenis
OMIM:206900	SIX6	4990	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:206900	SIX6	4990	HP:0002032	Esophageal atresia
OMIM:206900	SIX6	4990	HP:0010627	Anterior pituitary hypoplasia
OMIM:206900	SIX6	4990	HP:0000047	Hypospadias
OMIM:206900	SIX6	4990	HP:0000568	Microphthalmia
OMIM:206900	SIX6	4990	HP:0001643	Patent ductus arteriosus
OMIM:206900	SIX6	4990	HP:0000902	Rib fusion
OMIM:206900	SIX6	4990	HP:0000407	Sensorineural hearing impairment
OMIM:206900	SIX6	4990	HP:0008417	Vertebral hypoplasia
OMIM:270710	TBL1XR1	79718	HP:0001263	Global developmental delay
OMIM:270710	TBL1XR1	79718	HP:0012407	Scissor gait
OMIM:270710	TBL1XR1	79718	HP:0000007	Autosomal recessive inheritance
OMIM:270710	TBL1XR1	79718	HP:0000218	High palate
OMIM:270710	TBL1XR1	79718	HP:0000768	Pectus carinatum
OMIM:270710	TBL1XR1	79718	HP:0008872	Feeding difficulties in infancy
OMIM:270710	TBL1XR1	79718	HP:0010677	Enuresis nocturna
OMIM:270710	TBL1XR1	79718	HP:0000275	Narrow face
OMIM:270710	TBL1XR1	79718	HP:0004322	Short stature
OMIM:270710	TBL1XR1	79718	HP:0000272	Malar flattening
OMIM:270710	TBL1XR1	79718	HP:0004325	Decreased body weight
OMIM:270710	TBL1XR1	79718	HP:0001763	Pes planus
OMIM:270710	TBL1XR1	79718	HP:0003487	Babinski sign
OMIM:270710	TBL1XR1	79718	HP:0001156	Brachydactyly
OMIM:270710	TBL1XR1	79718	HP:0001260	Dysarthria
OMIM:270710	TBL1XR1	79718	HP:0011304	Broad thumb
OMIM:270710	TBL1XR1	79718	HP:0001611	Nasal speech
OMIM:270710	TBL1XR1	79718	HP:0007020	Progressive spastic paraplegia
OMIM:270710	TBL1XR1	79718	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:270710	TBL1XR1	79718	HP:0000767	Pectus excavatum
OMIM:270710	TBL1XR1	79718	HP:0001831	Short toe
OMIM:270710	TBL1XR1	79718	HP:0009381	Short finger
OMIM:270710	TBL1XR1	79718	HP:0009803	Short phalanx of finger
OMIM:270710	TBL1XR1	79718	HP:0010049	Short metacarpal
OMIM:270710	TBL1XR1	79718	HP:0010055	Broad hallux
OMIM:270710	TBL1XR1	79718	HP:0010743	Short metatarsal
OMIM:270710	TBL1XR1	79718	HP:0100543	Cognitive impairment
OMIM:270710	TBL1XR1	79718	HP:0001347	Hyperreflexia
OMIM:608328	FBN1	2200	HP:0001156	Brachydactyly
OMIM:608328	FBN1	2200	HP:0003416	Spinal canal stenosis
OMIM:608328	FBN1	2200	HP:0009768	Broad phalanges of the hand
OMIM:608328	FBN1	2200	HP:0000501	Glaucoma
OMIM:608328	FBN1	2200	HP:0000586	Shallow orbits
OMIM:608328	FBN1	2200	HP:0001230	Broad metacarpals
OMIM:608328	FBN1	2200	HP:0001783	Broad metatarsal
OMIM:608328	FBN1	2200	HP:0002938	Lumbar hyperlordosis
OMIM:608328	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:608328	FBN1	2200	HP:0000885	Broad ribs
OMIM:608328	FBN1	2200	HP:0000618	Blindness
OMIM:608328	FBN1	2200	HP:0003508	Proportionate short stature
OMIM:608328	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:608328	FBN1	2200	HP:0006482	Abnormality of dental morphology
OMIM:608328	FBN1	2200	HP:0001642	Pulmonic stenosis
OMIM:608328	FBN1	2200	HP:0030961	Microspherophakia
OMIM:608328	FBN1	2200	HP:0001169	Broad palm
OMIM:608328	FBN1	2200	HP:0001387	Joint stiffness
OMIM:608328	FBN1	2200	HP:0000327	Hypoplasia of the maxilla
OMIM:608328	FBN1	2200	HP:0001256	Intellectual disability, mild
OMIM:608328	FBN1	2200	HP:0002650	Scoliosis
OMIM:608328	FBN1	2200	HP:0000248	Brachycephaly
OMIM:608328	FBN1	2200	HP:0005280	Depressed nasal bridge
OMIM:608328	FBN1	2200	HP:0001629	Ventricular septal defect
OMIM:608328	FBN1	2200	HP:0000518	Cataract
OMIM:608328	FBN1	2200	HP:0000692	Misalignment of teeth
OMIM:608328	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:608328	FBN1	2200	HP:0002682	Broad skull
OMIM:608328	FBN1	2200	HP:0000594	Shallow anterior chamber
OMIM:608328	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:608328	FBN1	2200	HP:0011003	Severe Myopia
OMIM:608328	FBN1	2200	HP:0000189	Narrow palate
OMIM:608328	FBN1	2200	HP:0002753	Thin bony cortex
OMIM:608328	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:614619	GLRB	2743	HP:0001276	Hypertonia
OMIM:614619	GLRB	2743	HP:0002267	Exaggerated startle response
OMIM:614619	GLRB	2743	HP:0000007	Autosomal recessive inheritance
OMIM:610921	ABCA3	21	HP:0001425	Heterogeneous
OMIM:610921	ABCA3	21	HP:0002104	Apnea
OMIM:610921	ABCA3	21	HP:0003577	Congenital onset
OMIM:610921	ABCA3	21	HP:0002098	Respiratory distress
OMIM:610921	ABCA3	21	HP:0002878	Respiratory failure
OMIM:610921	ABCA3	21	HP:0000007	Autosomal recessive inheritance
OMIM:610921	ABCA3	21	HP:0002789	Tachypnea
OMIM:610921	ABCA3	21	HP:0001508	Failure to thrive
OMIM:610921	ABCA3	21	HP:0005942	Desquamative interstitial pneumonitis
OMIM:610921	ABCA3	21	HP:0006517	Alveolar proteinosis
OMIM:617260	ZNF148	7707	HP:0000280	Coarse facial features
OMIM:617260	ZNF148	7707	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617260	ZNF148	7707	HP:0000494	Downslanted palpebral fissures
OMIM:617260	ZNF148	7707	HP:0004322	Short stature
OMIM:617260	ZNF148	7707	HP:0009765	Low hanging columella
OMIM:617260	ZNF148	7707	HP:0001274	Agenesis of corpus callosum
OMIM:617260	ZNF148	7707	HP:0000307	Pointed chin
OMIM:617260	ZNF148	7707	HP:0000107	Renal cyst
OMIM:617260	ZNF148	7707	HP:0000377	Abnormality of the pinna
OMIM:617260	ZNF148	7707	HP:0000582	Upslanted palpebral fissure
OMIM:617260	ZNF148	7707	HP:0001263	Global developmental delay
OMIM:617260	ZNF148	7707	HP:0011968	Feeding difficulties
OMIM:617260	ZNF148	7707	HP:0001643	Patent ductus arteriosus
OMIM:617260	ZNF148	7707	HP:0002119	Ventriculomegaly
OMIM:617260	ZNF148	7707	HP:0001718	Mitral stenosis
OMIM:617260	ZNF148	7707	HP:0000252	Microcephaly
OMIM:617260	ZNF148	7707	HP:0001249	Intellectual disability
OMIM:617260	ZNF148	7707	HP:0002007	Frontal bossing
OMIM:617260	ZNF148	7707	HP:0000286	Epicanthus
OMIM:617260	ZNF148	7707	HP:0001680	Coarctation of aorta
OMIM:617260	ZNF148	7707	HP:0000154	Wide mouth
OMIM:617260	ZNF148	7707	HP:0003812	Phenotypic variability
OMIM:617260	ZNF148	7707	HP:0001290	Generalized hypotonia
OMIM:617260	ZNF148	7707	HP:0002093	Respiratory insufficiency
OMIM:617260	ZNF148	7707	HP:0001763	Pes planus
OMIM:617260	ZNF148	7707	HP:0000110	Renal dysplasia
OMIM:617260	ZNF148	7707	HP:0012745	Short palpebral fissure
OMIM:617260	ZNF148	7707	HP:0002465	Poor speech
OMIM:617260	ZNF148	7707	HP:0000506	Telecanthus
OMIM:617260	ZNF148	7707	HP:0000540	Hypermetropia
OMIM:617260	ZNF148	7707	HP:0000006	Autosomal dominant inheritance
OMIM:617260	ZNF148	7707	HP:0000319	Smooth philtrum
OMIM:617260	ZNF148	7707	HP:0001762	Talipes equinovarus
OMIM:617260	ZNF148	7707	HP:0000325	Triangular face
ORPHA:261295	BMP2	650	HP:0000272	Malar flattening
ORPHA:261295	BMP2	650	HP:0000327	Hypoplasia of the maxilla
ORPHA:261295	BMP2	650	HP:0001263	Global developmental delay
ORPHA:261295	BMP2	650	HP:0000160	Narrow mouth
ORPHA:261295	BMP2	650	HP:0000286	Epicanthus
ORPHA:261295	BMP2	650	HP:0000256	Macrocephaly
ORPHA:261295	BMP2	650	HP:0000316	Hypertelorism
ORPHA:261295	BMP2	650	HP:0000494	Downslanted palpebral fissures
ORPHA:261295	BMP2	650	HP:0001716	Wolff-Parkinson-White syndrome
ORPHA:261295	BMP2	650	HP:0004322	Short stature
OMIM:609165	KRT10	3858	HP:0001019	Erythroderma
OMIM:609165	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:609165	KRT10	3858	HP:0000972	Palmoplantar hyperkeratosis
OMIM:262300	CNGB3	54714	HP:0011003	Severe Myopia
OMIM:262300	CNGB3	54714	HP:0007641	Dyschromatopsia
OMIM:262300	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:262300	CNGB3	54714	HP:0000518	Cataract
OMIM:262300	CNGB3	54714	HP:0007803	Monochromacy
OMIM:262300	CNGB3	54714	HP:0011516	Achromatopsia
OMIM:262300	CNGB3	54714	HP:0000613	Photophobia
OMIM:262300	CNGB3	54714	HP:0007811	Horizontal pendular nystagmus
OMIM:262300	CNGB3	54714	HP:0001141	Severe visual impairment
OMIM:190351	TRPS1	7227	HP:0004279	Short palm
OMIM:190351	TRPS1	7227	HP:0000343	Long philtrum
OMIM:190351	TRPS1	7227	HP:0002805	Accelerated bone age after puberty
OMIM:190351	TRPS1	7227	HP:0010049	Short metacarpal
OMIM:190351	TRPS1	7227	HP:0000707	Abnormality of the nervous system
OMIM:190351	TRPS1	7227	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand
OMIM:190351	TRPS1	7227	HP:0000430	Underdeveloped nasal alae
OMIM:190351	TRPS1	7227	HP:0000006	Autosomal dominant inheritance
OMIM:190351	TRPS1	7227	HP:0009803	Short phalanx of finger
OMIM:190351	TRPS1	7227	HP:0004322	Short stature
OMIM:190351	TRPS1	7227	HP:0009381	Short finger
OMIM:190351	TRPS1	7227	HP:0011069	Increased number of teeth
OMIM:190351	TRPS1	7227	HP:0002650	Scoliosis
OMIM:190351	TRPS1	7227	HP:0000411	Protruding ear
OMIM:190351	TRPS1	7227	HP:0000447	Pear-shaped nose
OMIM:190351	TRPS1	7227	HP:0000678	Dental crowding
OMIM:190351	TRPS1	7227	HP:0005338	Sparse lateral eyebrow
OMIM:190351	TRPS1	7227	HP:0010743	Short metatarsal
OMIM:190351	TRPS1	7227	HP:0000219	Thin upper lip vermilion
OMIM:190351	TRPS1	7227	HP:0002750	Delayed skeletal maturation
OMIM:190351	TRPS1	7227	HP:0001773	Short foot
OMIM:190351	TRPS1	7227	HP:0008070	Sparse hair
OMIM:190351	TRPS1	7227	HP:0000938	Osteopenia
OMIM:190351	TRPS1	7227	HP:0003279	Coxa magna
OMIM:190351	TRPS1	7227	HP:0000319	Smooth philtrum
OMIM:190351	TRPS1	7227	HP:0005743	Avascular necrosis of the capital femoral epiphysis
OMIM:208050	SLC2A10	81031	HP:0001714	Ventricular hypertrophy
OMIM:208050	SLC2A10	81031	HP:0000316	Hypertelorism
OMIM:208050	SLC2A10	81031	HP:0001650	Aortic valve stenosis
OMIM:208050	SLC2A10	81031	HP:0000023	Inguinal hernia
OMIM:208050	SLC2A10	81031	HP:0002036	Hiatus hernia
OMIM:208050	SLC2A10	81031	HP:0000776	Congenital diaphragmatic hernia
OMIM:208050	SLC2A10	81031	HP:0004955	Generalized arterial tortuosity
OMIM:208050	SLC2A10	81031	HP:0001388	Joint laxity
OMIM:208050	SLC2A10	81031	HP:0000973	Cutis laxa
OMIM:208050	SLC2A10	81031	HP:0001290	Generalized hypotonia
OMIM:208050	SLC2A10	81031	HP:0006687	Aortic tortuosity
OMIM:208050	SLC2A10	81031	HP:0000218	High palate
OMIM:208050	SLC2A10	81031	HP:0004415	Pulmonary artery stenosis
OMIM:208050	SLC2A10	81031	HP:0007421	Telangiectases of the cheeks
OMIM:208050	SLC2A10	81031	HP:0001371	Flexion contracture
OMIM:208050	SLC2A10	81031	HP:0003577	Congenital onset
OMIM:208050	SLC2A10	81031	HP:0000444	Convex nasal ridge
OMIM:208050	SLC2A10	81031	HP:0000007	Autosomal recessive inheritance
OMIM:208050	SLC2A10	81031	HP:0000347	Micrognathia
OMIM:208050	SLC2A10	81031	HP:0001027	Soft, doughy skin
OMIM:208050	SLC2A10	81031	HP:0001166	Arachnodactyly
OMIM:208050	SLC2A10	81031	HP:0001537	Umbilical hernia
OMIM:208050	SLC2A10	81031	HP:0000581	Blepharophimosis
OMIM:208050	SLC2A10	81031	HP:0000822	Hypertension
OMIM:208050	SLC2A10	81031	HP:0000767	Pectus excavatum
OMIM:208050	SLC2A10	81031	HP:0001977	Abnormal thrombosis
OMIM:208050	SLC2A10	81031	HP:0000978	Bruising susceptibility
OMIM:208050	SLC2A10	81031	HP:0001659	Aortic regurgitation
OMIM:208050	SLC2A10	81031	HP:0000343	Long philtrum
OMIM:208050	SLC2A10	81031	HP:0000494	Downslanted palpebral fissures
OMIM:208050	SLC2A10	81031	HP:0000768	Pectus carinatum
OMIM:208050	SLC2A10	81031	HP:0002140	Ischemic stroke
OMIM:208050	SLC2A10	81031	HP:0000276	Long face
OMIM:207410	FGFR2	2263	HP:0000148	Vaginal atresia
OMIM:207410	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:207410	FGFR2	2263	HP:0000343	Long philtrum
OMIM:207410	FGFR2	2263	HP:0000007	Autosomal recessive inheritance
OMIM:207410	FGFR2	2263	HP:0001166	Arachnodactyly
OMIM:207410	FGFR2	2263	HP:0003275	Narrow pelvis bone
OMIM:207410	FGFR2	2263	HP:0000377	Abnormality of the pinna
OMIM:207410	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:207410	FGFR2	2263	HP:0011800	Midface retrusion
OMIM:207410	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:207410	FGFR2	2263	HP:0001631	Atrial septal defect
OMIM:207410	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:207410	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:207410	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:207410	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:207410	FGFR2	2263	HP:0003031	Ulnar bowing
OMIM:207410	FGFR2	2263	HP:0000059	Hypoplastic labia majora
OMIM:207410	FGFR2	2263	HP:0012385	Camptodactyly
OMIM:207410	FGFR2	2263	HP:0001838	Rocker bottom foot
OMIM:207410	FGFR2	2263	HP:0000063	Fused labia minora
OMIM:207410	FGFR2	2263	HP:0002781	Upper airway obstruction
OMIM:207410	FGFR2	2263	HP:0012210	Abnormal renal morphology
OMIM:207410	FGFR2	2263	HP:0000520	Proptosis
OMIM:207410	FGFR2	2263	HP:0000774	Narrow chest
OMIM:207410	FGFR2	2263	HP:0000272	Malar flattening
OMIM:207410	FGFR2	2263	HP:0002980	Femoral bowing
OMIM:207410	FGFR2	2263	HP:0000260	Wide anterior fontanel
OMIM:207410	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:207410	FGFR2	2263	HP:0000402	Stenosis of the external auditory canal
OMIM:207410	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:207410	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:207410	POR	5447	HP:0000148	Vaginal atresia
OMIM:207410	POR	5447	HP:0000453	Choanal atresia
OMIM:207410	POR	5447	HP:0000343	Long philtrum
OMIM:207410	POR	5447	HP:0000007	Autosomal recessive inheritance
OMIM:207410	POR	5447	HP:0001166	Arachnodactyly
OMIM:207410	POR	5447	HP:0003275	Narrow pelvis bone
OMIM:207410	POR	5447	HP:0000377	Abnormality of the pinna
OMIM:207410	POR	5447	HP:0002007	Frontal bossing
OMIM:207410	POR	5447	HP:0011800	Midface retrusion
OMIM:207410	POR	5447	HP:0004443	Lambdoidal craniosynostosis
OMIM:207410	POR	5447	HP:0001631	Atrial septal defect
OMIM:207410	POR	5447	HP:0000248	Brachycephaly
OMIM:207410	POR	5447	HP:0001249	Intellectual disability
OMIM:207410	POR	5447	HP:0004440	Coronal craniosynostosis
OMIM:207410	POR	5447	HP:0000452	Choanal stenosis
OMIM:207410	POR	5447	HP:0003031	Ulnar bowing
OMIM:207410	POR	5447	HP:0000059	Hypoplastic labia majora
OMIM:207410	POR	5447	HP:0012385	Camptodactyly
OMIM:207410	POR	5447	HP:0001838	Rocker bottom foot
OMIM:207410	POR	5447	HP:0000063	Fused labia minora
OMIM:207410	POR	5447	HP:0002781	Upper airway obstruction
OMIM:207410	POR	5447	HP:0012210	Abnormal renal morphology
OMIM:207410	POR	5447	HP:0000520	Proptosis
OMIM:207410	POR	5447	HP:0000774	Narrow chest
OMIM:207410	POR	5447	HP:0000272	Malar flattening
OMIM:207410	POR	5447	HP:0002980	Femoral bowing
OMIM:207410	POR	5447	HP:0000260	Wide anterior fontanel
OMIM:207410	POR	5447	HP:0003041	Humeroradial synostosis
OMIM:207410	POR	5447	HP:0000402	Stenosis of the external auditory canal
OMIM:207410	POR	5447	HP:0000238	Hydrocephalus
OMIM:207410	POR	5447	HP:0005280	Depressed nasal bridge
ORPHA:71	SAR1B	51128	HP:0003146	Hypocholesterolemia
ORPHA:71	SAR1B	51128	HP:0003270	Abdominal distention
ORPHA:71	SAR1B	51128	HP:0002013	Vomiting
ORPHA:71	SAR1B	51128	HP:0100508	Abnormality of vitamin metabolism
ORPHA:71	SAR1B	51128	HP:0002910	Elevated hepatic transaminases
ORPHA:71	SAR1B	51128	HP:0001508	Failure to thrive
ORPHA:71	SAR1B	51128	HP:0006565	Increased hepatocellular lipid droplets
ORPHA:71	SAR1B	51128	HP:0001510	Growth delay
ORPHA:71	SAR1B	51128	HP:0002570	Steatorrhea
ORPHA:71	SAR1B	51128	HP:0002014	Diarrhea
ORPHA:71	SAR1B	51128	HP:0000488	Retinopathy
OMIM:217095	GDF1	2657	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:217095	GDF1	2657	HP:0001719	Double outlet right ventricle
OMIM:217095	GDF1	2657	HP:0100259	Postaxial polydactyly
OMIM:217095	GDF1	2657	HP:0000007	Autosomal recessive inheritance
OMIM:217095	GDF1	2657	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	GDF1	2657	HP:0010055	Broad hallux
OMIM:217095	GDF1	2657	HP:0001660	Truncus arteriosus
OMIM:217095	GDF1	2657	HP:0001680	Coarctation of aorta
OMIM:217095	GATA6	2627	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	GATA6	2627	HP:0001669	Transposition of the great arteries
OMIM:217095	GATA6	2627	HP:0001719	Double outlet right ventricle
OMIM:217095	GATA6	2627	HP:0100259	Postaxial polydactyly
OMIM:217095	GATA6	2627	HP:0000007	Autosomal recessive inheritance
OMIM:217095	GATA6	2627	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	GATA6	2627	HP:0010055	Broad hallux
OMIM:217095	GATA6	2627	HP:0001660	Truncus arteriosus
OMIM:217095	GATA6	2627	HP:0001680	Coarctation of aorta
OMIM:217095	TBX1	6899	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	TBX1	6899	HP:0001669	Transposition of the great arteries
OMIM:217095	TBX1	6899	HP:0001719	Double outlet right ventricle
OMIM:217095	TBX1	6899	HP:0100259	Postaxial polydactyly
OMIM:217095	TBX1	6899	HP:0000007	Autosomal recessive inheritance
OMIM:217095	TBX1	6899	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	TBX1	6899	HP:0010055	Broad hallux
OMIM:217095	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:217095	TBX1	6899	HP:0001680	Coarctation of aorta
OMIM:217095	NKX2-6	137814	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	NKX2-6	137814	HP:0001669	Transposition of the great arteries
OMIM:217095	NKX2-6	137814	HP:0001719	Double outlet right ventricle
OMIM:217095	NKX2-6	137814	HP:0100259	Postaxial polydactyly
OMIM:217095	NKX2-6	137814	HP:0000007	Autosomal recessive inheritance
OMIM:217095	NKX2-6	137814	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	NKX2-6	137814	HP:0010055	Broad hallux
OMIM:217095	NKX2-6	137814	HP:0001660	Truncus arteriosus
OMIM:217095	NKX2-6	137814	HP:0001680	Coarctation of aorta
OMIM:217095	NKX2-5	1482	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	NKX2-5	1482	HP:0001669	Transposition of the great arteries
OMIM:217095	NKX2-5	1482	HP:0001719	Double outlet right ventricle
OMIM:217095	NKX2-5	1482	HP:0100259	Postaxial polydactyly
OMIM:217095	NKX2-5	1482	HP:0000007	Autosomal recessive inheritance
OMIM:217095	NKX2-5	1482	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	NKX2-5	1482	HP:0010055	Broad hallux
OMIM:217095	NKX2-5	1482	HP:0001660	Truncus arteriosus
OMIM:217095	NKX2-5	1482	HP:0001680	Coarctation of aorta
OMIM:217095	CFC1	55997	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:217095	CFC1	55997	HP:0001719	Double outlet right ventricle
OMIM:217095	CFC1	55997	HP:0100259	Postaxial polydactyly
OMIM:217095	CFC1	55997	HP:0000007	Autosomal recessive inheritance
OMIM:217095	CFC1	55997	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	CFC1	55997	HP:0010055	Broad hallux
OMIM:217095	CFC1	55997	HP:0001660	Truncus arteriosus
OMIM:217095	CFC1	55997	HP:0001680	Coarctation of aorta
OMIM:188050	F2	2147	HP:0001907	Thromboembolism
OMIM:188050	F2	2147	HP:0002204	Pulmonary embolism
OMIM:188050	F2	2147	HP:0002625	Deep venous thrombosis
OMIM:188050	F2	2147	HP:0011463	Childhood onset
OMIM:188050	F2	2147	HP:0000006	Autosomal dominant inheritance
OMIM:188050	F2	2147	HP:0004419	Recurrent thrombophlebitis
OMIM:188050	F2	2147	HP:0005305	Cerebral venous thrombosis
ORPHA:90674	TSHB	7252	HP:0000952	Jaundice
ORPHA:90674	TSHB	7252	HP:0002019	Constipation
ORPHA:90674	TSHB	7252	HP:0011968	Feeding difficulties
ORPHA:90674	TSHB	7252	HP:0000821	Hypothyroidism
ORPHA:90674	TSHB	7252	HP:0003270	Abdominal distention
ORPHA:90674	TSHB	7252	HP:0012378	Fatigue
ORPHA:90674	TSHB	7252	HP:0000280	Coarse facial features
ORPHA:90674	TSHB	7252	HP:0002360	Sleep disturbance
ORPHA:90674	TSHB	7252	HP:0000158	Macroglossia
ORPHA:90674	TSHB	7252	HP:0000239	Large fontanelles
ORPHA:90674	TSHB	7252	HP:0001252	Muscular hypotonia
ORPHA:90674	TSHB	7252	HP:0001537	Umbilical hernia
ORPHA:98880	FGA	2243	HP:0001386	Joint swelling
ORPHA:98880	FGA	2243	HP:0005268	Spontaneous abortion
ORPHA:98880	FGA	2243	HP:0000225	Gingival bleeding
ORPHA:98880	FGA	2243	HP:0000421	Epistaxis
ORPHA:98880	FGA	2243	HP:0400008	Menometrorrhagia
ORPHA:98880	FGB	2244	HP:0001386	Joint swelling
ORPHA:98880	FGB	2244	HP:0005268	Spontaneous abortion
ORPHA:98880	FGB	2244	HP:0000225	Gingival bleeding
ORPHA:98880	FGB	2244	HP:0000421	Epistaxis
ORPHA:98880	FGB	2244	HP:0400008	Menometrorrhagia
ORPHA:98880	FGG	2266	HP:0001386	Joint swelling
ORPHA:98880	FGG	2266	HP:0005268	Spontaneous abortion
ORPHA:98880	FGG	2266	HP:0000225	Gingival bleeding
ORPHA:98880	FGG	2266	HP:0000421	Epistaxis
ORPHA:98880	FGG	2266	HP:0400008	Menometrorrhagia
ORPHA:1525	HPGD	3248	HP:0001387	Joint stiffness
ORPHA:1525	HPGD	3248	HP:0002758	Osteoarthritis
ORPHA:1525	HPGD	3248	HP:0003103	Abnormal cortical bone morphology
ORPHA:1525	HPGD	3248	HP:0001386	Joint swelling
ORPHA:1525	HPGD	3248	HP:0001070	Mottled pigmentation
ORPHA:1525	HPGD	3248	HP:0000239	Large fontanelles
ORPHA:1525	HPGD	3248	HP:0001369	Arthritis
ORPHA:1525	HPGD	3248	HP:0002992	Abnormality of tibia morphology
ORPHA:1525	HPGD	3248	HP:0100760	Clubbing of toes
ORPHA:1525	HPGD	3248	HP:0002815	Abnormality of the knee
ORPHA:1525	HPGD	3248	HP:0002829	Arthralgia
OMIM:113750	SLC24A5	283652	HP:0001595	Abnormality of the hair
OMIM:113750	SLC24A5	283652	HP:0000007	Autosomal recessive inheritance
OMIM:113750	SLC24A5	283652	HP:0000505	Visual impairment
OMIM:113750	SLC24A5	283652	HP:0007663	Reduced visual acuity
OMIM:113750	SLC24A5	283652	HP:0000006	Autosomal dominant inheritance
OMIM:113750	SLC24A5	283652	HP:0000613	Photophobia
OMIM:113750	SLC24A5	283652	HP:0000639	Nystagmus
OMIM:616152	IMPG2	50939	HP:0000603	Central scotoma
OMIM:616152	IMPG2	50939	HP:0007754	Macular dystrophy
OMIM:616152	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:616152	IMPG2	50939	HP:0007677	Vitelliform-like macular lesions
OMIM:616152	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:616152	IMPG2	50939	HP:0030515	Moderate visual impairment
ORPHA:1425	XYLT1	64131	HP:0005616	Accelerated skeletal maturation
ORPHA:1425	XYLT1	64131	HP:0005692	Joint hyperflexibility
ORPHA:1425	XYLT1	64131	HP:0002812	Coxa vara
ORPHA:1425	XYLT1	64131	HP:0000470	Short neck
ORPHA:1425	XYLT1	64131	HP:0000501	Glaucoma
ORPHA:1425	XYLT1	64131	HP:0005280	Depressed nasal bridge
ORPHA:1425	XYLT1	64131	HP:0000499	Abnormality of the eyelashes
ORPHA:1425	XYLT1	64131	HP:0000520	Proptosis
ORPHA:1425	XYLT1	64131	HP:0001006	Hypotrichosis
ORPHA:1425	XYLT1	64131	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:1425	XYLT1	64131	HP:0001249	Intellectual disability
ORPHA:1425	XYLT1	64131	HP:0001629	Ventricular septal defect
ORPHA:1425	XYLT1	64131	HP:0000463	Anteverted nares
ORPHA:1425	XYLT1	64131	HP:0002816	Genu recurvatum
ORPHA:1425	XYLT1	64131	HP:0003042	Elbow dislocation
ORPHA:1425	XYLT1	64131	HP:0003510	Severe short stature
ORPHA:1425	XYLT1	64131	HP:0002999	Patellar dislocation
ORPHA:1425	XYLT1	64131	HP:0002673	Coxa valga
ORPHA:1425	XYLT1	64131	HP:0002974	Radioulnar synostosis
ORPHA:1425	XYLT1	64131	HP:0000592	Blue sclerae
ORPHA:1425	XYLT1	64131	HP:0008873	Disproportionate short-limb short stature
ORPHA:1425	XYLT1	64131	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1425	XYLT1	64131	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1425	XYLT1	64131	HP:0001591	Bell-shaped thorax
ORPHA:1425	XYLT1	64131	HP:0000944	Abnormality of the metaphysis
ORPHA:1425	XYLT1	64131	HP:0002650	Scoliosis
ORPHA:1425	XYLT1	64131	HP:0100490	Camptodactyly of finger
ORPHA:1425	XYLT1	64131	HP:0200055	Small hand
ORPHA:1425	CANT1	124583	HP:0005616	Accelerated skeletal maturation
ORPHA:1425	CANT1	124583	HP:0005692	Joint hyperflexibility
ORPHA:1425	CANT1	124583	HP:0002812	Coxa vara
ORPHA:1425	CANT1	124583	HP:0000470	Short neck
ORPHA:1425	CANT1	124583	HP:0000501	Glaucoma
ORPHA:1425	CANT1	124583	HP:0005280	Depressed nasal bridge
ORPHA:1425	CANT1	124583	HP:0000499	Abnormality of the eyelashes
ORPHA:1425	CANT1	124583	HP:0000520	Proptosis
ORPHA:1425	CANT1	124583	HP:0001006	Hypotrichosis
ORPHA:1425	CANT1	124583	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:1425	CANT1	124583	HP:0001249	Intellectual disability
ORPHA:1425	CANT1	124583	HP:0001629	Ventricular septal defect
ORPHA:1425	CANT1	124583	HP:0000463	Anteverted nares
ORPHA:1425	CANT1	124583	HP:0002816	Genu recurvatum
ORPHA:1425	CANT1	124583	HP:0003042	Elbow dislocation
ORPHA:1425	CANT1	124583	HP:0003510	Severe short stature
ORPHA:1425	CANT1	124583	HP:0002999	Patellar dislocation
ORPHA:1425	CANT1	124583	HP:0002673	Coxa valga
ORPHA:1425	CANT1	124583	HP:0002974	Radioulnar synostosis
ORPHA:1425	CANT1	124583	HP:0000592	Blue sclerae
ORPHA:1425	CANT1	124583	HP:0008873	Disproportionate short-limb short stature
ORPHA:1425	CANT1	124583	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1425	CANT1	124583	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1425	CANT1	124583	HP:0001591	Bell-shaped thorax
ORPHA:1425	CANT1	124583	HP:0000944	Abnormality of the metaphysis
ORPHA:1425	CANT1	124583	HP:0002650	Scoliosis
ORPHA:1425	CANT1	124583	HP:0100490	Camptodactyly of finger
ORPHA:1425	CANT1	124583	HP:0200055	Small hand
OMIM:214110	PEX5	5830	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX5	5830	HP:0000268	Dolichocephaly
OMIM:214110	PEX5	5830	HP:0001249	Intellectual disability
OMIM:214110	PEX5	5830	HP:0000239	Large fontanelles
OMIM:214110	PEX5	5830	HP:0001093	Optic nerve dysplasia
OMIM:214110	PEX5	5830	HP:0002967	Cubitus valgus
OMIM:214110	PEX5	5830	HP:0000262	Turricephaly
OMIM:214110	PEX5	5830	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX5	5830	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX5	5830	HP:0008665	Clitoral hypertrophy
OMIM:214110	PEX5	5830	HP:0000316	Hypertelorism
OMIM:214110	PEX5	5830	HP:0000286	Epicanthus
OMIM:214110	PEX5	5830	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX5	5830	HP:0002033	Poor suck
OMIM:214110	PEX5	5830	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX5	5830	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX5	5830	HP:0002104	Apnea
OMIM:214110	PEX5	5830	HP:0003819	Death in childhood
OMIM:214110	PEX5	5830	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX5	5830	HP:0001284	Areflexia
OMIM:214110	PEX5	5830	HP:0012385	Camptodactyly
OMIM:214110	PEX5	5830	HP:0100540	Palpebral edema
OMIM:214110	PEX5	5830	HP:0003355	Aminoaciduria
OMIM:214110	PEX5	5830	HP:0003455	Elevated long chain fatty acids
OMIM:214110	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:214110	PEX5	5830	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX5	5830	HP:0001088	Brushfield spots
OMIM:214110	PEX5	5830	HP:0000028	Cryptorchidism
OMIM:214110	PEX5	5830	HP:0011039	Abnormality of the helix
OMIM:214110	PEX5	5830	HP:0001840	Metatarsus adductus
OMIM:214110	PEX5	5830	HP:0001627	Abnormal heart morphology
OMIM:214110	PEX5	5830	HP:0001762	Talipes equinovarus
OMIM:214110	PEX5	5830	HP:0000175	Cleft palate
OMIM:214110	PEX5	5830	HP:0001401	Intrahepatic biliary dysgenesis
OMIM:214110	PEX5	5830	HP:0002764	Stippled chondral calcification
OMIM:214110	PEX5	5830	HP:0001290	Generalized hypotonia
OMIM:214110	PEX5	5830	HP:0000952	Jaundice
OMIM:214110	PEX5	5830	HP:0001508	Failure to thrive
OMIM:214110	PEX5	5830	HP:0001250	Seizures
OMIM:214110	PEX5	5830	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX5	5830	HP:0000518	Cataract
OMIM:214110	PEX5	5830	HP:0000348	High forehead
OMIM:180700	WNT5A	7474	HP:0000158	Macroglossia
OMIM:180700	WNT5A	7474	HP:0030084	Clinodactyly
OMIM:180700	WNT5A	7474	HP:0002750	Delayed skeletal maturation
OMIM:180700	WNT5A	7474	HP:0000637	Long palpebral fissure
OMIM:180700	WNT5A	7474	HP:0000054	Micropenis
OMIM:180700	WNT5A	7474	HP:0000219	Thin upper lip vermilion
OMIM:180700	WNT5A	7474	HP:0000272	Malar flattening
OMIM:180700	WNT5A	7474	HP:0000358	Posteriorly rotated ears
OMIM:180700	WNT5A	7474	HP:0000463	Anteverted nares
OMIM:180700	WNT5A	7474	HP:0001249	Intellectual disability
OMIM:180700	WNT5A	7474	HP:0001853	Bifid distal phalanx of toe
OMIM:180700	WNT5A	7474	HP:0000347	Micrognathia
OMIM:180700	WNT5A	7474	HP:0009466	Radial deviation of finger
OMIM:180700	WNT5A	7474	HP:0000256	Macrocephaly
OMIM:180700	WNT5A	7474	HP:0004279	Short palm
OMIM:180700	WNT5A	7474	HP:0000006	Autosomal dominant inheritance
OMIM:180700	WNT5A	7474	HP:0000060	Clitoral hypoplasia
OMIM:180700	WNT5A	7474	HP:0012368	Flat face
OMIM:180700	WNT5A	7474	HP:0000023	Inguinal hernia
OMIM:180700	WNT5A	7474	HP:0000678	Dental crowding
OMIM:180700	WNT5A	7474	HP:0001705	Right ventricular outlet obstruction
OMIM:180700	WNT5A	7474	HP:0001052	Nevus flammeus
OMIM:180700	WNT5A	7474	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180700	WNT5A	7474	HP:0000260	Wide anterior fontanel
OMIM:180700	WNT5A	7474	HP:0000520	Proptosis
OMIM:180700	WNT5A	7474	HP:0000075	Renal duplication
OMIM:180700	WNT5A	7474	HP:0001537	Umbilical hernia
OMIM:180700	WNT5A	7474	HP:0001263	Global developmental delay
OMIM:180700	WNT5A	7474	HP:0002007	Frontal bossing
OMIM:180700	WNT5A	7474	HP:0000316	Hypertelorism
OMIM:180700	WNT5A	7474	HP:0001837	Broad toe
OMIM:180700	WNT5A	7474	HP:0000059	Hypoplastic labia majora
OMIM:180700	WNT5A	7474	HP:0000494	Downslanted palpebral fissures
OMIM:180700	WNT5A	7474	HP:0000684	Delayed eruption of teeth
OMIM:180700	WNT5A	7474	HP:0009883	Duplication of the distal phalanx of hand
OMIM:180700	WNT5A	7474	HP:0000207	Triangular mouth
OMIM:180700	WNT5A	7474	HP:0000343	Long philtrum
OMIM:180700	WNT5A	7474	HP:0000126	Hydronephrosis
OMIM:180700	WNT5A	7474	HP:0010290	Short hard palate
OMIM:180700	WNT5A	7474	HP:0011800	Midface retrusion
OMIM:180700	WNT5A	7474	HP:0011304	Broad thumb
OMIM:180700	WNT5A	7474	HP:0000028	Cryptorchidism
OMIM:180700	WNT5A	7474	HP:0000212	Gingival overgrowth
OMIM:180700	WNT5A	7474	HP:0000767	Pectus excavatum
OMIM:180700	WNT5A	7474	HP:0000431	Wide nasal bridge
OMIM:180700	WNT5A	7474	HP:0003027	Mesomelia
OMIM:180700	DVL1	1855	HP:0000158	Macroglossia
OMIM:180700	DVL1	1855	HP:0030084	Clinodactyly
OMIM:180700	DVL1	1855	HP:0002750	Delayed skeletal maturation
OMIM:180700	DVL1	1855	HP:0000637	Long palpebral fissure
OMIM:180700	DVL1	1855	HP:0000054	Micropenis
OMIM:180700	DVL1	1855	HP:0000219	Thin upper lip vermilion
OMIM:180700	DVL1	1855	HP:0000272	Malar flattening
OMIM:180700	DVL1	1855	HP:0000358	Posteriorly rotated ears
OMIM:180700	DVL1	1855	HP:0000463	Anteverted nares
OMIM:180700	DVL1	1855	HP:0001249	Intellectual disability
OMIM:180700	DVL1	1855	HP:0001853	Bifid distal phalanx of toe
OMIM:180700	DVL1	1855	HP:0000347	Micrognathia
OMIM:180700	DVL1	1855	HP:0009466	Radial deviation of finger
OMIM:180700	DVL1	1855	HP:0000256	Macrocephaly
OMIM:180700	DVL1	1855	HP:0004279	Short palm
OMIM:180700	DVL1	1855	HP:0000006	Autosomal dominant inheritance
OMIM:180700	DVL1	1855	HP:0000060	Clitoral hypoplasia
OMIM:180700	DVL1	1855	HP:0012368	Flat face
OMIM:180700	DVL1	1855	HP:0000023	Inguinal hernia
OMIM:180700	DVL1	1855	HP:0000678	Dental crowding
OMIM:180700	DVL1	1855	HP:0001705	Right ventricular outlet obstruction
OMIM:180700	DVL1	1855	HP:0001052	Nevus flammeus
OMIM:180700	DVL1	1855	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180700	DVL1	1855	HP:0000260	Wide anterior fontanel
OMIM:180700	DVL1	1855	HP:0000520	Proptosis
OMIM:180700	DVL1	1855	HP:0000075	Renal duplication
OMIM:180700	DVL1	1855	HP:0001537	Umbilical hernia
OMIM:180700	DVL1	1855	HP:0001263	Global developmental delay
OMIM:180700	DVL1	1855	HP:0002007	Frontal bossing
OMIM:180700	DVL1	1855	HP:0000316	Hypertelorism
OMIM:180700	DVL1	1855	HP:0001837	Broad toe
OMIM:180700	DVL1	1855	HP:0000059	Hypoplastic labia majora
OMIM:180700	DVL1	1855	HP:0000494	Downslanted palpebral fissures
OMIM:180700	DVL1	1855	HP:0000684	Delayed eruption of teeth
OMIM:180700	DVL1	1855	HP:0009883	Duplication of the distal phalanx of hand
OMIM:180700	DVL1	1855	HP:0000207	Triangular mouth
OMIM:180700	DVL1	1855	HP:0000343	Long philtrum
OMIM:180700	DVL1	1855	HP:0000126	Hydronephrosis
OMIM:180700	DVL1	1855	HP:0010290	Short hard palate
OMIM:180700	DVL1	1855	HP:0011800	Midface retrusion
OMIM:180700	DVL1	1855	HP:0011304	Broad thumb
OMIM:180700	DVL1	1855	HP:0000028	Cryptorchidism
OMIM:180700	DVL1	1855	HP:0000212	Gingival overgrowth
OMIM:180700	DVL1	1855	HP:0000767	Pectus excavatum
OMIM:180700	DVL1	1855	HP:0000431	Wide nasal bridge
OMIM:180700	DVL1	1855	HP:0003027	Mesomelia
OMIM:615294	DRC1	92749	HP:0000246	Sinusitis
OMIM:615294	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:615294	DRC1	92749	HP:0012265	Ciliary dyskinesia
OMIM:615294	DRC1	92749	HP:0100750	Atelectasis
OMIM:615294	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615294	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615294	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:613194	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613194	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613194	BEST1	7439	HP:0012045	Retinal flecks
OMIM:613194	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613194	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613194	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613194	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:613194	BEST1	7439	HP:0000541	Retinal detachment
OMIM:613194	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:243300	ATP8B1	5205	HP:0006575	Intrahepatic cholestasis with episodic jaundice
OMIM:243300	ATP8B1	5205	HP:0000007	Autosomal recessive inheritance
OMIM:243300	ATP8B1	5205	HP:0001046	Intermittent jaundice
OMIM:243300	ATP8B1	5205	HP:0002240	Hepatomegaly
OMIM:243300	ATP8B1	5205	HP:0000989	Pruritus
OMIM:243300	ATP8B1	5205	HP:0012202	Increased serum bile acid concentration
OMIM:243300	ATP8B1	5205	HP:0000365	Hearing impairment
OMIM:243300	ATP8B1	5205	HP:0001733	Pancreatitis
OMIM:243300	ATP8B1	5205	HP:0002908	Conjugated hyperbilirubinemia
OMIM:115196	TPM1	7168	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115196	TPM1	7168	HP:0000006	Autosomal dominant inheritance
ORPHA:95494	GLI2	2736	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	GLI2	2736	HP:0002615	Hypotension
ORPHA:95494	GLI2	2736	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	GLI2	2736	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	GLI2	2736	HP:0012378	Fatigue
ORPHA:95494	GLI2	2736	HP:0040086	Abnormal prolactin level
ORPHA:95494	GLI2	2736	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	GLI2	2736	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	GLI2	2736	HP:0000789	Infertility
ORPHA:95494	GLI2	2736	HP:0000457	Depressed nasal ridge
ORPHA:95494	GLI2	2736	HP:0000938	Osteopenia
ORPHA:95494	GLI2	2736	HP:0008734	Decreased testicular size
ORPHA:95494	GLI2	2736	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	GLI2	2736	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	GLI2	2736	HP:0000141	Amenorrhea
ORPHA:95494	GLI2	2736	HP:0001943	Hypoglycemia
ORPHA:95494	HESX1	8820	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	HESX1	8820	HP:0002615	Hypotension
ORPHA:95494	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	HESX1	8820	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	HESX1	8820	HP:0012378	Fatigue
ORPHA:95494	HESX1	8820	HP:0040086	Abnormal prolactin level
ORPHA:95494	HESX1	8820	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	HESX1	8820	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	HESX1	8820	HP:0000789	Infertility
ORPHA:95494	HESX1	8820	HP:0000457	Depressed nasal ridge
ORPHA:95494	HESX1	8820	HP:0000938	Osteopenia
ORPHA:95494	HESX1	8820	HP:0008734	Decreased testicular size
ORPHA:95494	HESX1	8820	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	HESX1	8820	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	HESX1	8820	HP:0000141	Amenorrhea
ORPHA:95494	HESX1	8820	HP:0001943	Hypoglycemia
ORPHA:95494	OTX2	5015	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	OTX2	5015	HP:0002615	Hypotension
ORPHA:95494	OTX2	5015	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	OTX2	5015	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	OTX2	5015	HP:0012378	Fatigue
ORPHA:95494	OTX2	5015	HP:0040086	Abnormal prolactin level
ORPHA:95494	OTX2	5015	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	OTX2	5015	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	OTX2	5015	HP:0000789	Infertility
ORPHA:95494	OTX2	5015	HP:0000457	Depressed nasal ridge
ORPHA:95494	OTX2	5015	HP:0000938	Osteopenia
ORPHA:95494	OTX2	5015	HP:0008734	Decreased testicular size
ORPHA:95494	OTX2	5015	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	OTX2	5015	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	OTX2	5015	HP:0000141	Amenorrhea
ORPHA:95494	OTX2	5015	HP:0001943	Hypoglycemia
ORPHA:95494	POU1F1	5449	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	POU1F1	5449	HP:0002615	Hypotension
ORPHA:95494	POU1F1	5449	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	POU1F1	5449	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	POU1F1	5449	HP:0012378	Fatigue
ORPHA:95494	POU1F1	5449	HP:0040086	Abnormal prolactin level
ORPHA:95494	POU1F1	5449	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	POU1F1	5449	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	POU1F1	5449	HP:0000789	Infertility
ORPHA:95494	POU1F1	5449	HP:0000457	Depressed nasal ridge
ORPHA:95494	POU1F1	5449	HP:0000938	Osteopenia
ORPHA:95494	POU1F1	5449	HP:0008734	Decreased testicular size
ORPHA:95494	POU1F1	5449	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	POU1F1	5449	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	POU1F1	5449	HP:0000141	Amenorrhea
ORPHA:95494	POU1F1	5449	HP:0001943	Hypoglycemia
ORPHA:95494	PROP1	5626	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	PROP1	5626	HP:0002615	Hypotension
ORPHA:95494	PROP1	5626	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	PROP1	5626	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	PROP1	5626	HP:0012378	Fatigue
ORPHA:95494	PROP1	5626	HP:0040086	Abnormal prolactin level
ORPHA:95494	PROP1	5626	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	PROP1	5626	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	PROP1	5626	HP:0000789	Infertility
ORPHA:95494	PROP1	5626	HP:0000457	Depressed nasal ridge
ORPHA:95494	PROP1	5626	HP:0000938	Osteopenia
ORPHA:95494	PROP1	5626	HP:0008734	Decreased testicular size
ORPHA:95494	PROP1	5626	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	PROP1	5626	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	PROP1	5626	HP:0000141	Amenorrhea
ORPHA:95494	PROP1	5626	HP:0001943	Hypoglycemia
ORPHA:95494	LHX4	89884	HP:0010627	Anterior pituitary hypoplasia
ORPHA:95494	LHX4	89884	HP:0002615	Hypotension
ORPHA:95494	LHX4	89884	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:95494	LHX4	89884	HP:0002920	Decreased circulating ACTH level
ORPHA:95494	LHX4	89884	HP:0012378	Fatigue
ORPHA:95494	LHX4	89884	HP:0040086	Abnormal prolactin level
ORPHA:95494	LHX4	89884	HP:0008245	Pituitary hypothyroidism
ORPHA:95494	LHX4	89884	HP:0010626	Anterior pituitary agenesis
ORPHA:95494	LHX4	89884	HP:0000789	Infertility
ORPHA:95494	LHX4	89884	HP:0000457	Depressed nasal ridge
ORPHA:95494	LHX4	89884	HP:0000938	Osteopenia
ORPHA:95494	LHX4	89884	HP:0008734	Decreased testicular size
ORPHA:95494	LHX4	89884	HP:0009888	Abnormality of secondary sexual hair
ORPHA:95494	LHX4	89884	HP:0010311	Aplasia/Hypoplasia of the breasts
ORPHA:95494	LHX4	89884	HP:0000141	Amenorrhea
ORPHA:95494	LHX4	89884	HP:0001943	Hypoglycemia
OMIM:615937	AKT3	10000	HP:0000974	Hyperextensible skin
OMIM:615937	AKT3	10000	HP:0000965	Cutis marmorata
OMIM:615937	AKT3	10000	HP:0000238	Hydrocephalus
OMIM:615937	AKT3	10000	HP:0007206	Hemimegalencephaly
OMIM:615937	AKT3	10000	HP:0002126	Polymicrogyria
OMIM:615937	AKT3	10000	HP:0001249	Intellectual disability
OMIM:615937	AKT3	10000	HP:0000006	Autosomal dominant inheritance
OMIM:615937	AKT3	10000	HP:0000256	Macrocephaly
OMIM:615937	AKT3	10000	HP:0001162	Postaxial hand polydactyly
OMIM:615937	AKT3	10000	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615937	AKT3	10000	HP:0002119	Ventriculomegaly
OMIM:613837	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613837	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:613837	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:605432	HOXA11	3207	HP:0002827	Hip dislocation
OMIM:605432	HOXA11	3207	HP:0001905	Congenital thrombocytopenia
OMIM:605432	HOXA11	3207	HP:0004209	Clinodactyly of the 5th finger
OMIM:605432	HOXA11	3207	HP:0000407	Sensorineural hearing impairment
OMIM:605432	HOXA11	3207	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:605432	HOXA11	3207	HP:0000967	Petechiae
OMIM:605432	HOXA11	3207	HP:0006394	Limited pronation/supination of forearm
OMIM:605432	HOXA11	3207	HP:0005548	Megakaryocytopenia
OMIM:605432	HOXA11	3207	HP:0003031	Ulnar bowing
OMIM:605432	HOXA11	3207	HP:0002986	Radial bowing
OMIM:605432	HOXA11	3207	HP:0001915	Aplastic anemia
OMIM:605432	HOXA11	3207	HP:0000006	Autosomal dominant inheritance
OMIM:605432	HOXA11	3207	HP:0003182	Shallow acetabular fossae
OMIM:605432	HOXA11	3207	HP:0001159	Syndactyly
OMIM:605432	HOXA11	3207	HP:0005037	Proximal radio-ulnar synostosis
ORPHA:763	CTSK	1513	HP:0002653	Bone pain
ORPHA:763	CTSK	1513	HP:0001231	Abnormality of the fingernails
ORPHA:763	CTSK	1513	HP:0002645	Wormian bones
ORPHA:763	CTSK	1513	HP:0002007	Frontal bossing
ORPHA:763	CTSK	1513	HP:0002652	Skeletal dysplasia
ORPHA:763	CTSK	1513	HP:0000592	Blue sclerae
ORPHA:763	CTSK	1513	HP:0009106	Abnormal pelvis bone ossification
ORPHA:763	CTSK	1513	HP:0000272	Malar flattening
ORPHA:763	CTSK	1513	HP:0000248	Brachycephaly
ORPHA:763	CTSK	1513	HP:0000189	Narrow palate
ORPHA:763	CTSK	1513	HP:0001156	Brachydactyly
ORPHA:763	CTSK	1513	HP:0001807	Ridged nail
ORPHA:763	CTSK	1513	HP:0004322	Short stature
ORPHA:763	CTSK	1513	HP:0004474	Persistent open anterior fontanelle
ORPHA:763	CTSK	1513	HP:0001831	Short toe
ORPHA:763	CTSK	1513	HP:0002797	Osteolysis
ORPHA:763	CTSK	1513	HP:0003468	Abnormal vertebral morphology
ORPHA:763	CTSK	1513	HP:0000348	High forehead
ORPHA:763	CTSK	1513	HP:0000684	Delayed eruption of teeth
ORPHA:763	CTSK	1513	HP:0006482	Abnormality of dental morphology
ORPHA:763	CTSK	1513	HP:0011800	Midface retrusion
ORPHA:763	CTSK	1513	HP:0000520	Proptosis
ORPHA:763	CTSK	1513	HP:0002757	Recurrent fractures
ORPHA:763	CTSK	1513	HP:0005930	Abnormality of epiphysis morphology
ORPHA:763	CTSK	1513	HP:0009882	Short distal phalanx of finger
ORPHA:763	CTSK	1513	HP:0000889	Abnormality of the clavicle
OMIM:245400	SUCLG1	8802	HP:0001251	Ataxia
OMIM:245400	SUCLG1	8802	HP:0008335	Renal aminoaciduria
OMIM:245400	SUCLG1	8802	HP:0010864	Intellectual disability, severe
OMIM:245400	SUCLG1	8802	HP:0003202	Skeletal muscle atrophy
OMIM:245400	SUCLG1	8802	HP:0001943	Hypoglycemia
OMIM:245400	SUCLG1	8802	HP:0002059	Cerebral atrophy
OMIM:245400	SUCLG1	8802	HP:0002878	Respiratory failure
OMIM:245400	SUCLG1	8802	HP:0002148	Hypophosphatemia
OMIM:245400	SUCLG1	8802	HP:0000007	Autosomal recessive inheritance
OMIM:245400	SUCLG1	8802	HP:0001508	Failure to thrive
OMIM:245400	SUCLG1	8802	HP:0000975	Hyperhidrosis
OMIM:245400	SUCLG1	8802	HP:0001510	Growth delay
OMIM:245400	SUCLG1	8802	HP:0001298	Encephalopathy
OMIM:245400	SUCLG1	8802	HP:0001252	Muscular hypotonia
OMIM:245400	SUCLG1	8802	HP:0005941	Intermittent hyperpnea at rest
OMIM:245400	SUCLG1	8802	HP:0002275	Poor motor coordination
OMIM:245400	SUCLG1	8802	HP:0003128	Lactic acidosis
OMIM:245400	SUCLG1	8802	HP:0001263	Global developmental delay
OMIM:245400	SUCLG1	8802	HP:0001250	Seizures
OMIM:245400	SUCLG1	8802	HP:0012120	Methylmalonic aciduria
OMIM:245400	SUCLG1	8802	HP:0011968	Feeding difficulties
OMIM:245400	SUCLG1	8802	HP:0000951	Abnormality of the skin
OMIM:245400	SUCLG1	8802	HP:0002317	Unsteady gait
OMIM:245400	SUCLG1	8802	HP:0003593	Infantile onset
OMIM:245400	SUCLG1	8802	HP:0003812	Phenotypic variability
OMIM:616829	TMEM199	147007	HP:0000007	Autosomal recessive inheritance
OMIM:616829	TMEM199	147007	HP:0010837	Decreased serum ceruloplasmin
OMIM:616829	TMEM199	147007	HP:0001410	Decreased liver function
OMIM:241550	GJA1	2697	HP:0004383	Hypoplastic left heart
OMIM:302060	TAZ	6901	HP:0001510	Growth delay
OMIM:302060	TAZ	6901	HP:0001270	Motor delay
OMIM:302060	TAZ	6901	HP:0001508	Failure to thrive
OMIM:302060	TAZ	6901	HP:0001419	X-linked recessive inheritance
OMIM:302060	TAZ	6901	HP:0012378	Fatigue
OMIM:302060	TAZ	6901	HP:0001913	Granulocytopenia
OMIM:302060	TAZ	6901	HP:0000293	Full cheeks
OMIM:302060	TAZ	6901	HP:0003546	Exercise intolerance
OMIM:302060	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:302060	TAZ	6901	HP:0000490	Deeply set eye
OMIM:302060	TAZ	6901	HP:0001639	Hypertrophic cardiomyopathy
OMIM:302060	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:302060	TAZ	6901	HP:0011675	Arrhythmia
OMIM:302060	TAZ	6901	HP:0001288	Gait disturbance
OMIM:302060	TAZ	6901	HP:0002058	Myopathic facies
OMIM:302060	TAZ	6901	HP:0003535	3-Methylglutaconic aciduria
OMIM:302060	TAZ	6901	HP:0000303	Mandibular prognathia
OMIM:302060	TAZ	6901	HP:0003756	Skeletal myopathy
OMIM:302060	TAZ	6901	HP:0004913	Intermittent lactic acidemia
OMIM:302060	TAZ	6901	HP:0000311	Round face
OMIM:302060	TAZ	6901	HP:0001706	Endocardial fibroelastosis
OMIM:302060	TAZ	6901	HP:0005437	Recurrent infections in infancy and early childhood
OMIM:302060	TAZ	6901	HP:0000400	Macrotia
OMIM:302060	TAZ	6901	HP:0008322	Abnormal mitochondrial morphology
ORPHA:391411	SYNJ1	8867	HP:0002063	Rigidity
ORPHA:391411	SYNJ1	8867	HP:0002540	Inability to walk
ORPHA:391411	SYNJ1	8867	HP:0001250	Seizures
ORPHA:391411	SYNJ1	8867	HP:0012378	Fatigue
ORPHA:391411	SYNJ1	8867	HP:0002322	Resting tremor
ORPHA:391411	SYNJ1	8867	HP:0001621	Weak voice
ORPHA:391411	SYNJ1	8867	HP:0002650	Scoliosis
ORPHA:391411	SYNJ1	8867	HP:0007311	Short stepped shuffling gait
ORPHA:391411	SYNJ1	8867	HP:0012444	Brain atrophy
ORPHA:391411	SYNJ1	8867	HP:0001332	Dystonia
ORPHA:391411	SYNJ1	8867	HP:0007164	Slowed slurred speech
ORPHA:391411	SYNJ1	8867	HP:0002172	Postural instability
ORPHA:391411	SYNJ1	8867	HP:0002304	Akinesia
ORPHA:391411	SYNJ1	8867	HP:0001265	Hyporeflexia
ORPHA:391411	SYNJ1	8867	HP:0007256	Abnormal pyramidal signs
ORPHA:391411	SYNJ1	8867	HP:0001249	Intellectual disability
ORPHA:391411	SYNJ1	8867	HP:0002066	Gait ataxia
ORPHA:391411	SYNJ1	8867	HP:0008969	Leg muscle stiffness
ORPHA:391411	SYNJ1	8867	HP:0001761	Pes cavus
ORPHA:391411	SYNJ1	8867	HP:0000338	Hypomimic face
ORPHA:391411	SYNJ1	8867	HP:0002067	Bradykinesia
ORPHA:391411	DNAJC6	9829	HP:0002063	Rigidity
ORPHA:391411	DNAJC6	9829	HP:0002540	Inability to walk
ORPHA:391411	DNAJC6	9829	HP:0001250	Seizures
ORPHA:391411	DNAJC6	9829	HP:0012378	Fatigue
ORPHA:391411	DNAJC6	9829	HP:0002322	Resting tremor
ORPHA:391411	DNAJC6	9829	HP:0001621	Weak voice
ORPHA:391411	DNAJC6	9829	HP:0002650	Scoliosis
ORPHA:391411	DNAJC6	9829	HP:0007311	Short stepped shuffling gait
ORPHA:391411	DNAJC6	9829	HP:0012444	Brain atrophy
ORPHA:391411	DNAJC6	9829	HP:0001332	Dystonia
ORPHA:391411	DNAJC6	9829	HP:0007164	Slowed slurred speech
ORPHA:391411	DNAJC6	9829	HP:0002172	Postural instability
ORPHA:391411	DNAJC6	9829	HP:0002304	Akinesia
ORPHA:391411	DNAJC6	9829	HP:0001265	Hyporeflexia
ORPHA:391411	DNAJC6	9829	HP:0007256	Abnormal pyramidal signs
ORPHA:391411	DNAJC6	9829	HP:0001249	Intellectual disability
ORPHA:391411	DNAJC6	9829	HP:0002066	Gait ataxia
ORPHA:391411	DNAJC6	9829	HP:0008969	Leg muscle stiffness
ORPHA:391411	DNAJC6	9829	HP:0001761	Pes cavus
ORPHA:391411	DNAJC6	9829	HP:0000338	Hypomimic face
ORPHA:391411	DNAJC6	9829	HP:0002067	Bradykinesia
OMIM:601868	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601868	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:241200	KCNJ1	3758	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia
OMIM:241200	KCNJ1	3758	HP:0001090	Large eyes
OMIM:241200	KCNJ1	3758	HP:0002632	Low-to-normal blood pressure
OMIM:241200	KCNJ1	3758	HP:0001561	Polyhydramnios
OMIM:241200	KCNJ1	3758	HP:0001960	Hypokalemic metabolic alkalosis
OMIM:241200	KCNJ1	3758	HP:0001622	Premature birth
OMIM:241200	KCNJ1	3758	HP:0000007	Autosomal recessive inheritance
OMIM:241200	KCNJ1	3758	HP:0000400	Macrotia
OMIM:241200	KCNJ1	3758	HP:0001508	Failure to thrive
OMIM:241200	KCNJ1	3758	HP:0003113	Hypochloremia
OMIM:241200	KCNJ1	3758	HP:0003401	Paresthesia
OMIM:241200	KCNJ1	3758	HP:0002900	Hypokalemia
OMIM:241200	KCNJ1	3758	HP:0004322	Short stature
OMIM:241200	KCNJ1	3758	HP:0003527	Hyperprostaglandinuria
OMIM:241200	KCNJ1	3758	HP:0000841	Hyperactive renin-angiotensin system
OMIM:241200	KCNJ1	3758	HP:0000127	Renal salt wasting
OMIM:241200	KCNJ1	3758	HP:0000256	Macrocephaly
OMIM:241200	KCNJ1	3758	HP:0002007	Frontal bossing
OMIM:241200	KCNJ1	3758	HP:0002150	Hypercalciuria
OMIM:241200	KCNJ1	3758	HP:0002914	Hyperchloriduria
OMIM:241200	KCNJ1	3758	HP:0003394	Muscle cramps
OMIM:241200	KCNJ1	3758	HP:0000128	Renal potassium wasting
OMIM:241200	KCNJ1	3758	HP:0001250	Seizures
OMIM:241200	KCNJ1	3758	HP:0003158	Hyposthenuria
OMIM:241200	KCNJ1	3758	HP:0003566	Increased serum prostaglandin E2
OMIM:241200	KCNJ1	3758	HP:0000934	Chondrocalcinosis
OMIM:241200	KCNJ1	3758	HP:0002019	Constipation
OMIM:241200	KCNJ1	3758	HP:0001263	Global developmental delay
OMIM:241200	KCNJ1	3758	HP:0001945	Fever
OMIM:241200	KCNJ1	3758	HP:0003081	Increased urinary potassium
OMIM:241200	KCNJ1	3758	HP:0001249	Intellectual disability
OMIM:241200	KCNJ1	3758	HP:0002014	Diarrhea
OMIM:241200	KCNJ1	3758	HP:0000103	Polyuria
OMIM:241200	KCNJ1	3758	HP:0001518	Small for gestational age
OMIM:241200	KCNJ1	3758	HP:0000859	Hyperaldosteronism
OMIM:241200	KCNJ1	3758	HP:0001281	Tetany
OMIM:241200	KCNJ1	3758	HP:0001425	Heterogeneous
OMIM:241200	KCNJ1	3758	HP:0000121	Nephrocalcinosis
OMIM:241200	KCNJ1	3758	HP:0011220	Prominent forehead
OMIM:241200	KCNJ1	3758	HP:0002013	Vomiting
OMIM:241200	KCNJ1	3758	HP:0001959	Polydipsia
OMIM:241200	KCNJ1	3758	HP:0003540	Impaired platelet aggregation
OMIM:241200	KCNJ1	3758	HP:0000325	Triangular face
OMIM:241200	KCNJ1	3758	HP:0001563	Fetal polyuria
OMIM:241200	KCNJ1	3758	HP:0001944	Dehydration
OMIM:241200	KCNJ1	3758	HP:0000848	Increased circulating renin level
OMIM:241200	KCNJ1	3758	HP:0000938	Osteopenia
OMIM:241200	KCNJ1	3758	HP:0003324	Generalized muscle weakness
OMIM:613762	MAP3K1	4214	HP:0000006	Autosomal dominant inheritance
OMIM:613762	MAP3K1	4214	HP:0100621	Dysgerminoma
OMIM:613762	MAP3K1	4214	HP:0000150	Gonadoblastoma
OMIM:613762	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:613762	MAP3K1	4214	HP:0002215	Sparse axillary hair
OMIM:613762	MAP3K1	4214	HP:0000041	Chordee
ORPHA:2995	ACTG1	71	HP:0000280	Coarse facial features
ORPHA:2995	ACTG1	71	HP:0000506	Telecanthus
ORPHA:2995	ACTG1	71	HP:0005487	Prominent metopic ridge
ORPHA:2995	ACTG1	71	HP:0030502	Retinoschisis
ORPHA:2995	ACTG1	71	HP:0000126	Hydronephrosis
ORPHA:2995	ACTG1	71	HP:0000431	Wide nasal bridge
ORPHA:2995	ACTG1	71	HP:0000072	Hydroureter
ORPHA:2995	ACTG1	71	HP:0002381	Aphasia
ORPHA:2995	ACTG1	71	HP:0011968	Feeding difficulties
ORPHA:2995	ACTG1	71	HP:0001249	Intellectual disability
ORPHA:2995	ACTG1	71	HP:0002652	Skeletal dysplasia
ORPHA:2995	ACTG1	71	HP:0000154	Wide mouth
ORPHA:2995	ACTG1	71	HP:0001250	Seizures
ORPHA:2995	ACTG1	71	HP:0002357	Dysphasia
ORPHA:2995	ACTG1	71	HP:0000494	Downslanted palpebral fissures
ORPHA:2995	ACTG1	71	HP:0000239	Large fontanelles
ORPHA:2995	ACTG1	71	HP:0000316	Hypertelorism
ORPHA:2995	ACTG1	71	HP:0010529	Echolalia
ORPHA:2995	ACTG1	71	HP:0000437	Depressed nasal tip
ORPHA:2995	ACTG1	71	HP:0001263	Global developmental delay
ORPHA:2995	ACTG1	71	HP:0001328	Specific learning disability
ORPHA:2995	ACTG1	71	HP:0040188	Osteochondrosis
ORPHA:2995	ACTG1	71	HP:0000286	Epicanthus
ORPHA:2995	ACTG1	71	HP:0000343	Long philtrum
ORPHA:2995	ACTG1	71	HP:0002553	Highly arched eyebrow
ORPHA:2995	ACTG1	71	HP:0007227	Macrogyria
ORPHA:2995	ACTG1	71	HP:0000278	Retrognathia
ORPHA:2995	ACTG1	71	HP:0100308	Cerebral cortical hemiatrophy
ORPHA:2995	ACTG1	71	HP:0000307	Pointed chin
ORPHA:2995	ACTG1	71	HP:0001510	Growth delay
ORPHA:2995	ACTG1	71	HP:0002000	Short columella
ORPHA:2995	ACTG1	71	HP:0000508	Ptosis
ORPHA:2995	ACTG1	71	HP:0002126	Polymicrogyria
ORPHA:2995	ACTG1	71	HP:0012905	Euryblepharon
ORPHA:2995	ACTG1	71	HP:0000233	Thin vermilion border
ORPHA:2995	ACTG1	71	HP:0000448	Prominent nose
ORPHA:2995	ACTG1	71	HP:0000243	Trigonocephaly
ORPHA:2995	ACTG1	71	HP:0000612	Iris coloboma
ORPHA:2995	ACTG1	71	HP:0002300	Mutism
ORPHA:2995	ACTG1	71	HP:0000637	Long palpebral fissure
ORPHA:2995	ACTG1	71	HP:0003189	Long nose
ORPHA:2995	ACTG1	71	HP:0000270	Delayed cranial suture closure
ORPHA:2995	ACTG1	71	HP:0001302	Pachygyria
ORPHA:2995	ACTG1	71	HP:0000470	Short neck
ORPHA:2995	ACTG1	71	HP:0000293	Full cheeks
ORPHA:2995	ACTG1	71	HP:0000445	Wide nose
ORPHA:2995	ACTG1	71	HP:0012157	Subcortical cerebral atrophy
ORPHA:2995	ACTG1	71	HP:0001339	Lissencephaly
ORPHA:2995	ACTG1	71	HP:0001387	Joint stiffness
ORPHA:2995	ACTG1	71	HP:0000252	Microcephaly
ORPHA:2995	ACTG1	71	HP:0001100	Heterochromia iridis
ORPHA:2995	ACTG1	71	HP:0002162	Low posterior hairline
ORPHA:2995	ACTG1	71	HP:0000347	Micrognathia
ORPHA:2995	ACTG1	71	HP:0001508	Failure to thrive
ORPHA:2995	ACTB	60	HP:0000280	Coarse facial features
ORPHA:2995	ACTB	60	HP:0000506	Telecanthus
ORPHA:2995	ACTB	60	HP:0005487	Prominent metopic ridge
ORPHA:2995	ACTB	60	HP:0030502	Retinoschisis
ORPHA:2995	ACTB	60	HP:0000126	Hydronephrosis
ORPHA:2995	ACTB	60	HP:0000431	Wide nasal bridge
ORPHA:2995	ACTB	60	HP:0000072	Hydroureter
ORPHA:2995	ACTB	60	HP:0002381	Aphasia
ORPHA:2995	ACTB	60	HP:0011968	Feeding difficulties
ORPHA:2995	ACTB	60	HP:0001249	Intellectual disability
ORPHA:2995	ACTB	60	HP:0002652	Skeletal dysplasia
ORPHA:2995	ACTB	60	HP:0000154	Wide mouth
ORPHA:2995	ACTB	60	HP:0001250	Seizures
ORPHA:2995	ACTB	60	HP:0002357	Dysphasia
ORPHA:2995	ACTB	60	HP:0000494	Downslanted palpebral fissures
ORPHA:2995	ACTB	60	HP:0000239	Large fontanelles
ORPHA:2995	ACTB	60	HP:0000316	Hypertelorism
ORPHA:2995	ACTB	60	HP:0010529	Echolalia
ORPHA:2995	ACTB	60	HP:0000437	Depressed nasal tip
ORPHA:2995	ACTB	60	HP:0001263	Global developmental delay
ORPHA:2995	ACTB	60	HP:0001328	Specific learning disability
ORPHA:2995	ACTB	60	HP:0040188	Osteochondrosis
ORPHA:2995	ACTB	60	HP:0000286	Epicanthus
ORPHA:2995	ACTB	60	HP:0000343	Long philtrum
ORPHA:2995	ACTB	60	HP:0002553	Highly arched eyebrow
ORPHA:2995	ACTB	60	HP:0007227	Macrogyria
ORPHA:2995	ACTB	60	HP:0000278	Retrognathia
ORPHA:2995	ACTB	60	HP:0100308	Cerebral cortical hemiatrophy
ORPHA:2995	ACTB	60	HP:0000307	Pointed chin
ORPHA:2995	ACTB	60	HP:0001510	Growth delay
ORPHA:2995	ACTB	60	HP:0002000	Short columella
ORPHA:2995	ACTB	60	HP:0000508	Ptosis
ORPHA:2995	ACTB	60	HP:0002126	Polymicrogyria
ORPHA:2995	ACTB	60	HP:0012905	Euryblepharon
ORPHA:2995	ACTB	60	HP:0000233	Thin vermilion border
ORPHA:2995	ACTB	60	HP:0000448	Prominent nose
ORPHA:2995	ACTB	60	HP:0000243	Trigonocephaly
ORPHA:2995	ACTB	60	HP:0000612	Iris coloboma
ORPHA:2995	ACTB	60	HP:0002300	Mutism
ORPHA:2995	ACTB	60	HP:0000637	Long palpebral fissure
ORPHA:2995	ACTB	60	HP:0003189	Long nose
ORPHA:2995	ACTB	60	HP:0000270	Delayed cranial suture closure
ORPHA:2995	ACTB	60	HP:0001302	Pachygyria
ORPHA:2995	ACTB	60	HP:0000470	Short neck
ORPHA:2995	ACTB	60	HP:0000293	Full cheeks
ORPHA:2995	ACTB	60	HP:0000445	Wide nose
ORPHA:2995	ACTB	60	HP:0012157	Subcortical cerebral atrophy
ORPHA:2995	ACTB	60	HP:0001339	Lissencephaly
ORPHA:2995	ACTB	60	HP:0001387	Joint stiffness
ORPHA:2995	ACTB	60	HP:0000252	Microcephaly
ORPHA:2995	ACTB	60	HP:0001100	Heterochromia iridis
ORPHA:2995	ACTB	60	HP:0002162	Low posterior hairline
ORPHA:2995	ACTB	60	HP:0000347	Micrognathia
ORPHA:2995	ACTB	60	HP:0001508	Failure to thrive
OMIM:617164	ARCN1	372	HP:0000483	Astigmatism
OMIM:617164	ARCN1	372	HP:0001508	Failure to thrive
OMIM:617164	ARCN1	372	HP:0000046	Scrotal hypoplasia
OMIM:617164	ARCN1	372	HP:0030799	Scaphocephaly
OMIM:617164	ARCN1	372	HP:0001249	Intellectual disability
OMIM:617164	ARCN1	372	HP:0000054	Micropenis
OMIM:617164	ARCN1	372	HP:0008905	Rhizomelia
OMIM:617164	ARCN1	372	HP:0002066	Gait ataxia
OMIM:617164	ARCN1	372	HP:0000047	Hypospadias
OMIM:617164	ARCN1	372	HP:0000545	Myopia
OMIM:617164	ARCN1	372	HP:0001629	Ventricular septal defect
OMIM:617164	ARCN1	372	HP:0002870	Obstructive sleep apnea
OMIM:617164	ARCN1	372	HP:0000006	Autosomal dominant inheritance
OMIM:617164	ARCN1	372	HP:0000278	Retrognathia
OMIM:617164	ARCN1	372	HP:0000347	Micrognathia
OMIM:617164	ARCN1	372	HP:0000252	Microcephaly
OMIM:617164	ARCN1	372	HP:0001270	Motor delay
OMIM:617164	ARCN1	372	HP:0000218	High palate
OMIM:617164	ARCN1	372	HP:0004691	2-3 toe syndactyly
OMIM:617164	ARCN1	372	HP:0003016	Metaphyseal widening
OMIM:617164	ARCN1	372	HP:0002673	Coxa valga
OMIM:617164	ARCN1	372	HP:0000175	Cleft palate
OMIM:617164	ARCN1	372	HP:0000601	Hypotelorism
OMIM:617164	ARCN1	372	HP:0001250	Seizures
OMIM:617164	ARCN1	372	HP:0001511	Intrauterine growth retardation
OMIM:617164	ARCN1	372	HP:0005616	Accelerated skeletal maturation
OMIM:614654	COQ9	57017	HP:0001272	Cerebellar atrophy
OMIM:614654	COQ9	57017	HP:0002151	Increased serum lactate
OMIM:614654	COQ9	57017	HP:0001511	Intrauterine growth retardation
OMIM:614654	COQ9	57017	HP:0001662	Bradycardia
OMIM:614654	COQ9	57017	HP:0001298	Encephalopathy
OMIM:614654	COQ9	57017	HP:0001712	Left ventricular hypertrophy
OMIM:614654	COQ9	57017	HP:0011968	Feeding difficulties
OMIM:614654	COQ9	57017	HP:0001332	Dystonia
OMIM:614654	COQ9	57017	HP:0005484	Postnatal microcephaly
OMIM:614654	COQ9	57017	HP:0002059	Cerebral atrophy
OMIM:614654	COQ9	57017	HP:0002093	Respiratory insufficiency
OMIM:614654	COQ9	57017	HP:0000007	Autosomal recessive inheritance
OMIM:614654	COQ9	57017	HP:0001347	Hyperreflexia
OMIM:614654	COQ9	57017	HP:0003128	Lactic acidosis
OMIM:614654	COQ9	57017	HP:0001263	Global developmental delay
OMIM:614654	COQ9	57017	HP:0001612	Weak cry
OMIM:614654	COQ9	57017	HP:0001250	Seizures
OMIM:614654	COQ9	57017	HP:0001290	Generalized hypotonia
OMIM:614654	COQ9	57017	HP:0003348	Hyperalaninemia
OMIM:154020	FXYD2	486	HP:0003324	Generalized muscle weakness
OMIM:154020	FXYD2	486	HP:0000934	Chondrocalcinosis
OMIM:154020	FXYD2	486	HP:0002917	Hypomagnesemia
OMIM:154020	FXYD2	486	HP:0003127	Hypocalciuria
OMIM:154020	FXYD2	486	HP:0000006	Autosomal dominant inheritance
OMIM:154020	FXYD2	486	HP:0002900	Hypokalemia
OMIM:154020	FXYD2	486	HP:0001250	Seizures
OMIM:154020	FXYD2	486	HP:0005567	Renal magnesium wasting
OMIM:606324	PARK7	11315	HP:0002322	Resting tremor
OMIM:606324	PARK7	11315	HP:0000739	Anxiety
OMIM:606324	PARK7	11315	HP:0002063	Rigidity
OMIM:606324	PARK7	11315	HP:0003677	Slow progression
OMIM:606324	PARK7	11315	HP:0000643	Blepharospasm
OMIM:606324	PARK7	11315	HP:0002067	Bradykinesia
OMIM:606324	PARK7	11315	HP:0002174	Postural tremor
OMIM:606324	PARK7	11315	HP:0000725	Psychotic episodes
OMIM:606324	PARK7	11315	HP:0003581	Adult onset
OMIM:606324	PARK7	11315	HP:0000007	Autosomal recessive inheritance
OMIM:258450	POLG	5428	HP:0000712	Emotional lability
OMIM:258450	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:258450	POLG	5428	HP:0001284	Areflexia
OMIM:258450	POLG	5428	HP:0003700	Generalized amyotrophy
OMIM:258450	POLG	5428	HP:0003688	Cytochrome C oxidase-negative muscle fibers
OMIM:258450	POLG	5428	HP:0003701	Proximal muscle weakness
OMIM:258450	POLG	5428	HP:0001300	Parkinsonism
OMIM:258450	POLG	5428	HP:0000590	Progressive external ophthalmoplegia
OMIM:258450	POLG	5428	HP:0000716	Depressivity
OMIM:258450	POLG	5428	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
OMIM:258450	POLG	5428	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:258450	POLG	5428	HP:0003434	Sensory ataxic neuropathy
OMIM:258450	POLG	5428	HP:0001761	Pes cavus
OMIM:258450	POLG	5428	HP:0002015	Dysphagia
OMIM:258450	POLG	5428	HP:0003812	Phenotypic variability
OMIM:258450	POLG	5428	HP:0006858	Impaired distal proprioception
OMIM:258450	POLG	5428	HP:0003546	Exercise intolerance
OMIM:258450	POLG	5428	HP:0003557	Increased variability in muscle fiber diameter
OMIM:258450	POLG	5428	HP:0002070	Limb ataxia
OMIM:258450	POLG	5428	HP:0001265	Hyporeflexia
OMIM:258450	POLG	5428	HP:0003200	Ragged-red muscle fibers
OMIM:258450	POLG	5428	HP:0003376	Steppage gait
OMIM:258450	POLG	5428	HP:0003737	Mitochondrial myopathy
OMIM:258450	POLG	5428	HP:0002066	Gait ataxia
OMIM:258450	POLG	5428	HP:0002063	Rigidity
OMIM:258450	POLG	5428	HP:0002460	Distal muscle weakness
OMIM:258450	POLG	5428	HP:0002403	Positive Romberg sign
OMIM:258450	POLG	5428	HP:0001634	Mitral valve prolapse
OMIM:258450	POLG	5428	HP:0000508	Ptosis
OMIM:258450	POLG	5428	HP:0002067	Bradykinesia
OMIM:258450	POLG	5428	HP:0003390	Sensory axonal neuropathy
OMIM:258450	POLG	5428	HP:0003236	Elevated serum creatine phosphokinase
OMIM:258450	POLG	5428	HP:0003581	Adult onset
OMIM:258450	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:258450	POLG	5428	HP:0002922	Increased CSF protein
OMIM:258450	POLG	5428	HP:0001260	Dysarthria
OMIM:258450	POLG	5428	HP:0003689	Multiple mitochondrial DNA deletions
OMIM:258450	POLG	5428	HP:0006886	Impaired distal vibration sensation
OMIM:258450	POLG	5428	HP:0001653	Mitral regurgitation
OMIM:258450	POLG	5428	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:258450	POLG	5428	HP:0001618	Dysphonia
OMIM:258450	POLG	5428	HP:0003713	Muscle fiber necrosis
OMIM:258450	POLG	5428	HP:0010628	Facial palsy
ORPHA:22	ALDH5A1	7915	HP:0000708	Behavioral abnormality
ORPHA:22	ALDH5A1	7915	HP:0001252	Muscular hypotonia
ORPHA:22	ALDH5A1	7915	HP:0002069	Generalized tonic-clonic seizures
ORPHA:22	ALDH5A1	7915	HP:0001249	Intellectual disability
ORPHA:22	ALDH5A1	7915	HP:0001263	Global developmental delay
ORPHA:22	ALDH5A1	7915	HP:0002133	Status epilepticus
ORPHA:22	ALDH5A1	7915	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:22	ALDH5A1	7915	HP:0001251	Ataxia
ORPHA:22	ALDH5A1	7915	HP:0002123	Generalized myoclonic seizures
OMIM:612233	HSPD1	3329	HP:0002104	Apnea
OMIM:612233	HSPD1	3329	HP:0000639	Nystagmus
OMIM:612233	HSPD1	3329	HP:0001266	Choreoathetosis
OMIM:612233	HSPD1	3329	HP:0008872	Feeding difficulties in infancy
OMIM:612233	HSPD1	3329	HP:0000007	Autosomal recessive inheritance
OMIM:612233	HSPD1	3329	HP:0005484	Postnatal microcephaly
OMIM:612233	HSPD1	3329	HP:0000486	Strabismus
OMIM:612233	HSPD1	3329	HP:0002191	Progressive spasticity
OMIM:612233	HSPD1	3329	HP:0002415	Leukodystrophy
OMIM:612233	HSPD1	3329	HP:0003623	Neonatal onset
OMIM:612233	HSPD1	3329	HP:0001250	Seizures
OMIM:612233	HSPD1	3329	HP:0001371	Flexion contracture
OMIM:612233	HSPD1	3329	HP:0001263	Global developmental delay
OMIM:612233	HSPD1	3329	HP:0001290	Generalized hypotonia
OMIM:612233	HSPD1	3329	HP:0003487	Babinski sign
OMIM:612233	HSPD1	3329	HP:0001347	Hyperreflexia
OMIM:612233	HSPD1	3329	HP:0002187	Intellectual disability, profound
OMIM:155600	PTEN	5728	HP:0012056	Cutaneous melanoma
OMIM:155600	PTEN	5728	HP:0000478	Abnormality of the eye
OMIM:155600	PTEN	5728	HP:0001054	Numerous nevi
OMIM:155600	PTEN	5728	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:155600	PTEN	5728	HP:0001062	Atypical nevus
OMIM:155600	PTEN	5728	HP:0007716	Intraocular melanoma
ORPHA:93387	PTHLH	5744	HP:0010049	Short metacarpal
ORPHA:93387	PTHLH	5744	HP:0004322	Short stature
ORPHA:93387	PTHLH	5744	HP:0009882	Short distal phalanx of finger
ORPHA:93387	PTHLH	5744	HP:0005863	Type E brachydactyly
ORPHA:93387	PTHLH	5744	HP:0005692	Joint hyperflexibility
ORPHA:93387	HOXD13	3239	HP:0010049	Short metacarpal
ORPHA:93387	HOXD13	3239	HP:0004322	Short stature
ORPHA:93387	HOXD13	3239	HP:0009882	Short distal phalanx of finger
ORPHA:93387	HOXD13	3239	HP:0005863	Type E brachydactyly
ORPHA:93387	HOXD13	3239	HP:0005692	Joint hyperflexibility
OMIM:617315	CYP1B1	1545	HP:0011484	Posterior synechiae of the anterior chamber
OMIM:617315	CYP1B1	1545	HP:0001087	Congenital glaucoma
OMIM:617315	CYP1B1	1545	HP:0011490	Abnormality of Descemet's membrane
OMIM:617315	CYP1B1	1545	HP:0011496	Corneal neovascularization
OMIM:617315	CYP1B1	1545	HP:0007957	Corneal opacity
OMIM:617315	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:617284	KMT2B	9757	HP:0000414	Bulbous nose
OMIM:617284	KMT2B	9757	HP:0012049	Laryngeal dystonia
OMIM:617284	KMT2B	9757	HP:0001260	Dysarthria
OMIM:617284	KMT2B	9757	HP:0012048	Oromandibular dystonia
OMIM:617284	KMT2B	9757	HP:0000006	Autosomal dominant inheritance
OMIM:617284	KMT2B	9757	HP:0003829	Incomplete penetrance
OMIM:617284	KMT2B	9757	HP:0040083	Toe walking
OMIM:617284	KMT2B	9757	HP:0002544	Retrocollis
OMIM:617284	KMT2B	9757	HP:0003676	Progressive
OMIM:615947	GPIHBP1	338328	HP:0001508	Failure to thrive
OMIM:615947	GPIHBP1	338328	HP:0001744	Splenomegaly
OMIM:615947	GPIHBP1	338328	HP:0000007	Autosomal recessive inheritance
OMIM:615947	GPIHBP1	338328	HP:0002240	Hepatomegaly
OMIM:615947	GPIHBP1	338328	HP:0010980	Hyperlipoproteinemia
OMIM:615817	WASHC4	23325	HP:0001249	Intellectual disability
OMIM:615817	WASHC4	23325	HP:0000007	Autosomal recessive inheritance
OMIM:615817	WASHC4	23325	HP:0001263	Global developmental delay
OMIM:615817	WASHC4	23325	HP:0004322	Short stature
OMIM:130650	CDKN1C	1028	HP:0001305	Dandy-Walker malformation
OMIM:130650	CDKN1C	1028	HP:0000006	Autosomal dominant inheritance
OMIM:130650	CDKN1C	1028	HP:0001539	Omphalocele
OMIM:130650	CDKN1C	1028	HP:0000280	Coarse facial features
OMIM:130650	CDKN1C	1028	HP:0001998	Neonatal hypoglycemia
OMIM:130650	CDKN1C	1028	HP:0000105	Enlarged kidney
OMIM:130650	CDKN1C	1028	HP:0000239	Large fontanelles
OMIM:130650	CDKN1C	1028	HP:0001640	Cardiomegaly
OMIM:130650	CDKN1C	1028	HP:0000158	Macroglossia
OMIM:130650	CDKN1C	1028	HP:0002667	Nephroblastoma
OMIM:130650	CDKN1C	1028	HP:0005487	Prominent metopic ridge
OMIM:130650	CDKN1C	1028	HP:0008523	Posterior helix pit
OMIM:130650	CDKN1C	1028	HP:0006744	Adrenocortical carcinoma
OMIM:130650	CDKN1C	1028	HP:0000269	Prominent occiput
OMIM:130650	CDKN1C	1028	HP:0002240	Hepatomegaly
OMIM:130650	CDKN1C	1028	HP:0000150	Gonadoblastoma
OMIM:130650	CDKN1C	1028	HP:0000076	Vesicoureteral reflux
OMIM:130650	CDKN1C	1028	HP:0011800	Midface retrusion
OMIM:130650	CDKN1C	1028	HP:0000520	Proptosis
OMIM:130650	CDKN1C	1028	HP:0001638	Cardiomyopathy
OMIM:130650	CDKN1C	1028	HP:0006277	Pancreatic hyperplasia
OMIM:130650	CDKN1C	1028	HP:0000121	Nephrocalcinosis
OMIM:130650	CDKN1C	1028	HP:0000803	Renal cortical cysts
OMIM:130650	CDKN1C	1028	HP:0001052	Nevus flammeus
OMIM:130650	CDKN1C	1028	HP:0003247	Overgrowth of external genitalia
OMIM:130650	CDKN1C	1028	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	CDKN1C	1028	HP:0005616	Accelerated skeletal maturation
OMIM:130650	CDKN1C	1028	HP:0000787	Nephrolithiasis
OMIM:130650	CDKN1C	1028	HP:0001528	Hemihypertrophy
OMIM:130650	CDKN1C	1028	HP:0001548	Overgrowth
OMIM:130650	CDKN1C	1028	HP:0000028	Cryptorchidism
OMIM:130650	CDKN1C	1028	HP:0002884	Hepatoblastoma
OMIM:130650	CDKN1C	1028	HP:0001540	Diastasis recti
OMIM:130650	H19	283120	HP:0001305	Dandy-Walker malformation
OMIM:130650	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:130650	H19	283120	HP:0001539	Omphalocele
OMIM:130650	H19	283120	HP:0000280	Coarse facial features
OMIM:130650	H19	283120	HP:0001998	Neonatal hypoglycemia
OMIM:130650	H19	283120	HP:0000105	Enlarged kidney
OMIM:130650	H19	283120	HP:0000239	Large fontanelles
OMIM:130650	H19	283120	HP:0001640	Cardiomegaly
OMIM:130650	H19	283120	HP:0000158	Macroglossia
OMIM:130650	H19	283120	HP:0002667	Nephroblastoma
OMIM:130650	H19	283120	HP:0005487	Prominent metopic ridge
OMIM:130650	H19	283120	HP:0008523	Posterior helix pit
OMIM:130650	H19	283120	HP:0006744	Adrenocortical carcinoma
OMIM:130650	H19	283120	HP:0000269	Prominent occiput
OMIM:130650	H19	283120	HP:0002240	Hepatomegaly
OMIM:130650	H19	283120	HP:0000150	Gonadoblastoma
OMIM:130650	H19	283120	HP:0000076	Vesicoureteral reflux
OMIM:130650	H19	283120	HP:0011800	Midface retrusion
OMIM:130650	H19	283120	HP:0000520	Proptosis
OMIM:130650	H19	283120	HP:0001638	Cardiomyopathy
OMIM:130650	H19	283120	HP:0006277	Pancreatic hyperplasia
OMIM:130650	H19	283120	HP:0000121	Nephrocalcinosis
OMIM:130650	H19	283120	HP:0000803	Renal cortical cysts
OMIM:130650	H19	283120	HP:0001052	Nevus flammeus
OMIM:130650	H19	283120	HP:0003247	Overgrowth of external genitalia
OMIM:130650	H19	283120	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	H19	283120	HP:0005616	Accelerated skeletal maturation
OMIM:130650	H19	283120	HP:0000787	Nephrolithiasis
OMIM:130650	H19	283120	HP:0001528	Hemihypertrophy
OMIM:130650	H19	283120	HP:0001548	Overgrowth
OMIM:130650	H19	283120	HP:0000028	Cryptorchidism
OMIM:130650	H19	283120	HP:0002884	Hepatoblastoma
OMIM:130650	H19	283120	HP:0001540	Diastasis recti
OMIM:130650	NSD1	64324	HP:0001305	Dandy-Walker malformation
OMIM:130650	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:130650	NSD1	64324	HP:0001539	Omphalocele
OMIM:130650	NSD1	64324	HP:0000280	Coarse facial features
OMIM:130650	NSD1	64324	HP:0001998	Neonatal hypoglycemia
OMIM:130650	NSD1	64324	HP:0000105	Enlarged kidney
OMIM:130650	NSD1	64324	HP:0000239	Large fontanelles
OMIM:130650	NSD1	64324	HP:0001640	Cardiomegaly
OMIM:130650	NSD1	64324	HP:0000158	Macroglossia
OMIM:130650	NSD1	64324	HP:0002667	Nephroblastoma
OMIM:130650	NSD1	64324	HP:0005487	Prominent metopic ridge
OMIM:130650	NSD1	64324	HP:0008523	Posterior helix pit
OMIM:130650	NSD1	64324	HP:0006744	Adrenocortical carcinoma
OMIM:130650	NSD1	64324	HP:0000269	Prominent occiput
OMIM:130650	NSD1	64324	HP:0002240	Hepatomegaly
OMIM:130650	NSD1	64324	HP:0000150	Gonadoblastoma
OMIM:130650	NSD1	64324	HP:0000076	Vesicoureteral reflux
OMIM:130650	NSD1	64324	HP:0011800	Midface retrusion
OMIM:130650	NSD1	64324	HP:0000520	Proptosis
OMIM:130650	NSD1	64324	HP:0001638	Cardiomyopathy
OMIM:130650	NSD1	64324	HP:0006277	Pancreatic hyperplasia
OMIM:130650	NSD1	64324	HP:0000121	Nephrocalcinosis
OMIM:130650	NSD1	64324	HP:0000803	Renal cortical cysts
OMIM:130650	NSD1	64324	HP:0001052	Nevus flammeus
OMIM:130650	NSD1	64324	HP:0003247	Overgrowth of external genitalia
OMIM:130650	NSD1	64324	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	NSD1	64324	HP:0005616	Accelerated skeletal maturation
OMIM:130650	NSD1	64324	HP:0000787	Nephrolithiasis
OMIM:130650	NSD1	64324	HP:0001528	Hemihypertrophy
OMIM:130650	NSD1	64324	HP:0001548	Overgrowth
OMIM:130650	NSD1	64324	HP:0000028	Cryptorchidism
OMIM:130650	NSD1	64324	HP:0002884	Hepatoblastoma
OMIM:130650	NSD1	64324	HP:0001540	Diastasis recti
OMIM:130650	KCNQ1OT1	10984	HP:0001305	Dandy-Walker malformation
OMIM:130650	KCNQ1OT1	10984	HP:0000006	Autosomal dominant inheritance
OMIM:130650	KCNQ1OT1	10984	HP:0001539	Omphalocele
OMIM:130650	KCNQ1OT1	10984	HP:0000280	Coarse facial features
OMIM:130650	KCNQ1OT1	10984	HP:0001998	Neonatal hypoglycemia
OMIM:130650	KCNQ1OT1	10984	HP:0000105	Enlarged kidney
OMIM:130650	KCNQ1OT1	10984	HP:0000239	Large fontanelles
OMIM:130650	KCNQ1OT1	10984	HP:0001640	Cardiomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0000158	Macroglossia
OMIM:130650	KCNQ1OT1	10984	HP:0002667	Nephroblastoma
OMIM:130650	KCNQ1OT1	10984	HP:0005487	Prominent metopic ridge
OMIM:130650	KCNQ1OT1	10984	HP:0008523	Posterior helix pit
OMIM:130650	KCNQ1OT1	10984	HP:0006744	Adrenocortical carcinoma
OMIM:130650	KCNQ1OT1	10984	HP:0000269	Prominent occiput
OMIM:130650	KCNQ1OT1	10984	HP:0002240	Hepatomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0000150	Gonadoblastoma
OMIM:130650	KCNQ1OT1	10984	HP:0000076	Vesicoureteral reflux
OMIM:130650	KCNQ1OT1	10984	HP:0011800	Midface retrusion
OMIM:130650	KCNQ1OT1	10984	HP:0000520	Proptosis
OMIM:130650	KCNQ1OT1	10984	HP:0001638	Cardiomyopathy
OMIM:130650	KCNQ1OT1	10984	HP:0006277	Pancreatic hyperplasia
OMIM:130650	KCNQ1OT1	10984	HP:0000121	Nephrocalcinosis
OMIM:130650	KCNQ1OT1	10984	HP:0000803	Renal cortical cysts
OMIM:130650	KCNQ1OT1	10984	HP:0001052	Nevus flammeus
OMIM:130650	KCNQ1OT1	10984	HP:0003247	Overgrowth of external genitalia
OMIM:130650	KCNQ1OT1	10984	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0005616	Accelerated skeletal maturation
OMIM:130650	KCNQ1OT1	10984	HP:0000787	Nephrolithiasis
OMIM:130650	KCNQ1OT1	10984	HP:0001528	Hemihypertrophy
OMIM:130650	KCNQ1OT1	10984	HP:0001548	Overgrowth
OMIM:130650	KCNQ1OT1	10984	HP:0000028	Cryptorchidism
OMIM:130650	KCNQ1OT1	10984	HP:0002884	Hepatoblastoma
OMIM:130650	KCNQ1OT1	10984	HP:0001540	Diastasis recti
OMIM:130650	KCNQ1	3784	HP:0001305	Dandy-Walker malformation
OMIM:130650	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:130650	KCNQ1	3784	HP:0001539	Omphalocele
OMIM:130650	KCNQ1	3784	HP:0000280	Coarse facial features
OMIM:130650	KCNQ1	3784	HP:0001998	Neonatal hypoglycemia
OMIM:130650	KCNQ1	3784	HP:0000105	Enlarged kidney
OMIM:130650	KCNQ1	3784	HP:0000239	Large fontanelles
OMIM:130650	KCNQ1	3784	HP:0001640	Cardiomegaly
OMIM:130650	KCNQ1	3784	HP:0000158	Macroglossia
OMIM:130650	KCNQ1	3784	HP:0002667	Nephroblastoma
OMIM:130650	KCNQ1	3784	HP:0005487	Prominent metopic ridge
OMIM:130650	KCNQ1	3784	HP:0008523	Posterior helix pit
OMIM:130650	KCNQ1	3784	HP:0006744	Adrenocortical carcinoma
OMIM:130650	KCNQ1	3784	HP:0000269	Prominent occiput
OMIM:130650	KCNQ1	3784	HP:0002240	Hepatomegaly
OMIM:130650	KCNQ1	3784	HP:0000150	Gonadoblastoma
OMIM:130650	KCNQ1	3784	HP:0000076	Vesicoureteral reflux
OMIM:130650	KCNQ1	3784	HP:0011800	Midface retrusion
OMIM:130650	KCNQ1	3784	HP:0000520	Proptosis
OMIM:130650	KCNQ1	3784	HP:0001638	Cardiomyopathy
OMIM:130650	KCNQ1	3784	HP:0006277	Pancreatic hyperplasia
OMIM:130650	KCNQ1	3784	HP:0000121	Nephrocalcinosis
OMIM:130650	KCNQ1	3784	HP:0000803	Renal cortical cysts
OMIM:130650	KCNQ1	3784	HP:0001052	Nevus flammeus
OMIM:130650	KCNQ1	3784	HP:0003247	Overgrowth of external genitalia
OMIM:130650	KCNQ1	3784	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	KCNQ1	3784	HP:0005616	Accelerated skeletal maturation
OMIM:130650	KCNQ1	3784	HP:0000787	Nephrolithiasis
OMIM:130650	KCNQ1	3784	HP:0001528	Hemihypertrophy
OMIM:130650	KCNQ1	3784	HP:0001548	Overgrowth
OMIM:130650	KCNQ1	3784	HP:0000028	Cryptorchidism
OMIM:130650	KCNQ1	3784	HP:0002884	Hepatoblastoma
OMIM:130650	KCNQ1	3784	HP:0001540	Diastasis recti
OMIM:130650	H19-ICR	105259599	HP:0001305	Dandy-Walker malformation
OMIM:130650	H19-ICR	105259599	HP:0000006	Autosomal dominant inheritance
OMIM:130650	H19-ICR	105259599	HP:0001539	Omphalocele
OMIM:130650	H19-ICR	105259599	HP:0000280	Coarse facial features
OMIM:130650	H19-ICR	105259599	HP:0001998	Neonatal hypoglycemia
OMIM:130650	H19-ICR	105259599	HP:0000105	Enlarged kidney
OMIM:130650	H19-ICR	105259599	HP:0000239	Large fontanelles
OMIM:130650	H19-ICR	105259599	HP:0001640	Cardiomegaly
OMIM:130650	H19-ICR	105259599	HP:0000158	Macroglossia
OMIM:130650	H19-ICR	105259599	HP:0002667	Nephroblastoma
OMIM:130650	H19-ICR	105259599	HP:0005487	Prominent metopic ridge
OMIM:130650	H19-ICR	105259599	HP:0008523	Posterior helix pit
OMIM:130650	H19-ICR	105259599	HP:0006744	Adrenocortical carcinoma
OMIM:130650	H19-ICR	105259599	HP:0000269	Prominent occiput
OMIM:130650	H19-ICR	105259599	HP:0002240	Hepatomegaly
OMIM:130650	H19-ICR	105259599	HP:0000150	Gonadoblastoma
OMIM:130650	H19-ICR	105259599	HP:0000076	Vesicoureteral reflux
OMIM:130650	H19-ICR	105259599	HP:0011800	Midface retrusion
OMIM:130650	H19-ICR	105259599	HP:0000520	Proptosis
OMIM:130650	H19-ICR	105259599	HP:0001638	Cardiomyopathy
OMIM:130650	H19-ICR	105259599	HP:0006277	Pancreatic hyperplasia
OMIM:130650	H19-ICR	105259599	HP:0000121	Nephrocalcinosis
OMIM:130650	H19-ICR	105259599	HP:0000803	Renal cortical cysts
OMIM:130650	H19-ICR	105259599	HP:0001052	Nevus flammeus
OMIM:130650	H19-ICR	105259599	HP:0003247	Overgrowth of external genitalia
OMIM:130650	H19-ICR	105259599	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	H19-ICR	105259599	HP:0005616	Accelerated skeletal maturation
OMIM:130650	H19-ICR	105259599	HP:0000787	Nephrolithiasis
OMIM:130650	H19-ICR	105259599	HP:0001528	Hemihypertrophy
OMIM:130650	H19-ICR	105259599	HP:0001548	Overgrowth
OMIM:130650	H19-ICR	105259599	HP:0000028	Cryptorchidism
OMIM:130650	H19-ICR	105259599	HP:0002884	Hepatoblastoma
OMIM:130650	H19-ICR	105259599	HP:0001540	Diastasis recti
OMIM:130650	IGF2	3481	HP:0001305	Dandy-Walker malformation
OMIM:130650	IGF2	3481	HP:0000006	Autosomal dominant inheritance
OMIM:130650	IGF2	3481	HP:0001539	Omphalocele
OMIM:130650	IGF2	3481	HP:0000280	Coarse facial features
OMIM:130650	IGF2	3481	HP:0001998	Neonatal hypoglycemia
OMIM:130650	IGF2	3481	HP:0000105	Enlarged kidney
OMIM:130650	IGF2	3481	HP:0000239	Large fontanelles
OMIM:130650	IGF2	3481	HP:0001640	Cardiomegaly
OMIM:130650	IGF2	3481	HP:0000158	Macroglossia
OMIM:130650	IGF2	3481	HP:0002667	Nephroblastoma
OMIM:130650	IGF2	3481	HP:0005487	Prominent metopic ridge
OMIM:130650	IGF2	3481	HP:0008523	Posterior helix pit
OMIM:130650	IGF2	3481	HP:0006744	Adrenocortical carcinoma
OMIM:130650	IGF2	3481	HP:0000269	Prominent occiput
OMIM:130650	IGF2	3481	HP:0002240	Hepatomegaly
OMIM:130650	IGF2	3481	HP:0000150	Gonadoblastoma
OMIM:130650	IGF2	3481	HP:0000076	Vesicoureteral reflux
OMIM:130650	IGF2	3481	HP:0011800	Midface retrusion
OMIM:130650	IGF2	3481	HP:0000520	Proptosis
OMIM:130650	IGF2	3481	HP:0001638	Cardiomyopathy
OMIM:130650	IGF2	3481	HP:0006277	Pancreatic hyperplasia
OMIM:130650	IGF2	3481	HP:0000121	Nephrocalcinosis
OMIM:130650	IGF2	3481	HP:0000803	Renal cortical cysts
OMIM:130650	IGF2	3481	HP:0001052	Nevus flammeus
OMIM:130650	IGF2	3481	HP:0003247	Overgrowth of external genitalia
OMIM:130650	IGF2	3481	HP:0008186	Adrenocortical cytomegaly
OMIM:130650	IGF2	3481	HP:0005616	Accelerated skeletal maturation
OMIM:130650	IGF2	3481	HP:0000787	Nephrolithiasis
OMIM:130650	IGF2	3481	HP:0001528	Hemihypertrophy
OMIM:130650	IGF2	3481	HP:0001548	Overgrowth
OMIM:130650	IGF2	3481	HP:0000028	Cryptorchidism
OMIM:130650	IGF2	3481	HP:0002884	Hepatoblastoma
OMIM:130650	IGF2	3481	HP:0001540	Diastasis recti
OMIM:143470	CETP	1071	HP:0012184	Increased circulating high-density lipoprotein levels
OMIM:143470	CETP	1071	HP:0000006	Autosomal dominant inheritance
ORPHA:1646	DAZ1	1617	HP:0000798	Oligospermia
ORPHA:1646	DAZ1	1617	HP:0003251	Male infertility
ORPHA:1646	DAZ1	1617	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	DAZ1	1617	HP:0008734	Decreased testicular size
ORPHA:1646	RBMY1A1	5940	HP:0000798	Oligospermia
ORPHA:1646	RBMY1A1	5940	HP:0003251	Male infertility
ORPHA:1646	RBMY1A1	5940	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	RBMY1A1	5940	HP:0008734	Decreased testicular size
ORPHA:1646	TSPY1	7258	HP:0000798	Oligospermia
ORPHA:1646	TSPY1	7258	HP:0003251	Male infertility
ORPHA:1646	TSPY1	7258	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	TSPY1	7258	HP:0008734	Decreased testicular size
ORPHA:1646	DDX3Y	8653	HP:0000798	Oligospermia
ORPHA:1646	DDX3Y	8653	HP:0003251	Male infertility
ORPHA:1646	DDX3Y	8653	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	DDX3Y	8653	HP:0008734	Decreased testicular size
ORPHA:1646	DAZ3	57054	HP:0000798	Oligospermia
ORPHA:1646	DAZ3	57054	HP:0003251	Male infertility
ORPHA:1646	DAZ3	57054	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	DAZ3	57054	HP:0008734	Decreased testicular size
ORPHA:1646	USP9Y	8287	HP:0000798	Oligospermia
ORPHA:1646	USP9Y	8287	HP:0003251	Male infertility
ORPHA:1646	USP9Y	8287	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	USP9Y	8287	HP:0008734	Decreased testicular size
ORPHA:1646	DAZ2	57055	HP:0000798	Oligospermia
ORPHA:1646	DAZ2	57055	HP:0003251	Male infertility
ORPHA:1646	DAZ2	57055	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	DAZ2	57055	HP:0008734	Decreased testicular size
ORPHA:1646	DAZ4	57135	HP:0000798	Oligospermia
ORPHA:1646	DAZ4	57135	HP:0003251	Male infertility
ORPHA:1646	DAZ4	57135	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	DAZ4	57135	HP:0008734	Decreased testicular size
OMIM:615225	NLRP1	22861	HP:0000968	Ectodermal dysplasia
OMIM:615225	NLRP1	22861	HP:0007502	Follicular hyperkeratosis
OMIM:615225	NLRP1	22861	HP:0002860	Squamous cell carcinoma
OMIM:615225	NLRP1	22861	HP:0001036	Parakeratosis
OMIM:615225	NLRP1	22861	HP:0000006	Autosomal dominant inheritance
OMIM:615225	NLRP1	22861	HP:0000982	Palmoplantar keratoderma
OMIM:615225	NLRP1	22861	HP:0025092	Epidermal acanthosis
OMIM:615225	NLRP1	22861	HP:0011496	Corneal neovascularization
OMIM:609637	ZIC2	7546	HP:0000252	Microcephaly
OMIM:609637	ZIC2	7546	HP:0001249	Intellectual disability
OMIM:609637	ZIC2	7546	HP:0000006	Autosomal dominant inheritance
OMIM:609637	ZIC2	7546	HP:0001263	Global developmental delay
OMIM:609637	ZIC2	7546	HP:0000238	Hydrocephalus
OMIM:609637	ZIC2	7546	HP:0000243	Trigonocephaly
OMIM:609637	ZIC2	7546	HP:0000664	Synophrys
OMIM:609637	ZIC2	7546	HP:0001999	Abnormal facial shape
OMIM:609637	ZIC2	7546	HP:0001360	Holoprosencephaly
OMIM:612989	TMEM126A	84233	HP:0001133	Constriction of peripheral visual field
OMIM:612989	TMEM126A	84233	HP:0000505	Visual impairment
OMIM:612989	TMEM126A	84233	HP:0000603	Central scotoma
OMIM:612989	TMEM126A	84233	HP:0000007	Autosomal recessive inheritance
OMIM:612989	TMEM126A	84233	HP:0000543	Optic disc pallor
OMIM:612989	TMEM126A	84233	HP:0003828	Variable expressivity
OMIM:612989	TMEM126A	84233	HP:0000648	Optic atrophy
OMIM:612989	TMEM126A	84233	HP:0007641	Dyschromatopsia
OMIM:612989	TMEM126A	84233	HP:0007663	Reduced visual acuity
OMIM:176860	PROC	5624	HP:0001038	Warfarin-induced skin necrosis
OMIM:176860	PROC	5624	HP:0000006	Autosomal dominant inheritance
OMIM:176860	PROC	5624	HP:0000478	Abnormality of the eye
OMIM:176860	PROC	5624	HP:0100724	Hypercoagulability
OMIM:176860	PROC	5624	HP:0002204	Pulmonary embolism
OMIM:176860	PROC	5624	HP:0002638	Superficial thrombophlebitis
OMIM:176860	PROC	5624	HP:0005543	Reduced protein C activity
OMIM:176860	PROC	5624	HP:0000707	Abnormality of the nervous system
OMIM:176860	PROC	5624	HP:0002625	Deep venous thrombosis
OMIM:176860	PROC	5624	HP:0005305	Cerebral venous thrombosis
OMIM:613280	SLC30A10	55532	HP:0002067	Bradykinesia
OMIM:613280	SLC30A10	55532	HP:0001332	Dystonia
OMIM:613280	SLC30A10	55532	HP:0001337	Tremor
OMIM:613280	SLC30A10	55532	HP:0001394	Cirrhosis
OMIM:613280	SLC30A10	55532	HP:0002063	Rigidity
OMIM:613280	SLC30A10	55532	HP:0002910	Elevated hepatic transaminases
OMIM:613280	SLC30A10	55532	HP:0002172	Postural instability
OMIM:613280	SLC30A10	55532	HP:0000007	Autosomal recessive inheritance
OMIM:613280	SLC30A10	55532	HP:0001300	Parkinsonism
OMIM:613280	SLC30A10	55532	HP:0001260	Dysarthria
OMIM:613280	SLC30A10	55532	HP:0002240	Hepatomegaly
OMIM:613280	SLC30A10	55532	HP:0007010	Poor fine motor coordination
OMIM:613280	SLC30A10	55532	HP:0003828	Variable expressivity
OMIM:613280	SLC30A10	55532	HP:0001410	Decreased liver function
OMIM:613280	SLC30A10	55532	HP:0001901	Polycythemia
OMIM:613280	SLC30A10	55532	HP:0025196	Increased total iron binding capacity
ORPHA:244	DNAJB13	374407	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCNO	10309	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAI1	27019	HP:0002205	Recurrent respiratory infections
ORPHA:244	DRC1	92749	HP:0002205	Recurrent respiratory infections
ORPHA:244	PIH1D3	139212	HP:0002205	Recurrent respiratory infections
ORPHA:244	SPAG1	6674	HP:0002205	Recurrent respiratory infections
ORPHA:244	TTC25	83538	HP:0002205	Recurrent respiratory infections
ORPHA:244	RSPH3	83861	HP:0002205	Recurrent respiratory infections
ORPHA:244	RPGR	6103	HP:0002205	Recurrent respiratory infections
ORPHA:244	LRRC6	23639	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAL1	83544	HP:0002205	Recurrent respiratory infections
ORPHA:244	ARMC4	55130	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC103	388389	HP:0002205	Recurrent respiratory infections
ORPHA:244	OFD1	8481	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
ORPHA:244	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
ORPHA:244	RSPH1	89765	HP:0002205	Recurrent respiratory infections
ORPHA:244	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAH5	1767	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC65	85478	HP:0002205	Recurrent respiratory infections
ORPHA:244	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAAF4	161582	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC151	115948	HP:0002205	Recurrent respiratory infections
ORPHA:244	RSPH9	221421	HP:0002205	Recurrent respiratory infections
ORPHA:244	MCIDAS	345643	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC39	339829	HP:0002205	Recurrent respiratory infections
ORPHA:244	HYDIN	54768	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC114	93233	HP:0002205	Recurrent respiratory infections
ORPHA:244	NME8	51314	HP:0002205	Recurrent respiratory infections
ORPHA:244	CCDC40	55036	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAH11	8701	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAH1	25981	HP:0002205	Recurrent respiratory infections
ORPHA:244	DNAI2	64446	HP:0002205	Recurrent respiratory infections
ORPHA:244	GAS8	2622	HP:0002205	Recurrent respiratory infections
ORPHA:791	RLBP1	6017	HP:0000135	Hypogonadism
ORPHA:791	RLBP1	6017	HP:0000602	Ophthalmoplegia
ORPHA:791	RLBP1	6017	HP:0000618	Blindness
ORPHA:791	RLBP1	6017	HP:0000987	Atypical scarring of skin
ORPHA:791	RLBP1	6017	HP:0000639	Nystagmus
ORPHA:791	RLBP1	6017	HP:0000648	Optic atrophy
ORPHA:791	RLBP1	6017	HP:0000405	Conductive hearing impairment
ORPHA:791	RLBP1	6017	HP:0001513	Obesity
ORPHA:791	RLBP1	6017	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RLBP1	6017	HP:0000842	Hyperinsulinemia
ORPHA:791	RLBP1	6017	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RLBP1	6017	HP:0000463	Anteverted nares
ORPHA:791	RLBP1	6017	HP:0000501	Glaucoma
ORPHA:791	RLBP1	6017	HP:0000035	Abnormality of the testis
ORPHA:791	RLBP1	6017	HP:0008736	Hypoplasia of penis
ORPHA:791	RLBP1	6017	HP:0007675	Progressive night blindness
ORPHA:791	RLBP1	6017	HP:0000518	Cataract
ORPHA:791	RLBP1	6017	HP:0000563	Keratoconus
ORPHA:791	RLBP1	6017	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RLBP1	6017	HP:0000431	Wide nasal bridge
ORPHA:791	RLBP1	6017	HP:0000512	Abnormal electroretinogram
ORPHA:791	RLBP1	6017	HP:0001249	Intellectual disability
ORPHA:791	RLBP1	6017	HP:0000613	Photophobia
ORPHA:791	SPATA7	55812	HP:0000135	Hypogonadism
ORPHA:791	SPATA7	55812	HP:0000602	Ophthalmoplegia
ORPHA:791	SPATA7	55812	HP:0000618	Blindness
ORPHA:791	SPATA7	55812	HP:0000987	Atypical scarring of skin
ORPHA:791	SPATA7	55812	HP:0000639	Nystagmus
ORPHA:791	SPATA7	55812	HP:0000648	Optic atrophy
ORPHA:791	SPATA7	55812	HP:0000405	Conductive hearing impairment
ORPHA:791	SPATA7	55812	HP:0001513	Obesity
ORPHA:791	SPATA7	55812	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SPATA7	55812	HP:0000842	Hyperinsulinemia
ORPHA:791	SPATA7	55812	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SPATA7	55812	HP:0000463	Anteverted nares
ORPHA:791	SPATA7	55812	HP:0000501	Glaucoma
ORPHA:791	SPATA7	55812	HP:0000035	Abnormality of the testis
ORPHA:791	SPATA7	55812	HP:0008736	Hypoplasia of penis
ORPHA:791	SPATA7	55812	HP:0007675	Progressive night blindness
ORPHA:791	SPATA7	55812	HP:0000518	Cataract
ORPHA:791	SPATA7	55812	HP:0000563	Keratoconus
ORPHA:791	SPATA7	55812	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SPATA7	55812	HP:0000431	Wide nasal bridge
ORPHA:791	SPATA7	55812	HP:0000512	Abnormal electroretinogram
ORPHA:791	SPATA7	55812	HP:0001249	Intellectual disability
ORPHA:791	SPATA7	55812	HP:0000613	Photophobia
ORPHA:791	ARL6	84100	HP:0000135	Hypogonadism
ORPHA:791	ARL6	84100	HP:0000602	Ophthalmoplegia
ORPHA:791	ARL6	84100	HP:0000618	Blindness
ORPHA:791	ARL6	84100	HP:0000987	Atypical scarring of skin
ORPHA:791	ARL6	84100	HP:0000639	Nystagmus
ORPHA:791	ARL6	84100	HP:0000648	Optic atrophy
ORPHA:791	ARL6	84100	HP:0000405	Conductive hearing impairment
ORPHA:791	ARL6	84100	HP:0001513	Obesity
ORPHA:791	ARL6	84100	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ARL6	84100	HP:0000842	Hyperinsulinemia
ORPHA:791	ARL6	84100	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ARL6	84100	HP:0000463	Anteverted nares
ORPHA:791	ARL6	84100	HP:0000501	Glaucoma
ORPHA:791	ARL6	84100	HP:0000035	Abnormality of the testis
ORPHA:791	ARL6	84100	HP:0008736	Hypoplasia of penis
ORPHA:791	ARL6	84100	HP:0007675	Progressive night blindness
ORPHA:791	ARL6	84100	HP:0000518	Cataract
ORPHA:791	ARL6	84100	HP:0000563	Keratoconus
ORPHA:791	ARL6	84100	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ARL6	84100	HP:0000431	Wide nasal bridge
ORPHA:791	ARL6	84100	HP:0000512	Abnormal electroretinogram
ORPHA:791	ARL6	84100	HP:0001249	Intellectual disability
ORPHA:791	ARL6	84100	HP:0000613	Photophobia
ORPHA:791	CERKL	375298	HP:0000135	Hypogonadism
ORPHA:791	CERKL	375298	HP:0000602	Ophthalmoplegia
ORPHA:791	CERKL	375298	HP:0000618	Blindness
ORPHA:791	CERKL	375298	HP:0000987	Atypical scarring of skin
ORPHA:791	CERKL	375298	HP:0000639	Nystagmus
ORPHA:791	CERKL	375298	HP:0000648	Optic atrophy
ORPHA:791	CERKL	375298	HP:0000405	Conductive hearing impairment
ORPHA:791	CERKL	375298	HP:0001513	Obesity
ORPHA:791	CERKL	375298	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CERKL	375298	HP:0000842	Hyperinsulinemia
ORPHA:791	CERKL	375298	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CERKL	375298	HP:0000463	Anteverted nares
ORPHA:791	CERKL	375298	HP:0000501	Glaucoma
ORPHA:791	CERKL	375298	HP:0000035	Abnormality of the testis
ORPHA:791	CERKL	375298	HP:0008736	Hypoplasia of penis
ORPHA:791	CERKL	375298	HP:0007675	Progressive night blindness
ORPHA:791	CERKL	375298	HP:0000518	Cataract
ORPHA:791	CERKL	375298	HP:0000563	Keratoconus
ORPHA:791	CERKL	375298	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CERKL	375298	HP:0000431	Wide nasal bridge
ORPHA:791	CERKL	375298	HP:0000512	Abnormal electroretinogram
ORPHA:791	CERKL	375298	HP:0001249	Intellectual disability
ORPHA:791	CERKL	375298	HP:0000613	Photophobia
ORPHA:791	PRPF31	26121	HP:0000135	Hypogonadism
ORPHA:791	PRPF31	26121	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPF31	26121	HP:0000618	Blindness
ORPHA:791	PRPF31	26121	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPF31	26121	HP:0000639	Nystagmus
ORPHA:791	PRPF31	26121	HP:0000648	Optic atrophy
ORPHA:791	PRPF31	26121	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPF31	26121	HP:0001513	Obesity
ORPHA:791	PRPF31	26121	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPF31	26121	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPF31	26121	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPF31	26121	HP:0000463	Anteverted nares
ORPHA:791	PRPF31	26121	HP:0000501	Glaucoma
ORPHA:791	PRPF31	26121	HP:0000035	Abnormality of the testis
ORPHA:791	PRPF31	26121	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPF31	26121	HP:0007675	Progressive night blindness
ORPHA:791	PRPF31	26121	HP:0000518	Cataract
ORPHA:791	PRPF31	26121	HP:0000563	Keratoconus
ORPHA:791	PRPF31	26121	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPF31	26121	HP:0000431	Wide nasal bridge
ORPHA:791	PRPF31	26121	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPF31	26121	HP:0001249	Intellectual disability
ORPHA:791	PRPF31	26121	HP:0000613	Photophobia
ORPHA:791	TTC8	123016	HP:0000135	Hypogonadism
ORPHA:791	TTC8	123016	HP:0000602	Ophthalmoplegia
ORPHA:791	TTC8	123016	HP:0000618	Blindness
ORPHA:791	TTC8	123016	HP:0000987	Atypical scarring of skin
ORPHA:791	TTC8	123016	HP:0000639	Nystagmus
ORPHA:791	TTC8	123016	HP:0000648	Optic atrophy
ORPHA:791	TTC8	123016	HP:0000405	Conductive hearing impairment
ORPHA:791	TTC8	123016	HP:0001513	Obesity
ORPHA:791	TTC8	123016	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	TTC8	123016	HP:0000842	Hyperinsulinemia
ORPHA:791	TTC8	123016	HP:0000407	Sensorineural hearing impairment
ORPHA:791	TTC8	123016	HP:0000463	Anteverted nares
ORPHA:791	TTC8	123016	HP:0000501	Glaucoma
ORPHA:791	TTC8	123016	HP:0000035	Abnormality of the testis
ORPHA:791	TTC8	123016	HP:0008736	Hypoplasia of penis
ORPHA:791	TTC8	123016	HP:0007675	Progressive night blindness
ORPHA:791	TTC8	123016	HP:0000518	Cataract
ORPHA:791	TTC8	123016	HP:0000563	Keratoconus
ORPHA:791	TTC8	123016	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	TTC8	123016	HP:0000431	Wide nasal bridge
ORPHA:791	TTC8	123016	HP:0000512	Abnormal electroretinogram
ORPHA:791	TTC8	123016	HP:0001249	Intellectual disability
ORPHA:791	TTC8	123016	HP:0000613	Photophobia
ORPHA:791	PROM1	8842	HP:0000135	Hypogonadism
ORPHA:791	PROM1	8842	HP:0000602	Ophthalmoplegia
ORPHA:791	PROM1	8842	HP:0000618	Blindness
ORPHA:791	PROM1	8842	HP:0000987	Atypical scarring of skin
ORPHA:791	PROM1	8842	HP:0000639	Nystagmus
ORPHA:791	PROM1	8842	HP:0000648	Optic atrophy
ORPHA:791	PROM1	8842	HP:0000405	Conductive hearing impairment
ORPHA:791	PROM1	8842	HP:0001513	Obesity
ORPHA:791	PROM1	8842	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PROM1	8842	HP:0000842	Hyperinsulinemia
ORPHA:791	PROM1	8842	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PROM1	8842	HP:0000463	Anteverted nares
ORPHA:791	PROM1	8842	HP:0000501	Glaucoma
ORPHA:791	PROM1	8842	HP:0000035	Abnormality of the testis
ORPHA:791	PROM1	8842	HP:0008736	Hypoplasia of penis
ORPHA:791	PROM1	8842	HP:0007675	Progressive night blindness
ORPHA:791	PROM1	8842	HP:0000518	Cataract
ORPHA:791	PROM1	8842	HP:0000563	Keratoconus
ORPHA:791	PROM1	8842	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PROM1	8842	HP:0000431	Wide nasal bridge
ORPHA:791	PROM1	8842	HP:0000512	Abnormal electroretinogram
ORPHA:791	PROM1	8842	HP:0001249	Intellectual disability
ORPHA:791	PROM1	8842	HP:0000613	Photophobia
ORPHA:791	LRAT	9227	HP:0000135	Hypogonadism
ORPHA:791	LRAT	9227	HP:0000602	Ophthalmoplegia
ORPHA:791	LRAT	9227	HP:0000618	Blindness
ORPHA:791	LRAT	9227	HP:0000987	Atypical scarring of skin
ORPHA:791	LRAT	9227	HP:0000639	Nystagmus
ORPHA:791	LRAT	9227	HP:0000648	Optic atrophy
ORPHA:791	LRAT	9227	HP:0000405	Conductive hearing impairment
ORPHA:791	LRAT	9227	HP:0001513	Obesity
ORPHA:791	LRAT	9227	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	LRAT	9227	HP:0000842	Hyperinsulinemia
ORPHA:791	LRAT	9227	HP:0000407	Sensorineural hearing impairment
ORPHA:791	LRAT	9227	HP:0000463	Anteverted nares
ORPHA:791	LRAT	9227	HP:0000501	Glaucoma
ORPHA:791	LRAT	9227	HP:0000035	Abnormality of the testis
ORPHA:791	LRAT	9227	HP:0008736	Hypoplasia of penis
ORPHA:791	LRAT	9227	HP:0007675	Progressive night blindness
ORPHA:791	LRAT	9227	HP:0000518	Cataract
ORPHA:791	LRAT	9227	HP:0000563	Keratoconus
ORPHA:791	LRAT	9227	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	LRAT	9227	HP:0000431	Wide nasal bridge
ORPHA:791	LRAT	9227	HP:0000512	Abnormal electroretinogram
ORPHA:791	LRAT	9227	HP:0001249	Intellectual disability
ORPHA:791	LRAT	9227	HP:0000613	Photophobia
ORPHA:791	IFT140	9742	HP:0000135	Hypogonadism
ORPHA:791	IFT140	9742	HP:0000602	Ophthalmoplegia
ORPHA:791	IFT140	9742	HP:0000618	Blindness
ORPHA:791	IFT140	9742	HP:0000987	Atypical scarring of skin
ORPHA:791	IFT140	9742	HP:0000639	Nystagmus
ORPHA:791	IFT140	9742	HP:0000648	Optic atrophy
ORPHA:791	IFT140	9742	HP:0000405	Conductive hearing impairment
ORPHA:791	IFT140	9742	HP:0001513	Obesity
ORPHA:791	IFT140	9742	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	IFT140	9742	HP:0000842	Hyperinsulinemia
ORPHA:791	IFT140	9742	HP:0000407	Sensorineural hearing impairment
ORPHA:791	IFT140	9742	HP:0000463	Anteverted nares
ORPHA:791	IFT140	9742	HP:0000501	Glaucoma
ORPHA:791	IFT140	9742	HP:0000035	Abnormality of the testis
ORPHA:791	IFT140	9742	HP:0008736	Hypoplasia of penis
ORPHA:791	IFT140	9742	HP:0007675	Progressive night blindness
ORPHA:791	IFT140	9742	HP:0000518	Cataract
ORPHA:791	IFT140	9742	HP:0000563	Keratoconus
ORPHA:791	IFT140	9742	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	IFT140	9742	HP:0000431	Wide nasal bridge
ORPHA:791	IFT140	9742	HP:0000512	Abnormal electroretinogram
ORPHA:791	IFT140	9742	HP:0001249	Intellectual disability
ORPHA:791	IFT140	9742	HP:0000613	Photophobia
ORPHA:791	BEST1	7439	HP:0000135	Hypogonadism
ORPHA:791	BEST1	7439	HP:0000602	Ophthalmoplegia
ORPHA:791	BEST1	7439	HP:0000618	Blindness
ORPHA:791	BEST1	7439	HP:0000987	Atypical scarring of skin
ORPHA:791	BEST1	7439	HP:0000639	Nystagmus
ORPHA:791	BEST1	7439	HP:0000648	Optic atrophy
ORPHA:791	BEST1	7439	HP:0000405	Conductive hearing impairment
ORPHA:791	BEST1	7439	HP:0001513	Obesity
ORPHA:791	BEST1	7439	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	BEST1	7439	HP:0000842	Hyperinsulinemia
ORPHA:791	BEST1	7439	HP:0000407	Sensorineural hearing impairment
ORPHA:791	BEST1	7439	HP:0000463	Anteverted nares
ORPHA:791	BEST1	7439	HP:0000501	Glaucoma
ORPHA:791	BEST1	7439	HP:0000035	Abnormality of the testis
ORPHA:791	BEST1	7439	HP:0008736	Hypoplasia of penis
ORPHA:791	BEST1	7439	HP:0007675	Progressive night blindness
ORPHA:791	BEST1	7439	HP:0000518	Cataract
ORPHA:791	BEST1	7439	HP:0000563	Keratoconus
ORPHA:791	BEST1	7439	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	BEST1	7439	HP:0000431	Wide nasal bridge
ORPHA:791	BEST1	7439	HP:0000512	Abnormal electroretinogram
ORPHA:791	BEST1	7439	HP:0001249	Intellectual disability
ORPHA:791	BEST1	7439	HP:0000613	Photophobia
ORPHA:791	NEK2	4751	HP:0000135	Hypogonadism
ORPHA:791	NEK2	4751	HP:0000602	Ophthalmoplegia
ORPHA:791	NEK2	4751	HP:0000618	Blindness
ORPHA:791	NEK2	4751	HP:0000987	Atypical scarring of skin
ORPHA:791	NEK2	4751	HP:0000639	Nystagmus
ORPHA:791	NEK2	4751	HP:0000648	Optic atrophy
ORPHA:791	NEK2	4751	HP:0000405	Conductive hearing impairment
ORPHA:791	NEK2	4751	HP:0001513	Obesity
ORPHA:791	NEK2	4751	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	NEK2	4751	HP:0000842	Hyperinsulinemia
ORPHA:791	NEK2	4751	HP:0000407	Sensorineural hearing impairment
ORPHA:791	NEK2	4751	HP:0000463	Anteverted nares
ORPHA:791	NEK2	4751	HP:0000501	Glaucoma
ORPHA:791	NEK2	4751	HP:0000035	Abnormality of the testis
ORPHA:791	NEK2	4751	HP:0008736	Hypoplasia of penis
ORPHA:791	NEK2	4751	HP:0007675	Progressive night blindness
ORPHA:791	NEK2	4751	HP:0000518	Cataract
ORPHA:791	NEK2	4751	HP:0000563	Keratoconus
ORPHA:791	NEK2	4751	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	NEK2	4751	HP:0000431	Wide nasal bridge
ORPHA:791	NEK2	4751	HP:0000512	Abnormal electroretinogram
ORPHA:791	NEK2	4751	HP:0001249	Intellectual disability
ORPHA:791	NEK2	4751	HP:0000613	Photophobia
ORPHA:791	ARL2BP	23568	HP:0000135	Hypogonadism
ORPHA:791	ARL2BP	23568	HP:0000602	Ophthalmoplegia
ORPHA:791	ARL2BP	23568	HP:0000618	Blindness
ORPHA:791	ARL2BP	23568	HP:0000987	Atypical scarring of skin
ORPHA:791	ARL2BP	23568	HP:0000639	Nystagmus
ORPHA:791	ARL2BP	23568	HP:0000648	Optic atrophy
ORPHA:791	ARL2BP	23568	HP:0000405	Conductive hearing impairment
ORPHA:791	ARL2BP	23568	HP:0001513	Obesity
ORPHA:791	ARL2BP	23568	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ARL2BP	23568	HP:0000842	Hyperinsulinemia
ORPHA:791	ARL2BP	23568	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ARL2BP	23568	HP:0000463	Anteverted nares
ORPHA:791	ARL2BP	23568	HP:0000501	Glaucoma
ORPHA:791	ARL2BP	23568	HP:0000035	Abnormality of the testis
ORPHA:791	ARL2BP	23568	HP:0008736	Hypoplasia of penis
ORPHA:791	ARL2BP	23568	HP:0007675	Progressive night blindness
ORPHA:791	ARL2BP	23568	HP:0000518	Cataract
ORPHA:791	ARL2BP	23568	HP:0000563	Keratoconus
ORPHA:791	ARL2BP	23568	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ARL2BP	23568	HP:0000431	Wide nasal bridge
ORPHA:791	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
ORPHA:791	ARL2BP	23568	HP:0001249	Intellectual disability
ORPHA:791	ARL2BP	23568	HP:0000613	Photophobia
ORPHA:791	NR2E3	10002	HP:0000135	Hypogonadism
ORPHA:791	NR2E3	10002	HP:0000602	Ophthalmoplegia
ORPHA:791	NR2E3	10002	HP:0000618	Blindness
ORPHA:791	NR2E3	10002	HP:0000987	Atypical scarring of skin
ORPHA:791	NR2E3	10002	HP:0000639	Nystagmus
ORPHA:791	NR2E3	10002	HP:0000648	Optic atrophy
ORPHA:791	NR2E3	10002	HP:0000405	Conductive hearing impairment
ORPHA:791	NR2E3	10002	HP:0001513	Obesity
ORPHA:791	NR2E3	10002	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	NR2E3	10002	HP:0000842	Hyperinsulinemia
ORPHA:791	NR2E3	10002	HP:0000407	Sensorineural hearing impairment
ORPHA:791	NR2E3	10002	HP:0000463	Anteverted nares
ORPHA:791	NR2E3	10002	HP:0000501	Glaucoma
ORPHA:791	NR2E3	10002	HP:0000035	Abnormality of the testis
ORPHA:791	NR2E3	10002	HP:0008736	Hypoplasia of penis
ORPHA:791	NR2E3	10002	HP:0007675	Progressive night blindness
ORPHA:791	NR2E3	10002	HP:0000518	Cataract
ORPHA:791	NR2E3	10002	HP:0000563	Keratoconus
ORPHA:791	NR2E3	10002	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	NR2E3	10002	HP:0000431	Wide nasal bridge
ORPHA:791	NR2E3	10002	HP:0000512	Abnormal electroretinogram
ORPHA:791	NR2E3	10002	HP:0001249	Intellectual disability
ORPHA:791	NR2E3	10002	HP:0000613	Photophobia
ORPHA:791	EYS	346007	HP:0000135	Hypogonadism
ORPHA:791	EYS	346007	HP:0000602	Ophthalmoplegia
ORPHA:791	EYS	346007	HP:0000618	Blindness
ORPHA:791	EYS	346007	HP:0000987	Atypical scarring of skin
ORPHA:791	EYS	346007	HP:0000639	Nystagmus
ORPHA:791	EYS	346007	HP:0000648	Optic atrophy
ORPHA:791	EYS	346007	HP:0000405	Conductive hearing impairment
ORPHA:791	EYS	346007	HP:0001513	Obesity
ORPHA:791	EYS	346007	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	EYS	346007	HP:0000842	Hyperinsulinemia
ORPHA:791	EYS	346007	HP:0000407	Sensorineural hearing impairment
ORPHA:791	EYS	346007	HP:0000463	Anteverted nares
ORPHA:791	EYS	346007	HP:0000501	Glaucoma
ORPHA:791	EYS	346007	HP:0000035	Abnormality of the testis
ORPHA:791	EYS	346007	HP:0008736	Hypoplasia of penis
ORPHA:791	EYS	346007	HP:0007675	Progressive night blindness
ORPHA:791	EYS	346007	HP:0000518	Cataract
ORPHA:791	EYS	346007	HP:0000563	Keratoconus
ORPHA:791	EYS	346007	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	EYS	346007	HP:0000431	Wide nasal bridge
ORPHA:791	EYS	346007	HP:0000512	Abnormal electroretinogram
ORPHA:791	EYS	346007	HP:0001249	Intellectual disability
ORPHA:791	EYS	346007	HP:0000613	Photophobia
ORPHA:791	MAK	4117	HP:0000135	Hypogonadism
ORPHA:791	MAK	4117	HP:0000602	Ophthalmoplegia
ORPHA:791	MAK	4117	HP:0000618	Blindness
ORPHA:791	MAK	4117	HP:0000987	Atypical scarring of skin
ORPHA:791	MAK	4117	HP:0000639	Nystagmus
ORPHA:791	MAK	4117	HP:0000648	Optic atrophy
ORPHA:791	MAK	4117	HP:0000405	Conductive hearing impairment
ORPHA:791	MAK	4117	HP:0001513	Obesity
ORPHA:791	MAK	4117	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	MAK	4117	HP:0000842	Hyperinsulinemia
ORPHA:791	MAK	4117	HP:0000407	Sensorineural hearing impairment
ORPHA:791	MAK	4117	HP:0000463	Anteverted nares
ORPHA:791	MAK	4117	HP:0000501	Glaucoma
ORPHA:791	MAK	4117	HP:0000035	Abnormality of the testis
ORPHA:791	MAK	4117	HP:0008736	Hypoplasia of penis
ORPHA:791	MAK	4117	HP:0007675	Progressive night blindness
ORPHA:791	MAK	4117	HP:0000518	Cataract
ORPHA:791	MAK	4117	HP:0000563	Keratoconus
ORPHA:791	MAK	4117	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	MAK	4117	HP:0000431	Wide nasal bridge
ORPHA:791	MAK	4117	HP:0000512	Abnormal electroretinogram
ORPHA:791	MAK	4117	HP:0001249	Intellectual disability
ORPHA:791	MAK	4117	HP:0000613	Photophobia
ORPHA:791	SAG	6295	HP:0000135	Hypogonadism
ORPHA:791	SAG	6295	HP:0000602	Ophthalmoplegia
ORPHA:791	SAG	6295	HP:0000618	Blindness
ORPHA:791	SAG	6295	HP:0000987	Atypical scarring of skin
ORPHA:791	SAG	6295	HP:0000639	Nystagmus
ORPHA:791	SAG	6295	HP:0000648	Optic atrophy
ORPHA:791	SAG	6295	HP:0000405	Conductive hearing impairment
ORPHA:791	SAG	6295	HP:0001513	Obesity
ORPHA:791	SAG	6295	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SAG	6295	HP:0000842	Hyperinsulinemia
ORPHA:791	SAG	6295	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SAG	6295	HP:0000463	Anteverted nares
ORPHA:791	SAG	6295	HP:0000501	Glaucoma
ORPHA:791	SAG	6295	HP:0000035	Abnormality of the testis
ORPHA:791	SAG	6295	HP:0008736	Hypoplasia of penis
ORPHA:791	SAG	6295	HP:0007675	Progressive night blindness
ORPHA:791	SAG	6295	HP:0000518	Cataract
ORPHA:791	SAG	6295	HP:0000563	Keratoconus
ORPHA:791	SAG	6295	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SAG	6295	HP:0000431	Wide nasal bridge
ORPHA:791	SAG	6295	HP:0000512	Abnormal electroretinogram
ORPHA:791	SAG	6295	HP:0001249	Intellectual disability
ORPHA:791	SAG	6295	HP:0000613	Photophobia
ORPHA:791	ABCA4	24	HP:0000135	Hypogonadism
ORPHA:791	ABCA4	24	HP:0000602	Ophthalmoplegia
ORPHA:791	ABCA4	24	HP:0000618	Blindness
ORPHA:791	ABCA4	24	HP:0000987	Atypical scarring of skin
ORPHA:791	ABCA4	24	HP:0000639	Nystagmus
ORPHA:791	ABCA4	24	HP:0000648	Optic atrophy
ORPHA:791	ABCA4	24	HP:0000405	Conductive hearing impairment
ORPHA:791	ABCA4	24	HP:0001513	Obesity
ORPHA:791	ABCA4	24	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ABCA4	24	HP:0000842	Hyperinsulinemia
ORPHA:791	ABCA4	24	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ABCA4	24	HP:0000463	Anteverted nares
ORPHA:791	ABCA4	24	HP:0000501	Glaucoma
ORPHA:791	ABCA4	24	HP:0000035	Abnormality of the testis
ORPHA:791	ABCA4	24	HP:0008736	Hypoplasia of penis
ORPHA:791	ABCA4	24	HP:0007675	Progressive night blindness
ORPHA:791	ABCA4	24	HP:0000518	Cataract
ORPHA:791	ABCA4	24	HP:0000563	Keratoconus
ORPHA:791	ABCA4	24	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ABCA4	24	HP:0000431	Wide nasal bridge
ORPHA:791	ABCA4	24	HP:0000512	Abnormal electroretinogram
ORPHA:791	ABCA4	24	HP:0001249	Intellectual disability
ORPHA:791	ABCA4	24	HP:0000613	Photophobia
ORPHA:791	PDE6A	5145	HP:0000135	Hypogonadism
ORPHA:791	PDE6A	5145	HP:0000602	Ophthalmoplegia
ORPHA:791	PDE6A	5145	HP:0000618	Blindness
ORPHA:791	PDE6A	5145	HP:0000987	Atypical scarring of skin
ORPHA:791	PDE6A	5145	HP:0000639	Nystagmus
ORPHA:791	PDE6A	5145	HP:0000648	Optic atrophy
ORPHA:791	PDE6A	5145	HP:0000405	Conductive hearing impairment
ORPHA:791	PDE6A	5145	HP:0001513	Obesity
ORPHA:791	PDE6A	5145	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PDE6A	5145	HP:0000842	Hyperinsulinemia
ORPHA:791	PDE6A	5145	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PDE6A	5145	HP:0000463	Anteverted nares
ORPHA:791	PDE6A	5145	HP:0000501	Glaucoma
ORPHA:791	PDE6A	5145	HP:0000035	Abnormality of the testis
ORPHA:791	PDE6A	5145	HP:0008736	Hypoplasia of penis
ORPHA:791	PDE6A	5145	HP:0007675	Progressive night blindness
ORPHA:791	PDE6A	5145	HP:0000518	Cataract
ORPHA:791	PDE6A	5145	HP:0000563	Keratoconus
ORPHA:791	PDE6A	5145	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PDE6A	5145	HP:0000431	Wide nasal bridge
ORPHA:791	PDE6A	5145	HP:0000512	Abnormal electroretinogram
ORPHA:791	PDE6A	5145	HP:0001249	Intellectual disability
ORPHA:791	PDE6A	5145	HP:0000613	Photophobia
ORPHA:791	PDE6G	5148	HP:0000135	Hypogonadism
ORPHA:791	PDE6G	5148	HP:0000602	Ophthalmoplegia
ORPHA:791	PDE6G	5148	HP:0000618	Blindness
ORPHA:791	PDE6G	5148	HP:0000987	Atypical scarring of skin
ORPHA:791	PDE6G	5148	HP:0000639	Nystagmus
ORPHA:791	PDE6G	5148	HP:0000648	Optic atrophy
ORPHA:791	PDE6G	5148	HP:0000405	Conductive hearing impairment
ORPHA:791	PDE6G	5148	HP:0001513	Obesity
ORPHA:791	PDE6G	5148	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PDE6G	5148	HP:0000842	Hyperinsulinemia
ORPHA:791	PDE6G	5148	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PDE6G	5148	HP:0000463	Anteverted nares
ORPHA:791	PDE6G	5148	HP:0000501	Glaucoma
ORPHA:791	PDE6G	5148	HP:0000035	Abnormality of the testis
ORPHA:791	PDE6G	5148	HP:0008736	Hypoplasia of penis
ORPHA:791	PDE6G	5148	HP:0007675	Progressive night blindness
ORPHA:791	PDE6G	5148	HP:0000518	Cataract
ORPHA:791	PDE6G	5148	HP:0000563	Keratoconus
ORPHA:791	PDE6G	5148	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PDE6G	5148	HP:0000431	Wide nasal bridge
ORPHA:791	PDE6G	5148	HP:0000512	Abnormal electroretinogram
ORPHA:791	PDE6G	5148	HP:0001249	Intellectual disability
ORPHA:791	PDE6G	5148	HP:0000613	Photophobia
ORPHA:791	IMPDH1	3614	HP:0000135	Hypogonadism
ORPHA:791	IMPDH1	3614	HP:0000602	Ophthalmoplegia
ORPHA:791	IMPDH1	3614	HP:0000618	Blindness
ORPHA:791	IMPDH1	3614	HP:0000987	Atypical scarring of skin
ORPHA:791	IMPDH1	3614	HP:0000639	Nystagmus
ORPHA:791	IMPDH1	3614	HP:0000648	Optic atrophy
ORPHA:791	IMPDH1	3614	HP:0000405	Conductive hearing impairment
ORPHA:791	IMPDH1	3614	HP:0001513	Obesity
ORPHA:791	IMPDH1	3614	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	IMPDH1	3614	HP:0000842	Hyperinsulinemia
ORPHA:791	IMPDH1	3614	HP:0000407	Sensorineural hearing impairment
ORPHA:791	IMPDH1	3614	HP:0000463	Anteverted nares
ORPHA:791	IMPDH1	3614	HP:0000501	Glaucoma
ORPHA:791	IMPDH1	3614	HP:0000035	Abnormality of the testis
ORPHA:791	IMPDH1	3614	HP:0008736	Hypoplasia of penis
ORPHA:791	IMPDH1	3614	HP:0007675	Progressive night blindness
ORPHA:791	IMPDH1	3614	HP:0000518	Cataract
ORPHA:791	IMPDH1	3614	HP:0000563	Keratoconus
ORPHA:791	IMPDH1	3614	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	IMPDH1	3614	HP:0000431	Wide nasal bridge
ORPHA:791	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
ORPHA:791	IMPDH1	3614	HP:0001249	Intellectual disability
ORPHA:791	IMPDH1	3614	HP:0000613	Photophobia
ORPHA:791	OFD1	8481	HP:0000135	Hypogonadism
ORPHA:791	OFD1	8481	HP:0000602	Ophthalmoplegia
ORPHA:791	OFD1	8481	HP:0000618	Blindness
ORPHA:791	OFD1	8481	HP:0000987	Atypical scarring of skin
ORPHA:791	OFD1	8481	HP:0000639	Nystagmus
ORPHA:791	OFD1	8481	HP:0000648	Optic atrophy
ORPHA:791	OFD1	8481	HP:0000405	Conductive hearing impairment
ORPHA:791	OFD1	8481	HP:0001513	Obesity
ORPHA:791	OFD1	8481	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	OFD1	8481	HP:0000842	Hyperinsulinemia
ORPHA:791	OFD1	8481	HP:0000407	Sensorineural hearing impairment
ORPHA:791	OFD1	8481	HP:0000463	Anteverted nares
ORPHA:791	OFD1	8481	HP:0000501	Glaucoma
ORPHA:791	OFD1	8481	HP:0000035	Abnormality of the testis
ORPHA:791	OFD1	8481	HP:0008736	Hypoplasia of penis
ORPHA:791	OFD1	8481	HP:0007675	Progressive night blindness
ORPHA:791	OFD1	8481	HP:0000518	Cataract
ORPHA:791	OFD1	8481	HP:0000563	Keratoconus
ORPHA:791	OFD1	8481	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	OFD1	8481	HP:0000431	Wide nasal bridge
ORPHA:791	OFD1	8481	HP:0000512	Abnormal electroretinogram
ORPHA:791	OFD1	8481	HP:0001249	Intellectual disability
ORPHA:791	OFD1	8481	HP:0000613	Photophobia
ORPHA:791	GUCA1B	2979	HP:0000135	Hypogonadism
ORPHA:791	GUCA1B	2979	HP:0000602	Ophthalmoplegia
ORPHA:791	GUCA1B	2979	HP:0000618	Blindness
ORPHA:791	GUCA1B	2979	HP:0000987	Atypical scarring of skin
ORPHA:791	GUCA1B	2979	HP:0000639	Nystagmus
ORPHA:791	GUCA1B	2979	HP:0000648	Optic atrophy
ORPHA:791	GUCA1B	2979	HP:0000405	Conductive hearing impairment
ORPHA:791	GUCA1B	2979	HP:0001513	Obesity
ORPHA:791	GUCA1B	2979	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	GUCA1B	2979	HP:0000842	Hyperinsulinemia
ORPHA:791	GUCA1B	2979	HP:0000407	Sensorineural hearing impairment
ORPHA:791	GUCA1B	2979	HP:0000463	Anteverted nares
ORPHA:791	GUCA1B	2979	HP:0000501	Glaucoma
ORPHA:791	GUCA1B	2979	HP:0000035	Abnormality of the testis
ORPHA:791	GUCA1B	2979	HP:0008736	Hypoplasia of penis
ORPHA:791	GUCA1B	2979	HP:0007675	Progressive night blindness
ORPHA:791	GUCA1B	2979	HP:0000518	Cataract
ORPHA:791	GUCA1B	2979	HP:0000563	Keratoconus
ORPHA:791	GUCA1B	2979	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	GUCA1B	2979	HP:0000431	Wide nasal bridge
ORPHA:791	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
ORPHA:791	GUCA1B	2979	HP:0001249	Intellectual disability
ORPHA:791	GUCA1B	2979	HP:0000613	Photophobia
ORPHA:791	NRL	4901	HP:0000135	Hypogonadism
ORPHA:791	NRL	4901	HP:0000602	Ophthalmoplegia
ORPHA:791	NRL	4901	HP:0000618	Blindness
ORPHA:791	NRL	4901	HP:0000987	Atypical scarring of skin
ORPHA:791	NRL	4901	HP:0000639	Nystagmus
ORPHA:791	NRL	4901	HP:0000648	Optic atrophy
ORPHA:791	NRL	4901	HP:0000405	Conductive hearing impairment
ORPHA:791	NRL	4901	HP:0001513	Obesity
ORPHA:791	NRL	4901	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	NRL	4901	HP:0000842	Hyperinsulinemia
ORPHA:791	NRL	4901	HP:0000407	Sensorineural hearing impairment
ORPHA:791	NRL	4901	HP:0000463	Anteverted nares
ORPHA:791	NRL	4901	HP:0000501	Glaucoma
ORPHA:791	NRL	4901	HP:0000035	Abnormality of the testis
ORPHA:791	NRL	4901	HP:0008736	Hypoplasia of penis
ORPHA:791	NRL	4901	HP:0007675	Progressive night blindness
ORPHA:791	NRL	4901	HP:0000518	Cataract
ORPHA:791	NRL	4901	HP:0000563	Keratoconus
ORPHA:791	NRL	4901	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	NRL	4901	HP:0000431	Wide nasal bridge
ORPHA:791	NRL	4901	HP:0000512	Abnormal electroretinogram
ORPHA:791	NRL	4901	HP:0001249	Intellectual disability
ORPHA:791	NRL	4901	HP:0000613	Photophobia
ORPHA:791	PDE6B	5158	HP:0000135	Hypogonadism
ORPHA:791	PDE6B	5158	HP:0000602	Ophthalmoplegia
ORPHA:791	PDE6B	5158	HP:0000618	Blindness
ORPHA:791	PDE6B	5158	HP:0000987	Atypical scarring of skin
ORPHA:791	PDE6B	5158	HP:0000639	Nystagmus
ORPHA:791	PDE6B	5158	HP:0000648	Optic atrophy
ORPHA:791	PDE6B	5158	HP:0000405	Conductive hearing impairment
ORPHA:791	PDE6B	5158	HP:0001513	Obesity
ORPHA:791	PDE6B	5158	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PDE6B	5158	HP:0000842	Hyperinsulinemia
ORPHA:791	PDE6B	5158	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PDE6B	5158	HP:0000463	Anteverted nares
ORPHA:791	PDE6B	5158	HP:0000501	Glaucoma
ORPHA:791	PDE6B	5158	HP:0000035	Abnormality of the testis
ORPHA:791	PDE6B	5158	HP:0008736	Hypoplasia of penis
ORPHA:791	PDE6B	5158	HP:0007675	Progressive night blindness
ORPHA:791	PDE6B	5158	HP:0000518	Cataract
ORPHA:791	PDE6B	5158	HP:0000563	Keratoconus
ORPHA:791	PDE6B	5158	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PDE6B	5158	HP:0000431	Wide nasal bridge
ORPHA:791	PDE6B	5158	HP:0000512	Abnormal electroretinogram
ORPHA:791	PDE6B	5158	HP:0001249	Intellectual disability
ORPHA:791	PDE6B	5158	HP:0000613	Photophobia
ORPHA:791	KLHL7	55975	HP:0000135	Hypogonadism
ORPHA:791	KLHL7	55975	HP:0000602	Ophthalmoplegia
ORPHA:791	KLHL7	55975	HP:0000618	Blindness
ORPHA:791	KLHL7	55975	HP:0000987	Atypical scarring of skin
ORPHA:791	KLHL7	55975	HP:0000639	Nystagmus
ORPHA:791	KLHL7	55975	HP:0000648	Optic atrophy
ORPHA:791	KLHL7	55975	HP:0000405	Conductive hearing impairment
ORPHA:791	KLHL7	55975	HP:0001513	Obesity
ORPHA:791	KLHL7	55975	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	KLHL7	55975	HP:0000842	Hyperinsulinemia
ORPHA:791	KLHL7	55975	HP:0000407	Sensorineural hearing impairment
ORPHA:791	KLHL7	55975	HP:0000463	Anteverted nares
ORPHA:791	KLHL7	55975	HP:0000501	Glaucoma
ORPHA:791	KLHL7	55975	HP:0000035	Abnormality of the testis
ORPHA:791	KLHL7	55975	HP:0008736	Hypoplasia of penis
ORPHA:791	KLHL7	55975	HP:0007675	Progressive night blindness
ORPHA:791	KLHL7	55975	HP:0000518	Cataract
ORPHA:791	KLHL7	55975	HP:0000563	Keratoconus
ORPHA:791	KLHL7	55975	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	KLHL7	55975	HP:0000431	Wide nasal bridge
ORPHA:791	KLHL7	55975	HP:0000512	Abnormal electroretinogram
ORPHA:791	KLHL7	55975	HP:0001249	Intellectual disability
ORPHA:791	KLHL7	55975	HP:0000613	Photophobia
ORPHA:791	PRPF4	9128	HP:0000135	Hypogonadism
ORPHA:791	PRPF4	9128	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPF4	9128	HP:0000618	Blindness
ORPHA:791	PRPF4	9128	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPF4	9128	HP:0000639	Nystagmus
ORPHA:791	PRPF4	9128	HP:0000648	Optic atrophy
ORPHA:791	PRPF4	9128	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPF4	9128	HP:0001513	Obesity
ORPHA:791	PRPF4	9128	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPF4	9128	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPF4	9128	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPF4	9128	HP:0000463	Anteverted nares
ORPHA:791	PRPF4	9128	HP:0000501	Glaucoma
ORPHA:791	PRPF4	9128	HP:0000035	Abnormality of the testis
ORPHA:791	PRPF4	9128	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPF4	9128	HP:0007675	Progressive night blindness
ORPHA:791	PRPF4	9128	HP:0000518	Cataract
ORPHA:791	PRPF4	9128	HP:0000563	Keratoconus
ORPHA:791	PRPF4	9128	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPF4	9128	HP:0000431	Wide nasal bridge
ORPHA:791	PRPF4	9128	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPF4	9128	HP:0001249	Intellectual disability
ORPHA:791	PRPF4	9128	HP:0000613	Photophobia
ORPHA:791	PRPF3	9129	HP:0000135	Hypogonadism
ORPHA:791	PRPF3	9129	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPF3	9129	HP:0000618	Blindness
ORPHA:791	PRPF3	9129	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPF3	9129	HP:0000639	Nystagmus
ORPHA:791	PRPF3	9129	HP:0000648	Optic atrophy
ORPHA:791	PRPF3	9129	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPF3	9129	HP:0001513	Obesity
ORPHA:791	PRPF3	9129	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPF3	9129	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPF3	9129	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPF3	9129	HP:0000463	Anteverted nares
ORPHA:791	PRPF3	9129	HP:0000501	Glaucoma
ORPHA:791	PRPF3	9129	HP:0000035	Abnormality of the testis
ORPHA:791	PRPF3	9129	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPF3	9129	HP:0007675	Progressive night blindness
ORPHA:791	PRPF3	9129	HP:0000518	Cataract
ORPHA:791	PRPF3	9129	HP:0000563	Keratoconus
ORPHA:791	PRPF3	9129	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPF3	9129	HP:0000431	Wide nasal bridge
ORPHA:791	PRPF3	9129	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPF3	9129	HP:0001249	Intellectual disability
ORPHA:791	PRPF3	9129	HP:0000613	Photophobia
ORPHA:791	REEP6	92840	HP:0000135	Hypogonadism
ORPHA:791	REEP6	92840	HP:0000602	Ophthalmoplegia
ORPHA:791	REEP6	92840	HP:0000618	Blindness
ORPHA:791	REEP6	92840	HP:0000987	Atypical scarring of skin
ORPHA:791	REEP6	92840	HP:0000639	Nystagmus
ORPHA:791	REEP6	92840	HP:0000648	Optic atrophy
ORPHA:791	REEP6	92840	HP:0000405	Conductive hearing impairment
ORPHA:791	REEP6	92840	HP:0001513	Obesity
ORPHA:791	REEP6	92840	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	REEP6	92840	HP:0000842	Hyperinsulinemia
ORPHA:791	REEP6	92840	HP:0000407	Sensorineural hearing impairment
ORPHA:791	REEP6	92840	HP:0000463	Anteverted nares
ORPHA:791	REEP6	92840	HP:0000501	Glaucoma
ORPHA:791	REEP6	92840	HP:0000035	Abnormality of the testis
ORPHA:791	REEP6	92840	HP:0008736	Hypoplasia of penis
ORPHA:791	REEP6	92840	HP:0007675	Progressive night blindness
ORPHA:791	REEP6	92840	HP:0000518	Cataract
ORPHA:791	REEP6	92840	HP:0000563	Keratoconus
ORPHA:791	REEP6	92840	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	REEP6	92840	HP:0000431	Wide nasal bridge
ORPHA:791	REEP6	92840	HP:0000512	Abnormal electroretinogram
ORPHA:791	REEP6	92840	HP:0001249	Intellectual disability
ORPHA:791	REEP6	92840	HP:0000613	Photophobia
ORPHA:791	FAM161A	84140	HP:0000135	Hypogonadism
ORPHA:791	FAM161A	84140	HP:0000602	Ophthalmoplegia
ORPHA:791	FAM161A	84140	HP:0000618	Blindness
ORPHA:791	FAM161A	84140	HP:0000987	Atypical scarring of skin
ORPHA:791	FAM161A	84140	HP:0000639	Nystagmus
ORPHA:791	FAM161A	84140	HP:0000648	Optic atrophy
ORPHA:791	FAM161A	84140	HP:0000405	Conductive hearing impairment
ORPHA:791	FAM161A	84140	HP:0001513	Obesity
ORPHA:791	FAM161A	84140	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	FAM161A	84140	HP:0000842	Hyperinsulinemia
ORPHA:791	FAM161A	84140	HP:0000407	Sensorineural hearing impairment
ORPHA:791	FAM161A	84140	HP:0000463	Anteverted nares
ORPHA:791	FAM161A	84140	HP:0000501	Glaucoma
ORPHA:791	FAM161A	84140	HP:0000035	Abnormality of the testis
ORPHA:791	FAM161A	84140	HP:0008736	Hypoplasia of penis
ORPHA:791	FAM161A	84140	HP:0007675	Progressive night blindness
ORPHA:791	FAM161A	84140	HP:0000518	Cataract
ORPHA:791	FAM161A	84140	HP:0000563	Keratoconus
ORPHA:791	FAM161A	84140	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	FAM161A	84140	HP:0000431	Wide nasal bridge
ORPHA:791	FAM161A	84140	HP:0000512	Abnormal electroretinogram
ORPHA:791	FAM161A	84140	HP:0001249	Intellectual disability
ORPHA:791	FAM161A	84140	HP:0000613	Photophobia
ORPHA:791	IFT172	26160	HP:0000135	Hypogonadism
ORPHA:791	IFT172	26160	HP:0000602	Ophthalmoplegia
ORPHA:791	IFT172	26160	HP:0000618	Blindness
ORPHA:791	IFT172	26160	HP:0000987	Atypical scarring of skin
ORPHA:791	IFT172	26160	HP:0000639	Nystagmus
ORPHA:791	IFT172	26160	HP:0000648	Optic atrophy
ORPHA:791	IFT172	26160	HP:0000405	Conductive hearing impairment
ORPHA:791	IFT172	26160	HP:0001513	Obesity
ORPHA:791	IFT172	26160	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	IFT172	26160	HP:0000842	Hyperinsulinemia
ORPHA:791	IFT172	26160	HP:0000407	Sensorineural hearing impairment
ORPHA:791	IFT172	26160	HP:0000463	Anteverted nares
ORPHA:791	IFT172	26160	HP:0000501	Glaucoma
ORPHA:791	IFT172	26160	HP:0000035	Abnormality of the testis
ORPHA:791	IFT172	26160	HP:0008736	Hypoplasia of penis
ORPHA:791	IFT172	26160	HP:0007675	Progressive night blindness
ORPHA:791	IFT172	26160	HP:0000518	Cataract
ORPHA:791	IFT172	26160	HP:0000563	Keratoconus
ORPHA:791	IFT172	26160	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	IFT172	26160	HP:0000431	Wide nasal bridge
ORPHA:791	IFT172	26160	HP:0000512	Abnormal electroretinogram
ORPHA:791	IFT172	26160	HP:0001249	Intellectual disability
ORPHA:791	IFT172	26160	HP:0000613	Photophobia
ORPHA:791	KIZ	55857	HP:0000135	Hypogonadism
ORPHA:791	KIZ	55857	HP:0000602	Ophthalmoplegia
ORPHA:791	KIZ	55857	HP:0000618	Blindness
ORPHA:791	KIZ	55857	HP:0000987	Atypical scarring of skin
ORPHA:791	KIZ	55857	HP:0000639	Nystagmus
ORPHA:791	KIZ	55857	HP:0000648	Optic atrophy
ORPHA:791	KIZ	55857	HP:0000405	Conductive hearing impairment
ORPHA:791	KIZ	55857	HP:0001513	Obesity
ORPHA:791	KIZ	55857	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	KIZ	55857	HP:0000842	Hyperinsulinemia
ORPHA:791	KIZ	55857	HP:0000407	Sensorineural hearing impairment
ORPHA:791	KIZ	55857	HP:0000463	Anteverted nares
ORPHA:791	KIZ	55857	HP:0000501	Glaucoma
ORPHA:791	KIZ	55857	HP:0000035	Abnormality of the testis
ORPHA:791	KIZ	55857	HP:0008736	Hypoplasia of penis
ORPHA:791	KIZ	55857	HP:0007675	Progressive night blindness
ORPHA:791	KIZ	55857	HP:0000518	Cataract
ORPHA:791	KIZ	55857	HP:0000563	Keratoconus
ORPHA:791	KIZ	55857	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	KIZ	55857	HP:0000431	Wide nasal bridge
ORPHA:791	KIZ	55857	HP:0000512	Abnormal electroretinogram
ORPHA:791	KIZ	55857	HP:0001249	Intellectual disability
ORPHA:791	KIZ	55857	HP:0000613	Photophobia
ORPHA:791	CDHR1	92211	HP:0000135	Hypogonadism
ORPHA:791	CDHR1	92211	HP:0000602	Ophthalmoplegia
ORPHA:791	CDHR1	92211	HP:0000618	Blindness
ORPHA:791	CDHR1	92211	HP:0000987	Atypical scarring of skin
ORPHA:791	CDHR1	92211	HP:0000639	Nystagmus
ORPHA:791	CDHR1	92211	HP:0000648	Optic atrophy
ORPHA:791	CDHR1	92211	HP:0000405	Conductive hearing impairment
ORPHA:791	CDHR1	92211	HP:0001513	Obesity
ORPHA:791	CDHR1	92211	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CDHR1	92211	HP:0000842	Hyperinsulinemia
ORPHA:791	CDHR1	92211	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CDHR1	92211	HP:0000463	Anteverted nares
ORPHA:791	CDHR1	92211	HP:0000501	Glaucoma
ORPHA:791	CDHR1	92211	HP:0000035	Abnormality of the testis
ORPHA:791	CDHR1	92211	HP:0008736	Hypoplasia of penis
ORPHA:791	CDHR1	92211	HP:0007675	Progressive night blindness
ORPHA:791	CDHR1	92211	HP:0000518	Cataract
ORPHA:791	CDHR1	92211	HP:0000563	Keratoconus
ORPHA:791	CDHR1	92211	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CDHR1	92211	HP:0000431	Wide nasal bridge
ORPHA:791	CDHR1	92211	HP:0000512	Abnormal electroretinogram
ORPHA:791	CDHR1	92211	HP:0001249	Intellectual disability
ORPHA:791	CDHR1	92211	HP:0000613	Photophobia
ORPHA:791	ZNF408	79797	HP:0000135	Hypogonadism
ORPHA:791	ZNF408	79797	HP:0000602	Ophthalmoplegia
ORPHA:791	ZNF408	79797	HP:0000618	Blindness
ORPHA:791	ZNF408	79797	HP:0000987	Atypical scarring of skin
ORPHA:791	ZNF408	79797	HP:0000639	Nystagmus
ORPHA:791	ZNF408	79797	HP:0000648	Optic atrophy
ORPHA:791	ZNF408	79797	HP:0000405	Conductive hearing impairment
ORPHA:791	ZNF408	79797	HP:0001513	Obesity
ORPHA:791	ZNF408	79797	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ZNF408	79797	HP:0000842	Hyperinsulinemia
ORPHA:791	ZNF408	79797	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ZNF408	79797	HP:0000463	Anteverted nares
ORPHA:791	ZNF408	79797	HP:0000501	Glaucoma
ORPHA:791	ZNF408	79797	HP:0000035	Abnormality of the testis
ORPHA:791	ZNF408	79797	HP:0008736	Hypoplasia of penis
ORPHA:791	ZNF408	79797	HP:0007675	Progressive night blindness
ORPHA:791	ZNF408	79797	HP:0000518	Cataract
ORPHA:791	ZNF408	79797	HP:0000563	Keratoconus
ORPHA:791	ZNF408	79797	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ZNF408	79797	HP:0000431	Wide nasal bridge
ORPHA:791	ZNF408	79797	HP:0000512	Abnormal electroretinogram
ORPHA:791	ZNF408	79797	HP:0001249	Intellectual disability
ORPHA:791	ZNF408	79797	HP:0000613	Photophobia
ORPHA:791	RBP3	5949	HP:0000135	Hypogonadism
ORPHA:791	RBP3	5949	HP:0000602	Ophthalmoplegia
ORPHA:791	RBP3	5949	HP:0000618	Blindness
ORPHA:791	RBP3	5949	HP:0000987	Atypical scarring of skin
ORPHA:791	RBP3	5949	HP:0000639	Nystagmus
ORPHA:791	RBP3	5949	HP:0000648	Optic atrophy
ORPHA:791	RBP3	5949	HP:0000405	Conductive hearing impairment
ORPHA:791	RBP3	5949	HP:0001513	Obesity
ORPHA:791	RBP3	5949	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RBP3	5949	HP:0000842	Hyperinsulinemia
ORPHA:791	RBP3	5949	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RBP3	5949	HP:0000463	Anteverted nares
ORPHA:791	RBP3	5949	HP:0000501	Glaucoma
ORPHA:791	RBP3	5949	HP:0000035	Abnormality of the testis
ORPHA:791	RBP3	5949	HP:0008736	Hypoplasia of penis
ORPHA:791	RBP3	5949	HP:0007675	Progressive night blindness
ORPHA:791	RBP3	5949	HP:0000518	Cataract
ORPHA:791	RBP3	5949	HP:0000563	Keratoconus
ORPHA:791	RBP3	5949	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RBP3	5949	HP:0000431	Wide nasal bridge
ORPHA:791	RBP3	5949	HP:0000512	Abnormal electroretinogram
ORPHA:791	RBP3	5949	HP:0001249	Intellectual disability
ORPHA:791	RBP3	5949	HP:0000613	Photophobia
ORPHA:791	HGSNAT	138050	HP:0000135	Hypogonadism
ORPHA:791	HGSNAT	138050	HP:0000602	Ophthalmoplegia
ORPHA:791	HGSNAT	138050	HP:0000618	Blindness
ORPHA:791	HGSNAT	138050	HP:0000987	Atypical scarring of skin
ORPHA:791	HGSNAT	138050	HP:0000639	Nystagmus
ORPHA:791	HGSNAT	138050	HP:0000648	Optic atrophy
ORPHA:791	HGSNAT	138050	HP:0000405	Conductive hearing impairment
ORPHA:791	HGSNAT	138050	HP:0001513	Obesity
ORPHA:791	HGSNAT	138050	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	HGSNAT	138050	HP:0000842	Hyperinsulinemia
ORPHA:791	HGSNAT	138050	HP:0000407	Sensorineural hearing impairment
ORPHA:791	HGSNAT	138050	HP:0000463	Anteverted nares
ORPHA:791	HGSNAT	138050	HP:0000501	Glaucoma
ORPHA:791	HGSNAT	138050	HP:0000035	Abnormality of the testis
ORPHA:791	HGSNAT	138050	HP:0008736	Hypoplasia of penis
ORPHA:791	HGSNAT	138050	HP:0007675	Progressive night blindness
ORPHA:791	HGSNAT	138050	HP:0000518	Cataract
ORPHA:791	HGSNAT	138050	HP:0000563	Keratoconus
ORPHA:791	HGSNAT	138050	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	HGSNAT	138050	HP:0000431	Wide nasal bridge
ORPHA:791	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
ORPHA:791	HGSNAT	138050	HP:0001249	Intellectual disability
ORPHA:791	HGSNAT	138050	HP:0000613	Photophobia
ORPHA:791	FSCN2	25794	HP:0000135	Hypogonadism
ORPHA:791	FSCN2	25794	HP:0000602	Ophthalmoplegia
ORPHA:791	FSCN2	25794	HP:0000618	Blindness
ORPHA:791	FSCN2	25794	HP:0000987	Atypical scarring of skin
ORPHA:791	FSCN2	25794	HP:0000639	Nystagmus
ORPHA:791	FSCN2	25794	HP:0000648	Optic atrophy
ORPHA:791	FSCN2	25794	HP:0000405	Conductive hearing impairment
ORPHA:791	FSCN2	25794	HP:0001513	Obesity
ORPHA:791	FSCN2	25794	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	FSCN2	25794	HP:0000842	Hyperinsulinemia
ORPHA:791	FSCN2	25794	HP:0000407	Sensorineural hearing impairment
ORPHA:791	FSCN2	25794	HP:0000463	Anteverted nares
ORPHA:791	FSCN2	25794	HP:0000501	Glaucoma
ORPHA:791	FSCN2	25794	HP:0000035	Abnormality of the testis
ORPHA:791	FSCN2	25794	HP:0008736	Hypoplasia of penis
ORPHA:791	FSCN2	25794	HP:0007675	Progressive night blindness
ORPHA:791	FSCN2	25794	HP:0000518	Cataract
ORPHA:791	FSCN2	25794	HP:0000563	Keratoconus
ORPHA:791	FSCN2	25794	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	FSCN2	25794	HP:0000431	Wide nasal bridge
ORPHA:791	FSCN2	25794	HP:0000512	Abnormal electroretinogram
ORPHA:791	FSCN2	25794	HP:0001249	Intellectual disability
ORPHA:791	FSCN2	25794	HP:0000613	Photophobia
ORPHA:791	PRCD	768206	HP:0000135	Hypogonadism
ORPHA:791	PRCD	768206	HP:0000602	Ophthalmoplegia
ORPHA:791	PRCD	768206	HP:0000618	Blindness
ORPHA:791	PRCD	768206	HP:0000987	Atypical scarring of skin
ORPHA:791	PRCD	768206	HP:0000639	Nystagmus
ORPHA:791	PRCD	768206	HP:0000648	Optic atrophy
ORPHA:791	PRCD	768206	HP:0000405	Conductive hearing impairment
ORPHA:791	PRCD	768206	HP:0001513	Obesity
ORPHA:791	PRCD	768206	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRCD	768206	HP:0000842	Hyperinsulinemia
ORPHA:791	PRCD	768206	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRCD	768206	HP:0000463	Anteverted nares
ORPHA:791	PRCD	768206	HP:0000501	Glaucoma
ORPHA:791	PRCD	768206	HP:0000035	Abnormality of the testis
ORPHA:791	PRCD	768206	HP:0008736	Hypoplasia of penis
ORPHA:791	PRCD	768206	HP:0007675	Progressive night blindness
ORPHA:791	PRCD	768206	HP:0000518	Cataract
ORPHA:791	PRCD	768206	HP:0000563	Keratoconus
ORPHA:791	PRCD	768206	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRCD	768206	HP:0000431	Wide nasal bridge
ORPHA:791	PRCD	768206	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRCD	768206	HP:0001249	Intellectual disability
ORPHA:791	PRCD	768206	HP:0000613	Photophobia
ORPHA:791	BBS2	583	HP:0000135	Hypogonadism
ORPHA:791	BBS2	583	HP:0000602	Ophthalmoplegia
ORPHA:791	BBS2	583	HP:0000618	Blindness
ORPHA:791	BBS2	583	HP:0000987	Atypical scarring of skin
ORPHA:791	BBS2	583	HP:0000639	Nystagmus
ORPHA:791	BBS2	583	HP:0000648	Optic atrophy
ORPHA:791	BBS2	583	HP:0000405	Conductive hearing impairment
ORPHA:791	BBS2	583	HP:0001513	Obesity
ORPHA:791	BBS2	583	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	BBS2	583	HP:0000842	Hyperinsulinemia
ORPHA:791	BBS2	583	HP:0000407	Sensorineural hearing impairment
ORPHA:791	BBS2	583	HP:0000463	Anteverted nares
ORPHA:791	BBS2	583	HP:0000501	Glaucoma
ORPHA:791	BBS2	583	HP:0000035	Abnormality of the testis
ORPHA:791	BBS2	583	HP:0008736	Hypoplasia of penis
ORPHA:791	BBS2	583	HP:0007675	Progressive night blindness
ORPHA:791	BBS2	583	HP:0000518	Cataract
ORPHA:791	BBS2	583	HP:0000563	Keratoconus
ORPHA:791	BBS2	583	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	BBS2	583	HP:0000431	Wide nasal bridge
ORPHA:791	BBS2	583	HP:0000512	Abnormal electroretinogram
ORPHA:791	BBS2	583	HP:0001249	Intellectual disability
ORPHA:791	BBS2	583	HP:0000613	Photophobia
ORPHA:791	POMGNT1	55624	HP:0000135	Hypogonadism
ORPHA:791	POMGNT1	55624	HP:0000602	Ophthalmoplegia
ORPHA:791	POMGNT1	55624	HP:0000618	Blindness
ORPHA:791	POMGNT1	55624	HP:0000987	Atypical scarring of skin
ORPHA:791	POMGNT1	55624	HP:0000639	Nystagmus
ORPHA:791	POMGNT1	55624	HP:0000648	Optic atrophy
ORPHA:791	POMGNT1	55624	HP:0000405	Conductive hearing impairment
ORPHA:791	POMGNT1	55624	HP:0001513	Obesity
ORPHA:791	POMGNT1	55624	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	POMGNT1	55624	HP:0000842	Hyperinsulinemia
ORPHA:791	POMGNT1	55624	HP:0000407	Sensorineural hearing impairment
ORPHA:791	POMGNT1	55624	HP:0000463	Anteverted nares
ORPHA:791	POMGNT1	55624	HP:0000501	Glaucoma
ORPHA:791	POMGNT1	55624	HP:0000035	Abnormality of the testis
ORPHA:791	POMGNT1	55624	HP:0008736	Hypoplasia of penis
ORPHA:791	POMGNT1	55624	HP:0007675	Progressive night blindness
ORPHA:791	POMGNT1	55624	HP:0000518	Cataract
ORPHA:791	POMGNT1	55624	HP:0000563	Keratoconus
ORPHA:791	POMGNT1	55624	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	POMGNT1	55624	HP:0000431	Wide nasal bridge
ORPHA:791	POMGNT1	55624	HP:0000512	Abnormal electroretinogram
ORPHA:791	POMGNT1	55624	HP:0001249	Intellectual disability
ORPHA:791	POMGNT1	55624	HP:0000613	Photophobia
ORPHA:791	RDH12	145226	HP:0000135	Hypogonadism
ORPHA:791	RDH12	145226	HP:0000602	Ophthalmoplegia
ORPHA:791	RDH12	145226	HP:0000618	Blindness
ORPHA:791	RDH12	145226	HP:0000987	Atypical scarring of skin
ORPHA:791	RDH12	145226	HP:0000639	Nystagmus
ORPHA:791	RDH12	145226	HP:0000648	Optic atrophy
ORPHA:791	RDH12	145226	HP:0000405	Conductive hearing impairment
ORPHA:791	RDH12	145226	HP:0001513	Obesity
ORPHA:791	RDH12	145226	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RDH12	145226	HP:0000842	Hyperinsulinemia
ORPHA:791	RDH12	145226	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RDH12	145226	HP:0000463	Anteverted nares
ORPHA:791	RDH12	145226	HP:0000501	Glaucoma
ORPHA:791	RDH12	145226	HP:0000035	Abnormality of the testis
ORPHA:791	RDH12	145226	HP:0008736	Hypoplasia of penis
ORPHA:791	RDH12	145226	HP:0007675	Progressive night blindness
ORPHA:791	RDH12	145226	HP:0000518	Cataract
ORPHA:791	RDH12	145226	HP:0000563	Keratoconus
ORPHA:791	RDH12	145226	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RDH12	145226	HP:0000431	Wide nasal bridge
ORPHA:791	RDH12	145226	HP:0000512	Abnormal electroretinogram
ORPHA:791	RDH12	145226	HP:0001249	Intellectual disability
ORPHA:791	RDH12	145226	HP:0000613	Photophobia
ORPHA:791	PRPH2	5961	HP:0000135	Hypogonadism
ORPHA:791	PRPH2	5961	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPH2	5961	HP:0000618	Blindness
ORPHA:791	PRPH2	5961	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPH2	5961	HP:0000639	Nystagmus
ORPHA:791	PRPH2	5961	HP:0000648	Optic atrophy
ORPHA:791	PRPH2	5961	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPH2	5961	HP:0001513	Obesity
ORPHA:791	PRPH2	5961	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPH2	5961	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPH2	5961	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPH2	5961	HP:0000463	Anteverted nares
ORPHA:791	PRPH2	5961	HP:0000501	Glaucoma
ORPHA:791	PRPH2	5961	HP:0000035	Abnormality of the testis
ORPHA:791	PRPH2	5961	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPH2	5961	HP:0007675	Progressive night blindness
ORPHA:791	PRPH2	5961	HP:0000518	Cataract
ORPHA:791	PRPH2	5961	HP:0000563	Keratoconus
ORPHA:791	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPH2	5961	HP:0000431	Wide nasal bridge
ORPHA:791	PRPH2	5961	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPH2	5961	HP:0001249	Intellectual disability
ORPHA:791	PRPH2	5961	HP:0000613	Photophobia
ORPHA:791	DHDDS	79947	HP:0000135	Hypogonadism
ORPHA:791	DHDDS	79947	HP:0000602	Ophthalmoplegia
ORPHA:791	DHDDS	79947	HP:0000618	Blindness
ORPHA:791	DHDDS	79947	HP:0000987	Atypical scarring of skin
ORPHA:791	DHDDS	79947	HP:0000639	Nystagmus
ORPHA:791	DHDDS	79947	HP:0000648	Optic atrophy
ORPHA:791	DHDDS	79947	HP:0000405	Conductive hearing impairment
ORPHA:791	DHDDS	79947	HP:0001513	Obesity
ORPHA:791	DHDDS	79947	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	DHDDS	79947	HP:0000842	Hyperinsulinemia
ORPHA:791	DHDDS	79947	HP:0000407	Sensorineural hearing impairment
ORPHA:791	DHDDS	79947	HP:0000463	Anteverted nares
ORPHA:791	DHDDS	79947	HP:0000501	Glaucoma
ORPHA:791	DHDDS	79947	HP:0000035	Abnormality of the testis
ORPHA:791	DHDDS	79947	HP:0008736	Hypoplasia of penis
ORPHA:791	DHDDS	79947	HP:0007675	Progressive night blindness
ORPHA:791	DHDDS	79947	HP:0000518	Cataract
ORPHA:791	DHDDS	79947	HP:0000563	Keratoconus
ORPHA:791	DHDDS	79947	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	DHDDS	79947	HP:0000431	Wide nasal bridge
ORPHA:791	DHDDS	79947	HP:0000512	Abnormal electroretinogram
ORPHA:791	DHDDS	79947	HP:0001249	Intellectual disability
ORPHA:791	DHDDS	79947	HP:0000613	Photophobia
ORPHA:791	ARHGEF18	23370	HP:0000135	Hypogonadism
ORPHA:791	ARHGEF18	23370	HP:0000602	Ophthalmoplegia
ORPHA:791	ARHGEF18	23370	HP:0000618	Blindness
ORPHA:791	ARHGEF18	23370	HP:0000987	Atypical scarring of skin
ORPHA:791	ARHGEF18	23370	HP:0000639	Nystagmus
ORPHA:791	ARHGEF18	23370	HP:0000648	Optic atrophy
ORPHA:791	ARHGEF18	23370	HP:0000405	Conductive hearing impairment
ORPHA:791	ARHGEF18	23370	HP:0001513	Obesity
ORPHA:791	ARHGEF18	23370	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ARHGEF18	23370	HP:0000842	Hyperinsulinemia
ORPHA:791	ARHGEF18	23370	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ARHGEF18	23370	HP:0000463	Anteverted nares
ORPHA:791	ARHGEF18	23370	HP:0000501	Glaucoma
ORPHA:791	ARHGEF18	23370	HP:0000035	Abnormality of the testis
ORPHA:791	ARHGEF18	23370	HP:0008736	Hypoplasia of penis
ORPHA:791	ARHGEF18	23370	HP:0007675	Progressive night blindness
ORPHA:791	ARHGEF18	23370	HP:0000518	Cataract
ORPHA:791	ARHGEF18	23370	HP:0000563	Keratoconus
ORPHA:791	ARHGEF18	23370	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ARHGEF18	23370	HP:0000431	Wide nasal bridge
ORPHA:791	ARHGEF18	23370	HP:0000512	Abnormal electroretinogram
ORPHA:791	ARHGEF18	23370	HP:0001249	Intellectual disability
ORPHA:791	ARHGEF18	23370	HP:0000613	Photophobia
ORPHA:791	ROM1	6094	HP:0000135	Hypogonadism
ORPHA:791	ROM1	6094	HP:0000602	Ophthalmoplegia
ORPHA:791	ROM1	6094	HP:0000618	Blindness
ORPHA:791	ROM1	6094	HP:0000987	Atypical scarring of skin
ORPHA:791	ROM1	6094	HP:0000639	Nystagmus
ORPHA:791	ROM1	6094	HP:0000648	Optic atrophy
ORPHA:791	ROM1	6094	HP:0000405	Conductive hearing impairment
ORPHA:791	ROM1	6094	HP:0001513	Obesity
ORPHA:791	ROM1	6094	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ROM1	6094	HP:0000842	Hyperinsulinemia
ORPHA:791	ROM1	6094	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ROM1	6094	HP:0000463	Anteverted nares
ORPHA:791	ROM1	6094	HP:0000501	Glaucoma
ORPHA:791	ROM1	6094	HP:0000035	Abnormality of the testis
ORPHA:791	ROM1	6094	HP:0008736	Hypoplasia of penis
ORPHA:791	ROM1	6094	HP:0007675	Progressive night blindness
ORPHA:791	ROM1	6094	HP:0000518	Cataract
ORPHA:791	ROM1	6094	HP:0000563	Keratoconus
ORPHA:791	ROM1	6094	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ROM1	6094	HP:0000431	Wide nasal bridge
ORPHA:791	ROM1	6094	HP:0000512	Abnormal electroretinogram
ORPHA:791	ROM1	6094	HP:0001249	Intellectual disability
ORPHA:791	ROM1	6094	HP:0000613	Photophobia
ORPHA:791	C2ORF71	388939	HP:0000135	Hypogonadism
ORPHA:791	C2ORF71	388939	HP:0000602	Ophthalmoplegia
ORPHA:791	C2ORF71	388939	HP:0000618	Blindness
ORPHA:791	C2ORF71	388939	HP:0000987	Atypical scarring of skin
ORPHA:791	C2ORF71	388939	HP:0000639	Nystagmus
ORPHA:791	C2ORF71	388939	HP:0000648	Optic atrophy
ORPHA:791	C2ORF71	388939	HP:0000405	Conductive hearing impairment
ORPHA:791	C2ORF71	388939	HP:0001513	Obesity
ORPHA:791	C2ORF71	388939	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	C2ORF71	388939	HP:0000842	Hyperinsulinemia
ORPHA:791	C2ORF71	388939	HP:0000407	Sensorineural hearing impairment
ORPHA:791	C2ORF71	388939	HP:0000463	Anteverted nares
ORPHA:791	C2ORF71	388939	HP:0000501	Glaucoma
ORPHA:791	C2ORF71	388939	HP:0000035	Abnormality of the testis
ORPHA:791	C2ORF71	388939	HP:0008736	Hypoplasia of penis
ORPHA:791	C2ORF71	388939	HP:0007675	Progressive night blindness
ORPHA:791	C2ORF71	388939	HP:0000518	Cataract
ORPHA:791	C2ORF71	388939	HP:0000563	Keratoconus
ORPHA:791	C2ORF71	388939	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	C2ORF71	388939	HP:0000431	Wide nasal bridge
ORPHA:791	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
ORPHA:791	C2ORF71	388939	HP:0001249	Intellectual disability
ORPHA:791	C2ORF71	388939	HP:0000613	Photophobia
ORPHA:791	RP9	6100	HP:0000135	Hypogonadism
ORPHA:791	RP9	6100	HP:0000602	Ophthalmoplegia
ORPHA:791	RP9	6100	HP:0000618	Blindness
ORPHA:791	RP9	6100	HP:0000987	Atypical scarring of skin
ORPHA:791	RP9	6100	HP:0000639	Nystagmus
ORPHA:791	RP9	6100	HP:0000648	Optic atrophy
ORPHA:791	RP9	6100	HP:0000405	Conductive hearing impairment
ORPHA:791	RP9	6100	HP:0001513	Obesity
ORPHA:791	RP9	6100	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RP9	6100	HP:0000842	Hyperinsulinemia
ORPHA:791	RP9	6100	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RP9	6100	HP:0000463	Anteverted nares
ORPHA:791	RP9	6100	HP:0000501	Glaucoma
ORPHA:791	RP9	6100	HP:0000035	Abnormality of the testis
ORPHA:791	RP9	6100	HP:0008736	Hypoplasia of penis
ORPHA:791	RP9	6100	HP:0007675	Progressive night blindness
ORPHA:791	RP9	6100	HP:0000518	Cataract
ORPHA:791	RP9	6100	HP:0000563	Keratoconus
ORPHA:791	RP9	6100	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RP9	6100	HP:0000431	Wide nasal bridge
ORPHA:791	RP9	6100	HP:0000512	Abnormal electroretinogram
ORPHA:791	RP9	6100	HP:0001249	Intellectual disability
ORPHA:791	RP9	6100	HP:0000613	Photophobia
ORPHA:791	PRPF6	24148	HP:0000135	Hypogonadism
ORPHA:791	PRPF6	24148	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPF6	24148	HP:0000618	Blindness
ORPHA:791	PRPF6	24148	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPF6	24148	HP:0000639	Nystagmus
ORPHA:791	PRPF6	24148	HP:0000648	Optic atrophy
ORPHA:791	PRPF6	24148	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPF6	24148	HP:0001513	Obesity
ORPHA:791	PRPF6	24148	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPF6	24148	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPF6	24148	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPF6	24148	HP:0000463	Anteverted nares
ORPHA:791	PRPF6	24148	HP:0000501	Glaucoma
ORPHA:791	PRPF6	24148	HP:0000035	Abnormality of the testis
ORPHA:791	PRPF6	24148	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPF6	24148	HP:0007675	Progressive night blindness
ORPHA:791	PRPF6	24148	HP:0000518	Cataract
ORPHA:791	PRPF6	24148	HP:0000563	Keratoconus
ORPHA:791	PRPF6	24148	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPF6	24148	HP:0000431	Wide nasal bridge
ORPHA:791	PRPF6	24148	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPF6	24148	HP:0001249	Intellectual disability
ORPHA:791	PRPF6	24148	HP:0000613	Photophobia
ORPHA:791	RP1	6101	HP:0000135	Hypogonadism
ORPHA:791	RP1	6101	HP:0000602	Ophthalmoplegia
ORPHA:791	RP1	6101	HP:0000618	Blindness
ORPHA:791	RP1	6101	HP:0000987	Atypical scarring of skin
ORPHA:791	RP1	6101	HP:0000639	Nystagmus
ORPHA:791	RP1	6101	HP:0000648	Optic atrophy
ORPHA:791	RP1	6101	HP:0000405	Conductive hearing impairment
ORPHA:791	RP1	6101	HP:0001513	Obesity
ORPHA:791	RP1	6101	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RP1	6101	HP:0000842	Hyperinsulinemia
ORPHA:791	RP1	6101	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RP1	6101	HP:0000463	Anteverted nares
ORPHA:791	RP1	6101	HP:0000501	Glaucoma
ORPHA:791	RP1	6101	HP:0000035	Abnormality of the testis
ORPHA:791	RP1	6101	HP:0008736	Hypoplasia of penis
ORPHA:791	RP1	6101	HP:0007675	Progressive night blindness
ORPHA:791	RP1	6101	HP:0000518	Cataract
ORPHA:791	RP1	6101	HP:0000563	Keratoconus
ORPHA:791	RP1	6101	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RP1	6101	HP:0000431	Wide nasal bridge
ORPHA:791	RP1	6101	HP:0000512	Abnormal electroretinogram
ORPHA:791	RP1	6101	HP:0001249	Intellectual disability
ORPHA:791	RP1	6101	HP:0000613	Photophobia
ORPHA:791	RP2	6102	HP:0000135	Hypogonadism
ORPHA:791	RP2	6102	HP:0000602	Ophthalmoplegia
ORPHA:791	RP2	6102	HP:0000618	Blindness
ORPHA:791	RP2	6102	HP:0000987	Atypical scarring of skin
ORPHA:791	RP2	6102	HP:0000639	Nystagmus
ORPHA:791	RP2	6102	HP:0000648	Optic atrophy
ORPHA:791	RP2	6102	HP:0000405	Conductive hearing impairment
ORPHA:791	RP2	6102	HP:0001513	Obesity
ORPHA:791	RP2	6102	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RP2	6102	HP:0000842	Hyperinsulinemia
ORPHA:791	RP2	6102	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RP2	6102	HP:0000463	Anteverted nares
ORPHA:791	RP2	6102	HP:0000501	Glaucoma
ORPHA:791	RP2	6102	HP:0000035	Abnormality of the testis
ORPHA:791	RP2	6102	HP:0008736	Hypoplasia of penis
ORPHA:791	RP2	6102	HP:0007675	Progressive night blindness
ORPHA:791	RP2	6102	HP:0000518	Cataract
ORPHA:791	RP2	6102	HP:0000563	Keratoconus
ORPHA:791	RP2	6102	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RP2	6102	HP:0000431	Wide nasal bridge
ORPHA:791	RP2	6102	HP:0000512	Abnormal electroretinogram
ORPHA:791	RP2	6102	HP:0001249	Intellectual disability
ORPHA:791	RP2	6102	HP:0000613	Photophobia
ORPHA:791	RPGR	6103	HP:0000135	Hypogonadism
ORPHA:791	RPGR	6103	HP:0000602	Ophthalmoplegia
ORPHA:791	RPGR	6103	HP:0000618	Blindness
ORPHA:791	RPGR	6103	HP:0000987	Atypical scarring of skin
ORPHA:791	RPGR	6103	HP:0000639	Nystagmus
ORPHA:791	RPGR	6103	HP:0000648	Optic atrophy
ORPHA:791	RPGR	6103	HP:0000405	Conductive hearing impairment
ORPHA:791	RPGR	6103	HP:0001513	Obesity
ORPHA:791	RPGR	6103	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RPGR	6103	HP:0000842	Hyperinsulinemia
ORPHA:791	RPGR	6103	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RPGR	6103	HP:0000463	Anteverted nares
ORPHA:791	RPGR	6103	HP:0000501	Glaucoma
ORPHA:791	RPGR	6103	HP:0000035	Abnormality of the testis
ORPHA:791	RPGR	6103	HP:0008736	Hypoplasia of penis
ORPHA:791	RPGR	6103	HP:0007675	Progressive night blindness
ORPHA:791	RPGR	6103	HP:0000518	Cataract
ORPHA:791	RPGR	6103	HP:0000563	Keratoconus
ORPHA:791	RPGR	6103	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RPGR	6103	HP:0000431	Wide nasal bridge
ORPHA:791	RPGR	6103	HP:0000512	Abnormal electroretinogram
ORPHA:791	RPGR	6103	HP:0001249	Intellectual disability
ORPHA:791	RPGR	6103	HP:0000613	Photophobia
ORPHA:791	SEMA4A	64218	HP:0000135	Hypogonadism
ORPHA:791	SEMA4A	64218	HP:0000602	Ophthalmoplegia
ORPHA:791	SEMA4A	64218	HP:0000618	Blindness
ORPHA:791	SEMA4A	64218	HP:0000987	Atypical scarring of skin
ORPHA:791	SEMA4A	64218	HP:0000639	Nystagmus
ORPHA:791	SEMA4A	64218	HP:0000648	Optic atrophy
ORPHA:791	SEMA4A	64218	HP:0000405	Conductive hearing impairment
ORPHA:791	SEMA4A	64218	HP:0001513	Obesity
ORPHA:791	SEMA4A	64218	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SEMA4A	64218	HP:0000842	Hyperinsulinemia
ORPHA:791	SEMA4A	64218	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SEMA4A	64218	HP:0000463	Anteverted nares
ORPHA:791	SEMA4A	64218	HP:0000501	Glaucoma
ORPHA:791	SEMA4A	64218	HP:0000035	Abnormality of the testis
ORPHA:791	SEMA4A	64218	HP:0008736	Hypoplasia of penis
ORPHA:791	SEMA4A	64218	HP:0007675	Progressive night blindness
ORPHA:791	SEMA4A	64218	HP:0000518	Cataract
ORPHA:791	SEMA4A	64218	HP:0000563	Keratoconus
ORPHA:791	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SEMA4A	64218	HP:0000431	Wide nasal bridge
ORPHA:791	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
ORPHA:791	SEMA4A	64218	HP:0001249	Intellectual disability
ORPHA:791	SEMA4A	64218	HP:0000613	Photophobia
ORPHA:791	C8ORF37	157657	HP:0000135	Hypogonadism
ORPHA:791	C8ORF37	157657	HP:0000602	Ophthalmoplegia
ORPHA:791	C8ORF37	157657	HP:0000618	Blindness
ORPHA:791	C8ORF37	157657	HP:0000987	Atypical scarring of skin
ORPHA:791	C8ORF37	157657	HP:0000639	Nystagmus
ORPHA:791	C8ORF37	157657	HP:0000648	Optic atrophy
ORPHA:791	C8ORF37	157657	HP:0000405	Conductive hearing impairment
ORPHA:791	C8ORF37	157657	HP:0001513	Obesity
ORPHA:791	C8ORF37	157657	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	C8ORF37	157657	HP:0000842	Hyperinsulinemia
ORPHA:791	C8ORF37	157657	HP:0000407	Sensorineural hearing impairment
ORPHA:791	C8ORF37	157657	HP:0000463	Anteverted nares
ORPHA:791	C8ORF37	157657	HP:0000501	Glaucoma
ORPHA:791	C8ORF37	157657	HP:0000035	Abnormality of the testis
ORPHA:791	C8ORF37	157657	HP:0008736	Hypoplasia of penis
ORPHA:791	C8ORF37	157657	HP:0007675	Progressive night blindness
ORPHA:791	C8ORF37	157657	HP:0000518	Cataract
ORPHA:791	C8ORF37	157657	HP:0000563	Keratoconus
ORPHA:791	C8ORF37	157657	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	C8ORF37	157657	HP:0000431	Wide nasal bridge
ORPHA:791	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
ORPHA:791	C8ORF37	157657	HP:0001249	Intellectual disability
ORPHA:791	C8ORF37	157657	HP:0000613	Photophobia
ORPHA:791	IDH3B	3420	HP:0000135	Hypogonadism
ORPHA:791	IDH3B	3420	HP:0000602	Ophthalmoplegia
ORPHA:791	IDH3B	3420	HP:0000618	Blindness
ORPHA:791	IDH3B	3420	HP:0000987	Atypical scarring of skin
ORPHA:791	IDH3B	3420	HP:0000639	Nystagmus
ORPHA:791	IDH3B	3420	HP:0000648	Optic atrophy
ORPHA:791	IDH3B	3420	HP:0000405	Conductive hearing impairment
ORPHA:791	IDH3B	3420	HP:0001513	Obesity
ORPHA:791	IDH3B	3420	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	IDH3B	3420	HP:0000842	Hyperinsulinemia
ORPHA:791	IDH3B	3420	HP:0000407	Sensorineural hearing impairment
ORPHA:791	IDH3B	3420	HP:0000463	Anteverted nares
ORPHA:791	IDH3B	3420	HP:0000501	Glaucoma
ORPHA:791	IDH3B	3420	HP:0000035	Abnormality of the testis
ORPHA:791	IDH3B	3420	HP:0008736	Hypoplasia of penis
ORPHA:791	IDH3B	3420	HP:0007675	Progressive night blindness
ORPHA:791	IDH3B	3420	HP:0000518	Cataract
ORPHA:791	IDH3B	3420	HP:0000563	Keratoconus
ORPHA:791	IDH3B	3420	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	IDH3B	3420	HP:0000431	Wide nasal bridge
ORPHA:791	IDH3B	3420	HP:0000512	Abnormal electroretinogram
ORPHA:791	IDH3B	3420	HP:0001249	Intellectual disability
ORPHA:791	IDH3B	3420	HP:0000613	Photophobia
ORPHA:791	MERTK	10461	HP:0000135	Hypogonadism
ORPHA:791	MERTK	10461	HP:0000602	Ophthalmoplegia
ORPHA:791	MERTK	10461	HP:0000618	Blindness
ORPHA:791	MERTK	10461	HP:0000987	Atypical scarring of skin
ORPHA:791	MERTK	10461	HP:0000639	Nystagmus
ORPHA:791	MERTK	10461	HP:0000648	Optic atrophy
ORPHA:791	MERTK	10461	HP:0000405	Conductive hearing impairment
ORPHA:791	MERTK	10461	HP:0001513	Obesity
ORPHA:791	MERTK	10461	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	MERTK	10461	HP:0000842	Hyperinsulinemia
ORPHA:791	MERTK	10461	HP:0000407	Sensorineural hearing impairment
ORPHA:791	MERTK	10461	HP:0000463	Anteverted nares
ORPHA:791	MERTK	10461	HP:0000501	Glaucoma
ORPHA:791	MERTK	10461	HP:0000035	Abnormality of the testis
ORPHA:791	MERTK	10461	HP:0008736	Hypoplasia of penis
ORPHA:791	MERTK	10461	HP:0007675	Progressive night blindness
ORPHA:791	MERTK	10461	HP:0000518	Cataract
ORPHA:791	MERTK	10461	HP:0000563	Keratoconus
ORPHA:791	MERTK	10461	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	MERTK	10461	HP:0000431	Wide nasal bridge
ORPHA:791	MERTK	10461	HP:0000512	Abnormal electroretinogram
ORPHA:791	MERTK	10461	HP:0001249	Intellectual disability
ORPHA:791	MERTK	10461	HP:0000613	Photophobia
ORPHA:791	AGBL5	60509	HP:0000135	Hypogonadism
ORPHA:791	AGBL5	60509	HP:0000602	Ophthalmoplegia
ORPHA:791	AGBL5	60509	HP:0000618	Blindness
ORPHA:791	AGBL5	60509	HP:0000987	Atypical scarring of skin
ORPHA:791	AGBL5	60509	HP:0000639	Nystagmus
ORPHA:791	AGBL5	60509	HP:0000648	Optic atrophy
ORPHA:791	AGBL5	60509	HP:0000405	Conductive hearing impairment
ORPHA:791	AGBL5	60509	HP:0001513	Obesity
ORPHA:791	AGBL5	60509	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	AGBL5	60509	HP:0000842	Hyperinsulinemia
ORPHA:791	AGBL5	60509	HP:0000407	Sensorineural hearing impairment
ORPHA:791	AGBL5	60509	HP:0000463	Anteverted nares
ORPHA:791	AGBL5	60509	HP:0000501	Glaucoma
ORPHA:791	AGBL5	60509	HP:0000035	Abnormality of the testis
ORPHA:791	AGBL5	60509	HP:0008736	Hypoplasia of penis
ORPHA:791	AGBL5	60509	HP:0007675	Progressive night blindness
ORPHA:791	AGBL5	60509	HP:0000518	Cataract
ORPHA:791	AGBL5	60509	HP:0000563	Keratoconus
ORPHA:791	AGBL5	60509	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	AGBL5	60509	HP:0000431	Wide nasal bridge
ORPHA:791	AGBL5	60509	HP:0000512	Abnormal electroretinogram
ORPHA:791	AGBL5	60509	HP:0001249	Intellectual disability
ORPHA:791	AGBL5	60509	HP:0000613	Photophobia
ORPHA:791	PRPF8	10594	HP:0000135	Hypogonadism
ORPHA:791	PRPF8	10594	HP:0000602	Ophthalmoplegia
ORPHA:791	PRPF8	10594	HP:0000618	Blindness
ORPHA:791	PRPF8	10594	HP:0000987	Atypical scarring of skin
ORPHA:791	PRPF8	10594	HP:0000639	Nystagmus
ORPHA:791	PRPF8	10594	HP:0000648	Optic atrophy
ORPHA:791	PRPF8	10594	HP:0000405	Conductive hearing impairment
ORPHA:791	PRPF8	10594	HP:0001513	Obesity
ORPHA:791	PRPF8	10594	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PRPF8	10594	HP:0000842	Hyperinsulinemia
ORPHA:791	PRPF8	10594	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PRPF8	10594	HP:0000463	Anteverted nares
ORPHA:791	PRPF8	10594	HP:0000501	Glaucoma
ORPHA:791	PRPF8	10594	HP:0000035	Abnormality of the testis
ORPHA:791	PRPF8	10594	HP:0008736	Hypoplasia of penis
ORPHA:791	PRPF8	10594	HP:0007675	Progressive night blindness
ORPHA:791	PRPF8	10594	HP:0000518	Cataract
ORPHA:791	PRPF8	10594	HP:0000563	Keratoconus
ORPHA:791	PRPF8	10594	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PRPF8	10594	HP:0000431	Wide nasal bridge
ORPHA:791	PRPF8	10594	HP:0000512	Abnormal electroretinogram
ORPHA:791	PRPF8	10594	HP:0001249	Intellectual disability
ORPHA:791	PRPF8	10594	HP:0000613	Photophobia
ORPHA:791	TOPORS	10210	HP:0000135	Hypogonadism
ORPHA:791	TOPORS	10210	HP:0000602	Ophthalmoplegia
ORPHA:791	TOPORS	10210	HP:0000618	Blindness
ORPHA:791	TOPORS	10210	HP:0000987	Atypical scarring of skin
ORPHA:791	TOPORS	10210	HP:0000639	Nystagmus
ORPHA:791	TOPORS	10210	HP:0000648	Optic atrophy
ORPHA:791	TOPORS	10210	HP:0000405	Conductive hearing impairment
ORPHA:791	TOPORS	10210	HP:0001513	Obesity
ORPHA:791	TOPORS	10210	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	TOPORS	10210	HP:0000842	Hyperinsulinemia
ORPHA:791	TOPORS	10210	HP:0000407	Sensorineural hearing impairment
ORPHA:791	TOPORS	10210	HP:0000463	Anteverted nares
ORPHA:791	TOPORS	10210	HP:0000501	Glaucoma
ORPHA:791	TOPORS	10210	HP:0000035	Abnormality of the testis
ORPHA:791	TOPORS	10210	HP:0008736	Hypoplasia of penis
ORPHA:791	TOPORS	10210	HP:0007675	Progressive night blindness
ORPHA:791	TOPORS	10210	HP:0000518	Cataract
ORPHA:791	TOPORS	10210	HP:0000563	Keratoconus
ORPHA:791	TOPORS	10210	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	TOPORS	10210	HP:0000431	Wide nasal bridge
ORPHA:791	TOPORS	10210	HP:0000512	Abnormal electroretinogram
ORPHA:791	TOPORS	10210	HP:0001249	Intellectual disability
ORPHA:791	TOPORS	10210	HP:0000613	Photophobia
ORPHA:791	USH2A	7399	HP:0000135	Hypogonadism
ORPHA:791	USH2A	7399	HP:0000602	Ophthalmoplegia
ORPHA:791	USH2A	7399	HP:0000618	Blindness
ORPHA:791	USH2A	7399	HP:0000987	Atypical scarring of skin
ORPHA:791	USH2A	7399	HP:0000639	Nystagmus
ORPHA:791	USH2A	7399	HP:0000648	Optic atrophy
ORPHA:791	USH2A	7399	HP:0000405	Conductive hearing impairment
ORPHA:791	USH2A	7399	HP:0001513	Obesity
ORPHA:791	USH2A	7399	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	USH2A	7399	HP:0000842	Hyperinsulinemia
ORPHA:791	USH2A	7399	HP:0000407	Sensorineural hearing impairment
ORPHA:791	USH2A	7399	HP:0000463	Anteverted nares
ORPHA:791	USH2A	7399	HP:0000501	Glaucoma
ORPHA:791	USH2A	7399	HP:0000035	Abnormality of the testis
ORPHA:791	USH2A	7399	HP:0008736	Hypoplasia of penis
ORPHA:791	USH2A	7399	HP:0007675	Progressive night blindness
ORPHA:791	USH2A	7399	HP:0000518	Cataract
ORPHA:791	USH2A	7399	HP:0000563	Keratoconus
ORPHA:791	USH2A	7399	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	USH2A	7399	HP:0000431	Wide nasal bridge
ORPHA:791	USH2A	7399	HP:0000512	Abnormal electroretinogram
ORPHA:791	USH2A	7399	HP:0001249	Intellectual disability
ORPHA:791	USH2A	7399	HP:0000613	Photophobia
ORPHA:791	RPE65	6121	HP:0000135	Hypogonadism
ORPHA:791	RPE65	6121	HP:0000602	Ophthalmoplegia
ORPHA:791	RPE65	6121	HP:0000618	Blindness
ORPHA:791	RPE65	6121	HP:0000987	Atypical scarring of skin
ORPHA:791	RPE65	6121	HP:0000639	Nystagmus
ORPHA:791	RPE65	6121	HP:0000648	Optic atrophy
ORPHA:791	RPE65	6121	HP:0000405	Conductive hearing impairment
ORPHA:791	RPE65	6121	HP:0001513	Obesity
ORPHA:791	RPE65	6121	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RPE65	6121	HP:0000842	Hyperinsulinemia
ORPHA:791	RPE65	6121	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RPE65	6121	HP:0000463	Anteverted nares
ORPHA:791	RPE65	6121	HP:0000501	Glaucoma
ORPHA:791	RPE65	6121	HP:0000035	Abnormality of the testis
ORPHA:791	RPE65	6121	HP:0008736	Hypoplasia of penis
ORPHA:791	RPE65	6121	HP:0007675	Progressive night blindness
ORPHA:791	RPE65	6121	HP:0000518	Cataract
ORPHA:791	RPE65	6121	HP:0000563	Keratoconus
ORPHA:791	RPE65	6121	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RPE65	6121	HP:0000431	Wide nasal bridge
ORPHA:791	RPE65	6121	HP:0000512	Abnormal electroretinogram
ORPHA:791	RPE65	6121	HP:0001249	Intellectual disability
ORPHA:791	RPE65	6121	HP:0000613	Photophobia
ORPHA:791	CLRN1	7401	HP:0000135	Hypogonadism
ORPHA:791	CLRN1	7401	HP:0000602	Ophthalmoplegia
ORPHA:791	CLRN1	7401	HP:0000618	Blindness
ORPHA:791	CLRN1	7401	HP:0000987	Atypical scarring of skin
ORPHA:791	CLRN1	7401	HP:0000639	Nystagmus
ORPHA:791	CLRN1	7401	HP:0000648	Optic atrophy
ORPHA:791	CLRN1	7401	HP:0000405	Conductive hearing impairment
ORPHA:791	CLRN1	7401	HP:0001513	Obesity
ORPHA:791	CLRN1	7401	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CLRN1	7401	HP:0000842	Hyperinsulinemia
ORPHA:791	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CLRN1	7401	HP:0000463	Anteverted nares
ORPHA:791	CLRN1	7401	HP:0000501	Glaucoma
ORPHA:791	CLRN1	7401	HP:0000035	Abnormality of the testis
ORPHA:791	CLRN1	7401	HP:0008736	Hypoplasia of penis
ORPHA:791	CLRN1	7401	HP:0007675	Progressive night blindness
ORPHA:791	CLRN1	7401	HP:0000518	Cataract
ORPHA:791	CLRN1	7401	HP:0000563	Keratoconus
ORPHA:791	CLRN1	7401	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CLRN1	7401	HP:0000431	Wide nasal bridge
ORPHA:791	CLRN1	7401	HP:0000512	Abnormal electroretinogram
ORPHA:791	CLRN1	7401	HP:0001249	Intellectual disability
ORPHA:791	CLRN1	7401	HP:0000613	Photophobia
ORPHA:791	CNGB1	1258	HP:0000135	Hypogonadism
ORPHA:791	CNGB1	1258	HP:0000602	Ophthalmoplegia
ORPHA:791	CNGB1	1258	HP:0000618	Blindness
ORPHA:791	CNGB1	1258	HP:0000987	Atypical scarring of skin
ORPHA:791	CNGB1	1258	HP:0000639	Nystagmus
ORPHA:791	CNGB1	1258	HP:0000648	Optic atrophy
ORPHA:791	CNGB1	1258	HP:0000405	Conductive hearing impairment
ORPHA:791	CNGB1	1258	HP:0001513	Obesity
ORPHA:791	CNGB1	1258	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CNGB1	1258	HP:0000842	Hyperinsulinemia
ORPHA:791	CNGB1	1258	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CNGB1	1258	HP:0000463	Anteverted nares
ORPHA:791	CNGB1	1258	HP:0000501	Glaucoma
ORPHA:791	CNGB1	1258	HP:0000035	Abnormality of the testis
ORPHA:791	CNGB1	1258	HP:0008736	Hypoplasia of penis
ORPHA:791	CNGB1	1258	HP:0007675	Progressive night blindness
ORPHA:791	CNGB1	1258	HP:0000518	Cataract
ORPHA:791	CNGB1	1258	HP:0000563	Keratoconus
ORPHA:791	CNGB1	1258	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CNGB1	1258	HP:0000431	Wide nasal bridge
ORPHA:791	CNGB1	1258	HP:0000512	Abnormal electroretinogram
ORPHA:791	CNGB1	1258	HP:0001249	Intellectual disability
ORPHA:791	CNGB1	1258	HP:0000613	Photophobia
ORPHA:791	RGR	5995	HP:0000135	Hypogonadism
ORPHA:791	RGR	5995	HP:0000602	Ophthalmoplegia
ORPHA:791	RGR	5995	HP:0000618	Blindness
ORPHA:791	RGR	5995	HP:0000987	Atypical scarring of skin
ORPHA:791	RGR	5995	HP:0000639	Nystagmus
ORPHA:791	RGR	5995	HP:0000648	Optic atrophy
ORPHA:791	RGR	5995	HP:0000405	Conductive hearing impairment
ORPHA:791	RGR	5995	HP:0001513	Obesity
ORPHA:791	RGR	5995	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RGR	5995	HP:0000842	Hyperinsulinemia
ORPHA:791	RGR	5995	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RGR	5995	HP:0000463	Anteverted nares
ORPHA:791	RGR	5995	HP:0000501	Glaucoma
ORPHA:791	RGR	5995	HP:0000035	Abnormality of the testis
ORPHA:791	RGR	5995	HP:0008736	Hypoplasia of penis
ORPHA:791	RGR	5995	HP:0007675	Progressive night blindness
ORPHA:791	RGR	5995	HP:0000518	Cataract
ORPHA:791	RGR	5995	HP:0000563	Keratoconus
ORPHA:791	RGR	5995	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RGR	5995	HP:0000431	Wide nasal bridge
ORPHA:791	RGR	5995	HP:0000512	Abnormal electroretinogram
ORPHA:791	RGR	5995	HP:0001249	Intellectual disability
ORPHA:791	RGR	5995	HP:0000613	Photophobia
ORPHA:791	CNGA1	1259	HP:0000135	Hypogonadism
ORPHA:791	CNGA1	1259	HP:0000602	Ophthalmoplegia
ORPHA:791	CNGA1	1259	HP:0000618	Blindness
ORPHA:791	CNGA1	1259	HP:0000987	Atypical scarring of skin
ORPHA:791	CNGA1	1259	HP:0000639	Nystagmus
ORPHA:791	CNGA1	1259	HP:0000648	Optic atrophy
ORPHA:791	CNGA1	1259	HP:0000405	Conductive hearing impairment
ORPHA:791	CNGA1	1259	HP:0001513	Obesity
ORPHA:791	CNGA1	1259	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CNGA1	1259	HP:0000842	Hyperinsulinemia
ORPHA:791	CNGA1	1259	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CNGA1	1259	HP:0000463	Anteverted nares
ORPHA:791	CNGA1	1259	HP:0000501	Glaucoma
ORPHA:791	CNGA1	1259	HP:0000035	Abnormality of the testis
ORPHA:791	CNGA1	1259	HP:0008736	Hypoplasia of penis
ORPHA:791	CNGA1	1259	HP:0007675	Progressive night blindness
ORPHA:791	CNGA1	1259	HP:0000518	Cataract
ORPHA:791	CNGA1	1259	HP:0000563	Keratoconus
ORPHA:791	CNGA1	1259	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CNGA1	1259	HP:0000431	Wide nasal bridge
ORPHA:791	CNGA1	1259	HP:0000512	Abnormal electroretinogram
ORPHA:791	CNGA1	1259	HP:0001249	Intellectual disability
ORPHA:791	CNGA1	1259	HP:0000613	Photophobia
ORPHA:791	TUB	7275	HP:0000135	Hypogonadism
ORPHA:791	TUB	7275	HP:0000602	Ophthalmoplegia
ORPHA:791	TUB	7275	HP:0000618	Blindness
ORPHA:791	TUB	7275	HP:0000987	Atypical scarring of skin
ORPHA:791	TUB	7275	HP:0000639	Nystagmus
ORPHA:791	TUB	7275	HP:0000648	Optic atrophy
ORPHA:791	TUB	7275	HP:0000405	Conductive hearing impairment
ORPHA:791	TUB	7275	HP:0001513	Obesity
ORPHA:791	TUB	7275	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	TUB	7275	HP:0000842	Hyperinsulinemia
ORPHA:791	TUB	7275	HP:0000407	Sensorineural hearing impairment
ORPHA:791	TUB	7275	HP:0000463	Anteverted nares
ORPHA:791	TUB	7275	HP:0000501	Glaucoma
ORPHA:791	TUB	7275	HP:0000035	Abnormality of the testis
ORPHA:791	TUB	7275	HP:0008736	Hypoplasia of penis
ORPHA:791	TUB	7275	HP:0007675	Progressive night blindness
ORPHA:791	TUB	7275	HP:0000518	Cataract
ORPHA:791	TUB	7275	HP:0000563	Keratoconus
ORPHA:791	TUB	7275	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	TUB	7275	HP:0000431	Wide nasal bridge
ORPHA:791	TUB	7275	HP:0000512	Abnormal electroretinogram
ORPHA:791	TUB	7275	HP:0001249	Intellectual disability
ORPHA:791	TUB	7275	HP:0000613	Photophobia
ORPHA:791	SNRNP200	23020	HP:0000135	Hypogonadism
ORPHA:791	SNRNP200	23020	HP:0000602	Ophthalmoplegia
ORPHA:791	SNRNP200	23020	HP:0000618	Blindness
ORPHA:791	SNRNP200	23020	HP:0000987	Atypical scarring of skin
ORPHA:791	SNRNP200	23020	HP:0000639	Nystagmus
ORPHA:791	SNRNP200	23020	HP:0000648	Optic atrophy
ORPHA:791	SNRNP200	23020	HP:0000405	Conductive hearing impairment
ORPHA:791	SNRNP200	23020	HP:0001513	Obesity
ORPHA:791	SNRNP200	23020	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SNRNP200	23020	HP:0000842	Hyperinsulinemia
ORPHA:791	SNRNP200	23020	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SNRNP200	23020	HP:0000463	Anteverted nares
ORPHA:791	SNRNP200	23020	HP:0000501	Glaucoma
ORPHA:791	SNRNP200	23020	HP:0000035	Abnormality of the testis
ORPHA:791	SNRNP200	23020	HP:0008736	Hypoplasia of penis
ORPHA:791	SNRNP200	23020	HP:0007675	Progressive night blindness
ORPHA:791	SNRNP200	23020	HP:0000518	Cataract
ORPHA:791	SNRNP200	23020	HP:0000563	Keratoconus
ORPHA:791	SNRNP200	23020	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SNRNP200	23020	HP:0000431	Wide nasal bridge
ORPHA:791	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
ORPHA:791	SNRNP200	23020	HP:0001249	Intellectual disability
ORPHA:791	SNRNP200	23020	HP:0000613	Photophobia
ORPHA:791	SLC7A14	57709	HP:0000135	Hypogonadism
ORPHA:791	SLC7A14	57709	HP:0000602	Ophthalmoplegia
ORPHA:791	SLC7A14	57709	HP:0000618	Blindness
ORPHA:791	SLC7A14	57709	HP:0000987	Atypical scarring of skin
ORPHA:791	SLC7A14	57709	HP:0000639	Nystagmus
ORPHA:791	SLC7A14	57709	HP:0000648	Optic atrophy
ORPHA:791	SLC7A14	57709	HP:0000405	Conductive hearing impairment
ORPHA:791	SLC7A14	57709	HP:0001513	Obesity
ORPHA:791	SLC7A14	57709	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SLC7A14	57709	HP:0000842	Hyperinsulinemia
ORPHA:791	SLC7A14	57709	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SLC7A14	57709	HP:0000463	Anteverted nares
ORPHA:791	SLC7A14	57709	HP:0000501	Glaucoma
ORPHA:791	SLC7A14	57709	HP:0000035	Abnormality of the testis
ORPHA:791	SLC7A14	57709	HP:0008736	Hypoplasia of penis
ORPHA:791	SLC7A14	57709	HP:0007675	Progressive night blindness
ORPHA:791	SLC7A14	57709	HP:0000518	Cataract
ORPHA:791	SLC7A14	57709	HP:0000563	Keratoconus
ORPHA:791	SLC7A14	57709	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SLC7A14	57709	HP:0000431	Wide nasal bridge
ORPHA:791	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
ORPHA:791	SLC7A14	57709	HP:0001249	Intellectual disability
ORPHA:791	SLC7A14	57709	HP:0000613	Photophobia
ORPHA:791	TULP1	7287	HP:0000135	Hypogonadism
ORPHA:791	TULP1	7287	HP:0000602	Ophthalmoplegia
ORPHA:791	TULP1	7287	HP:0000618	Blindness
ORPHA:791	TULP1	7287	HP:0000987	Atypical scarring of skin
ORPHA:791	TULP1	7287	HP:0000639	Nystagmus
ORPHA:791	TULP1	7287	HP:0000648	Optic atrophy
ORPHA:791	TULP1	7287	HP:0000405	Conductive hearing impairment
ORPHA:791	TULP1	7287	HP:0001513	Obesity
ORPHA:791	TULP1	7287	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	TULP1	7287	HP:0000842	Hyperinsulinemia
ORPHA:791	TULP1	7287	HP:0000407	Sensorineural hearing impairment
ORPHA:791	TULP1	7287	HP:0000463	Anteverted nares
ORPHA:791	TULP1	7287	HP:0000501	Glaucoma
ORPHA:791	TULP1	7287	HP:0000035	Abnormality of the testis
ORPHA:791	TULP1	7287	HP:0008736	Hypoplasia of penis
ORPHA:791	TULP1	7287	HP:0007675	Progressive night blindness
ORPHA:791	TULP1	7287	HP:0000518	Cataract
ORPHA:791	TULP1	7287	HP:0000563	Keratoconus
ORPHA:791	TULP1	7287	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	TULP1	7287	HP:0000431	Wide nasal bridge
ORPHA:791	TULP1	7287	HP:0000512	Abnormal electroretinogram
ORPHA:791	TULP1	7287	HP:0001249	Intellectual disability
ORPHA:791	TULP1	7287	HP:0000613	Photophobia
ORPHA:791	RHO	6010	HP:0000135	Hypogonadism
ORPHA:791	RHO	6010	HP:0000602	Ophthalmoplegia
ORPHA:791	RHO	6010	HP:0000618	Blindness
ORPHA:791	RHO	6010	HP:0000987	Atypical scarring of skin
ORPHA:791	RHO	6010	HP:0000639	Nystagmus
ORPHA:791	RHO	6010	HP:0000648	Optic atrophy
ORPHA:791	RHO	6010	HP:0000405	Conductive hearing impairment
ORPHA:791	RHO	6010	HP:0001513	Obesity
ORPHA:791	RHO	6010	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	RHO	6010	HP:0000842	Hyperinsulinemia
ORPHA:791	RHO	6010	HP:0000407	Sensorineural hearing impairment
ORPHA:791	RHO	6010	HP:0000463	Anteverted nares
ORPHA:791	RHO	6010	HP:0000501	Glaucoma
ORPHA:791	RHO	6010	HP:0000035	Abnormality of the testis
ORPHA:791	RHO	6010	HP:0008736	Hypoplasia of penis
ORPHA:791	RHO	6010	HP:0007675	Progressive night blindness
ORPHA:791	RHO	6010	HP:0000518	Cataract
ORPHA:791	RHO	6010	HP:0000563	Keratoconus
ORPHA:791	RHO	6010	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	RHO	6010	HP:0000431	Wide nasal bridge
ORPHA:791	RHO	6010	HP:0000512	Abnormal electroretinogram
ORPHA:791	RHO	6010	HP:0001249	Intellectual disability
ORPHA:791	RHO	6010	HP:0000613	Photophobia
ORPHA:791	CA4	762	HP:0000135	Hypogonadism
ORPHA:791	CA4	762	HP:0000602	Ophthalmoplegia
ORPHA:791	CA4	762	HP:0000618	Blindness
ORPHA:791	CA4	762	HP:0000987	Atypical scarring of skin
ORPHA:791	CA4	762	HP:0000639	Nystagmus
ORPHA:791	CA4	762	HP:0000648	Optic atrophy
ORPHA:791	CA4	762	HP:0000405	Conductive hearing impairment
ORPHA:791	CA4	762	HP:0001513	Obesity
ORPHA:791	CA4	762	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CA4	762	HP:0000842	Hyperinsulinemia
ORPHA:791	CA4	762	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CA4	762	HP:0000463	Anteverted nares
ORPHA:791	CA4	762	HP:0000501	Glaucoma
ORPHA:791	CA4	762	HP:0000035	Abnormality of the testis
ORPHA:791	CA4	762	HP:0008736	Hypoplasia of penis
ORPHA:791	CA4	762	HP:0007675	Progressive night blindness
ORPHA:791	CA4	762	HP:0000518	Cataract
ORPHA:791	CA4	762	HP:0000563	Keratoconus
ORPHA:791	CA4	762	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CA4	762	HP:0000431	Wide nasal bridge
ORPHA:791	CA4	762	HP:0000512	Abnormal electroretinogram
ORPHA:791	CA4	762	HP:0001249	Intellectual disability
ORPHA:791	CA4	762	HP:0000613	Photophobia
ORPHA:791	CRB1	23418	HP:0000135	Hypogonadism
ORPHA:791	CRB1	23418	HP:0000602	Ophthalmoplegia
ORPHA:791	CRB1	23418	HP:0000618	Blindness
ORPHA:791	CRB1	23418	HP:0000987	Atypical scarring of skin
ORPHA:791	CRB1	23418	HP:0000639	Nystagmus
ORPHA:791	CRB1	23418	HP:0000648	Optic atrophy
ORPHA:791	CRB1	23418	HP:0000405	Conductive hearing impairment
ORPHA:791	CRB1	23418	HP:0001513	Obesity
ORPHA:791	CRB1	23418	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CRB1	23418	HP:0000842	Hyperinsulinemia
ORPHA:791	CRB1	23418	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CRB1	23418	HP:0000463	Anteverted nares
ORPHA:791	CRB1	23418	HP:0000501	Glaucoma
ORPHA:791	CRB1	23418	HP:0000035	Abnormality of the testis
ORPHA:791	CRB1	23418	HP:0008736	Hypoplasia of penis
ORPHA:791	CRB1	23418	HP:0007675	Progressive night blindness
ORPHA:791	CRB1	23418	HP:0000518	Cataract
ORPHA:791	CRB1	23418	HP:0000563	Keratoconus
ORPHA:791	CRB1	23418	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CRB1	23418	HP:0000431	Wide nasal bridge
ORPHA:791	CRB1	23418	HP:0000512	Abnormal electroretinogram
ORPHA:791	CRB1	23418	HP:0001249	Intellectual disability
ORPHA:791	CRB1	23418	HP:0000613	Photophobia
ORPHA:791	IMPG2	50939	HP:0000135	Hypogonadism
ORPHA:791	IMPG2	50939	HP:0000602	Ophthalmoplegia
ORPHA:791	IMPG2	50939	HP:0000618	Blindness
ORPHA:791	IMPG2	50939	HP:0000987	Atypical scarring of skin
ORPHA:791	IMPG2	50939	HP:0000639	Nystagmus
ORPHA:791	IMPG2	50939	HP:0000648	Optic atrophy
ORPHA:791	IMPG2	50939	HP:0000405	Conductive hearing impairment
ORPHA:791	IMPG2	50939	HP:0001513	Obesity
ORPHA:791	IMPG2	50939	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	IMPG2	50939	HP:0000842	Hyperinsulinemia
ORPHA:791	IMPG2	50939	HP:0000407	Sensorineural hearing impairment
ORPHA:791	IMPG2	50939	HP:0000463	Anteverted nares
ORPHA:791	IMPG2	50939	HP:0000501	Glaucoma
ORPHA:791	IMPG2	50939	HP:0000035	Abnormality of the testis
ORPHA:791	IMPG2	50939	HP:0008736	Hypoplasia of penis
ORPHA:791	IMPG2	50939	HP:0007675	Progressive night blindness
ORPHA:791	IMPG2	50939	HP:0000518	Cataract
ORPHA:791	IMPG2	50939	HP:0000563	Keratoconus
ORPHA:791	IMPG2	50939	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	IMPG2	50939	HP:0000431	Wide nasal bridge
ORPHA:791	IMPG2	50939	HP:0000512	Abnormal electroretinogram
ORPHA:791	IMPG2	50939	HP:0001249	Intellectual disability
ORPHA:791	IMPG2	50939	HP:0000613	Photophobia
ORPHA:791	ZNF513	130557	HP:0000135	Hypogonadism
ORPHA:791	ZNF513	130557	HP:0000602	Ophthalmoplegia
ORPHA:791	ZNF513	130557	HP:0000618	Blindness
ORPHA:791	ZNF513	130557	HP:0000987	Atypical scarring of skin
ORPHA:791	ZNF513	130557	HP:0000639	Nystagmus
ORPHA:791	ZNF513	130557	HP:0000648	Optic atrophy
ORPHA:791	ZNF513	130557	HP:0000405	Conductive hearing impairment
ORPHA:791	ZNF513	130557	HP:0001513	Obesity
ORPHA:791	ZNF513	130557	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	ZNF513	130557	HP:0000842	Hyperinsulinemia
ORPHA:791	ZNF513	130557	HP:0000407	Sensorineural hearing impairment
ORPHA:791	ZNF513	130557	HP:0000463	Anteverted nares
ORPHA:791	ZNF513	130557	HP:0000501	Glaucoma
ORPHA:791	ZNF513	130557	HP:0000035	Abnormality of the testis
ORPHA:791	ZNF513	130557	HP:0008736	Hypoplasia of penis
ORPHA:791	ZNF513	130557	HP:0007675	Progressive night blindness
ORPHA:791	ZNF513	130557	HP:0000518	Cataract
ORPHA:791	ZNF513	130557	HP:0000563	Keratoconus
ORPHA:791	ZNF513	130557	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	ZNF513	130557	HP:0000431	Wide nasal bridge
ORPHA:791	ZNF513	130557	HP:0000512	Abnormal electroretinogram
ORPHA:791	ZNF513	130557	HP:0001249	Intellectual disability
ORPHA:791	ZNF513	130557	HP:0000613	Photophobia
ORPHA:791	CRX	1406	HP:0000135	Hypogonadism
ORPHA:791	CRX	1406	HP:0000602	Ophthalmoplegia
ORPHA:791	CRX	1406	HP:0000618	Blindness
ORPHA:791	CRX	1406	HP:0000987	Atypical scarring of skin
ORPHA:791	CRX	1406	HP:0000639	Nystagmus
ORPHA:791	CRX	1406	HP:0000648	Optic atrophy
ORPHA:791	CRX	1406	HP:0000405	Conductive hearing impairment
ORPHA:791	CRX	1406	HP:0001513	Obesity
ORPHA:791	CRX	1406	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	CRX	1406	HP:0000842	Hyperinsulinemia
ORPHA:791	CRX	1406	HP:0000407	Sensorineural hearing impairment
ORPHA:791	CRX	1406	HP:0000463	Anteverted nares
ORPHA:791	CRX	1406	HP:0000501	Glaucoma
ORPHA:791	CRX	1406	HP:0000035	Abnormality of the testis
ORPHA:791	CRX	1406	HP:0008736	Hypoplasia of penis
ORPHA:791	CRX	1406	HP:0007675	Progressive night blindness
ORPHA:791	CRX	1406	HP:0000518	Cataract
ORPHA:791	CRX	1406	HP:0000563	Keratoconus
ORPHA:791	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	CRX	1406	HP:0000431	Wide nasal bridge
ORPHA:791	CRX	1406	HP:0000512	Abnormal electroretinogram
ORPHA:791	CRX	1406	HP:0001249	Intellectual disability
ORPHA:791	CRX	1406	HP:0000613	Photophobia
OMIM:614739	SERAC1	84947	HP:0001943	Hypoglycemia
OMIM:614739	SERAC1	84947	HP:0001290	Generalized hypotonia
OMIM:614739	SERAC1	84947	HP:0001298	Encephalopathy
OMIM:614739	SERAC1	84947	HP:0002151	Increased serum lactate
OMIM:614739	SERAC1	84947	HP:0001272	Cerebellar atrophy
OMIM:614739	SERAC1	84947	HP:0003128	Lactic acidosis
OMIM:614739	SERAC1	84947	HP:0000007	Autosomal recessive inheritance
OMIM:614739	SERAC1	84947	HP:0012444	Brain atrophy
OMIM:614739	SERAC1	84947	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:614739	SERAC1	84947	HP:0001263	Global developmental delay
OMIM:614739	SERAC1	84947	HP:0002719	Recurrent infections
OMIM:614739	SERAC1	84947	HP:0003256	Abnormality of the coagulation cascade
OMIM:614739	SERAC1	84947	HP:0001249	Intellectual disability
OMIM:614739	SERAC1	84947	HP:0003535	3-Methylglutaconic aciduria
OMIM:614739	SERAC1	84947	HP:0001332	Dystonia
OMIM:614739	SERAC1	84947	HP:0011968	Feeding difficulties
OMIM:614739	SERAC1	84947	HP:0040187	Neonatal sepsis
OMIM:614739	SERAC1	84947	HP:0001257	Spasticity
OMIM:614739	SERAC1	84947	HP:0002376	Developmental regression
OMIM:614739	SERAC1	84947	HP:0000407	Sensorineural hearing impairment
OMIM:614739	SERAC1	84947	HP:0001508	Failure to thrive
OMIM:614739	SERAC1	84947	HP:0001987	Hyperammonemia
OMIM:276820	WNT7A	7476	HP:0000218	High palate
OMIM:276820	WNT7A	7476	HP:0400004	Long ear
OMIM:276820	WNT7A	7476	HP:0003070	Elbow ankylosis
OMIM:276820	WNT7A	7476	HP:0000431	Wide nasal bridge
OMIM:276820	WNT7A	7476	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:276820	WNT7A	7476	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:276820	WNT7A	7476	HP:0000768	Pectus carinatum
OMIM:276820	WNT7A	7476	HP:0008363	Aplasia/Hypoplasia of the tarsal bones
OMIM:276820	WNT7A	7476	HP:0009104	Aplasia/Hypoplasia of the pubic bone
OMIM:276820	WNT7A	7476	HP:0010769	Pilonidal sinus
OMIM:276820	WNT7A	7476	HP:0002986	Radial bowing
OMIM:276820	WNT7A	7476	HP:0003041	Humeroradial synostosis
OMIM:276820	WNT7A	7476	HP:0002937	Hemivertebrae
OMIM:276820	WNT7A	7476	HP:0001798	Anonychia
OMIM:276820	WNT7A	7476	HP:0005474	Decreased calvarial ossification
OMIM:276820	WNT7A	7476	HP:0004231	Carpal bone aplasia
OMIM:276820	WNT7A	7476	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:276820	WNT7A	7476	HP:0006502	Aplasia/Hypoplasia involving the carpal bones
OMIM:276820	WNT7A	7476	HP:0003498	Disproportionate short stature
OMIM:276820	WNT7A	7476	HP:0006585	Congenital pseudoarthrosis of the clavicle
OMIM:276820	WNT7A	7476	HP:0001849	Foot oligodactyly
OMIM:276820	WNT7A	7476	HP:0008817	Aplastic pubic bones
OMIM:276820	WNT7A	7476	HP:0001180	Hand oligodactyly
OMIM:276820	WNT7A	7476	HP:0001773	Short foot
OMIM:276820	WNT7A	7476	HP:0000007	Autosomal recessive inheritance
OMIM:276820	WNT7A	7476	HP:0000047	Hypospadias
OMIM:276820	WNT7A	7476	HP:0005613	Aplasia/hypoplasia of the femur
OMIM:276820	WNT7A	7476	HP:0003982	Aplasia of the ulna
OMIM:276820	WNT7A	7476	HP:0002557	Hypoplastic nipples
OMIM:276820	WNT7A	7476	HP:0002984	Hypoplasia of the radius
OMIM:276820	WNT7A	7476	HP:0002990	Fibular aplasia
OMIM:276820	WNT7A	7476	HP:0000369	Low-set ears
OMIM:276820	WNT7A	7476	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:276820	WNT7A	7476	HP:0002980	Femoral bowing
OMIM:276820	WNT7A	7476	HP:0001171	Split hand
OMIM:276820	WNT7A	7476	HP:0000189	Narrow palate
OMIM:276820	WNT7A	7476	HP:0000470	Short neck
OMIM:276820	WNT7A	7476	HP:0009829	Phocomelia
OMIM:276820	WNT7A	7476	HP:0000286	Epicanthus
OMIM:276820	WNT7A	7476	HP:0002987	Elbow flexion contracture
OMIM:615752	ADGRG1	9289	HP:0001249	Intellectual disability
OMIM:615752	ADGRG1	9289	HP:0002463	Language impairment
OMIM:615752	ADGRG1	9289	HP:0001250	Seizures
OMIM:615752	ADGRG1	9289	HP:0012650	Perisylvian polymicrogyria
OMIM:615752	ADGRG1	9289	HP:0000007	Autosomal recessive inheritance
ORPHA:90348	FBLN5	10516	HP:0001582	Redundant skin
ORPHA:90348	FBLN5	10516	HP:0100678	Premature skin wrinkling
ORPHA:90348	FBLN5	10516	HP:0000293	Full cheeks
ORPHA:90348	FBLN5	10516	HP:0005692	Joint hyperflexibility
ORPHA:90348	FBLN5	10516	HP:0000316	Hypertelorism
ORPHA:90348	FBLN5	10516	HP:0005222	Bowel diverticulosis
ORPHA:90348	ELN	2006	HP:0001582	Redundant skin
ORPHA:90348	ELN	2006	HP:0100678	Premature skin wrinkling
ORPHA:90348	ELN	2006	HP:0000293	Full cheeks
ORPHA:90348	ELN	2006	HP:0005692	Joint hyperflexibility
ORPHA:90348	ELN	2006	HP:0000316	Hypertelorism
ORPHA:90348	ELN	2006	HP:0005222	Bowel diverticulosis
ORPHA:90348	ALDH18A1	5832	HP:0001582	Redundant skin
ORPHA:90348	ALDH18A1	5832	HP:0100678	Premature skin wrinkling
ORPHA:90348	ALDH18A1	5832	HP:0000293	Full cheeks
ORPHA:90348	ALDH18A1	5832	HP:0005692	Joint hyperflexibility
ORPHA:90348	ALDH18A1	5832	HP:0000316	Hypertelorism
ORPHA:90348	ALDH18A1	5832	HP:0005222	Bowel diverticulosis
OMIM:614487	AFG3L2	10939	HP:0003828	Variable expressivity
OMIM:614487	AFG3L2	10939	HP:0002069	Generalized tonic-clonic seizures
OMIM:614487	AFG3L2	10939	HP:0007141	Sensorimotor neuropathy
OMIM:614487	AFG3L2	10939	HP:0002497	Spastic ataxia
OMIM:614487	AFG3L2	10939	HP:0003202	Skeletal muscle atrophy
OMIM:614487	AFG3L2	10939	HP:0001310	Dysmetria
OMIM:614487	AFG3L2	10939	HP:0002015	Dysphagia
OMIM:614487	AFG3L2	10939	HP:0002075	Dysdiadochokinesis
OMIM:614487	AFG3L2	10939	HP:0001272	Cerebellar atrophy
OMIM:614487	AFG3L2	10939	HP:0002123	Generalized myoclonic seizures
OMIM:614487	AFG3L2	10939	HP:0000508	Ptosis
OMIM:614487	AFG3L2	10939	HP:0001324	Muscle weakness
OMIM:614487	AFG3L2	10939	HP:0001336	Myoclonus
OMIM:614487	AFG3L2	10939	HP:0001260	Dysarthria
OMIM:614487	AFG3L2	10939	HP:0002313	Spastic paraparesis
OMIM:614487	AFG3L2	10939	HP:0000657	Oculomotor apraxia
OMIM:614487	AFG3L2	10939	HP:0003593	Infantile onset
OMIM:614487	AFG3L2	10939	HP:0000007	Autosomal recessive inheritance
OMIM:614487	AFG3L2	10939	HP:0001332	Dystonia
OMIM:614487	AFG3L2	10939	HP:0003676	Progressive
OMIM:614487	AFG3L2	10939	HP:0012240	Increased intramyocellular lipid droplets
OMIM:300804	OFD1	8481	HP:0000286	Epicanthus
OMIM:300804	OFD1	8481	HP:0000494	Downslanted palpebral fissures
OMIM:300804	OFD1	8481	HP:0002007	Frontal bossing
OMIM:300804	OFD1	8481	HP:0002419	Molar tooth sign on MRI
OMIM:300804	OFD1	8481	HP:0001249	Intellectual disability
OMIM:300804	OFD1	8481	HP:0002187	Intellectual disability, profound
OMIM:300804	OFD1	8481	HP:0008872	Feeding difficulties in infancy
OMIM:300804	OFD1	8481	HP:0001263	Global developmental delay
OMIM:300804	OFD1	8481	HP:0002002	Deep philtrum
OMIM:300804	OFD1	8481	HP:0002719	Recurrent infections
OMIM:300804	OFD1	8481	HP:0012471	Thick vermilion border
OMIM:300804	OFD1	8481	HP:0001007	Hirsutism
OMIM:300804	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:300804	OFD1	8481	HP:0001510	Growth delay
OMIM:300804	OFD1	8481	HP:0000431	Wide nasal bridge
OMIM:300804	OFD1	8481	HP:0001320	Cerebellar vermis hypoplasia
OMIM:300804	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300804	OFD1	8481	HP:0000256	Macrocephaly
OMIM:300804	OFD1	8481	HP:0000369	Low-set ears
OMIM:300804	OFD1	8481	HP:0002280	Enlarged cisterna magna
OMIM:300804	OFD1	8481	HP:0100259	Postaxial polydactyly
OMIM:163800	HCN4	10021	HP:0005110	Atrial fibrillation
OMIM:163800	HCN4	10021	HP:0003577	Congenital onset
OMIM:163800	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:163800	HCN4	10021	HP:0001688	Sinus bradycardia
OMIM:163800	HCN4	10021	HP:0011704	Sick sinus syndrome
OMIM:610353	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:610353	CHRNA2	1135	HP:0001425	Heterogeneous
OMIM:610353	CHRNA2	1135	HP:0000708	Behavioral abnormality
OMIM:610353	CHRNA2	1135	HP:0001250	Seizures
OMIM:300718	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300718	FHL1	2273	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300718	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300718	FHL1	2273	HP:0002808	Kyphosis
OMIM:300718	FHL1	2273	HP:0003306	Spinal rigidity
OMIM:300718	FHL1	2273	HP:0002359	Frequent falls
OMIM:300718	FHL1	2273	HP:0003307	Hyperlordosis
OMIM:300718	FHL1	2273	HP:0003678	Rapidly progressive
OMIM:300718	FHL1	2273	HP:0003557	Increased variability in muscle fiber diameter
OMIM:300718	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300718	FHL1	2273	HP:0001417	X-linked inheritance
OMIM:300718	FHL1	2273	HP:0000470	Short neck
OMIM:300718	FHL1	2273	HP:0002650	Scoliosis
OMIM:300718	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:611943	RNF168	165918	HP:0004322	Short stature
OMIM:611943	RNF168	165918	HP:0001251	Ataxia
OMIM:611943	RNF168	165918	HP:0004315	IgG deficiency
OMIM:611943	RNF168	165918	HP:0011133	Increased sensitivity to ionizing radiation
OMIM:611943	RNF168	165918	HP:0002721	Immunodeficiency
OMIM:611943	RNF168	165918	HP:0001999	Abnormal facial shape
OMIM:611943	RNF168	165918	HP:0000007	Autosomal recessive inheritance
OMIM:611943	RNF168	165918	HP:0011342	Mild global developmental delay
OMIM:611943	RNF168	165918	HP:0000958	Dry skin
OMIM:607371	ACTB	60	HP:0000407	Sensorineural hearing impairment
OMIM:607371	ACTB	60	HP:0002751	Kyphoscoliosis
OMIM:607371	ACTB	60	HP:0001518	Small for gestational age
OMIM:607371	ACTB	60	HP:0007325	Generalized dystonia
OMIM:607371	ACTB	60	HP:0002571	Achalasia
OMIM:607371	ACTB	60	HP:0000518	Cataract
OMIM:607371	ACTB	60	HP:0000882	Hypoplastic scapulae
OMIM:607371	ACTB	60	HP:0011342	Mild global developmental delay
OMIM:607371	ACTB	60	HP:0008796	Externally rotated hips
OMIM:607371	ACTB	60	HP:0000348	High forehead
OMIM:607371	ACTB	60	HP:0000175	Cleft palate
OMIM:607371	ACTB	60	HP:0001256	Intellectual disability, mild
OMIM:607371	ACTB	60	HP:0000204	Cleft upper lip
OMIM:607371	ACTB	60	HP:0000006	Autosomal dominant inheritance
OMIM:615982	BBS4	585	HP:0001159	Syndactyly
OMIM:615982	BBS4	585	HP:0000546	Retinal degeneration
OMIM:615982	BBS4	585	HP:0001513	Obesity
OMIM:615982	BBS4	585	HP:0000028	Cryptorchidism
OMIM:615982	BBS4	585	HP:0000662	Nyctalopia
OMIM:615982	BBS4	585	HP:0010442	Polydactyly
OMIM:615982	BBS4	585	HP:0000107	Renal cyst
OMIM:615982	BBS4	585	HP:0001156	Brachydactyly
OMIM:615982	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS4	585	HP:0000135	Hypogonadism
OMIM:615982	BBS4	585	HP:0000007	Autosomal recessive inheritance
OMIM:615982	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:614076	DTNBP1	84062	HP:0000978	Bruising susceptibility
OMIM:614076	DTNBP1	84062	HP:0003540	Impaired platelet aggregation
OMIM:614076	DTNBP1	84062	HP:0001107	Ocular albinism
OMIM:614076	DTNBP1	84062	HP:0000007	Autosomal recessive inheritance
OMIM:614076	DTNBP1	84062	HP:0007663	Reduced visual acuity
OMIM:614076	DTNBP1	84062	HP:0000505	Visual impairment
OMIM:614076	DTNBP1	84062	HP:0000421	Epistaxis
OMIM:614076	DTNBP1	84062	HP:0000639	Nystagmus
OMIM:614076	DTNBP1	84062	HP:0001022	Albinism
OMIM:615369	CHD2	1106	HP:0002123	Generalized myoclonic seizures
OMIM:615369	CHD2	1106	HP:0200134	Epileptic encephalopathy
OMIM:615369	CHD2	1106	HP:0000006	Autosomal dominant inheritance
OMIM:615369	CHD2	1106	HP:0002353	EEG abnormality
OMIM:615369	CHD2	1106	HP:0002121	Absence seizures
OMIM:615369	CHD2	1106	HP:0002373	Febrile seizures
OMIM:615369	CHD2	1106	HP:0010819	Atonic seizures
OMIM:615369	CHD2	1106	HP:0002133	Status epilepticus
OMIM:615369	CHD2	1106	HP:0002376	Developmental regression
OMIM:615369	CHD2	1106	HP:0001263	Global developmental delay
OMIM:615369	CHD2	1106	HP:0001249	Intellectual disability
ORPHA:2774	MAFB	9935	HP:0001376	Limitation of joint mobility
ORPHA:2774	MAFB	9935	HP:0001225	Wrist swelling
ORPHA:2774	MAFB	9935	HP:0003100	Slender long bone
ORPHA:2774	MAFB	9935	HP:0000112	Nephropathy
ORPHA:2774	MAFB	9935	HP:0001495	Carpal osteolysis
ORPHA:2774	MAFB	9935	HP:0000093	Proteinuria
ORPHA:2774	MAFB	9935	HP:0000325	Triangular face
ORPHA:2774	MAFB	9935	HP:0000520	Proptosis
ORPHA:2774	MAFB	9935	HP:0001504	Metacarpal osteolysis
ORPHA:2774	MAFB	9935	HP:0100490	Camptodactyly of finger
ORPHA:2774	MAFB	9935	HP:0003457	EMG abnormality
ORPHA:2774	MAFB	9935	HP:0004326	Cachexia
ORPHA:2774	MAFB	9935	HP:0001288	Gait disturbance
ORPHA:2774	MAFB	9935	HP:0000347	Micrognathia
OMIM:277450	GGCX	2677	HP:0000007	Autosomal recessive inheritance
OMIM:277450	GGCX	2677	HP:0005261	Joint hemorrhage
OMIM:277450	GGCX	2677	HP:0010655	Epiphyseal stippling
OMIM:277450	GGCX	2677	HP:0000978	Bruising susceptibility
OMIM:277450	GGCX	2677	HP:0009882	Short distal phalanx of finger
OMIM:277450	GGCX	2677	HP:0000421	Epistaxis
OMIM:277450	GGCX	2677	HP:0001892	Abnormal bleeding
OMIM:277450	GGCX	2677	HP:0003196	Short nose
OMIM:277450	GGCX	2677	HP:0003645	Prolonged partial thromboplastin time
OMIM:125800	AQP2	359	HP:0000006	Autosomal dominant inheritance
OMIM:125800	AQP2	359	HP:0001425	Heterogeneous
OMIM:125800	AQP2	359	HP:0000737	Irritability
OMIM:125800	AQP2	359	HP:0003228	Hypernatremia
OMIM:125800	AQP2	359	HP:0000103	Polyuria
OMIM:125800	AQP2	359	HP:0002019	Constipation
OMIM:125800	AQP2	359	HP:0002013	Vomiting
OMIM:125800	AQP2	359	HP:0003623	Neonatal onset
OMIM:125800	AQP2	359	HP:0001250	Seizures
OMIM:125800	AQP2	359	HP:0004322	Short stature
OMIM:125800	AQP2	359	HP:0008872	Feeding difficulties in infancy
OMIM:125800	AQP2	359	HP:0001986	Hypertonic dehydration
OMIM:125800	AQP2	359	HP:0000021	Megacystis
OMIM:125800	AQP2	359	HP:0000007	Autosomal recessive inheritance
OMIM:125800	AQP2	359	HP:0001249	Intellectual disability
OMIM:125800	AQP2	359	HP:0001508	Failure to thrive
OMIM:125800	AQP2	359	HP:0009806	Nephrogenic diabetes insipidus
OMIM:125800	AQP2	359	HP:0001955	Unexplained fevers
OMIM:125800	AQP2	359	HP:0001959	Polydipsia
OMIM:617068	DGUOK	1716	HP:0002240	Hepatomegaly
OMIM:617068	DGUOK	1716	HP:0000007	Autosomal recessive inheritance
OMIM:617068	DGUOK	1716	HP:0001409	Portal hypertension
OMIM:617068	DGUOK	1716	HP:0001744	Splenomegaly
ORPHA:90795	CYP11B1	1584	HP:0004319	Decreased circulating aldosterone level
ORPHA:90795	CYP11B1	1584	HP:0008163	Decreased circulating cortisol level
ORPHA:90795	CYP11B1	1584	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:90795	CYP11B1	1584	HP:0001197	Abnormality of prenatal development or birth
ORPHA:90795	CYP11B1	1584	HP:0012412	Premature adrenarche
ORPHA:90795	CYP11B1	1584	HP:0008258	Congenital adrenal hyperplasia
ORPHA:90795	CYP11B1	1584	HP:0000040	Long penis
ORPHA:90795	CYP11B1	1584	HP:0000127	Renal salt wasting
ORPHA:90795	CYP11B1	1584	HP:0008665	Clitoral hypertrophy
ORPHA:90795	CYP11B1	1584	HP:0000822	Hypertension
ORPHA:90795	CYP11B1	1584	HP:0002900	Hypokalemia
ORPHA:90795	CYP11B1	1584	HP:0008726	Hypoplasia of the vagina
ORPHA:90795	CYP11B1	1584	HP:0002616	Aortic root dilatation
ORPHA:90795	CYP11B1	1584	HP:0000859	Hyperaldosteronism
ORPHA:90795	CYP11B1	1584	HP:0000840	Adrenogenital syndrome
ORPHA:90795	CYP11B1	1584	HP:0008675	Enlarged polycystic ovaries
ORPHA:90795	CYP11B1	1584	HP:0011742	Ectopic adrenal gland
ORPHA:90795	CYP11B1	1584	HP:0001007	Hirsutism
ORPHA:90795	CYP11B1	1584	HP:0030348	Increased circulating androgen level
ORPHA:90795	CYP11B1	1584	HP:0000868	Decreased fertility in females
ORPHA:90795	CYP11B1	1584	HP:0030258	Hyperpigmented genitalia
ORPHA:90795	CYP11B1	1584	HP:0004322	Short stature
ORPHA:90795	CYP11B1	1584	HP:0000939	Osteoporosis
ORPHA:90795	CYP11B1	1584	HP:0100779	Urogenital sinus anomaly
ORPHA:90795	CYP11B1	1584	HP:0002805	Accelerated bone age after puberty
ORPHA:90795	CYP11B1	1584	HP:0003351	Decreased circulating renin level
ORPHA:90795	CYP11B1	1584	HP:0011363	Abnormality of hair growth rate
ORPHA:90795	CYP11B1	1584	HP:0030014	Female sexual dysfunction
ORPHA:90795	CYP11B1	1584	HP:0003115	Abnormal EKG
ORPHA:90795	CYP11B1	1584	HP:0002750	Delayed skeletal maturation
ORPHA:90795	CYP11B1	1584	HP:0011105	Hypervolemia
ORPHA:90795	CYP11B1	1584	HP:0000063	Fused labia minora
ORPHA:90795	CYP11B1	1584	HP:0040085	Abnormal circulating aldosterone
ORPHA:90795	CYP11B1	1584	HP:0012041	Decreased fertility in males
ORPHA:90795	CYP11B1	1584	HP:0007440	Generalized hyperpigmentation
ORPHA:90795	CYP11B1	1584	HP:0000061	Ambiguous genitalia, female
ORPHA:90795	CYP11B1	1584	HP:0003154	Increased circulating ACTH level
ORPHA:90795	CYP11B1	1584	HP:0000098	Tall stature
ORPHA:90795	CYP11B1	1584	HP:0000140	Abnormality of the menstrual cycle
OMIM:300968	USP9X	8239	HP:0000175	Cleft palate
OMIM:300968	USP9X	8239	HP:0012745	Short palpebral fissure
OMIM:300968	USP9X	8239	HP:0000248	Brachycephaly
OMIM:300968	USP9X	8239	HP:0000540	Hypermetropia
OMIM:300968	USP9X	8239	HP:0000324	Facial asymmetry
OMIM:300968	USP9X	8239	HP:0000110	Renal dysplasia
OMIM:300968	USP9X	8239	HP:0003812	Phenotypic variability
OMIM:300968	USP9X	8239	HP:0000126	Hydronephrosis
OMIM:300968	USP9X	8239	HP:0000448	Prominent nose
OMIM:300968	USP9X	8239	HP:0000369	Low-set ears
OMIM:300968	USP9X	8239	HP:0002098	Respiratory distress
OMIM:300968	USP9X	8239	HP:0002827	Hip dislocation
OMIM:300968	USP9X	8239	HP:0000483	Astigmatism
OMIM:300968	USP9X	8239	HP:0000545	Myopia
OMIM:300968	USP9X	8239	HP:0001761	Pes cavus
OMIM:300968	USP9X	8239	HP:0001773	Short foot
OMIM:300968	USP9X	8239	HP:0000164	Abnormality of the dentition
OMIM:300968	USP9X	8239	HP:0001631	Atrial septal defect
OMIM:300968	USP9X	8239	HP:0000358	Posteriorly rotated ears
OMIM:300968	USP9X	8239	HP:0001182	Tapered finger
OMIM:300968	USP9X	8239	HP:0000343	Long philtrum
OMIM:300968	USP9X	8239	HP:0000486	Strabismus
OMIM:300968	USP9X	8239	HP:0001423	X-linked dominant inheritance
OMIM:300968	USP9X	8239	HP:0000319	Smooth philtrum
OMIM:300968	USP9X	8239	HP:0200055	Small hand
OMIM:300968	USP9X	8239	HP:0000518	Cataract
OMIM:300968	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300968	USP9X	8239	HP:0000341	Narrow forehead
OMIM:300968	USP9X	8239	HP:0000414	Bulbous nose
OMIM:300968	USP9X	8239	HP:0004322	Short stature
OMIM:300968	USP9X	8239	HP:0011220	Prominent forehead
OMIM:300968	USP9X	8239	HP:0001388	Joint laxity
OMIM:300968	USP9X	8239	HP:0011968	Feeding difficulties
OMIM:300968	USP9X	8239	HP:0000431	Wide nasal bridge
OMIM:300968	USP9X	8239	HP:0005280	Depressed nasal bridge
OMIM:300968	USP9X	8239	HP:0001643	Patent ductus arteriosus
OMIM:300968	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300968	USP9X	8239	HP:0000601	Hypotelorism
OMIM:613115	RETREG1	54463	HP:0000007	Autosomal recessive inheritance
OMIM:613115	RETREG1	54463	HP:0000020	Urinary incontinence
OMIM:613115	RETREG1	54463	HP:0001284	Areflexia
OMIM:613115	RETREG1	54463	HP:0001265	Hyporeflexia
OMIM:613115	RETREG1	54463	HP:0003477	Peripheral axonal neuropathy
OMIM:613115	RETREG1	54463	HP:0001257	Spasticity
OMIM:613115	RETREG1	54463	HP:0003621	Juvenile onset
OMIM:613115	RETREG1	54463	HP:0001069	Episodic hyperhidrosis
OMIM:613115	RETREG1	54463	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:613115	RETREG1	54463	HP:0002754	Osteomyelitis
OMIM:613115	RETREG1	54463	HP:0003676	Progressive
OMIM:613115	RETREG1	54463	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:602771	SELENON	57190	HP:0003700	Generalized amyotrophy
OMIM:602771	SELENON	57190	HP:0010628	Facial palsy
OMIM:602771	SELENON	57190	HP:0003593	Infantile onset
OMIM:602771	SELENON	57190	HP:0002792	Reduced vital capacity
OMIM:602771	SELENON	57190	HP:0003787	Type 1 and type 2 muscle fiber minicore regions
OMIM:602771	SELENON	57190	HP:0001547	Abnormality of the rib cage
OMIM:602771	SELENON	57190	HP:0005991	Limited neck flexion
OMIM:602771	SELENON	57190	HP:0003560	Muscular dystrophy
OMIM:602771	SELENON	57190	HP:0000007	Autosomal recessive inheritance
OMIM:602771	SELENON	57190	HP:0002421	Poor head control
OMIM:602771	SELENON	57190	HP:0003327	Axial muscle weakness
OMIM:602771	SELENON	57190	HP:0001290	Generalized hypotonia
OMIM:602771	SELENON	57190	HP:0002877	Nocturnal hypoventilation
OMIM:602771	SELENON	57190	HP:0001371	Flexion contracture
OMIM:602771	SELENON	57190	HP:0001270	Motor delay
OMIM:602771	SELENON	57190	HP:0001620	High pitched voice
OMIM:602771	SELENON	57190	HP:0003324	Generalized muscle weakness
OMIM:602771	SELENON	57190	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:602771	SELENON	57190	HP:0003306	Spinal rigidity
OMIM:602771	SELENON	57190	HP:0000218	High palate
OMIM:602771	SELENON	57190	HP:0001508	Failure to thrive
OMIM:602771	SELENON	57190	HP:0003557	Increased variability in muscle fiber diameter
OMIM:602771	SELENON	57190	HP:0001611	Nasal speech
OMIM:602771	SELENON	57190	HP:0004322	Short stature
OMIM:602771	SELENON	57190	HP:0002650	Scoliosis
OMIM:602771	SELENON	57190	HP:0003680	Nonprogressive
OMIM:181450	TBX3	6926	HP:0000049	Shawl scrotum
OMIM:181450	TBX3	6926	HP:0005792	Short humerus
OMIM:181450	TBX3	6926	HP:0003977	Deformed radius
OMIM:181450	TBX3	6926	HP:0001607	Subglottic stenosis
OMIM:181450	TBX3	6926	HP:0003186	Inverted nipples
OMIM:181450	TBX3	6926	HP:0002215	Sparse axillary hair
OMIM:181450	TBX3	6926	HP:0000823	Delayed puberty
OMIM:181450	TBX3	6926	HP:0011917	Short 5th toe
OMIM:181450	TBX3	6926	HP:0007397	Axillary apocrine gland hypoplasia
OMIM:181450	TBX3	6926	HP:0000054	Micropenis
OMIM:181450	TBX3	6926	HP:0003022	Hypoplasia of the ulna
OMIM:181450	TBX3	6926	HP:0001513	Obesity
OMIM:181450	TBX3	6926	HP:0003982	Aplasia of the ulna
OMIM:181450	TBX3	6926	HP:0001629	Ventricular septal defect
OMIM:181450	TBX3	6926	HP:0005338	Sparse lateral eyebrow
OMIM:181450	TBX3	6926	HP:0000668	Hypodontia
OMIM:181450	TBX3	6926	HP:0002984	Hypoplasia of the radius
OMIM:181450	TBX3	6926	HP:0030011	Imperforate hymen
OMIM:181450	TBX3	6926	HP:0003974	Absent radius
OMIM:181450	TBX3	6926	HP:0003187	Breast hypoplasia
OMIM:181450	TBX3	6926	HP:0000882	Hypoplastic scapulae
OMIM:181450	TBX3	6926	HP:0002025	Anal stenosis
OMIM:181450	TBX3	6926	HP:0008093	Short 4th toe
OMIM:181450	TBX3	6926	HP:0002021	Pyloric stenosis
OMIM:181450	TBX3	6926	HP:0000023	Inguinal hernia
OMIM:181450	TBX3	6926	HP:0002557	Hypoplastic nipples
OMIM:181450	TBX3	6926	HP:0000006	Autosomal dominant inheritance
OMIM:181450	TBX3	6926	HP:0010627	Anterior pituitary hypoplasia
OMIM:181450	TBX3	6926	HP:0000894	Short clavicles
OMIM:181450	TBX3	6926	HP:0011755	Ectopic posterior pituitary
OMIM:181450	TBX3	6926	HP:0001162	Postaxial hand polydactyly
OMIM:181450	TBX3	6926	HP:0002023	Anal atresia
OMIM:601954	TCAP	8557	HP:0008948	Proximal upper limb amyotrophy
OMIM:601954	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:601954	TCAP	8557	HP:0009046	Difficulty running
OMIM:601954	TCAP	8557	HP:0003557	Increased variability in muscle fiber diameter
OMIM:601954	TCAP	8557	HP:0009025	Increased connective tissue
OMIM:601954	TCAP	8557	HP:0009027	Foot dorsiflexor weakness
OMIM:601954	TCAP	8557	HP:0002355	Difficulty walking
OMIM:601954	TCAP	8557	HP:0003551	Difficulty climbing stairs
OMIM:601954	TCAP	8557	HP:0008981	Calf muscle hypertrophy
OMIM:601954	TCAP	8557	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:601954	TCAP	8557	HP:0002522	Areflexia of lower limbs
OMIM:601954	TCAP	8557	HP:0003805	Rimmed vacuoles
OMIM:601954	TCAP	8557	HP:0008997	Proximal muscle weakness in upper limbs
OMIM:601954	TCAP	8557	HP:0003560	Muscular dystrophy
OMIM:601954	TCAP	8557	HP:0008944	Distal lower limb amyotrophy
OMIM:601954	TCAP	8557	HP:0003236	Elevated serum creatine phosphokinase
OMIM:601954	TCAP	8557	HP:0009053	Distal lower limb muscle weakness
OMIM:170400	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:170400	SCN4A	6329	HP:0003829	Incomplete penetrance
OMIM:170400	SCN4A	6329	HP:0002900	Hypokalemia
OMIM:170400	SCN4A	6329	HP:0003752	Episodic flaccid weakness
OMIM:170400	SCN4A	6329	HP:0007215	Periodic hyperkalemic paralysis
OMIM:170400	CACNA1S	779	HP:0000006	Autosomal dominant inheritance
OMIM:170400	CACNA1S	779	HP:0003829	Incomplete penetrance
OMIM:170400	CACNA1S	779	HP:0002900	Hypokalemia
OMIM:170400	CACNA1S	779	HP:0003752	Episodic flaccid weakness
OMIM:170400	CACNA1S	779	HP:0007215	Periodic hyperkalemic paralysis
OMIM:605814	SLC25A13	10165	HP:0000007	Autosomal recessive inheritance
OMIM:605814	SLC25A13	10165	HP:0001394	Cirrhosis
OMIM:605814	SLC25A13	10165	HP:0001508	Failure to thrive
OMIM:605814	SLC25A13	10165	HP:0003235	Hypermethioninemia
OMIM:605814	SLC25A13	10165	HP:0002155	Hypertriglyceridemia
OMIM:605814	SLC25A13	10165	HP:0001510	Growth delay
OMIM:605814	SLC25A13	10165	HP:0002904	Hyperbilirubinemia
OMIM:605814	SLC25A13	10165	HP:0003124	Hypercholesterolemia
OMIM:605814	SLC25A13	10165	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:605814	SLC25A13	10165	HP:0001406	Intrahepatic cholestasis
OMIM:605814	SLC25A13	10165	HP:0011966	Elevated plasma citrulline
OMIM:220210	WASHC5	9897	HP:0001719	Double outlet right ventricle
OMIM:220210	WASHC5	9897	HP:0000494	Downslanted palpebral fissures
OMIM:220210	WASHC5	9897	HP:0007291	Posterior fossa cyst
OMIM:220210	WASHC5	9897	HP:0000589	Coloboma
OMIM:220210	WASHC5	9897	HP:0001290	Generalized hypotonia
OMIM:220210	WASHC5	9897	HP:0000248	Brachycephaly
OMIM:220210	WASHC5	9897	HP:0001636	Tetralogy of Fallot
OMIM:220210	WASHC5	9897	HP:0001642	Pulmonic stenosis
OMIM:220210	WASHC5	9897	HP:0001263	Global developmental delay
OMIM:220210	WASHC5	9897	HP:0000269	Prominent occiput
OMIM:220210	WASHC5	9897	HP:0000337	Broad forehead
OMIM:220210	WASHC5	9897	HP:0000835	Adrenal hypoplasia
OMIM:220210	WASHC5	9897	HP:0000007	Autosomal recessive inheritance
OMIM:220210	WASHC5	9897	HP:0001631	Atrial septal defect
OMIM:220210	WASHC5	9897	HP:0000369	Low-set ears
OMIM:220210	WASHC5	9897	HP:0002023	Anal atresia
OMIM:220210	WASHC5	9897	HP:0000348	High forehead
OMIM:220210	WASHC5	9897	HP:0000921	Missing ribs
OMIM:220210	WASHC5	9897	HP:0004383	Hypoplastic left heart
OMIM:220210	WASHC5	9897	HP:0001159	Syndactyly
OMIM:220210	WASHC5	9897	HP:0001511	Intrauterine growth retardation
OMIM:220210	WASHC5	9897	HP:0000238	Hydrocephalus
OMIM:220210	WASHC5	9897	HP:0001650	Aortic valve stenosis
OMIM:220210	WASHC5	9897	HP:0000126	Hydronephrosis
OMIM:220210	WASHC5	9897	HP:0000824	Growth hormone deficiency
OMIM:220210	WASHC5	9897	HP:0001195	Single umbilical artery
OMIM:220210	WASHC5	9897	HP:0000347	Micrognathia
OMIM:220210	WASHC5	9897	HP:0000316	Hypertelorism
OMIM:220210	WASHC5	9897	HP:0002937	Hemivertebrae
OMIM:220210	WASHC5	9897	HP:0000175	Cleft palate
OMIM:220210	WASHC5	9897	HP:0001305	Dandy-Walker malformation
OMIM:220210	WASHC5	9897	HP:0005280	Depressed nasal bridge
OMIM:220210	WASHC5	9897	HP:0001629	Ventricular septal defect
OMIM:220210	WASHC5	9897	HP:0000047	Hypospadias
OMIM:220210	WASHC5	9897	HP:0002162	Low posterior hairline
ORPHA:2059	PIGN	23556	HP:0000028	Cryptorchidism
ORPHA:2059	PIGN	23556	HP:0000161	Median cleft lip
ORPHA:2059	PIGN	23556	HP:0010804	Tented upper lip vermilion
ORPHA:2059	PIGN	23556	HP:0001250	Seizures
ORPHA:2059	PIGN	23556	HP:0001671	Abnormality of the cardiac septa
ORPHA:2059	PIGN	23556	HP:0000347	Micrognathia
ORPHA:2059	PIGN	23556	HP:0001561	Polyhydramnios
ORPHA:2059	PIGN	23556	HP:0000463	Anteverted nares
ORPHA:2059	PIGN	23556	HP:0000474	Thickened nuchal skin fold
ORPHA:2059	PIGN	23556	HP:0000218	High palate
ORPHA:2059	PIGN	23556	HP:0000316	Hypertelorism
ORPHA:2059	PIGN	23556	HP:0002120	Cerebral cortical atrophy
ORPHA:2059	PIGN	23556	HP:0000280	Coarse facial features
ORPHA:2059	PIGN	23556	HP:0000343	Long philtrum
ORPHA:2059	PIGN	23556	HP:0001274	Agenesis of corpus callosum
ORPHA:2059	PIGN	23556	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2059	PIGN	23556	HP:0009882	Short distal phalanx of finger
ORPHA:2059	PIGN	23556	HP:0000337	Broad forehead
ORPHA:2059	PIGN	23556	HP:0001636	Tetralogy of Fallot
ORPHA:2059	PIGN	23556	HP:0000470	Short neck
ORPHA:2059	PIGN	23556	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2059	PIGN	23556	HP:0000776	Congenital diaphragmatic hernia
ORPHA:2059	PIGN	23556	HP:0002089	Pulmonary hypoplasia
ORPHA:2059	PIGN	23556	HP:0011344	Severe global developmental delay
ORPHA:2059	PIGN	23556	HP:0007957	Corneal opacity
ORPHA:2059	PIGN	23556	HP:0000431	Wide nasal bridge
ORPHA:2059	PIGN	23556	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHA:2059	PIGN	23556	HP:0100335	Non-midline cleft lip
ORPHA:2059	PIGN	23556	HP:0001804	Hypoplastic fingernail
ORPHA:2059	PIGN	23556	HP:0000003	Multicystic kidney dysplasia
ORPHA:2059	PIGN	23556	HP:0006610	Wide intermamillary distance
ORPHA:2059	PIGN	23556	HP:0000154	Wide mouth
ORPHA:2059	PIGN	23556	HP:0000175	Cleft palate
ORPHA:2059	PIGN	23556	HP:0001249	Intellectual disability
OMIM:300934	SSR4	6748	HP:0001419	X-linked recessive inheritance
OMIM:300934	SSR4	6748	HP:0002650	Scoliosis
OMIM:300934	SSR4	6748	HP:0001249	Intellectual disability
OMIM:300934	SSR4	6748	HP:0000486	Strabismus
OMIM:300934	SSR4	6748	HP:0001250	Seizures
OMIM:300934	SSR4	6748	HP:0000687	Widely spaced teeth
OMIM:300934	SSR4	6748	HP:0001373	Joint dislocation
OMIM:300934	SSR4	6748	HP:0001263	Global developmental delay
OMIM:300934	SSR4	6748	HP:0001508	Failure to thrive
OMIM:300934	SSR4	6748	HP:0000252	Microcephaly
OMIM:300934	SSR4	6748	HP:0001290	Generalized hypotonia
OMIM:300934	SSR4	6748	HP:0011968	Feeding difficulties
OMIM:300934	SSR4	6748	HP:0000400	Macrotia
OMIM:300934	SSR4	6748	HP:0000154	Wide mouth
OMIM:300934	SSR4	6748	HP:0000347	Micrognathia
OMIM:300934	SSR4	6748	HP:0003577	Congenital onset
OMIM:300934	SSR4	6748	HP:0030084	Clinodactyly
OMIM:300934	SSR4	6748	HP:0000047	Hypospadias
OMIM:300934	SSR4	6748	HP:0000490	Deeply set eye
OMIM:300934	SSR4	6748	HP:0003642	Type I transferrin isoform profile
OMIM:614609	SMARCA4	6597	HP:0000365	Hearing impairment
OMIM:614609	SMARCA4	6597	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614609	SMARCA4	6597	HP:0005280	Depressed nasal bridge
OMIM:614609	SMARCA4	6597	HP:0001290	Generalized hypotonia
OMIM:614609	SMARCA4	6597	HP:0001263	Global developmental delay
OMIM:614609	SMARCA4	6597	HP:0000154	Wide mouth
OMIM:614609	SMARCA4	6597	HP:0000158	Macroglossia
OMIM:614609	SMARCA4	6597	HP:0001273	Abnormality of the corpus callosum
OMIM:614609	SMARCA4	6597	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:614609	SMARCA4	6597	HP:0009928	Thick nasal alae
OMIM:614609	SMARCA4	6597	HP:0000998	Hypertrichosis
OMIM:614609	SMARCA4	6597	HP:0011968	Feeding difficulties
OMIM:614609	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:614609	SMARCA4	6597	HP:0004322	Short stature
OMIM:614609	SMARCA4	6597	HP:0000280	Coarse facial features
OMIM:614609	SMARCA4	6597	HP:0002750	Delayed skeletal maturation
OMIM:614609	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:614609	SMARCA4	6597	HP:0002650	Scoliosis
OMIM:614609	SMARCA4	6597	HP:0000445	Wide nose
OMIM:614609	SMARCA4	6597	HP:0001511	Intrauterine growth retardation
OMIM:614609	SMARCA4	6597	HP:0000463	Anteverted nares
ORPHA:217390	DOCK8	81704	HP:0005364	Severe viral infections
ORPHA:217390	DOCK8	81704	HP:0002099	Asthma
ORPHA:217390	DOCK8	81704	HP:0002090	Pneumonia
ORPHA:217390	DOCK8	81704	HP:0001047	Atopic dermatitis
ORPHA:217390	DOCK8	81704	HP:0000389	Chronic otitis media
ORPHA:217390	DOCK8	81704	HP:0011108	Recurrent sinusitis
ORPHA:217390	DOCK8	81704	HP:0200042	Skin ulcer
ORPHA:217390	DOCK8	81704	HP:0200043	Verrucae
ORPHA:217390	DOCK8	81704	HP:0005406	Recurrent bacterial skin infections
ORPHA:217390	DOCK8	81704	HP:0005401	Recurrent candida infections
ORPHA:217390	DOCK8	81704	HP:0005403	Decrease in T cell count
ORPHA:217390	DOCK8	81704	HP:0010976	B lymphocytopenia
ORPHA:217390	DOCK8	81704	HP:0012203	Onychomycosis
ORPHA:217390	DOCK8	81704	HP:0003212	Increased IgE level
OMIM:614418	CPA6	57094	HP:0000007	Autosomal recessive inheritance
OMIM:614418	CPA6	57094	HP:0002069	Generalized tonic-clonic seizures
OMIM:614418	CPA6	57094	HP:0002373	Febrile seizures
OMIM:212140	SLC22A5	6584	HP:0030362	Reduced muscle carnitine level
OMIM:212140	SLC22A5	6584	HP:0001640	Cardiomegaly
OMIM:212140	SLC22A5	6584	HP:0001290	Generalized hypotonia
OMIM:212140	SLC22A5	6584	HP:0002013	Vomiting
OMIM:212140	SLC22A5	6584	HP:0002910	Elevated hepatic transaminases
OMIM:212140	SLC22A5	6584	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212140	SLC22A5	6584	HP:0001397	Hepatic steatosis
OMIM:212140	SLC22A5	6584	HP:0001635	Congestive heart failure
OMIM:212140	SLC22A5	6584	HP:0001324	Muscle weakness
OMIM:212140	SLC22A5	6584	HP:0001298	Encephalopathy
OMIM:212140	SLC22A5	6584	HP:0001508	Failure to thrive
OMIM:212140	SLC22A5	6584	HP:0005959	Impaired gluconeogenesis
OMIM:212140	SLC22A5	6584	HP:0001289	Confusion
OMIM:212140	SLC22A5	6584	HP:0001706	Endocardial fibroelastosis
OMIM:212140	SLC22A5	6584	HP:0003198	Myopathy
OMIM:212140	SLC22A5	6584	HP:0045061	Decreased carnitine level in liver
OMIM:212140	SLC22A5	6584	HP:0001262	Excessive daytime somnolence
OMIM:212140	SLC22A5	6584	HP:0002240	Hepatomegaly
OMIM:212140	SLC22A5	6584	HP:0003234	Decreased plasma carnitine
OMIM:212140	SLC22A5	6584	HP:0001988	Recurrent hypoglycemia
OMIM:212140	SLC22A5	6584	HP:0001259	Coma
OMIM:212140	SLC22A5	6584	HP:0001987	Hyperammonemia
OMIM:212140	SLC22A5	6584	HP:0000007	Autosomal recessive inheritance
OMIM:212140	SLC22A5	6584	HP:0001254	Lethargy
OMIM:249500	PRSS12	8492	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:249500	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:249500	PRSS12	8492	HP:0003487	Babinski sign
OMIM:249500	PRSS12	8492	HP:0000639	Nystagmus
OMIM:249500	PRSS12	8492	HP:0000486	Strabismus
OMIM:613933	ACACA	31	HP:0001290	Generalized hypotonia
OMIM:613933	ACACA	31	HP:0001510	Growth delay
OMIM:613933	ACACA	31	HP:0000007	Autosomal recessive inheritance
OMIM:613933	ACACA	31	HP:0003198	Myopathy
OMIM:122470	NIPBL	25836	HP:0005565	Reduced renal corticomedullary differentiation
OMIM:122470	NIPBL	25836	HP:0000028	Cryptorchidism
OMIM:122470	NIPBL	25836	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	NIPBL	25836	HP:0001250	Seizures
OMIM:122470	NIPBL	25836	HP:0005815	Supernumerary ribs
OMIM:122470	NIPBL	25836	HP:0000248	Brachycephaly
OMIM:122470	NIPBL	25836	HP:0100716	Self-injurious behavior
OMIM:122470	NIPBL	25836	HP:0000750	Delayed speech and language development
OMIM:122470	NIPBL	25836	HP:0000527	Long eyelashes
OMIM:122470	NIPBL	25836	HP:0000175	Cleft palate
OMIM:122470	NIPBL	25836	HP:0000059	Hypoplastic labia majora
OMIM:122470	NIPBL	25836	HP:0001511	Intrauterine growth retardation
OMIM:122470	NIPBL	25836	HP:0000463	Anteverted nares
OMIM:122470	NIPBL	25836	HP:0002021	Pyloric stenosis
OMIM:122470	NIPBL	25836	HP:0000588	Optic nerve coloboma
OMIM:122470	NIPBL	25836	HP:0000684	Delayed eruption of teeth
OMIM:122470	NIPBL	25836	HP:0002705	High, narrow palate
OMIM:122470	NIPBL	25836	HP:0001007	Hirsutism
OMIM:122470	NIPBL	25836	HP:0000405	Conductive hearing impairment
OMIM:122470	NIPBL	25836	HP:0000954	Single transverse palmar crease
OMIM:122470	NIPBL	25836	HP:0000086	Ectopic kidney
OMIM:122470	NIPBL	25836	HP:0000453	Choanal atresia
OMIM:122470	NIPBL	25836	HP:0000508	Ptosis
OMIM:122470	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:122470	NIPBL	25836	HP:0009623	Proximal placement of thumb
OMIM:122470	NIPBL	25836	HP:0000664	Synophrys
OMIM:122470	NIPBL	25836	HP:0000023	Inguinal hernia
OMIM:122470	NIPBL	25836	HP:0000648	Optic atrophy
OMIM:122470	NIPBL	25836	HP:0001276	Hypertonia
OMIM:122470	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:122470	NIPBL	25836	HP:0002557	Hypoplastic nipples
OMIM:122470	NIPBL	25836	HP:0004322	Short stature
OMIM:122470	NIPBL	25836	HP:0005280	Depressed nasal bridge
OMIM:122470	NIPBL	25836	HP:0000252	Microcephaly
OMIM:122470	NIPBL	25836	HP:0000369	Low-set ears
OMIM:122470	NIPBL	25836	HP:0002090	Pneumonia
OMIM:122470	NIPBL	25836	HP:0007665	Curly eyelashes
OMIM:122470	NIPBL	25836	HP:0000965	Cutis marmorata
OMIM:122470	NIPBL	25836	HP:0001629	Ventricular septal defect
OMIM:122470	NIPBL	25836	HP:0000219	Thin upper lip vermilion
OMIM:122470	NIPBL	25836	HP:0000347	Micrognathia
OMIM:122470	NIPBL	25836	HP:0000486	Strabismus
OMIM:122470	NIPBL	25836	HP:0002714	Downturned corners of mouth
OMIM:122470	NIPBL	25836	HP:0002036	Hiatus hernia
OMIM:122470	NIPBL	25836	HP:0002162	Low posterior hairline
OMIM:122470	NIPBL	25836	HP:0004785	Malrotation of colon
OMIM:122470	NIPBL	25836	HP:0005217	Duplication of internal organs
OMIM:122470	NIPBL	25836	HP:0000687	Widely spaced teeth
OMIM:122470	NIPBL	25836	HP:0003745	Sporadic
OMIM:122470	NIPBL	25836	HP:0003812	Phenotypic variability
OMIM:122470	NIPBL	25836	HP:0001551	Abnormality of the umbilicus
OMIM:122470	NIPBL	25836	HP:0001612	Weak cry
OMIM:122470	NIPBL	25836	HP:0001873	Thrombocytopenia
OMIM:122470	NIPBL	25836	HP:0000482	Microcornea
OMIM:122470	NIPBL	25836	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	NIPBL	25836	HP:0002984	Hypoplasia of the radius
OMIM:122470	NIPBL	25836	HP:0000470	Short neck
OMIM:122470	NIPBL	25836	HP:0001180	Hand oligodactyly
OMIM:122470	NIPBL	25836	HP:0000639	Nystagmus
OMIM:122470	NIPBL	25836	HP:0000879	Short sternum
OMIM:122470	NIPBL	25836	HP:0002987	Elbow flexion contracture
OMIM:122470	NIPBL	25836	HP:0000204	Cleft upper lip
OMIM:122470	NIPBL	25836	HP:0003997	Hypoplastic radial head
OMIM:122470	NIPBL	25836	HP:0000407	Sensorineural hearing impairment
OMIM:122470	NIPBL	25836	HP:0002750	Delayed skeletal maturation
OMIM:122470	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:122470	NIPBL	25836	HP:0000545	Myopia
OMIM:122470	NIPBL	25836	HP:0000520	Proptosis
OMIM:122470	NIPBL	25836	HP:0000047	Hypospadias
OMIM:122470	NIPBL	25836	HP:0003083	Dislocated radial head
OMIM:122470	NIPBL	25836	HP:0004691	2-3 toe syndactyly
OMIM:122470	NIPBL	25836	HP:0000708	Behavioral abnormality
OMIM:122470	NIPBL	25836	HP:0009829	Phocomelia
OMIM:122470	NIPBL	25836	HP:0000343	Long philtrum
OMIM:122470	NIPBL	25836	HP:0001377	Limited elbow extension
OMIM:122470	NIPBL	25836	HP:0002983	Micromelia
OMIM:122470	NIPBL	25836	HP:0000483	Astigmatism
OMIM:122470	NIPBL	25836	HP:0000006	Autosomal dominant inheritance
OMIM:122470	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
ORPHA:32960	TNFRSF1A	7132	HP:0003326	Myalgia
ORPHA:32960	TNFRSF1A	7132	HP:0010783	Erythema
ORPHA:32960	TNFRSF1A	7132	HP:0001701	Pericarditis
ORPHA:32960	TNFRSF1A	7132	HP:0011227	Elevated C-reactive protein level
ORPHA:32960	TNFRSF1A	7132	HP:0100796	Orchitis
ORPHA:32960	TNFRSF1A	7132	HP:0005214	Intestinal obstruction
ORPHA:32960	TNFRSF1A	7132	HP:0002013	Vomiting
ORPHA:32960	TNFRSF1A	7132	HP:0001369	Arthritis
ORPHA:32960	TNFRSF1A	7132	HP:0002716	Lymphadenopathy
ORPHA:32960	TNFRSF1A	7132	HP:0002027	Abdominal pain
ORPHA:32960	TNFRSF1A	7132	HP:0002019	Constipation
ORPHA:32960	TNFRSF1A	7132	HP:0001974	Leukocytosis
ORPHA:32960	TNFRSF1A	7132	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:32960	TNFRSF1A	7132	HP:0002014	Diarrhea
ORPHA:32960	TNFRSF1A	7132	HP:0001744	Splenomegaly
ORPHA:32960	TNFRSF1A	7132	HP:0001954	Episodic fever
ORPHA:32960	TNFRSF1A	7132	HP:0000988	Skin rash
ORPHA:32960	TNFRSF1A	7132	HP:0001055	Erysipelas
ORPHA:32960	TNFRSF1A	7132	HP:0002102	Pleuritis
OMIM:612740	ALAD	210	HP:0003163	Elevated urinary delta-aminolevulinic acid
OMIM:612740	ALAD	210	HP:0000007	Autosomal recessive inheritance
OMIM:612740	ALAD	210	HP:0001508	Failure to thrive
OMIM:612740	ALAD	210	HP:0002013	Vomiting
OMIM:612740	ALAD	210	HP:0040284	Very rare
OMIM:612740	ALAD	210	HP:0002203	Respiratory paralysis
OMIM:612740	ALAD	210	HP:0001290	Generalized hypotonia
OMIM:612740	ALAD	210	HP:0001878	Hemolytic anemia
OMIM:612740	ALAD	210	HP:0003401	Paresthesia
OMIM:612740	ALAD	210	HP:0011848	Abdominal colic
OMIM:604320	IGHMBP2	3508	HP:0002019	Constipation
OMIM:604320	IGHMBP2	3508	HP:0001508	Failure to thrive
OMIM:604320	IGHMBP2	3508	HP:0001265	Hyporeflexia
OMIM:604320	IGHMBP2	3508	HP:0001622	Premature birth
OMIM:604320	IGHMBP2	3508	HP:0003445	EMG: neuropathic changes
OMIM:604320	IGHMBP2	3508	HP:0009110	Diaphragmatic eventration
OMIM:604320	IGHMBP2	3508	HP:0006597	Diaphragmatic paralysis
OMIM:604320	IGHMBP2	3508	HP:0001511	Intrauterine growth retardation
OMIM:604320	IGHMBP2	3508	HP:0100490	Camptodactyly of finger
OMIM:604320	IGHMBP2	3508	HP:0000007	Autosomal recessive inheritance
OMIM:604320	IGHMBP2	3508	HP:0001612	Weak cry
OMIM:604320	IGHMBP2	3508	HP:0002878	Respiratory failure
OMIM:604320	IGHMBP2	3508	HP:0001558	Decreased fetal movement
OMIM:604320	IGHMBP2	3508	HP:0000975	Hyperhidrosis
OMIM:604320	IGHMBP2	3508	HP:0000764	Peripheral axonal degeneration
OMIM:604320	IGHMBP2	3508	HP:0001518	Small for gestational age
OMIM:604320	IGHMBP2	3508	HP:0000020	Urinary incontinence
OMIM:604320	IGHMBP2	3508	HP:0002398	Degeneration of anterior horn cells
OMIM:604320	IGHMBP2	3508	HP:0003693	Distal amyotrophy
OMIM:604320	IGHMBP2	3508	HP:0005348	Inspiratory stridor
OMIM:604320	IGHMBP2	3508	HP:0001762	Talipes equinovarus
OMIM:604320	IGHMBP2	3508	HP:0002789	Tachypnea
OMIM:604320	IGHMBP2	3508	HP:0009109	Denervation of the diaphragm
OMIM:604320	IGHMBP2	3508	HP:0005946	Ventilator dependence with inability to wean
OMIM:604320	IGHMBP2	3508	HP:0000762	Decreased nerve conduction velocity
OMIM:604320	IGHMBP2	3508	HP:0002460	Distal muscle weakness
OMIM:604320	IGHMBP2	3508	HP:0007269	Spinal muscular atrophy
OMIM:604320	IGHMBP2	3508	HP:0003690	Limb muscle weakness
OMIM:614859	PEX12	5193	HP:0012368	Flat face
OMIM:614859	PEX12	5193	HP:0000369	Low-set ears
OMIM:614859	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614859	PEX12	5193	HP:0000431	Wide nasal bridge
OMIM:614859	PEX12	5193	HP:0001284	Areflexia
OMIM:614859	PEX12	5193	HP:0000348	High forehead
OMIM:614859	PEX12	5193	HP:0001290	Generalized hypotonia
OMIM:614859	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX12	5193	HP:0001250	Seizures
OMIM:614859	PEX12	5193	HP:0008935	Generalized neonatal hypotonia
OMIM:614859	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX12	5193	HP:0000113	Polycystic kidney dysplasia
OMIM:616056	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:616056	KCNB1	3745	HP:0001290	Generalized hypotonia
OMIM:616056	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:616056	KCNB1	3745	HP:0003593	Infantile onset
OMIM:616056	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:616056	KCNB1	3745	HP:0001250	Seizures
OMIM:616056	KCNB1	3745	HP:0200134	Epileptic encephalopathy
ORPHA:1106	SMOC1	64093	HP:0002342	Intellectual disability, moderate
ORPHA:1106	SMOC1	64093	HP:0000327	Hypoplasia of the maxilla
ORPHA:1106	SMOC1	64093	HP:0001849	Foot oligodactyly
ORPHA:1106	SMOC1	64093	HP:0001852	Sandal gap
ORPHA:1106	SMOC1	64093	HP:0002007	Frontal bossing
ORPHA:1106	SMOC1	64093	HP:0000534	Abnormality of the eyebrow
ORPHA:1106	SMOC1	64093	HP:0003038	Fibular hypoplasia
ORPHA:1106	SMOC1	64093	HP:0004322	Short stature
ORPHA:1106	SMOC1	64093	HP:0000581	Blepharophimosis
ORPHA:1106	SMOC1	64093	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1106	SMOC1	64093	HP:0000204	Cleft upper lip
ORPHA:1106	SMOC1	64093	HP:0008368	Tarsal synostosis
ORPHA:1106	SMOC1	64093	HP:0011220	Prominent forehead
ORPHA:1106	SMOC1	64093	HP:0000648	Optic atrophy
ORPHA:1106	SMOC1	64093	HP:0001508	Failure to thrive
ORPHA:1106	SMOC1	64093	HP:0005736	Short tibia
ORPHA:1106	SMOC1	64093	HP:0001163	Abnormality of the metacarpal bones
ORPHA:1106	SMOC1	64093	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1106	SMOC1	64093	HP:0005280	Depressed nasal bridge
ORPHA:1106	SMOC1	64093	HP:0001180	Hand oligodactyly
ORPHA:1106	SMOC1	64093	HP:0010864	Intellectual disability, severe
ORPHA:1106	SMOC1	64093	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:1106	SMOC1	64093	HP:0000568	Microphthalmia
ORPHA:1106	SMOC1	64093	HP:0006101	Finger syndactyly
ORPHA:1106	SMOC1	64093	HP:0002982	Tibial bowing
ORPHA:1106	SMOC1	64093	HP:0011478	True anophthalmia
ORPHA:1106	SMOC1	64093	HP:0001215	Camptodactyly of 2nd-5th fingers
ORPHA:1106	SMOC1	64093	HP:0001162	Postaxial hand polydactyly
ORPHA:1106	SMOC1	64093	HP:0005048	Synostosis of carpal bones
ORPHA:1106	SMOC1	64093	HP:0001770	Toe syndactyly
ORPHA:1106	SMOC1	64093	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1106	SMOC1	64093	HP:0009748	Large earlobe
OMIM:277580	EDNRB	1910	HP:0001252	Muscular hypotonia
OMIM:277580	EDNRB	1910	HP:0000639	Nystagmus
OMIM:277580	EDNRB	1910	HP:0001251	Ataxia
OMIM:277580	EDNRB	1910	HP:0001263	Global developmental delay
OMIM:277580	EDNRB	1910	HP:0002211	White forelock
OMIM:277580	EDNRB	1910	HP:0001053	Hypopigmented skin patches
OMIM:277580	EDNRB	1910	HP:0002271	Autonomic dysregulation
OMIM:277580	EDNRB	1910	HP:0002415	Leukodystrophy
OMIM:277580	EDNRB	1910	HP:0001425	Heterogeneous
OMIM:277580	EDNRB	1910	HP:0002227	White eyelashes
OMIM:277580	EDNRB	1910	HP:0001271	Polyneuropathy
OMIM:277580	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
OMIM:277580	EDNRB	1910	HP:0002226	White eyebrow
OMIM:277580	EDNRB	1910	HP:0002313	Spastic paraparesis
OMIM:277580	EDNRB	1910	HP:0000635	Blue irides
OMIM:277580	EDNRB	1910	HP:0001100	Heterochromia iridis
OMIM:277580	EDNRB	1910	HP:0000007	Autosomal recessive inheritance
OMIM:277580	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:277580	EDNRB	1910	HP:0002216	Premature graying of hair
OMIM:277580	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:607346	KCND3	3752	HP:0002078	Truncal ataxia
OMIM:607346	KCND3	3752	HP:0001265	Hyporeflexia
OMIM:607346	KCND3	3752	HP:0001260	Dysarthria
OMIM:607346	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:607346	KCND3	3752	HP:0001272	Cerebellar atrophy
OMIM:607346	KCND3	3752	HP:0002174	Postural tremor
OMIM:607346	KCND3	3752	HP:0001336	Myoclonus
OMIM:607346	KCND3	3752	HP:0002015	Dysphagia
OMIM:607346	KCND3	3752	HP:0002070	Limb ataxia
OMIM:607346	KCND3	3752	HP:0007944	Intermittent microsaccadic pursuits
OMIM:607346	KCND3	3752	HP:0002066	Gait ataxia
OMIM:607346	KCND3	3752	HP:0007979	Gaze-evoked horizontal nystagmus
OMIM:607346	KCND3	3752	HP:0003677	Slow progression
OMIM:607346	KCND3	3752	HP:0002073	Progressive cerebellar ataxia
OMIM:609446	KCNMA1	3778	HP:0002121	Absence seizures
OMIM:609446	KCNMA1	3778	HP:0000006	Autosomal dominant inheritance
OMIM:609446	KCNMA1	3778	HP:0002069	Generalized tonic-clonic seizures
OMIM:609446	KCNMA1	3778	HP:0007166	Paroxysmal dyskinesia
OMIM:609446	KCNMA1	3778	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:615284	SBF1	6305	HP:0003383	Onion bulb formation
OMIM:615284	SBF1	6305	HP:0000762	Decreased nerve conduction velocity
OMIM:615284	SBF1	6305	HP:0000007	Autosomal recessive inheritance
OMIM:615284	SBF1	6305	HP:0002650	Scoliosis
OMIM:615284	SBF1	6305	HP:0000252	Microcephaly
OMIM:615284	SBF1	6305	HP:0001763	Pes planus
OMIM:615284	SBF1	6305	HP:0003676	Progressive
OMIM:615284	SBF1	6305	HP:0002936	Distal sensory impairment
OMIM:615284	SBF1	6305	HP:0001284	Areflexia
OMIM:615284	SBF1	6305	HP:0001288	Gait disturbance
OMIM:616176	PRKACG	5568	HP:0000007	Autosomal recessive inheritance
OMIM:616176	PRKACG	5568	HP:0040185	Macrothrombocytopenia
OMIM:616176	PRKACG	5568	HP:0000421	Epistaxis
OMIM:616176	PRKACG	5568	HP:0001903	Anemia
OMIM:616176	PRKACG	5568	HP:0007420	Spontaneous hematomas
OMIM:616176	PRKACG	5568	HP:0000132	Menorrhagia
OMIM:226650	LAMA3	3909	HP:0002164	Nail dysplasia
OMIM:226650	LAMA3	3909	HP:0001808	Fragile nails
OMIM:226650	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMA3	3909	HP:0008404	Nail dystrophy
OMIM:226650	LAMA3	3909	HP:0001425	Heterogeneous
OMIM:226650	LAMA3	3909	HP:0007556	Plantar hyperkeratosis
OMIM:226650	LAMA3	3909	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMA3	3909	HP:0200097	Oral mucosal blisters
OMIM:226650	LAMA3	3909	HP:0000668	Hypodontia
OMIM:226650	LAMA3	3909	HP:0000670	Carious teeth
OMIM:226650	LAMA3	3909	HP:0006089	Palmar hyperhidrosis
OMIM:226650	LAMB3	3914	HP:0002164	Nail dysplasia
OMIM:226650	LAMB3	3914	HP:0001808	Fragile nails
OMIM:226650	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMB3	3914	HP:0008404	Nail dystrophy
OMIM:226650	LAMB3	3914	HP:0001425	Heterogeneous
OMIM:226650	LAMB3	3914	HP:0007556	Plantar hyperkeratosis
OMIM:226650	LAMB3	3914	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMB3	3914	HP:0200097	Oral mucosal blisters
OMIM:226650	LAMB3	3914	HP:0000668	Hypodontia
OMIM:226650	LAMB3	3914	HP:0000670	Carious teeth
OMIM:226650	LAMB3	3914	HP:0006089	Palmar hyperhidrosis
OMIM:226650	ITGB4	3691	HP:0002164	Nail dysplasia
OMIM:226650	ITGB4	3691	HP:0001808	Fragile nails
OMIM:226650	ITGB4	3691	HP:0000007	Autosomal recessive inheritance
OMIM:226650	ITGB4	3691	HP:0008404	Nail dystrophy
OMIM:226650	ITGB4	3691	HP:0001425	Heterogeneous
OMIM:226650	ITGB4	3691	HP:0007556	Plantar hyperkeratosis
OMIM:226650	ITGB4	3691	HP:0100490	Camptodactyly of finger
OMIM:226650	ITGB4	3691	HP:0200097	Oral mucosal blisters
OMIM:226650	ITGB4	3691	HP:0000668	Hypodontia
OMIM:226650	ITGB4	3691	HP:0000670	Carious teeth
OMIM:226650	ITGB4	3691	HP:0006089	Palmar hyperhidrosis
OMIM:226650	COL17A1	1308	HP:0002164	Nail dysplasia
OMIM:226650	COL17A1	1308	HP:0001808	Fragile nails
OMIM:226650	COL17A1	1308	HP:0000007	Autosomal recessive inheritance
OMIM:226650	COL17A1	1308	HP:0008404	Nail dystrophy
OMIM:226650	COL17A1	1308	HP:0001425	Heterogeneous
OMIM:226650	COL17A1	1308	HP:0007556	Plantar hyperkeratosis
OMIM:226650	COL17A1	1308	HP:0100490	Camptodactyly of finger
OMIM:226650	COL17A1	1308	HP:0200097	Oral mucosal blisters
OMIM:226650	COL17A1	1308	HP:0000668	Hypodontia
OMIM:226650	COL17A1	1308	HP:0000670	Carious teeth
OMIM:226650	COL17A1	1308	HP:0006089	Palmar hyperhidrosis
OMIM:226650	LAMC2	3918	HP:0002164	Nail dysplasia
OMIM:226650	LAMC2	3918	HP:0001808	Fragile nails
OMIM:226650	LAMC2	3918	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMC2	3918	HP:0008404	Nail dystrophy
OMIM:226650	LAMC2	3918	HP:0001425	Heterogeneous
OMIM:226650	LAMC2	3918	HP:0007556	Plantar hyperkeratosis
OMIM:226650	LAMC2	3918	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMC2	3918	HP:0200097	Oral mucosal blisters
OMIM:226650	LAMC2	3918	HP:0000668	Hypodontia
OMIM:226650	LAMC2	3918	HP:0000670	Carious teeth
OMIM:226650	LAMC2	3918	HP:0006089	Palmar hyperhidrosis
OMIM:211500	SLC52A3	113278	HP:0001349	Facial diplegia
OMIM:211500	SLC52A3	113278	HP:0000007	Autosomal recessive inheritance
OMIM:211500	SLC52A3	113278	HP:0005951	Progressive inspiratory stridor
OMIM:211500	SLC52A3	113278	HP:0007034	Generalized hyperreflexia
OMIM:211500	SLC52A3	113278	HP:0009113	Diaphragmatic weakness
OMIM:211500	SLC52A3	113278	HP:0001283	Bulbar palsy
OMIM:211500	SLC52A3	113278	HP:0000508	Ptosis
OMIM:211500	SLC52A3	113278	HP:0002015	Dysphagia
OMIM:612292	KCNK9	51305	HP:0011229	Broad eyebrow
OMIM:612292	KCNK9	51305	HP:0001249	Intellectual disability
OMIM:612292	KCNK9	51305	HP:0011819	Submucous cleft soft palate
OMIM:612292	KCNK9	51305	HP:0000006	Autosomal dominant inheritance
OMIM:612292	KCNK9	51305	HP:0000218	High palate
OMIM:612292	KCNK9	51305	HP:0001999	Abnormal facial shape
OMIM:612292	KCNK9	51305	HP:0001252	Muscular hypotonia
OMIM:612292	KCNK9	51305	HP:0000960	Sacral dimple
OMIM:612292	KCNK9	51305	HP:0002015	Dysphagia
OMIM:612292	KCNK9	51305	HP:0000322	Short philtrum
OMIM:612292	KCNK9	51305	HP:0000574	Thick eyebrow
OMIM:612292	KCNK9	51305	HP:0000341	Narrow forehead
OMIM:612292	KCNK9	51305	HP:0002553	Highly arched eyebrow
OMIM:612292	KCNK9	51305	HP:0008872	Feeding difficulties in infancy
OMIM:609887	WDR36	134430	HP:0012108	Open angle glaucoma
ORPHA:79326	ALG2	85365	HP:0001250	Seizures
ORPHA:79326	ALG2	85365	HP:0000612	Iris coloboma
ORPHA:79326	ALG2	85365	HP:0000639	Nystagmus
ORPHA:79326	ALG2	85365	HP:0000518	Cataract
ORPHA:79326	ALG2	85365	HP:0100543	Cognitive impairment
OMIM:602450	DCLRE1C	64421	HP:0003249	Genital ulcers
OMIM:602450	DCLRE1C	64421	HP:0003812	Phenotypic variability
OMIM:602450	DCLRE1C	64421	HP:0002732	Lymph node hypoplasia
OMIM:602450	DCLRE1C	64421	HP:0000007	Autosomal recessive inheritance
OMIM:602450	DCLRE1C	64421	HP:0004430	Severe combined immunodeficiency
OMIM:602450	DCLRE1C	64421	HP:0002788	Recurrent upper respiratory tract infections
OMIM:602450	DCLRE1C	64421	HP:0030813	Absent tonsils
OMIM:602450	DCLRE1C	64421	HP:0000388	Otitis media
OMIM:602450	DCLRE1C	64421	HP:0005359	Aplasia of the thymus
OMIM:602450	DCLRE1C	64421	HP:0002090	Pneumonia
OMIM:602450	DCLRE1C	64421	HP:0000155	Oral ulcer
OMIM:602450	DCLRE1C	64421	HP:0001508	Failure to thrive
OMIM:602450	DCLRE1C	64421	HP:0002014	Diarrhea
OMIM:602450	DCLRE1C	64421	HP:0003139	Panhypogammaglobulinemia
OMIM:607131	KIF7	374654	HP:0000470	Short neck
OMIM:607131	KIF7	374654	HP:0002007	Frontal bossing
OMIM:607131	KIF7	374654	HP:0000023	Inguinal hernia
OMIM:607131	KIF7	374654	HP:0000768	Pectus carinatum
OMIM:607131	KIF7	374654	HP:0001999	Abnormal facial shape
OMIM:607131	KIF7	374654	HP:0000767	Pectus excavatum
OMIM:607131	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:607131	KIF7	374654	HP:0002654	Multiple epiphyseal dysplasia
OMIM:607131	KIF7	374654	HP:0000256	Macrocephaly
OMIM:607131	KIF7	374654	HP:0000272	Malar flattening
OMIM:607131	KIF7	374654	HP:0000316	Hypertelorism
OMIM:607131	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:607131	KIF7	374654	HP:0002857	Genu valgum
OMIM:607131	KIF7	374654	HP:0030084	Clinodactyly
OMIM:607131	KIF7	374654	HP:0001004	Lymphedema
OMIM:607131	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:613406	SIN3A	25942	HP:0000324	Facial asymmetry
OMIM:613406	SIN3A	25942	HP:0002589	Gastrointestinal atresia
OMIM:613406	SIN3A	25942	HP:0001249	Intellectual disability
OMIM:613406	SIN3A	25942	HP:0009466	Radial deviation of finger
OMIM:613406	SIN3A	25942	HP:0030260	Microphallus
OMIM:613406	SIN3A	25942	HP:0000957	Cafe-au-lait spot
OMIM:613406	SIN3A	25942	HP:0001290	Generalized hypotonia
OMIM:613406	SIN3A	25942	HP:0000343	Long philtrum
OMIM:613406	SIN3A	25942	HP:0030084	Clinodactyly
OMIM:613406	SIN3A	25942	HP:0002376	Developmental regression
OMIM:613406	SIN3A	25942	HP:0000160	Narrow mouth
OMIM:613406	SIN3A	25942	HP:0000006	Autosomal dominant inheritance
OMIM:613406	SIN3A	25942	HP:0001513	Obesity
OMIM:613406	SIN3A	25942	HP:0000463	Anteverted nares
OMIM:613406	SIN3A	25942	HP:0000179	Thick lower lip vermilion
OMIM:613406	SIN3A	25942	HP:0000319	Smooth philtrum
OMIM:613406	SIN3A	25942	HP:0000276	Long face
OMIM:613406	SIN3A	25942	HP:0004322	Short stature
OMIM:613406	SIN3A	25942	HP:0000752	Hyperactivity
OMIM:613406	SIN3A	25942	HP:0001166	Arachnodactyly
OMIM:613406	SIN3A	25942	HP:0000639	Nystagmus
OMIM:613406	SIN3A	25942	HP:0000023	Inguinal hernia
OMIM:613406	SIN3A	25942	HP:0000718	Aggressive behavior
OMIM:613406	SIN3A	25942	HP:0100024	Conspicuously happy disposition
OMIM:613406	SIN3A	25942	HP:0010747	Medial flaring of the eyebrow
OMIM:613406	SIN3A	25942	HP:0000028	Cryptorchidism
OMIM:613406	SIN3A	25942	HP:0000365	Hearing impairment
OMIM:613406	SIN3A	25942	HP:0000054	Micropenis
OMIM:613406	SIN3A	25942	HP:0000308	Microretrognathia
OMIM:613406	SIN3A	25942	HP:0000765	Abnormality of the thorax
OMIM:613406	SIN3A	25942	HP:0000047	Hypospadias
OMIM:613406	SIN3A	25942	HP:0001608	Abnormality of the voice
OMIM:613406	SIN3A	25942	HP:0009778	Short thumb
OMIM:613406	SIN3A	25942	HP:0002213	Fine hair
OMIM:613406	SIN3A	25942	HP:0003745	Sporadic
OMIM:613406	SIN3A	25942	HP:0000717	Autism
OMIM:613406	SIN3A	25942	HP:0001561	Polyhydramnios
OMIM:613406	SIN3A	25942	HP:0000568	Microphthalmia
OMIM:613406	SIN3A	25942	HP:0000233	Thin vermilion border
OMIM:613406	SIN3A	25942	HP:0000316	Hypertelorism
OMIM:613406	SIN3A	25942	HP:0000426	Prominent nasal bridge
OMIM:613406	SIN3A	25942	HP:0000286	Epicanthus
OMIM:613406	SIN3A	25942	HP:0001518	Small for gestational age
OMIM:613406	SIN3A	25942	HP:0000776	Congenital diaphragmatic hernia
OMIM:613406	SIN3A	25942	HP:0002119	Ventriculomegaly
OMIM:613406	SIN3A	25942	HP:0000275	Narrow face
OMIM:613406	SIN3A	25942	HP:0002650	Scoliosis
OMIM:613406	SIN3A	25942	HP:0009890	High anterior hairline
OMIM:613406	SIN3A	25942	HP:0000454	Flared nostrils
OMIM:613406	SIN3A	25942	HP:0000612	Iris coloboma
OMIM:613406	SIN3A	25942	HP:0000824	Growth hormone deficiency
OMIM:613406	SIN3A	25942	HP:0000954	Single transverse palmar crease
OMIM:613406	SIN3A	25942	HP:0008872	Feeding difficulties in infancy
OMIM:613406	SIN3A	25942	HP:0000540	Hypermetropia
OMIM:613406	SIN3A	25942	HP:0001252	Muscular hypotonia
OMIM:613406	SIN3A	25942	HP:0000400	Macrotia
OMIM:613406	SIN3A	25942	HP:0009623	Proximal placement of thumb
OMIM:613406	SIN3A	25942	HP:0000356	Abnormality of the outer ear
OMIM:613406	SIN3A	25942	HP:0009916	Anisocoria
OMIM:613406	SIN3A	25942	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613406	SIN3A	25942	HP:0005280	Depressed nasal bridge
OMIM:613406	SIN3A	25942	HP:0000494	Downslanted palpebral fissures
OMIM:613406	SIN3A	25942	HP:0000687	Widely spaced teeth
OMIM:613406	SIN3A	25942	HP:0003196	Short nose
OMIM:613406	SIN3A	25942	HP:0000348	High forehead
OMIM:613406	SIN3A	25942	HP:0002360	Sleep disturbance
OMIM:613406	SIN3A	25942	HP:0001388	Joint laxity
OMIM:613406	SIN3A	25942	HP:0001510	Growth delay
OMIM:613406	SIN3A	25942	HP:0001511	Intrauterine growth retardation
OMIM:613406	SIN3A	25942	HP:0000750	Delayed speech and language development
OMIM:613406	SIN3A	25942	HP:0000486	Strabismus
OMIM:613406	SIN3A	25942	HP:0001156	Brachydactyly
OMIM:613406	SIN3A	25942	HP:0002719	Recurrent infections
OMIM:613406	SIN3A	25942	HP:0000218	High palate
OMIM:613406	SIN3A	25942	HP:0000194	Open mouth
OMIM:613406	SIN3A	25942	HP:0003812	Phenotypic variability
OMIM:613406	SIN3A	25942	HP:0001263	Global developmental delay
OMIM:613406	SIN3A	25942	HP:0004279	Short palm
OMIM:613406	SIN3A	25942	HP:0006989	Dysplastic corpus callosum
OMIM:613406	SIN3A	25942	HP:0000431	Wide nasal bridge
OMIM:613406	SIN3A	25942	HP:0000445	Wide nose
OMIM:613406	SIN3A	25942	HP:0001256	Intellectual disability, mild
OMIM:613406	SIN3A	25942	HP:0000378	Cupped ear
OMIM:613406	SIN3A	25942	HP:0000252	Microcephaly
OMIM:613406	SIN3A	25942	HP:0000490	Deeply set eye
OMIM:613406	SIN3A	25942	HP:0000582	Upslanted palpebral fissure
OMIM:613406	SIN3A	25942	HP:0002705	High, narrow palate
OMIM:613406	SIN3A	25942	HP:0000430	Underdeveloped nasal alae
OMIM:613406	SIN3A	25942	HP:0007018	Attention deficit hyperactivity disorder
OMIM:613406	SIN3A	25942	HP:0001770	Toe syndactyly
OMIM:613406	SIN3A	25942	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613150	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:613150	POMT2	29954	HP:0001250	Seizures
OMIM:613150	POMT2	29954	HP:0003812	Phenotypic variability
OMIM:613150	POMT2	29954	HP:0000540	Hypermetropia
OMIM:613150	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMT2	29954	HP:0000545	Myopia
OMIM:613150	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:613150	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMT2	29954	HP:0001302	Pachygyria
OMIM:613150	POMT2	29954	HP:0001425	Heterogeneous
OMIM:613150	POMT2	29954	HP:0003306	Spinal rigidity
OMIM:613150	POMT2	29954	HP:0000518	Cataract
OMIM:613150	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:613150	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:613150	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMT2	29954	HP:0000568	Microphthalmia
OMIM:613150	POMT2	29954	HP:0002650	Scoliosis
OMIM:613150	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:613150	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:613150	POMT2	29954	HP:0000659	Peters anomaly
OMIM:613150	POMT2	29954	HP:0000158	Macroglossia
OMIM:613150	POMT2	29954	HP:0002803	Congenital contracture
OMIM:613150	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:613150	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:613150	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMT2	29954	HP:0000252	Microcephaly
OMIM:613150	POMT2	29954	HP:0000557	Buphthalmos
OMIM:159950	ASAH1	427	HP:0003391	Gowers sign
OMIM:159950	ASAH1	427	HP:0001308	Tongue fasciculations
OMIM:159950	ASAH1	427	HP:0001336	Myoclonus
OMIM:159950	ASAH1	427	HP:0007269	Spinal muscular atrophy
OMIM:159950	ASAH1	427	HP:0000006	Autosomal dominant inheritance
OMIM:159950	ASAH1	427	HP:0000007	Autosomal recessive inheritance
OMIM:159950	ASAH1	427	HP:0003676	Progressive
OMIM:159950	ASAH1	427	HP:0008955	Progressive distal muscular atrophy
OMIM:159950	ASAH1	427	HP:0001284	Areflexia
OMIM:159950	ASAH1	427	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:159950	ASAH1	427	HP:0002123	Generalized myoclonic seizures
OMIM:159950	ASAH1	427	HP:0010628	Facial palsy
OMIM:159950	ASAH1	427	HP:0000726	Dementia
OMIM:159950	ASAH1	427	HP:0001337	Tremor
OMIM:159950	ASAH1	427	HP:0002355	Difficulty walking
OMIM:159950	ASAH1	427	HP:0003621	Juvenile onset
OMIM:159950	ASAH1	427	HP:0002359	Frequent falls
OMIM:159950	ASAH1	427	HP:0002650	Scoliosis
OMIM:159950	ASAH1	427	HP:0002398	Degeneration of anterior horn cells
OMIM:159950	ASAH1	427	HP:0002205	Recurrent respiratory infections
OMIM:159950	ASAH1	427	HP:0200136	Oral-pharyngeal dysphagia
OMIM:614678	EXOSC3	51010	HP:0001371	Flexion contracture
OMIM:614678	EXOSC3	51010	HP:0000657	Oculomotor apraxia
OMIM:614678	EXOSC3	51010	HP:0001347	Hyperreflexia
OMIM:614678	EXOSC3	51010	HP:0001263	Global developmental delay
OMIM:614678	EXOSC3	51010	HP:0002059	Cerebral atrophy
OMIM:614678	EXOSC3	51010	HP:0002827	Hip dislocation
OMIM:614678	EXOSC3	51010	HP:0002350	Cerebellar cyst
OMIM:614678	EXOSC3	51010	HP:0000007	Autosomal recessive inheritance
OMIM:614678	EXOSC3	51010	HP:0000639	Nystagmus
OMIM:614678	EXOSC3	51010	HP:0001257	Spasticity
OMIM:614678	EXOSC3	51010	HP:0002093	Respiratory insufficiency
OMIM:614678	EXOSC3	51010	HP:0012473	Tongue atrophy
OMIM:614678	EXOSC3	51010	HP:0001272	Cerebellar atrophy
OMIM:614678	EXOSC3	51010	HP:0001290	Generalized hypotonia
OMIM:614678	EXOSC3	51010	HP:0003202	Skeletal muscle atrophy
OMIM:614678	EXOSC3	51010	HP:0000253	Progressive microcephaly
OMIM:614678	EXOSC3	51010	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	EXOSC3	51010	HP:0001760	Abnormality of the foot
OMIM:614678	EXOSC3	51010	HP:0003828	Variable expressivity
OMIM:614678	EXOSC3	51010	HP:0001344	Absent speech
OMIM:614678	EXOSC3	51010	HP:0002421	Poor head control
OMIM:614678	EXOSC3	51010	HP:0001308	Tongue fasciculations
OMIM:614678	EXOSC3	51010	HP:0001510	Growth delay
OMIM:614678	EXOSC3	51010	HP:0003577	Congenital onset
OMIM:614678	EXOSC3	51010	HP:0000486	Strabismus
OMIM:614678	EXOSC3	51010	HP:0011968	Feeding difficulties
OMIM:602535	NFIX	4784	HP:0001643	Patent ductus arteriosus
OMIM:602535	NFIX	4784	HP:0003100	Slender long bone
OMIM:602535	NFIX	4784	HP:0040079	Irregular dentition
OMIM:602535	NFIX	4784	HP:0000162	Glossoptosis
OMIM:602535	NFIX	4784	HP:0003745	Sporadic
OMIM:602535	NFIX	4784	HP:0004325	Decreased body weight
OMIM:602535	NFIX	4784	HP:0011800	Midface retrusion
OMIM:602535	NFIX	4784	HP:0007227	Macrogyria
OMIM:602535	NFIX	4784	HP:0000592	Blue sclerae
OMIM:602535	NFIX	4784	HP:0002650	Scoliosis
OMIM:602535	NFIX	4784	HP:0000212	Gingival overgrowth
OMIM:602535	NFIX	4784	HP:0000574	Thick eyebrow
OMIM:602535	NFIX	4784	HP:0000369	Low-set ears
OMIM:602535	NFIX	4784	HP:0000664	Synophrys
OMIM:602535	NFIX	4784	HP:0002092	Pulmonary arterial hypertension
OMIM:602535	NFIX	4784	HP:0011220	Prominent forehead
OMIM:602535	NFIX	4784	HP:0000006	Autosomal dominant inheritance
OMIM:602535	NFIX	4784	HP:0003414	Atlantoaxial dislocation
OMIM:602535	NFIX	4784	HP:0009845	Bullet-shaped middle phalanges of the hand
OMIM:602535	NFIX	4784	HP:0000322	Short philtrum
OMIM:602535	NFIX	4784	HP:0000463	Anteverted nares
OMIM:602535	NFIX	4784	HP:0002059	Cerebral atrophy
OMIM:602535	NFIX	4784	HP:0000452	Choanal stenosis
OMIM:602535	NFIX	4784	HP:0002007	Frontal bossing
OMIM:602535	NFIX	4784	HP:0000272	Malar flattening
OMIM:602535	NFIX	4784	HP:0001539	Omphalocele
OMIM:602535	NFIX	4784	HP:0002100	Recurrent aspiration pneumonia
OMIM:602535	NFIX	4784	HP:0001601	Laryngomalacia
OMIM:602535	NFIX	4784	HP:0005280	Depressed nasal bridge
OMIM:602535	NFIX	4784	HP:0001249	Intellectual disability
OMIM:602535	NFIX	4784	HP:0000396	Overfolded helix
OMIM:602535	NFIX	4784	HP:0009882	Short distal phalanx of finger
OMIM:602535	NFIX	4784	HP:0000767	Pectus excavatum
OMIM:602535	NFIX	4784	HP:0006642	Large sternal ossification centers
OMIM:602535	NFIX	4784	HP:0001631	Atrial septal defect
OMIM:602535	NFIX	4784	HP:0001270	Motor delay
OMIM:602535	NFIX	4784	HP:0001274	Agenesis of corpus callosum
OMIM:602535	NFIX	4784	HP:0003311	Hypoplasia of the odontoid process
OMIM:602535	NFIX	4784	HP:0003778	Short mandibular rami
OMIM:602535	NFIX	4784	HP:0005616	Accelerated skeletal maturation
OMIM:602535	NFIX	4784	HP:0001290	Generalized hypotonia
OMIM:602535	NFIX	4784	HP:0000879	Short sternum
OMIM:602535	NFIX	4784	HP:0000098	Tall stature
OMIM:602535	NFIX	4784	HP:0006048	Distal widening of metacarpals
OMIM:602535	NFIX	4784	HP:0001537	Umbilical hernia
OMIM:602535	NFIX	4784	HP:0000586	Shallow orbits
OMIM:602535	NFIX	4784	HP:0012472	Eclabion
OMIM:602535	NFIX	4784	HP:0001508	Failure to thrive
OMIM:602535	NFIX	4784	HP:0000365	Hearing impairment
OMIM:602535	NFIX	4784	HP:0010759	Prominence of the premaxilla
OMIM:602535	NFIX	4784	HP:0000278	Retrognathia
OMIM:602535	NFIX	4784	HP:0002870	Obstructive sleep apnea
OMIM:602535	NFIX	4784	HP:0000453	Choanal atresia
OMIM:602535	NFIX	4784	HP:0003196	Short nose
OMIM:602535	NFIX	4784	HP:0003819	Death in childhood
OMIM:612921	OBSL1	23363	HP:0000272	Malar flattening
OMIM:612921	OBSL1	23363	HP:0000007	Autosomal recessive inheritance
OMIM:612921	OBSL1	23363	HP:0004322	Short stature
OMIM:612921	OBSL1	23363	HP:0005274	Prominent nasal tip
OMIM:103470	TYR	7299	HP:0001093	Optic nerve dysplasia
OMIM:103470	TYR	7299	HP:0001107	Ocular albinism
OMIM:103470	TYR	7299	HP:0000006	Autosomal dominant inheritance
OMIM:103470	TYR	7299	HP:0000486	Strabismus
OMIM:103470	TYR	7299	HP:0000407	Sensorineural hearing impairment
OMIM:103470	TYR	7299	HP:0000505	Visual impairment
OMIM:103470	TYR	7299	HP:0000613	Photophobia
OMIM:103470	TYR	7299	HP:0001756	Vestibular hypofunction
OMIM:103470	TYR	7299	HP:0000540	Hypermetropia
OMIM:103470	TYR	7299	HP:0001417	X-linked inheritance
OMIM:103470	TYR	7299	HP:0000639	Nystagmus
OMIM:103470	TYR	7299	HP:0005592	Giant melanosomes in melanocytes
OMIM:103470	TYR	7299	HP:0007663	Reduced visual acuity
OMIM:103470	TYR	7299	HP:0007750	Hypoplasia of the fovea
OMIM:103470	TYR	7299	HP:0001010	Hypopigmentation of the skin
OMIM:103470	TYR	7299	HP:0001003	Multiple lentigines
OMIM:103470	MITF	4286	HP:0001093	Optic nerve dysplasia
OMIM:103470	MITF	4286	HP:0001107	Ocular albinism
OMIM:103470	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:103470	MITF	4286	HP:0000486	Strabismus
OMIM:103470	MITF	4286	HP:0000407	Sensorineural hearing impairment
OMIM:103470	MITF	4286	HP:0000505	Visual impairment
OMIM:103470	MITF	4286	HP:0000613	Photophobia
OMIM:103470	MITF	4286	HP:0001756	Vestibular hypofunction
OMIM:103470	MITF	4286	HP:0000540	Hypermetropia
OMIM:103470	MITF	4286	HP:0001417	X-linked inheritance
OMIM:103470	MITF	4286	HP:0000639	Nystagmus
OMIM:103470	MITF	4286	HP:0005592	Giant melanosomes in melanocytes
OMIM:103470	MITF	4286	HP:0007663	Reduced visual acuity
OMIM:103470	MITF	4286	HP:0007750	Hypoplasia of the fovea
OMIM:103470	MITF	4286	HP:0001010	Hypopigmentation of the skin
OMIM:103470	MITF	4286	HP:0001003	Multiple lentigines
OMIM:616959	TRNT1	51095	HP:0000662	Nyctalopia
OMIM:616959	TRNT1	51095	HP:0030529	Ring scotoma
OMIM:616959	TRNT1	51095	HP:0001903	Anemia
OMIM:616959	TRNT1	51095	HP:0007722	Retinal pigment epithelial atrophy
OMIM:616959	TRNT1	51095	HP:0000007	Autosomal recessive inheritance
OMIM:616959	TRNT1	51095	HP:0001105	Retinal atrophy
OMIM:616959	TRNT1	51095	HP:0025066	Decreased mean corpuscular volume
OMIM:616959	TRNT1	51095	HP:0004445	Elliptocytosis
OMIM:616959	TRNT1	51095	HP:0011273	Anisocytosis
OMIM:616959	TRNT1	51095	HP:0000543	Optic disc pallor
OMIM:616959	TRNT1	51095	HP:0040303	Decreased serum iron
OMIM:616959	TRNT1	51095	HP:0000545	Myopia
OMIM:616959	TRNT1	51095	HP:0100014	Epiretinal membrane
OMIM:613752	AHCY	191	HP:0000164	Abnormality of the dentition
OMIM:613752	AHCY	191	HP:0001638	Cardiomyopathy
OMIM:613752	AHCY	191	HP:0003235	Hypermethioninemia
OMIM:613752	AHCY	191	HP:0001249	Intellectual disability
OMIM:613752	AHCY	191	HP:0001270	Motor delay
OMIM:613752	AHCY	191	HP:0000007	Autosomal recessive inheritance
OMIM:613752	AHCY	191	HP:0001508	Failure to thrive
OMIM:613752	AHCY	191	HP:0001999	Abnormal facial shape
OMIM:613752	AHCY	191	HP:0001263	Global developmental delay
ORPHA:2632	SHOX	6473	HP:0001191	Abnormality of the carpal bones
ORPHA:2632	SHOX	6473	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2632	SHOX	6473	HP:0006487	Bowing of the long bones
ORPHA:2632	SHOX	6473	HP:0100864	Short femoral neck
ORPHA:2632	SHOX	6473	HP:0002983	Micromelia
ORPHA:2632	SHOX	6473	HP:0009465	Ulnar deviation of finger
ORPHA:2632	SHOX	6473	HP:0006492	Aplasia/Hypoplasia of the fibula
ORPHA:2632	SHOX	6473	HP:0002997	Abnormality of the ulna
ORPHA:2632	SHOX	6473	HP:0003067	Madelung deformity
ORPHA:2632	SHOX	6473	HP:0003510	Severe short stature
ORPHA:2632	SHOX	6473	HP:0005026	Mesomelic/rhizomelic limb shortening
ORPHA:2632	SHOX	6473	HP:0000218	High palate
OMIM:616357	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:616357	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:616744	TNFAIP3	7128	HP:0000006	Autosomal dominant inheritance
ORPHA:309246	GM2A	2760	HP:0002072	Chorea
ORPHA:309246	GM2A	2760	HP:0010780	Hyperacusis
ORPHA:309246	GM2A	2760	HP:0002180	Neurodegeneration
ORPHA:309246	GM2A	2760	HP:0001250	Seizures
ORPHA:309246	GM2A	2760	HP:0002376	Developmental regression
ORPHA:309246	GM2A	2760	HP:0004322	Short stature
ORPHA:309246	GM2A	2760	HP:0009062	Infantile axial hypotonia
ORPHA:309246	GM2A	2760	HP:0007256	Abnormal pyramidal signs
ORPHA:309246	GM2A	2760	HP:0008897	Postnatal growth retardation
ORPHA:309246	GM2A	2760	HP:0002478	Progressive spastic quadriplegia
ORPHA:309246	GM2A	2760	HP:0001332	Dystonia
ORPHA:309246	GM2A	2760	HP:0000719	Inappropriate behavior
ORPHA:309246	GM2A	2760	HP:0001347	Hyperreflexia
ORPHA:309246	GM2A	2760	HP:0012547	Abnormal involuntary eye movements
ORPHA:309246	GM2A	2760	HP:0000739	Anxiety
ORPHA:309246	GM2A	2760	HP:0010729	Cherry red spot of the macula
ORPHA:309246	GM2A	2760	HP:0002371	Loss of speech
ORPHA:309246	GM2A	2760	HP:0100543	Cognitive impairment
ORPHA:309246	GM2A	2760	HP:0002059	Cerebral atrophy
ORPHA:309246	GM2A	2760	HP:0030904	Glabellar reflex
ORPHA:309246	GM2A	2760	HP:0002267	Exaggerated startle response
OMIM:602501	PIK3CA	5290	HP:0000337	Broad forehead
OMIM:602501	PIK3CA	5290	HP:0001250	Seizures
OMIM:602501	PIK3CA	5290	HP:0002119	Ventriculomegaly
OMIM:602501	PIK3CA	5290	HP:0001629	Ventricular septal defect
OMIM:602501	PIK3CA	5290	HP:0001388	Joint laxity
OMIM:602501	PIK3CA	5290	HP:0001290	Generalized hypotonia
OMIM:602501	PIK3CA	5290	HP:0000494	Downslanted palpebral fissures
OMIM:602501	PIK3CA	5290	HP:0003745	Sporadic
OMIM:602501	PIK3CA	5290	HP:0009748	Large earlobe
OMIM:602501	PIK3CA	5290	HP:0000238	Hydrocephalus
OMIM:602501	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:602501	PIK3CA	5290	HP:0002389	Cavum septum pellucidum
OMIM:602501	PIK3CA	5290	HP:0010442	Polydactyly
OMIM:602501	PIK3CA	5290	HP:0000316	Hypertelorism
OMIM:602501	PIK3CA	5290	HP:0000319	Smooth philtrum
OMIM:602501	PIK3CA	5290	HP:0001548	Overgrowth
OMIM:602501	PIK3CA	5290	HP:0002126	Polymicrogyria
OMIM:602501	PIK3CA	5290	HP:0005280	Depressed nasal bridge
OMIM:602501	PIK3CA	5290	HP:0001263	Global developmental delay
OMIM:602501	PIK3CA	5290	HP:0002667	Nephroblastoma
OMIM:602501	PIK3CA	5290	HP:0001909	Leukemia
OMIM:602501	PIK3CA	5290	HP:0002858	Meningioma
OMIM:602501	PIK3CA	5290	HP:0100790	Hernia
OMIM:602501	PIK3CA	5290	HP:0001159	Syndactyly
OMIM:602501	PIK3CA	5290	HP:0000568	Microphthalmia
OMIM:602501	PIK3CA	5290	HP:0001249	Intellectual disability
OMIM:602501	PIK3CA	5290	HP:0004481	Progressive macrocephaly
OMIM:602501	PIK3CA	5290	HP:0000965	Cutis marmorata
OMIM:602501	PIK3CA	5290	HP:0000286	Epicanthus
OMIM:602501	PIK3CA	5290	HP:0001355	Megalencephaly
OMIM:608393	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CENPJ	55835	HP:0000252	Microcephaly
OMIM:608393	CENPJ	55835	HP:0002472	Small cerebral cortex
OMIM:608393	CENPJ	55835	HP:0002342	Intellectual disability, moderate
OMIM:608393	CENPJ	55835	HP:0003577	Congenital onset
OMIM:608393	CENPJ	55835	HP:0001425	Heterogeneous
OMIM:615465	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
OMIM:615465	FGFR1	2260	HP:0100257	Ectrodactyly
OMIM:615465	FGFR1	2260	HP:0005466	Hypoplasia of the frontal bone
OMIM:615465	FGFR1	2260	HP:0003228	Hypernatremia
OMIM:615465	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:615465	FGFR1	2260	HP:0006870	Lobar holoprosencephaly
OMIM:615465	FGFR1	2260	HP:0000047	Hypospadias
OMIM:615465	FGFR1	2260	HP:0000054	Micropenis
OMIM:615465	FGFR1	2260	HP:0000358	Posteriorly rotated ears
OMIM:615465	FGFR1	2260	HP:0000175	Cleft palate
OMIM:615465	FGFR1	2260	HP:0000286	Epicanthus
OMIM:615465	FGFR1	2260	HP:0001159	Syndactyly
OMIM:615465	FGFR1	2260	HP:0008213	Gonadotropin deficiency
OMIM:615465	FGFR1	2260	HP:0000252	Microcephaly
OMIM:615465	FGFR1	2260	HP:0000204	Cleft upper lip
OMIM:615465	FGFR1	2260	HP:0000369	Low-set ears
OMIM:615465	FGFR1	2260	HP:0000873	Diabetes insipidus
OMIM:615465	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:615465	FGFR1	2260	HP:0000601	Hypotelorism
OMIM:615465	FGFR1	2260	HP:0001263	Global developmental delay
OMIM:615465	FGFR1	2260	HP:0001319	Neonatal hypotonia
OMIM:615465	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:615465	FGFR1	2260	HP:0000445	Wide nose
ORPHA:637	NF2	4771	HP:0002076	Migraine
ORPHA:637	NF2	4771	HP:0002321	Vertigo
ORPHA:637	NF2	4771	HP:0000518	Cataract
ORPHA:637	NF2	4771	HP:0001251	Ataxia
ORPHA:637	NF2	4771	HP:0000360	Tinnitus
ORPHA:637	NF2	4771	HP:0000407	Sensorineural hearing impairment
OMIM:111400	A4GALT	53947	HP:0010970	Blood group antigen abnormality
OMIM:111400	A4GALT	53947	HP:0000006	Autosomal dominant inheritance
OMIM:617188	MBOAT7	79143	HP:0003577	Congenital onset
OMIM:617188	MBOAT7	79143	HP:0001290	Generalized hypotonia
OMIM:617188	MBOAT7	79143	HP:0002126	Polymicrogyria
OMIM:617188	MBOAT7	79143	HP:0007359	Focal seizures
OMIM:617188	MBOAT7	79143	HP:0008936	Muscular hypotonia of the trunk
OMIM:617188	MBOAT7	79143	HP:0001263	Global developmental delay
OMIM:617188	MBOAT7	79143	HP:0002373	Febrile seizures
OMIM:617188	MBOAT7	79143	HP:0002540	Inability to walk
OMIM:617188	MBOAT7	79143	HP:0002123	Generalized myoclonic seizures
OMIM:617188	MBOAT7	79143	HP:0000007	Autosomal recessive inheritance
OMIM:612955	SNTA1	6640	HP:0005184	Prolonged QTc interval
OMIM:612955	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:612955	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:612955	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:612955	SNTA1	6640	HP:0001279	Syncope
OMIM:216360	CC2D2A	57545	HP:0008659	Multiple small medullary renal cysts
OMIM:216360	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:216360	CC2D2A	57545	HP:0001394	Cirrhosis
OMIM:216360	CC2D2A	57545	HP:0001425	Heterogeneous
OMIM:216360	CC2D2A	57545	HP:0001744	Splenomegaly
OMIM:216360	CC2D2A	57545	HP:0000083	Renal insufficiency
OMIM:216360	CC2D2A	57545	HP:0000463	Anteverted nares
OMIM:216360	CC2D2A	57545	HP:0001290	Generalized hypotonia
OMIM:216360	CC2D2A	57545	HP:0000316	Hypertelorism
OMIM:216360	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:216360	CC2D2A	57545	HP:0001409	Portal hypertension
OMIM:216360	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:216360	CC2D2A	57545	HP:0001347	Hyperreflexia
OMIM:216360	CC2D2A	57545	HP:0001257	Spasticity
OMIM:216360	CC2D2A	57545	HP:0000154	Wide mouth
OMIM:216360	CC2D2A	57545	HP:0003593	Infantile onset
OMIM:216360	CC2D2A	57545	HP:0000508	Ptosis
OMIM:216360	CC2D2A	57545	HP:0000589	Coloboma
OMIM:216360	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:216360	CC2D2A	57545	HP:0001251	Ataxia
OMIM:216360	CC2D2A	57545	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	CC2D2A	57545	HP:0002240	Hepatomegaly
OMIM:216360	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:216360	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:216360	CC2D2A	57545	HP:0001510	Growth delay
OMIM:216360	CC2D2A	57545	HP:0000657	Oculomotor apraxia
OMIM:216360	CC2D2A	57545	HP:0002342	Intellectual disability, moderate
OMIM:216360	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:216360	CC2D2A	57545	HP:0002910	Elevated hepatic transaminases
OMIM:216360	CC2D2A	57545	HP:0000311	Round face
OMIM:216360	CC2D2A	57545	HP:0001263	Global developmental delay
OMIM:216360	RPGRIP1L	23322	HP:0008659	Multiple small medullary renal cysts
OMIM:216360	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:216360	RPGRIP1L	23322	HP:0001394	Cirrhosis
OMIM:216360	RPGRIP1L	23322	HP:0001425	Heterogeneous
OMIM:216360	RPGRIP1L	23322	HP:0001744	Splenomegaly
OMIM:216360	RPGRIP1L	23322	HP:0000083	Renal insufficiency
OMIM:216360	RPGRIP1L	23322	HP:0000463	Anteverted nares
OMIM:216360	RPGRIP1L	23322	HP:0001290	Generalized hypotonia
OMIM:216360	RPGRIP1L	23322	HP:0000316	Hypertelorism
OMIM:216360	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:216360	RPGRIP1L	23322	HP:0001409	Portal hypertension
OMIM:216360	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:216360	RPGRIP1L	23322	HP:0001347	Hyperreflexia
OMIM:216360	RPGRIP1L	23322	HP:0001257	Spasticity
OMIM:216360	RPGRIP1L	23322	HP:0000154	Wide mouth
OMIM:216360	RPGRIP1L	23322	HP:0003593	Infantile onset
OMIM:216360	RPGRIP1L	23322	HP:0000508	Ptosis
OMIM:216360	RPGRIP1L	23322	HP:0000589	Coloboma
OMIM:216360	RPGRIP1L	23322	HP:0000090	Nephronophthisis
OMIM:216360	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:216360	RPGRIP1L	23322	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	RPGRIP1L	23322	HP:0002240	Hepatomegaly
OMIM:216360	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:216360	RPGRIP1L	23322	HP:0001395	Hepatic fibrosis
OMIM:216360	RPGRIP1L	23322	HP:0001510	Growth delay
OMIM:216360	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
OMIM:216360	RPGRIP1L	23322	HP:0002342	Intellectual disability, moderate
OMIM:216360	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:216360	RPGRIP1L	23322	HP:0002910	Elevated hepatic transaminases
OMIM:216360	RPGRIP1L	23322	HP:0000311	Round face
OMIM:216360	RPGRIP1L	23322	HP:0001263	Global developmental delay
OMIM:216360	TMEM67	91147	HP:0008659	Multiple small medullary renal cysts
OMIM:216360	TMEM67	91147	HP:0000639	Nystagmus
OMIM:216360	TMEM67	91147	HP:0001394	Cirrhosis
OMIM:216360	TMEM67	91147	HP:0001425	Heterogeneous
OMIM:216360	TMEM67	91147	HP:0001744	Splenomegaly
OMIM:216360	TMEM67	91147	HP:0000083	Renal insufficiency
OMIM:216360	TMEM67	91147	HP:0000463	Anteverted nares
OMIM:216360	TMEM67	91147	HP:0001290	Generalized hypotonia
OMIM:216360	TMEM67	91147	HP:0000316	Hypertelorism
OMIM:216360	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:216360	TMEM67	91147	HP:0001409	Portal hypertension
OMIM:216360	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:216360	TMEM67	91147	HP:0001347	Hyperreflexia
OMIM:216360	TMEM67	91147	HP:0001257	Spasticity
OMIM:216360	TMEM67	91147	HP:0000154	Wide mouth
OMIM:216360	TMEM67	91147	HP:0003593	Infantile onset
OMIM:216360	TMEM67	91147	HP:0000508	Ptosis
OMIM:216360	TMEM67	91147	HP:0000589	Coloboma
OMIM:216360	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:216360	TMEM67	91147	HP:0001251	Ataxia
OMIM:216360	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	TMEM67	91147	HP:0002240	Hepatomegaly
OMIM:216360	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:216360	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:216360	TMEM67	91147	HP:0001510	Growth delay
OMIM:216360	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:216360	TMEM67	91147	HP:0002342	Intellectual disability, moderate
OMIM:216360	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:216360	TMEM67	91147	HP:0002910	Elevated hepatic transaminases
OMIM:216360	TMEM67	91147	HP:0000311	Round face
OMIM:216360	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:604173	USB1	79650	HP:0001744	Splenomegaly
OMIM:604173	USB1	79650	HP:0001875	Neutropenia
OMIM:604173	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:604173	USB1	79650	HP:0000403	Recurrent otitis media
OMIM:604173	USB1	79650	HP:0006532	Recurrent pneumonia
OMIM:604173	USB1	79650	HP:0000498	Blepharitis
OMIM:604173	USB1	79650	HP:0001029	Poikiloderma
OMIM:604173	USB1	79650	HP:0004322	Short stature
OMIM:604173	USB1	79650	HP:0000509	Conjunctivitis
OMIM:610448	TREX1	11277	HP:0200042	Skin ulcer
OMIM:610448	TREX1	11277	HP:0002829	Arthralgia
OMIM:610448	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:610448	TREX1	11277	HP:0003621	Juvenile onset
OMIM:203655	HR	55806	HP:0002289	Alopecia universalis
OMIM:203655	HR	55806	HP:0000007	Autosomal recessive inheritance
OMIM:203655	HR	55806	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:615249	POMK	84197	HP:0007663	Reduced visual acuity
OMIM:615249	POMK	84197	HP:0000253	Progressive microcephaly
OMIM:615249	POMK	84197	HP:0000546	Retinal degeneration
OMIM:615249	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:615249	POMK	84197	HP:0001319	Neonatal hypotonia
OMIM:615249	POMK	84197	HP:0000252	Microcephaly
OMIM:615249	POMK	84197	HP:0001090	Large eyes
OMIM:615249	POMK	84197	HP:0000568	Microphthalmia
OMIM:615249	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:615249	POMK	84197	HP:0000518	Cataract
OMIM:615249	POMK	84197	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMK	84197	HP:0002465	Poor speech
OMIM:615249	POMK	84197	HP:0000505	Visual impairment
OMIM:615249	POMK	84197	HP:0011968	Feeding difficulties
OMIM:615249	POMK	84197	HP:0002421	Poor head control
OMIM:615249	POMK	84197	HP:0002650	Scoliosis
OMIM:615249	POMK	84197	HP:0003577	Congenital onset
OMIM:615249	POMK	84197	HP:0000589	Coloboma
OMIM:615249	POMK	84197	HP:0001371	Flexion contracture
OMIM:615249	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMK	84197	HP:0001263	Global developmental delay
OMIM:275100	TSHB	7252	HP:0001537	Umbilical hernia
OMIM:275100	TSHB	7252	HP:0006887	Intellectual disability, progressive
OMIM:275100	TSHB	7252	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:275100	TSHB	7252	HP:0001290	Generalized hypotonia
OMIM:275100	TSHB	7252	HP:0000851	Congenital hypothyroidism
OMIM:275100	TSHB	7252	HP:0001615	Hoarse cry
OMIM:275100	TSHB	7252	HP:0000260	Wide anterior fontanel
OMIM:275100	TSHB	7252	HP:0000007	Autosomal recessive inheritance
OMIM:275100	TSHB	7252	HP:0000158	Macroglossia
OMIM:275100	TSHB	7252	HP:0010864	Intellectual disability, severe
OMIM:275100	TSHB	7252	HP:0008850	Severe postnatal growth retardation
OMIM:275100	TSHB	7252	HP:0001539	Omphalocele
OMIM:275100	TSHB	7252	HP:0005280	Depressed nasal bridge
ORPHA:289916	MUT	4594	HP:0001252	Muscular hypotonia
ORPHA:289916	MUT	4594	HP:0001510	Growth delay
ORPHA:289916	MUT	4594	HP:0002098	Respiratory distress
ORPHA:289916	MUT	4594	HP:0002240	Hepatomegaly
ORPHA:289916	MUT	4594	HP:0001873	Thrombocytopenia
ORPHA:289916	MUT	4594	HP:0001263	Global developmental delay
ORPHA:289916	MUT	4594	HP:0001259	Coma
ORPHA:289916	MUT	4594	HP:0002017	Nausea and vomiting
ORPHA:289916	MUT	4594	HP:0001249	Intellectual disability
ORPHA:289916	MUT	4594	HP:0001254	Lethargy
ORPHA:79403	ITGA6	3655	HP:0002017	Nausea and vomiting
ORPHA:79403	ITGA6	3655	HP:0011100	Intestinal atresia
ORPHA:79403	ITGA6	3655	HP:0000790	Hematuria
ORPHA:79403	ITGA6	3655	HP:0001581	Recurrent skin infections
ORPHA:79403	ITGA6	3655	HP:0006297	Hypoplasia of dental enamel
ORPHA:79403	ITGA6	3655	HP:0000126	Hydronephrosis
ORPHA:79403	ITGA6	3655	HP:0100577	Urinary bladder inflammation
ORPHA:79403	ITGA6	3655	HP:0000075	Renal duplication
ORPHA:79403	ITGA6	3655	HP:0000070	Ureterocele
ORPHA:79403	ITGA6	3655	HP:0004399	Congenital pyloric atresia
ORPHA:79403	ITGA6	3655	HP:0012227	Urethral stricture
ORPHA:79403	ITGA6	3655	HP:0000110	Renal dysplasia
ORPHA:79403	ITGA6	3655	HP:0200097	Oral mucosal blisters
ORPHA:79403	ITGA6	3655	HP:0001561	Polyhydramnios
ORPHA:79403	ITGA6	3655	HP:0003270	Abdominal distention
ORPHA:79403	ITGA6	3655	HP:0010477	Aplasia of the bladder
ORPHA:79403	ITGB4	3691	HP:0002017	Nausea and vomiting
ORPHA:79403	ITGB4	3691	HP:0011100	Intestinal atresia
ORPHA:79403	ITGB4	3691	HP:0000790	Hematuria
ORPHA:79403	ITGB4	3691	HP:0001581	Recurrent skin infections
ORPHA:79403	ITGB4	3691	HP:0006297	Hypoplasia of dental enamel
ORPHA:79403	ITGB4	3691	HP:0000126	Hydronephrosis
ORPHA:79403	ITGB4	3691	HP:0100577	Urinary bladder inflammation
ORPHA:79403	ITGB4	3691	HP:0000075	Renal duplication
ORPHA:79403	ITGB4	3691	HP:0000070	Ureterocele
ORPHA:79403	ITGB4	3691	HP:0004399	Congenital pyloric atresia
ORPHA:79403	ITGB4	3691	HP:0012227	Urethral stricture
ORPHA:79403	ITGB4	3691	HP:0000110	Renal dysplasia
ORPHA:79403	ITGB4	3691	HP:0200097	Oral mucosal blisters
ORPHA:79403	ITGB4	3691	HP:0001561	Polyhydramnios
ORPHA:79403	ITGB4	3691	HP:0003270	Abdominal distention
ORPHA:79403	ITGB4	3691	HP:0010477	Aplasia of the bladder
ORPHA:35107	DHCR24	1718	HP:0000176	Submucous cleft hard palate
ORPHA:35107	DHCR24	1718	HP:0000193	Bifid uvula
ORPHA:35107	DHCR24	1718	HP:0000639	Nystagmus
ORPHA:35107	DHCR24	1718	HP:0000278	Retrognathia
ORPHA:35107	DHCR24	1718	HP:0001249	Intellectual disability
ORPHA:35107	DHCR24	1718	HP:0003196	Short nose
ORPHA:35107	DHCR24	1718	HP:0001331	Absent septum pellucidum
ORPHA:35107	DHCR24	1718	HP:0002133	Status epilepticus
ORPHA:35107	DHCR24	1718	HP:0002119	Ventriculomegaly
ORPHA:35107	DHCR24	1718	HP:0001274	Agenesis of corpus callosum
ORPHA:35107	DHCR24	1718	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:35107	DHCR24	1718	HP:0000252	Microcephaly
ORPHA:35107	DHCR24	1718	HP:0009748	Large earlobe
ORPHA:35107	DHCR24	1718	HP:0001257	Spasticity
ORPHA:35107	DHCR24	1718	HP:0000347	Micrognathia
ORPHA:35107	DHCR24	1718	HP:0002063	Rigidity
ORPHA:35107	DHCR24	1718	HP:0001508	Failure to thrive
ORPHA:35107	DHCR24	1718	HP:0000486	Strabismus
ORPHA:35107	DHCR24	1718	HP:0011968	Feeding difficulties
ORPHA:35107	DHCR24	1718	HP:0005280	Depressed nasal bridge
ORPHA:35107	DHCR24	1718	HP:0003552	Muscle stiffness
ORPHA:35107	DHCR24	1718	HP:0000160	Narrow mouth
ORPHA:35107	DHCR24	1718	HP:0003510	Severe short stature
ORPHA:35107	DHCR24	1718	HP:0001511	Intrauterine growth retardation
OMIM:613717	POLR1D	51082	HP:0000452	Choanal stenosis
OMIM:613717	POLR1D	51082	HP:0000006	Autosomal dominant inheritance
OMIM:613717	POLR1D	51082	HP:0000453	Choanal atresia
OMIM:613717	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
OMIM:613717	POLR1D	51082	HP:0000347	Micrognathia
OMIM:613717	POLR1D	51082	HP:0000175	Cleft palate
OMIM:614894	IRF8	3394	HP:0002719	Recurrent infections
OMIM:614894	IRF8	3394	HP:0003593	Infantile onset
OMIM:614894	IRF8	3394	HP:0001508	Failure to thrive
OMIM:614894	IRF8	3394	HP:0000007	Autosomal recessive inheritance
ORPHA:158684	PLEC	5339	HP:0001944	Dehydration
ORPHA:158684	PLEC	5339	HP:0000096	Glomerulosclerosis
ORPHA:158684	PLEC	5339	HP:0001057	Aplasia cutis congenita
ORPHA:158684	PLEC	5339	HP:0001561	Polyhydramnios
ORPHA:158684	PLEC	5339	HP:0001376	Limitation of joint mobility
ORPHA:158684	PLEC	5339	HP:0010477	Aplasia of the bladder
ORPHA:158684	PLEC	5339	HP:0000110	Renal dysplasia
ORPHA:158684	PLEC	5339	HP:0001508	Failure to thrive
ORPHA:158684	PLEC	5339	HP:0002015	Dysphagia
ORPHA:158684	PLEC	5339	HP:0000070	Ureterocele
ORPHA:158684	PLEC	5339	HP:0000126	Hydronephrosis
ORPHA:158684	PLEC	5339	HP:0001903	Anemia
ORPHA:158684	PLEC	5339	HP:0100806	Sepsis
ORPHA:158684	PLEC	5339	HP:0001622	Premature birth
ORPHA:158684	PLEC	5339	HP:0200097	Oral mucosal blisters
ORPHA:158684	PLEC	5339	HP:0200041	Skin erosion
ORPHA:158684	PLEC	5339	HP:0002577	Abnormality of the stomach
ORPHA:158684	ITGB4	3691	HP:0001944	Dehydration
ORPHA:158684	ITGB4	3691	HP:0000096	Glomerulosclerosis
ORPHA:158684	ITGB4	3691	HP:0001057	Aplasia cutis congenita
ORPHA:158684	ITGB4	3691	HP:0001561	Polyhydramnios
ORPHA:158684	ITGB4	3691	HP:0001376	Limitation of joint mobility
ORPHA:158684	ITGB4	3691	HP:0010477	Aplasia of the bladder
ORPHA:158684	ITGB4	3691	HP:0000110	Renal dysplasia
ORPHA:158684	ITGB4	3691	HP:0001508	Failure to thrive
ORPHA:158684	ITGB4	3691	HP:0002015	Dysphagia
ORPHA:158684	ITGB4	3691	HP:0000070	Ureterocele
ORPHA:158684	ITGB4	3691	HP:0000126	Hydronephrosis
ORPHA:158684	ITGB4	3691	HP:0001903	Anemia
ORPHA:158684	ITGB4	3691	HP:0100806	Sepsis
ORPHA:158684	ITGB4	3691	HP:0001622	Premature birth
ORPHA:158684	ITGB4	3691	HP:0200097	Oral mucosal blisters
ORPHA:158684	ITGB4	3691	HP:0200041	Skin erosion
ORPHA:158684	ITGB4	3691	HP:0002577	Abnormality of the stomach
OMIM:226400	TMC8	147138	HP:0002671	Basal cell carcinoma
OMIM:226400	TMC8	147138	HP:0200043	Verrucae
OMIM:226400	TMC8	147138	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:226400	TMC6	11322	HP:0002671	Basal cell carcinoma
OMIM:226400	TMC6	11322	HP:0200043	Verrucae
OMIM:226400	TMC6	11322	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:610725	PLCE1	51196	HP:0000097	Focal segmental glomerulosclerosis
OMIM:610725	PLCE1	51196	HP:0000007	Autosomal recessive inheritance
OMIM:610725	PLCE1	51196	HP:0000100	Nephrotic syndrome
OMIM:610725	PLCE1	51196	HP:0003073	Hypoalbuminemia
OMIM:610725	PLCE1	51196	HP:0011463	Childhood onset
OMIM:610725	PLCE1	51196	HP:0000969	Edema
OMIM:610725	PLCE1	51196	HP:0001967	Diffuse mesangial sclerosis
OMIM:610725	PLCE1	51196	HP:0000093	Proteinuria
OMIM:610725	PLCE1	51196	HP:0003774	Stage 5 chronic kidney disease
OMIM:610725	PLCE1	51196	HP:0003676	Progressive
OMIM:102700	ADA	100	HP:0000907	Anterior rib cupping
OMIM:102700	ADA	100	HP:0002850	IgM deficiency
OMIM:102700	ADA	100	HP:0001508	Failure to thrive
OMIM:102700	ADA	100	HP:0000926	Platyspondyly
OMIM:102700	ADA	100	HP:0001890	Autoimmune hemolytic anemia
OMIM:102700	ADA	100	HP:0008348	Immunoglobulin IgG2 deficiency
OMIM:102700	ADA	100	HP:0002014	Diarrhea
OMIM:102700	ADA	100	HP:0000007	Autosomal recessive inheritance
OMIM:102700	ADA	100	HP:0002720	IgA deficiency
OMIM:102700	ADA	100	HP:0012191	B-cell lymphoma
OMIM:102700	ADA	100	HP:0001442	Somatic mosaicism
OMIM:102700	ADA	100	HP:0004429	Recurrent viral infections
OMIM:102700	ADA	100	HP:0002090	Pneumonia
OMIM:102700	ADA	100	HP:0001973	Autoimmune thrombocytopenia
OMIM:102700	ADA	100	HP:0002099	Asthma
OMIM:102700	ADA	100	HP:0005424	Absent specific antibody response
OMIM:102700	ADA	100	HP:0002718	Recurrent bacterial infections
OMIM:102700	ADA	100	HP:0004430	Severe combined immunodeficiency
OMIM:102700	ADA	100	HP:0002841	Recurrent fungal infections
OMIM:102700	ADA	100	HP:0003212	Increased IgE level
OMIM:102700	ADA	100	HP:0001880	Eosinophilia
OMIM:102700	ADA	100	HP:0001967	Diffuse mesangial sclerosis
OMIM:102700	ADA	100	HP:0001744	Splenomegaly
OMIM:102700	ADA	100	HP:0005365	Severe B lymphocytopenia
OMIM:102700	ADA	100	HP:0010976	B lymphocytopenia
OMIM:102700	ADA	100	HP:0002240	Hepatomegaly
OMIM:102700	ADA	100	HP:0030273	Reduced red cell adenosine deaminase activity
OMIM:102700	ADA	100	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:102700	ADA	100	HP:0000246	Sinusitis
OMIM:102700	ADA	100	HP:0005359	Aplasia of the thymus
OMIM:162210	NF1	4763	HP:0001480	Freckling
OMIM:162210	NF1	4763	HP:0006851	Symmetric spinal nerve root neurofibromas
OMIM:162210	NF1	4763	HP:0007340	Lower limb muscle weakness
OMIM:162210	NF1	4763	HP:0002385	Paraparesis
OMIM:162210	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:162210	NF1	4763	HP:0010302	Spinal cord tumor
OMIM:162210	NF1	4763	HP:0009737	Lisch nodules
OMIM:162210	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:614860	CACNA1B	774	HP:0001288	Gait disturbance
OMIM:614860	CACNA1B	774	HP:0002356	Writer's cramp
OMIM:614860	CACNA1B	774	HP:0000473	Torticollis
OMIM:614860	CACNA1B	774	HP:0002451	Limb dystonia
OMIM:614860	CACNA1B	774	HP:0001618	Dysphonia
OMIM:614860	CACNA1B	774	HP:0003581	Adult onset
OMIM:614860	CACNA1B	774	HP:0001336	Myoclonus
OMIM:614860	CACNA1B	774	HP:0002530	Axial dystonia
OMIM:614860	CACNA1B	774	HP:0000006	Autosomal dominant inheritance
OMIM:614860	CACNA1B	774	HP:0003676	Progressive
OMIM:614860	CACNA1B	774	HP:0002346	Head tremor
OMIM:310465	POLA1	5422	HP:0000028	Cryptorchidism
OMIM:310465	POLA1	5422	HP:0000047	Hypospadias
OMIM:310465	POLA1	5422	HP:0001417	X-linked inheritance
OMIM:310465	POLA1	5422	HP:0001257	Spasticity
OMIM:310465	POLA1	5422	HP:0001909	Leukemia
OMIM:310465	POLA1	5422	HP:0003220	Abnormality of chromosome stability
OMIM:310465	POLA1	5422	HP:0000365	Hearing impairment
OMIM:310465	POLA1	5422	HP:0001249	Intellectual disability
OMIM:310465	POLA1	5422	HP:0000505	Visual impairment
OMIM:310465	POLA1	5422	HP:0002664	Neoplasm
OMIM:608133	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:608133	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPH2	5961	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPH2	5961	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:608133	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:608133	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:608133	ROM1	6094	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ROM1	6094	HP:0007830	Adult-onset night blindness
OMIM:608133	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:616839	SLC25A32	81034	HP:0003200	Ragged-red muscle fibers
OMIM:616839	SLC25A32	81034	HP:0000007	Autosomal recessive inheritance
OMIM:616839	SLC25A32	81034	HP:0003546	Exercise intolerance
ORPHA:99812	LIG4	3981	HP:0000431	Wide nasal bridge
ORPHA:99812	LIG4	3981	HP:0004430	Severe combined immunodeficiency
ORPHA:99812	LIG4	3981	HP:0001263	Global developmental delay
ORPHA:99812	LIG4	3981	HP:0003220	Abnormality of chromosome stability
ORPHA:99812	LIG4	3981	HP:0001249	Intellectual disability
ORPHA:99812	LIG4	3981	HP:0001510	Growth delay
ORPHA:99812	LIG4	3981	HP:0000320	Bird-like facies
ORPHA:99812	LIG4	3981	HP:0000252	Microcephaly
ORPHA:99812	LIG4	3981	HP:0000992	Cutaneous photosensitivity
ORPHA:99812	LIG4	3981	HP:0010783	Erythema
ORPHA:99812	LIG4	3981	HP:0000294	Low anterior hairline
ORPHA:99812	LIG4	3981	HP:0004422	Biparietal narrowing
ORPHA:99812	LIG4	3981	HP:0002665	Lymphoma
ORPHA:99812	LIG4	3981	HP:0000582	Upslanted palpebral fissure
ORPHA:99812	LIG4	3981	HP:0000286	Epicanthus
ORPHA:99812	LIG4	3981	HP:0003683	Large beaked nose
ORPHA:99812	LIG4	3981	HP:0001876	Pancytopenia
ORPHA:99812	LIG4	3981	HP:0000347	Micrognathia
ORPHA:99812	LIG4	3981	HP:0000506	Telecanthus
ORPHA:99812	LIG4	3981	HP:0002488	Acute leukemia
ORPHA:99812	LIG4	3981	HP:0000233	Thin vermilion border
ORPHA:99812	LIG4	3981	HP:0000248	Brachycephaly
ORPHA:99812	XRCC4	7518	HP:0000431	Wide nasal bridge
ORPHA:99812	XRCC4	7518	HP:0004430	Severe combined immunodeficiency
ORPHA:99812	XRCC4	7518	HP:0001263	Global developmental delay
ORPHA:99812	XRCC4	7518	HP:0003220	Abnormality of chromosome stability
ORPHA:99812	XRCC4	7518	HP:0001249	Intellectual disability
ORPHA:99812	XRCC4	7518	HP:0001510	Growth delay
ORPHA:99812	XRCC4	7518	HP:0000320	Bird-like facies
ORPHA:99812	XRCC4	7518	HP:0000252	Microcephaly
ORPHA:99812	XRCC4	7518	HP:0000992	Cutaneous photosensitivity
ORPHA:99812	XRCC4	7518	HP:0010783	Erythema
ORPHA:99812	XRCC4	7518	HP:0000294	Low anterior hairline
ORPHA:99812	XRCC4	7518	HP:0004422	Biparietal narrowing
ORPHA:99812	XRCC4	7518	HP:0002665	Lymphoma
ORPHA:99812	XRCC4	7518	HP:0000582	Upslanted palpebral fissure
ORPHA:99812	XRCC4	7518	HP:0000286	Epicanthus
ORPHA:99812	XRCC4	7518	HP:0003683	Large beaked nose
ORPHA:99812	XRCC4	7518	HP:0001876	Pancytopenia
ORPHA:99812	XRCC4	7518	HP:0000347	Micrognathia
ORPHA:99812	XRCC4	7518	HP:0000506	Telecanthus
ORPHA:99812	XRCC4	7518	HP:0002488	Acute leukemia
ORPHA:99812	XRCC4	7518	HP:0000233	Thin vermilion border
ORPHA:99812	XRCC4	7518	HP:0000248	Brachycephaly
ORPHA:217385	PAFAH1B1	5048	HP:0000369	Low-set ears
ORPHA:217385	PAFAH1B1	5048	HP:0001252	Muscular hypotonia
ORPHA:217385	PAFAH1B1	5048	HP:0000316	Hypertelorism
ORPHA:217385	PAFAH1B1	5048	HP:0003196	Short nose
ORPHA:217385	PAFAH1B1	5048	HP:0000445	Wide nose
ORPHA:217385	PAFAH1B1	5048	HP:0000494	Downslanted palpebral fissures
ORPHA:217385	PAFAH1B1	5048	HP:0000160	Narrow mouth
ORPHA:217385	PAFAH1B1	5048	HP:0000348	High forehead
ORPHA:217385	PAFAH1B1	5048	HP:0002007	Frontal bossing
ORPHA:217385	PAFAH1B1	5048	HP:0000470	Short neck
ORPHA:217385	PAFAH1B1	5048	HP:0001263	Global developmental delay
ORPHA:217385	YWHAE	7531	HP:0000369	Low-set ears
ORPHA:217385	YWHAE	7531	HP:0001252	Muscular hypotonia
ORPHA:217385	YWHAE	7531	HP:0000316	Hypertelorism
ORPHA:217385	YWHAE	7531	HP:0003196	Short nose
ORPHA:217385	YWHAE	7531	HP:0000445	Wide nose
ORPHA:217385	YWHAE	7531	HP:0000494	Downslanted palpebral fissures
ORPHA:217385	YWHAE	7531	HP:0000160	Narrow mouth
ORPHA:217385	YWHAE	7531	HP:0000348	High forehead
ORPHA:217385	YWHAE	7531	HP:0002007	Frontal bossing
ORPHA:217385	YWHAE	7531	HP:0000470	Short neck
ORPHA:217385	YWHAE	7531	HP:0001263	Global developmental delay
ORPHA:435628	KCNJ6	3763	HP:0002187	Intellectual disability, profound
ORPHA:435628	KCNJ6	3763	HP:0006532	Recurrent pneumonia
ORPHA:435628	KCNJ6	3763	HP:0008897	Postnatal growth retardation
ORPHA:435628	KCNJ6	3763	HP:0000252	Microcephaly
ORPHA:435628	KCNJ6	3763	HP:0009059	Congenital generalized lipodystrophy
ORPHA:435628	KCNJ6	3763	HP:0000347	Micrognathia
ORPHA:435628	KCNJ6	3763	HP:0000212	Gingival overgrowth
ORPHA:435628	KCNJ6	3763	HP:0000194	Open mouth
ORPHA:435628	KCNJ6	3763	HP:0000496	Abnormality of eye movement
ORPHA:435628	KCNJ6	3763	HP:0000446	Narrow nasal bridge
ORPHA:435628	KCNJ6	3763	HP:0009933	Narrow naris
ORPHA:435628	KCNJ6	3763	HP:0000290	Abnormality of the forehead
ORPHA:435628	KCNJ6	3763	HP:0002093	Respiratory insufficiency
ORPHA:435628	KCNJ6	3763	HP:0001371	Flexion contracture
ORPHA:435628	KCNJ6	3763	HP:0011344	Severe global developmental delay
ORPHA:435628	KCNJ6	3763	HP:0010804	Tented upper lip vermilion
ORPHA:435628	KCNJ6	3763	HP:0000322	Short philtrum
ORPHA:435628	KCNJ6	3763	HP:0002094	Dyspnea
ORPHA:435628	KCNJ6	3763	HP:0000298	Mask-like facies
ORPHA:435628	KCNJ6	3763	HP:0000218	High palate
ORPHA:435628	KCNJ6	3763	HP:0008734	Decreased testicular size
ORPHA:435628	KCNJ6	3763	HP:0001508	Failure to thrive
ORPHA:435628	KCNJ6	3763	HP:0000586	Shallow orbits
ORPHA:435628	KCNJ6	3763	HP:0002179	Opisthotonus
ORPHA:435628	KCNJ6	3763	HP:0000430	Underdeveloped nasal alae
ORPHA:435628	KCNJ6	3763	HP:0001285	Spastic tetraparesis
ORPHA:435628	KCNJ6	3763	HP:0005328	Progeroid facial appearance
ORPHA:435628	KCNJ6	3763	HP:0002650	Scoliosis
ORPHA:435628	KCNJ6	3763	HP:0000292	Loss of facial adipose tissue
ORPHA:435628	KCNJ6	3763	HP:0001090	Large eyes
ORPHA:435628	KCNJ6	3763	HP:0002781	Upper airway obstruction
ORPHA:435628	KCNJ6	3763	HP:0100678	Premature skin wrinkling
ORPHA:435628	KCNJ6	3763	HP:0010751	Dimple chin
ORPHA:435628	KCNJ6	3763	HP:0001347	Hyperreflexia
ORPHA:435628	KCNJ6	3763	HP:0001561	Polyhydramnios
ORPHA:435628	KCNJ6	3763	HP:0005274	Prominent nasal tip
OMIM:609060	GFM1	85476	HP:0000007	Autosomal recessive inheritance
OMIM:609060	GFM1	85476	HP:0002151	Increased serum lactate
OMIM:609060	GFM1	85476	HP:0002375	Hypokinesia
OMIM:609060	GFM1	85476	HP:0002490	Increased CSF lactate
OMIM:609060	GFM1	85476	HP:0000817	Poor eye contact
OMIM:609060	GFM1	85476	HP:0001942	Metabolic acidosis
OMIM:609060	GFM1	85476	HP:0003577	Congenital onset
OMIM:609060	GFM1	85476	HP:0002283	Global brain atrophy
OMIM:609060	GFM1	85476	HP:0004448	Fulminant hepatic failure
OMIM:609060	GFM1	85476	HP:0001347	Hyperreflexia
OMIM:609060	GFM1	85476	HP:0001511	Intrauterine growth retardation
OMIM:609060	GFM1	85476	HP:0000639	Nystagmus
OMIM:609060	GFM1	85476	HP:0002079	Hypoplasia of the corpus callosum
OMIM:609060	GFM1	85476	HP:0001270	Motor delay
OMIM:609060	GFM1	85476	HP:0002240	Hepatomegaly
OMIM:609060	GFM1	85476	HP:0012448	Delayed myelination
OMIM:609060	GFM1	85476	HP:0001250	Seizures
OMIM:609060	GFM1	85476	HP:0001257	Spasticity
OMIM:609060	GFM1	85476	HP:0006799	Basal ganglia cysts
OMIM:609060	GFM1	85476	HP:0000252	Microcephaly
OMIM:609060	GFM1	85476	HP:0001396	Cholestasis
OMIM:609060	GFM1	85476	HP:0011968	Feeding difficulties
OMIM:609060	GFM1	85476	HP:0008936	Muscular hypotonia of the trunk
OMIM:610629	RPS24	6229	HP:0011904	Persistence of hemoglobin F
OMIM:610629	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:610629	RPS24	6229	HP:0005518	Increased mean corpuscular volume
OMIM:610629	RPS24	6229	HP:0000465	Webbed neck
OMIM:610629	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:610629	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:616840	VPS13C	54832	HP:0002304	Akinesia
OMIM:616840	VPS13C	54832	HP:0100315	Lewy bodies
OMIM:616840	VPS13C	54832	HP:0001300	Parkinsonism
OMIM:616840	VPS13C	54832	HP:0002185	Neurofibrillary tangles
OMIM:616840	VPS13C	54832	HP:0000007	Autosomal recessive inheritance
OMIM:616840	VPS13C	54832	HP:0000726	Dementia
OMIM:616840	VPS13C	54832	HP:0002120	Cerebral cortical atrophy
OMIM:616840	VPS13C	54832	HP:0007256	Abnormal pyramidal signs
OMIM:616840	VPS13C	54832	HP:0003676	Progressive
OMIM:616840	VPS13C	54832	HP:0002322	Resting tremor
ORPHA:183713	MYD88	4615	HP:0002721	Immunodeficiency
ORPHA:183713	MYD88	4615	HP:0005406	Recurrent bacterial skin infections
OMIM:607432	PAFAH1B1	5048	HP:0001263	Global developmental delay
OMIM:607432	PAFAH1B1	5048	HP:0001250	Seizures
OMIM:607432	PAFAH1B1	5048	HP:0002365	Hypoplasia of the brainstem
OMIM:607432	PAFAH1B1	5048	HP:0002282	Heterotopia
OMIM:607432	PAFAH1B1	5048	HP:0001285	Spastic tetraparesis
OMIM:607432	PAFAH1B1	5048	HP:0005484	Postnatal microcephaly
OMIM:607432	PAFAH1B1	5048	HP:0002500	Abnormality of the cerebral white matter
OMIM:607432	PAFAH1B1	5048	HP:0001249	Intellectual disability
OMIM:607432	PAFAH1B1	5048	HP:0008936	Muscular hypotonia of the trunk
OMIM:607432	PAFAH1B1	5048	HP:0001339	Lissencephaly
OMIM:607432	PAFAH1B1	5048	HP:0001302	Pachygyria
OMIM:607432	PAFAH1B1	5048	HP:0003745	Sporadic
OMIM:607432	PAFAH1B1	5048	HP:0003828	Variable expressivity
OMIM:607432	PAFAH1B1	5048	HP:0001321	Cerebellar hypoplasia
OMIM:607432	PAFAH1B1	5048	HP:0002119	Ventriculomegaly
OMIM:613882	CNNM2	54805	HP:0001324	Muscle weakness
OMIM:613882	CNNM2	54805	HP:0002321	Vertigo
OMIM:613882	CNNM2	54805	HP:0000006	Autosomal dominant inheritance
OMIM:613882	CNNM2	54805	HP:0002917	Hypomagnesemia
OMIM:613882	CNNM2	54805	HP:0002315	Headache
OMIM:135150	FLCN	201163	HP:0000107	Renal cyst
OMIM:135150	FLCN	201163	HP:0030436	Fibrofolliculoma
OMIM:135150	FLCN	201163	HP:0005584	Renal cell carcinoma
OMIM:135150	FLCN	201163	HP:0001438	Abnormality of abdomen morphology
OMIM:135150	FLCN	201163	HP:0001012	Multiple lipomas
OMIM:135150	FLCN	201163	HP:0001595	Abnormality of the hair
OMIM:135150	FLCN	201163	HP:0000006	Autosomal dominant inheritance
OMIM:135150	FLCN	201163	HP:0002108	Spontaneous pneumothorax
OMIM:182920	MYOT	9499	HP:0002015	Dysphagia
OMIM:182920	MYOT	9499	HP:0002460	Distal muscle weakness
OMIM:182920	MYOT	9499	HP:0003202	Skeletal muscle atrophy
OMIM:182920	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:182920	MYOT	9499	HP:0003674	Onset
OMIM:182920	MYOT	9499	HP:0002515	Waddling gait
OMIM:182920	MYOT	9499	HP:0003722	Neck flexor weakness
OMIM:182920	MYOT	9499	HP:0003828	Variable expressivity
OMIM:182920	MYOT	9499	HP:0003677	Slow progression
OMIM:182920	MYOT	9499	HP:0003438	Absent Achilles reflex
OMIM:182920	MYOT	9499	HP:0001611	Nasal speech
OMIM:182920	MYOT	9499	HP:0003198	Myopathy
OMIM:182920	MYOT	9499	HP:0003701	Proximal muscle weakness
OMIM:182920	MYOT	9499	HP:0002136	Broad-based gait
OMIM:182920	MYOT	9499	HP:0007126	Proximal amyotrophy
OMIM:182920	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:185300	GNAQ	2776	HP:0007872	Choroidal hemangioma
OMIM:185300	GNAQ	2776	HP:0000256	Macrocephaly
OMIM:185300	GNAQ	2776	HP:0001250	Seizures
OMIM:185300	GNAQ	2776	HP:0001249	Intellectual disability
OMIM:185300	GNAQ	2776	HP:0002120	Cerebral cortical atrophy
OMIM:185300	GNAQ	2776	HP:0012222	Arachnoid hemangiomatosis
OMIM:185300	GNAQ	2776	HP:0000557	Buphthalmos
OMIM:185300	GNAQ	2776	HP:0000329	Facial hemangioma
OMIM:185300	GNAQ	2776	HP:0003745	Sporadic
OMIM:108900	NKX2-5	1482	HP:0001684	Secundum atrial septal defect
OMIM:108900	NKX2-5	1482	HP:0012248	Prolonged PR interval
OMIM:108900	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:108900	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:613502	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:613502	BLNK	29760	HP:0002014	Diarrhea
OMIM:613502	BLNK	29760	HP:0011109	Chronic sinusitis
OMIM:613502	BLNK	29760	HP:0006532	Recurrent pneumonia
OMIM:613502	BLNK	29760	HP:0000403	Recurrent otitis media
OMIM:613502	BLNK	29760	HP:0003593	Infantile onset
OMIM:613502	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:613502	BLNK	29760	HP:0001875	Neutropenia
OMIM:613502	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:610759	SMC3	9126	HP:0001007	Hirsutism
OMIM:610759	SMC3	9126	HP:0008872	Feeding difficulties in infancy
OMIM:610759	SMC3	9126	HP:0000545	Myopia
OMIM:610759	SMC3	9126	HP:0000664	Synophrys
OMIM:610759	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	SMC3	9126	HP:0001671	Abnormality of the cardiac septa
OMIM:610759	SMC3	9126	HP:0001642	Pulmonic stenosis
OMIM:610759	SMC3	9126	HP:0000463	Anteverted nares
OMIM:610759	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:610759	SMC3	9126	HP:0002996	Limited elbow movement
OMIM:610759	SMC3	9126	HP:0003812	Phenotypic variability
OMIM:610759	SMC3	9126	HP:0000574	Thick eyebrow
OMIM:610759	SMC3	9126	HP:0001773	Short foot
OMIM:610759	SMC3	9126	HP:0100874	Thick hair
OMIM:610759	SMC3	9126	HP:0004322	Short stature
OMIM:610759	SMC3	9126	HP:0000527	Long eyelashes
OMIM:610759	SMC3	9126	HP:0002465	Poor speech
OMIM:610759	SMC3	9126	HP:0009623	Proximal placement of thumb
OMIM:610759	SMC3	9126	HP:0000006	Autosomal dominant inheritance
OMIM:610759	SMC3	9126	HP:0000252	Microcephaly
OMIM:610759	SMC3	9126	HP:0200055	Small hand
OMIM:610759	SMC3	9126	HP:0001156	Brachydactyly
OMIM:610759	SMC3	9126	HP:0000233	Thin vermilion border
OMIM:610759	SMC3	9126	HP:0001263	Global developmental delay
OMIM:610759	SMC3	9126	HP:0100543	Cognitive impairment
OMIM:610759	SMC3	9126	HP:0000414	Bulbous nose
OMIM:610759	SMC3	9126	HP:0000218	High palate
OMIM:610759	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:610759	SMC3	9126	HP:0000248	Brachycephaly
OMIM:610759	SMC3	9126	HP:0001249	Intellectual disability
OMIM:610759	SMC3	9126	HP:0000426	Prominent nasal bridge
OMIM:610759	SMC3	9126	HP:0002714	Downturned corners of mouth
OMIM:610759	SMC3	9126	HP:0000219	Thin upper lip vermilion
ORPHA:642	NTRK1	4914	HP:0000737	Irritability
ORPHA:642	NTRK1	4914	HP:0200042	Skin ulcer
ORPHA:642	NTRK1	4914	HP:0007328	Impaired pain sensation
ORPHA:642	NTRK1	4914	HP:0001263	Global developmental delay
ORPHA:642	NTRK1	4914	HP:0100716	Self-injurious behavior
ORPHA:642	NTRK1	4914	HP:0002754	Osteomyelitis
ORPHA:642	NTRK1	4914	HP:0001249	Intellectual disability
ORPHA:251019	SATB2	23314	HP:0000218	High palate
ORPHA:251019	SATB2	23314	HP:0011968	Feeding difficulties
ORPHA:251019	SATB2	23314	HP:0000347	Micrognathia
ORPHA:251019	SATB2	23314	HP:0000369	Low-set ears
ORPHA:251019	SATB2	23314	HP:0002213	Fine hair
ORPHA:251019	SATB2	23314	HP:0001263	Global developmental delay
ORPHA:251019	SATB2	23314	HP:0000678	Dental crowding
ORPHA:251019	SATB2	23314	HP:0000750	Delayed speech and language development
ORPHA:251019	SATB2	23314	HP:0000175	Cleft palate
ORPHA:251019	SATB2	23314	HP:0000348	High forehead
ORPHA:251019	SATB2	23314	HP:0000426	Prominent nasal bridge
ORPHA:251019	SATB2	23314	HP:0010864	Intellectual disability, severe
ORPHA:251019	SATB2	23314	HP:0000233	Thin vermilion border
ORPHA:251019	SATB2	23314	HP:0001252	Muscular hypotonia
ORPHA:251019	SATB2	23314	HP:0004322	Short stature
ORPHA:85193	WNT3A	89780	HP:0002757	Recurrent fractures
ORPHA:85193	WNT3A	89780	HP:0002953	Vertebral compression fractures
ORPHA:85193	WNT3A	89780	HP:0002653	Bone pain
ORPHA:85193	WNT3A	89780	HP:0001288	Gait disturbance
ORPHA:85193	WNT3A	89780	HP:0000939	Osteoporosis
ORPHA:85193	LRP5	4041	HP:0002757	Recurrent fractures
ORPHA:85193	LRP5	4041	HP:0002953	Vertebral compression fractures
ORPHA:85193	LRP5	4041	HP:0002653	Bone pain
ORPHA:85193	LRP5	4041	HP:0001288	Gait disturbance
ORPHA:85193	LRP5	4041	HP:0000939	Osteoporosis
ORPHA:85193	DKK1	22943	HP:0002757	Recurrent fractures
ORPHA:85193	DKK1	22943	HP:0002953	Vertebral compression fractures
ORPHA:85193	DKK1	22943	HP:0002653	Bone pain
ORPHA:85193	DKK1	22943	HP:0001288	Gait disturbance
ORPHA:85193	DKK1	22943	HP:0000939	Osteoporosis
ORPHA:85193	WNT1	7471	HP:0002757	Recurrent fractures
ORPHA:85193	WNT1	7471	HP:0002953	Vertebral compression fractures
ORPHA:85193	WNT1	7471	HP:0002653	Bone pain
ORPHA:85193	WNT1	7471	HP:0001288	Gait disturbance
ORPHA:85193	WNT1	7471	HP:0000939	Osteoporosis
OMIM:275350	TCN2	6948	HP:0001896	Reticulocytopenia
OMIM:275350	TCN2	6948	HP:0004315	IgG deficiency
OMIM:275350	TCN2	6948	HP:0001251	Ataxia
OMIM:275350	TCN2	6948	HP:0002013	Vomiting
OMIM:275350	TCN2	6948	HP:0001875	Neutropenia
OMIM:275350	TCN2	6948	HP:0001972	Macrocytic anemia
OMIM:275350	TCN2	6948	HP:0000737	Irritability
OMIM:275350	TCN2	6948	HP:0001324	Muscle weakness
OMIM:275350	TCN2	6948	HP:0000007	Autosomal recessive inheritance
OMIM:275350	TCN2	6948	HP:0002720	IgA deficiency
OMIM:275350	TCN2	6948	HP:0002850	IgM deficiency
OMIM:275350	TCN2	6948	HP:0000153	Abnormality of the mouth
OMIM:275350	TCN2	6948	HP:0001254	Lethargy
OMIM:275350	TCN2	6948	HP:0001508	Failure to thrive
OMIM:275350	TCN2	6948	HP:0001980	Megaloblastic bone marrow
OMIM:275350	TCN2	6948	HP:0001876	Pancytopenia
OMIM:275350	TCN2	6948	HP:0002014	Diarrhea
OMIM:275350	TCN2	6948	HP:0012120	Methylmalonic aciduria
OMIM:275350	TCN2	6948	HP:0001249	Intellectual disability
OMIM:277460	TTPA	7274	HP:0001284	Areflexia
OMIM:277460	TTPA	7274	HP:0003124	Hypercholesterolemia
OMIM:277460	TTPA	7274	HP:0100513	Vitamin E deficiency
OMIM:277460	TTPA	7274	HP:0001114	Xanthelasma
OMIM:277460	TTPA	7274	HP:0010874	Tendon xanthomatosis
OMIM:277460	TTPA	7274	HP:0003141	Increased circulating low-density lipoprotein levels
OMIM:277460	TTPA	7274	HP:0002155	Hypertriglyceridemia
OMIM:277460	TTPA	7274	HP:0000007	Autosomal recessive inheritance
OMIM:277460	TTPA	7274	HP:0001251	Ataxia
ORPHA:1872	AIPL1	23746	HP:0000551	Abnormality of color vision
ORPHA:1872	AIPL1	23746	HP:0000662	Nyctalopia
ORPHA:1872	AIPL1	23746	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	AIPL1	23746	HP:0000613	Photophobia
ORPHA:1872	PITPNM3	83394	HP:0000551	Abnormality of color vision
ORPHA:1872	PITPNM3	83394	HP:0000662	Nyctalopia
ORPHA:1872	PITPNM3	83394	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	PITPNM3	83394	HP:0000613	Photophobia
ORPHA:1872	OPN1LW	5956	HP:0000551	Abnormality of color vision
ORPHA:1872	OPN1LW	5956	HP:0000662	Nyctalopia
ORPHA:1872	OPN1LW	5956	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	OPN1LW	5956	HP:0000613	Photophobia
ORPHA:1872	UNC119	9094	HP:0000551	Abnormality of color vision
ORPHA:1872	UNC119	9094	HP:0000662	Nyctalopia
ORPHA:1872	UNC119	9094	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	UNC119	9094	HP:0000613	Photophobia
ORPHA:1872	RPGRIP1	57096	HP:0000551	Abnormality of color vision
ORPHA:1872	RPGRIP1	57096	HP:0000662	Nyctalopia
ORPHA:1872	RPGRIP1	57096	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	RPGRIP1	57096	HP:0000613	Photophobia
ORPHA:1872	PRPH2	5961	HP:0000551	Abnormality of color vision
ORPHA:1872	PRPH2	5961	HP:0000662	Nyctalopia
ORPHA:1872	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	PRPH2	5961	HP:0000613	Photophobia
ORPHA:1872	CACNA1F	778	HP:0000551	Abnormality of color vision
ORPHA:1872	CACNA1F	778	HP:0000662	Nyctalopia
ORPHA:1872	CACNA1F	778	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	CACNA1F	778	HP:0000613	Photophobia
ORPHA:1872	PROM1	8842	HP:0000551	Abnormality of color vision
ORPHA:1872	PROM1	8842	HP:0000662	Nyctalopia
ORPHA:1872	PROM1	8842	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	PROM1	8842	HP:0000613	Photophobia
ORPHA:1872	DRAM2	128338	HP:0000551	Abnormality of color vision
ORPHA:1872	DRAM2	128338	HP:0000662	Nyctalopia
ORPHA:1872	DRAM2	128338	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	DRAM2	128338	HP:0000613	Photophobia
ORPHA:1872	CACNA2D4	93589	HP:0000551	Abnormality of color vision
ORPHA:1872	CACNA2D4	93589	HP:0000662	Nyctalopia
ORPHA:1872	CACNA2D4	93589	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	CACNA2D4	93589	HP:0000613	Photophobia
ORPHA:1872	RAB28	9364	HP:0000551	Abnormality of color vision
ORPHA:1872	RAB28	9364	HP:0000662	Nyctalopia
ORPHA:1872	RAB28	9364	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	RAB28	9364	HP:0000613	Photophobia
ORPHA:1872	RIMS1	22999	HP:0000551	Abnormality of color vision
ORPHA:1872	RIMS1	22999	HP:0000662	Nyctalopia
ORPHA:1872	RIMS1	22999	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	RIMS1	22999	HP:0000613	Photophobia
ORPHA:1872	RPGR	6103	HP:0000551	Abnormality of color vision
ORPHA:1872	RPGR	6103	HP:0000662	Nyctalopia
ORPHA:1872	RPGR	6103	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	RPGR	6103	HP:0000613	Photophobia
ORPHA:1872	ABCA4	24	HP:0000551	Abnormality of color vision
ORPHA:1872	ABCA4	24	HP:0000662	Nyctalopia
ORPHA:1872	ABCA4	24	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	ABCA4	24	HP:0000613	Photophobia
ORPHA:1872	SEMA4A	64218	HP:0000551	Abnormality of color vision
ORPHA:1872	SEMA4A	64218	HP:0000662	Nyctalopia
ORPHA:1872	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	SEMA4A	64218	HP:0000613	Photophobia
ORPHA:1872	C8ORF37	157657	HP:0000551	Abnormality of color vision
ORPHA:1872	C8ORF37	157657	HP:0000662	Nyctalopia
ORPHA:1872	C8ORF37	157657	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	C8ORF37	157657	HP:0000613	Photophobia
ORPHA:1872	OPN1MW	2652	HP:0000551	Abnormality of color vision
ORPHA:1872	OPN1MW	2652	HP:0000662	Nyctalopia
ORPHA:1872	OPN1MW	2652	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	OPN1MW	2652	HP:0000613	Photophobia
ORPHA:1872	GUCA1A	2978	HP:0000551	Abnormality of color vision
ORPHA:1872	GUCA1A	2978	HP:0000662	Nyctalopia
ORPHA:1872	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	GUCA1A	2978	HP:0000613	Photophobia
ORPHA:1872	RAX2	84839	HP:0000551	Abnormality of color vision
ORPHA:1872	RAX2	84839	HP:0000662	Nyctalopia
ORPHA:1872	RAX2	84839	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	RAX2	84839	HP:0000613	Photophobia
ORPHA:1872	CNGA3	1261	HP:0000551	Abnormality of color vision
ORPHA:1872	CNGA3	1261	HP:0000662	Nyctalopia
ORPHA:1872	CNGA3	1261	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	CNGA3	1261	HP:0000613	Photophobia
ORPHA:1872	ADAM9	8754	HP:0000551	Abnormality of color vision
ORPHA:1872	ADAM9	8754	HP:0000662	Nyctalopia
ORPHA:1872	ADAM9	8754	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	ADAM9	8754	HP:0000613	Photophobia
ORPHA:1872	CDHR1	92211	HP:0000551	Abnormality of color vision
ORPHA:1872	CDHR1	92211	HP:0000662	Nyctalopia
ORPHA:1872	CDHR1	92211	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	CDHR1	92211	HP:0000613	Photophobia
ORPHA:1872	TTLL5	23093	HP:0000551	Abnormality of color vision
ORPHA:1872	TTLL5	23093	HP:0000662	Nyctalopia
ORPHA:1872	TTLL5	23093	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	TTLL5	23093	HP:0000613	Photophobia
ORPHA:1872	GUCY2D	3000	HP:0000551	Abnormality of color vision
ORPHA:1872	GUCY2D	3000	HP:0000662	Nyctalopia
ORPHA:1872	GUCY2D	3000	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	GUCY2D	3000	HP:0000613	Photophobia
ORPHA:1872	POC1B	282809	HP:0000551	Abnormality of color vision
ORPHA:1872	POC1B	282809	HP:0000662	Nyctalopia
ORPHA:1872	POC1B	282809	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	POC1B	282809	HP:0000613	Photophobia
ORPHA:1872	CRX	1406	HP:0000551	Abnormality of color vision
ORPHA:1872	CRX	1406	HP:0000662	Nyctalopia
ORPHA:1872	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1872	CRX	1406	HP:0000613	Photophobia
OMIM:610370	NEUROG3	50674	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:610370	NEUROG3	50674	HP:0003623	Neonatal onset
OMIM:610370	NEUROG3	50674	HP:0001944	Dehydration
OMIM:610370	NEUROG3	50674	HP:0002014	Diarrhea
OMIM:610370	NEUROG3	50674	HP:0000007	Autosomal recessive inheritance
OMIM:610370	NEUROG3	50674	HP:0001508	Failure to thrive
OMIM:610370	NEUROG3	50674	HP:0002013	Vomiting
OMIM:161000	KRT14	3861	HP:0000966	Hypohidrosis
OMIM:161000	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:161000	KRT14	3861	HP:0001808	Fragile nails
OMIM:161000	KRT14	3861	HP:0007588	Reticular hyperpigmentation
OMIM:161000	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:161000	KRT14	3861	HP:0000670	Carious teeth
OMIM:161000	KRT14	3861	HP:0002046	Heat intolerance
OMIM:161000	KRT14	3861	HP:0006480	Premature loss of teeth
OMIM:615328	COG6	57511	HP:0000966	Hypohidrosis
OMIM:615328	COG6	57511	HP:0006297	Hypoplasia of dental enamel
OMIM:615328	COG6	57511	HP:0000750	Delayed speech and language development
OMIM:615328	COG6	57511	HP:0000252	Microcephaly
OMIM:615328	COG6	57511	HP:0003577	Congenital onset
OMIM:615328	COG6	57511	HP:0000670	Carious teeth
OMIM:615328	COG6	57511	HP:0000007	Autosomal recessive inheritance
OMIM:615328	COG6	57511	HP:0000972	Palmoplantar hyperkeratosis
OMIM:615328	COG6	57511	HP:0001249	Intellectual disability
OMIM:186300	HOXD13	3239	HP:0001032	Absent distal interphalangeal creases
OMIM:186300	HOXD13	3239	HP:0004692	4-5 toe syndactyly
OMIM:186300	HOXD13	3239	HP:0005867	Fused fourth and fifth metacarpals
OMIM:186300	HOXD13	3239	HP:0009473	Joint contracture of the hand
OMIM:186300	HOXD13	3239	HP:0009702	Carpal synostosis
OMIM:186300	HOXD13	3239	HP:0100490	Camptodactyly of finger
OMIM:186300	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:186300	HOXD13	3239	HP:0001156	Brachydactyly
OMIM:186300	HOXD13	3239	HP:0006185	Enlarged proximal interphalangeal joints
OMIM:186300	HOXD13	3239	HP:0009779	3-4 toe syndactyly
OMIM:186300	HOXD13	3239	HP:0010554	Cutaneous finger syndactyly
OMIM:186300	HOXD13	3239	HP:0009882	Short distal phalanx of finger
OMIM:266150	PC	5091	HP:0001250	Seizures
OMIM:266150	PC	5091	HP:0006970	Periventricular leukomalacia
OMIM:266150	PC	5091	HP:0000007	Autosomal recessive inheritance
OMIM:266150	PC	5091	HP:0001290	Generalized hypotonia
OMIM:266150	PC	5091	HP:0007190	Neuronal loss in the cerebral cortex
OMIM:266150	PC	5091	HP:0002169	Clonus
OMIM:266150	PC	5091	HP:0002049	Proximal renal tubular acidosis
OMIM:266150	PC	5091	HP:0001249	Intellectual disability
OMIM:266150	PC	5091	HP:0002151	Increased serum lactate
OMIM:266150	PC	5091	HP:0001943	Hypoglycemia
OMIM:266150	PC	5091	HP:0003128	Lactic acidosis
OMIM:266150	PC	5091	HP:0001263	Global developmental delay
OMIM:266150	PC	5091	HP:0003577	Congenital onset
OMIM:266150	PC	5091	HP:0003348	Hyperalaninemia
OMIM:266150	PC	5091	HP:0003542	Increased serum pyruvate
OMIM:266150	PC	5091	HP:0002240	Hepatomegaly
OMIM:614436	LRSAM1	90678	HP:0001284	Areflexia
OMIM:614436	LRSAM1	90678	HP:0003376	Steppage gait
OMIM:614436	LRSAM1	90678	HP:0009027	Foot dorsiflexor weakness
OMIM:614436	LRSAM1	90678	HP:0003693	Distal amyotrophy
OMIM:614436	LRSAM1	90678	HP:0000764	Peripheral axonal degeneration
OMIM:614436	LRSAM1	90678	HP:0000007	Autosomal recessive inheritance
OMIM:614436	LRSAM1	90678	HP:0001761	Pes cavus
OMIM:614436	LRSAM1	90678	HP:0006886	Impaired distal vibration sensation
OMIM:614436	LRSAM1	90678	HP:0000006	Autosomal dominant inheritance
OMIM:614436	LRSAM1	90678	HP:0002380	Fasciculations
OMIM:614436	LRSAM1	90678	HP:0002936	Distal sensory impairment
OMIM:614436	LRSAM1	90678	HP:0001265	Hyporeflexia
OMIM:614436	LRSAM1	90678	HP:0002460	Distal muscle weakness
OMIM:614436	LRSAM1	90678	HP:0003677	Slow progression
OMIM:614436	LRSAM1	90678	HP:0003829	Incomplete penetrance
OMIM:617093	IARS	3376	HP:0000252	Microcephaly
OMIM:617093	IARS	3376	HP:0000007	Autosomal recessive inheritance
OMIM:617093	IARS	3376	HP:0001290	Generalized hypotonia
OMIM:617093	IARS	3376	HP:0001249	Intellectual disability
OMIM:617093	IARS	3376	HP:0001511	Intrauterine growth retardation
OMIM:617093	IARS	3376	HP:0008897	Postnatal growth retardation
OMIM:617093	IARS	3376	HP:0001508	Failure to thrive
OMIM:617093	IARS	3376	HP:0001263	Global developmental delay
OMIM:617093	IARS	3376	HP:0003828	Variable expressivity
OMIM:617093	IARS	3376	HP:0003577	Congenital onset
OMIM:113000	ROR2	4920	HP:0011304	Broad thumb
OMIM:113000	ROR2	4920	HP:0000260	Wide anterior fontanel
OMIM:113000	ROR2	4920	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:113000	ROR2	4920	HP:0002948	Vertebral fusion
OMIM:113000	ROR2	4920	HP:0003026	Short long bone
OMIM:113000	ROR2	4920	HP:0001760	Abnormality of the foot
OMIM:113000	ROR2	4920	HP:0000696	Delayed eruption of permanent teeth
OMIM:113000	ROR2	4920	HP:0000006	Autosomal dominant inheritance
OMIM:113000	ROR2	4920	HP:0001629	Ventricular septal defect
OMIM:113000	ROR2	4920	HP:0005819	Short middle phalanx of finger
OMIM:113000	ROR2	4920	HP:0000054	Micropenis
OMIM:113000	ROR2	4920	HP:0005831	Type B brachydactyly
OMIM:113000	ROR2	4920	HP:0000270	Delayed cranial suture closure
OMIM:113000	ROR2	4920	HP:0002944	Thoracolumbar scoliosis
OMIM:113000	ROR2	4920	HP:0001798	Anonychia
OMIM:113000	ROR2	4920	HP:0002937	Hemivertebrae
OMIM:113000	ROR2	4920	HP:0004590	Hypoplastic sacrum
OMIM:113000	ROR2	4920	HP:0009473	Joint contracture of the hand
OMIM:113000	ROR2	4920	HP:0001159	Syndactyly
OMIM:113000	ROR2	4920	HP:0012385	Camptodactyly
ORPHA:313892	SOX5	6660	HP:0002711	Exaggerated median tongue furrow
ORPHA:313892	SOX5	6660	HP:0000577	Exotropia
ORPHA:313892	SOX5	6660	HP:0000750	Delayed speech and language development
ORPHA:313892	SOX5	6660	HP:0000189	Narrow palate
ORPHA:313892	SOX5	6660	HP:0430028	Hyperplasia of the maxilla
ORPHA:313892	SOX5	6660	HP:0002948	Vertebral fusion
ORPHA:313892	SOX5	6660	HP:0001249	Intellectual disability
ORPHA:313892	SOX5	6660	HP:0002007	Frontal bossing
ORPHA:313892	SOX5	6660	HP:0000768	Pectus carinatum
ORPHA:313892	SOX5	6660	HP:0000648	Optic atrophy
ORPHA:313892	SOX5	6660	HP:0000739	Anxiety
ORPHA:313892	SOX5	6660	HP:0005659	Thoracic kyphoscoliosis
ORPHA:313892	SOX5	6660	HP:0001270	Motor delay
ORPHA:313892	SOX5	6660	HP:0002938	Lumbar hyperlordosis
ORPHA:313892	SOX5	6660	HP:0004691	2-3 toe syndactyly
ORPHA:313892	SOX5	6660	HP:0000678	Dental crowding
ORPHA:313892	SOX5	6660	HP:0001252	Muscular hypotonia
ORPHA:313892	SOX5	6660	HP:0000545	Myopia
ORPHA:313892	SOX5	6660	HP:0012443	Abnormality of brain morphology
ORPHA:324	GLA	2717	HP:0002017	Nausea and vomiting
ORPHA:324	GLA	2717	HP:0001131	Corneal dystrophy
ORPHA:324	GLA	2717	HP:0001678	Atrioventricular block
ORPHA:324	GLA	2717	HP:0000083	Renal insufficiency
ORPHA:324	GLA	2717	HP:0002039	Anorexia
ORPHA:324	GLA	2717	HP:0100543	Cognitive impairment
ORPHA:324	GLA	2717	HP:0000091	Abnormality of the renal tubule
ORPHA:324	GLA	2717	HP:0001635	Congestive heart failure
ORPHA:324	GLA	2717	HP:0002097	Emphysema
ORPHA:324	GLA	2717	HP:0001646	Abnormality of the aortic valve
ORPHA:324	GLA	2717	HP:0000518	Cataract
ORPHA:324	GLA	2717	HP:0000962	Hyperkeratosis
ORPHA:324	GLA	2717	HP:0002326	Transient ischemic attack
ORPHA:324	GLA	2717	HP:0007957	Corneal opacity
ORPHA:324	GLA	2717	HP:0001482	Subcutaneous nodule
ORPHA:324	GLA	2717	HP:0012378	Fatigue
ORPHA:324	GLA	2717	HP:0004322	Short stature
ORPHA:324	GLA	2717	HP:0000280	Coarse facial features
ORPHA:324	GLA	2717	HP:0000100	Nephrotic syndrome
ORPHA:324	GLA	2717	HP:0002024	Malabsorption
ORPHA:324	GLA	2717	HP:0003326	Myalgia
ORPHA:324	GLA	2717	HP:0000823	Delayed puberty
ORPHA:324	GLA	2717	HP:0001014	Angiokeratoma
ORPHA:324	GLA	2717	HP:0002829	Arthralgia
ORPHA:324	GLA	2717	HP:0000093	Proteinuria
ORPHA:324	GLA	2717	HP:0001369	Arthritis
ORPHA:324	GLA	2717	HP:0000966	Hypohidrosis
ORPHA:324	GLA	2717	HP:0003077	Hyperlipidemia
ORPHA:324	GLA	2717	HP:0000524	Conjunctival telangiectasia
ORPHA:324	GLA	2717	HP:0001903	Anemia
ORPHA:324	GLA	2717	HP:0000790	Hematuria
ORPHA:324	GLA	2717	HP:0000112	Nephropathy
ORPHA:324	GLA	2717	HP:0001653	Mitral regurgitation
ORPHA:324	GLA	2717	HP:0002027	Abdominal pain
ORPHA:324	GLA	2717	HP:0000179	Thick lower lip vermilion
ORPHA:324	GLA	2717	HP:0100585	Telangiectasia of the skin
ORPHA:324	GLA	2717	HP:0011710	Bundle branch block
ORPHA:324	GLA	2717	HP:0000648	Optic atrophy
OMIM:255200	BIN1	274	HP:0000508	Ptosis
OMIM:255200	BIN1	274	HP:0003700	Generalized amyotrophy
OMIM:255200	BIN1	274	HP:0002515	Waddling gait
OMIM:255200	BIN1	274	HP:0002808	Kyphosis
OMIM:255200	BIN1	274	HP:0002460	Distal muscle weakness
OMIM:255200	BIN1	274	HP:0003458	EMG: myopathic abnormalities
OMIM:255200	BIN1	274	HP:0001618	Dysphonia
OMIM:255200	BIN1	274	HP:0000007	Autosomal recessive inheritance
OMIM:255200	BIN1	274	HP:0003391	Gowers sign
OMIM:255200	BIN1	274	HP:0000602	Ophthalmoplegia
OMIM:255200	BIN1	274	HP:0003327	Axial muscle weakness
OMIM:255200	BIN1	274	HP:0003674	Onset
OMIM:255200	BIN1	274	HP:0001260	Dysarthria
OMIM:255200	BIN1	274	HP:0002650	Scoliosis
OMIM:255200	BIN1	274	HP:0001270	Motor delay
OMIM:255200	BIN1	274	HP:0001284	Areflexia
OMIM:255200	BIN1	274	HP:0001319	Neonatal hypotonia
OMIM:255200	BIN1	274	HP:0010628	Facial palsy
OMIM:255200	BIN1	274	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255200	BIN1	274	HP:0001371	Flexion contracture
OMIM:255200	BIN1	274	HP:0003307	Hyperlordosis
OMIM:255200	BIN1	274	HP:0008872	Feeding difficulties in infancy
ORPHA:238446	UBE3A	7337	HP:0002186	Apraxia
ORPHA:238446	UBE3A	7337	HP:0000722	Obsessive-compulsive behavior
ORPHA:238446	UBE3A	7337	HP:0000750	Delayed speech and language development
ORPHA:238446	UBE3A	7337	HP:0001250	Seizures
ORPHA:238446	UBE3A	7337	HP:0000717	Autism
ORPHA:238446	UBE3A	7337	HP:0001252	Muscular hypotonia
ORPHA:238446	UBE3A	7337	HP:0001249	Intellectual disability
ORPHA:238446	UBE3A	7337	HP:0001263	Global developmental delay
ORPHA:238446	UBE3A	7337	HP:0004209	Clinodactyly of the 5th finger
ORPHA:238446	UBE3A	7337	HP:0007018	Attention deficit hyperactivity disorder
OMIM:614934	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614934	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
ORPHA:3287	MLX	6945	HP:0001945	Fever
ORPHA:3287	MLX	6945	HP:0002076	Migraine
ORPHA:3287	MLX	6945	HP:0002793	Abnormal pattern of respiration
ORPHA:3287	MLX	6945	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:3287	MLX	6945	HP:0001482	Subcutaneous nodule
ORPHA:3287	MLX	6945	HP:0002633	Vasculitis
ORPHA:3287	MLX	6945	HP:0100533	Inflammatory abnormality of the eye
ORPHA:3287	MLX	6945	HP:0001324	Muscle weakness
ORPHA:3287	MLX	6945	HP:0001824	Weight loss
ORPHA:3287	MLX	6945	HP:0002617	Dilatation
ORPHA:3287	MLX	6945	HP:0100735	Hypertensive crisis
ORPHA:3287	MLX	6945	HP:0001250	Seizures
ORPHA:3287	MLX	6945	HP:0002092	Pulmonary arterial hypertension
ORPHA:3287	MLX	6945	HP:0002039	Anorexia
ORPHA:3287	MLX	6945	HP:0001658	Myocardial infarction
ORPHA:3287	MLX	6945	HP:0001903	Anemia
ORPHA:3287	MLX	6945	HP:0100749	Chest pain
ORPHA:3287	MLX	6945	HP:0200042	Skin ulcer
ORPHA:3287	MLX	6945	HP:0005111	Dilatation of the ascending aorta
ORPHA:3287	MLX	6945	HP:0001369	Arthritis
ORPHA:3287	MLX	6945	HP:0012378	Fatigue
ORPHA:3287	MLX	6945	HP:0100758	Gangrene
ORPHA:3287	MLX	6945	HP:0001646	Abnormality of the aortic valve
ORPHA:3287	MLX	6945	HP:0000975	Hyperhidrosis
ORPHA:3287	MLX	6945	HP:0003326	Myalgia
ORPHA:3287	HLA-B	3106	HP:0001945	Fever
ORPHA:3287	HLA-B	3106	HP:0002076	Migraine
ORPHA:3287	HLA-B	3106	HP:0002793	Abnormal pattern of respiration
ORPHA:3287	HLA-B	3106	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:3287	HLA-B	3106	HP:0001482	Subcutaneous nodule
ORPHA:3287	HLA-B	3106	HP:0002633	Vasculitis
ORPHA:3287	HLA-B	3106	HP:0100533	Inflammatory abnormality of the eye
ORPHA:3287	HLA-B	3106	HP:0001324	Muscle weakness
ORPHA:3287	HLA-B	3106	HP:0001824	Weight loss
ORPHA:3287	HLA-B	3106	HP:0002617	Dilatation
ORPHA:3287	HLA-B	3106	HP:0100735	Hypertensive crisis
ORPHA:3287	HLA-B	3106	HP:0001250	Seizures
ORPHA:3287	HLA-B	3106	HP:0002092	Pulmonary arterial hypertension
ORPHA:3287	HLA-B	3106	HP:0002039	Anorexia
ORPHA:3287	HLA-B	3106	HP:0001658	Myocardial infarction
ORPHA:3287	HLA-B	3106	HP:0001903	Anemia
ORPHA:3287	HLA-B	3106	HP:0100749	Chest pain
ORPHA:3287	HLA-B	3106	HP:0200042	Skin ulcer
ORPHA:3287	HLA-B	3106	HP:0005111	Dilatation of the ascending aorta
ORPHA:3287	HLA-B	3106	HP:0001369	Arthritis
ORPHA:3287	HLA-B	3106	HP:0012378	Fatigue
ORPHA:3287	HLA-B	3106	HP:0100758	Gangrene
ORPHA:3287	HLA-B	3106	HP:0001646	Abnormality of the aortic valve
ORPHA:3287	HLA-B	3106	HP:0000975	Hyperhidrosis
ORPHA:3287	HLA-B	3106	HP:0003326	Myalgia
ORPHA:3287	IL12B	3593	HP:0001945	Fever
ORPHA:3287	IL12B	3593	HP:0002076	Migraine
ORPHA:3287	IL12B	3593	HP:0002793	Abnormal pattern of respiration
ORPHA:3287	IL12B	3593	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:3287	IL12B	3593	HP:0001482	Subcutaneous nodule
ORPHA:3287	IL12B	3593	HP:0002633	Vasculitis
ORPHA:3287	IL12B	3593	HP:0100533	Inflammatory abnormality of the eye
ORPHA:3287	IL12B	3593	HP:0001324	Muscle weakness
ORPHA:3287	IL12B	3593	HP:0001824	Weight loss
ORPHA:3287	IL12B	3593	HP:0002617	Dilatation
ORPHA:3287	IL12B	3593	HP:0100735	Hypertensive crisis
ORPHA:3287	IL12B	3593	HP:0001250	Seizures
ORPHA:3287	IL12B	3593	HP:0002092	Pulmonary arterial hypertension
ORPHA:3287	IL12B	3593	HP:0002039	Anorexia
ORPHA:3287	IL12B	3593	HP:0001658	Myocardial infarction
ORPHA:3287	IL12B	3593	HP:0001903	Anemia
ORPHA:3287	IL12B	3593	HP:0100749	Chest pain
ORPHA:3287	IL12B	3593	HP:0200042	Skin ulcer
ORPHA:3287	IL12B	3593	HP:0005111	Dilatation of the ascending aorta
ORPHA:3287	IL12B	3593	HP:0001369	Arthritis
ORPHA:3287	IL12B	3593	HP:0012378	Fatigue
ORPHA:3287	IL12B	3593	HP:0100758	Gangrene
ORPHA:3287	IL12B	3593	HP:0001646	Abnormality of the aortic valve
ORPHA:3287	IL12B	3593	HP:0000975	Hyperhidrosis
ORPHA:3287	IL12B	3593	HP:0003326	Myalgia
ORPHA:812	NEU1	4758	HP:0001324	Muscle weakness
ORPHA:812	NEU1	4758	HP:0002007	Frontal bossing
ORPHA:812	NEU1	4758	HP:0000488	Retinopathy
ORPHA:812	NEU1	4758	HP:0100790	Hernia
ORPHA:812	NEU1	4758	HP:0002167	Neurological speech impairment
ORPHA:812	NEU1	4758	HP:0002652	Skeletal dysplasia
ORPHA:812	NEU1	4758	HP:0000639	Nystagmus
ORPHA:812	NEU1	4758	HP:0000762	Decreased nerve conduction velocity
ORPHA:812	NEU1	4758	HP:0003202	Skeletal muscle atrophy
ORPHA:812	NEU1	4758	HP:0000962	Hyperkeratosis
ORPHA:812	NEU1	4758	HP:0001251	Ataxia
ORPHA:812	NEU1	4758	HP:0000407	Sensorineural hearing impairment
ORPHA:812	NEU1	4758	HP:0001252	Muscular hypotonia
ORPHA:812	NEU1	4758	HP:0001350	Slurred speech
ORPHA:812	NEU1	4758	HP:0004322	Short stature
ORPHA:812	NEU1	4758	HP:0000179	Thick lower lip vermilion
ORPHA:812	NEU1	4758	HP:0000768	Pectus carinatum
ORPHA:812	NEU1	4758	HP:0002353	EEG abnormality
ORPHA:812	NEU1	4758	HP:0000943	Dysostosis multiplex
ORPHA:812	NEU1	4758	HP:0002650	Scoliosis
ORPHA:812	NEU1	4758	HP:0003355	Aminoaciduria
ORPHA:812	NEU1	4758	HP:0012061	Urinary excretion of sialylated oligosaccharides
ORPHA:812	NEU1	4758	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:812	NEU1	4758	HP:0003461	Increased urinary O-linked sialopeptides
ORPHA:812	NEU1	4758	HP:0000280	Coarse facial features
ORPHA:812	NEU1	4758	HP:0001336	Myoclonus
ORPHA:812	NEU1	4758	HP:0010306	Short thorax
ORPHA:812	NEU1	4758	HP:0001249	Intellectual disability
ORPHA:812	NEU1	4758	HP:0000431	Wide nasal bridge
ORPHA:812	NEU1	4758	HP:0001337	Tremor
ORPHA:812	NEU1	4758	HP:0002750	Delayed skeletal maturation
ORPHA:812	NEU1	4758	HP:0000505	Visual impairment
ORPHA:812	NEU1	4758	HP:0001744	Splenomegaly
ORPHA:812	NEU1	4758	HP:0000529	Progressive visual loss
ORPHA:812	NEU1	4758	HP:0011276	Vascular skin abnormality
ORPHA:812	NEU1	4758	HP:0007957	Corneal opacity
ORPHA:812	NEU1	4758	HP:0001250	Seizures
ORPHA:812	NEU1	4758	HP:0001288	Gait disturbance
ORPHA:812	NEU1	4758	HP:0010729	Cherry red spot of the macula
OMIM:300673	MECP2	4204	HP:0001347	Hyperreflexia
OMIM:300673	MECP2	4204	HP:0002126	Polymicrogyria
OMIM:300673	MECP2	4204	HP:0001250	Seizures
OMIM:300673	MECP2	4204	HP:0010864	Intellectual disability, severe
OMIM:300673	MECP2	4204	HP:0002093	Respiratory insufficiency
OMIM:300673	MECP2	4204	HP:0001336	Myoclonus
OMIM:300673	MECP2	4204	HP:0000253	Progressive microcephaly
OMIM:300673	MECP2	4204	HP:0002063	Rigidity
OMIM:300673	MECP2	4204	HP:0001298	Encephalopathy
OMIM:300673	MECP2	4204	HP:0007110	Central hypoventilation
OMIM:300673	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:300673	MECP2	4204	HP:0001508	Failure to thrive
OMIM:300673	MECP2	4204	HP:0006887	Intellectual disability, progressive
OMIM:300673	MECP2	4204	HP:0002353	EEG abnormality
OMIM:300673	MECP2	4204	HP:0008936	Muscular hypotonia of the trunk
OMIM:300673	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300673	MECP2	4204	HP:0003577	Congenital onset
OMIM:300673	MECP2	4204	HP:0008872	Feeding difficulties in infancy
OMIM:300673	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300673	MECP2	4204	HP:0002104	Apnea
ORPHA:2849	DIS3L2	129563	HP:0001328	Specific learning disability
ORPHA:2849	DIS3L2	129563	HP:0000286	Epicanthus
ORPHA:2849	DIS3L2	129563	HP:0000028	Cryptorchidism
ORPHA:2849	DIS3L2	129563	HP:0000278	Retrognathia
ORPHA:2849	DIS3L2	129563	HP:0003196	Short nose
ORPHA:2849	DIS3L2	129563	HP:0002667	Nephroblastoma
ORPHA:2849	DIS3L2	129563	HP:0000319	Smooth philtrum
ORPHA:2849	DIS3L2	129563	HP:0000194	Open mouth
ORPHA:2849	DIS3L2	129563	HP:0000256	Macrocephaly
ORPHA:2849	DIS3L2	129563	HP:0000490	Deeply set eye
ORPHA:2849	DIS3L2	129563	HP:0000347	Micrognathia
ORPHA:2849	DIS3L2	129563	HP:0000187	Broad alveolar ridges
ORPHA:2849	DIS3L2	129563	HP:0000369	Low-set ears
ORPHA:2849	DIS3L2	129563	HP:0000431	Wide nasal bridge
ORPHA:2849	DIS3L2	129563	HP:0001252	Muscular hypotonia
ORPHA:2849	DIS3L2	129563	HP:0001263	Global developmental delay
ORPHA:2849	DIS3L2	129563	HP:0000098	Tall stature
ORPHA:2849	DIS3L2	129563	HP:0000391	Thickened helices
ORPHA:2849	DIS3L2	129563	HP:0000358	Posteriorly rotated ears
ORPHA:2849	DIS3L2	129563	HP:0000311	Round face
ORPHA:2849	DIS3L2	129563	HP:0001249	Intellectual disability
ORPHA:2849	DIS3L2	129563	HP:0000842	Hyperinsulinemia
ORPHA:2849	DIS3L2	129563	HP:0000348	High forehead
ORPHA:2849	DIS3L2	129563	HP:0002705	High, narrow palate
ORPHA:2849	DIS3L2	129563	HP:0000463	Anteverted nares
ORPHA:2849	DIS3L2	129563	HP:0008736	Hypoplasia of penis
ORPHA:2849	DIS3L2	129563	HP:0002240	Hepatomegaly
ORPHA:2849	DIS3L2	129563	HP:0012090	Abnormality of pancreas morphology
OMIM:245660	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:245660	LAMA3	3909	HP:0200042	Skin ulcer
OMIM:245660	LAMA3	3909	HP:0008390	Recurrent loss of toenails and fingernails
OMIM:245660	LAMA3	3909	HP:0001615	Hoarse cry
OMIM:245660	LAMA3	3909	HP:0000478	Abnormality of the eye
OMIM:245660	LAMA3	3909	HP:0000705	Amelogenesis imperfecta
OMIM:245660	LAMA3	3909	HP:0003593	Infantile onset
OMIM:245660	LAMA3	3909	HP:0001612	Weak cry
OMIM:611773	COL4A1	1282	HP:0000083	Renal insufficiency
OMIM:611773	COL4A1	1282	HP:0000573	Retinal hemorrhage
OMIM:611773	COL4A1	1282	HP:0000790	Hematuria
OMIM:611773	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:611773	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:611773	COL4A1	1282	HP:0005115	Supraventricular arrhythmia
OMIM:611773	COL4A1	1282	HP:0004944	Dilatation of the cerebral artery
OMIM:611773	COL4A1	1282	HP:0000107	Renal cyst
OMIM:611773	COL4A1	1282	HP:0030880	Raynaud phenomenon
OMIM:611773	COL4A1	1282	HP:0002352	Leukoencephalopathy
OMIM:611773	COL4A1	1282	HP:0003394	Muscle cramps
OMIM:611773	COL4A1	1282	HP:0000112	Nephropathy
OMIM:118450	JAG1	182	HP:0000110	Renal dysplasia
OMIM:118450	JAG1	182	HP:0001394	Cirrhosis
OMIM:118450	JAG1	182	HP:0002895	Papillary thyroid carcinoma
OMIM:118450	JAG1	182	HP:0009882	Short distal phalanx of finger
OMIM:118450	JAG1	182	HP:0000486	Strabismus
OMIM:118450	JAG1	182	HP:0000400	Macrotia
OMIM:118450	JAG1	182	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:118450	JAG1	182	HP:0000545	Myopia
OMIM:118450	JAG1	182	HP:0002937	Hemivertebrae
OMIM:118450	JAG1	182	HP:0005280	Depressed nasal bridge
OMIM:118450	JAG1	182	HP:0000627	Posterior embryotoxon
OMIM:118450	JAG1	182	HP:0001284	Areflexia
OMIM:118450	JAG1	182	HP:0000325	Triangular face
OMIM:118450	JAG1	182	HP:0001492	Axenfeld anomaly
OMIM:118450	JAG1	182	HP:0000585	Band keratopathy
OMIM:118450	JAG1	182	HP:0000582	Upslanted palpebral fissure
OMIM:118450	JAG1	182	HP:0001947	Renal tubular acidosis
OMIM:118450	JAG1	182	HP:0001631	Atrial septal defect
OMIM:118450	JAG1	182	HP:0001508	Failure to thrive
OMIM:118450	JAG1	182	HP:0000490	Deeply set eye
OMIM:118450	JAG1	182	HP:0000076	Vesicoureteral reflux
OMIM:118450	JAG1	182	HP:0001297	Stroke
OMIM:118450	JAG1	182	HP:0006571	Reduced number of intrahepatic bile ducts
OMIM:118450	JAG1	182	HP:0001738	Exocrine pancreatic insufficiency
OMIM:118450	JAG1	182	HP:0002910	Elevated hepatic transaminases
OMIM:118450	JAG1	182	HP:0003189	Long nose
OMIM:118450	JAG1	182	HP:0003124	Hypercholesterolemia
OMIM:118450	JAG1	182	HP:0001402	Hepatocellular carcinoma
OMIM:118450	JAG1	182	HP:0003022	Hypoplasia of the ulna
OMIM:118450	JAG1	182	HP:0003593	Infantile onset
OMIM:118450	JAG1	182	HP:0001636	Tetralogy of Fallot
OMIM:118450	JAG1	182	HP:0007702	Pigmentary retinal deposits
OMIM:118450	JAG1	182	HP:0000533	Chorioretinal atrophy
OMIM:118450	JAG1	182	HP:0001680	Coarctation of aorta
OMIM:118450	JAG1	182	HP:0000316	Hypertelorism
OMIM:118450	JAG1	182	HP:0001328	Specific learning disability
OMIM:118450	JAG1	182	HP:0000482	Microcornea
OMIM:118450	JAG1	182	HP:0001629	Ventricular septal defect
OMIM:118450	JAG1	182	HP:0002155	Hypertriglyceridemia
OMIM:118450	JAG1	182	HP:0000006	Autosomal dominant inheritance
OMIM:118450	JAG1	182	HP:0000337	Broad forehead
OMIM:118450	JAG1	182	HP:0000772	Abnormality of the ribs
OMIM:118450	JAG1	182	HP:0003829	Incomplete penetrance
OMIM:118450	JAG1	182	HP:0006579	Prolonged neonatal jaundice
OMIM:118450	JAG1	182	HP:0000089	Renal hypoplasia
OMIM:118450	JAG1	182	HP:0000518	Cataract
OMIM:118450	JAG1	182	HP:0004617	Butterfly vertebral arch
OMIM:118450	JAG1	182	HP:0008659	Multiple small medullary renal cysts
OMIM:221750	LHX3	8022	HP:0000824	Growth hormone deficiency
OMIM:221750	LHX3	8022	HP:0004322	Short stature
OMIM:221750	LHX3	8022	HP:0010627	Anterior pituitary hypoplasia
OMIM:221750	LHX3	8022	HP:0000007	Autosomal recessive inheritance
OMIM:221750	LHX3	8022	HP:0008213	Gonadotropin deficiency
OMIM:221750	LHX3	8022	HP:0001249	Intellectual disability
OMIM:221750	LHX3	8022	HP:0000839	Pituitary dwarfism
OMIM:221750	LHX3	8022	HP:0000407	Sensorineural hearing impairment
OMIM:221750	LHX3	8022	HP:0000470	Short neck
OMIM:107970	TGFB3	7043	HP:0001645	Sudden cardiac death
OMIM:107970	TGFB3	7043	HP:0001425	Heterogeneous
OMIM:107970	TGFB3	7043	HP:0000006	Autosomal dominant inheritance
OMIM:107970	TGFB3	7043	HP:0004308	Ventricular arrhythmia
OMIM:107970	TGFB3	7043	HP:0011663	Right ventricular cardiomyopathy
OMIM:602579	MPI	4351	HP:0002243	Protein-losing enteropathy
OMIM:602579	MPI	4351	HP:0000007	Autosomal recessive inheritance
OMIM:602579	MPI	4351	HP:0001395	Hepatic fibrosis
OMIM:602579	MPI	4351	HP:0001394	Cirrhosis
OMIM:602579	MPI	4351	HP:0001399	Hepatic failure
OMIM:602579	MPI	4351	HP:0003073	Hypoalbuminemia
OMIM:602579	MPI	4351	HP:0001508	Failure to thrive
OMIM:602579	MPI	4351	HP:0001976	Reduced antithrombin III activity
OMIM:602579	MPI	4351	HP:0002013	Vomiting
OMIM:602579	MPI	4351	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:602579	MPI	4351	HP:0001929	Reduced factor XI activity
OMIM:602579	MPI	4351	HP:0002240	Hepatomegaly
OMIM:602579	MPI	4351	HP:0003642	Type I transferrin isoform profile
OMIM:602579	MPI	4351	HP:0011473	Villous atrophy
OMIM:602579	MPI	4351	HP:0001977	Abnormal thrombosis
OMIM:602579	MPI	4351	HP:0001290	Generalized hypotonia
OMIM:602579	MPI	4351	HP:0001892	Abnormal bleeding
OMIM:602579	MPI	4351	HP:0002014	Diarrhea
OMIM:110800	GCNT2	2651	HP:0010970	Blood group antigen abnormality
OMIM:110800	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:307200	BTK	695	HP:0000365	Hearing impairment
OMIM:307200	BTK	695	HP:0002743	Recurrent enteroviral infections
OMIM:307200	BTK	695	HP:0003139	Panhypogammaglobulinemia
OMIM:307200	BTK	695	HP:0000246	Sinusitis
OMIM:307200	BTK	695	HP:0003095	Septic arthritis
OMIM:307200	BTK	695	HP:0000509	Conjunctivitis
OMIM:307200	BTK	695	HP:0000024	Prostatitis
OMIM:307200	BTK	695	HP:0000389	Chronic otitis media
OMIM:307200	BTK	695	HP:0002014	Diarrhea
OMIM:307200	BTK	695	HP:0000824	Growth hormone deficiency
OMIM:307200	BTK	695	HP:0001287	Meningitis
OMIM:307200	BTK	695	HP:0002383	Encephalitis
OMIM:307200	BTK	695	HP:0000999	Pyoderma
OMIM:307200	BTK	695	HP:0001412	Enteroviral hepatitis
OMIM:307200	BTK	695	HP:0003729	Enteroviral dermatomyositis syndrome
OMIM:307200	BTK	695	HP:0002090	Pneumonia
OMIM:307200	BTK	695	HP:0000010	Recurrent urinary tract infections
OMIM:307200	BTK	695	HP:0001419	X-linked recessive inheritance
OMIM:307200	BTK	695	HP:0002718	Recurrent bacterial infections
OMIM:307200	BTK	695	HP:0002750	Delayed skeletal maturation
OMIM:307200	BTK	695	HP:0000031	Epididymitis
OMIM:307200	BTK	695	HP:0004322	Short stature
ORPHA:3152	SOST	50964	HP:0009838	Curved distal phalanges of the hand
ORPHA:3152	SOST	50964	HP:0001233	2-3 finger syndactyly
ORPHA:3152	SOST	50964	HP:0000366	Abnormality of the nose
ORPHA:3152	SOST	50964	HP:0000508	Ptosis
ORPHA:3152	SOST	50964	HP:0004493	Craniofacial hyperostosis
ORPHA:3152	SOST	50964	HP:0000098	Tall stature
ORPHA:3152	SOST	50964	HP:0000407	Sensorineural hearing impairment
ORPHA:3152	SOST	50964	HP:0005019	Diaphyseal thickening
ORPHA:3152	SOST	50964	HP:0010628	Facial palsy
ORPHA:3152	SOST	50964	HP:0011001	Increased bone mineral density
ORPHA:3152	SOST	50964	HP:0003103	Abnormal cortical bone morphology
ORPHA:3152	SOST	50964	HP:0100798	Fingernail dysplasia
ORPHA:3152	LRP4	4038	HP:0009838	Curved distal phalanges of the hand
ORPHA:3152	LRP4	4038	HP:0001233	2-3 finger syndactyly
ORPHA:3152	LRP4	4038	HP:0000366	Abnormality of the nose
ORPHA:3152	LRP4	4038	HP:0000508	Ptosis
ORPHA:3152	LRP4	4038	HP:0004493	Craniofacial hyperostosis
ORPHA:3152	LRP4	4038	HP:0000098	Tall stature
ORPHA:3152	LRP4	4038	HP:0000407	Sensorineural hearing impairment
ORPHA:3152	LRP4	4038	HP:0005019	Diaphyseal thickening
ORPHA:3152	LRP4	4038	HP:0010628	Facial palsy
ORPHA:3152	LRP4	4038	HP:0011001	Increased bone mineral density
ORPHA:3152	LRP4	4038	HP:0003103	Abnormal cortical bone morphology
ORPHA:3152	LRP4	4038	HP:0100798	Fingernail dysplasia
ORPHA:158029	APOE	348	HP:0000967	Petechiae
ORPHA:158029	APOE	348	HP:0001873	Thrombocytopenia
ORPHA:158029	APOE	348	HP:0002113	Pulmonary infiltrates
ORPHA:158029	APOE	348	HP:0001982	Sea-blue histiocytosis
ORPHA:158029	APOE	348	HP:0000969	Edema
ORPHA:158029	APOE	348	HP:0000498	Blepharitis
ORPHA:158029	APOE	348	HP:0100721	Mediastinal lymphadenopathy
ORPHA:158029	APOE	348	HP:0001744	Splenomegaly
ORPHA:158029	APOE	348	HP:0001482	Subcutaneous nodule
ORPHA:158029	APOE	348	HP:0002240	Hepatomegaly
ORPHA:79095	AMACR	23600	HP:0005978	Type II diabetes mellitus
ORPHA:79095	AMACR	23600	HP:0001396	Cholestasis
ORPHA:79095	AMACR	23600	HP:0002630	Fat malabsorption
ORPHA:79095	AMACR	23600	HP:0001080	Biliary tract abnormality
ORPHA:79095	AMACR	23600	HP:0009830	Peripheral neuropathy
OMIM:261000	GIF	2694	HP:0003401	Paresthesia
OMIM:261000	GIF	2694	HP:0200143	Megaloblastic erythroid hyperplasia
OMIM:261000	GIF	2694	HP:0000007	Autosomal recessive inheritance
OMIM:261000	GIF	2694	HP:0001889	Megaloblastic anemia
OMIM:261000	GIF	2694	HP:0002715	Abnormality of the immune system
OMIM:261000	GIF	2694	HP:0200118	Malabsorption of Vitamin B12
OMIM:261000	GIF	2694	HP:0002024	Malabsorption
OMIM:261000	GIF	2694	HP:0003621	Juvenile onset
OMIM:261000	GIF	2694	HP:0003474	Sensory impairment
OMIM:261000	GIF	2694	HP:0005518	Increased mean corpuscular volume
OMIM:261000	GIF	2694	HP:0005219	Absence of intrinsic factor
ORPHA:2762	GNAS	2778	HP:0010766	Ectopic calcification
ORPHA:2762	GNAS	2778	HP:0002653	Bone pain
ORPHA:2762	GNAS	2778	HP:0011987	Ectopic ossification in muscle tissue
ORPHA:2762	GNAS	2778	HP:0001376	Limitation of joint mobility
ORPHA:2762	GNAS	2778	HP:0001482	Subcutaneous nodule
ORPHA:99967	DDIT3	1649	HP:0001482	Subcutaneous nodule
ORPHA:99967	FUS	2521	HP:0001482	Subcutaneous nodule
OMIM:615363	ESR1	2099	HP:0000786	Primary amenorrhea
OMIM:615363	ESR1	2099	HP:0000833	Glucose intolerance
OMIM:615363	ESR1	2099	HP:0000013	Hypoplasia of the uterus
OMIM:615363	ESR1	2099	HP:0000938	Osteopenia
OMIM:615363	ESR1	2099	HP:0002750	Delayed skeletal maturation
OMIM:615363	ESR1	2099	HP:0000842	Hyperinsulinemia
OMIM:615363	ESR1	2099	HP:0000007	Autosomal recessive inheritance
OMIM:616418	CNNM2	54805	HP:0000252	Microcephaly
OMIM:616418	CNNM2	54805	HP:0000007	Autosomal recessive inheritance
OMIM:616418	CNNM2	54805	HP:0001249	Intellectual disability
OMIM:616418	CNNM2	54805	HP:0000006	Autosomal dominant inheritance
OMIM:616418	CNNM2	54805	HP:0001250	Seizures
OMIM:616418	CNNM2	54805	HP:0001263	Global developmental delay
OMIM:616418	CNNM2	54805	HP:0002917	Hypomagnesemia
OMIM:615274	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:615274	MIP	4284	HP:0000518	Cataract
OMIM:605462	SMO	6608	HP:0002671	Basal cell carcinoma
OMIM:605462	RASA1	5921	HP:0002671	Basal cell carcinoma
OMIM:605462	PTCH2	8643	HP:0002671	Basal cell carcinoma
OMIM:605462	PTCH1	5727	HP:0002671	Basal cell carcinoma
OMIM:614947	MTFMT	123263	HP:0000750	Delayed speech and language development
OMIM:614947	MTFMT	123263	HP:0002490	Increased CSF lactate
OMIM:614947	MTFMT	123263	HP:0002311	Incoordination
OMIM:614947	MTFMT	123263	HP:0100543	Cognitive impairment
OMIM:614947	MTFMT	123263	HP:0003812	Phenotypic variability
OMIM:614947	MTFMT	123263	HP:0000007	Autosomal recessive inheritance
OMIM:614947	MTFMT	123263	HP:0002317	Unsteady gait
OMIM:614947	MTFMT	123263	HP:0001263	Global developmental delay
OMIM:614947	MTFMT	123263	HP:0002500	Abnormality of the cerebral white matter
OMIM:310200	DMD	1756	HP:0002878	Respiratory failure
OMIM:310200	DMD	1756	HP:0003391	Gowers sign
OMIM:310200	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:310200	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:310200	DMD	1756	HP:0001635	Congestive heart failure
OMIM:310200	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310200	DMD	1756	HP:0011463	Childhood onset
OMIM:310200	DMD	1756	HP:0001290	Generalized hypotonia
OMIM:310200	DMD	1756	HP:0002515	Waddling gait
OMIM:310200	DMD	1756	HP:0001265	Hyporeflexia
OMIM:310200	DMD	1756	HP:0011675	Arrhythmia
OMIM:310200	DMD	1756	HP:0003560	Muscular dystrophy
OMIM:310200	DMD	1756	HP:0003707	Calf muscle pseudohypertrophy
OMIM:310200	DMD	1756	HP:0002791	Hypoventilation
OMIM:310200	DMD	1756	HP:0003307	Hyperlordosis
OMIM:310200	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:310200	DMD	1756	HP:0001371	Flexion contracture
OMIM:310200	DMD	1756	HP:0002650	Scoliosis
OMIM:604400	TMEM43	79188	HP:0001635	Congestive heart failure
OMIM:604400	TMEM43	79188	HP:0100749	Chest pain
OMIM:604400	TMEM43	79188	HP:0006682	Ventricular extrasystoles
OMIM:604400	TMEM43	79188	HP:0004756	Ventricular tachycardia
OMIM:604400	TMEM43	79188	HP:0011663	Right ventricular cardiomyopathy
OMIM:604400	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:604400	TMEM43	79188	HP:0001962	Palpitations
OMIM:604400	TMEM43	79188	HP:0001645	Sudden cardiac death
OMIM:604400	TMEM43	79188	HP:0006677	Prolonged QRS complex
ORPHA:640	PMP22	5376	HP:0003401	Paresthesia
ORPHA:640	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
ORPHA:640	PMP22	5376	HP:0002650	Scoliosis
OMIM:613490	SERPINA1	5265	HP:0006510	Chronic obstructive pulmonary disease
OMIM:613490	SERPINA1	5265	HP:0002910	Elevated hepatic transaminases
OMIM:613490	SERPINA1	5265	HP:0000007	Autosomal recessive inheritance
OMIM:613490	SERPINA1	5265	HP:0001402	Hepatocellular carcinoma
OMIM:613490	SERPINA1	5265	HP:0002094	Dyspnea
OMIM:616255	NPR2	4882	HP:0003508	Proportionate short stature
OMIM:616255	NPR2	4882	HP:0000006	Autosomal dominant inheritance
OMIM:300018	NR0B1	190	HP:0001417	X-linked inheritance
OMIM:300018	NR0B1	190	HP:0012245	Sex reversal
ORPHA:2590	ASAH1	427	HP:0001288	Gait disturbance
ORPHA:2590	ASAH1	427	HP:0008955	Progressive distal muscular atrophy
ORPHA:2590	ASAH1	427	HP:0002123	Generalized myoclonic seizures
ORPHA:2590	ASAH1	427	HP:0002353	EEG abnormality
ORPHA:2590	ASAH1	427	HP:0000726	Dementia
ORPHA:2590	ASAH1	427	HP:0003457	EMG abnormality
ORPHA:2590	ASAH1	427	HP:0002167	Neurological speech impairment
ORPHA:882	FAH	2184	HP:0002909	Generalized aminoaciduria
OMIM:163950	BRAF	673	HP:0000465	Webbed neck
OMIM:163950	BRAF	673	HP:0002751	Kyphoscoliosis
OMIM:163950	BRAF	673	HP:0000689	Dental malocclusion
OMIM:163950	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:163950	BRAF	673	HP:0001631	Atrial septal defect
OMIM:163950	BRAF	673	HP:0001004	Lymphedema
OMIM:163950	BRAF	673	HP:0008357	Reduced factor XIII activity
OMIM:163950	BRAF	673	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	BRAF	673	HP:0009466	Radial deviation of finger
OMIM:163950	BRAF	673	HP:0001531	Failure to thrive in infancy
OMIM:163950	BRAF	673	HP:0001425	Heterogeneous
OMIM:163950	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	BRAF	673	HP:0000914	Shield chest
OMIM:163950	BRAF	673	HP:0001680	Coarctation of aorta
OMIM:163950	BRAF	673	HP:0002705	High, narrow palate
OMIM:163950	BRAF	673	HP:0003251	Male infertility
OMIM:163950	BRAF	673	HP:0000028	Cryptorchidism
OMIM:163950	BRAF	673	HP:0002162	Low posterior hairline
OMIM:163950	BRAF	673	HP:0000325	Triangular face
OMIM:163950	BRAF	673	HP:0100697	Neurofibrosarcoma
OMIM:163950	BRAF	673	HP:0000545	Myopia
OMIM:163950	BRAF	673	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	BRAF	673	HP:0008897	Postnatal growth retardation
OMIM:163950	BRAF	673	HP:0000347	Micrognathia
OMIM:163950	BRAF	673	HP:0000917	Superior pectus carinatum
OMIM:163950	BRAF	673	HP:0002967	Cubitus valgus
OMIM:163950	BRAF	673	HP:0001156	Brachydactyly
OMIM:163950	BRAF	673	HP:0000407	Sensorineural hearing impairment
OMIM:163950	BRAF	673	HP:0100769	Synovitis
OMIM:163950	BRAF	673	HP:0030084	Clinodactyly
OMIM:163950	BRAF	673	HP:0004841	Reduced factor XII activity
OMIM:163950	BRAF	673	HP:0001892	Abnormal bleeding
OMIM:163950	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:163950	BRAF	673	HP:0004322	Short stature
OMIM:163950	BRAF	673	HP:0001643	Patent ductus arteriosus
OMIM:163950	BRAF	673	HP:0000286	Epicanthus
OMIM:163950	BRAF	673	HP:0000470	Short neck
OMIM:163950	BRAF	673	HP:0001629	Ventricular septal defect
OMIM:163950	BRAF	673	HP:0000476	Cystic hygroma
OMIM:163950	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:163950	BRAF	673	HP:0000508	Ptosis
OMIM:163950	BRAF	673	HP:0000316	Hypertelorism
OMIM:163950	MAP2K1	5604	HP:0000465	Webbed neck
OMIM:163950	MAP2K1	5604	HP:0002751	Kyphoscoliosis
OMIM:163950	MAP2K1	5604	HP:0000689	Dental malocclusion
OMIM:163950	MAP2K1	5604	HP:0000494	Downslanted palpebral fissures
OMIM:163950	MAP2K1	5604	HP:0001631	Atrial septal defect
OMIM:163950	MAP2K1	5604	HP:0001004	Lymphedema
OMIM:163950	MAP2K1	5604	HP:0008357	Reduced factor XIII activity
OMIM:163950	MAP2K1	5604	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	MAP2K1	5604	HP:0009466	Radial deviation of finger
OMIM:163950	MAP2K1	5604	HP:0001531	Failure to thrive in infancy
OMIM:163950	MAP2K1	5604	HP:0001425	Heterogeneous
OMIM:163950	MAP2K1	5604	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	MAP2K1	5604	HP:0000914	Shield chest
OMIM:163950	MAP2K1	5604	HP:0001680	Coarctation of aorta
OMIM:163950	MAP2K1	5604	HP:0002705	High, narrow palate
OMIM:163950	MAP2K1	5604	HP:0003251	Male infertility
OMIM:163950	MAP2K1	5604	HP:0000028	Cryptorchidism
OMIM:163950	MAP2K1	5604	HP:0002162	Low posterior hairline
OMIM:163950	MAP2K1	5604	HP:0000325	Triangular face
OMIM:163950	MAP2K1	5604	HP:0100697	Neurofibrosarcoma
OMIM:163950	MAP2K1	5604	HP:0000545	Myopia
OMIM:163950	MAP2K1	5604	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	MAP2K1	5604	HP:0008897	Postnatal growth retardation
OMIM:163950	MAP2K1	5604	HP:0000347	Micrognathia
OMIM:163950	MAP2K1	5604	HP:0000917	Superior pectus carinatum
OMIM:163950	MAP2K1	5604	HP:0002967	Cubitus valgus
OMIM:163950	MAP2K1	5604	HP:0001156	Brachydactyly
OMIM:163950	MAP2K1	5604	HP:0000407	Sensorineural hearing impairment
OMIM:163950	MAP2K1	5604	HP:0100769	Synovitis
OMIM:163950	MAP2K1	5604	HP:0030084	Clinodactyly
OMIM:163950	MAP2K1	5604	HP:0004841	Reduced factor XII activity
OMIM:163950	MAP2K1	5604	HP:0001892	Abnormal bleeding
OMIM:163950	MAP2K1	5604	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	MAP2K1	5604	HP:0001642	Pulmonic stenosis
OMIM:163950	MAP2K1	5604	HP:0004322	Short stature
OMIM:163950	MAP2K1	5604	HP:0001643	Patent ductus arteriosus
OMIM:163950	MAP2K1	5604	HP:0000286	Epicanthus
OMIM:163950	MAP2K1	5604	HP:0000470	Short neck
OMIM:163950	MAP2K1	5604	HP:0001629	Ventricular septal defect
OMIM:163950	MAP2K1	5604	HP:0000476	Cystic hygroma
OMIM:163950	MAP2K1	5604	HP:0000006	Autosomal dominant inheritance
OMIM:163950	MAP2K1	5604	HP:0000508	Ptosis
OMIM:163950	MAP2K1	5604	HP:0000316	Hypertelorism
OMIM:163950	PTPN11	5781	HP:0000465	Webbed neck
OMIM:163950	PTPN11	5781	HP:0002751	Kyphoscoliosis
OMIM:163950	PTPN11	5781	HP:0000689	Dental malocclusion
OMIM:163950	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:163950	PTPN11	5781	HP:0001631	Atrial septal defect
OMIM:163950	PTPN11	5781	HP:0001004	Lymphedema
OMIM:163950	PTPN11	5781	HP:0008357	Reduced factor XIII activity
OMIM:163950	PTPN11	5781	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	PTPN11	5781	HP:0009466	Radial deviation of finger
OMIM:163950	PTPN11	5781	HP:0001531	Failure to thrive in infancy
OMIM:163950	PTPN11	5781	HP:0001425	Heterogeneous
OMIM:163950	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	PTPN11	5781	HP:0000914	Shield chest
OMIM:163950	PTPN11	5781	HP:0001680	Coarctation of aorta
OMIM:163950	PTPN11	5781	HP:0002705	High, narrow palate
OMIM:163950	PTPN11	5781	HP:0003251	Male infertility
OMIM:163950	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:163950	PTPN11	5781	HP:0002162	Low posterior hairline
OMIM:163950	PTPN11	5781	HP:0000325	Triangular face
OMIM:163950	PTPN11	5781	HP:0100697	Neurofibrosarcoma
OMIM:163950	PTPN11	5781	HP:0000545	Myopia
OMIM:163950	PTPN11	5781	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	PTPN11	5781	HP:0008897	Postnatal growth retardation
OMIM:163950	PTPN11	5781	HP:0000347	Micrognathia
OMIM:163950	PTPN11	5781	HP:0000917	Superior pectus carinatum
OMIM:163950	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:163950	PTPN11	5781	HP:0001156	Brachydactyly
OMIM:163950	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
OMIM:163950	PTPN11	5781	HP:0100769	Synovitis
OMIM:163950	PTPN11	5781	HP:0030084	Clinodactyly
OMIM:163950	PTPN11	5781	HP:0004841	Reduced factor XII activity
OMIM:163950	PTPN11	5781	HP:0001892	Abnormal bleeding
OMIM:163950	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:163950	PTPN11	5781	HP:0004322	Short stature
OMIM:163950	PTPN11	5781	HP:0001643	Patent ductus arteriosus
OMIM:163950	PTPN11	5781	HP:0000286	Epicanthus
OMIM:163950	PTPN11	5781	HP:0000470	Short neck
OMIM:163950	PTPN11	5781	HP:0001629	Ventricular septal defect
OMIM:163950	PTPN11	5781	HP:0000476	Cystic hygroma
OMIM:163950	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:163950	PTPN11	5781	HP:0000508	Ptosis
OMIM:163950	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:610185	WDR81	124997	HP:0010864	Intellectual disability, severe
OMIM:610185	WDR81	124997	HP:0001263	Global developmental delay
OMIM:610185	WDR81	124997	HP:0004279	Short palm
OMIM:610185	WDR81	124997	HP:0000464	Abnormality of the neck
OMIM:610185	WDR81	124997	HP:0001260	Dysarthria
OMIM:610185	WDR81	124997	HP:0000007	Autosomal recessive inheritance
OMIM:610185	WDR81	124997	HP:0002075	Dysdiadochokinesis
OMIM:610185	WDR81	124997	HP:0001337	Tremor
OMIM:610185	WDR81	124997	HP:0001310	Dysmetria
OMIM:610185	WDR81	124997	HP:0003593	Infantile onset
OMIM:610185	WDR81	124997	HP:0001272	Cerebellar atrophy
OMIM:610185	WDR81	124997	HP:0200055	Small hand
OMIM:610185	WDR81	124997	HP:0007047	Atrophy of the dentate nucleus
OMIM:610185	WDR81	124997	HP:0002943	Thoracic scoliosis
OMIM:610185	WDR81	124997	HP:0000750	Delayed speech and language development
OMIM:610185	WDR81	124997	HP:0006887	Intellectual disability, progressive
OMIM:610185	WDR81	124997	HP:0000280	Coarse facial features
OMIM:610185	WDR81	124997	HP:0001321	Cerebellar hypoplasia
OMIM:610185	WDR81	124997	HP:0002283	Global brain atrophy
OMIM:610185	WDR81	124997	HP:0007063	Aplasia of the inferior half of the cerebellar vermis
OMIM:610185	WDR81	124997	HP:0000486	Strabismus
OMIM:610185	WDR81	124997	HP:0002942	Thoracic kyphosis
OMIM:610185	WDR81	124997	HP:0001773	Short foot
OMIM:610185	WDR81	124997	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610185	WDR81	124997	HP:0004322	Short stature
OMIM:610185	WDR81	124997	HP:0001007	Hirsutism
OMIM:610185	WDR81	124997	HP:0001265	Hyporeflexia
OMIM:610185	WDR81	124997	HP:0002078	Truncal ataxia
OMIM:600638	TUBB3	10381	HP:0001491	Congenital fibrosis of extraocular muscles
OMIM:600638	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:600638	TUBB3	10381	HP:0000646	Amblyopia
OMIM:600638	TUBB3	10381	HP:0007831	Nonprogressive restrictive external ophthalmoplegia
OMIM:600638	TUBB3	10381	HP:0000577	Exotropia
OMIM:600638	TUBB3	10381	HP:0000508	Ptosis
OMIM:600638	TUBB3	10381	HP:0012242	Superior rectus atrophy
OMIM:600638	TUBB3	10381	HP:0001477	Compensatory chin elevation
OMIM:600638	TUBB3	10381	HP:0003812	Phenotypic variability
OMIM:600638	TUBB3	10381	HP:0012241	Levator palpebrae superioris atrophy
OMIM:609141	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:609141	ZEB1	6935	HP:0012038	Corneal guttata
OMIM:609141	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:614621	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:614621	ERCC8	1161	HP:0001480	Freckling
OMIM:614621	ERCC8	1161	HP:0003224	Increased cellular sensitivity to UV light
OMIM:614621	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:614621	ERCC8	1161	HP:0003593	Infantile onset
OMIM:608984	RNF170	81790	HP:0003409	Distal sensory impairment of all modalities
OMIM:608984	RNF170	81790	HP:0003581	Adult onset
OMIM:608984	RNF170	81790	HP:0001284	Areflexia
OMIM:608984	RNF170	81790	HP:0003487	Babinski sign
OMIM:608984	RNF170	81790	HP:0006962	Gait instability, worse in the dark
OMIM:608984	RNF170	81790	HP:0002403	Positive Romberg sign
OMIM:608984	RNF170	81790	HP:0001265	Hyporeflexia
OMIM:608984	RNF170	81790	HP:0010871	Sensory ataxia
OMIM:608984	RNF170	81790	HP:0000006	Autosomal dominant inheritance
OMIM:102370	FBN1	2200	HP:0009803	Short phalanx of finger
OMIM:102370	FBN1	2200	HP:0001072	Thickened skin
OMIM:102370	FBN1	2200	HP:0002002	Deep philtrum
OMIM:102370	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:102370	FBN1	2200	HP:0000160	Narrow mouth
OMIM:102370	FBN1	2200	HP:0000311	Round face
OMIM:102370	FBN1	2200	HP:0010579	Cone-shaped epiphysis
OMIM:102370	FBN1	2200	HP:0000463	Anteverted nares
OMIM:102370	FBN1	2200	HP:0000343	Long philtrum
OMIM:102370	FBN1	2200	HP:0010049	Short metacarpal
OMIM:102370	FBN1	2200	HP:0001609	Hoarse voice
OMIM:102370	FBN1	2200	HP:0002750	Delayed skeletal maturation
OMIM:102370	FBN1	2200	HP:0003300	Ovoid vertebral bodies
OMIM:102370	FBN1	2200	HP:0000179	Thick lower lip vermilion
OMIM:102370	FBN1	2200	HP:0003026	Short long bone
OMIM:102370	FBN1	2200	HP:0001773	Short foot
OMIM:102370	FBN1	2200	HP:0003510	Severe short stature
OMIM:102370	FBN1	2200	HP:0000414	Bulbous nose
OMIM:102370	FBN1	2200	HP:0005900	Fifth metacarpal with ulnar notch
OMIM:102370	FBN1	2200	HP:0004279	Short palm
OMIM:102370	FBN1	2200	HP:0000527	Long eyelashes
ORPHA:2300	TTC7A	57217	HP:0001561	Polyhydramnios
ORPHA:2300	TTC7A	57217	HP:0100867	Duodenal stenosis
ORPHA:2300	TTC7A	57217	HP:0002589	Gastrointestinal atresia
OMIM:608097	ARFGEF2	10564	HP:0000253	Progressive microcephaly
OMIM:608097	ARFGEF2	10564	HP:0001250	Seizures
OMIM:608097	ARFGEF2	10564	HP:0001290	Generalized hypotonia
OMIM:608097	ARFGEF2	10564	HP:0007165	Periventricular gray matter heterotopia
OMIM:608097	ARFGEF2	10564	HP:0002521	Hypsarrhythmia
OMIM:608097	ARFGEF2	10564	HP:0003593	Infantile onset
OMIM:608097	ARFGEF2	10564	HP:0000817	Poor eye contact
OMIM:608097	ARFGEF2	10564	HP:0010864	Intellectual disability, severe
OMIM:608097	ARFGEF2	10564	HP:0001249	Intellectual disability
OMIM:608097	ARFGEF2	10564	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608097	ARFGEF2	10564	HP:0002273	Tetraparesis
OMIM:608097	ARFGEF2	10564	HP:0000252	Microcephaly
OMIM:608097	ARFGEF2	10564	HP:0000007	Autosomal recessive inheritance
OMIM:608097	ARFGEF2	10564	HP:0001263	Global developmental delay
OMIM:614858	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614858	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:149700	IGSF3	3321	HP:0009926	Increased lacrimation
OMIM:149700	IGSF3	3321	HP:0000007	Autosomal recessive inheritance
OMIM:149700	IGSF3	3321	HP:0000006	Autosomal dominant inheritance
OMIM:149700	IGSF3	3321	HP:0030752	Dacryocystocele
OMIM:149700	IGSF3	3321	HP:0000564	Lacrimal duct atresia
OMIM:188030	FCGR2C	9103	HP:0001892	Abnormal bleeding
OMIM:188030	FCGR2C	9103	HP:0001873	Thrombocytopenia
OMIM:188030	FCGR2C	9103	HP:0000006	Autosomal dominant inheritance
OMIM:188030	FCGR2C	9103	HP:0003454	Platelet antibody positive
OMIM:158000	KRT83	3889	HP:0003593	Infantile onset
OMIM:158000	KRT83	3889	HP:0008404	Nail dystrophy
OMIM:158000	KRT83	3889	HP:0003828	Variable expressivity
OMIM:158000	KRT83	3889	HP:0002164	Nail dysplasia
OMIM:158000	KRT83	3889	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT83	3889	HP:0001596	Alopecia
OMIM:158000	KRT83	3889	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT83	3889	HP:0007468	Perifollicular hyperkeratosis
OMIM:158000	KRT83	3889	HP:0001425	Heterogeneous
OMIM:158000	KRT83	3889	HP:0001006	Hypotrichosis
OMIM:158000	KRT83	3889	HP:0002299	Brittle hair
OMIM:158000	KRT86	3892	HP:0003593	Infantile onset
OMIM:158000	KRT86	3892	HP:0008404	Nail dystrophy
OMIM:158000	KRT86	3892	HP:0003828	Variable expressivity
OMIM:158000	KRT86	3892	HP:0002164	Nail dysplasia
OMIM:158000	KRT86	3892	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT86	3892	HP:0001596	Alopecia
OMIM:158000	KRT86	3892	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT86	3892	HP:0007468	Perifollicular hyperkeratosis
OMIM:158000	KRT86	3892	HP:0001425	Heterogeneous
OMIM:158000	KRT86	3892	HP:0001006	Hypotrichosis
OMIM:158000	KRT86	3892	HP:0002299	Brittle hair
OMIM:158000	KRT81	3887	HP:0003593	Infantile onset
OMIM:158000	KRT81	3887	HP:0008404	Nail dystrophy
OMIM:158000	KRT81	3887	HP:0003828	Variable expressivity
OMIM:158000	KRT81	3887	HP:0002164	Nail dysplasia
OMIM:158000	KRT81	3887	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT81	3887	HP:0001596	Alopecia
OMIM:158000	KRT81	3887	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT81	3887	HP:0007468	Perifollicular hyperkeratosis
OMIM:158000	KRT81	3887	HP:0001425	Heterogeneous
OMIM:158000	KRT81	3887	HP:0001006	Hypotrichosis
OMIM:158000	KRT81	3887	HP:0002299	Brittle hair
OMIM:309530	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:309530	IQSEC2	23096	HP:0000486	Strabismus
OMIM:309530	IQSEC2	23096	HP:0000540	Hypermetropia
OMIM:309530	IQSEC2	23096	HP:0001290	Generalized hypotonia
OMIM:309530	IQSEC2	23096	HP:0002465	Poor speech
OMIM:309530	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:309530	IQSEC2	23096	HP:0001423	X-linked dominant inheritance
OMIM:309530	IQSEC2	23096	HP:0000248	Brachycephaly
OMIM:226730	ITGA6	3655	HP:0002041	Intractable diarrhea
OMIM:226730	ITGA6	3655	HP:0003341	Junctional split
OMIM:226730	ITGA6	3655	HP:0003577	Congenital onset
OMIM:226730	ITGA6	3655	HP:0000119	Abnormality of the genitourinary system
OMIM:226730	ITGA6	3655	HP:0001056	Milia
OMIM:226730	ITGA6	3655	HP:0002032	Esophageal atresia
OMIM:226730	ITGA6	3655	HP:0000007	Autosomal recessive inheritance
OMIM:226730	ITGA6	3655	HP:0001057	Aplasia cutis congenita
OMIM:226730	ITGA6	3655	HP:0001075	Atrophic scars
OMIM:226730	ITGA6	3655	HP:0002164	Nail dysplasia
OMIM:226730	ITGA6	3655	HP:0001561	Polyhydramnios
OMIM:226730	ITGA6	3655	HP:0001030	Fragile skin
OMIM:226730	ITGA6	3655	HP:0005984	Elevated maternal serum alpha-fetoprotein
OMIM:226730	ITGA6	3655	HP:0000656	Ectropion
OMIM:226730	ITGA6	3655	HP:0004399	Congenital pyloric atresia
OMIM:226730	ITGA6	3655	HP:0001522	Death in infancy
OMIM:226730	ITGA6	3655	HP:0002804	Arthrogryposis multiplex congenita
OMIM:226730	ITGA6	3655	HP:0008404	Nail dystrophy
OMIM:226730	ITGA6	3655	HP:0001060	Axillary pterygia
OMIM:226730	ITGA6	3655	HP:0001798	Anonychia
OMIM:226730	ITGA6	3655	HP:0006297	Hypoplasia of dental enamel
OMIM:226730	ITGB4	3691	HP:0002041	Intractable diarrhea
OMIM:226730	ITGB4	3691	HP:0003341	Junctional split
OMIM:226730	ITGB4	3691	HP:0003577	Congenital onset
OMIM:226730	ITGB4	3691	HP:0000119	Abnormality of the genitourinary system
OMIM:226730	ITGB4	3691	HP:0001056	Milia
OMIM:226730	ITGB4	3691	HP:0002032	Esophageal atresia
OMIM:226730	ITGB4	3691	HP:0000007	Autosomal recessive inheritance
OMIM:226730	ITGB4	3691	HP:0001057	Aplasia cutis congenita
OMIM:226730	ITGB4	3691	HP:0001075	Atrophic scars
OMIM:226730	ITGB4	3691	HP:0002164	Nail dysplasia
OMIM:226730	ITGB4	3691	HP:0001561	Polyhydramnios
OMIM:226730	ITGB4	3691	HP:0001030	Fragile skin
OMIM:226730	ITGB4	3691	HP:0005984	Elevated maternal serum alpha-fetoprotein
OMIM:226730	ITGB4	3691	HP:0000656	Ectropion
OMIM:226730	ITGB4	3691	HP:0004399	Congenital pyloric atresia
OMIM:226730	ITGB4	3691	HP:0001522	Death in infancy
OMIM:226730	ITGB4	3691	HP:0002804	Arthrogryposis multiplex congenita
OMIM:226730	ITGB4	3691	HP:0008404	Nail dystrophy
OMIM:226730	ITGB4	3691	HP:0001060	Axillary pterygia
OMIM:226730	ITGB4	3691	HP:0001798	Anonychia
OMIM:226730	ITGB4	3691	HP:0006297	Hypoplasia of dental enamel
OMIM:226730	PLEC	5339	HP:0002041	Intractable diarrhea
OMIM:226730	PLEC	5339	HP:0003341	Junctional split
OMIM:226730	PLEC	5339	HP:0003577	Congenital onset
OMIM:226730	PLEC	5339	HP:0000119	Abnormality of the genitourinary system
OMIM:226730	PLEC	5339	HP:0001056	Milia
OMIM:226730	PLEC	5339	HP:0002032	Esophageal atresia
OMIM:226730	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:226730	PLEC	5339	HP:0001057	Aplasia cutis congenita
OMIM:226730	PLEC	5339	HP:0001075	Atrophic scars
OMIM:226730	PLEC	5339	HP:0002164	Nail dysplasia
OMIM:226730	PLEC	5339	HP:0001561	Polyhydramnios
OMIM:226730	PLEC	5339	HP:0001030	Fragile skin
OMIM:226730	PLEC	5339	HP:0005984	Elevated maternal serum alpha-fetoprotein
OMIM:226730	PLEC	5339	HP:0000656	Ectropion
OMIM:226730	PLEC	5339	HP:0004399	Congenital pyloric atresia
OMIM:226730	PLEC	5339	HP:0001522	Death in infancy
OMIM:226730	PLEC	5339	HP:0002804	Arthrogryposis multiplex congenita
OMIM:226730	PLEC	5339	HP:0008404	Nail dystrophy
OMIM:226730	PLEC	5339	HP:0001060	Axillary pterygia
OMIM:226730	PLEC	5339	HP:0001798	Anonychia
OMIM:226730	PLEC	5339	HP:0006297	Hypoplasia of dental enamel
OMIM:613135	SLC6A3	6531	HP:0002072	Chorea
OMIM:613135	SLC6A3	6531	HP:0001300	Parkinsonism
OMIM:613135	SLC6A3	6531	HP:0001337	Tremor
OMIM:613135	SLC6A3	6531	HP:0002067	Bradykinesia
OMIM:613135	SLC6A3	6531	HP:0002194	Delayed gross motor development
OMIM:613135	SLC6A3	6531	HP:0003676	Progressive
OMIM:613135	SLC6A3	6531	HP:0002019	Constipation
OMIM:613135	SLC6A3	6531	HP:0002063	Rigidity
OMIM:613135	SLC6A3	6531	HP:0011968	Feeding difficulties
OMIM:613135	SLC6A3	6531	HP:0007256	Abnormal pyramidal signs
OMIM:613135	SLC6A3	6531	HP:0000007	Autosomal recessive inheritance
OMIM:613135	SLC6A3	6531	HP:0001263	Global developmental delay
OMIM:613135	SLC6A3	6531	HP:0003593	Infantile onset
OMIM:613135	SLC6A3	6531	HP:0008936	Muscular hypotonia of the trunk
OMIM:613135	SLC6A3	6531	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:613135	SLC6A3	6531	HP:0100660	Dyskinesia
OMIM:613135	SLC6A3	6531	HP:0001276	Hypertonia
OMIM:613135	SLC6A3	6531	HP:0002451	Limb dystonia
OMIM:613135	SLC6A3	6531	HP:0002020	Gastroesophageal reflux
ORPHA:394	CBS	875	HP:0000646	Amblyopia
ORPHA:394	CBS	875	HP:0000768	Pectus carinatum
ORPHA:394	CBS	875	HP:0002650	Scoliosis
ORPHA:394	CBS	875	HP:0002857	Genu valgum
ORPHA:394	CBS	875	HP:0002209	Sparse scalp hair
ORPHA:394	CBS	875	HP:0004936	Venous thrombosis
ORPHA:394	CBS	875	HP:0002757	Recurrent fractures
ORPHA:394	CBS	875	HP:0100026	Arteriovenous malformation
ORPHA:394	CBS	875	HP:0000822	Hypertension
ORPHA:394	CBS	875	HP:0000939	Osteoporosis
ORPHA:394	CBS	875	HP:0000678	Dental crowding
ORPHA:394	CBS	875	HP:0001166	Arachnodactyly
ORPHA:394	CBS	875	HP:0004420	Arterial thrombosis
ORPHA:394	CBS	875	HP:0001249	Intellectual disability
ORPHA:394	CBS	875	HP:0004337	Abnormality of amino acid metabolism
ORPHA:394	CBS	875	HP:0001387	Joint stiffness
ORPHA:394	CBS	875	HP:0002204	Pulmonary embolism
ORPHA:394	CBS	875	HP:0001519	Disproportionate tall stature
ORPHA:394	CBS	875	HP:0000767	Pectus excavatum
ORPHA:394	CBS	875	HP:0002808	Kyphosis
ORPHA:394	CBS	875	HP:0001083	Ectopia lentis
ORPHA:394	CBS	875	HP:0002637	Cerebral ischemia
ORPHA:394	CBS	875	HP:0000545	Myopia
ORPHA:99832	TRHR	7201	HP:0004491	Large posterior fontanelle
ORPHA:99832	TRHR	7201	HP:0011968	Feeding difficulties
ORPHA:99832	TRHR	7201	HP:0000821	Hypothyroidism
ORPHA:99832	TRHR	7201	HP:0001263	Global developmental delay
ORPHA:99832	TRHR	7201	HP:0001290	Generalized hypotonia
ORPHA:99832	TRHR	7201	HP:0001537	Umbilical hernia
ORPHA:99832	TRHR	7201	HP:0000280	Coarse facial features
ORPHA:99832	TRHR	7201	HP:0001510	Growth delay
ORPHA:99832	TRHR	7201	HP:0002019	Constipation
ORPHA:99832	TRHR	7201	HP:0002360	Sleep disturbance
ORPHA:99832	TRHR	7201	HP:0006579	Prolonged neonatal jaundice
ORPHA:99832	TRHR	7201	HP:0000158	Macroglossia
ORPHA:436144	CDKN1C	1028	HP:0004322	Short stature
ORPHA:436144	CDKN1C	1028	HP:0008734	Decreased testicular size
ORPHA:436144	CDKN1C	1028	HP:0001511	Intrauterine growth retardation
OMIM:616268	KAT6A	7994	HP:0000341	Narrow forehead
OMIM:616268	KAT6A	7994	HP:0000164	Abnormality of the dentition
OMIM:616268	KAT6A	7994	HP:0000369	Low-set ears
OMIM:616268	KAT6A	7994	HP:0000006	Autosomal dominant inheritance
OMIM:616268	KAT6A	7994	HP:0000358	Posteriorly rotated ears
OMIM:616268	KAT6A	7994	HP:0000286	Epicanthus
OMIM:616268	KAT6A	7994	HP:0002098	Respiratory distress
OMIM:616268	KAT6A	7994	HP:0000252	Microcephaly
OMIM:616268	KAT6A	7994	HP:0000508	Ptosis
OMIM:616268	KAT6A	7994	HP:0001252	Muscular hypotonia
OMIM:616268	KAT6A	7994	HP:0001263	Global developmental delay
OMIM:616268	KAT6A	7994	HP:0011968	Feeding difficulties
OMIM:616268	KAT6A	7994	HP:0000426	Prominent nasal bridge
OMIM:616268	KAT6A	7994	HP:0000455	Broad nasal tip
OMIM:616268	KAT6A	7994	HP:0001357	Plagiocephaly
OMIM:616268	KAT6A	7994	HP:0001629	Ventricular septal defect
OMIM:616268	KAT6A	7994	HP:0000219	Thin upper lip vermilion
OMIM:616268	KAT6A	7994	HP:0000308	Microretrognathia
OMIM:616268	KAT6A	7994	HP:0001249	Intellectual disability
OMIM:616268	KAT6A	7994	HP:0001643	Patent ductus arteriosus
OMIM:616268	KAT6A	7994	HP:0002643	Neonatal respiratory distress
OMIM:616268	KAT6A	7994	HP:0001363	Craniosynostosis
OMIM:616268	KAT6A	7994	HP:0002714	Downturned corners of mouth
OMIM:616268	KAT6A	7994	HP:0100704	Cortical visual impairment
OMIM:616268	KAT6A	7994	HP:0000486	Strabismus
OMIM:616268	KAT6A	7994	HP:0001631	Atrial septal defect
OMIM:616268	KAT6A	7994	HP:0001319	Neonatal hypotonia
OMIM:249400	NRAS	4893	HP:0001268	Mental deterioration
OMIM:249400	NRAS	4893	HP:0002861	Melanoma
OMIM:249400	NRAS	4893	HP:0001250	Seizures
OMIM:249400	NRAS	4893	HP:0005603	Numerous congenital melanocytic nevi
OMIM:249400	NRAS	4893	HP:0006824	Cranial nerve paralysis
OMIM:249400	NRAS	4893	HP:0003745	Sporadic
OMIM:249400	NRAS	4893	HP:0001522	Death in infancy
OMIM:616166	MFAP5	8076	HP:0000767	Pectus excavatum
OMIM:616166	MFAP5	8076	HP:0000768	Pectus carinatum
OMIM:616166	MFAP5	8076	HP:0012727	Dilatation of the thoracic aorta
OMIM:616166	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:601552	ASPH	444	HP:0000007	Autosomal recessive inheritance
OMIM:601552	ASPH	444	HP:0000278	Retrognathia
OMIM:601552	ASPH	444	HP:0000444	Convex nasal ridge
OMIM:601552	ASPH	444	HP:0000689	Dental malocclusion
OMIM:601552	ASPH	444	HP:0000448	Prominent nose
OMIM:601552	ASPH	444	HP:0001083	Ectopia lentis
OMIM:601552	ASPH	444	HP:0001089	Iris atrophy
OMIM:601552	ASPH	444	HP:0003683	Large beaked nose
OMIM:601552	ASPH	444	HP:0001999	Abnormal facial shape
OMIM:601552	ASPH	444	HP:0000494	Downslanted palpebral fissures
OMIM:300475	BCAP31	10134	HP:0001999	Abnormal facial shape
OMIM:300475	BCAP31	10134	HP:0002059	Cerebral atrophy
OMIM:300475	BCAP31	10134	HP:0000252	Microcephaly
OMIM:300475	BCAP31	10134	HP:0003429	CNS hypomyelination
OMIM:300475	BCAP31	10134	HP:0002445	Tetraplegia
OMIM:300475	BCAP31	10134	HP:0000407	Sensorineural hearing impairment
OMIM:300475	BCAP31	10134	HP:0000486	Strabismus
OMIM:300475	BCAP31	10134	HP:0001272	Cerebellar atrophy
OMIM:300475	BCAP31	10134	HP:0001508	Failure to thrive
OMIM:300475	BCAP31	10134	HP:0001263	Global developmental delay
OMIM:300475	BCAP31	10134	HP:0001249	Intellectual disability
OMIM:300475	BCAP31	10134	HP:0001332	Dystonia
OMIM:300475	BCAP31	10134	HP:0001419	X-linked recessive inheritance
OMIM:300475	BCAP31	10134	HP:0010864	Intellectual disability, severe
OMIM:300475	BCAP31	10134	HP:0006808	Cerebral hypomyelination
OMIM:300475	BCAP31	10134	HP:0007256	Abnormal pyramidal signs
OMIM:600721	D2HGDH	728294	HP:0002572	Episodic vomiting
OMIM:600721	D2HGDH	728294	HP:0007052	Multifocal cerebral white matter abnormalities
OMIM:600721	D2HGDH	728294	HP:0001638	Cardiomyopathy
OMIM:600721	D2HGDH	728294	HP:0001324	Muscle weakness
OMIM:600721	D2HGDH	728294	HP:0002007	Frontal bossing
OMIM:600721	D2HGDH	728294	HP:0000007	Autosomal recessive inheritance
OMIM:600721	D2HGDH	728294	HP:0002104	Apnea
OMIM:600721	D2HGDH	728294	HP:0005348	Inspiratory stridor
OMIM:600721	D2HGDH	728294	HP:0006956	Dilation of lateral ventricles
OMIM:600721	D2HGDH	728294	HP:0012321	D-2-hydroxyglutaric aciduria
OMIM:600721	D2HGDH	728294	HP:0002188	Delayed CNS myelination
OMIM:600721	D2HGDH	728294	HP:0002416	Subependymal cysts
OMIM:600721	D2HGDH	728294	HP:0000347	Micrognathia
OMIM:600721	D2HGDH	728294	HP:0001250	Seizures
OMIM:600721	D2HGDH	728294	HP:0007105	Infantile encephalopathy
OMIM:600721	D2HGDH	728294	HP:0001659	Aortic regurgitation
OMIM:600721	D2HGDH	728294	HP:0001290	Generalized hypotonia
OMIM:600721	D2HGDH	728294	HP:0003150	Glutaric aciduria
OMIM:600721	D2HGDH	728294	HP:0001249	Intellectual disability
OMIM:600721	D2HGDH	728294	HP:0011220	Prominent forehead
OMIM:600721	D2HGDH	728294	HP:0000256	Macrocephaly
OMIM:600721	D2HGDH	728294	HP:0001263	Global developmental delay
OMIM:615350	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:615350	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615350	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615350	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:615350	GMPPB	29925	HP:0011968	Feeding difficulties
OMIM:615350	GMPPB	29925	HP:0010864	Intellectual disability, severe
OMIM:615350	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:615350	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:615350	GMPPB	29925	HP:0001251	Ataxia
OMIM:615350	GMPPB	29925	HP:0000407	Sensorineural hearing impairment
OMIM:615350	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:615350	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:615350	GMPPB	29925	HP:0000175	Cleft palate
OMIM:615350	GMPPB	29925	HP:0001344	Absent speech
OMIM:615350	GMPPB	29925	HP:0001562	Oligohydramnios
OMIM:615350	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	GMPPB	29925	HP:0003577	Congenital onset
OMIM:615287	B4GAT1	11041	HP:0000054	Micropenis
OMIM:615287	B4GAT1	11041	HP:0000618	Blindness
OMIM:615287	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:615287	B4GAT1	11041	HP:0003577	Congenital onset
OMIM:615287	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:615287	B4GAT1	11041	HP:0001093	Optic nerve dysplasia
OMIM:615287	B4GAT1	11041	HP:0000126	Hydronephrosis
OMIM:615287	B4GAT1	11041	HP:0001250	Seizures
OMIM:615287	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:615287	B4GAT1	11041	HP:0002539	Cortical dysplasia
OMIM:615287	B4GAT1	11041	HP:0002085	Occipital encephalocele
OMIM:615287	B4GAT1	11041	HP:0001257	Spasticity
OMIM:615287	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:615287	B4GAT1	11041	HP:0007759	Opacification of the corneal stroma
OMIM:615287	B4GAT1	11041	HP:0002323	Anencephaly
OMIM:615287	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:615287	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:615287	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:615287	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:615287	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:615287	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
OMIM:615287	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
ORPHA:786	NR3C1	2908	HP:0004319	Decreased circulating aldosterone level
ORPHA:786	NR3C1	2908	HP:0200114	Metabolic alkalosis
ORPHA:786	NR3C1	2908	HP:0003118	Increased circulating cortisol level
ORPHA:786	NR3C1	2908	HP:0030087	Abnormal serum testosterone level
ORPHA:786	NR3C1	2908	HP:0000822	Hypertension
ORPHA:786	NR3C1	2908	HP:0000876	Oligomenorrhea
ORPHA:786	NR3C1	2908	HP:0001007	Hirsutism
ORPHA:786	NR3C1	2908	HP:0008221	Adrenal hyperplasia
ORPHA:786	NR3C1	2908	HP:0003154	Increased circulating ACTH level
ORPHA:786	NR3C1	2908	HP:0012378	Fatigue
ORPHA:786	NR3C1	2908	HP:0012030	Increased urinary cortisol level
ORPHA:786	NR3C1	2908	HP:0002900	Hypokalemia
ORPHA:786	NR3C1	2908	HP:0001061	Acne
OMIM:612304	PROC	5624	HP:0002638	Superficial thrombophlebitis
OMIM:612304	PROC	5624	HP:0003828	Variable expressivity
OMIM:612304	PROC	5624	HP:0001263	Global developmental delay
OMIM:612304	PROC	5624	HP:0002204	Pulmonary embolism
OMIM:612304	PROC	5624	HP:0002625	Deep venous thrombosis
OMIM:612304	PROC	5624	HP:0100724	Hypercoagulability
OMIM:612304	PROC	5624	HP:0000007	Autosomal recessive inheritance
OMIM:612304	PROC	5624	HP:0000979	Purpura
OMIM:612304	PROC	5624	HP:0001250	Seizures
OMIM:612304	PROC	5624	HP:0007902	Vitreous hemorrhage
OMIM:612304	PROC	5624	HP:0005543	Reduced protein C activity
OMIM:616351	COL4A3BP	10087	HP:0001263	Global developmental delay
OMIM:616351	COL4A3BP	10087	HP:0100704	Cortical visual impairment
OMIM:616351	COL4A3BP	10087	HP:0000463	Anteverted nares
OMIM:616351	COL4A3BP	10087	HP:0001773	Short foot
OMIM:616351	COL4A3BP	10087	HP:0000286	Epicanthus
OMIM:616351	COL4A3BP	10087	HP:0000687	Widely spaced teeth
OMIM:616351	COL4A3BP	10087	HP:0002307	Drooling
OMIM:616351	COL4A3BP	10087	HP:0002136	Broad-based gait
OMIM:616351	COL4A3BP	10087	HP:0002058	Myopathic facies
OMIM:616351	COL4A3BP	10087	HP:0002069	Generalized tonic-clonic seizures
OMIM:616351	COL4A3BP	10087	HP:0001562	Oligohydramnios
OMIM:616351	COL4A3BP	10087	HP:0002208	Coarse hair
OMIM:616351	COL4A3BP	10087	HP:0006610	Wide intermamillary distance
OMIM:616351	COL4A3BP	10087	HP:0000733	Stereotypy
OMIM:616351	COL4A3BP	10087	HP:0004691	2-3 toe syndactyly
OMIM:616351	COL4A3BP	10087	HP:0001488	Bilateral ptosis
OMIM:616351	COL4A3BP	10087	HP:0003763	Bruxism
OMIM:616351	COL4A3BP	10087	HP:0000006	Autosomal dominant inheritance
OMIM:616351	COL4A3BP	10087	HP:0000582	Upslanted palpebral fissure
OMIM:616351	COL4A3BP	10087	HP:0000664	Synophrys
OMIM:616351	COL4A3BP	10087	HP:0002212	Curly hair
OMIM:616351	COL4A3BP	10087	HP:0008936	Muscular hypotonia of the trunk
OMIM:616351	COL4A3BP	10087	HP:0000365	Hearing impairment
OMIM:616351	COL4A3BP	10087	HP:0005484	Postnatal microcephaly
OMIM:616351	COL4A3BP	10087	HP:0001249	Intellectual disability
OMIM:616351	COL4A3BP	10087	HP:0000319	Smooth philtrum
OMIM:119540	UBB	7314	HP:0000175	Cleft palate
OMIM:119540	UBB	7314	HP:0000347	Micrognathia
OMIM:119540	UBB	7314	HP:0002187	Intellectual disability, profound
OMIM:119540	UBB	7314	HP:0009102	Anterior open-bite malocclusion
OMIM:119540	UBB	7314	HP:0011094	Overbite
OMIM:119540	UBB	7314	HP:0000006	Autosomal dominant inheritance
OMIM:119540	UBB	7314	HP:0001250	Seizures
OMIM:119540	UBB	7314	HP:0000212	Gingival overgrowth
OMIM:304400	POU3F4	5456	HP:0001419	X-linked recessive inheritance
OMIM:304400	POU3F4	5456	HP:0004458	Dilatated internal auditory canal
OMIM:304400	POU3F4	5456	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304400	POU3F4	5456	HP:0000381	Stapes ankylosis
OMIM:304400	POU3F4	5456	HP:0000405	Conductive hearing impairment
OMIM:304400	GJB2	2706	HP:0001419	X-linked recessive inheritance
OMIM:304400	GJB2	2706	HP:0004458	Dilatated internal auditory canal
OMIM:304400	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304400	GJB2	2706	HP:0000381	Stapes ankylosis
OMIM:304400	GJB2	2706	HP:0000405	Conductive hearing impairment
OMIM:304400	GJB6	10804	HP:0001419	X-linked recessive inheritance
OMIM:304400	GJB6	10804	HP:0004458	Dilatated internal auditory canal
OMIM:304400	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304400	GJB6	10804	HP:0000381	Stapes ankylosis
OMIM:304400	GJB6	10804	HP:0000405	Conductive hearing impairment
ORPHA:1980	PDGFB	5155	HP:0002119	Ventriculomegaly
ORPHA:1980	PDGFB	5155	HP:0001933	Subcutaneous hemorrhage
ORPHA:1980	PDGFB	5155	HP:0002269	Abnormality of neuronal migration
ORPHA:1980	PDGFB	5155	HP:0000252	Microcephaly
ORPHA:1980	PDGFB	5155	HP:0002240	Hepatomegaly
ORPHA:1980	PDGFB	5155	HP:0001873	Thrombocytopenia
ORPHA:1980	PDGFB	5155	HP:0002514	Cerebral calcification
ORPHA:1980	PDGFB	5155	HP:0001511	Intrauterine growth retardation
ORPHA:1980	PDGFB	5155	HP:0007957	Corneal opacity
ORPHA:1980	PDGFB	5155	HP:0001250	Seizures
ORPHA:1980	PDGFRB	5159	HP:0002119	Ventriculomegaly
ORPHA:1980	PDGFRB	5159	HP:0001933	Subcutaneous hemorrhage
ORPHA:1980	PDGFRB	5159	HP:0002269	Abnormality of neuronal migration
ORPHA:1980	PDGFRB	5159	HP:0000252	Microcephaly
ORPHA:1980	PDGFRB	5159	HP:0002240	Hepatomegaly
ORPHA:1980	PDGFRB	5159	HP:0001873	Thrombocytopenia
ORPHA:1980	PDGFRB	5159	HP:0002514	Cerebral calcification
ORPHA:1980	PDGFRB	5159	HP:0001511	Intrauterine growth retardation
ORPHA:1980	PDGFRB	5159	HP:0007957	Corneal opacity
ORPHA:1980	PDGFRB	5159	HP:0001250	Seizures
ORPHA:1980	XPR1	9213	HP:0002119	Ventriculomegaly
ORPHA:1980	XPR1	9213	HP:0001933	Subcutaneous hemorrhage
ORPHA:1980	XPR1	9213	HP:0002269	Abnormality of neuronal migration
ORPHA:1980	XPR1	9213	HP:0000252	Microcephaly
ORPHA:1980	XPR1	9213	HP:0002240	Hepatomegaly
ORPHA:1980	XPR1	9213	HP:0001873	Thrombocytopenia
ORPHA:1980	XPR1	9213	HP:0002514	Cerebral calcification
ORPHA:1980	XPR1	9213	HP:0001511	Intrauterine growth retardation
ORPHA:1980	XPR1	9213	HP:0007957	Corneal opacity
ORPHA:1980	XPR1	9213	HP:0001250	Seizures
ORPHA:1980	SLC20A2	6575	HP:0002119	Ventriculomegaly
ORPHA:1980	SLC20A2	6575	HP:0001933	Subcutaneous hemorrhage
ORPHA:1980	SLC20A2	6575	HP:0002269	Abnormality of neuronal migration
ORPHA:1980	SLC20A2	6575	HP:0000252	Microcephaly
ORPHA:1980	SLC20A2	6575	HP:0002240	Hepatomegaly
ORPHA:1980	SLC20A2	6575	HP:0001873	Thrombocytopenia
ORPHA:1980	SLC20A2	6575	HP:0002514	Cerebral calcification
ORPHA:1980	SLC20A2	6575	HP:0001511	Intrauterine growth retardation
ORPHA:1980	SLC20A2	6575	HP:0007957	Corneal opacity
ORPHA:1980	SLC20A2	6575	HP:0001250	Seizures
OMIM:125851	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:125851	GCK	2645	HP:0004904	Maturity-onset diabetes of the young
OMIM:612119	TREH	11181	HP:0000007	Autosomal recessive inheritance
OMIM:612119	TREH	11181	HP:0002014	Diarrhea
ORPHA:98976	TEK	7010	HP:0001052	Nevus flammeus
ORPHA:98976	TEK	7010	HP:0000541	Retinal detachment
ORPHA:98976	TEK	7010	HP:0000501	Glaucoma
ORPHA:98976	LTBP2	4053	HP:0001052	Nevus flammeus
ORPHA:98976	LTBP2	4053	HP:0000541	Retinal detachment
ORPHA:98976	LTBP2	4053	HP:0000501	Glaucoma
ORPHA:98976	CYP1B1	1545	HP:0001052	Nevus flammeus
ORPHA:98976	CYP1B1	1545	HP:0000541	Retinal detachment
ORPHA:98976	CYP1B1	1545	HP:0000501	Glaucoma
ORPHA:98976	MYOC	4653	HP:0001052	Nevus flammeus
ORPHA:98976	MYOC	4653	HP:0000541	Retinal detachment
ORPHA:98976	MYOC	4653	HP:0000501	Glaucoma
OMIM:614893	IRF8	3394	HP:0000006	Autosomal dominant inheritance
OMIM:614893	IRF8	3394	HP:0002721	Immunodeficiency
OMIM:614893	IRF8	3394	HP:0002716	Lymphadenopathy
OMIM:614893	IRF8	3394	HP:0002719	Recurrent infections
OMIM:603956	FGFR3	2261	HP:0003319	Abnormality of the cervical spine
OMIM:603956	FGFR3	2261	HP:0002664	Neoplasm
OMIM:182601	SPAST	6683	HP:0001347	Hyperreflexia
OMIM:182601	SPAST	6683	HP:0000012	Urinary urgency
OMIM:182601	SPAST	6683	HP:0001249	Intellectual disability
OMIM:182601	SPAST	6683	HP:0002064	Spastic gait
OMIM:182601	SPAST	6683	HP:0000726	Dementia
OMIM:182601	SPAST	6683	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:182601	SPAST	6683	HP:0000718	Aggressive behavior
OMIM:182601	SPAST	6683	HP:0000713	Agitation
OMIM:182601	SPAST	6683	HP:0003587	Insidious onset
OMIM:182601	SPAST	6683	HP:0003743	Genetic anticipation
OMIM:182601	SPAST	6683	HP:0002354	Memory impairment
OMIM:182601	SPAST	6683	HP:0000006	Autosomal dominant inheritance
OMIM:182601	SPAST	6683	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:182601	SPAST	6683	HP:0003676	Progressive
OMIM:182601	SPAST	6683	HP:0000020	Urinary incontinence
OMIM:182601	SPAST	6683	HP:0003828	Variable expressivity
OMIM:182601	SPAST	6683	HP:0000734	Disinhibition
OMIM:182601	SPAST	6683	HP:0000741	Apathy
OMIM:182601	SPAST	6683	HP:0003419	Low back pain
OMIM:182601	SPAST	6683	HP:0007340	Lower limb muscle weakness
OMIM:182601	SPAST	6683	HP:0010550	Paraplegia
OMIM:182601	SPAST	6683	HP:0000639	Nystagmus
OMIM:182601	SPAST	6683	HP:0001258	Spastic paraplegia
OMIM:182601	SPAST	6683	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:182601	SPAST	6683	HP:0003487	Babinski sign
OMIM:182601	SPAST	6683	HP:0000716	Depressivity
OMIM:246450	HMGCL	3155	HP:0001259	Coma
OMIM:246450	HMGCL	3155	HP:0001943	Hypoglycemia
OMIM:246450	HMGCL	3155	HP:0000007	Autosomal recessive inheritance
OMIM:246450	HMGCL	3155	HP:0001945	Fever
OMIM:246450	HMGCL	3155	HP:0001987	Hyperammonemia
OMIM:246450	HMGCL	3155	HP:0003234	Decreased plasma carnitine
OMIM:246450	HMGCL	3155	HP:0002240	Hepatomegaly
OMIM:246450	HMGCL	3155	HP:0003344	3-Methylglutaric aciduria
OMIM:246450	HMGCL	3155	HP:0001942	Metabolic acidosis
OMIM:246450	HMGCL	3155	HP:0003819	Death in childhood
OMIM:246450	HMGCL	3155	HP:0001262	Excessive daytime somnolence
OMIM:246450	HMGCL	3155	HP:0003150	Glutaric aciduria
OMIM:614082	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:614082	FANCG	2189	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCG	2189	HP:0002863	Myelodysplasia
OMIM:614082	FANCG	2189	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCG	2189	HP:0001909	Leukemia
OMIM:614082	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCG	2189	HP:0001903	Anemia
OMIM:614082	FANCG	2189	HP:0001875	Neutropenia
OMIM:131705	COL7A1	1294	HP:0001056	Milia
OMIM:131705	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:131705	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:131705	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:131705	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:131705	COL7A1	1294	HP:0008066	Abnormal blistering of the skin
OMIM:131705	COL7A1	1294	HP:0001030	Fragile skin
OMIM:131705	COL7A1	1294	HP:0003577	Congenital onset
OMIM:131705	COL7A1	1294	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:202370	PEX5	5830	HP:0001249	Intellectual disability
OMIM:202370	PEX5	5830	HP:0002007	Frontal bossing
OMIM:202370	PEX5	5830	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX5	5830	HP:0000369	Low-set ears
OMIM:202370	PEX5	5830	HP:0010696	Polar cataract
OMIM:202370	PEX5	5830	HP:0002705	High, narrow palate
OMIM:202370	PEX5	5830	HP:0000463	Anteverted nares
OMIM:202370	PEX5	5830	HP:0000565	Esotropia
OMIM:202370	PEX5	5830	HP:0000286	Epicanthus
OMIM:202370	PEX5	5830	HP:0000268	Dolichocephaly
OMIM:202370	PEX5	5830	HP:0003455	Elevated long chain fatty acids
OMIM:202370	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX5	5830	HP:0000431	Wide nasal bridge
OMIM:202370	PEX5	5830	HP:0001999	Abnormal facial shape
OMIM:202370	PEX5	5830	HP:0001250	Seizures
OMIM:616875	EMC1	23065	HP:0000545	Myopia
OMIM:616875	EMC1	23065	HP:0000565	Esotropia
OMIM:616875	EMC1	23065	HP:0001290	Generalized hypotonia
OMIM:616875	EMC1	23065	HP:0000007	Autosomal recessive inheritance
OMIM:616875	EMC1	23065	HP:0001249	Intellectual disability
OMIM:616875	EMC1	23065	HP:0000648	Optic atrophy
OMIM:616875	EMC1	23065	HP:0008755	Laryngotracheomalacia
OMIM:616875	EMC1	23065	HP:0002023	Anal atresia
OMIM:616875	EMC1	23065	HP:0100704	Cortical visual impairment
OMIM:616875	EMC1	23065	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616875	EMC1	23065	HP:0003676	Progressive
OMIM:616875	EMC1	23065	HP:0000483	Astigmatism
OMIM:616875	EMC1	23065	HP:0000540	Hypermetropia
OMIM:617182	GNB5	10681	HP:0000007	Autosomal recessive inheritance
OMIM:617182	GNB5	10681	HP:0007018	Attention deficit hyperactivity disorder
OMIM:617182	GNB5	10681	HP:0000750	Delayed speech and language development
OMIM:614286	TET2	54790	HP:0002863	Myelodysplasia
OMIM:614286	TET2	54790	HP:0001428	Somatic mutation
OMIM:614286	SF3B1	23451	HP:0002863	Myelodysplasia
OMIM:614286	SF3B1	23451	HP:0001428	Somatic mutation
OMIM:614286	ASXL1	171023	HP:0002863	Myelodysplasia
OMIM:614286	ASXL1	171023	HP:0001428	Somatic mutation
ORPHA:2897	CARD14	79092	HP:0200034	Papule
ORPHA:2897	CARD14	79092	HP:0000989	Pruritus
ORPHA:2897	CARD14	79092	HP:0007400	Irregular hyperpigmentation
ORPHA:2897	CARD14	79092	HP:0001019	Erythroderma
ORPHA:2897	CARD14	79092	HP:0000982	Palmoplantar keratoderma
ORPHA:2897	CARD14	79092	HP:0008392	Subungual hyperkeratosis
OMIM:614558	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:614558	SCN8A	6334	HP:0011097	Epileptic spasms
OMIM:614558	SCN8A	6334	HP:0000717	Autism
OMIM:614558	SCN8A	6334	HP:0000253	Progressive microcephaly
OMIM:614558	SCN8A	6334	HP:0001290	Generalized hypotonia
OMIM:614558	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:614558	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:614558	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SCN8A	6334	HP:0000252	Microcephaly
OMIM:614558	SCN8A	6334	HP:0002376	Developmental regression
OMIM:615500	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615500	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615500	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615500	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615500	C21ORF59	56683	HP:0012207	Reduced sperm motility
OMIM:615500	C21ORF59	56683	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615500	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:615500	C21ORF59	56683	HP:0012265	Ciliary dyskinesia
OMIM:615500	C21ORF59	56683	HP:0000789	Infertility
OMIM:615500	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615500	C21ORF59	56683	HP:0004469	Chronic bronchitis
OMIM:615500	C21ORF59	56683	HP:0012384	Rhinitis
OMIM:616331	DVL1	1855	HP:0000520	Proptosis
OMIM:616331	DVL1	1855	HP:0000256	Macrocephaly
OMIM:616331	DVL1	1855	HP:0030084	Clinodactyly
OMIM:616331	DVL1	1855	HP:0000219	Thin upper lip vermilion
OMIM:616331	DVL1	1855	HP:0000348	High forehead
OMIM:616331	DVL1	1855	HP:0009882	Short distal phalanx of finger
OMIM:616331	DVL1	1855	HP:0011304	Broad thumb
OMIM:616331	DVL1	1855	HP:0000028	Cryptorchidism
OMIM:616331	DVL1	1855	HP:0000343	Long philtrum
OMIM:616331	DVL1	1855	HP:0000689	Dental malocclusion
OMIM:616331	DVL1	1855	HP:0000006	Autosomal dominant inheritance
OMIM:616331	DVL1	1855	HP:0000463	Anteverted nares
OMIM:616331	DVL1	1855	HP:0001156	Brachydactyly
OMIM:616331	DVL1	1855	HP:0002007	Frontal bossing
OMIM:616331	DVL1	1855	HP:0000678	Dental crowding
OMIM:616331	DVL1	1855	HP:0000207	Triangular mouth
OMIM:616331	DVL1	1855	HP:0011800	Midface retrusion
OMIM:616331	DVL1	1855	HP:0000054	Micropenis
OMIM:616331	DVL1	1855	HP:0000316	Hypertelorism
OMIM:616331	DVL1	1855	HP:0003196	Short nose
OMIM:616331	DVL1	1855	HP:0000212	Gingival overgrowth
OMIM:616331	DVL1	1855	HP:0003577	Congenital onset
ORPHA:94068	COL2A1	1280	HP:0000337	Broad forehead
ORPHA:94068	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHA:94068	COL2A1	1280	HP:0000316	Hypertelorism
ORPHA:94068	COL2A1	1280	HP:0012368	Flat face
ORPHA:94068	COL2A1	1280	HP:0004322	Short stature
ORPHA:94068	COL2A1	1280	HP:0000774	Narrow chest
ORPHA:94068	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHA:94068	COL2A1	1280	HP:0002812	Coxa vara
ORPHA:94068	COL2A1	1280	HP:0000470	Short neck
ORPHA:94068	COL2A1	1280	HP:0010306	Short thorax
ORPHA:94068	COL2A1	1280	HP:0000175	Cleft palate
ORPHA:94068	COL2A1	1280	HP:0001762	Talipes equinovarus
ORPHA:94068	COL2A1	1280	HP:0001376	Limitation of joint mobility
ORPHA:94068	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:94068	COL2A1	1280	HP:0003307	Hyperlordosis
ORPHA:94068	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
ORPHA:94068	COL2A1	1280	HP:0002983	Micromelia
OMIM:172870	CRB1	23418	HP:0000565	Esotropia
OMIM:172870	CRB1	23418	HP:0000655	Vitreoretinal degeneration
OMIM:172870	CRB1	23418	HP:0007903	Paravenous chorioretinal atrophy
OMIM:172870	CRB1	23418	HP:0000540	Hypermetropia
OMIM:172870	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
ORPHA:79476	MYO5A	4644	HP:0100022	Abnormality of movement
ORPHA:79476	MYO5A	4644	HP:0002216	Premature graying of hair
ORPHA:79476	MYO5A	4644	HP:0001250	Seizures
ORPHA:79476	MYO5A	4644	HP:0007730	Iris hypopigmentation
ORPHA:79476	MYO5A	4644	HP:0001249	Intellectual disability
ORPHA:79476	MYO5A	4644	HP:0001276	Hypertonia
ORPHA:79476	MYO5A	4644	HP:0000651	Diplopia
ORPHA:79476	MYO5A	4644	HP:0000488	Retinopathy
ORPHA:79476	MYO5A	4644	HP:0001290	Generalized hypotonia
ORPHA:79476	MYO5A	4644	HP:0001251	Ataxia
ORPHA:79476	MYO5A	4644	HP:0001263	Global developmental delay
ORPHA:79476	MYO5A	4644	HP:0003077	Hyperlipidemia
ORPHA:79476	MYO5A	4644	HP:0000639	Nystagmus
ORPHA:79476	MYO5A	4644	HP:0011364	White hair
ORPHA:79476	MYO5A	4644	HP:0007443	Partial albinism
OMIM:158320	MLH1	4292	HP:0003003	Colon cancer
OMIM:158320	MLH1	4292	HP:0002671	Basal cell carcinoma
OMIM:158320	MLH1	4292	HP:0009720	Adenoma sebaceum
OMIM:158320	MLH1	4292	HP:0030410	Sebaceous gland carcinoma
OMIM:158320	MLH1	4292	HP:0002253	Colonic diverticula
OMIM:158320	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:158320	MLH1	4292	HP:0012118	Laryngeal carcinoma
OMIM:158320	MLH1	4292	HP:0006771	Duodenal adenocarcinoma
OMIM:158320	MLH1	4292	HP:0006719	Benign gastrointestinal tract tumors
OMIM:158320	MLH1	4292	HP:0003002	Breast carcinoma
OMIM:158320	MLH1	4292	HP:0006758	Malignant genitourinary tract tumor
OMIM:158320	MLH1	4292	HP:0006778	Benign genitourinary tract neoplasm
OMIM:158320	MSH2	4436	HP:0003003	Colon cancer
OMIM:158320	MSH2	4436	HP:0002671	Basal cell carcinoma
OMIM:158320	MSH2	4436	HP:0009720	Adenoma sebaceum
OMIM:158320	MSH2	4436	HP:0030410	Sebaceous gland carcinoma
OMIM:158320	MSH2	4436	HP:0002253	Colonic diverticula
OMIM:158320	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:158320	MSH2	4436	HP:0012118	Laryngeal carcinoma
OMIM:158320	MSH2	4436	HP:0006771	Duodenal adenocarcinoma
OMIM:158320	MSH2	4436	HP:0006719	Benign gastrointestinal tract tumors
OMIM:158320	MSH2	4436	HP:0003002	Breast carcinoma
OMIM:158320	MSH2	4436	HP:0006758	Malignant genitourinary tract tumor
OMIM:158320	MSH2	4436	HP:0006778	Benign genitourinary tract neoplasm
OMIM:158300	MYH8	4626	HP:0002804	Arthrogryposis multiplex congenita
OMIM:158300	MYH8	4626	HP:0000211	Trismus
OMIM:158300	MYH8	4626	HP:0002015	Dysphagia
OMIM:158300	MYH8	4626	HP:0011968	Feeding difficulties
OMIM:158300	MYH8	4626	HP:0001762	Talipes equinovarus
OMIM:158300	MYH8	4626	HP:0000324	Facial asymmetry
OMIM:158300	MYH8	4626	HP:0000508	Ptosis
OMIM:158300	MYH8	4626	HP:0004322	Short stature
OMIM:158300	MYH8	4626	HP:0000347	Micrognathia
OMIM:158300	MYH8	4626	HP:0005684	Distal arthrogryposis
OMIM:158300	MYH8	4626	HP:0000006	Autosomal dominant inheritance
OMIM:158300	MYH8	4626	HP:0001840	Metatarsus adductus
OMIM:158300	MYH8	4626	HP:0002827	Hip dislocation
OMIM:158300	MYH8	4626	HP:0010621	Cutaneous syndactyly of toes
OMIM:158300	MYH8	4626	HP:0001765	Hammertoe
OMIM:617236	CEP78	84131	HP:0000608	Macular degeneration
OMIM:617236	CEP78	84131	HP:0000407	Sensorineural hearing impairment
OMIM:617236	CEP78	84131	HP:0000613	Photophobia
OMIM:617236	CEP78	84131	HP:0000639	Nystagmus
OMIM:617236	CEP78	84131	HP:0000007	Autosomal recessive inheritance
OMIM:275200	TSHR	7253	HP:0003593	Infantile onset
OMIM:275200	TSHR	7253	HP:0000007	Autosomal recessive inheritance
OMIM:275200	TSHR	7253	HP:0000851	Congenital hypothyroidism
OMIM:275200	TSHR	7253	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:275200	TSHR	7253	HP:0005990	Thyroid hypoplasia
OMIM:610246	AFG3L2	10939	HP:0000508	Ptosis
OMIM:610246	AFG3L2	10939	HP:0000640	Gaze-evoked nystagmus
OMIM:610246	AFG3L2	10939	HP:0002070	Limb ataxia
OMIM:610246	AFG3L2	10939	HP:0000597	Ophthalmoparesis
OMIM:610246	AFG3L2	10939	HP:0000641	Dysmetric saccades
OMIM:610246	AFG3L2	10939	HP:0000514	Slow saccadic eye movements
OMIM:610246	AFG3L2	10939	HP:0001257	Spasticity
OMIM:610246	AFG3L2	10939	HP:0002066	Gait ataxia
OMIM:610246	AFG3L2	10939	HP:0002395	Lower limb hyperreflexia
OMIM:610246	AFG3L2	10939	HP:0001260	Dysarthria
OMIM:610246	AFG3L2	10939	HP:0003677	Slow progression
OMIM:610246	AFG3L2	10939	HP:0001272	Cerebellar atrophy
OMIM:610246	AFG3L2	10939	HP:0003487	Babinski sign
OMIM:610246	AFG3L2	10939	HP:0000006	Autosomal dominant inheritance
OMIM:606763	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAAF3	352909	HP:0002098	Respiratory distress
OMIM:606763	DNAAF3	352909	HP:0000388	Otitis media
OMIM:606763	DNAAF3	352909	HP:0012265	Ciliary dyskinesia
OMIM:606763	DNAAF3	352909	HP:0000789	Infertility
OMIM:606763	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:606763	DNAAF3	352909	HP:0003577	Congenital onset
OMIM:606763	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:606763	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:606763	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:606763	DNAAF3	352909	HP:0012259	Absent inner and outer dynein arms
OMIM:606763	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAAF3	352909	HP:0100582	Nasal polyposis
OMIM:607655	DSP	1832	HP:0001030	Fragile skin
OMIM:607655	DSP	1832	HP:0002224	Woolly hair
OMIM:607655	DSP	1832	HP:0000007	Autosomal recessive inheritance
OMIM:607655	DSP	1832	HP:0008404	Nail dystrophy
OMIM:607655	DSP	1832	HP:0002164	Nail dysplasia
OMIM:607655	DSP	1832	HP:0001596	Alopecia
OMIM:607655	DSP	1832	HP:0000535	Sparse and thin eyebrow
OMIM:607655	DSP	1832	HP:0007548	Palmoplantar keratosis with erythema and scale
OMIM:607655	DSP	1832	HP:0001508	Failure to thrive
OMIM:607655	DSP	1832	HP:0000653	Sparse eyelashes
OMIM:607655	DSP	1832	HP:0001626	Abnormality of the cardiovascular system
ORPHA:87503	SLURP1	57152	HP:0008064	Ichthyosis
ORPHA:87503	SLURP1	57152	HP:0007435	Diffuse palmoplantar keratoderma
ORPHA:87503	SLURP1	57152	HP:0001598	Concave nail
ORPHA:87503	SLURP1	57152	HP:0007390	Hyperkeratosis with erythema
ORPHA:87503	SLURP1	57152	HP:0000975	Hyperhidrosis
ORPHA:87503	SLURP1	57152	HP:0008392	Subungual hyperkeratosis
ORPHA:87503	SLURP1	57152	HP:0001805	Thick nail
ORPHA:302	TMC8	147138	HP:0200043	Verrucae
ORPHA:302	TMC8	147138	HP:0200034	Papule
ORPHA:302	TMC8	147138	HP:0001053	Hypopigmented skin patches
ORPHA:302	TMC8	147138	HP:0200039	Pustule
ORPHA:302	TMC8	147138	HP:0200035	Skin plaque
ORPHA:302	TMC8	147138	HP:0001051	Seborrheic dermatitis
ORPHA:302	TMC8	147138	HP:0007565	Multiple cafe-au-lait spots
ORPHA:302	TMC8	147138	HP:0001581	Recurrent skin infections
ORPHA:302	TMC6	11322	HP:0200043	Verrucae
ORPHA:302	TMC6	11322	HP:0200034	Papule
ORPHA:302	TMC6	11322	HP:0001053	Hypopigmented skin patches
ORPHA:302	TMC6	11322	HP:0200039	Pustule
ORPHA:302	TMC6	11322	HP:0200035	Skin plaque
ORPHA:302	TMC6	11322	HP:0001051	Seborrheic dermatitis
ORPHA:302	TMC6	11322	HP:0007565	Multiple cafe-au-lait spots
ORPHA:302	TMC6	11322	HP:0001581	Recurrent skin infections
OMIM:615948	C2CD3	26005	HP:0000175	Cleft palate
OMIM:615948	C2CD3	26005	HP:0000180	Lobulated tongue
OMIM:615948	C2CD3	26005	HP:0003577	Congenital onset
OMIM:615948	C2CD3	26005	HP:0000582	Upslanted palpebral fissure
OMIM:615948	C2CD3	26005	HP:0011802	Hamartoma of tongue
OMIM:615948	C2CD3	26005	HP:0000506	Telecanthus
OMIM:615948	C2CD3	26005	HP:0008753	Aplasia of the epiglottis
OMIM:615948	C2CD3	26005	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615948	C2CD3	26005	HP:0010297	Bifid tongue
OMIM:615948	C2CD3	26005	HP:0000252	Microcephaly
OMIM:615948	C2CD3	26005	HP:0100259	Postaxial polydactyly
OMIM:615948	C2CD3	26005	HP:0000054	Micropenis
OMIM:615948	C2CD3	26005	HP:0000243	Trigonocephaly
OMIM:615948	C2CD3	26005	HP:0001344	Absent speech
OMIM:615948	C2CD3	26005	HP:0001999	Abnormal facial shape
OMIM:615948	C2CD3	26005	HP:0010864	Intellectual disability, severe
OMIM:615948	C2CD3	26005	HP:0000007	Autosomal recessive inheritance
OMIM:615948	C2CD3	26005	HP:0011069	Increased number of teeth
OMIM:615948	C2CD3	26005	HP:0001249	Intellectual disability
OMIM:615948	C2CD3	26005	HP:0002419	Molar tooth sign on MRI
OMIM:277700	WRN	7486	HP:0000939	Osteoporosis
OMIM:277700	WRN	7486	HP:0005177	Premature arteriosclerosis
OMIM:277700	WRN	7486	HP:0005328	Progeroid facial appearance
OMIM:277700	WRN	7486	HP:0007618	Subcutaneous calcification
OMIM:277700	WRN	7486	HP:0000518	Cataract
OMIM:277700	WRN	7486	HP:0001595	Abnormality of the hair
OMIM:277700	WRN	7486	HP:0004322	Short stature
OMIM:277700	WRN	7486	HP:0000135	Hypogonadism
OMIM:277700	WRN	7486	HP:0000007	Autosomal recessive inheritance
OMIM:277700	WRN	7486	HP:0000444	Convex nasal ridge
OMIM:277700	WRN	7486	HP:0000546	Retinal degeneration
OMIM:277700	WRN	7486	HP:0000819	Diabetes mellitus
OMIM:277700	WRN	7486	HP:0002669	Osteosarcoma
OMIM:277700	WRN	7486	HP:0002858	Meningioma
OMIM:616814	TLE6	79816	HP:0000007	Autosomal recessive inheritance
OMIM:613640	SPTLC2	9517	HP:0200042	Skin ulcer
OMIM:613640	SPTLC2	9517	HP:0001760	Abnormality of the foot
OMIM:613640	SPTLC2	9517	HP:0001218	Autoamputation
OMIM:613640	SPTLC2	9517	HP:0012534	Dysesthesia
OMIM:613640	SPTLC2	9517	HP:0000006	Autosomal dominant inheritance
OMIM:613640	SPTLC2	9517	HP:0006984	Distal sensory loss of all modalities
OMIM:613640	SPTLC2	9517	HP:0000970	Anhidrosis
OMIM:613640	SPTLC2	9517	HP:0002936	Distal sensory impairment
OMIM:613640	SPTLC2	9517	HP:0002460	Distal muscle weakness
OMIM:613640	SPTLC2	9517	HP:0007141	Sensorimotor neuropathy
OMIM:613640	SPTLC2	9517	HP:0002754	Osteomyelitis
OMIM:615922	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:615922	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:615922	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:615922	PRPF4	9128	HP:0000546	Retinal degeneration
ORPHA:231214	HBB	3043	HP:0000716	Depressivity
ORPHA:231214	HBB	3043	HP:0003281	Increased serum ferritin
ORPHA:231214	HBB	3043	HP:0011902	Abnormal hemoglobin
ORPHA:231214	HBB	3043	HP:0002094	Dyspnea
ORPHA:231214	HBB	3043	HP:0011968	Feeding difficulties
ORPHA:231214	HBB	3043	HP:0000980	Pallor
ORPHA:231214	HBB	3043	HP:0001971	Hypersplenism
ORPHA:231214	HBB	3043	HP:0002240	Hepatomegaly
ORPHA:231214	HBB	3043	HP:0005280	Depressed nasal bridge
ORPHA:231214	HBB	3043	HP:0000823	Delayed puberty
ORPHA:231214	HBB	3043	HP:0002024	Malabsorption
ORPHA:231214	HBB	3043	HP:0010620	Malar prominence
ORPHA:231214	HBB	3043	HP:0001945	Fever
ORPHA:231214	HBB	3043	HP:0003401	Paresthesia
ORPHA:231214	HBB	3043	HP:0002857	Genu valgum
ORPHA:231214	HBB	3043	HP:0000582	Upslanted palpebral fissure
ORPHA:231214	HBB	3043	HP:0001081	Cholelithiasis
ORPHA:231214	HBB	3043	HP:0000739	Anxiety
ORPHA:231214	HBB	3043	HP:0000952	Jaundice
ORPHA:231214	HBB	3043	HP:0001935	Microcytic anemia
ORPHA:231214	HBB	3043	HP:0000164	Abnormality of the dentition
ORPHA:231214	HBB	3043	HP:0001324	Muscle weakness
ORPHA:231214	HBB	3043	HP:0000939	Osteoporosis
OMIM:242840	EPG5	57724	HP:0001941	Acidosis
OMIM:242840	EPG5	57724	HP:0001712	Left ventricular hypertrophy
OMIM:242840	EPG5	57724	HP:0001250	Seizures
OMIM:242840	EPG5	57724	HP:0010636	Schizencephaly
OMIM:242840	EPG5	57724	HP:0003198	Myopathy
OMIM:242840	EPG5	57724	HP:0002718	Recurrent bacterial infections
OMIM:242840	EPG5	57724	HP:0000519	Congenital cataract
OMIM:242840	EPG5	57724	HP:0001263	Global developmental delay
OMIM:242840	EPG5	57724	HP:0001510	Growth delay
OMIM:242840	EPG5	57724	HP:0000347	Micrognathia
OMIM:242840	EPG5	57724	HP:0000639	Nystagmus
OMIM:242840	EPG5	57724	HP:0000204	Cleft upper lip
OMIM:242840	EPG5	57724	HP:0003577	Congenital onset
OMIM:242840	EPG5	57724	HP:0007314	White matter neuronal heterotopia
OMIM:242840	EPG5	57724	HP:0002205	Recurrent respiratory infections
OMIM:242840	EPG5	57724	HP:0001270	Motor delay
OMIM:242840	EPG5	57724	HP:0002533	Abnormal posturing
OMIM:242840	EPG5	57724	HP:0001107	Ocular albinism
OMIM:242840	EPG5	57724	HP:0001022	Albinism
OMIM:242840	EPG5	57724	HP:0001635	Congestive heart failure
OMIM:242840	EPG5	57724	HP:0000369	Low-set ears
OMIM:242840	EPG5	57724	HP:0002965	Cutaneous anergy
OMIM:242840	EPG5	57724	HP:0005407	Decreased number of CD4+ T cells
OMIM:242840	EPG5	57724	HP:0001274	Agenesis of corpus callosum
OMIM:242840	EPG5	57724	HP:0003244	Penile hypospadias
OMIM:242840	EPG5	57724	HP:0004315	IgG deficiency
OMIM:242840	EPG5	57724	HP:0007894	Hypopigmentation of the fundus
OMIM:242840	EPG5	57724	HP:0001644	Dilated cardiomyopathy
OMIM:242840	EPG5	57724	HP:0000175	Cleft palate
OMIM:242840	EPG5	57724	HP:0001508	Failure to thrive
OMIM:242840	EPG5	57724	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:242840	EPG5	57724	HP:0001290	Generalized hypotonia
OMIM:242840	EPG5	57724	HP:0005419	Decreased T cell activation
OMIM:242840	EPG5	57724	HP:0000777	Abnormality of the thymus
OMIM:242840	EPG5	57724	HP:0004429	Recurrent viral infections
OMIM:242840	EPG5	57724	HP:0001320	Cerebellar vermis hypoplasia
OMIM:242840	EPG5	57724	HP:0000252	Microcephaly
OMIM:242840	EPG5	57724	HP:0000316	Hypertelorism
OMIM:242840	EPG5	57724	HP:0000007	Autosomal recessive inheritance
OMIM:242840	EPG5	57724	HP:0002841	Recurrent fungal infections
OMIM:242840	EPG5	57724	HP:0002721	Immunodeficiency
OMIM:242840	EPG5	57724	HP:0008348	Immunoglobulin IgG2 deficiency
OMIM:229700	FBP1	2203	HP:0002094	Dyspnea
OMIM:229700	FBP1	2203	HP:0002883	Hyperventilation
OMIM:229700	FBP1	2203	HP:0002240	Hepatomegaly
OMIM:229700	FBP1	2203	HP:0000007	Autosomal recessive inheritance
OMIM:229700	FBP1	2203	HP:0001943	Hypoglycemia
OMIM:229700	FBP1	2203	HP:0001945	Fever
OMIM:229700	FBP1	2203	HP:0001250	Seizures
OMIM:229700	FBP1	2203	HP:0001259	Coma
OMIM:229700	FBP1	2203	HP:0001290	Generalized hypotonia
OMIM:229700	FBP1	2203	HP:0001649	Tachycardia
OMIM:229700	FBP1	2203	HP:0001254	Lethargy
OMIM:229700	FBP1	2203	HP:0040301	Increased urinary glycerol
OMIM:229700	FBP1	2203	HP:0000737	Irritability
OMIM:229700	FBP1	2203	HP:0001942	Metabolic acidosis
OMIM:229700	FBP1	2203	HP:0002104	Apnea
OMIM:229700	FBP1	2203	HP:0001946	Ketosis
ORPHA:3206	LIFR	3977	HP:0002104	Apnea
ORPHA:3206	LIFR	3977	HP:0001762	Talipes equinovarus
ORPHA:3206	LIFR	3977	HP:0001511	Intrauterine growth retardation
ORPHA:3206	LIFR	3977	HP:0002099	Asthma
ORPHA:3206	LIFR	3977	HP:0001562	Oligohydramnios
ORPHA:3206	LIFR	3977	HP:0002757	Recurrent fractures
ORPHA:3206	LIFR	3977	HP:0000975	Hyperhidrosis
ORPHA:3206	LIFR	3977	HP:0000632	Lacrimation abnormality
ORPHA:3206	LIFR	3977	HP:0000211	Trismus
ORPHA:3206	LIFR	3977	HP:0008872	Feeding difficulties in infancy
ORPHA:3206	LIFR	3977	HP:0006380	Knee flexion contracture
ORPHA:3206	LIFR	3977	HP:0004322	Short stature
ORPHA:3206	LIFR	3977	HP:0010298	Smooth tongue
ORPHA:3206	LIFR	3977	HP:0000938	Osteopenia
ORPHA:3206	LIFR	3977	HP:0003016	Metaphyseal widening
ORPHA:3206	LIFR	3977	HP:0002098	Respiratory distress
ORPHA:3206	LIFR	3977	HP:0000504	Abnormality of vision
ORPHA:3206	LIFR	3977	HP:0002857	Genu valgum
ORPHA:3206	LIFR	3977	HP:0003401	Paresthesia
ORPHA:3206	LIFR	3977	HP:0002652	Skeletal dysplasia
ORPHA:3206	LIFR	3977	HP:0000966	Hypohidrosis
ORPHA:3206	LIFR	3977	HP:0002987	Elbow flexion contracture
ORPHA:3206	LIFR	3977	HP:0100490	Camptodactyly of finger
ORPHA:3206	LIFR	3977	HP:0002983	Micromelia
ORPHA:3206	LIFR	3977	HP:0007328	Impaired pain sensation
ORPHA:3206	LIFR	3977	HP:0002459	Dysautonomia
ORPHA:3206	LIFR	3977	HP:0000939	Osteoporosis
ORPHA:3206	LIFR	3977	HP:0001954	Episodic fever
ORPHA:3206	LIFR	3977	HP:0002650	Scoliosis
ORPHA:3206	LIFR	3977	HP:0000935	Thickened cortex of long bones
ORPHA:313855	FGFR2	2263	HP:0000894	Short clavicles
ORPHA:313855	FGFR2	2263	HP:0000695	Natal tooth
ORPHA:313855	FGFR2	2263	HP:0011223	Metopic depression
ORPHA:313855	FGFR2	2263	HP:0000212	Gingival overgrowth
ORPHA:313855	FGFR2	2263	HP:0001978	Extramedullary hematopoiesis
ORPHA:313855	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:313855	FGFR2	2263	HP:0030042	Incomplete ossification of pubis
ORPHA:313855	FGFR2	2263	HP:0000485	Megalocornea
ORPHA:313855	FGFR2	2263	HP:0004453	Overfolding of the superior helices
ORPHA:313855	FGFR2	2263	HP:0000369	Low-set ears
ORPHA:313855	FGFR2	2263	HP:0001156	Brachydactyly
ORPHA:313855	FGFR2	2263	HP:0004440	Coronal craniosynostosis
ORPHA:313855	FGFR2	2263	HP:0005474	Decreased calvarial ossification
ORPHA:313855	FGFR2	2263	HP:0008665	Clitoral hypertrophy
ORPHA:313855	FGFR2	2263	HP:0010455	Steep acetabular roof
ORPHA:313855	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:313855	FGFR2	2263	HP:0000347	Micrognathia
ORPHA:313855	FGFR2	2263	HP:0001007	Hirsutism
ORPHA:313855	FGFR2	2263	HP:0003175	Hypoplastic ischia
ORPHA:313855	FGFR2	2263	HP:0000938	Osteopenia
ORPHA:313855	FGFR2	2263	HP:0040166	Abnormality of the periosteum
ORPHA:313855	FGFR2	2263	HP:0007642	Congenital stationary night blindness
ORPHA:313855	FGFR2	2263	HP:0001591	Bell-shaped thorax
OMIM:617441	MPIG6B	80739	HP:0001873	Thrombocytopenia
OMIM:617441	MPIG6B	80739	HP:0000007	Autosomal recessive inheritance
OMIM:617441	MPIG6B	80739	HP:0001903	Anemia
OMIM:617441	MPIG6B	80739	HP:0004823	Anisopoikilocytosis
OMIM:615411	KIF2A	3796	HP:0001250	Seizures
OMIM:615411	KIF2A	3796	HP:0001302	Pachygyria
OMIM:615411	KIF2A	3796	HP:0000252	Microcephaly
OMIM:615411	KIF2A	3796	HP:0002539	Cortical dysplasia
OMIM:615411	KIF2A	3796	HP:0000006	Autosomal dominant inheritance
OMIM:615411	KIF2A	3796	HP:0001263	Global developmental delay
OMIM:615411	KIF2A	3796	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615411	KIF2A	3796	HP:0001339	Lissencephaly
OMIM:615411	KIF2A	3796	HP:0002510	Spastic tetraplegia
OMIM:608051	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:608051	PROM1	8842	HP:0000603	Central scotoma
OMIM:608051	PROM1	8842	HP:0030629	Perifoveal ring of hyperautofluorescence
OMIM:608051	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:608051	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:608051	PROM1	8842	HP:0007641	Dyschromatopsia
OMIM:608051	PROM1	8842	HP:0007793	Granular macular appearance
OMIM:608051	PROM1	8842	HP:0007754	Macular dystrophy
ORPHA:1509	TBX4	9496	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1509	TBX4	9496	HP:0001385	Hip dysplasia
ORPHA:1509	TBX4	9496	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:603	TIA1	7072	HP:0003198	Myopathy
OMIM:600195	TEK	7010	HP:0000153	Abnormality of the mouth
OMIM:600195	TEK	7010	HP:0012721	Venous malformation
OMIM:600195	TEK	7010	HP:0000006	Autosomal dominant inheritance
OMIM:600195	TEK	7010	HP:0002584	Intestinal bleeding
ORPHA:115	FBN2	2201	HP:0001519	Disproportionate tall stature
ORPHA:115	FBN2	2201	HP:0001166	Arachnodactyly
ORPHA:115	FBN2	2201	HP:0001387	Joint stiffness
ORPHA:115	FBN2	2201	HP:0001533	Slender build
ORPHA:115	FBN2	2201	HP:0100490	Camptodactyly of finger
ORPHA:115	FBN2	2201	HP:0000218	High palate
ORPHA:115	FBN2	2201	HP:0009901	Crumpled ear
ORPHA:115	FBN2	2201	HP:0008544	Abnormally folded helix
ORPHA:115	FBN2	2201	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:115	FBN2	2201	HP:0008453	Congenital kyphoscoliosis
ORPHA:705	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
ORPHA:705	SLC26A4	5172	HP:0000821	Hypothyroidism
ORPHA:705	SLC26A4	5172	HP:0008586	Hypoplasia of the cochlea
ORPHA:705	SLC26A4	5172	HP:0011387	Enlarged vestibular aqueduct
ORPHA:705	SLC26A4	5172	HP:0000853	Goiter
ORPHA:705	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
ORPHA:705	KCNJ10	3766	HP:0000821	Hypothyroidism
ORPHA:705	KCNJ10	3766	HP:0008586	Hypoplasia of the cochlea
ORPHA:705	KCNJ10	3766	HP:0011387	Enlarged vestibular aqueduct
ORPHA:705	KCNJ10	3766	HP:0000853	Goiter
ORPHA:705	FOXI1	2299	HP:0000407	Sensorineural hearing impairment
ORPHA:705	FOXI1	2299	HP:0000821	Hypothyroidism
ORPHA:705	FOXI1	2299	HP:0008586	Hypoplasia of the cochlea
ORPHA:705	FOXI1	2299	HP:0011387	Enlarged vestibular aqueduct
ORPHA:705	FOXI1	2299	HP:0000853	Goiter
OMIM:613211	WDR72	256764	HP:0000007	Autosomal recessive inheritance
OMIM:613211	WDR72	256764	HP:0011085	Hypomature dental enamel
OMIM:613211	WDR72	256764	HP:0000705	Amelogenesis imperfecta
OMIM:204870	TACSTD2	4070	HP:0000007	Autosomal recessive inheritance
OMIM:204870	TACSTD2	4070	HP:0000505	Visual impairment
OMIM:204870	TACSTD2	4070	HP:0000622	Blurred vision
OMIM:204870	TACSTD2	4070	HP:0011463	Childhood onset
OMIM:204870	TACSTD2	4070	HP:0001131	Corneal dystrophy
OMIM:204870	TACSTD2	4070	HP:0000613	Photophobia
OMIM:204870	TACSTD2	4070	HP:0007663	Reduced visual acuity
ORPHA:1422	HHAT	55733	HP:0000567	Chorioretinal coloboma
ORPHA:1422	HHAT	55733	HP:0001322	Brain very small
ORPHA:1422	HHAT	55733	HP:0000581	Blepharophimosis
ORPHA:1422	HHAT	55733	HP:0002983	Micromelia
ORPHA:1422	HHAT	55733	HP:0000616	Miosis
ORPHA:1422	HHAT	55733	HP:0005622	Broad long bones
ORPHA:1422	HHAT	55733	HP:0000506	Telecanthus
ORPHA:1422	HHAT	55733	HP:0000486	Strabismus
ORPHA:1422	HHAT	55733	HP:0000252	Microcephaly
ORPHA:1422	HHAT	55733	HP:0000400	Macrotia
ORPHA:1422	HHAT	55733	HP:0000774	Narrow chest
ORPHA:1422	HHAT	55733	HP:0003510	Severe short stature
ORPHA:1422	HHAT	55733	HP:0007676	Hypoplasia of the iris
ORPHA:1422	HHAT	55733	HP:0003043	Abnormality of the shoulder
ORPHA:1422	HHAT	55733	HP:0004330	Increased skull ossification
ORPHA:1422	HHAT	55733	HP:0001511	Intrauterine growth retardation
ORPHA:1422	HHAT	55733	HP:0000037	Male pseudohermaphroditism
ORPHA:1422	HHAT	55733	HP:0001249	Intellectual disability
ORPHA:1422	HHAT	55733	HP:0000490	Deeply set eye
ORPHA:1422	HHAT	55733	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:1422	HHAT	55733	HP:0009803	Short phalanx of finger
ORPHA:1422	HHAT	55733	HP:0010049	Short metacarpal
OMIM:117210	BEAN1	146227	HP:0002070	Limb ataxia
OMIM:117210	BEAN1	146227	HP:0007979	Gaze-evoked horizontal nystagmus
OMIM:117210	BEAN1	146227	HP:0001260	Dysarthria
OMIM:117210	BEAN1	146227	HP:0001251	Ataxia
OMIM:117210	BEAN1	146227	HP:0000006	Autosomal dominant inheritance
OMIM:117210	BEAN1	146227	HP:0001272	Cerebellar atrophy
OMIM:117210	BEAN1	146227	HP:0002066	Gait ataxia
OMIM:117210	BEAN1	146227	HP:0003584	Late onset
ORPHA:1788	SF3B4	10262	HP:0000912	Sprengel anomaly
ORPHA:1788	SF3B4	10262	HP:0006495	Aplasia/Hypoplasia of the ulna
ORPHA:1788	SF3B4	10262	HP:0001180	Hand oligodactyly
ORPHA:1788	SF3B4	10262	HP:0003038	Fibular hypoplasia
ORPHA:1788	SF3B4	10262	HP:0000272	Malar flattening
ORPHA:1788	SF3B4	10262	HP:0002974	Radioulnar synostosis
ORPHA:1788	SF3B4	10262	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:1788	SF3B4	10262	HP:0002139	Arrhinencephaly
ORPHA:1788	SF3B4	10262	HP:0002410	Aqueductal stenosis
ORPHA:1788	SF3B4	10262	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1788	SF3B4	10262	HP:0000426	Prominent nasal bridge
ORPHA:1788	SF3B4	10262	HP:0008551	Microtia
ORPHA:1788	SF3B4	10262	HP:0000308	Microretrognathia
ORPHA:1788	SF3B4	10262	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:139090	NBEAL2	23218	HP:0000132	Menorrhagia
OMIM:139090	NBEAL2	23218	HP:0003010	Prolonged bleeding time
OMIM:139090	NBEAL2	23218	HP:0008320	Impaired collagen-induced platelet aggregation
OMIM:139090	NBEAL2	23218	HP:0001744	Splenomegaly
OMIM:139090	NBEAL2	23218	HP:0000007	Autosomal recessive inheritance
OMIM:139090	NBEAL2	23218	HP:0000421	Epistaxis
OMIM:139090	NBEAL2	23218	HP:0011872	Impaired thrombin-induced platelet aggregation
OMIM:139090	NBEAL2	23218	HP:0011974	Myelofibrosis
OMIM:139090	NBEAL2	23218	HP:0012147	Reduced quantity of Von Willebrand factor
OMIM:139090	NBEAL2	23218	HP:0003676	Progressive
OMIM:139090	NBEAL2	23218	HP:0000978	Bruising susceptibility
OMIM:139090	NBEAL2	23218	HP:0001873	Thrombocytopenia
OMIM:139090	NBEAL2	23218	HP:0000006	Autosomal dominant inheritance
OMIM:139090	NBEAL2	23218	HP:0008330	Reduced von Willebrand factor activity
ORPHA:275864	GRN	2896	HP:0000711	Restlessness
ORPHA:275864	GRN	2896	HP:0000718	Aggressive behavior
ORPHA:275864	GRN	2896	HP:0000737	Irritability
ORPHA:275864	GRN	2896	HP:0010522	Dyslexia
ORPHA:275864	GRN	2896	HP:0030212	Collectionism
ORPHA:275864	GRN	2896	HP:0000723	Restrictive behavior
ORPHA:275864	GRN	2896	HP:0030223	Perseveration
ORPHA:275864	GRN	2896	HP:0010529	Echolalia
ORPHA:275864	GRN	2896	HP:0000734	Disinhibition
ORPHA:275864	GRN	2896	HP:0002145	Frontotemporal dementia
ORPHA:275864	GRN	2896	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	GRN	2896	HP:0002465	Poor speech
ORPHA:275864	GRN	2896	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	GRN	2896	HP:0000733	Stereotypy
ORPHA:275864	GRN	2896	HP:0000710	Hyperorality
ORPHA:275864	GRN	2896	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	GRN	2896	HP:0030213	Emotional blunting
ORPHA:275864	GRN	2896	HP:0000719	Inappropriate behavior
ORPHA:275864	GRN	2896	HP:0002354	Memory impairment
ORPHA:275864	GRN	2896	HP:0010526	Dysgraphia
ORPHA:275864	GRN	2896	HP:0002371	Loss of speech
ORPHA:275864	GRN	2896	HP:0002442	Dyscalculia
ORPHA:275864	GRN	2896	HP:0011204	EEG with continuous slow activity
ORPHA:275864	GRN	2896	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	GRN	2896	HP:0000757	Lack of insight
ORPHA:275864	GRN	2896	HP:0002357	Dysphasia
ORPHA:275864	GRN	2896	HP:0000751	Personality changes
ORPHA:275864	TREM2	54209	HP:0000711	Restlessness
ORPHA:275864	TREM2	54209	HP:0000718	Aggressive behavior
ORPHA:275864	TREM2	54209	HP:0000737	Irritability
ORPHA:275864	TREM2	54209	HP:0010522	Dyslexia
ORPHA:275864	TREM2	54209	HP:0030212	Collectionism
ORPHA:275864	TREM2	54209	HP:0000723	Restrictive behavior
ORPHA:275864	TREM2	54209	HP:0030223	Perseveration
ORPHA:275864	TREM2	54209	HP:0010529	Echolalia
ORPHA:275864	TREM2	54209	HP:0000734	Disinhibition
ORPHA:275864	TREM2	54209	HP:0002145	Frontotemporal dementia
ORPHA:275864	TREM2	54209	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	TREM2	54209	HP:0002465	Poor speech
ORPHA:275864	TREM2	54209	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	TREM2	54209	HP:0000733	Stereotypy
ORPHA:275864	TREM2	54209	HP:0000710	Hyperorality
ORPHA:275864	TREM2	54209	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	TREM2	54209	HP:0030213	Emotional blunting
ORPHA:275864	TREM2	54209	HP:0000719	Inappropriate behavior
ORPHA:275864	TREM2	54209	HP:0002354	Memory impairment
ORPHA:275864	TREM2	54209	HP:0010526	Dysgraphia
ORPHA:275864	TREM2	54209	HP:0002371	Loss of speech
ORPHA:275864	TREM2	54209	HP:0002442	Dyscalculia
ORPHA:275864	TREM2	54209	HP:0011204	EEG with continuous slow activity
ORPHA:275864	TREM2	54209	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	TREM2	54209	HP:0000757	Lack of insight
ORPHA:275864	TREM2	54209	HP:0002357	Dysphasia
ORPHA:275864	TREM2	54209	HP:0000751	Personality changes
ORPHA:275864	VCP	7415	HP:0000711	Restlessness
ORPHA:275864	VCP	7415	HP:0000718	Aggressive behavior
ORPHA:275864	VCP	7415	HP:0000737	Irritability
ORPHA:275864	VCP	7415	HP:0010522	Dyslexia
ORPHA:275864	VCP	7415	HP:0030212	Collectionism
ORPHA:275864	VCP	7415	HP:0000723	Restrictive behavior
ORPHA:275864	VCP	7415	HP:0030223	Perseveration
ORPHA:275864	VCP	7415	HP:0010529	Echolalia
ORPHA:275864	VCP	7415	HP:0000734	Disinhibition
ORPHA:275864	VCP	7415	HP:0002145	Frontotemporal dementia
ORPHA:275864	VCP	7415	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	VCP	7415	HP:0002465	Poor speech
ORPHA:275864	VCP	7415	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	VCP	7415	HP:0000733	Stereotypy
ORPHA:275864	VCP	7415	HP:0000710	Hyperorality
ORPHA:275864	VCP	7415	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	VCP	7415	HP:0030213	Emotional blunting
ORPHA:275864	VCP	7415	HP:0000719	Inappropriate behavior
ORPHA:275864	VCP	7415	HP:0002354	Memory impairment
ORPHA:275864	VCP	7415	HP:0010526	Dysgraphia
ORPHA:275864	VCP	7415	HP:0002371	Loss of speech
ORPHA:275864	VCP	7415	HP:0002442	Dyscalculia
ORPHA:275864	VCP	7415	HP:0011204	EEG with continuous slow activity
ORPHA:275864	VCP	7415	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	VCP	7415	HP:0000757	Lack of insight
ORPHA:275864	VCP	7415	HP:0002357	Dysphasia
ORPHA:275864	VCP	7415	HP:0000751	Personality changes
ORPHA:275864	TMEM106B	54664	HP:0000711	Restlessness
ORPHA:275864	TMEM106B	54664	HP:0000718	Aggressive behavior
ORPHA:275864	TMEM106B	54664	HP:0000737	Irritability
ORPHA:275864	TMEM106B	54664	HP:0010522	Dyslexia
ORPHA:275864	TMEM106B	54664	HP:0030212	Collectionism
ORPHA:275864	TMEM106B	54664	HP:0000723	Restrictive behavior
ORPHA:275864	TMEM106B	54664	HP:0030223	Perseveration
ORPHA:275864	TMEM106B	54664	HP:0010529	Echolalia
ORPHA:275864	TMEM106B	54664	HP:0000734	Disinhibition
ORPHA:275864	TMEM106B	54664	HP:0002145	Frontotemporal dementia
ORPHA:275864	TMEM106B	54664	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	TMEM106B	54664	HP:0002465	Poor speech
ORPHA:275864	TMEM106B	54664	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	TMEM106B	54664	HP:0000733	Stereotypy
ORPHA:275864	TMEM106B	54664	HP:0000710	Hyperorality
ORPHA:275864	TMEM106B	54664	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	TMEM106B	54664	HP:0030213	Emotional blunting
ORPHA:275864	TMEM106B	54664	HP:0000719	Inappropriate behavior
ORPHA:275864	TMEM106B	54664	HP:0002354	Memory impairment
ORPHA:275864	TMEM106B	54664	HP:0010526	Dysgraphia
ORPHA:275864	TMEM106B	54664	HP:0002371	Loss of speech
ORPHA:275864	TMEM106B	54664	HP:0002442	Dyscalculia
ORPHA:275864	TMEM106B	54664	HP:0011204	EEG with continuous slow activity
ORPHA:275864	TMEM106B	54664	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	TMEM106B	54664	HP:0000757	Lack of insight
ORPHA:275864	TMEM106B	54664	HP:0002357	Dysphasia
ORPHA:275864	TMEM106B	54664	HP:0000751	Personality changes
ORPHA:275864	MAPT	4137	HP:0000711	Restlessness
ORPHA:275864	MAPT	4137	HP:0000718	Aggressive behavior
ORPHA:275864	MAPT	4137	HP:0000737	Irritability
ORPHA:275864	MAPT	4137	HP:0010522	Dyslexia
ORPHA:275864	MAPT	4137	HP:0030212	Collectionism
ORPHA:275864	MAPT	4137	HP:0000723	Restrictive behavior
ORPHA:275864	MAPT	4137	HP:0030223	Perseveration
ORPHA:275864	MAPT	4137	HP:0010529	Echolalia
ORPHA:275864	MAPT	4137	HP:0000734	Disinhibition
ORPHA:275864	MAPT	4137	HP:0002145	Frontotemporal dementia
ORPHA:275864	MAPT	4137	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	MAPT	4137	HP:0002465	Poor speech
ORPHA:275864	MAPT	4137	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	MAPT	4137	HP:0000733	Stereotypy
ORPHA:275864	MAPT	4137	HP:0000710	Hyperorality
ORPHA:275864	MAPT	4137	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	MAPT	4137	HP:0030213	Emotional blunting
ORPHA:275864	MAPT	4137	HP:0000719	Inappropriate behavior
ORPHA:275864	MAPT	4137	HP:0002354	Memory impairment
ORPHA:275864	MAPT	4137	HP:0010526	Dysgraphia
ORPHA:275864	MAPT	4137	HP:0002371	Loss of speech
ORPHA:275864	MAPT	4137	HP:0002442	Dyscalculia
ORPHA:275864	MAPT	4137	HP:0011204	EEG with continuous slow activity
ORPHA:275864	MAPT	4137	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	MAPT	4137	HP:0000757	Lack of insight
ORPHA:275864	MAPT	4137	HP:0002357	Dysphasia
ORPHA:275864	MAPT	4137	HP:0000751	Personality changes
ORPHA:275864	CHMP2B	25978	HP:0000711	Restlessness
ORPHA:275864	CHMP2B	25978	HP:0000718	Aggressive behavior
ORPHA:275864	CHMP2B	25978	HP:0000737	Irritability
ORPHA:275864	CHMP2B	25978	HP:0010522	Dyslexia
ORPHA:275864	CHMP2B	25978	HP:0030212	Collectionism
ORPHA:275864	CHMP2B	25978	HP:0000723	Restrictive behavior
ORPHA:275864	CHMP2B	25978	HP:0030223	Perseveration
ORPHA:275864	CHMP2B	25978	HP:0010529	Echolalia
ORPHA:275864	CHMP2B	25978	HP:0000734	Disinhibition
ORPHA:275864	CHMP2B	25978	HP:0002145	Frontotemporal dementia
ORPHA:275864	CHMP2B	25978	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	CHMP2B	25978	HP:0002465	Poor speech
ORPHA:275864	CHMP2B	25978	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	CHMP2B	25978	HP:0000733	Stereotypy
ORPHA:275864	CHMP2B	25978	HP:0000710	Hyperorality
ORPHA:275864	CHMP2B	25978	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	CHMP2B	25978	HP:0030213	Emotional blunting
ORPHA:275864	CHMP2B	25978	HP:0000719	Inappropriate behavior
ORPHA:275864	CHMP2B	25978	HP:0002354	Memory impairment
ORPHA:275864	CHMP2B	25978	HP:0010526	Dysgraphia
ORPHA:275864	CHMP2B	25978	HP:0002371	Loss of speech
ORPHA:275864	CHMP2B	25978	HP:0002442	Dyscalculia
ORPHA:275864	CHMP2B	25978	HP:0011204	EEG with continuous slow activity
ORPHA:275864	CHMP2B	25978	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	CHMP2B	25978	HP:0000757	Lack of insight
ORPHA:275864	CHMP2B	25978	HP:0002357	Dysphasia
ORPHA:275864	CHMP2B	25978	HP:0000751	Personality changes
ORPHA:275864	SQSTM1	8878	HP:0000711	Restlessness
ORPHA:275864	SQSTM1	8878	HP:0000718	Aggressive behavior
ORPHA:275864	SQSTM1	8878	HP:0000737	Irritability
ORPHA:275864	SQSTM1	8878	HP:0010522	Dyslexia
ORPHA:275864	SQSTM1	8878	HP:0030212	Collectionism
ORPHA:275864	SQSTM1	8878	HP:0000723	Restrictive behavior
ORPHA:275864	SQSTM1	8878	HP:0030223	Perseveration
ORPHA:275864	SQSTM1	8878	HP:0010529	Echolalia
ORPHA:275864	SQSTM1	8878	HP:0000734	Disinhibition
ORPHA:275864	SQSTM1	8878	HP:0002145	Frontotemporal dementia
ORPHA:275864	SQSTM1	8878	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	SQSTM1	8878	HP:0002465	Poor speech
ORPHA:275864	SQSTM1	8878	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	SQSTM1	8878	HP:0000733	Stereotypy
ORPHA:275864	SQSTM1	8878	HP:0000710	Hyperorality
ORPHA:275864	SQSTM1	8878	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	SQSTM1	8878	HP:0030213	Emotional blunting
ORPHA:275864	SQSTM1	8878	HP:0000719	Inappropriate behavior
ORPHA:275864	SQSTM1	8878	HP:0002354	Memory impairment
ORPHA:275864	SQSTM1	8878	HP:0010526	Dysgraphia
ORPHA:275864	SQSTM1	8878	HP:0002371	Loss of speech
ORPHA:275864	SQSTM1	8878	HP:0002442	Dyscalculia
ORPHA:275864	SQSTM1	8878	HP:0011204	EEG with continuous slow activity
ORPHA:275864	SQSTM1	8878	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	SQSTM1	8878	HP:0000757	Lack of insight
ORPHA:275864	SQSTM1	8878	HP:0002357	Dysphasia
ORPHA:275864	SQSTM1	8878	HP:0000751	Personality changes
ORPHA:275864	PSEN1	5663	HP:0000711	Restlessness
ORPHA:275864	PSEN1	5663	HP:0000718	Aggressive behavior
ORPHA:275864	PSEN1	5663	HP:0000737	Irritability
ORPHA:275864	PSEN1	5663	HP:0010522	Dyslexia
ORPHA:275864	PSEN1	5663	HP:0030212	Collectionism
ORPHA:275864	PSEN1	5663	HP:0000723	Restrictive behavior
ORPHA:275864	PSEN1	5663	HP:0030223	Perseveration
ORPHA:275864	PSEN1	5663	HP:0010529	Echolalia
ORPHA:275864	PSEN1	5663	HP:0000734	Disinhibition
ORPHA:275864	PSEN1	5663	HP:0002145	Frontotemporal dementia
ORPHA:275864	PSEN1	5663	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	PSEN1	5663	HP:0002465	Poor speech
ORPHA:275864	PSEN1	5663	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	PSEN1	5663	HP:0000733	Stereotypy
ORPHA:275864	PSEN1	5663	HP:0000710	Hyperorality
ORPHA:275864	PSEN1	5663	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	PSEN1	5663	HP:0030213	Emotional blunting
ORPHA:275864	PSEN1	5663	HP:0000719	Inappropriate behavior
ORPHA:275864	PSEN1	5663	HP:0002354	Memory impairment
ORPHA:275864	PSEN1	5663	HP:0010526	Dysgraphia
ORPHA:275864	PSEN1	5663	HP:0002371	Loss of speech
ORPHA:275864	PSEN1	5663	HP:0002442	Dyscalculia
ORPHA:275864	PSEN1	5663	HP:0011204	EEG with continuous slow activity
ORPHA:275864	PSEN1	5663	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	PSEN1	5663	HP:0000757	Lack of insight
ORPHA:275864	PSEN1	5663	HP:0002357	Dysphasia
ORPHA:275864	PSEN1	5663	HP:0000751	Personality changes
ORPHA:275864	C9ORF72	203228	HP:0000711	Restlessness
ORPHA:275864	C9ORF72	203228	HP:0000718	Aggressive behavior
ORPHA:275864	C9ORF72	203228	HP:0000737	Irritability
ORPHA:275864	C9ORF72	203228	HP:0010522	Dyslexia
ORPHA:275864	C9ORF72	203228	HP:0030212	Collectionism
ORPHA:275864	C9ORF72	203228	HP:0000723	Restrictive behavior
ORPHA:275864	C9ORF72	203228	HP:0030223	Perseveration
ORPHA:275864	C9ORF72	203228	HP:0010529	Echolalia
ORPHA:275864	C9ORF72	203228	HP:0000734	Disinhibition
ORPHA:275864	C9ORF72	203228	HP:0002145	Frontotemporal dementia
ORPHA:275864	C9ORF72	203228	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:275864	C9ORF72	203228	HP:0002465	Poor speech
ORPHA:275864	C9ORF72	203228	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:275864	C9ORF72	203228	HP:0000733	Stereotypy
ORPHA:275864	C9ORF72	203228	HP:0000710	Hyperorality
ORPHA:275864	C9ORF72	203228	HP:0002500	Abnormality of the cerebral white matter
ORPHA:275864	C9ORF72	203228	HP:0030213	Emotional blunting
ORPHA:275864	C9ORF72	203228	HP:0000719	Inappropriate behavior
ORPHA:275864	C9ORF72	203228	HP:0002354	Memory impairment
ORPHA:275864	C9ORF72	203228	HP:0010526	Dysgraphia
ORPHA:275864	C9ORF72	203228	HP:0002371	Loss of speech
ORPHA:275864	C9ORF72	203228	HP:0002442	Dyscalculia
ORPHA:275864	C9ORF72	203228	HP:0011204	EEG with continuous slow activity
ORPHA:275864	C9ORF72	203228	HP:0000474	Thickened nuchal skin fold
ORPHA:275864	C9ORF72	203228	HP:0000757	Lack of insight
ORPHA:275864	C9ORF72	203228	HP:0002357	Dysphasia
ORPHA:275864	C9ORF72	203228	HP:0000751	Personality changes
OMIM:601626	KRAS	3845	HP:0004808	Acute myeloid leukemia
OMIM:601626	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:601626	CEBPA	1050	HP:0004808	Acute myeloid leukemia
OMIM:601626	CEBPA	1050	HP:0000006	Autosomal dominant inheritance
ORPHA:254704	FTL	2512	HP:0003281	Increased serum ferritin
OMIM:600251	SPECC1L	23384	HP:0003745	Sporadic
OMIM:600251	SPECC1L	23384	HP:0000204	Cleft upper lip
OMIM:600251	SPECC1L	23384	HP:0000007	Autosomal recessive inheritance
OMIM:600251	SPECC1L	23384	HP:0000924	Abnormality of the skeletal system
OMIM:600251	SPECC1L	23384	HP:0000175	Cleft palate
OMIM:600251	SPECC1L	23384	HP:0002006	Facial cleft
OMIM:611105	DARS2	55157	HP:0002352	Leukoencephalopathy
OMIM:611105	DARS2	55157	HP:0003202	Skeletal muscle atrophy
OMIM:611105	DARS2	55157	HP:0001251	Ataxia
OMIM:611105	DARS2	55157	HP:0001337	Tremor
OMIM:611105	DARS2	55157	HP:0003477	Peripheral axonal neuropathy
OMIM:611105	DARS2	55157	HP:0003828	Variable expressivity
OMIM:611105	DARS2	55157	HP:0000007	Autosomal recessive inheritance
OMIM:611105	DARS2	55157	HP:0001270	Motor delay
OMIM:611105	DARS2	55157	HP:0001265	Hyporeflexia
OMIM:611105	DARS2	55157	HP:0003677	Slow progression
OMIM:611105	DARS2	55157	HP:0000639	Nystagmus
OMIM:611105	DARS2	55157	HP:0001371	Flexion contracture
OMIM:611105	DARS2	55157	HP:0001347	Hyperreflexia
OMIM:611105	DARS2	55157	HP:0001324	Muscle weakness
OMIM:611105	DARS2	55157	HP:0003487	Babinski sign
OMIM:611105	DARS2	55157	HP:0001257	Spasticity
ORPHA:228302	CPT2	1376	HP:0000083	Renal insufficiency
ORPHA:228302	CPT2	1376	HP:0001324	Muscle weakness
ORPHA:228302	CPT2	1376	HP:0003326	Myalgia
ORPHA:228302	CPT2	1376	HP:0012378	Fatigue
ORPHA:228302	CPT2	1376	HP:0003198	Myopathy
ORPHA:228302	CPT2	1376	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615485	ASXL3	80816	HP:0008850	Severe postnatal growth retardation
OMIM:615485	ASXL3	80816	HP:0011344	Severe global developmental delay
OMIM:615485	ASXL3	80816	HP:0000463	Anteverted nares
OMIM:615485	ASXL3	80816	HP:0011968	Feeding difficulties
OMIM:615485	ASXL3	80816	HP:0002553	Highly arched eyebrow
OMIM:243310	ACTB	60	HP:0000028	Cryptorchidism
OMIM:243310	ACTB	60	HP:0000243	Trigonocephaly
OMIM:243310	ACTB	60	HP:0001302	Pachygyria
OMIM:243310	ACTB	60	HP:0000463	Anteverted nares
OMIM:243310	ACTB	60	HP:0007930	Prominent epicanthal folds
OMIM:243310	ACTB	60	HP:0001290	Generalized hypotonia
OMIM:243310	ACTB	60	HP:0000219	Thin upper lip vermilion
OMIM:243310	ACTB	60	HP:0003196	Short nose
OMIM:243310	ACTB	60	HP:0000612	Iris coloboma
OMIM:243310	ACTB	60	HP:0000252	Microcephaly
OMIM:243310	ACTB	60	HP:0000567	Chorioretinal coloboma
OMIM:243310	ACTB	60	HP:0000396	Overfolded helix
OMIM:243310	ACTB	60	HP:0000637	Long palpebral fissure
OMIM:243310	ACTB	60	HP:0001650	Aortic valve stenosis
OMIM:243310	ACTB	60	HP:0000006	Autosomal dominant inheritance
OMIM:243310	ACTB	60	HP:0001263	Global developmental delay
OMIM:243310	ACTB	60	HP:0000407	Sensorineural hearing impairment
OMIM:243310	ACTB	60	HP:0008897	Postnatal growth retardation
OMIM:243310	ACTB	60	HP:0000307	Pointed chin
OMIM:243310	ACTB	60	HP:0001339	Lissencephaly
OMIM:243310	ACTB	60	HP:0000431	Wide nasal bridge
OMIM:243310	ACTB	60	HP:0000508	Ptosis
OMIM:243310	ACTB	60	HP:0000470	Short neck
OMIM:243310	ACTB	60	HP:0000054	Micropenis
OMIM:243310	ACTB	60	HP:0000316	Hypertelorism
OMIM:243310	ACTB	60	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:243310	ACTB	60	HP:0001643	Patent ductus arteriosus
OMIM:243310	ACTB	60	HP:0001647	Bicuspid aortic valve
OMIM:243310	ACTB	60	HP:0004322	Short stature
OMIM:243310	ACTB	60	HP:0001250	Seizures
OMIM:243310	ACTB	60	HP:0000007	Autosomal recessive inheritance
OMIM:243310	ACTB	60	HP:0000343	Long philtrum
OMIM:243310	ACTB	60	HP:0000154	Wide mouth
OMIM:243310	ACTB	60	HP:0001249	Intellectual disability
OMIM:243310	ACTB	60	HP:0002162	Low posterior hairline
OMIM:243310	ACTB	60	HP:0000369	Low-set ears
OMIM:243310	ACTB	60	HP:0001274	Agenesis of corpus callosum
OMIM:610444	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:610444	GNAT1	2779	HP:0000006	Autosomal dominant inheritance
ORPHA:930	NOS1	4842	HP:0002571	Achalasia
ORPHA:930	HLA-DQA1	3117	HP:0002571	Achalasia
ORPHA:930	HLA-DQB1	3119	HP:0002571	Achalasia
OMIM:611588	FKTN	2218	HP:0003593	Infantile onset
OMIM:611588	FKTN	2218	HP:0003828	Variable expressivity
OMIM:611588	FKTN	2218	HP:0003712	Skeletal muscle hypertrophy
OMIM:611588	FKTN	2218	HP:0001371	Flexion contracture
OMIM:611588	FKTN	2218	HP:0003391	Gowers sign
OMIM:611588	FKTN	2218	HP:0003676	Progressive
OMIM:611588	FKTN	2218	HP:0001290	Generalized hypotonia
OMIM:611588	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:611588	FKTN	2218	HP:0001270	Motor delay
OMIM:611588	FKTN	2218	HP:0000767	Pectus excavatum
OMIM:611588	FKTN	2218	HP:0001265	Hyporeflexia
OMIM:611588	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611588	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:611588	FKTN	2218	HP:0003307	Hyperlordosis
OMIM:613107	GFI1	2672	HP:0010976	B lymphocytopenia
OMIM:613107	GFI1	2672	HP:0012311	Monocytosis
OMIM:613107	GFI1	2672	HP:0000006	Autosomal dominant inheritance
OMIM:613107	GFI1	2672	HP:0005549	Congenital neutropenia
ORPHA:2398	MFN2	9927	HP:0002240	Hepatomegaly
ORPHA:2398	MFN2	9927	HP:0001012	Multiple lipomas
ORPHA:2398	MFN2	9927	HP:0001288	Gait disturbance
ORPHA:2398	MFN2	9927	HP:0002829	Arthralgia
ORPHA:2398	MFN2	9927	HP:0003401	Paresthesia
ORPHA:2398	MFN2	9927	HP:0000855	Insulin resistance
ORPHA:2398	MFN2	9927	HP:0001315	Reduced tendon reflexes
ORPHA:2398	MFN2	9927	HP:0001387	Joint stiffness
OMIM:249270	SLC19A2	10560	HP:0001609	Hoarse voice
OMIM:249270	SLC19A2	10560	HP:0003355	Aminoaciduria
OMIM:249270	SLC19A2	10560	HP:0001924	Sideroblastic anemia
OMIM:249270	SLC19A2	10560	HP:0000572	Visual loss
OMIM:249270	SLC19A2	10560	HP:0000639	Nystagmus
OMIM:249270	SLC19A2	10560	HP:0000951	Abnormality of the skin
OMIM:249270	SLC19A2	10560	HP:0011675	Arrhythmia
OMIM:249270	SLC19A2	10560	HP:0001631	Atrial septal defect
OMIM:249270	SLC19A2	10560	HP:0000548	Cone/cone-rod dystrophy
OMIM:249270	SLC19A2	10560	HP:0000546	Retinal degeneration
OMIM:249270	SLC19A2	10560	HP:0001873	Thrombocytopenia
OMIM:249270	SLC19A2	10560	HP:0004860	Thiamine-responsive megaloblastic anemia
OMIM:249270	SLC19A2	10560	HP:0000648	Optic atrophy
OMIM:249270	SLC19A2	10560	HP:0000819	Diabetes mellitus
OMIM:249270	SLC19A2	10560	HP:0004322	Short stature
OMIM:249270	SLC19A2	10560	HP:0000007	Autosomal recessive inheritance
OMIM:249270	SLC19A2	10560	HP:0000407	Sensorineural hearing impairment
OMIM:249270	SLC19A2	10560	HP:0001629	Ventricular septal defect
ORPHA:178509	DCTN1	1639	HP:0001300	Parkinsonism
ORPHA:178509	DCTN1	1639	HP:0001337	Tremor
ORPHA:178509	DCTN1	1639	HP:0007110	Central hypoventilation
ORPHA:178509	DCTN1	1639	HP:0000741	Apathy
ORPHA:178509	DCTN1	1639	HP:0000716	Depressivity
ORPHA:178509	DCTN1	1639	HP:0002360	Sleep disturbance
ORPHA:178509	DCTN1	1639	HP:0001824	Weight loss
OMIM:611718	EGF	1950	HP:0000007	Autosomal recessive inheritance
OMIM:613981	KRT74	121391	HP:0004782	Hypotrichosis of the scalp
OMIM:613981	KRT74	121391	HP:0000006	Autosomal dominant inheritance
ORPHA:314802	GHR	2690	HP:0030353	Decreased serum insulin-like growth factor 1
ORPHA:314802	GHR	2690	HP:0004322	Short stature
ORPHA:314802	GHR	2690	HP:0002750	Delayed skeletal maturation
OMIM:604187	KIF5A	3798	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604187	KIF5A	3798	HP:0002650	Scoliosis
OMIM:604187	KIF5A	3798	HP:0003487	Babinski sign
OMIM:604187	KIF5A	3798	HP:0000006	Autosomal dominant inheritance
OMIM:604187	KIF5A	3798	HP:0011449	Knee clonus
OMIM:604187	KIF5A	3798	HP:0003676	Progressive
OMIM:604187	KIF5A	3798	HP:0007340	Lower limb muscle weakness
OMIM:604187	KIF5A	3798	HP:0001761	Pes cavus
OMIM:604187	KIF5A	3798	HP:0002936	Distal sensory impairment
OMIM:604187	KIF5A	3798	HP:0011448	Ankle clonus
OMIM:604187	KIF5A	3798	HP:0000020	Urinary incontinence
OMIM:604187	KIF5A	3798	HP:0003812	Phenotypic variability
OMIM:604187	KIF5A	3798	HP:0002064	Spastic gait
OMIM:604187	KIF5A	3798	HP:0000012	Urinary urgency
OMIM:604187	KIF5A	3798	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604187	KIF5A	3798	HP:0001258	Spastic paraplegia
OMIM:604187	KIF5A	3798	HP:0001347	Hyperreflexia
ORPHA:251071	GATA4	2626	HP:0000348	High forehead
ORPHA:251071	GATA4	2626	HP:0001250	Seizures
ORPHA:251071	GATA4	2626	HP:0000252	Microcephaly
ORPHA:251071	GATA4	2626	HP:0100625	Enlarged thorax
ORPHA:251071	GATA4	2626	HP:0000218	High palate
ORPHA:251071	GATA4	2626	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:251071	GATA4	2626	HP:0000470	Short neck
ORPHA:251071	GATA4	2626	HP:0006610	Wide intermamillary distance
ORPHA:251071	GATA4	2626	HP:0004322	Short stature
ORPHA:251071	GATA4	2626	HP:0001511	Intrauterine growth retardation
ORPHA:251071	GATA4	2626	HP:0000431	Wide nasal bridge
ORPHA:251071	GATA4	2626	HP:0004422	Biparietal narrowing
ORPHA:251071	GATA4	2626	HP:0006695	Atrioventricular canal defect
ORPHA:251071	GATA4	2626	HP:0000047	Hypospadias
ORPHA:251071	GATA4	2626	HP:0001182	Tapered finger
ORPHA:251071	GATA4	2626	HP:0003196	Short nose
ORPHA:251071	GATA4	2626	HP:0000347	Micrognathia
ORPHA:251071	GATA4	2626	HP:0001263	Global developmental delay
ORPHA:251071	GATA4	2626	HP:0004415	Pulmonary artery stenosis
ORPHA:251071	GATA4	2626	HP:0000286	Epicanthus
ORPHA:251071	GATA4	2626	HP:0001824	Weight loss
ORPHA:251071	GATA4	2626	HP:0008572	External ear malformation
ORPHA:251071	GATA4	2626	HP:0000028	Cryptorchidism
ORPHA:251071	GATA4	2626	HP:0000369	Low-set ears
ORPHA:251071	GATA4	2626	HP:0001256	Intellectual disability, mild
ORPHA:251071	GATA4	2626	HP:0002465	Poor speech
ORPHA:352723	LYST	1130	HP:0001249	Intellectual disability
ORPHA:352723	LYST	1130	HP:0009830	Peripheral neuropathy
ORPHA:352723	LYST	1130	HP:0000421	Epistaxis
ORPHA:352723	LYST	1130	HP:0000978	Bruising susceptibility
ORPHA:352723	LYST	1130	HP:0002721	Immunodeficiency
ORPHA:352723	LYST	1130	HP:0200042	Skin ulcer
ORPHA:352723	LYST	1130	HP:0001928	Abnormality of coagulation
ORPHA:352723	LYST	1130	HP:0002205	Recurrent respiratory infections
ORPHA:352723	LYST	1130	HP:0007513	Generalized hypopigmentation
ORPHA:352723	LYST	1130	HP:0001107	Ocular albinism
ORPHA:352723	LYST	1130	HP:0000225	Gingival bleeding
OMIM:131760	KRT14	3861	HP:0002164	Nail dysplasia
OMIM:131760	KRT14	3861	HP:0003623	Neonatal onset
OMIM:131760	KRT14	3861	HP:0008066	Abnormal blistering of the skin
OMIM:131760	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:131760	KRT14	3861	HP:0001056	Milia
OMIM:131760	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131760	KRT14	3861	HP:0000972	Palmoplantar hyperkeratosis
OMIM:131760	KRT14	3861	HP:0001510	Growth delay
OMIM:131760	KRT5	3852	HP:0002164	Nail dysplasia
OMIM:131760	KRT5	3852	HP:0003623	Neonatal onset
OMIM:131760	KRT5	3852	HP:0008066	Abnormal blistering of the skin
OMIM:131760	KRT5	3852	HP:0008404	Nail dystrophy
OMIM:131760	KRT5	3852	HP:0001056	Milia
OMIM:131760	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131760	KRT5	3852	HP:0000972	Palmoplantar hyperkeratosis
OMIM:131760	KRT5	3852	HP:0001510	Growth delay
OMIM:615376	PLEKHG5	57449	HP:0001765	Hammertoe
OMIM:615376	PLEKHG5	57449	HP:0001284	Areflexia
OMIM:615376	PLEKHG5	57449	HP:0001761	Pes cavus
OMIM:615376	PLEKHG5	57449	HP:0002460	Distal muscle weakness
OMIM:615376	PLEKHG5	57449	HP:0000007	Autosomal recessive inheritance
OMIM:615376	PLEKHG5	57449	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:615376	PLEKHG5	57449	HP:0003431	Decreased motor nerve conduction velocity
OMIM:615376	PLEKHG5	57449	HP:0002936	Distal sensory impairment
OMIM:615376	PLEKHG5	57449	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
OMIM:607015	IDUA	3425	HP:0001744	Splenomegaly
OMIM:607015	IDUA	3425	HP:0001387	Joint stiffness
OMIM:607015	IDUA	3425	HP:0004322	Short stature
OMIM:607015	IDUA	3425	HP:0000347	Micrognathia
OMIM:607015	IDUA	3425	HP:0000943	Dysostosis multiplex
OMIM:607015	IDUA	3425	HP:0001653	Mitral regurgitation
OMIM:607015	IDUA	3425	HP:0002240	Hepatomegaly
OMIM:607015	IDUA	3425	HP:0002777	Tracheal stenosis
OMIM:607015	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607015	IDUA	3425	HP:0002092	Pulmonary arterial hypertension
OMIM:607015	IDUA	3425	HP:0002870	Obstructive sleep apnea
OMIM:607015	IDUA	3425	HP:0001537	Umbilical hernia
OMIM:607015	IDUA	3425	HP:0002808	Kyphosis
OMIM:607015	IDUA	3425	HP:0001007	Hirsutism
OMIM:607015	IDUA	3425	HP:0002650	Scoliosis
OMIM:607015	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:607015	IDUA	3425	HP:0001659	Aortic regurgitation
OMIM:607015	IDUA	3425	HP:0002205	Recurrent respiratory infections
OMIM:607015	IDUA	3425	HP:0007957	Corneal opacity
OMIM:607015	IDUA	3425	HP:0012471	Thick vermilion border
OMIM:600625	BMP4	652	HP:0002006	Facial cleft
OMIM:600625	BMP4	652	HP:0000202	Oral cleft
OMIM:600625	BMP4	652	HP:0001472	Familial predisposition
OMIM:615881	ANGPTL4	51129	HP:0000006	Autosomal dominant inheritance
OMIM:617271	MAPKBP1	23005	HP:0000090	Nephronophthisis
OMIM:617271	MAPKBP1	23005	HP:0003774	Stage 5 chronic kidney disease
OMIM:617271	MAPKBP1	23005	HP:0000007	Autosomal recessive inheritance
OMIM:617271	MAPKBP1	23005	HP:0000107	Renal cyst
OMIM:617271	MAPKBP1	23005	HP:0003676	Progressive
OMIM:617271	MAPKBP1	23005	HP:0003828	Variable expressivity
OMIM:615983	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615983	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS5	129880	HP:0000007	Autosomal recessive inheritance
OMIM:615983	BBS5	129880	HP:0007754	Macular dystrophy
OMIM:615983	BBS5	129880	HP:0001513	Obesity
OMIM:615983	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615983	BBS5	129880	HP:0001156	Brachydactyly
OMIM:615983	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615983	BBS5	129880	HP:0001159	Syndactyly
ORPHA:90796	CYP17A1	1586	HP:0008734	Decreased testicular size
ORPHA:90796	CYP17A1	1586	HP:0000054	Micropenis
ORPHA:90796	CYP17A1	1586	HP:0012041	Decreased fertility in males
ORPHA:90796	CYP17A1	1586	HP:0008193	Primary gonadal insufficiency
ORPHA:90796	CYP17A1	1586	HP:0012113	Abnormality of creatine metabolism
ORPHA:90796	CYP17A1	1586	HP:0040171	Decreased serum testosterone level
ORPHA:90796	CYP17A1	1586	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:90796	CYP17A1	1586	HP:0000028	Cryptorchidism
ORPHA:90796	CYP17A1	1586	HP:0000786	Primary amenorrhea
ORPHA:90796	CYP17A1	1586	HP:0000939	Osteoporosis
ORPHA:90796	CYP17A1	1586	HP:0000823	Delayed puberty
ORPHA:90796	CYP17A1	1586	HP:0008675	Enlarged polycystic ovaries
ORPHA:90796	CYP17A1	1586	HP:0000047	Hypospadias
ORPHA:90796	CYP17A1	1586	HP:0004322	Short stature
ORPHA:90796	CYP17A1	1586	HP:0000868	Decreased fertility in females
ORPHA:90796	CYP17A1	1586	HP:0002750	Delayed skeletal maturation
ORPHA:90796	CYP17A1	1586	HP:0000013	Hypoplasia of the uterus
ORPHA:90796	CYP17A1	1586	HP:0002225	Sparse pubic hair
ORPHA:90796	CYP17A1	1586	HP:0002215	Sparse axillary hair
ORPHA:90796	CYP17A1	1586	HP:0002231	Sparse body hair
ORPHA:90796	CYP17A1	1586	HP:0008214	Decreased serum estradiol
ORPHA:90796	CYP17A1	1586	HP:0100607	Dysmenorrhea
ORPHA:90796	CYP17A1	1586	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:90796	CYP17A1	1586	HP:0008726	Hypoplasia of the vagina
ORPHA:90796	CYP17A1	1586	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:90796	CYP17A1	1586	HP:0008187	Absence of secondary sex characteristics
ORPHA:90796	CYB5A	1528	HP:0008734	Decreased testicular size
ORPHA:90796	CYB5A	1528	HP:0000054	Micropenis
ORPHA:90796	CYB5A	1528	HP:0012041	Decreased fertility in males
ORPHA:90796	CYB5A	1528	HP:0008193	Primary gonadal insufficiency
ORPHA:90796	CYB5A	1528	HP:0012113	Abnormality of creatine metabolism
ORPHA:90796	CYB5A	1528	HP:0040171	Decreased serum testosterone level
ORPHA:90796	CYB5A	1528	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:90796	CYB5A	1528	HP:0000028	Cryptorchidism
ORPHA:90796	CYB5A	1528	HP:0000786	Primary amenorrhea
ORPHA:90796	CYB5A	1528	HP:0000939	Osteoporosis
ORPHA:90796	CYB5A	1528	HP:0000823	Delayed puberty
ORPHA:90796	CYB5A	1528	HP:0008675	Enlarged polycystic ovaries
ORPHA:90796	CYB5A	1528	HP:0000047	Hypospadias
ORPHA:90796	CYB5A	1528	HP:0004322	Short stature
ORPHA:90796	CYB5A	1528	HP:0000868	Decreased fertility in females
ORPHA:90796	CYB5A	1528	HP:0002750	Delayed skeletal maturation
ORPHA:90796	CYB5A	1528	HP:0000013	Hypoplasia of the uterus
ORPHA:90796	CYB5A	1528	HP:0002225	Sparse pubic hair
ORPHA:90796	CYB5A	1528	HP:0002215	Sparse axillary hair
ORPHA:90796	CYB5A	1528	HP:0002231	Sparse body hair
ORPHA:90796	CYB5A	1528	HP:0008214	Decreased serum estradiol
ORPHA:90796	CYB5A	1528	HP:0100607	Dysmenorrhea
ORPHA:90796	CYB5A	1528	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:90796	CYB5A	1528	HP:0008726	Hypoplasia of the vagina
ORPHA:90796	CYB5A	1528	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:90796	CYB5A	1528	HP:0008187	Absence of secondary sex characteristics
OMIM:613079	LOXHD1	125336	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:613079	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:312080	PLP1	5354	HP:0000648	Optic atrophy
OMIM:312080	PLP1	5354	HP:0001419	X-linked recessive inheritance
OMIM:312080	PLP1	5354	HP:0000252	Microcephaly
OMIM:312080	PLP1	5354	HP:0003677	Slow progression
OMIM:312080	PLP1	5354	HP:0001332	Dystonia
OMIM:312080	PLP1	5354	HP:0002478	Progressive spastic quadriplegia
OMIM:312080	PLP1	5354	HP:0001266	Choreoathetosis
OMIM:312080	PLP1	5354	HP:0007256	Abnormal pyramidal signs
OMIM:312080	PLP1	5354	HP:0100709	Reduction of oligodendroglia
OMIM:312080	PLP1	5354	HP:0001263	Global developmental delay
OMIM:312080	PLP1	5354	HP:0002168	Scanning speech
OMIM:312080	PLP1	5354	HP:0004322	Short stature
OMIM:312080	PLP1	5354	HP:0002361	Psychomotor deterioration
OMIM:312080	PLP1	5354	HP:0001251	Ataxia
OMIM:312080	PLP1	5354	HP:0003269	Sudanophilic leukodystrophy
OMIM:312080	PLP1	5354	HP:0001337	Tremor
OMIM:312080	PLP1	5354	HP:0000639	Nystagmus
OMIM:312080	PLP1	5354	HP:0001260	Dysarthria
OMIM:312080	PLP1	5354	HP:0001583	Rotary nystagmus
OMIM:312080	PLP1	5354	HP:0002015	Dysphagia
OMIM:312080	PLP1	5354	HP:0007266	Cerebral dysmyelination
OMIM:312080	PLP1	5354	HP:0001252	Muscular hypotonia
OMIM:312080	PLP1	5354	HP:0001249	Intellectual disability
OMIM:312080	PLP1	5354	HP:0001508	Failure to thrive
OMIM:312080	PLP1	5354	HP:0000750	Delayed speech and language development
OMIM:312080	PLP1	5354	HP:0001290	Generalized hypotonia
OMIM:312080	PLP1	5354	HP:0003593	Infantile onset
OMIM:312080	PLP1	5354	HP:0002599	Head titubation
OMIM:607594	ICOS	29851	HP:0002720	IgA deficiency
OMIM:607594	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:607594	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:607594	ICOS	29851	HP:0002837	Recurrent bronchitis
OMIM:607594	ICOS	29851	HP:0006532	Recurrent pneumonia
OMIM:607594	ICOS	29851	HP:0002716	Lymphadenopathy
OMIM:607594	ICOS	29851	HP:0002850	IgM deficiency
OMIM:607594	ICOS	29851	HP:0001744	Splenomegaly
OMIM:607594	ICOS	29851	HP:0010976	B lymphocytopenia
OMIM:607594	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:607594	ICOS	29851	HP:0002110	Bronchiectasis
OMIM:607594	ICOS	29851	HP:0002240	Hepatomegaly
OMIM:607594	ICOS	29851	HP:0002014	Diarrhea
OMIM:607594	ICOS	29851	HP:0005435	Impaired T cell function
OMIM:607594	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:607594	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:607594	ICOS	29851	HP:0004315	IgG deficiency
OMIM:607594	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:224100	SEC23B	10483	HP:0000952	Jaundice
OMIM:224100	SEC23B	10483	HP:0003655	Reduced activity of N-acetylglucosaminyltransferase II
OMIM:224100	SEC23B	10483	HP:0010972	Anemia of inadequate production
OMIM:224100	SEC23B	10483	HP:0003352	Endopolyploidy on chromosome studies of bone marrow
OMIM:224100	SEC23B	10483	HP:0001744	Splenomegaly
OMIM:224100	SEC23B	10483	HP:0001081	Cholelithiasis
OMIM:224100	SEC23B	10483	HP:0001923	Reticulocytosis
OMIM:224100	SEC23B	10483	HP:0000007	Autosomal recessive inheritance
OMIM:612713	SRD5A3	79644	HP:0005306	Capillary hemangiomas
OMIM:612713	SRD5A3	79644	HP:0002987	Elbow flexion contracture
OMIM:612713	SRD5A3	79644	HP:0010864	Intellectual disability, severe
OMIM:612713	SRD5A3	79644	HP:0000431	Wide nasal bridge
OMIM:612713	SRD5A3	79644	HP:0000518	Cataract
OMIM:612713	SRD5A3	79644	HP:0006887	Intellectual disability, progressive
OMIM:612713	SRD5A3	79644	HP:0000414	Bulbous nose
OMIM:612713	SRD5A3	79644	HP:0000007	Autosomal recessive inheritance
OMIM:612713	SRD5A3	79644	HP:0000179	Thick lower lip vermilion
OMIM:612713	SRD5A3	79644	HP:0001270	Motor delay
OMIM:612713	SRD5A3	79644	HP:0000612	Iris coloboma
OMIM:612713	SRD5A3	79644	HP:0006380	Knee flexion contracture
OMIM:612713	SRD5A3	79644	HP:0002942	Thoracic kyphosis
OMIM:614886	PEX19	5824	HP:0002059	Cerebral atrophy
OMIM:614886	PEX19	5824	HP:0001081	Cholelithiasis
OMIM:614886	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614886	PEX19	5824	HP:0000629	Periorbital fullness
OMIM:614886	PEX19	5824	HP:0003455	Elevated long chain fatty acids
OMIM:614886	PEX19	5824	HP:0000431	Wide nasal bridge
OMIM:614886	PEX19	5824	HP:0001631	Atrial septal defect
OMIM:614886	PEX19	5824	HP:0000267	Cranial asymmetry
OMIM:614886	PEX19	5824	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX19	5824	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX19	5824	HP:0001719	Double outlet right ventricle
OMIM:614886	PEX19	5824	HP:0004322	Short stature
OMIM:614886	PEX19	5824	HP:0004325	Decreased body weight
OMIM:614886	PEX19	5824	HP:0000448	Prominent nose
OMIM:614886	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614886	PEX19	5824	HP:0000286	Epicanthus
OMIM:614886	PEX19	5824	HP:0000252	Microcephaly
OMIM:614886	PEX19	5824	HP:0001250	Seizures
OMIM:614886	PEX19	5824	HP:0007305	CNS demyelination
OMIM:614886	PEX19	5824	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:614886	PEX19	5824	HP:0011398	Central hypotonia
OMIM:614886	PEX19	5824	HP:0000260	Wide anterior fontanel
OMIM:614886	PEX19	5824	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX19	5824	HP:0001643	Patent ductus arteriosus
OMIM:614886	PEX19	5824	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX19	5824	HP:0001558	Decreased fetal movement
OMIM:614886	PEX19	5824	HP:0030799	Scaphocephaly
OMIM:614886	PEX19	5824	HP:0001290	Generalized hypotonia
OMIM:614886	PEX19	5824	HP:0000124	Renal tubular dysfunction
OMIM:614886	PEX19	5824	HP:0001399	Hepatic failure
OMIM:614886	PEX19	5824	HP:0000238	Hydrocephalus
OMIM:614886	PEX19	5824	HP:0000325	Triangular face
OMIM:614886	PEX19	5824	HP:0010461	Abnormality of the male genitalia
ORPHA:2901	SEPT9	10801	HP:0003457	EMG abnormality
ORPHA:2901	SEPT9	10801	HP:0002829	Arthralgia
ORPHA:2901	SEPT9	10801	HP:0003401	Paresthesia
ORPHA:2901	SEPT9	10801	HP:0003691	Scapular winging
ORPHA:2901	SEPT9	10801	HP:0001324	Muscle weakness
ORPHA:2901	SEPT9	10801	HP:0000912	Sprengel anomaly
ORPHA:2901	SEPT9	10801	HP:0001271	Polyneuropathy
OMIM:613000	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:613000	KRT16	3868	HP:0000982	Palmoplantar keratoderma
OMIM:604352	ADGRV1	84059	HP:0003593	Infantile onset
OMIM:604352	ADGRV1	84059	HP:0010819	Atonic seizures
OMIM:604352	ADGRV1	84059	HP:0000006	Autosomal dominant inheritance
OMIM:604352	ADGRV1	84059	HP:0011463	Childhood onset
OMIM:604352	ADGRV1	84059	HP:0001425	Heterogeneous
OMIM:604352	ADGRV1	84059	HP:0002069	Generalized tonic-clonic seizures
OMIM:604352	ADGRV1	84059	HP:0010818	Generalized tonic seizures
OMIM:604352	ADGRV1	84059	HP:0002373	Febrile seizures
OMIM:608118	SLC30A2	7780	HP:0008277	Abnormality of zinc homeostasis
OMIM:608118	SLC30A2	7780	HP:0002242	Abnormality of the intestine
OMIM:608118	SLC30A2	7780	HP:0000007	Autosomal recessive inheritance
OMIM:608118	SLC30A2	7780	HP:0000964	Eczema
OMIM:608118	SLC30A2	7780	HP:0000006	Autosomal dominant inheritance
OMIM:604931	H6PD	9563	HP:0000789	Infertility
OMIM:604931	H6PD	9563	HP:0001007	Hirsutism
OMIM:604931	H6PD	9563	HP:0000007	Autosomal recessive inheritance
OMIM:604931	H6PD	9563	HP:0001061	Acne
OMIM:604931	H6PD	9563	HP:0000876	Oligomenorrhea
OMIM:604931	H6PD	9563	HP:0001513	Obesity
OMIM:609528	SNAP29	9342	HP:0000253	Progressive microcephaly
OMIM:609528	SNAP29	9342	HP:0008064	Ichthyosis
OMIM:609528	SNAP29	9342	HP:0000982	Palmoplantar keratoderma
OMIM:609528	SNAP29	9342	HP:0000407	Sensorineural hearing impairment
OMIM:609528	SNAP29	9342	HP:0001284	Areflexia
OMIM:609528	SNAP29	9342	HP:0000316	Hypertelorism
OMIM:609528	SNAP29	9342	HP:0000276	Long face
OMIM:609528	SNAP29	9342	HP:0002126	Polymicrogyria
OMIM:609528	SNAP29	9342	HP:0005280	Depressed nasal bridge
OMIM:609528	SNAP29	9342	HP:0009830	Peripheral neuropathy
OMIM:609528	SNAP29	9342	HP:0001252	Muscular hypotonia
OMIM:609528	SNAP29	9342	HP:0001271	Polyneuropathy
OMIM:609528	SNAP29	9342	HP:0001508	Failure to thrive
OMIM:609528	SNAP29	9342	HP:0000494	Downslanted palpebral fissures
OMIM:609528	SNAP29	9342	HP:0001302	Pachygyria
OMIM:609528	SNAP29	9342	HP:0001263	Global developmental delay
OMIM:609528	SNAP29	9342	HP:0006887	Intellectual disability, progressive
OMIM:609528	SNAP29	9342	HP:0000431	Wide nasal bridge
OMIM:609528	SNAP29	9342	HP:0007766	Optic disc hypoplasia
OMIM:609528	SNAP29	9342	HP:0010864	Intellectual disability, severe
OMIM:609528	SNAP29	9342	HP:0000007	Autosomal recessive inheritance
OMIM:609528	SNAP29	9342	HP:0002421	Poor head control
OMIM:609528	SNAP29	9342	HP:0003593	Infantile onset
OMIM:609528	SNAP29	9342	HP:0001273	Abnormality of the corpus callosum
OMIM:609528	SNAP29	9342	HP:0002539	Cortical dysplasia
OMIM:615513	PIK3CD	5293	HP:0001744	Splenomegaly
OMIM:615513	PIK3CD	5293	HP:0000006	Autosomal dominant inheritance
OMIM:615513	PIK3CD	5293	HP:0005425	Recurrent sinopulmonary infections
OMIM:615513	PIK3CD	5293	HP:0410018	Recurrent ear infections
OMIM:615513	PIK3CD	5293	HP:0002716	Lymphadenopathy
OMIM:615513	PIK3CD	5293	HP:0002721	Immunodeficiency
OMIM:615513	PIK3CD	5293	HP:0100658	Cellulitis
OMIM:615513	PIK3CD	5293	HP:0002110	Bronchiectasis
OMIM:615513	PIK3CD	5293	HP:0004313	Decreased antibody level in blood
OMIM:615887	SLC24A4	123041	HP:0000705	Amelogenesis imperfecta
OMIM:615887	SLC24A4	123041	HP:0000670	Carious teeth
OMIM:615887	SLC24A4	123041	HP:0000007	Autosomal recessive inheritance
OMIM:158900	FRG1	2483	HP:0010628	Facial palsy
OMIM:158900	FRG1	2483	HP:0000006	Autosomal dominant inheritance
OMIM:158900	FRG1	2483	HP:0003724	Shoulder girdle muscle atrophy
OMIM:158900	FRG1	2483	HP:0001249	Intellectual disability
OMIM:158900	FRG1	2483	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:158900	FRG1	2483	HP:0000407	Sensorineural hearing impairment
OMIM:158900	FRG1	2483	HP:0001250	Seizures
OMIM:158900	FRG1	2483	HP:0008981	Calf muscle hypertrophy
OMIM:158900	FRG1	2483	HP:0012473	Tongue atrophy
OMIM:158900	FRG1	2483	HP:0008970	Scapulohumeral muscular dystrophy
OMIM:158900	FRG1	2483	HP:0003547	Shoulder girdle muscle weakness
OMIM:158900	FRG1	2483	HP:0003677	Slow progression
OMIM:158900	FRG1	2483	HP:0030664	Beevor's sign
OMIM:158900	FRG1	2483	HP:0003691	Scapular winging
OMIM:158900	FRG1	2483	HP:0012231	Exudative retinal detachment
OMIM:158900	FRG1	2483	HP:0007763	Retinal telangiectasia
OMIM:158900	FRG1	2483	HP:0009023	Abdominal wall muscle weakness
OMIM:158900	FRG1	2483	HP:0000544	External ophthalmoplegia
OMIM:158900	FRG1	2483	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158900	FRG1	2483	HP:0011463	Childhood onset
OMIM:617073	WNT10B	7480	HP:0000006	Autosomal dominant inheritance
OMIM:617073	WNT10B	7480	HP:0000691	Microdontia
ORPHA:228308	CPT2	1376	HP:0012639	Abnormality of nervous system morphology
ORPHA:228308	CPT2	1376	HP:0001250	Seizures
ORPHA:228308	CPT2	1376	HP:0001985	Hypoketotic hypoglycemia
ORPHA:228308	CPT2	1376	HP:0006559	Hepatic calcification
ORPHA:228308	CPT2	1376	HP:0002910	Elevated hepatic transaminases
ORPHA:228308	CPT2	1376	HP:0001399	Hepatic failure
ORPHA:228308	CPT2	1376	HP:0001252	Muscular hypotonia
ORPHA:228308	CPT2	1376	HP:0001638	Cardiomyopathy
ORPHA:228308	CPT2	1376	HP:0011675	Arrhythmia
ORPHA:228308	CPT2	1376	HP:0001259	Coma
ORPHA:228308	CPT2	1376	HP:0002240	Hepatomegaly
ORPHA:228308	CPT2	1376	HP:0002093	Respiratory insufficiency
ORPHA:228308	CPT2	1376	HP:0012378	Fatigue
ORPHA:228308	CPT2	1376	HP:0000003	Multicystic kidney dysplasia
ORPHA:228308	CPT2	1376	HP:0000083	Renal insufficiency
ORPHA:85414	IL6	3569	HP:0002829	Arthralgia
ORPHA:85414	IL6	3569	HP:0002716	Lymphadenopathy
ORPHA:85414	IL6	3569	HP:0000988	Skin rash
ORPHA:85414	IL6	3569	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85414	IL6	3569	HP:0001386	Joint swelling
ORPHA:85414	IL6	3569	HP:0011227	Elevated C-reactive protein level
ORPHA:85414	IL6	3569	HP:0001945	Fever
ORPHA:85414	IL6	3569	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85414	IL6	3569	HP:0002960	Autoimmunity
ORPHA:85414	HLA-DRB1	3123	HP:0002829	Arthralgia
ORPHA:85414	HLA-DRB1	3123	HP:0002716	Lymphadenopathy
ORPHA:85414	HLA-DRB1	3123	HP:0000988	Skin rash
ORPHA:85414	HLA-DRB1	3123	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85414	HLA-DRB1	3123	HP:0001386	Joint swelling
ORPHA:85414	HLA-DRB1	3123	HP:0011227	Elevated C-reactive protein level
ORPHA:85414	HLA-DRB1	3123	HP:0001945	Fever
ORPHA:85414	HLA-DRB1	3123	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85414	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHA:85414	LACC1	144811	HP:0002829	Arthralgia
ORPHA:85414	LACC1	144811	HP:0002716	Lymphadenopathy
ORPHA:85414	LACC1	144811	HP:0000988	Skin rash
ORPHA:85414	LACC1	144811	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85414	LACC1	144811	HP:0001386	Joint swelling
ORPHA:85414	LACC1	144811	HP:0011227	Elevated C-reactive protein level
ORPHA:85414	LACC1	144811	HP:0001945	Fever
ORPHA:85414	LACC1	144811	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85414	LACC1	144811	HP:0002960	Autoimmunity
ORPHA:85414	MIF	4282	HP:0002829	Arthralgia
ORPHA:85414	MIF	4282	HP:0002716	Lymphadenopathy
ORPHA:85414	MIF	4282	HP:0000988	Skin rash
ORPHA:85414	MIF	4282	HP:0005681	Juvenile rheumatoid arthritis
ORPHA:85414	MIF	4282	HP:0001386	Joint swelling
ORPHA:85414	MIF	4282	HP:0011227	Elevated C-reactive protein level
ORPHA:85414	MIF	4282	HP:0001945	Fever
ORPHA:85414	MIF	4282	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:85414	MIF	4282	HP:0002960	Autoimmunity
OMIM:615785	KRT13	3860	HP:0025092	Epidermal acanthosis
OMIM:615785	KRT13	3860	HP:0000006	Autosomal dominant inheritance
OMIM:615785	KRT13	3860	HP:0040009	Hyperparakeratosis
OMIM:617243	MAD2L2	10459	HP:0006254	Elevated alpha-fetoprotein
OMIM:617243	MAD2L2	10459	HP:0000007	Autosomal recessive inheritance
OMIM:617243	MAD2L2	10459	HP:0000252	Microcephaly
OMIM:617243	MAD2L2	10459	HP:0001873	Thrombocytopenia
OMIM:617243	MAD2L2	10459	HP:0005528	Bone marrow hypocellularity
OMIM:617243	MAD2L2	10459	HP:0001903	Anemia
OMIM:617243	MAD2L2	10459	HP:0004322	Short stature
OMIM:617243	MAD2L2	10459	HP:0001875	Neutropenia
ORPHA:239	DYM	54808	HP:0001263	Global developmental delay
ORPHA:239	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
ORPHA:239	DYM	54808	HP:0008897	Postnatal growth retardation
ORPHA:239	DYM	54808	HP:0000280	Coarse facial features
ORPHA:239	DYM	54808	HP:0002650	Scoliosis
ORPHA:239	DYM	54808	HP:0003416	Spinal canal stenosis
ORPHA:239	DYM	54808	HP:0005930	Abnormality of epiphysis morphology
ORPHA:239	DYM	54808	HP:0001249	Intellectual disability
ORPHA:239	DYM	54808	HP:0003307	Hyperlordosis
ORPHA:239	DYM	54808	HP:0000470	Short neck
ORPHA:239	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
ORPHA:239	DYM	54808	HP:0002857	Genu valgum
ORPHA:239	DYM	54808	HP:0000926	Platyspondyly
ORPHA:239	DYM	54808	HP:0002867	Abnormality of the ilium
ORPHA:239	DYM	54808	HP:0003019	Abnormality of the wrist
ORPHA:239	DYM	54808	HP:0002652	Skeletal dysplasia
ORPHA:239	DYM	54808	HP:0002167	Neurological speech impairment
ORPHA:239	DYM	54808	HP:0001387	Joint stiffness
ORPHA:239	DYM	54808	HP:0002808	Kyphosis
ORPHA:239	DYM	54808	HP:0002827	Hip dislocation
ORPHA:239	DYM	54808	HP:0002983	Micromelia
ORPHA:239	DYM	54808	HP:0000768	Pectus carinatum
ORPHA:239	DYM	54808	HP:0000340	Sloping forehead
ORPHA:239	DYM	54808	HP:0010306	Short thorax
ORPHA:239	DYM	54808	HP:0000944	Abnormality of the metaphysis
ORPHA:239	DYM	54808	HP:0000252	Microcephaly
ORPHA:352649	SLC18A2	6571	HP:0008936	Muscular hypotonia of the trunk
ORPHA:352649	SLC18A2	6571	HP:0012378	Fatigue
ORPHA:352649	SLC18A2	6571	HP:0000975	Hyperhidrosis
ORPHA:352649	SLC18A2	6571	HP:0001290	Generalized hypotonia
ORPHA:352649	SLC18A2	6571	HP:0001337	Tremor
ORPHA:352649	SLC18A2	6571	HP:0002310	Orofacial dyskinesia
ORPHA:352649	SLC18A2	6571	HP:0000338	Hypomimic face
ORPHA:352649	SLC18A2	6571	HP:0010553	Oculogyric crisis
ORPHA:352649	SLC18A2	6571	HP:0001611	Nasal speech
ORPHA:352649	SLC18A2	6571	HP:0002075	Dysdiadochokinesis
ORPHA:352649	SLC18A2	6571	HP:0001260	Dysarthria
ORPHA:352649	SLC18A2	6571	HP:0002362	Shuffling gait
ORPHA:352649	SLC18A2	6571	HP:0001263	Global developmental delay
ORPHA:352649	SLC18A2	6571	HP:0000496	Abnormality of eye movement
ORPHA:352649	SLC18A2	6571	HP:0000508	Ptosis
ORPHA:352649	SLC18A2	6571	HP:0005484	Postnatal microcephaly
ORPHA:352649	SLC18A2	6571	HP:0002597	Abnormality of the vasculature
ORPHA:352649	SLC18A2	6571	HP:0001300	Parkinsonism
ORPHA:352649	SLC18A2	6571	HP:0001760	Abnormality of the foot
ORPHA:352649	SLC18A2	6571	HP:0001285	Spastic tetraparesis
ORPHA:352649	SLC18A2	6571	HP:0010307	Stridor
ORPHA:352649	SLC18A2	6571	HP:0002360	Sleep disturbance
ORPHA:352649	SLC18A2	6571	HP:0030215	Inappropriate crying
ORPHA:352649	SLC18A2	6571	HP:0002451	Limb dystonia
ORPHA:352649	SLC18A2	6571	HP:0100543	Cognitive impairment
ORPHA:352649	SLC18A2	6571	HP:0002421	Poor head control
OMIM:217080	CNNM4	26504	HP:0000662	Nyctalopia
OMIM:217080	CNNM4	26504	HP:0000613	Photophobia
OMIM:217080	CNNM4	26504	HP:0000705	Amelogenesis imperfecta
OMIM:217080	CNNM4	26504	HP:0007803	Monochromacy
OMIM:217080	CNNM4	26504	HP:0000007	Autosomal recessive inheritance
OMIM:217080	CNNM4	26504	HP:0000670	Carious teeth
OMIM:217080	CNNM4	26504	HP:0000543	Optic disc pallor
OMIM:217080	CNNM4	26504	HP:0000639	Nystagmus
OMIM:217080	CNNM4	26504	HP:0000548	Cone/cone-rod dystrophy
ORPHA:2189	HYLS1	219844	HP:0001274	Agenesis of corpus callosum
ORPHA:2189	HYLS1	219844	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:2189	HYLS1	219844	HP:0000238	Hydrocephalus
ORPHA:2189	HYLS1	219844	HP:0000278	Retrognathia
ORPHA:2189	HYLS1	219844	HP:0000193	Bifid uvula
ORPHA:2189	HYLS1	219844	HP:0000490	Deeply set eye
ORPHA:2189	HYLS1	219844	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2189	HYLS1	219844	HP:0001162	Postaxial hand polydactyly
ORPHA:2189	HYLS1	219844	HP:0001601	Laryngomalacia
ORPHA:2189	HYLS1	219844	HP:0001622	Premature birth
ORPHA:2189	HYLS1	219844	HP:0100682	Tracheal atresia
ORPHA:2189	HYLS1	219844	HP:0000176	Submucous cleft hard palate
ORPHA:2189	HYLS1	219844	HP:0000347	Micrognathia
ORPHA:2189	HYLS1	219844	HP:0001331	Absent septum pellucidum
ORPHA:2189	HYLS1	219844	HP:0001561	Polyhydramnios
ORPHA:2189	HYLS1	219844	HP:0100333	Unilateral cleft lip
ORPHA:2189	HYLS1	219844	HP:0030690	Gingival cleft
ORPHA:2189	HYLS1	219844	HP:0004408	Abnormality of the sense of smell
ORPHA:2189	KIF7	374654	HP:0001274	Agenesis of corpus callosum
ORPHA:2189	KIF7	374654	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:2189	KIF7	374654	HP:0000238	Hydrocephalus
ORPHA:2189	KIF7	374654	HP:0000278	Retrognathia
ORPHA:2189	KIF7	374654	HP:0000193	Bifid uvula
ORPHA:2189	KIF7	374654	HP:0000490	Deeply set eye
ORPHA:2189	KIF7	374654	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2189	KIF7	374654	HP:0001162	Postaxial hand polydactyly
ORPHA:2189	KIF7	374654	HP:0001601	Laryngomalacia
ORPHA:2189	KIF7	374654	HP:0001622	Premature birth
ORPHA:2189	KIF7	374654	HP:0100682	Tracheal atresia
ORPHA:2189	KIF7	374654	HP:0000176	Submucous cleft hard palate
ORPHA:2189	KIF7	374654	HP:0000347	Micrognathia
ORPHA:2189	KIF7	374654	HP:0001331	Absent septum pellucidum
ORPHA:2189	KIF7	374654	HP:0001561	Polyhydramnios
ORPHA:2189	KIF7	374654	HP:0100333	Unilateral cleft lip
ORPHA:2189	KIF7	374654	HP:0030690	Gingival cleft
ORPHA:2189	KIF7	374654	HP:0004408	Abnormality of the sense of smell
ORPHA:251066	ANK1	286	HP:0000027	Azoospermia
ORPHA:251066	ANK1	286	HP:0001263	Global developmental delay
ORPHA:251066	ANK1	286	HP:0008736	Hypoplasia of penis
ORPHA:251066	ANK1	286	HP:0001249	Intellectual disability
ORPHA:251066	ANK1	286	HP:0000252	Microcephaly
ORPHA:251066	ANK1	286	HP:0008572	External ear malformation
ORPHA:251066	ANK1	286	HP:0000639	Nystagmus
ORPHA:251066	ANK1	286	HP:0004444	Spherocytosis
ORPHA:251066	ANK1	286	HP:0000218	High palate
ORPHA:251066	ANK1	286	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:251066	ANK1	286	HP:0004322	Short stature
ORPHA:251066	ANK1	286	HP:0000028	Cryptorchidism
ORPHA:251066	ANK1	286	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:251066	ANK1	286	HP:0000347	Micrognathia
ORPHA:251066	ANK1	286	HP:0001878	Hemolytic anemia
ORPHA:251066	ANK1	286	HP:0004467	Preauricular pit
OMIM:175200	STK11	6794	HP:0000771	Gynecomastia
OMIM:175200	STK11	6794	HP:0000069	Abnormality of the ureter
OMIM:175200	STK11	6794	HP:0000138	Ovarian cyst
OMIM:175200	STK11	6794	HP:0001080	Biliary tract abnormality
OMIM:175200	STK11	6794	HP:0001034	Hypermelanotic macule
OMIM:175200	STK11	6794	HP:0004390	Hamartomatous polyposis
OMIM:175200	STK11	6794	HP:0002584	Intestinal bleeding
OMIM:175200	STK11	6794	HP:0100759	Clubbing of fingers
OMIM:175200	STK11	6794	HP:0000006	Autosomal dominant inheritance
OMIM:175200	STK11	6794	HP:0000153	Abnormality of the mouth
OMIM:175200	STK11	6794	HP:0002894	Neoplasm of the pancreas
OMIM:175200	STK11	6794	HP:0001891	Iron deficiency anemia
OMIM:175200	STK11	6794	HP:0002035	Rectal prolapse
OMIM:175200	STK11	6794	HP:0002672	Gastrointestinal carcinoma
OMIM:175200	STK11	6794	HP:0002027	Abdominal pain
OMIM:175200	STK11	6794	HP:0003002	Breast carcinoma
OMIM:175200	STK11	6794	HP:0008204	Precocious puberty with Sertoli cell tumor
OMIM:175200	STK11	6794	HP:0002576	Intussusception
OMIM:175200	STK11	6794	HP:0100582	Nasal polyposis
ORPHA:84090	FN1	2335	HP:0002907	Microscopic hematuria
ORPHA:84090	FN1	2335	HP:0100820	Glomerulopathy
ORPHA:84090	FN1	2335	HP:0000093	Proteinuria
ORPHA:84090	FN1	2335	HP:0000100	Nephrotic syndrome
ORPHA:84090	FN1	2335	HP:0000822	Hypertension
ORPHA:84090	FN1	2335	HP:0001966	Mesangial abnormality
ORPHA:84090	FN1	2335	HP:0000083	Renal insufficiency
ORPHA:84090	FN1	2335	HP:0003073	Hypoalbuminemia
ORPHA:84090	FN1	2335	HP:0010741	Edema of the lower limbs
OMIM:133020	SCN9A	6335	HP:0040264	Jaw pain
OMIM:133020	SCN9A	6335	HP:0001097	Keratoconjunctivitis sicca
OMIM:133020	SCN9A	6335	HP:0003011	Abnormality of the musculature
OMIM:133020	SCN9A	6335	HP:0001962	Palpitations
OMIM:133020	SCN9A	6335	HP:0000622	Blurred vision
OMIM:133020	SCN9A	6335	HP:0003621	Juvenile onset
OMIM:133020	SCN9A	6335	HP:0000217	Xerostomia
OMIM:133020	SCN9A	6335	HP:0003326	Myalgia
OMIM:133020	SCN9A	6335	HP:0000975	Hyperhidrosis
OMIM:133020	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:133020	SCN9A	6335	HP:0002014	Diarrhea
OMIM:133020	SCN9A	6335	HP:0002019	Constipation
OMIM:615348	KLHL40	131377	HP:0001371	Flexion contracture
OMIM:615348	KLHL40	131377	HP:0000765	Abnormality of the thorax
OMIM:615348	KLHL40	131377	HP:0003715	Myofibrillar myopathy
OMIM:615348	KLHL40	131377	HP:0010628	Facial palsy
OMIM:615348	KLHL40	131377	HP:0001989	Fetal akinesia sequence
OMIM:615348	KLHL40	131377	HP:0002375	Hypokinesia
OMIM:615348	KLHL40	131377	HP:0002878	Respiratory failure
OMIM:615348	KLHL40	131377	HP:0002015	Dysphagia
OMIM:615348	KLHL40	131377	HP:0003798	Nemaline bodies
ORPHA:3459	HDAC8	55869	HP:0008551	Microtia
ORPHA:3459	HDAC8	55869	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:3459	HDAC8	55869	HP:0001263	Global developmental delay
ORPHA:3459	HDAC8	55869	HP:0001956	Truncal obesity
ORPHA:3459	HDAC8	55869	HP:0000336	Prominent supraorbital ridges
ORPHA:3459	HDAC8	55869	HP:0001763	Pes planus
ORPHA:3459	HDAC8	55869	HP:0004322	Short stature
ORPHA:3459	HDAC8	55869	HP:0000455	Broad nasal tip
ORPHA:3459	HDAC8	55869	HP:0200055	Small hand
ORPHA:3459	HDAC8	55869	HP:0010620	Malar prominence
ORPHA:3459	HDAC8	55869	HP:0002465	Poor speech
ORPHA:3459	HDAC8	55869	HP:0000712	Emotional lability
ORPHA:3459	HDAC8	55869	HP:0000347	Micrognathia
ORPHA:3459	HDAC8	55869	HP:0001761	Pes cavus
ORPHA:3459	HDAC8	55869	HP:0000490	Deeply set eye
ORPHA:3459	HDAC8	55869	HP:0000771	Gynecomastia
ORPHA:3459	HDAC8	55869	HP:0001999	Abnormal facial shape
ORPHA:3459	HDAC8	55869	HP:0000219	Thin upper lip vermilion
ORPHA:3459	HDAC8	55869	HP:0001773	Short foot
ORPHA:3459	HDAC8	55869	HP:0000028	Cryptorchidism
ORPHA:3459	HDAC8	55869	HP:0001249	Intellectual disability
ORPHA:3459	HDAC8	55869	HP:0001182	Tapered finger
ORPHA:3459	HDAC8	55869	HP:0000574	Thick eyebrow
ORPHA:3459	LAS1L	81887	HP:0008551	Microtia
ORPHA:3459	LAS1L	81887	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:3459	LAS1L	81887	HP:0001263	Global developmental delay
ORPHA:3459	LAS1L	81887	HP:0001956	Truncal obesity
ORPHA:3459	LAS1L	81887	HP:0000336	Prominent supraorbital ridges
ORPHA:3459	LAS1L	81887	HP:0001763	Pes planus
ORPHA:3459	LAS1L	81887	HP:0004322	Short stature
ORPHA:3459	LAS1L	81887	HP:0000455	Broad nasal tip
ORPHA:3459	LAS1L	81887	HP:0200055	Small hand
ORPHA:3459	LAS1L	81887	HP:0010620	Malar prominence
ORPHA:3459	LAS1L	81887	HP:0002465	Poor speech
ORPHA:3459	LAS1L	81887	HP:0000712	Emotional lability
ORPHA:3459	LAS1L	81887	HP:0000347	Micrognathia
ORPHA:3459	LAS1L	81887	HP:0001761	Pes cavus
ORPHA:3459	LAS1L	81887	HP:0000490	Deeply set eye
ORPHA:3459	LAS1L	81887	HP:0000771	Gynecomastia
ORPHA:3459	LAS1L	81887	HP:0001999	Abnormal facial shape
ORPHA:3459	LAS1L	81887	HP:0000219	Thin upper lip vermilion
ORPHA:3459	LAS1L	81887	HP:0001773	Short foot
ORPHA:3459	LAS1L	81887	HP:0000028	Cryptorchidism
ORPHA:3459	LAS1L	81887	HP:0001249	Intellectual disability
ORPHA:3459	LAS1L	81887	HP:0001182	Tapered finger
ORPHA:3459	LAS1L	81887	HP:0000574	Thick eyebrow
OMIM:238320	LHCGR	3973	HP:0000837	Increased circulating gonadotropin level
OMIM:238320	LHCGR	3973	HP:0000815	Hypergonadotropic hypogonadism
OMIM:238320	LHCGR	3973	HP:0000007	Autosomal recessive inheritance
ORPHA:228415	NSD1	64324	HP:0000545	Myopia
ORPHA:228415	NSD1	64324	HP:0001249	Intellectual disability
ORPHA:228415	NSD1	64324	HP:0004322	Short stature
ORPHA:228415	NSD1	64324	HP:0000708	Behavioral abnormality
ORPHA:228415	NSD1	64324	HP:0000252	Microcephaly
ORPHA:228415	NSD1	64324	HP:0001328	Specific learning disability
ORPHA:228415	NSD1	64324	HP:0002750	Delayed skeletal maturation
OMIM:300953	RNF113A	7737	HP:0000154	Wide mouth
OMIM:300953	RNF113A	7737	HP:0001423	X-linked dominant inheritance
OMIM:300953	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:300953	RNF113A	7737	HP:0000348	High forehead
OMIM:300953	RNF113A	7737	HP:0006313	Widely spaced primary teeth
OMIM:300953	RNF113A	7737	HP:0000303	Mandibular prognathia
OMIM:300953	RNF113A	7737	HP:0002719	Recurrent infections
OMIM:300953	RNF113A	7737	HP:0004322	Short stature
OMIM:300953	RNF113A	7737	HP:0001305	Dandy-Walker malformation
OMIM:300953	RNF113A	7737	HP:0001511	Intrauterine growth retardation
OMIM:300953	RNF113A	7737	HP:0000609	Optic nerve hypoplasia
OMIM:300953	RNF113A	7737	HP:0000965	Cutis marmorata
OMIM:300953	RNF113A	7737	HP:0000054	Micropenis
OMIM:300953	RNF113A	7737	HP:0000252	Microcephaly
OMIM:300953	RNF113A	7737	HP:0002187	Intellectual disability, profound
OMIM:300953	RNF113A	7737	HP:0000992	Cutaneous photosensitivity
OMIM:300953	RNF113A	7737	HP:0002283	Global brain atrophy
OMIM:300953	RNF113A	7737	HP:0004313	Decreased antibody level in blood
OMIM:300953	RNF113A	7737	HP:0002028	Chronic diarrhea
OMIM:300953	RNF113A	7737	HP:0000556	Retinal dystrophy
OMIM:300953	RNF113A	7737	HP:0001321	Cerebellar hypoplasia
OMIM:300953	RNF113A	7737	HP:0002299	Brittle hair
OMIM:300953	RNF113A	7737	HP:0000253	Progressive microcephaly
OMIM:300953	RNF113A	7737	HP:0002217	Slow-growing hair
OMIM:300953	RNF113A	7737	HP:0005328	Progeroid facial appearance
OMIM:300953	RNF113A	7737	HP:0008070	Sparse hair
OMIM:617114	KY	339855	HP:0003306	Spinal rigidity
OMIM:617114	KY	339855	HP:0000007	Autosomal recessive inheritance
OMIM:617114	KY	339855	HP:0003677	Slow progression
OMIM:617114	KY	339855	HP:0003307	Hyperlordosis
OMIM:617114	KY	339855	HP:0003202	Skeletal muscle atrophy
OMIM:617114	KY	339855	HP:0001771	Achilles tendon contracture
OMIM:617114	KY	339855	HP:0001265	Hyporeflexia
OMIM:617114	KY	339855	HP:0002808	Kyphosis
OMIM:617114	KY	339855	HP:0010628	Facial palsy
OMIM:617114	KY	339855	HP:0002987	Elbow flexion contracture
OMIM:617114	KY	339855	HP:0003236	Elevated serum creatine phosphokinase
OMIM:617114	KY	339855	HP:0002355	Difficulty walking
OMIM:617114	KY	339855	HP:0001762	Talipes equinovarus
OMIM:278000	LIPA	3988	HP:0001922	Vacuolated lymphocytes
OMIM:278000	LIPA	3988	HP:0002570	Steatorrhea
OMIM:278000	LIPA	3988	HP:0002013	Vomiting
OMIM:278000	LIPA	3988	HP:0002240	Hepatomegaly
OMIM:278000	LIPA	3988	HP:0001397	Hepatic steatosis
OMIM:278000	LIPA	3988	HP:0003124	Hypercholesterolemia
OMIM:278000	LIPA	3988	HP:0002014	Diarrhea
OMIM:278000	LIPA	3988	HP:0001508	Failure to thrive
OMIM:278000	LIPA	3988	HP:0001522	Death in infancy
OMIM:278000	LIPA	3988	HP:0001395	Hepatic fibrosis
OMIM:278000	LIPA	3988	HP:0004333	Bone-marrow foam cells
OMIM:278000	LIPA	3988	HP:0002040	Esophageal varix
OMIM:278000	LIPA	3988	HP:0000007	Autosomal recessive inheritance
OMIM:278000	LIPA	3988	HP:0010512	Adrenal calcification
OMIM:278000	LIPA	3988	HP:0001394	Cirrhosis
OMIM:278000	LIPA	3988	HP:0001744	Splenomegaly
OMIM:278000	LIPA	3988	HP:0002092	Pulmonary arterial hypertension
OMIM:278000	LIPA	3988	HP:0001433	Hepatosplenomegaly
OMIM:278000	LIPA	3988	HP:0001538	Protuberant abdomen
OMIM:278000	LIPA	3988	HP:0002155	Hypertriglyceridemia
ORPHA:250923	FOXC1	2296	HP:0000639	Nystagmus
ORPHA:250923	FOXC1	2296	HP:0000572	Visual loss
ORPHA:250923	FOXC1	2296	HP:0000659	Peters anomaly
ORPHA:250923	FOXC1	2296	HP:0000518	Cataract
ORPHA:250923	FOXC1	2296	HP:0000501	Glaucoma
ORPHA:250923	FOXC1	2296	HP:0000526	Aniridia
ORPHA:250923	FOXC1	2296	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:250923	PAX6	5080	HP:0000639	Nystagmus
ORPHA:250923	PAX6	5080	HP:0000572	Visual loss
ORPHA:250923	PAX6	5080	HP:0000659	Peters anomaly
ORPHA:250923	PAX6	5080	HP:0000518	Cataract
ORPHA:250923	PAX6	5080	HP:0000501	Glaucoma
ORPHA:250923	PAX6	5080	HP:0000526	Aniridia
ORPHA:250923	PAX6	5080	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:250923	TRIM44	54765	HP:0000639	Nystagmus
ORPHA:250923	TRIM44	54765	HP:0000572	Visual loss
ORPHA:250923	TRIM44	54765	HP:0000659	Peters anomaly
ORPHA:250923	TRIM44	54765	HP:0000518	Cataract
ORPHA:250923	TRIM44	54765	HP:0000501	Glaucoma
ORPHA:250923	TRIM44	54765	HP:0000526	Aniridia
ORPHA:250923	TRIM44	54765	HP:0008059	Aplasia/Hypoplasia of the macula
ORPHA:2241	MYH11	4629	HP:0001561	Polyhydramnios
ORPHA:2241	MYH11	4629	HP:0002017	Nausea and vomiting
ORPHA:2241	MYH11	4629	HP:0100771	Hypoperistalsis
ORPHA:2241	MYH11	4629	HP:0000003	Multicystic kidney dysplasia
ORPHA:2241	MYH11	4629	HP:0004388	Microcolon
ORPHA:2241	MYH11	4629	HP:0000021	Megacystis
ORPHA:2241	MYH11	4629	HP:0003270	Abdominal distention
ORPHA:2241	MYH11	4629	HP:0000072	Hydroureter
ORPHA:2241	MYH11	4629	HP:0002566	Intestinal malrotation
ORPHA:2241	ACTG2	72	HP:0001561	Polyhydramnios
ORPHA:2241	ACTG2	72	HP:0002017	Nausea and vomiting
ORPHA:2241	ACTG2	72	HP:0100771	Hypoperistalsis
ORPHA:2241	ACTG2	72	HP:0000003	Multicystic kidney dysplasia
ORPHA:2241	ACTG2	72	HP:0004388	Microcolon
ORPHA:2241	ACTG2	72	HP:0000021	Megacystis
ORPHA:2241	ACTG2	72	HP:0003270	Abdominal distention
ORPHA:2241	ACTG2	72	HP:0000072	Hydroureter
ORPHA:2241	ACTG2	72	HP:0002566	Intestinal malrotation
ORPHA:2241	LMOD1	25802	HP:0001561	Polyhydramnios
ORPHA:2241	LMOD1	25802	HP:0002017	Nausea and vomiting
ORPHA:2241	LMOD1	25802	HP:0100771	Hypoperistalsis
ORPHA:2241	LMOD1	25802	HP:0000003	Multicystic kidney dysplasia
ORPHA:2241	LMOD1	25802	HP:0004388	Microcolon
ORPHA:2241	LMOD1	25802	HP:0000021	Megacystis
ORPHA:2241	LMOD1	25802	HP:0003270	Abdominal distention
ORPHA:2241	LMOD1	25802	HP:0000072	Hydroureter
ORPHA:2241	LMOD1	25802	HP:0002566	Intestinal malrotation
OMIM:300966	TAF1	6872	HP:0008472	Prominent protruding coccyx
OMIM:300966	TAF1	6872	HP:0000437	Depressed nasal tip
OMIM:300966	TAF1	6872	HP:0001419	X-linked recessive inheritance
OMIM:300966	TAF1	6872	HP:0000414	Bulbous nose
OMIM:300966	TAF1	6872	HP:0000391	Thickened helices
OMIM:300966	TAF1	6872	HP:0000520	Proptosis
OMIM:300966	TAF1	6872	HP:0001263	Global developmental delay
OMIM:300966	TAF1	6872	HP:0000400	Macrotia
OMIM:300966	TAF1	6872	HP:0000411	Protruding ear
OMIM:300966	TAF1	6872	HP:0011822	Broad chin
OMIM:300966	TAF1	6872	HP:0000455	Broad nasal tip
OMIM:300966	TAF1	6872	HP:0003577	Congenital onset
OMIM:615546	FAT4	79633	HP:0011800	Midface retrusion
OMIM:615546	FAT4	79633	HP:0000431	Wide nasal bridge
OMIM:615546	FAT4	79633	HP:0010554	Cutaneous finger syndactyly
OMIM:615546	FAT4	79633	HP:0001290	Generalized hypotonia
OMIM:615546	FAT4	79633	HP:0030084	Clinodactyly
OMIM:615546	FAT4	79633	HP:0000689	Dental malocclusion
OMIM:615546	FAT4	79633	HP:0000048	Bifid scrotum
OMIM:615546	FAT4	79633	HP:0000272	Malar flattening
OMIM:615546	FAT4	79633	HP:0010804	Tented upper lip vermilion
OMIM:615546	FAT4	79633	HP:0040079	Irregular dentition
OMIM:615546	FAT4	79633	HP:0001249	Intellectual disability
OMIM:615546	FAT4	79633	HP:0001510	Growth delay
OMIM:615546	FAT4	79633	HP:0000089	Renal hypoplasia
OMIM:615546	FAT4	79633	HP:0002652	Skeletal dysplasia
OMIM:615546	FAT4	79633	HP:0008551	Microtia
OMIM:615546	FAT4	79633	HP:0000508	Ptosis
OMIM:615546	FAT4	79633	HP:0000894	Short clavicles
OMIM:615546	FAT4	79633	HP:0000327	Hypoplasia of the maxilla
OMIM:615546	FAT4	79633	HP:0000413	Atresia of the external auditory canal
OMIM:615546	FAT4	79633	HP:0002714	Downturned corners of mouth
OMIM:615546	FAT4	79633	HP:0000960	Sacral dimple
OMIM:615546	FAT4	79633	HP:0002779	Tracheomalacia
OMIM:615546	FAT4	79633	HP:0000347	Micrognathia
OMIM:615546	FAT4	79633	HP:0004689	Short fourth metatarsal
OMIM:615546	FAT4	79633	HP:0010044	Short 4th metacarpal
OMIM:615546	FAT4	79633	HP:0000774	Narrow chest
OMIM:615546	FAT4	79633	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615546	FAT4	79633	HP:0000028	Cryptorchidism
OMIM:615546	FAT4	79633	HP:0000260	Wide anterior fontanel
OMIM:615546	FAT4	79633	HP:0000316	Hypertelorism
OMIM:615546	FAT4	79633	HP:0000407	Sensorineural hearing impairment
OMIM:615546	FAT4	79633	HP:0011968	Feeding difficulties
OMIM:615546	FAT4	79633	HP:0000938	Osteopenia
OMIM:615546	FAT4	79633	HP:0000047	Hypospadias
OMIM:615546	FAT4	79633	HP:0000054	Micropenis
OMIM:615546	FAT4	79633	HP:0003577	Congenital onset
OMIM:615546	FAT4	79633	HP:0001388	Joint laxity
OMIM:615546	FAT4	79633	HP:0000218	High palate
OMIM:615546	FAT4	79633	HP:0000581	Blepharophimosis
OMIM:615546	FAT4	79633	HP:0010537	Wide cranial sutures
OMIM:615546	FAT4	79633	HP:0000341	Narrow forehead
OMIM:615546	FAT4	79633	HP:0001762	Talipes equinovarus
OMIM:615546	FAT4	79633	HP:0000286	Epicanthus
OMIM:615546	FAT4	79633	HP:0012745	Short palpebral fissure
OMIM:615546	FAT4	79633	HP:0000405	Conductive hearing impairment
OMIM:615546	FAT4	79633	HP:0000007	Autosomal recessive inheritance
OMIM:615546	FAT4	79633	HP:0002650	Scoliosis
OMIM:257980	WNT10A	80326	HP:0010783	Erythema
OMIM:257980	WNT10A	80326	HP:0011359	Dry hair
OMIM:257980	WNT10A	80326	HP:0001798	Anonychia
OMIM:257980	WNT10A	80326	HP:0008070	Sparse hair
OMIM:257980	WNT10A	80326	HP:0008391	Dystrophic fingernails
OMIM:257980	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:257980	WNT10A	80326	HP:0002164	Nail dysplasia
OMIM:257980	WNT10A	80326	HP:0002213	Fine hair
OMIM:257980	WNT10A	80326	HP:0000668	Hypodontia
OMIM:257980	WNT10A	80326	HP:0010298	Smooth tongue
OMIM:257980	WNT10A	80326	HP:0007410	Palmoplantar hyperhidrosis
OMIM:257980	WNT10A	80326	HP:0025092	Epidermal acanthosis
OMIM:116700	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:116700	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:116700	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:232400	AGL	178	HP:0002910	Elevated hepatic transaminases
OMIM:232400	AGL	178	HP:0005280	Depressed nasal bridge
OMIM:232400	AGL	178	HP:0004322	Short stature
OMIM:232400	AGL	178	HP:0000219	Thin upper lip vermilion
OMIM:232400	AGL	178	HP:0001638	Cardiomyopathy
OMIM:232400	AGL	178	HP:0003693	Distal amyotrophy
OMIM:232400	AGL	178	HP:0000490	Deeply set eye
OMIM:232400	AGL	178	HP:0001714	Ventricular hypertrophy
OMIM:232400	AGL	178	HP:0002240	Hepatomegaly
OMIM:232400	AGL	178	HP:0001324	Muscle weakness
OMIM:232400	AGL	178	HP:0000272	Malar flattening
OMIM:232400	AGL	178	HP:0003198	Myopathy
OMIM:232400	AGL	178	HP:0001395	Hepatic fibrosis
OMIM:232400	AGL	178	HP:0003077	Hyperlipidemia
OMIM:232400	AGL	178	HP:0000007	Autosomal recessive inheritance
OMIM:232400	AGL	178	HP:0001943	Hypoglycemia
OMIM:232400	AGL	178	HP:0003236	Elevated serum creatine phosphokinase
OMIM:232400	AGL	178	HP:0011800	Midface retrusion
OMIM:232400	AGL	178	HP:0000455	Broad nasal tip
OMIM:226900	SLC26A2	1836	HP:0006376	Limited elbow flexion
OMIM:226900	SLC26A2	1836	HP:0003370	Flat capital femoral epiphysis
OMIM:226900	SLC26A2	1836	HP:0002650	Scoliosis
OMIM:226900	SLC26A2	1836	HP:0002829	Arthralgia
OMIM:226900	SLC26A2	1836	HP:0004322	Short stature
OMIM:226900	SLC26A2	1836	HP:0001156	Brachydactyly
OMIM:226900	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:226900	SLC26A2	1836	HP:0008802	Hypoplasia of the femoral head
OMIM:226900	SLC26A2	1836	HP:0010049	Short metacarpal
OMIM:226900	SLC26A2	1836	HP:0002654	Multiple epiphyseal dysplasia
OMIM:226900	SLC26A2	1836	HP:0002656	Epiphyseal dysplasia
OMIM:226900	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:226900	SLC26A2	1836	HP:0001385	Hip dysplasia
ORPHA:401945	GUCY1A3	2982	HP:0000822	Hypertension
ORPHA:401945	GUCY1A3	2982	HP:0011834	Moyamoya phenomenon
ORPHA:401945	GUCY1A3	2982	HP:0001297	Stroke
OMIM:225320	COL1A2	1278	HP:0001075	Atrophic scars
OMIM:225320	COL1A2	1278	HP:0001848	Calcaneovalgus deformity
OMIM:225320	COL1A2	1278	HP:0000978	Bruising susceptibility
OMIM:225320	COL1A2	1278	HP:0001659	Aortic regurgitation
OMIM:225320	COL1A2	1278	HP:0000767	Pectus excavatum
OMIM:225320	COL1A2	1278	HP:0000974	Hyperextensible skin
OMIM:225320	COL1A2	1278	HP:0002816	Genu recurvatum
OMIM:225320	COL1A2	1278	HP:0000963	Thin skin
OMIM:225320	COL1A2	1278	HP:0001653	Mitral regurgitation
OMIM:225320	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:225320	COL1A2	1278	HP:0000023	Inguinal hernia
OMIM:225320	COL1A2	1278	HP:0001634	Mitral valve prolapse
OMIM:225320	COL1A2	1278	HP:0001388	Joint laxity
OMIM:225320	COL1A2	1278	HP:0001763	Pes planus
OMIM:225320	COL1A2	1278	HP:0000977	Soft skin
OMIM:274900	DUOXA2	405753	HP:0000821	Hypothyroidism
OMIM:274900	DUOXA2	405753	HP:0000853	Goiter
OMIM:274900	DUOXA2	405753	HP:0001510	Growth delay
OMIM:274900	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274900	DUOXA2	405753	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	DUOXA2	405753	HP:0001249	Intellectual disability
OMIM:605809	CHRNE	1145	HP:0001612	Weak cry
OMIM:605809	CHRNE	1145	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
OMIM:605809	CHRNE	1145	HP:0003388	Easy fatigability
OMIM:605809	CHRNE	1145	HP:0002098	Respiratory distress
OMIM:605809	CHRNE	1145	HP:0001290	Generalized hypotonia
OMIM:605809	CHRNE	1145	HP:0002015	Dysphagia
OMIM:605809	CHRNE	1145	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction
OMIM:605809	CHRNE	1145	HP:0003402	Decreased miniature endplate potentials
OMIM:605809	CHRNE	1145	HP:0003554	Type 2 muscle fiber atrophy
OMIM:605809	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:605809	CHRNE	1145	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:605809	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	CHRNE	1145	HP:0003577	Congenital onset
OMIM:605809	CHRNE	1145	HP:0000486	Strabismus
OMIM:605809	CHRNE	1145	HP:0000006	Autosomal dominant inheritance
OMIM:605809	CHRNE	1145	HP:0002882	Sudden episodic apnea
OMIM:605809	CHRNE	1145	HP:0003690	Limb muscle weakness
OMIM:605809	CHRNE	1145	HP:0008872	Feeding difficulties in infancy
OMIM:605809	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:605809	CHRNE	1145	HP:0000508	Ptosis
OMIM:605809	CHRNE	1145	HP:0002033	Poor suck
OMIM:605809	CHRNE	1145	HP:0001283	Bulbar palsy
OMIM:605809	CHRNE	1145	HP:0003473	Fatigable weakness
OMIM:236270	MTRR	4552	HP:0001889	Megaloblastic anemia
OMIM:236270	MTRR	4552	HP:0001250	Seizures
OMIM:236270	MTRR	4552	HP:0001254	Lethargy
OMIM:236270	MTRR	4552	HP:0002160	Hyperhomocystinemia
OMIM:236270	MTRR	4552	HP:0003223	Decreased methylcobalamin
OMIM:236270	MTRR	4552	HP:0003524	Decreased methionine synthase activity
OMIM:236270	MTRR	4552	HP:0001290	Generalized hypotonia
OMIM:236270	MTRR	4552	HP:0003658	Hypomethioninemia
OMIM:236270	MTRR	4552	HP:0002059	Cerebral atrophy
OMIM:236270	MTRR	4552	HP:0001288	Gait disturbance
OMIM:236270	MTRR	4552	HP:0001508	Failure to thrive
OMIM:236270	MTRR	4552	HP:0003593	Infantile onset
OMIM:236270	MTRR	4552	HP:0000007	Autosomal recessive inheritance
OMIM:236270	MTRR	4552	HP:0001263	Global developmental delay
OMIM:236270	MTRR	4552	HP:0002156	Homocystinuria
OMIM:236270	MTRR	4552	HP:0006887	Intellectual disability, progressive
OMIM:602111	MMP13	4322	HP:0003031	Ulnar bowing
OMIM:602111	MMP13	4322	HP:0003015	Flared metaphysis
OMIM:602111	MMP13	4322	HP:0003021	Metaphyseal cupping
OMIM:602111	MMP13	4322	HP:0008905	Rhizomelia
OMIM:602111	MMP13	4322	HP:0002986	Radial bowing
OMIM:602111	MMP13	4322	HP:0004566	Pear-shaped vertebrae
OMIM:602111	MMP13	4322	HP:0003071	Flattened epiphysis
OMIM:602111	MMP13	4322	HP:0002982	Tibial bowing
OMIM:602111	MMP13	4322	HP:0010585	Small epiphyses
OMIM:602111	MMP13	4322	HP:0008476	Irregular sclerotic endplates
OMIM:602111	MMP13	4322	HP:0002750	Delayed skeletal maturation
OMIM:602111	MMP13	4322	HP:0006603	Flared, irregular rib ends
OMIM:602111	MMP13	4322	HP:0002980	Femoral bowing
OMIM:602111	MMP13	4322	HP:0002812	Coxa vara
OMIM:602111	MMP13	4322	HP:0002970	Genu varum
OMIM:602111	MMP13	4322	HP:0000006	Autosomal dominant inheritance
OMIM:602111	MMP13	4322	HP:0002758	Osteoarthritis
OMIM:602111	MMP13	4322	HP:0002869	Flared iliac wings
OMIM:602111	MMP13	4322	HP:0000926	Platyspondyly
OMIM:602111	MMP13	4322	HP:0001377	Limited elbow extension
OMIM:602111	MMP13	4322	HP:0002515	Waddling gait
OMIM:602111	MMP13	4322	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:614962	LEP	3952	HP:0001513	Obesity
OMIM:614962	LEP	3952	HP:0410018	Recurrent ear infections
OMIM:614962	LEP	3952	HP:0000007	Autosomal recessive inheritance
OMIM:614962	LEP	3952	HP:0000135	Hypogonadism
OMIM:614962	LEP	3952	HP:0002591	Polyphagia
OMIM:614962	LEP	3952	HP:0006532	Recurrent pneumonia
OMIM:614962	LEP	3952	HP:0008734	Decreased testicular size
OMIM:614962	LEP	3952	HP:0003292	Decreased serum leptin
OMIM:614962	LEP	3952	HP:0000786	Primary amenorrhea
OMIM:614962	LEP	3952	HP:0000771	Gynecomastia
OMIM:614962	LEP	3952	HP:0002788	Recurrent upper respiratory tract infections
OMIM:614962	LEP	3952	HP:0000054	Micropenis
OMIM:617099	OTULIN	90268	HP:0001386	Joint swelling
OMIM:617099	OTULIN	90268	HP:0009125	Lipodystrophy
OMIM:617099	OTULIN	90268	HP:0011897	Neutrophilia
OMIM:617099	OTULIN	90268	HP:0000007	Autosomal recessive inheritance
OMIM:617099	OTULIN	90268	HP:0001508	Failure to thrive
OMIM:617099	OTULIN	90268	HP:0001974	Leukocytosis
OMIM:617099	OTULIN	90268	HP:0002829	Arthralgia
OMIM:617099	OTULIN	90268	HP:0002716	Lymphadenopathy
OMIM:617099	OTULIN	90268	HP:0003326	Myalgia
OMIM:616910	CDCA7	83879	HP:0000047	Hypospadias
OMIM:616910	CDCA7	83879	HP:0001263	Global developmental delay
OMIM:616910	CDCA7	83879	HP:0003175	Hypoplastic ischia
OMIM:616910	CDCA7	83879	HP:0000405	Conductive hearing impairment
OMIM:616910	CDCA7	83879	HP:0003196	Short nose
OMIM:616910	CDCA7	83879	HP:0000486	Strabismus
OMIM:616910	CDCA7	83879	HP:0000007	Autosomal recessive inheritance
OMIM:616910	CDCA7	83879	HP:0000028	Cryptorchidism
OMIM:616910	CDCA7	83879	HP:0000369	Low-set ears
OMIM:616910	CDCA7	83879	HP:0010442	Polydactyly
OMIM:616910	CDCA7	83879	HP:0004313	Decreased antibody level in blood
OMIM:616910	CDCA7	83879	HP:0001511	Intrauterine growth retardation
OMIM:616910	CDCA7	83879	HP:0000252	Microcephaly
OMIM:616910	CDCA7	83879	HP:0000316	Hypertelorism
OMIM:616910	CDCA7	83879	HP:0012368	Flat face
OMIM:266130	GSS	2937	HP:0000580	Pigmentary retinopathy
OMIM:266130	GSS	2937	HP:0001875	Neutropenia
OMIM:266130	GSS	2937	HP:0001260	Dysarthria
OMIM:266130	GSS	2937	HP:0001996	Chronic metabolic acidosis
OMIM:266130	GSS	2937	HP:0001250	Seizures
OMIM:266130	GSS	2937	HP:0001249	Intellectual disability
OMIM:266130	GSS	2937	HP:0001285	Spastic tetraparesis
OMIM:266130	GSS	2937	HP:0001878	Hemolytic anemia
OMIM:266130	GSS	2937	HP:0001251	Ataxia
OMIM:266130	GSS	2937	HP:0002080	Intention tremor
OMIM:266130	GSS	2937	HP:0001345	Psychotic mentation
OMIM:266130	GSS	2937	HP:0003343	Glutathione synthetase deficiency
OMIM:266130	GSS	2937	HP:0000007	Autosomal recessive inheritance
OMIM:614878	PLCG2	5336	HP:0000006	Autosomal dominant inheritance
OMIM:614878	PLCG2	5336	HP:0002720	IgA deficiency
OMIM:614878	PLCG2	5336	HP:0100658	Cellulitis
OMIM:614878	PLCG2	5336	HP:0002719	Recurrent infections
OMIM:614878	PLCG2	5336	HP:0010783	Erythema
OMIM:614878	PLCG2	5336	HP:0003593	Infantile onset
OMIM:614878	PLCG2	5336	HP:0002829	Arthralgia
OMIM:614878	PLCG2	5336	HP:0002850	IgM deficiency
OMIM:614878	PLCG2	5336	HP:0002958	Immune dysregulation
OMIM:614878	PLCG2	5336	HP:0006515	Interstitial pneumonitis
OMIM:614878	PLCG2	5336	HP:0011950	Bronchiolitis
OMIM:613488	DDIT3	1649	HP:0012268	Myxoid liposarcoma
OMIM:613488	DDIT3	1649	HP:0001428	Somatic mutation
OMIM:121300	CPOX	1371	HP:0000716	Depressivity
OMIM:121300	CPOX	1371	HP:0011999	Paranoia
OMIM:121300	CPOX	1371	HP:0000952	Jaundice
OMIM:121300	CPOX	1371	HP:0001744	Splenomegaly
OMIM:121300	CPOX	1371	HP:0100785	Insomnia
OMIM:121300	CPOX	1371	HP:0000992	Cutaneous photosensitivity
OMIM:121300	CPOX	1371	HP:0002203	Respiratory paralysis
OMIM:121300	CPOX	1371	HP:0002014	Diarrhea
OMIM:121300	CPOX	1371	HP:0002027	Abdominal pain
OMIM:121300	CPOX	1371	HP:0009830	Peripheral neuropathy
OMIM:121300	CPOX	1371	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:121300	CPOX	1371	HP:0001289	Confusion
OMIM:121300	CPOX	1371	HP:0002240	Hepatomegaly
OMIM:121300	CPOX	1371	HP:0000006	Autosomal dominant inheritance
OMIM:121300	CPOX	1371	HP:0000739	Anxiety
OMIM:121300	CPOX	1371	HP:0003829	Incomplete penetrance
OMIM:121300	CPOX	1371	HP:0003489	Acute episodes of neuropathic symptoms
OMIM:121300	CPOX	1371	HP:0004804	Congenital hemolytic anemia
OMIM:121300	CPOX	1371	HP:0002013	Vomiting
OMIM:121300	CPOX	1371	HP:0000738	Hallucinations
OMIM:121300	CPOX	1371	HP:0000822	Hypertension
OMIM:121300	CPOX	1371	HP:0002019	Constipation
OMIM:121300	CPOX	1371	HP:0001649	Tachycardia
OMIM:602083	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:602083	PCDH15	65217	HP:0001270	Motor delay
OMIM:602083	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:602083	PCDH15	65217	HP:0008527	Congenital sensorineural hearing impairment
ORPHA:1766	TUBB2B	347733	HP:0001251	Ataxia
ORPHA:1766	TUBB2B	347733	HP:0001250	Seizures
ORPHA:1766	TUBB2B	347733	HP:0001249	Intellectual disability
ORPHA:1766	TUBB2B	347733	HP:0001252	Muscular hypotonia
ORPHA:1766	TUBB2B	347733	HP:0003202	Skeletal muscle atrophy
ORPHA:1766	TUBB2B	347733	HP:0004322	Short stature
ORPHA:1766	TUBB2B	347733	HP:0000486	Strabismus
ORPHA:1766	TUBB2B	347733	HP:0001288	Gait disturbance
ORPHA:1766	TUBB2B	347733	HP:0001347	Hyperreflexia
ORPHA:1766	TUBB2B	347733	HP:0100021	Cerebral palsy
ORPHA:1766	ATP8A2	51761	HP:0001251	Ataxia
ORPHA:1766	ATP8A2	51761	HP:0001250	Seizures
ORPHA:1766	ATP8A2	51761	HP:0001249	Intellectual disability
ORPHA:1766	ATP8A2	51761	HP:0001252	Muscular hypotonia
ORPHA:1766	ATP8A2	51761	HP:0003202	Skeletal muscle atrophy
ORPHA:1766	ATP8A2	51761	HP:0004322	Short stature
ORPHA:1766	ATP8A2	51761	HP:0000486	Strabismus
ORPHA:1766	ATP8A2	51761	HP:0001288	Gait disturbance
ORPHA:1766	ATP8A2	51761	HP:0001347	Hyperreflexia
ORPHA:1766	ATP8A2	51761	HP:0100021	Cerebral palsy
ORPHA:1766	WDR81	124997	HP:0001251	Ataxia
ORPHA:1766	WDR81	124997	HP:0001250	Seizures
ORPHA:1766	WDR81	124997	HP:0001249	Intellectual disability
ORPHA:1766	WDR81	124997	HP:0001252	Muscular hypotonia
ORPHA:1766	WDR81	124997	HP:0003202	Skeletal muscle atrophy
ORPHA:1766	WDR81	124997	HP:0004322	Short stature
ORPHA:1766	WDR81	124997	HP:0000486	Strabismus
ORPHA:1766	WDR81	124997	HP:0001288	Gait disturbance
ORPHA:1766	WDR81	124997	HP:0001347	Hyperreflexia
ORPHA:1766	WDR81	124997	HP:0100021	Cerebral palsy
ORPHA:1766	VLDLR	7436	HP:0001251	Ataxia
ORPHA:1766	VLDLR	7436	HP:0001250	Seizures
ORPHA:1766	VLDLR	7436	HP:0001249	Intellectual disability
ORPHA:1766	VLDLR	7436	HP:0001252	Muscular hypotonia
ORPHA:1766	VLDLR	7436	HP:0003202	Skeletal muscle atrophy
ORPHA:1766	VLDLR	7436	HP:0004322	Short stature
ORPHA:1766	VLDLR	7436	HP:0000486	Strabismus
ORPHA:1766	VLDLR	7436	HP:0001288	Gait disturbance
ORPHA:1766	VLDLR	7436	HP:0001347	Hyperreflexia
ORPHA:1766	VLDLR	7436	HP:0100021	Cerebral palsy
ORPHA:1766	CA8	767	HP:0001251	Ataxia
ORPHA:1766	CA8	767	HP:0001250	Seizures
ORPHA:1766	CA8	767	HP:0001249	Intellectual disability
ORPHA:1766	CA8	767	HP:0001252	Muscular hypotonia
ORPHA:1766	CA8	767	HP:0003202	Skeletal muscle atrophy
ORPHA:1766	CA8	767	HP:0004322	Short stature
ORPHA:1766	CA8	767	HP:0000486	Strabismus
ORPHA:1766	CA8	767	HP:0001288	Gait disturbance
ORPHA:1766	CA8	767	HP:0001347	Hyperreflexia
ORPHA:1766	CA8	767	HP:0100021	Cerebral palsy
OMIM:616738	MECOM	2122	HP:0010557	Overlapping fingers
OMIM:616738	MECOM	2122	HP:0000034	Hydrocele testis
OMIM:616738	MECOM	2122	HP:0001903	Anemia
OMIM:616738	MECOM	2122	HP:0006394	Limited pronation/supination of forearm
OMIM:616738	MECOM	2122	HP:0002974	Radioulnar synostosis
OMIM:616738	MECOM	2122	HP:0001873	Thrombocytopenia
OMIM:616738	MECOM	2122	HP:0001875	Neutropenia
OMIM:616738	MECOM	2122	HP:0001905	Congenital thrombocytopenia
OMIM:616738	MECOM	2122	HP:0000006	Autosomal dominant inheritance
OMIM:249420	SH3PXD2B	285590	HP:0000520	Proptosis
OMIM:249420	SH3PXD2B	285590	HP:0004611	Anterior concavity of thoracic vertebrae
OMIM:249420	SH3PXD2B	285590	HP:0011220	Prominent forehead
OMIM:249420	SH3PXD2B	285590	HP:0001840	Metatarsus adductus
OMIM:249420	SH3PXD2B	285590	HP:0001090	Large eyes
OMIM:249420	SH3PXD2B	285590	HP:0000212	Gingival overgrowth
OMIM:249420	SH3PXD2B	285590	HP:0000767	Pectus excavatum
OMIM:249420	SH3PXD2B	285590	HP:0001762	Talipes equinovarus
OMIM:249420	SH3PXD2B	285590	HP:0001634	Mitral valve prolapse
OMIM:249420	SH3PXD2B	285590	HP:0000260	Wide anterior fontanel
OMIM:249420	SH3PXD2B	285590	HP:0000557	Buphthalmos
OMIM:249420	SH3PXD2B	285590	HP:0000689	Dental malocclusion
OMIM:249420	SH3PXD2B	285590	HP:0000494	Downslanted palpebral fissures
OMIM:249420	SH3PXD2B	285590	HP:0000154	Wide mouth
OMIM:249420	SH3PXD2B	285590	HP:0009803	Short phalanx of finger
OMIM:249420	SH3PXD2B	285590	HP:0000280	Coarse facial features
OMIM:249420	SH3PXD2B	285590	HP:0000369	Low-set ears
OMIM:249420	SH3PXD2B	285590	HP:0000347	Micrognathia
OMIM:249420	SH3PXD2B	285590	HP:0005469	Flat occiput
OMIM:249420	SH3PXD2B	285590	HP:0001385	Hip dysplasia
OMIM:249420	SH3PXD2B	285590	HP:0000916	Broad clavicles
OMIM:249420	SH3PXD2B	285590	HP:0003026	Short long bone
OMIM:249420	SH3PXD2B	285590	HP:0000411	Protruding ear
OMIM:249420	SH3PXD2B	285590	HP:0000293	Full cheeks
OMIM:249420	SH3PXD2B	285590	HP:0000938	Osteopenia
OMIM:249420	SH3PXD2B	285590	HP:0000270	Delayed cranial suture closure
OMIM:249420	SH3PXD2B	285590	HP:0000455	Broad nasal tip
OMIM:249420	SH3PXD2B	285590	HP:0002645	Wormian bones
OMIM:249420	SH3PXD2B	285590	HP:0000007	Autosomal recessive inheritance
OMIM:249420	SH3PXD2B	285590	HP:0000316	Hypertelorism
OMIM:249420	SH3PXD2B	285590	HP:0001510	Growth delay
OMIM:249420	SH3PXD2B	285590	HP:0000218	High palate
OMIM:249420	SH3PXD2B	285590	HP:0005731	Cortical irregularity
OMIM:249420	SH3PXD2B	285590	HP:0006487	Bowing of the long bones
OMIM:249420	SH3PXD2B	285590	HP:0040016	Prominent coccyx
OMIM:249420	SH3PXD2B	285590	HP:0003015	Flared metaphysis
OMIM:249420	SH3PXD2B	285590	HP:0000939	Osteoporosis
OMIM:613986	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:613986	OTX2	5015	HP:0004322	Short stature
OMIM:613986	OTX2	5015	HP:0011755	Ectopic posterior pituitary
OMIM:605231	MKKS	8195	HP:0000107	Renal cyst
OMIM:605231	MKKS	8195	HP:0010442	Polydactyly
OMIM:605231	MKKS	8195	HP:0000047	Hypospadias
OMIM:605231	MKKS	8195	HP:0000007	Autosomal recessive inheritance
OMIM:605231	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:605231	MKKS	8195	HP:0000819	Diabetes mellitus
OMIM:605231	MKKS	8195	HP:0001159	Syndactyly
OMIM:605231	MKKS	8195	HP:0001249	Intellectual disability
OMIM:605231	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:605231	MKKS	8195	HP:0001513	Obesity
OMIM:309510	ARX	170302	HP:0004373	Focal dystonia
OMIM:309510	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:309510	ARX	170302	HP:0001250	Seizures
OMIM:309510	ARX	170302	HP:0002451	Limb dystonia
OMIM:309510	ARX	170302	HP:0001260	Dysarthria
OMIM:309510	ARX	170302	HP:0001371	Flexion contracture
OMIM:309510	ARX	170302	HP:0001249	Intellectual disability
OMIM:309510	ARX	170302	HP:0002061	Lower limb spasticity
OMIM:309510	ARX	170302	HP:0000325	Triangular face
OMIM:309510	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:309510	ARX	170302	HP:0002353	EEG abnormality
ORPHA:75496	B4GALT7	11285	HP:0000963	Thin skin
ORPHA:75496	B4GALT7	11285	HP:0000028	Cryptorchidism
ORPHA:75496	B4GALT7	11285	HP:0001000	Abnormality of skin pigmentation
ORPHA:75496	B4GALT7	11285	HP:0007469	Palmoplantar cutis gyrata
ORPHA:75496	B4GALT7	11285	HP:0100813	Testicular torsion
ORPHA:75496	B4GALT7	11285	HP:0000653	Sparse eyelashes
ORPHA:75496	B4GALT7	11285	HP:0000160	Narrow mouth
ORPHA:75496	B4GALT7	11285	HP:0000286	Epicanthus
ORPHA:75496	B4GALT7	11285	HP:0001650	Aortic valve stenosis
ORPHA:75496	B4GALT7	11285	HP:0000974	Hyperextensible skin
ORPHA:75496	B4GALT7	11285	HP:0000256	Macrocephaly
ORPHA:75496	B4GALT7	11285	HP:0001371	Flexion contracture
ORPHA:75496	B4GALT7	11285	HP:0001263	Global developmental delay
ORPHA:75496	B4GALT7	11285	HP:0005328	Progeroid facial appearance
ORPHA:75496	B4GALT7	11285	HP:0000973	Cutis laxa
ORPHA:75496	B4GALT7	11285	HP:0003202	Skeletal muscle atrophy
ORPHA:75496	B4GALT7	11285	HP:0000230	Gingivitis
ORPHA:75496	B4GALT7	11285	HP:0001642	Pulmonic stenosis
ORPHA:75496	B4GALT7	11285	HP:0001075	Atrophic scars
ORPHA:75496	B4GALT7	11285	HP:0001763	Pes planus
ORPHA:75496	B4GALT7	11285	HP:0010511	Long toe
ORPHA:75496	B4GALT7	11285	HP:0001999	Abnormal facial shape
ORPHA:75496	B4GALT7	11285	HP:0002652	Skeletal dysplasia
ORPHA:75496	B4GALT7	11285	HP:0004322	Short stature
ORPHA:75496	B4GALT7	11285	HP:0009125	Lipodystrophy
ORPHA:75496	B4GALT7	11285	HP:0002209	Sparse scalp hair
ORPHA:75496	B4GALT7	11285	HP:0000506	Telecanthus
ORPHA:75496	B4GALT7	11285	HP:0001166	Arachnodactyly
ORPHA:75496	B4GALT7	11285	HP:0000431	Wide nasal bridge
ORPHA:75496	B4GALT7	11285	HP:0000535	Sparse and thin eyebrow
ORPHA:75496	B4GALT7	11285	HP:0001252	Muscular hypotonia
ORPHA:75496	B4GALT7	11285	HP:0000938	Osteopenia
ORPHA:75496	B3GALT6	126792	HP:0000963	Thin skin
ORPHA:75496	B3GALT6	126792	HP:0000028	Cryptorchidism
ORPHA:75496	B3GALT6	126792	HP:0001000	Abnormality of skin pigmentation
ORPHA:75496	B3GALT6	126792	HP:0007469	Palmoplantar cutis gyrata
ORPHA:75496	B3GALT6	126792	HP:0100813	Testicular torsion
ORPHA:75496	B3GALT6	126792	HP:0000653	Sparse eyelashes
ORPHA:75496	B3GALT6	126792	HP:0000160	Narrow mouth
ORPHA:75496	B3GALT6	126792	HP:0000286	Epicanthus
ORPHA:75496	B3GALT6	126792	HP:0001650	Aortic valve stenosis
ORPHA:75496	B3GALT6	126792	HP:0000974	Hyperextensible skin
ORPHA:75496	B3GALT6	126792	HP:0000256	Macrocephaly
ORPHA:75496	B3GALT6	126792	HP:0001371	Flexion contracture
ORPHA:75496	B3GALT6	126792	HP:0001263	Global developmental delay
ORPHA:75496	B3GALT6	126792	HP:0005328	Progeroid facial appearance
ORPHA:75496	B3GALT6	126792	HP:0000973	Cutis laxa
ORPHA:75496	B3GALT6	126792	HP:0003202	Skeletal muscle atrophy
ORPHA:75496	B3GALT6	126792	HP:0000230	Gingivitis
ORPHA:75496	B3GALT6	126792	HP:0001642	Pulmonic stenosis
ORPHA:75496	B3GALT6	126792	HP:0001075	Atrophic scars
ORPHA:75496	B3GALT6	126792	HP:0001763	Pes planus
ORPHA:75496	B3GALT6	126792	HP:0010511	Long toe
ORPHA:75496	B3GALT6	126792	HP:0001999	Abnormal facial shape
ORPHA:75496	B3GALT6	126792	HP:0002652	Skeletal dysplasia
ORPHA:75496	B3GALT6	126792	HP:0004322	Short stature
ORPHA:75496	B3GALT6	126792	HP:0009125	Lipodystrophy
ORPHA:75496	B3GALT6	126792	HP:0002209	Sparse scalp hair
ORPHA:75496	B3GALT6	126792	HP:0000506	Telecanthus
ORPHA:75496	B3GALT6	126792	HP:0001166	Arachnodactyly
ORPHA:75496	B3GALT6	126792	HP:0000431	Wide nasal bridge
ORPHA:75496	B3GALT6	126792	HP:0000535	Sparse and thin eyebrow
ORPHA:75496	B3GALT6	126792	HP:0001252	Muscular hypotonia
ORPHA:75496	B3GALT6	126792	HP:0000938	Osteopenia
OMIM:616425	SOX9	6662	HP:0012245	Sex reversal
OMIM:616425	SOX9	6662	HP:0100621	Dysgerminoma
OMIM:616425	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:616425	SOX9	6662	HP:0000150	Gonadoblastoma
OMIM:616425	SOX9	6662	HP:0000054	Micropenis
OMIM:258900	UMPS	7372	HP:0003339	Pyrimidine-responsive megaloblastic anemia
OMIM:258900	UMPS	7372	HP:0003526	Orotic acid crystalluria
OMIM:258900	UMPS	7372	HP:0004826	Folate-unresponsive megaloblastic anemia
OMIM:258900	UMPS	7372	HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase activity
OMIM:258900	UMPS	7372	HP:0011273	Anisocytosis
OMIM:258900	UMPS	7372	HP:0003218	Oroticaciduria
OMIM:258900	UMPS	7372	HP:0000007	Autosomal recessive inheritance
OMIM:258900	UMPS	7372	HP:0004447	Poikilocytosis
OMIM:258900	UMPS	7372	HP:0000790	Hematuria
OMIM:614899	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614899	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:617086	MFF	56947	HP:0006829	Severe muscular hypotonia
OMIM:617086	MFF	56947	HP:0000505	Visual impairment
OMIM:617086	MFF	56947	HP:0001263	Global developmental delay
OMIM:617086	MFF	56947	HP:0002540	Inability to walk
OMIM:617086	MFF	56947	HP:0001347	Hyperreflexia
OMIM:617086	MFF	56947	HP:0000648	Optic atrophy
OMIM:617086	MFF	56947	HP:0000007	Autosomal recessive inheritance
OMIM:617086	MFF	56947	HP:0001257	Spasticity
OMIM:617086	MFF	56947	HP:0001272	Cerebellar atrophy
OMIM:617086	MFF	56947	HP:0003676	Progressive
OMIM:617086	MFF	56947	HP:0002015	Dysphagia
OMIM:617086	MFF	56947	HP:0002521	Hypsarrhythmia
OMIM:617086	MFF	56947	HP:0000252	Microcephaly
OMIM:617086	MFF	56947	HP:0001250	Seizures
OMIM:617086	MFF	56947	HP:0003593	Infantile onset
OMIM:617086	MFF	56947	HP:0009830	Peripheral neuropathy
OMIM:617086	MFF	56947	HP:0000544	External ophthalmoplegia
OMIM:617086	MFF	56947	HP:0001344	Absent speech
OMIM:617127	KIAA0753	9851	HP:0000180	Lobulated tongue
OMIM:617127	KIAA0753	9851	HP:0002119	Ventriculomegaly
OMIM:617127	KIAA0753	9851	HP:0000316	Hypertelorism
OMIM:617127	KIAA0753	9851	HP:0012368	Flat face
OMIM:617127	KIAA0753	9851	HP:0001274	Agenesis of corpus callosum
OMIM:617127	KIAA0753	9851	HP:0010055	Broad hallux
OMIM:617127	KIAA0753	9851	HP:0000431	Wide nasal bridge
OMIM:617127	KIAA0753	9851	HP:0000463	Anteverted nares
OMIM:617127	KIAA0753	9851	HP:0002419	Molar tooth sign on MRI
OMIM:617127	KIAA0753	9851	HP:0000007	Autosomal recessive inheritance
ORPHA:37	SLC39A4	55630	HP:0001596	Alopecia
ORPHA:37	SLC39A4	55630	HP:0004322	Short stature
ORPHA:37	SLC39A4	55630	HP:0002024	Malabsorption
ORPHA:37	SLC39A4	55630	HP:0002028	Chronic diarrhea
ORPHA:37	SLC39A4	55630	HP:0000206	Glossitis
ORPHA:37	SLC39A4	55630	HP:0000958	Dry skin
ORPHA:37	SLC39A4	55630	HP:0001508	Failure to thrive
ORPHA:37	SLC39A4	55630	HP:0002120	Cerebral cortical atrophy
ORPHA:37	SLC39A4	55630	HP:0010783	Erythema
ORPHA:37	SLC39A4	55630	HP:0000509	Conjunctivitis
ORPHA:37	SLC39A4	55630	HP:0001818	Paronychia
ORPHA:37	SLC39A4	55630	HP:0000534	Abnormality of the eyebrow
ORPHA:37	SLC39A4	55630	HP:0008066	Abnormal blistering of the skin
ORPHA:37	SLC39A4	55630	HP:0000221	Furrowed tongue
ORPHA:37	SLC39A4	55630	HP:0100825	Cheilitis
ORPHA:37	SLC39A4	55630	HP:0200042	Skin ulcer
ORPHA:37	SLC39A4	55630	HP:0000613	Photophobia
ORPHA:37	SLC39A4	55630	HP:0001807	Ridged nail
ORPHA:37	SLC39A4	55630	HP:0200039	Pustule
ORPHA:37	SLC39A4	55630	HP:0000712	Emotional lability
ORPHA:37	SLC39A4	55630	HP:0000498	Blepharitis
ORPHA:37	SLC39A4	55630	HP:0008402	Ridged fingernail
ORPHA:3453	AIRE	326	HP:0000505	Visual impairment
ORPHA:3453	AIRE	326	HP:0000829	Hypoparathyroidism
ORPHA:3453	AIRE	326	HP:0002728	Chronic mucocutaneous candidiasis
ORPHA:3453	AIRE	326	HP:0000518	Cataract
ORPHA:3453	AIRE	326	HP:0002960	Autoimmunity
ORPHA:3453	AIRE	326	HP:0004319	Decreased circulating aldosterone level
ORPHA:3453	AIRE	326	HP:0003118	Increased circulating cortisol level
ORPHA:3453	AIRE	326	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:3453	AIRE	326	HP:0008221	Adrenal hyperplasia
ORPHA:3453	AIRE	326	HP:0000613	Photophobia
ORPHA:3453	AIRE	326	HP:0001231	Abnormality of the fingernails
ORPHA:3453	AIRE	326	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:3453	AIRE	326	HP:0007759	Opacification of the corneal stroma
ORPHA:73272	IGF1	3479	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:73272	IGF1	3479	HP:0001508	Failure to thrive
ORPHA:73272	IGF1	3479	HP:0000347	Micrognathia
ORPHA:73272	IGF1	3479	HP:0008527	Congenital sensorineural hearing impairment
ORPHA:73272	IGF1	3479	HP:0006266	Small placenta
ORPHA:73272	IGF1	3479	HP:0003265	Neonatal hyperbilirubinemia
ORPHA:73272	IGF1	3479	HP:0008846	Severe intrauterine growth retardation
ORPHA:73272	IGF1	3479	HP:0001518	Small for gestational age
ORPHA:73272	IGF1	3479	HP:0001999	Abnormal facial shape
ORPHA:73272	IGF1	3479	HP:0008619	Bilateral sensorineural hearing impairment
ORPHA:73272	IGF1	3479	HP:0002750	Delayed skeletal maturation
ORPHA:73272	IGF1	3479	HP:0000135	Hypogonadism
ORPHA:73272	IGF1	3479	HP:0000252	Microcephaly
ORPHA:73272	IGF1	3479	HP:0004209	Clinodactyly of the 5th finger
ORPHA:73272	IGF1	3479	HP:0000855	Insulin resistance
ORPHA:73272	IGF1	3479	HP:0008850	Severe postnatal growth retardation
ORPHA:73272	IGF1	3479	HP:0001256	Intellectual disability, mild
ORPHA:73272	IGF1	3479	HP:0004322	Short stature
ORPHA:73272	IGF1	3479	HP:0000399	Prelingual sensorineural hearing impairment
ORPHA:73272	IGF1	3479	HP:0000684	Delayed eruption of teeth
ORPHA:73272	IGF1	3479	HP:0000939	Osteoporosis
OMIM:300640	IKBKG	8517	HP:0002007	Frontal bossing
OMIM:300640	IKBKG	8517	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:300640	IKBKG	8517	HP:0011065	Conical incisor
OMIM:300640	IKBKG	8517	HP:0000958	Dry skin
OMIM:300640	IKBKG	8517	HP:0000668	Hypodontia
ORPHA:79443	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:79443	GNAS	2778	HP:0011986	Ectopic ossification
ORPHA:79443	GNAS	2778	HP:0004322	Short stature
ORPHA:79443	GNAS	2778	HP:0012185	Constrictive median neuropathy
ORPHA:79443	GNAS	2778	HP:0002591	Polyphagia
ORPHA:79443	GNAS	2778	HP:0010047	Short 5th metacarpal
ORPHA:79443	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
ORPHA:79443	GNAS	2778	HP:0010027	Broad 1st metacarpal
ORPHA:79443	GNAS	2778	HP:0000293	Full cheeks
ORPHA:79443	GNAS	2778	HP:0000518	Cataract
ORPHA:79443	GNAS	2778	HP:0004704	Short fifth metatarsal
ORPHA:79443	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:79443	GNAS	2778	HP:0011001	Increased bone mineral density
ORPHA:79443	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:79443	GNAS	2778	HP:0000470	Short neck
ORPHA:79443	GNAS	2778	HP:0006960	Choroid plexus calcification
ORPHA:79443	GNAS	2778	HP:0010044	Short 4th metacarpal
ORPHA:79443	GNAS	2778	HP:0001513	Obesity
ORPHA:79443	GNAS	2778	HP:0000639	Nystagmus
ORPHA:79443	GNAS	2778	HP:0008227	Pituitary resistance to thyroid hormone
ORPHA:79443	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:79443	GNAS	2778	HP:0000311	Round face
ORPHA:79443	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:79443	GNAS	2778	HP:0001249	Intellectual disability
ORPHA:79443	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:79443	GNAS	2778	HP:0000824	Growth hormone deficiency
ORPHA:79443	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:79443	GNAS	2778	HP:0002684	Thickened calvaria
ORPHA:79443	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:274600	SLC26A4	5172	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274600	SLC26A4	5172	HP:0002890	Thyroid carcinoma
OMIM:274600	SLC26A4	5172	HP:0000853	Goiter
OMIM:274600	SLC26A4	5172	HP:0008554	Cochlear malformation
OMIM:274600	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:274600	SLC26A4	5172	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	SLC26A4	5172	HP:0001249	Intellectual disability
OMIM:274600	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:274600	SLC26A4	5172	HP:0008223	Compensated hypothyroidism
OMIM:274600	KCNJ10	3766	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274600	KCNJ10	3766	HP:0002890	Thyroid carcinoma
OMIM:274600	KCNJ10	3766	HP:0000853	Goiter
OMIM:274600	KCNJ10	3766	HP:0008554	Cochlear malformation
OMIM:274600	KCNJ10	3766	HP:0001751	Vestibular dysfunction
OMIM:274600	KCNJ10	3766	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	KCNJ10	3766	HP:0001249	Intellectual disability
OMIM:274600	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:274600	KCNJ10	3766	HP:0008223	Compensated hypothyroidism
OMIM:274600	FOXI1	2299	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274600	FOXI1	2299	HP:0002890	Thyroid carcinoma
OMIM:274600	FOXI1	2299	HP:0000853	Goiter
OMIM:274600	FOXI1	2299	HP:0008554	Cochlear malformation
OMIM:274600	FOXI1	2299	HP:0001751	Vestibular dysfunction
OMIM:274600	FOXI1	2299	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	FOXI1	2299	HP:0001249	Intellectual disability
OMIM:274600	FOXI1	2299	HP:0000007	Autosomal recessive inheritance
OMIM:274600	FOXI1	2299	HP:0008223	Compensated hypothyroidism
OMIM:607485	GRN	2896	HP:0030214	Hypersexuality
OMIM:607485	GRN	2896	HP:0000741	Apathy
OMIM:607485	GRN	2896	HP:0000751	Personality changes
OMIM:607485	GRN	2896	HP:0002591	Polyphagia
OMIM:607485	GRN	2896	HP:0008762	Repetitive compulsive behavior
OMIM:607485	GRN	2896	HP:0000738	Hallucinations
OMIM:607485	GRN	2896	HP:0002354	Memory impairment
OMIM:607485	GRN	2896	HP:0006956	Dilation of lateral ventricles
OMIM:607485	GRN	2896	HP:0007064	Progressive language deterioration
OMIM:607485	GRN	2896	HP:0000734	Disinhibition
OMIM:607485	GRN	2896	HP:0002145	Frontotemporal dementia
OMIM:607485	GRN	2896	HP:0000713	Agitation
OMIM:607485	GRN	2896	HP:0002381	Aphasia
OMIM:607485	GRN	2896	HP:0002300	Mutism
OMIM:607485	GRN	2896	HP:0002171	Gliosis
OMIM:607485	GRN	2896	HP:0002120	Cerebral cortical atrophy
OMIM:607485	GRN	2896	HP:0002357	Dysphasia
OMIM:607485	GRN	2896	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	GRN	2896	HP:0030223	Perseveration
OMIM:607485	GRN	2896	HP:0000006	Autosomal dominant inheritance
OMIM:607485	GRN	2896	HP:0000710	Hyperorality
OMIM:607485	GRN	2896	HP:0001300	Parkinsonism
OMIM:607485	GRN	2896	HP:0002186	Apraxia
OMIM:230350	GALE	2582	HP:0000007	Autosomal recessive inheritance
OMIM:230350	GALE	2582	HP:0000750	Delayed speech and language development
OMIM:230350	GALE	2582	HP:0002194	Delayed gross motor development
OMIM:230350	GALE	2582	HP:0001263	Global developmental delay
OMIM:230350	GALE	2582	HP:0001290	Generalized hypotonia
OMIM:230350	GALE	2582	HP:0001744	Splenomegaly
OMIM:230350	GALE	2582	HP:0012023	Galactosuria
OMIM:230350	GALE	2582	HP:0002240	Hepatomegaly
OMIM:230350	GALE	2582	HP:0001508	Failure to thrive
OMIM:230350	GALE	2582	HP:0002013	Vomiting
OMIM:230350	GALE	2582	HP:0012024	Hypergalactosemia
OMIM:230350	GALE	2582	HP:0000407	Sensorineural hearing impairment
OMIM:230350	GALE	2582	HP:0003355	Aminoaciduria
OMIM:230350	GALE	2582	HP:0000952	Jaundice
OMIM:230350	GALE	2582	HP:0001249	Intellectual disability
ORPHA:3389	SLC11A1	6556	HP:0002088	Abnormality of lung morphology
ORPHA:3389	SLC11A1	6556	HP:0012378	Fatigue
ORPHA:3389	SLC11A1	6556	HP:0001824	Weight loss
ORPHA:3389	SLC11A1	6556	HP:0001945	Fever
ORPHA:3389	SLC11A1	6556	HP:0012735	Cough
OMIM:615267	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:615267	IL17RD	54756	HP:0000135	Hypogonadism
ORPHA:64	ALMS1	7840	HP:0000389	Chronic otitis media
ORPHA:64	ALMS1	7840	HP:0000639	Nystagmus
ORPHA:64	ALMS1	7840	HP:0001644	Dilated cardiomyopathy
ORPHA:64	ALMS1	7840	HP:0100613	Death in early adulthood
ORPHA:64	ALMS1	7840	HP:0000956	Acanthosis nigricans
ORPHA:64	ALMS1	7840	HP:0004322	Short stature
ORPHA:64	ALMS1	7840	HP:0002099	Asthma
ORPHA:64	ALMS1	7840	HP:0002093	Respiratory insufficiency
ORPHA:64	ALMS1	7840	HP:0000529	Progressive visual loss
ORPHA:64	ALMS1	7840	HP:0001956	Truncal obesity
ORPHA:64	ALMS1	7840	HP:0002205	Recurrent respiratory infections
ORPHA:64	ALMS1	7840	HP:0000548	Cone/cone-rod dystrophy
ORPHA:64	ALMS1	7840	HP:0000618	Blindness
ORPHA:64	ALMS1	7840	HP:0000518	Cataract
ORPHA:64	ALMS1	7840	HP:0000855	Insulin resistance
ORPHA:64	ALMS1	7840	HP:0005978	Type II diabetes mellitus
ORPHA:64	ALMS1	7840	HP:0000408	Progressive sensorineural hearing impairment
ORPHA:64	ALMS1	7840	HP:0000842	Hyperinsulinemia
ORPHA:64	ALMS1	7840	HP:0002092	Pulmonary arterial hypertension
ORPHA:64	ALMS1	7840	HP:0000532	Chorioretinal abnormality
ORPHA:64	ALMS1	7840	HP:0000613	Photophobia
ORPHA:64	ALMS1	7840	HP:0002155	Hypertriglyceridemia
OMIM:606824	SLC5A1	6523	HP:0004924	Abnormal oral glucose tolerance
OMIM:606824	SLC5A1	6523	HP:0030143	Hyperactive bowel sounds
OMIM:606824	SLC5A1	6523	HP:0001942	Metabolic acidosis
OMIM:606824	SLC5A1	6523	HP:0000007	Autosomal recessive inheritance
OMIM:606824	SLC5A1	6523	HP:0001508	Failure to thrive
OMIM:606824	SLC5A1	6523	HP:0003270	Abdominal distention
OMIM:606824	SLC5A1	6523	HP:0001986	Hypertonic dehydration
OMIM:606824	SLC5A1	6523	HP:0003076	Glycosuria
OMIM:606824	SLC5A1	6523	HP:0002028	Chronic diarrhea
OMIM:221770	TREM2	54209	HP:0001336	Myoclonus
OMIM:221770	TREM2	54209	HP:0003487	Babinski sign
OMIM:221770	TREM2	54209	HP:0000734	Disinhibition
OMIM:221770	TREM2	54209	HP:0001250	Seizures
OMIM:221770	TREM2	54209	HP:0000007	Autosomal recessive inheritance
OMIM:221770	TREM2	54209	HP:0001155	Abnormality of the hand
OMIM:221770	TREM2	54209	HP:0002340	Caudate atrophy
OMIM:221770	TREM2	54209	HP:0003447	Axonal loss
OMIM:221770	TREM2	54209	HP:0002079	Hypoplasia of the corpus callosum
OMIM:221770	TREM2	54209	HP:0000751	Personality changes
OMIM:221770	TREM2	54209	HP:0002756	Pathologic fracture
OMIM:221770	TREM2	54209	HP:0002353	EEG abnormality
OMIM:221770	TREM2	54209	HP:0011096	Peripheral demyelination
OMIM:221770	TREM2	54209	HP:0002476	Primitive reflex
OMIM:221770	TREM2	54209	HP:0000718	Aggressive behavior
OMIM:221770	TREM2	54209	HP:0000727	Frontal lobe dementia
OMIM:221770	TREM2	54209	HP:0002186	Apraxia
OMIM:221770	TREM2	54209	HP:0002127	Abnormal upper motor neuron morphology
OMIM:221770	TREM2	54209	HP:0002167	Neurological speech impairment
OMIM:221770	TREM2	54209	HP:0000757	Lack of insight
OMIM:221770	TREM2	54209	HP:0001257	Spasticity
OMIM:221770	TREM2	54209	HP:0002059	Cerebral atrophy
OMIM:221770	TREM2	54209	HP:0000020	Urinary incontinence
OMIM:221770	TREM2	54209	HP:0010524	Agnosia
OMIM:221770	TREM2	54209	HP:0001760	Abnormality of the foot
OMIM:221770	TREM2	54209	HP:0012062	Bone cyst
OMIM:221770	TREM2	54209	HP:0002135	Basal ganglia calcification
OMIM:221770	TREM2	54209	HP:0002354	Memory impairment
OMIM:221770	TREM2	54209	HP:0001288	Gait disturbance
OMIM:221770	TREM2	54209	HP:0002171	Gliosis
OMIM:221770	TREM2	54209	HP:0002352	Leukoencephalopathy
OMIM:221770	TYROBP	7305	HP:0001336	Myoclonus
OMIM:221770	TYROBP	7305	HP:0003487	Babinski sign
OMIM:221770	TYROBP	7305	HP:0000734	Disinhibition
OMIM:221770	TYROBP	7305	HP:0001250	Seizures
OMIM:221770	TYROBP	7305	HP:0000007	Autosomal recessive inheritance
OMIM:221770	TYROBP	7305	HP:0001155	Abnormality of the hand
OMIM:221770	TYROBP	7305	HP:0002340	Caudate atrophy
OMIM:221770	TYROBP	7305	HP:0003447	Axonal loss
OMIM:221770	TYROBP	7305	HP:0002079	Hypoplasia of the corpus callosum
OMIM:221770	TYROBP	7305	HP:0000751	Personality changes
OMIM:221770	TYROBP	7305	HP:0002756	Pathologic fracture
OMIM:221770	TYROBP	7305	HP:0002353	EEG abnormality
OMIM:221770	TYROBP	7305	HP:0011096	Peripheral demyelination
OMIM:221770	TYROBP	7305	HP:0002476	Primitive reflex
OMIM:221770	TYROBP	7305	HP:0000718	Aggressive behavior
OMIM:221770	TYROBP	7305	HP:0000727	Frontal lobe dementia
OMIM:221770	TYROBP	7305	HP:0002186	Apraxia
OMIM:221770	TYROBP	7305	HP:0002127	Abnormal upper motor neuron morphology
OMIM:221770	TYROBP	7305	HP:0002167	Neurological speech impairment
OMIM:221770	TYROBP	7305	HP:0000757	Lack of insight
OMIM:221770	TYROBP	7305	HP:0001257	Spasticity
OMIM:221770	TYROBP	7305	HP:0002059	Cerebral atrophy
OMIM:221770	TYROBP	7305	HP:0000020	Urinary incontinence
OMIM:221770	TYROBP	7305	HP:0010524	Agnosia
OMIM:221770	TYROBP	7305	HP:0001760	Abnormality of the foot
OMIM:221770	TYROBP	7305	HP:0012062	Bone cyst
OMIM:221770	TYROBP	7305	HP:0002135	Basal ganglia calcification
OMIM:221770	TYROBP	7305	HP:0002354	Memory impairment
OMIM:221770	TYROBP	7305	HP:0001288	Gait disturbance
OMIM:221770	TYROBP	7305	HP:0002171	Gliosis
OMIM:221770	TYROBP	7305	HP:0002352	Leukoencephalopathy
OMIM:615030	CYP2U1	113612	HP:0003828	Variable expressivity
OMIM:615030	CYP2U1	113612	HP:0040083	Toe walking
OMIM:615030	CYP2U1	113612	HP:0001270	Motor delay
OMIM:615030	CYP2U1	113612	HP:0003487	Babinski sign
OMIM:615030	CYP2U1	113612	HP:0000007	Autosomal recessive inheritance
OMIM:615030	CYP2U1	113612	HP:0002395	Lower limb hyperreflexia
OMIM:615030	CYP2U1	113612	HP:0001258	Spastic paraplegia
OMIM:615030	CYP2U1	113612	HP:0002317	Unsteady gait
ORPHA:93307	SLC26A2	1836	HP:0001762	Talipes equinovarus
ORPHA:93307	SLC26A2	1836	HP:0002758	Osteoarthritis
ORPHA:93307	SLC26A2	1836	HP:0003045	Abnormality of the patella
ORPHA:93307	SLC26A2	1836	HP:0000175	Cleft palate
ORPHA:93307	SLC26A2	1836	HP:0002650	Scoliosis
ORPHA:93307	SLC26A2	1836	HP:0002829	Arthralgia
ORPHA:93307	SLC26A2	1836	HP:0200055	Small hand
ORPHA:93307	SLC26A2	1836	HP:0002656	Epiphyseal dysplasia
ORPHA:93307	SLC26A2	1836	HP:0004209	Clinodactyly of the 5th finger
OMIM:269250	SLC35D1	23169	HP:0003025	Metaphyseal irregularity
OMIM:269250	SLC35D1	23169	HP:0004233	Advanced ossification of carpal bones
OMIM:269250	SLC35D1	23169	HP:0000773	Short ribs
OMIM:269250	SLC35D1	23169	HP:0000272	Malar flattening
OMIM:269250	SLC35D1	23169	HP:0000470	Short neck
OMIM:269250	SLC35D1	23169	HP:0000907	Anterior rib cupping
OMIM:269250	SLC35D1	23169	HP:0000947	Dumbbell-shaped long bone
OMIM:269250	SLC35D1	23169	HP:0001561	Polyhydramnios
OMIM:269250	SLC35D1	23169	HP:0008873	Disproportionate short-limb short stature
OMIM:269250	SLC35D1	23169	HP:0000882	Hypoplastic scapulae
OMIM:269250	SLC35D1	23169	HP:0003826	Stillbirth
OMIM:269250	SLC35D1	23169	HP:0001156	Brachydactyly
OMIM:269250	SLC35D1	23169	HP:0000007	Autosomal recessive inheritance
OMIM:269250	SLC35D1	23169	HP:0000774	Narrow chest
OMIM:269250	SLC35D1	23169	HP:0011800	Midface retrusion
OMIM:269250	SLC35D1	23169	HP:0000256	Macrocephaly
OMIM:269250	SLC35D1	23169	HP:0000175	Cleft palate
OMIM:269250	SLC35D1	23169	HP:0003300	Ovoid vertebral bodies
OMIM:269250	SLC35D1	23169	HP:0008108	Advanced tarsal ossification
OMIM:269250	SLC35D1	23169	HP:0000895	Lateral clavicle hook
OMIM:269250	SLC35D1	23169	HP:0003180	Flat acetabular roof
OMIM:269250	SLC35D1	23169	HP:0031026	Snail-like ilia
OMIM:614266	ASCC1	51008	HP:0100580	Barrett esophagus
OMIM:614266	ASCC1	51008	HP:0011459	Esophageal carcinoma
OMIM:614266	ASCC1	51008	HP:0001428	Somatic mutation
OMIM:614266	MSR1	4481	HP:0100580	Barrett esophagus
OMIM:614266	MSR1	4481	HP:0011459	Esophageal carcinoma
OMIM:614266	MSR1	4481	HP:0001428	Somatic mutation
OMIM:614266	CTHRC1	115908	HP:0100580	Barrett esophagus
OMIM:614266	CTHRC1	115908	HP:0011459	Esophageal carcinoma
OMIM:614266	CTHRC1	115908	HP:0001428	Somatic mutation
OMIM:102500	NOTCH2	4853	HP:0008421	Tall lumbar vertebral bodies
OMIM:102500	NOTCH2	4853	HP:0000405	Conductive hearing impairment
OMIM:102500	NOTCH2	4853	HP:0001537	Umbilical hernia
OMIM:102500	NOTCH2	4853	HP:0009748	Large earlobe
OMIM:102500	NOTCH2	4853	HP:0000445	Wide nose
OMIM:102500	NOTCH2	4853	HP:0000494	Downslanted palpebral fissures
OMIM:102500	NOTCH2	4853	HP:0005758	Basilar impression
OMIM:102500	NOTCH2	4853	HP:0002953	Vertebral compression fractures
OMIM:102500	NOTCH2	4853	HP:0000689	Dental malocclusion
OMIM:102500	NOTCH2	4853	HP:0001643	Patent ductus arteriosus
OMIM:102500	NOTCH2	4853	HP:0000293	Full cheeks
OMIM:102500	NOTCH2	4853	HP:0001007	Hirsutism
OMIM:102500	NOTCH2	4853	HP:0005463	Elongated sella turcica
OMIM:102500	NOTCH2	4853	HP:0000238	Hydrocephalus
OMIM:102500	NOTCH2	4853	HP:0003083	Dislocated radial head
OMIM:102500	NOTCH2	4853	HP:0001799	Short nail
OMIM:102500	NOTCH2	4853	HP:0002857	Genu valgum
OMIM:102500	NOTCH2	4853	HP:0006180	Crowded carpal bones
OMIM:102500	NOTCH2	4853	HP:0000938	Osteopenia
OMIM:102500	NOTCH2	4853	HP:0000574	Thick eyebrow
OMIM:102500	NOTCH2	4853	HP:0000023	Inguinal hernia
OMIM:102500	NOTCH2	4853	HP:0008462	Cervical instability
OMIM:102500	NOTCH2	4853	HP:0000463	Anteverted nares
OMIM:102500	NOTCH2	4853	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:102500	NOTCH2	4853	HP:0000369	Low-set ears
OMIM:102500	NOTCH2	4853	HP:0000664	Synophrys
OMIM:102500	NOTCH2	4853	HP:0004586	Biconcave vertebral bodies
OMIM:102500	NOTCH2	4853	HP:0000939	Osteoporosis
OMIM:102500	NOTCH2	4853	HP:0000470	Short neck
OMIM:102500	NOTCH2	4853	HP:0000107	Renal cyst
OMIM:102500	NOTCH2	4853	HP:0002688	Absent frontal sinuses
OMIM:102500	NOTCH2	4853	HP:0000047	Hypospadias
OMIM:102500	NOTCH2	4853	HP:0001388	Joint laxity
OMIM:102500	NOTCH2	4853	HP:0002751	Kyphoscoliosis
OMIM:102500	NOTCH2	4853	HP:0002645	Wormian bones
OMIM:102500	NOTCH2	4853	HP:0000028	Cryptorchidism
OMIM:102500	NOTCH2	4853	HP:0006480	Premature loss of teeth
OMIM:102500	NOTCH2	4853	HP:0004322	Short stature
OMIM:102500	NOTCH2	4853	HP:0000343	Long philtrum
OMIM:102500	NOTCH2	4853	HP:0000006	Autosomal dominant inheritance
OMIM:102500	NOTCH2	4853	HP:0000506	Telecanthus
OMIM:102500	NOTCH2	4853	HP:0001671	Abnormality of the cardiac septa
OMIM:102500	NOTCH2	4853	HP:0000527	Long eyelashes
OMIM:102500	NOTCH2	4853	HP:0001842	Foot acroosteolysis
OMIM:102500	NOTCH2	4853	HP:0002756	Pathologic fracture
OMIM:102500	NOTCH2	4853	HP:0001508	Failure to thrive
OMIM:102500	NOTCH2	4853	HP:0000218	High palate
OMIM:102500	NOTCH2	4853	HP:0000280	Coarse facial features
OMIM:102500	NOTCH2	4853	HP:0000286	Epicanthus
OMIM:102500	NOTCH2	4853	HP:0000347	Micrognathia
OMIM:604317	WDR62	284403	HP:0002282	Heterotopia
OMIM:604317	WDR62	284403	HP:0000752	Hyperactivity
OMIM:604317	WDR62	284403	HP:0002126	Polymicrogyria
OMIM:604317	WDR62	284403	HP:0000718	Aggressive behavior
OMIM:604317	WDR62	284403	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	WDR62	284403	HP:0001347	Hyperreflexia
OMIM:604317	WDR62	284403	HP:0000750	Delayed speech and language development
OMIM:604317	WDR62	284403	HP:0001302	Pachygyria
OMIM:604317	WDR62	284403	HP:0003577	Congenital onset
OMIM:604317	WDR62	284403	HP:0001285	Spastic tetraparesis
OMIM:604317	WDR62	284403	HP:0001558	Decreased fetal movement
OMIM:604317	WDR62	284403	HP:0001250	Seizures
OMIM:604317	WDR62	284403	HP:0001249	Intellectual disability
OMIM:604317	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:604317	WDR62	284403	HP:0001269	Hemiparesis
OMIM:604317	WDR62	284403	HP:0000252	Microcephaly
OMIM:604317	WDR62	284403	HP:0000340	Sloping forehead
OMIM:604317	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:604317	WDR62	284403	HP:0001263	Global developmental delay
OMIM:604317	WDR62	284403	HP:0010636	Schizencephaly
OMIM:604317	WDR62	284403	HP:0001339	Lissencephaly
OMIM:604317	WDR62	284403	HP:0100710	Impulsivity
OMIM:603554	DCLRE1C	64421	HP:0000778	Hypoplasia of the thymus
OMIM:603554	DCLRE1C	64421	HP:0001873	Thrombocytopenia
OMIM:603554	DCLRE1C	64421	HP:0004429	Recurrent viral infections
OMIM:603554	DCLRE1C	64421	HP:0010976	B lymphocytopenia
OMIM:603554	DCLRE1C	64421	HP:0001744	Splenomegaly
OMIM:603554	DCLRE1C	64421	HP:0001596	Alopecia
OMIM:603554	DCLRE1C	64421	HP:0002841	Recurrent fungal infections
OMIM:603554	DCLRE1C	64421	HP:0002014	Diarrhea
OMIM:603554	DCLRE1C	64421	HP:0000007	Autosomal recessive inheritance
OMIM:603554	DCLRE1C	64421	HP:0002716	Lymphadenopathy
OMIM:603554	DCLRE1C	64421	HP:0001508	Failure to thrive
OMIM:603554	DCLRE1C	64421	HP:0001072	Thickened skin
OMIM:603554	DCLRE1C	64421	HP:0002090	Pneumonia
OMIM:603554	DCLRE1C	64421	HP:0001903	Anemia
OMIM:603554	DCLRE1C	64421	HP:0005365	Severe B lymphocytopenia
OMIM:603554	DCLRE1C	64421	HP:0002240	Hepatomegaly
OMIM:603554	DCLRE1C	64421	HP:0001880	Eosinophilia
OMIM:603554	DCLRE1C	64421	HP:0003075	Hypoproteinemia
OMIM:603554	DCLRE1C	64421	HP:0001019	Erythroderma
OMIM:603554	DCLRE1C	64421	HP:0002718	Recurrent bacterial infections
OMIM:603554	RAG1	5896	HP:0000778	Hypoplasia of the thymus
OMIM:603554	RAG1	5896	HP:0001873	Thrombocytopenia
OMIM:603554	RAG1	5896	HP:0004429	Recurrent viral infections
OMIM:603554	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:603554	RAG1	5896	HP:0001744	Splenomegaly
OMIM:603554	RAG1	5896	HP:0001596	Alopecia
OMIM:603554	RAG1	5896	HP:0002841	Recurrent fungal infections
OMIM:603554	RAG1	5896	HP:0002014	Diarrhea
OMIM:603554	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:603554	RAG1	5896	HP:0002716	Lymphadenopathy
OMIM:603554	RAG1	5896	HP:0001508	Failure to thrive
OMIM:603554	RAG1	5896	HP:0001072	Thickened skin
OMIM:603554	RAG1	5896	HP:0002090	Pneumonia
OMIM:603554	RAG1	5896	HP:0001903	Anemia
OMIM:603554	RAG1	5896	HP:0005365	Severe B lymphocytopenia
OMIM:603554	RAG1	5896	HP:0002240	Hepatomegaly
OMIM:603554	RAG1	5896	HP:0001880	Eosinophilia
OMIM:603554	RAG1	5896	HP:0003075	Hypoproteinemia
OMIM:603554	RAG1	5896	HP:0001019	Erythroderma
OMIM:603554	RAG1	5896	HP:0002718	Recurrent bacterial infections
OMIM:603554	RAG2	5897	HP:0000778	Hypoplasia of the thymus
OMIM:603554	RAG2	5897	HP:0001873	Thrombocytopenia
OMIM:603554	RAG2	5897	HP:0004429	Recurrent viral infections
OMIM:603554	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:603554	RAG2	5897	HP:0001744	Splenomegaly
OMIM:603554	RAG2	5897	HP:0001596	Alopecia
OMIM:603554	RAG2	5897	HP:0002841	Recurrent fungal infections
OMIM:603554	RAG2	5897	HP:0002014	Diarrhea
OMIM:603554	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:603554	RAG2	5897	HP:0002716	Lymphadenopathy
OMIM:603554	RAG2	5897	HP:0001508	Failure to thrive
OMIM:603554	RAG2	5897	HP:0001072	Thickened skin
OMIM:603554	RAG2	5897	HP:0002090	Pneumonia
OMIM:603554	RAG2	5897	HP:0001903	Anemia
OMIM:603554	RAG2	5897	HP:0005365	Severe B lymphocytopenia
OMIM:603554	RAG2	5897	HP:0002240	Hepatomegaly
OMIM:603554	RAG2	5897	HP:0001880	Eosinophilia
OMIM:603554	RAG2	5897	HP:0003075	Hypoproteinemia
OMIM:603554	RAG2	5897	HP:0001019	Erythroderma
OMIM:603554	RAG2	5897	HP:0002718	Recurrent bacterial infections
OMIM:613470	GPI	2821	HP:0001251	Ataxia
OMIM:613470	GPI	2821	HP:0001324	Muscle weakness
OMIM:613470	GPI	2821	HP:0001744	Splenomegaly
OMIM:613470	GPI	2821	HP:0011981	Pigment gallstones
OMIM:613470	GPI	2821	HP:0010871	Sensory ataxia
OMIM:613470	GPI	2821	HP:0000952	Jaundice
OMIM:613470	GPI	2821	HP:0001082	Cholecystitis
OMIM:613470	GPI	2821	HP:0001249	Intellectual disability
OMIM:613470	GPI	2821	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:613470	GPI	2821	HP:0003568	Decreased glucosephosphate isomerase activity
OMIM:613470	GPI	2821	HP:0011993	Impaired neutrophil bactericidal activity
OMIM:613470	GPI	2821	HP:0000007	Autosomal recessive inheritance
OMIM:613470	GPI	2821	HP:0005525	Spontaneous hemolytic crises
ORPHA:91131	DOLK	22845	HP:0000958	Dry skin
ORPHA:91131	DOLK	22845	HP:0100578	Lipoatrophy
ORPHA:91131	DOLK	22845	HP:0001744	Splenomegaly
ORPHA:91131	DOLK	22845	HP:0003326	Myalgia
ORPHA:91131	DOLK	22845	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHA:91131	DOLK	22845	HP:0100543	Cognitive impairment
ORPHA:91131	DOLK	22845	HP:0002120	Cerebral cortical atrophy
ORPHA:91131	DOLK	22845	HP:0001928	Abnormality of coagulation
ORPHA:91131	DOLK	22845	HP:0008064	Ichthyosis
ORPHA:91131	DOLK	22845	HP:0002240	Hepatomegaly
OMIM:300653	PGK1	5230	HP:0001923	Reticulocytosis
OMIM:300653	PGK1	5230	HP:0003710	Exercise-induced muscle cramps
OMIM:300653	PGK1	5230	HP:0008305	Exercise-induced myoglobinuria
OMIM:300653	PGK1	5230	HP:0002076	Migraine
OMIM:300653	PGK1	5230	HP:0000712	Emotional lability
OMIM:300653	PGK1	5230	HP:0003201	Rhabdomyolysis
OMIM:300653	PGK1	5230	HP:0001251	Ataxia
OMIM:300653	PGK1	5230	HP:0001249	Intellectual disability
OMIM:300653	PGK1	5230	HP:0001250	Seizures
OMIM:300653	PGK1	5230	HP:0003812	Phenotypic variability
OMIM:300653	PGK1	5230	HP:0003546	Exercise intolerance
OMIM:300653	PGK1	5230	HP:0001419	X-linked recessive inheritance
OMIM:300653	PGK1	5230	HP:0000750	Delayed speech and language development
OMIM:175800	PMVK	10654	HP:0003596	Middle age onset
OMIM:175800	PMVK	10654	HP:0200044	Porokeratosis
OMIM:175800	PMVK	10654	HP:0008069	Neoplasm of the skin
OMIM:175800	PMVK	10654	HP:0000006	Autosomal dominant inheritance
OMIM:175800	PMVK	10654	HP:0003220	Abnormality of chromosome stability
OMIM:226750	ROGDI	79641	HP:0003828	Variable expressivity
OMIM:226750	ROGDI	79641	HP:0200134	Epileptic encephalopathy
OMIM:226750	ROGDI	79641	HP:0002059	Cerebral atrophy
OMIM:226750	ROGDI	79641	HP:0001257	Spasticity
OMIM:226750	ROGDI	79641	HP:0002119	Ventriculomegaly
OMIM:226750	ROGDI	79641	HP:0002521	Hypsarrhythmia
OMIM:226750	ROGDI	79641	HP:0000726	Dementia
OMIM:226750	ROGDI	79641	HP:0001251	Ataxia
OMIM:226750	ROGDI	79641	HP:0001321	Cerebellar hypoplasia
OMIM:226750	ROGDI	79641	HP:0006297	Hypoplasia of dental enamel
OMIM:226750	ROGDI	79641	HP:0010864	Intellectual disability, severe
OMIM:226750	ROGDI	79641	HP:0000007	Autosomal recessive inheritance
OMIM:226750	ROGDI	79641	HP:0001250	Seizures
OMIM:226750	ROGDI	79641	HP:0000705	Amelogenesis imperfecta
OMIM:615846	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:615846	IFIH1	64135	HP:0001285	Spastic tetraparesis
OMIM:615846	IFIH1	64135	HP:0001249	Intellectual disability
OMIM:615846	IFIH1	64135	HP:0001344	Absent speech
OMIM:615846	IFIH1	64135	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	IFIH1	64135	HP:0001047	Atopic dermatitis
OMIM:615846	IFIH1	64135	HP:0001511	Intrauterine growth retardation
OMIM:615846	IFIH1	64135	HP:0002633	Vasculitis
OMIM:615846	IFIH1	64135	HP:0001332	Dystonia
OMIM:615846	IFIH1	64135	HP:0011968	Feeding difficulties
OMIM:615846	IFIH1	64135	HP:0003828	Variable expressivity
OMIM:615846	IFIH1	64135	HP:0000737	Irritability
OMIM:615846	IFIH1	64135	HP:0003829	Incomplete penetrance
OMIM:615846	IFIH1	64135	HP:0001290	Generalized hypotonia
OMIM:615846	IFIH1	64135	HP:0002059	Cerebral atrophy
OMIM:615846	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:615846	IFIH1	64135	HP:0000006	Autosomal dominant inheritance
OMIM:616890	MAP3K20	51776	HP:0000407	Sensorineural hearing impairment
OMIM:616890	MAP3K20	51776	HP:0000007	Autosomal recessive inheritance
ORPHA:2440	BTRC	8945	HP:0006101	Finger syndactyly
ORPHA:2440	BTRC	8945	HP:0012165	Oligodactyly
ORPHA:2440	TP63	8626	HP:0006101	Finger syndactyly
ORPHA:2440	TP63	8626	HP:0012165	Oligodactyly
ORPHA:2440	DLX5	1749	HP:0006101	Finger syndactyly
ORPHA:2440	DLX5	1749	HP:0012165	Oligodactyly
ORPHA:2440	DLX6	1750	HP:0006101	Finger syndactyly
ORPHA:2440	DLX6	1750	HP:0012165	Oligodactyly
ORPHA:2440	WNT10B	7480	HP:0006101	Finger syndactyly
ORPHA:2440	WNT10B	7480	HP:0012165	Oligodactyly
ORPHA:2440	SEM1	7979	HP:0006101	Finger syndactyly
ORPHA:2440	SEM1	7979	HP:0012165	Oligodactyly
ORPHA:2021	COL11A1	1301	HP:0000944	Abnormality of the metaphysis
ORPHA:2021	COL11A1	1301	HP:0002093	Respiratory insufficiency
ORPHA:2021	COL11A1	1301	HP:0004322	Short stature
ORPHA:2021	COL11A1	1301	HP:0000364	Hearing abnormality
ORPHA:2021	COL11A1	1301	HP:0000494	Downslanted palpebral fissures
ORPHA:2021	COL11A1	1301	HP:0000882	Hypoplastic scapulae
ORPHA:2021	COL11A1	1301	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2021	COL11A1	1301	HP:0000520	Proptosis
ORPHA:2021	COL11A1	1301	HP:0000160	Narrow mouth
ORPHA:2021	COL11A1	1301	HP:0000885	Broad ribs
ORPHA:2021	COL11A1	1301	HP:0000773	Short ribs
ORPHA:2021	COL11A1	1301	HP:0000369	Low-set ears
ORPHA:2021	COL11A1	1301	HP:0000470	Short neck
ORPHA:2021	COL11A1	1301	HP:0000463	Anteverted nares
ORPHA:2021	COL11A1	1301	HP:0000260	Wide anterior fontanel
ORPHA:2021	COL11A1	1301	HP:0001804	Hypoplastic fingernail
ORPHA:2021	COL11A1	1301	HP:0001591	Bell-shaped thorax
ORPHA:2021	COL11A1	1301	HP:0001156	Brachydactyly
ORPHA:2021	COL11A1	1301	HP:0000175	Cleft palate
ORPHA:2021	COL11A1	1301	HP:0000940	Abnormal diaphysis morphology
ORPHA:2021	COL11A1	1301	HP:0000774	Narrow chest
ORPHA:2021	COL11A1	1301	HP:0005280	Depressed nasal bridge
ORPHA:2021	COL11A1	1301	HP:0000311	Round face
ORPHA:2021	COL11A2	1302	HP:0000944	Abnormality of the metaphysis
ORPHA:2021	COL11A2	1302	HP:0002093	Respiratory insufficiency
ORPHA:2021	COL11A2	1302	HP:0004322	Short stature
ORPHA:2021	COL11A2	1302	HP:0000364	Hearing abnormality
ORPHA:2021	COL11A2	1302	HP:0000494	Downslanted palpebral fissures
ORPHA:2021	COL11A2	1302	HP:0000882	Hypoplastic scapulae
ORPHA:2021	COL11A2	1302	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2021	COL11A2	1302	HP:0000520	Proptosis
ORPHA:2021	COL11A2	1302	HP:0000160	Narrow mouth
ORPHA:2021	COL11A2	1302	HP:0000885	Broad ribs
ORPHA:2021	COL11A2	1302	HP:0000773	Short ribs
ORPHA:2021	COL11A2	1302	HP:0000369	Low-set ears
ORPHA:2021	COL11A2	1302	HP:0000470	Short neck
ORPHA:2021	COL11A2	1302	HP:0000463	Anteverted nares
ORPHA:2021	COL11A2	1302	HP:0000260	Wide anterior fontanel
ORPHA:2021	COL11A2	1302	HP:0001804	Hypoplastic fingernail
ORPHA:2021	COL11A2	1302	HP:0001591	Bell-shaped thorax
ORPHA:2021	COL11A2	1302	HP:0001156	Brachydactyly
ORPHA:2021	COL11A2	1302	HP:0000175	Cleft palate
ORPHA:2021	COL11A2	1302	HP:0000940	Abnormal diaphysis morphology
ORPHA:2021	COL11A2	1302	HP:0000774	Narrow chest
ORPHA:2021	COL11A2	1302	HP:0005280	Depressed nasal bridge
ORPHA:2021	COL11A2	1302	HP:0000311	Round face
OMIM:600142	HTRA1	5654	HP:0001347	Hyperreflexia
OMIM:600142	HTRA1	5654	HP:0001288	Gait disturbance
OMIM:600142	HTRA1	5654	HP:0007204	Diffuse white matter abnormalities
OMIM:600142	HTRA1	5654	HP:0003487	Babinski sign
OMIM:600142	HTRA1	5654	HP:0001251	Ataxia
OMIM:600142	HTRA1	5654	HP:0002063	Rigidity
OMIM:600142	HTRA1	5654	HP:0000726	Dementia
OMIM:600142	HTRA1	5654	HP:0001257	Spasticity
OMIM:600142	HTRA1	5654	HP:0000020	Urinary incontinence
OMIM:600142	HTRA1	5654	HP:0007162	Diffuse demyelination of the cerebral white matter
OMIM:600142	HTRA1	5654	HP:0000007	Autosomal recessive inheritance
OMIM:600142	HTRA1	5654	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:600142	HTRA1	5654	HP:0002200	Pseudobulbar signs
OMIM:600142	HTRA1	5654	HP:0004931	Arteriosclerosis of small cerebral arteries
OMIM:600142	HTRA1	5654	HP:0002352	Leukoencephalopathy
OMIM:600142	HTRA1	5654	HP:0001596	Alopecia
OMIM:600142	HTRA1	5654	HP:0001260	Dysarthria
OMIM:600142	HTRA1	5654	HP:0003419	Low back pain
OMIM:600142	HTRA1	5654	HP:0002448	Progressive encephalopathy
OMIM:300495	NLGN4X	57502	HP:0000733	Stereotypy
OMIM:300495	NLGN4X	57502	HP:0000732	Inflexible adherence to routines or rituals
OMIM:300495	NLGN4X	57502	HP:0011463	Childhood onset
OMIM:300495	NLGN4X	57502	HP:0000717	Autism
OMIM:300495	NLGN4X	57502	HP:0000721	Lack of spontaneous play
OMIM:300495	NLGN4X	57502	HP:0000758	Impaired use of nonverbal behaviors
OMIM:300495	NLGN4X	57502	HP:0001417	X-linked inheritance
OMIM:300495	NLGN4X	57502	HP:0001425	Heterogeneous
OMIM:300495	NLGN4X	57502	HP:0000723	Restrictive behavior
OMIM:300495	NLGN4X	57502	HP:0001250	Seizures
OMIM:300495	NLGN4X	57502	HP:0003144	Increased serum serotonin
OMIM:300495	NLGN4X	57502	HP:0003745	Sporadic
OMIM:300495	NLGN4X	57502	HP:0001426	Multifactorial inheritance
OMIM:300495	NLGN4X	57502	HP:0002353	EEG abnormality
OMIM:300495	NLGN4X	57502	HP:0000750	Delayed speech and language development
OMIM:300495	NLGN4X	57502	HP:0002332	Lack of peer relationships
OMIM:300495	NLGN4X	57502	HP:0001249	Intellectual disability
OMIM:611391	BFSP1	631	HP:0000007	Autosomal recessive inheritance
OMIM:611391	BFSP1	631	HP:0100019	Cortical cataract
OMIM:611391	BFSP1	631	HP:0100018	Nuclear cataract
OMIM:611391	BFSP1	631	HP:0000006	Autosomal dominant inheritance
ORPHA:474	TTC21B	79809	HP:0001773	Short foot
ORPHA:474	TTC21B	79809	HP:0010306	Short thorax
ORPHA:474	TTC21B	79809	HP:0000889	Abnormality of the clavicle
ORPHA:474	TTC21B	79809	HP:0002983	Micromelia
ORPHA:474	TTC21B	79809	HP:0000944	Abnormality of the metaphysis
ORPHA:474	TTC21B	79809	HP:0002093	Respiratory insufficiency
ORPHA:474	TTC21B	79809	HP:0000772	Abnormality of the ribs
ORPHA:474	TTC21B	79809	HP:0001156	Brachydactyly
ORPHA:474	TTC21B	79809	HP:0000774	Narrow chest
ORPHA:474	TTC21B	79809	HP:0000766	Abnormality of the sternum
ORPHA:474	TTC21B	79809	HP:0010579	Cone-shaped epiphysis
ORPHA:474	TTC21B	79809	HP:0002652	Skeletal dysplasia
ORPHA:474	TTC21B	79809	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	WDR19	57728	HP:0001773	Short foot
ORPHA:474	WDR19	57728	HP:0010306	Short thorax
ORPHA:474	WDR19	57728	HP:0000889	Abnormality of the clavicle
ORPHA:474	WDR19	57728	HP:0002983	Micromelia
ORPHA:474	WDR19	57728	HP:0000944	Abnormality of the metaphysis
ORPHA:474	WDR19	57728	HP:0002093	Respiratory insufficiency
ORPHA:474	WDR19	57728	HP:0000772	Abnormality of the ribs
ORPHA:474	WDR19	57728	HP:0001156	Brachydactyly
ORPHA:474	WDR19	57728	HP:0000774	Narrow chest
ORPHA:474	WDR19	57728	HP:0000766	Abnormality of the sternum
ORPHA:474	WDR19	57728	HP:0010579	Cone-shaped epiphysis
ORPHA:474	WDR19	57728	HP:0002652	Skeletal dysplasia
ORPHA:474	WDR19	57728	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	IFT172	26160	HP:0001773	Short foot
ORPHA:474	IFT172	26160	HP:0010306	Short thorax
ORPHA:474	IFT172	26160	HP:0000889	Abnormality of the clavicle
ORPHA:474	IFT172	26160	HP:0002983	Micromelia
ORPHA:474	IFT172	26160	HP:0000944	Abnormality of the metaphysis
ORPHA:474	IFT172	26160	HP:0002093	Respiratory insufficiency
ORPHA:474	IFT172	26160	HP:0000772	Abnormality of the ribs
ORPHA:474	IFT172	26160	HP:0001156	Brachydactyly
ORPHA:474	IFT172	26160	HP:0000774	Narrow chest
ORPHA:474	IFT172	26160	HP:0000766	Abnormality of the sternum
ORPHA:474	IFT172	26160	HP:0010579	Cone-shaped epiphysis
ORPHA:474	IFT172	26160	HP:0002652	Skeletal dysplasia
ORPHA:474	IFT172	26160	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	WDR34	89891	HP:0001773	Short foot
ORPHA:474	WDR34	89891	HP:0010306	Short thorax
ORPHA:474	WDR34	89891	HP:0000889	Abnormality of the clavicle
ORPHA:474	WDR34	89891	HP:0002983	Micromelia
ORPHA:474	WDR34	89891	HP:0000944	Abnormality of the metaphysis
ORPHA:474	WDR34	89891	HP:0002093	Respiratory insufficiency
ORPHA:474	WDR34	89891	HP:0000772	Abnormality of the ribs
ORPHA:474	WDR34	89891	HP:0001156	Brachydactyly
ORPHA:474	WDR34	89891	HP:0000774	Narrow chest
ORPHA:474	WDR34	89891	HP:0000766	Abnormality of the sternum
ORPHA:474	WDR34	89891	HP:0010579	Cone-shaped epiphysis
ORPHA:474	WDR34	89891	HP:0002652	Skeletal dysplasia
ORPHA:474	WDR34	89891	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	IFT80	57560	HP:0001773	Short foot
ORPHA:474	IFT80	57560	HP:0010306	Short thorax
ORPHA:474	IFT80	57560	HP:0000889	Abnormality of the clavicle
ORPHA:474	IFT80	57560	HP:0002983	Micromelia
ORPHA:474	IFT80	57560	HP:0000944	Abnormality of the metaphysis
ORPHA:474	IFT80	57560	HP:0002093	Respiratory insufficiency
ORPHA:474	IFT80	57560	HP:0000772	Abnormality of the ribs
ORPHA:474	IFT80	57560	HP:0001156	Brachydactyly
ORPHA:474	IFT80	57560	HP:0000774	Narrow chest
ORPHA:474	IFT80	57560	HP:0000766	Abnormality of the sternum
ORPHA:474	IFT80	57560	HP:0010579	Cone-shaped epiphysis
ORPHA:474	IFT80	57560	HP:0002652	Skeletal dysplasia
ORPHA:474	IFT80	57560	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	WDR60	55112	HP:0001773	Short foot
ORPHA:474	WDR60	55112	HP:0010306	Short thorax
ORPHA:474	WDR60	55112	HP:0000889	Abnormality of the clavicle
ORPHA:474	WDR60	55112	HP:0002983	Micromelia
ORPHA:474	WDR60	55112	HP:0000944	Abnormality of the metaphysis
ORPHA:474	WDR60	55112	HP:0002093	Respiratory insufficiency
ORPHA:474	WDR60	55112	HP:0000772	Abnormality of the ribs
ORPHA:474	WDR60	55112	HP:0001156	Brachydactyly
ORPHA:474	WDR60	55112	HP:0000774	Narrow chest
ORPHA:474	WDR60	55112	HP:0000766	Abnormality of the sternum
ORPHA:474	WDR60	55112	HP:0010579	Cone-shaped epiphysis
ORPHA:474	WDR60	55112	HP:0002652	Skeletal dysplasia
ORPHA:474	WDR60	55112	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	DYNC2H1	79659	HP:0001773	Short foot
ORPHA:474	DYNC2H1	79659	HP:0010306	Short thorax
ORPHA:474	DYNC2H1	79659	HP:0000889	Abnormality of the clavicle
ORPHA:474	DYNC2H1	79659	HP:0002983	Micromelia
ORPHA:474	DYNC2H1	79659	HP:0000944	Abnormality of the metaphysis
ORPHA:474	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
ORPHA:474	DYNC2H1	79659	HP:0000772	Abnormality of the ribs
ORPHA:474	DYNC2H1	79659	HP:0001156	Brachydactyly
ORPHA:474	DYNC2H1	79659	HP:0000774	Narrow chest
ORPHA:474	DYNC2H1	79659	HP:0000766	Abnormality of the sternum
ORPHA:474	DYNC2H1	79659	HP:0010579	Cone-shaped epiphysis
ORPHA:474	DYNC2H1	79659	HP:0002652	Skeletal dysplasia
ORPHA:474	DYNC2H1	79659	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	DYNC2LI1	51626	HP:0001773	Short foot
ORPHA:474	DYNC2LI1	51626	HP:0010306	Short thorax
ORPHA:474	DYNC2LI1	51626	HP:0000889	Abnormality of the clavicle
ORPHA:474	DYNC2LI1	51626	HP:0002983	Micromelia
ORPHA:474	DYNC2LI1	51626	HP:0000944	Abnormality of the metaphysis
ORPHA:474	DYNC2LI1	51626	HP:0002093	Respiratory insufficiency
ORPHA:474	DYNC2LI1	51626	HP:0000772	Abnormality of the ribs
ORPHA:474	DYNC2LI1	51626	HP:0001156	Brachydactyly
ORPHA:474	DYNC2LI1	51626	HP:0000774	Narrow chest
ORPHA:474	DYNC2LI1	51626	HP:0000766	Abnormality of the sternum
ORPHA:474	DYNC2LI1	51626	HP:0010579	Cone-shaped epiphysis
ORPHA:474	DYNC2LI1	51626	HP:0002652	Skeletal dysplasia
ORPHA:474	DYNC2LI1	51626	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	CEP120	153241	HP:0001773	Short foot
ORPHA:474	CEP120	153241	HP:0010306	Short thorax
ORPHA:474	CEP120	153241	HP:0000889	Abnormality of the clavicle
ORPHA:474	CEP120	153241	HP:0002983	Micromelia
ORPHA:474	CEP120	153241	HP:0000944	Abnormality of the metaphysis
ORPHA:474	CEP120	153241	HP:0002093	Respiratory insufficiency
ORPHA:474	CEP120	153241	HP:0000772	Abnormality of the ribs
ORPHA:474	CEP120	153241	HP:0001156	Brachydactyly
ORPHA:474	CEP120	153241	HP:0000774	Narrow chest
ORPHA:474	CEP120	153241	HP:0000766	Abnormality of the sternum
ORPHA:474	CEP120	153241	HP:0010579	Cone-shaped epiphysis
ORPHA:474	CEP120	153241	HP:0002652	Skeletal dysplasia
ORPHA:474	CEP120	153241	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:474	IFT140	9742	HP:0001773	Short foot
ORPHA:474	IFT140	9742	HP:0010306	Short thorax
ORPHA:474	IFT140	9742	HP:0000889	Abnormality of the clavicle
ORPHA:474	IFT140	9742	HP:0002983	Micromelia
ORPHA:474	IFT140	9742	HP:0000944	Abnormality of the metaphysis
ORPHA:474	IFT140	9742	HP:0002093	Respiratory insufficiency
ORPHA:474	IFT140	9742	HP:0000772	Abnormality of the ribs
ORPHA:474	IFT140	9742	HP:0001156	Brachydactyly
ORPHA:474	IFT140	9742	HP:0000774	Narrow chest
ORPHA:474	IFT140	9742	HP:0000766	Abnormality of the sternum
ORPHA:474	IFT140	9742	HP:0010579	Cone-shaped epiphysis
ORPHA:474	IFT140	9742	HP:0002652	Skeletal dysplasia
ORPHA:474	IFT140	9742	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:609583	NPHP1	4867	HP:0000571	Hypometric saccades
OMIM:609583	NPHP1	4867	HP:0000657	Oculomotor apraxia
OMIM:609583	NPHP1	4867	HP:0002404	Thickened superior cerebellar peduncle
OMIM:609583	NPHP1	4867	HP:0000639	Nystagmus
OMIM:609583	NPHP1	4867	HP:0001252	Muscular hypotonia
OMIM:609583	NPHP1	4867	HP:0001251	Ataxia
OMIM:609583	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:609583	NPHP1	4867	HP:0002419	Molar tooth sign on MRI
OMIM:609583	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:609583	NPHP1	4867	HP:0001425	Heterogeneous
OMIM:609583	NPHP1	4867	HP:0002194	Delayed gross motor development
OMIM:609583	NPHP1	4867	HP:0011933	Elongated superior cerebellar peduncle
OMIM:609583	NPHP1	4867	HP:0001290	Generalized hypotonia
OMIM:609583	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:609583	NPHP1	4867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:609583	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:232700	PYGL	5836	HP:0001943	Hypoglycemia
OMIM:232700	PYGL	5836	HP:0002240	Hepatomegaly
OMIM:232700	PYGL	5836	HP:0003077	Hyperlipidemia
OMIM:232700	PYGL	5836	HP:0000007	Autosomal recessive inheritance
OMIM:232700	PYGL	5836	HP:0006568	Increased hepatic glycogen content
OMIM:232700	PYGL	5836	HP:0008897	Postnatal growth retardation
OMIM:600803	ABCB4	5244	HP:0000007	Autosomal recessive inheritance
OMIM:600803	ABCB4	5244	HP:0002910	Elevated hepatic transaminases
OMIM:600803	ABCB4	5244	HP:0003155	Elevated alkaline phosphatase
OMIM:600803	ABCB4	5244	HP:0001733	Pancreatitis
OMIM:600803	ABCB4	5244	HP:0001081	Cholelithiasis
OMIM:600803	ABCB4	5244	HP:0001082	Cholecystitis
OMIM:600803	ABCB4	5244	HP:0000006	Autosomal dominant inheritance
OMIM:600803	ABCB4	5244	HP:0001395	Hepatic fibrosis
OMIM:600803	ABCB4	5244	HP:0011980	Cholesterol gallstones
OMIM:600803	ABCB4	5244	HP:0030151	Cholangitis
ORPHA:79282	MMACHC	25974	HP:0001250	Seizures
ORPHA:79282	MMACHC	25974	HP:0000980	Pallor
ORPHA:79282	MMACHC	25974	HP:0001254	Lethargy
ORPHA:79282	MMACHC	25974	HP:0001508	Failure to thrive
ORPHA:79282	MMACHC	25974	HP:0000252	Microcephaly
ORPHA:79282	MMACHC	25974	HP:0000488	Retinopathy
ORPHA:79282	MMACHC	25974	HP:0001980	Megaloblastic bone marrow
ORPHA:79282	MMACHC	25974	HP:0012378	Fatigue
ORPHA:79282	MMACHC	25974	HP:0002039	Anorexia
ORPHA:79282	MMACHC	25974	HP:0000238	Hydrocephalus
OMIM:142690	NCSTN	23385	HP:0000987	Atypical scarring of skin
OMIM:142690	NCSTN	23385	HP:0000006	Autosomal dominant inheritance
OMIM:142690	NCSTN	23385	HP:0040154	Acne inversa
OMIM:602723	CARD14	79092	HP:0000962	Hyperkeratosis
OMIM:602723	CARD14	79092	HP:0003765	Psoriasiform dermatitis
OMIM:602723	CARD14	79092	HP:0000006	Autosomal dominant inheritance
OMIM:602723	CARD14	79092	HP:0001036	Parakeratosis
OMIM:602723	CARD14	79092	HP:0025092	Epidermal acanthosis
OMIM:116100	CRYGS	1427	HP:0010922	Membranous cataract
OMIM:116100	CRYGS	1427	HP:0000006	Autosomal dominant inheritance
ORPHA:2248	GJA1	2697	HP:0012304	Hypoplastic aortic arch
ORPHA:2248	GJA1	2697	HP:0004383	Hypoplastic left heart
ORPHA:2248	NKX2-5	1482	HP:0012304	Hypoplastic aortic arch
ORPHA:2248	NKX2-5	1482	HP:0004383	Hypoplastic left heart
OMIM:615942	METTL23	124512	HP:0003828	Variable expressivity
OMIM:615942	METTL23	124512	HP:0001249	Intellectual disability
OMIM:615942	METTL23	124512	HP:0001263	Global developmental delay
OMIM:615942	METTL23	124512	HP:0003593	Infantile onset
OMIM:615942	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:615942	METTL23	124512	HP:0100543	Cognitive impairment
OMIM:613251	MYH6	4624	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613251	MYH6	4624	HP:0000006	Autosomal dominant inheritance
ORPHA:209902	CYP7A1	1581	HP:0100514	Abnormality of vitamin E metabolism
ORPHA:209902	CYP7A1	1581	HP:0004943	Accelerated atherosclerosis
ORPHA:209902	CYP7A1	1581	HP:0012115	Hepatitis
ORPHA:209902	CYP7A1	1581	HP:0006573	Acute hepatic steatosis
ORPHA:209902	CYP7A1	1581	HP:0001513	Obesity
ORPHA:209902	CYP7A1	1581	HP:0004929	Coronary atherosclerosis
ORPHA:209902	CYP7A1	1581	HP:0012397	Aortic atherosclerosis
ORPHA:209902	CYP7A1	1581	HP:0002155	Hypertriglyceridemia
ORPHA:209902	CYP7A1	1581	HP:0011980	Cholesterol gallstones
ORPHA:209902	CYP7A1	1581	HP:0008372	Abnormality of vitamin A metabolism
ORPHA:209902	CYP7A1	1581	HP:0001396	Cholestasis
ORPHA:209902	CYP7A1	1581	HP:0003124	Hypercholesterolemia
ORPHA:209902	CYP7A1	1581	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:209902	CYP7A1	1581	HP:0001403	Macrovesicular hepatic steatosis
OMIM:613013	PHOX2B	8929	HP:0000006	Autosomal dominant inheritance
ORPHA:818	DHCR7	1717	HP:0002089	Pulmonary hypoplasia
ORPHA:818	DHCR7	1717	HP:0004422	Biparietal narrowing
ORPHA:818	DHCR7	1717	HP:0006695	Atrioventricular canal defect
ORPHA:818	DHCR7	1717	HP:0002827	Hip dislocation
ORPHA:818	DHCR7	1717	HP:0001561	Polyhydramnios
ORPHA:818	DHCR7	1717	HP:0100716	Self-injurious behavior
ORPHA:818	DHCR7	1717	HP:0001162	Postaxial hand polydactyly
ORPHA:818	DHCR7	1717	HP:0000212	Gingival overgrowth
ORPHA:818	DHCR7	1717	HP:0001263	Global developmental delay
ORPHA:818	DHCR7	1717	HP:0002719	Recurrent infections
ORPHA:818	DHCR7	1717	HP:0001629	Ventricular septal defect
ORPHA:818	DHCR7	1717	HP:0002101	Abnormal lung lobation
ORPHA:818	DHCR7	1717	HP:0000508	Ptosis
ORPHA:818	DHCR7	1717	HP:0009623	Proximal placement of thumb
ORPHA:818	DHCR7	1717	HP:0010880	Increased nuchal translucency
ORPHA:818	DHCR7	1717	HP:0000463	Anteverted nares
ORPHA:818	DHCR7	1717	HP:0001830	Postaxial foot polydactyly
ORPHA:818	DHCR7	1717	HP:0008665	Clitoral hypertrophy
ORPHA:818	DHCR7	1717	HP:0000154	Wide mouth
ORPHA:818	DHCR7	1717	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:818	DHCR7	1717	HP:0000992	Cutaneous photosensitivity
ORPHA:818	DHCR7	1717	HP:0002777	Tracheal stenosis
ORPHA:818	DHCR7	1717	HP:0000431	Wide nasal bridge
ORPHA:818	DHCR7	1717	HP:0000343	Long philtrum
ORPHA:818	DHCR7	1717	HP:0001631	Atrial septal defect
ORPHA:818	DHCR7	1717	HP:0000047	Hypospadias
ORPHA:818	DHCR7	1717	HP:0002020	Gastroesophageal reflux
ORPHA:818	DHCR7	1717	HP:0008736	Hypoplasia of penis
ORPHA:818	DHCR7	1717	HP:0000996	Facial capillary hemangioma
ORPHA:818	DHCR7	1717	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:818	DHCR7	1717	HP:0000717	Autism
ORPHA:818	DHCR7	1717	HP:0000965	Cutis marmorata
ORPHA:818	DHCR7	1717	HP:0008872	Feeding difficulties in infancy
ORPHA:818	DHCR7	1717	HP:0002119	Ventriculomegaly
ORPHA:818	DHCR7	1717	HP:0006610	Wide intermamillary distance
ORPHA:818	DHCR7	1717	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:818	DHCR7	1717	HP:0000347	Micrognathia
ORPHA:818	DHCR7	1717	HP:0004691	2-3 toe syndactyly
ORPHA:818	DHCR7	1717	HP:0007477	Abnormal dermatoglyphics
ORPHA:818	DHCR7	1717	HP:0000028	Cryptorchidism
ORPHA:818	DHCR7	1717	HP:0000470	Short neck
ORPHA:818	DHCR7	1717	HP:0000175	Cleft palate
ORPHA:818	DHCR7	1717	HP:0001600	Abnormality of the larynx
ORPHA:818	DHCR7	1717	HP:0001249	Intellectual disability
ORPHA:818	DHCR7	1717	HP:0001163	Abnormality of the metacarpal bones
ORPHA:818	DHCR7	1717	HP:0010569	Elevated 7-dehydrocholesterol
ORPHA:818	DHCR7	1717	HP:0000062	Ambiguous genitalia
ORPHA:818	DHCR7	1717	HP:0000252	Microcephaly
ORPHA:818	DHCR7	1717	HP:0001262	Excessive daytime somnolence
ORPHA:818	DHCR7	1717	HP:0001252	Muscular hypotonia
ORPHA:818	DHCR7	1717	HP:0006482	Abnormality of dental morphology
ORPHA:818	DHCR7	1717	HP:0001511	Intrauterine growth retardation
OMIM:617162	GRIN2D	2906	HP:0001250	Seizures
OMIM:617162	GRIN2D	2906	HP:0011968	Feeding difficulties
OMIM:617162	GRIN2D	2906	HP:0000252	Microcephaly
OMIM:617162	GRIN2D	2906	HP:0008936	Muscular hypotonia of the trunk
OMIM:617162	GRIN2D	2906	HP:0000006	Autosomal dominant inheritance
OMIM:617162	GRIN2D	2906	HP:0003593	Infantile onset
OMIM:617162	GRIN2D	2906	HP:0100704	Cortical visual impairment
OMIM:617162	GRIN2D	2906	HP:0001763	Pes planus
OMIM:617162	GRIN2D	2906	HP:0002521	Hypsarrhythmia
OMIM:617162	GRIN2D	2906	HP:0001263	Global developmental delay
OMIM:617162	GRIN2D	2906	HP:0200134	Epileptic encephalopathy
OMIM:617162	GRIN2D	2906	HP:0001508	Failure to thrive
OMIM:617162	GRIN2D	2906	HP:0002015	Dysphagia
OMIM:609535	CYP2C19	1557	HP:0000007	Autosomal recessive inheritance
ORPHA:635	PHOX2B	8929	HP:0004375	Neoplasm of the nervous system
ORPHA:635	PHOX2B	8929	HP:0011976	Elevated urinary catecholamines
ORPHA:635	TOP2A	7153	HP:0004375	Neoplasm of the nervous system
ORPHA:635	TOP2A	7153	HP:0011976	Elevated urinary catecholamines
ORPHA:635	LMO1	4004	HP:0004375	Neoplasm of the nervous system
ORPHA:635	LMO1	4004	HP:0011976	Elevated urinary catecholamines
ORPHA:635	MYCN	4613	HP:0004375	Neoplasm of the nervous system
ORPHA:635	MYCN	4613	HP:0011976	Elevated urinary catecholamines
ORPHA:635	LIN28B	389421	HP:0004375	Neoplasm of the nervous system
ORPHA:635	LIN28B	389421	HP:0011976	Elevated urinary catecholamines
ORPHA:635	HACE1	57531	HP:0004375	Neoplasm of the nervous system
ORPHA:635	HACE1	57531	HP:0011976	Elevated urinary catecholamines
ORPHA:635	ALK	238	HP:0004375	Neoplasm of the nervous system
ORPHA:635	ALK	238	HP:0011976	Elevated urinary catecholamines
OMIM:616501	COA6	388753	HP:0000331	Short chin
OMIM:616501	COA6	388753	HP:0000007	Autosomal recessive inheritance
OMIM:616501	COA6	388753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	COA6	388753	HP:0003128	Lactic acidosis
OMIM:616501	COA6	388753	HP:0001252	Muscular hypotonia
OMIM:616501	COA6	388753	HP:0030682	Left ventricular noncompaction
ORPHA:2612	HRAS	3265	HP:0000324	Facial asymmetry
ORPHA:2612	HRAS	3265	HP:0001249	Intellectual disability
ORPHA:2612	HRAS	3265	HP:0002007	Frontal bossing
ORPHA:2612	HRAS	3265	HP:0000506	Telecanthus
ORPHA:2612	HRAS	3265	HP:0000995	Melanocytic nevus
ORPHA:2612	HRAS	3265	HP:0001250	Seizures
ORPHA:2612	HRAS	3265	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2612	HRAS	3265	HP:0003422	Vertebral segmentation defect
ORPHA:2612	HRAS	3265	HP:0001357	Plagiocephaly
ORPHA:2612	HRAS	3265	HP:0002132	Porencephalic cyst
ORPHA:2612	HRAS	3265	HP:0009720	Adenoma sebaceum
ORPHA:2612	HRAS	3265	HP:0001596	Alopecia
ORPHA:2612	HRAS	3265	HP:0001347	Hyperreflexia
ORPHA:2612	HRAS	3265	HP:0000612	Iris coloboma
ORPHA:2612	HRAS	3265	HP:0000568	Microphthalmia
ORPHA:2612	HRAS	3265	HP:0001048	Cavernous hemangioma
ORPHA:2612	HRAS	3265	HP:0002353	EEG abnormality
ORPHA:2612	HRAS	3265	HP:0007400	Irregular hyperpigmentation
ORPHA:2612	HRAS	3265	HP:0000269	Prominent occiput
ORPHA:2612	HRAS	3265	HP:0001252	Muscular hypotonia
ORPHA:2612	HRAS	3265	HP:0001315	Reduced tendon reflexes
ORPHA:2612	HRAS	3265	HP:0000504	Abnormality of vision
ORPHA:2612	HRAS	3265	HP:0100555	Asymmetric growth
ORPHA:2612	HRAS	3265	HP:0002816	Genu recurvatum
ORPHA:2612	HRAS	3265	HP:0004422	Biparietal narrowing
ORPHA:2612	KRAS	3845	HP:0000324	Facial asymmetry
ORPHA:2612	KRAS	3845	HP:0001249	Intellectual disability
ORPHA:2612	KRAS	3845	HP:0002007	Frontal bossing
ORPHA:2612	KRAS	3845	HP:0000506	Telecanthus
ORPHA:2612	KRAS	3845	HP:0000995	Melanocytic nevus
ORPHA:2612	KRAS	3845	HP:0001250	Seizures
ORPHA:2612	KRAS	3845	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2612	KRAS	3845	HP:0003422	Vertebral segmentation defect
ORPHA:2612	KRAS	3845	HP:0001357	Plagiocephaly
ORPHA:2612	KRAS	3845	HP:0002132	Porencephalic cyst
ORPHA:2612	KRAS	3845	HP:0009720	Adenoma sebaceum
ORPHA:2612	KRAS	3845	HP:0001596	Alopecia
ORPHA:2612	KRAS	3845	HP:0001347	Hyperreflexia
ORPHA:2612	KRAS	3845	HP:0000612	Iris coloboma
ORPHA:2612	KRAS	3845	HP:0000568	Microphthalmia
ORPHA:2612	KRAS	3845	HP:0001048	Cavernous hemangioma
ORPHA:2612	KRAS	3845	HP:0002353	EEG abnormality
ORPHA:2612	KRAS	3845	HP:0007400	Irregular hyperpigmentation
ORPHA:2612	KRAS	3845	HP:0000269	Prominent occiput
ORPHA:2612	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHA:2612	KRAS	3845	HP:0001315	Reduced tendon reflexes
ORPHA:2612	KRAS	3845	HP:0000504	Abnormality of vision
ORPHA:2612	KRAS	3845	HP:0100555	Asymmetric growth
ORPHA:2612	KRAS	3845	HP:0002816	Genu recurvatum
ORPHA:2612	KRAS	3845	HP:0004422	Biparietal narrowing
ORPHA:2612	NRAS	4893	HP:0000324	Facial asymmetry
ORPHA:2612	NRAS	4893	HP:0001249	Intellectual disability
ORPHA:2612	NRAS	4893	HP:0002007	Frontal bossing
ORPHA:2612	NRAS	4893	HP:0000506	Telecanthus
ORPHA:2612	NRAS	4893	HP:0000995	Melanocytic nevus
ORPHA:2612	NRAS	4893	HP:0001250	Seizures
ORPHA:2612	NRAS	4893	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2612	NRAS	4893	HP:0003422	Vertebral segmentation defect
ORPHA:2612	NRAS	4893	HP:0001357	Plagiocephaly
ORPHA:2612	NRAS	4893	HP:0002132	Porencephalic cyst
ORPHA:2612	NRAS	4893	HP:0009720	Adenoma sebaceum
ORPHA:2612	NRAS	4893	HP:0001596	Alopecia
ORPHA:2612	NRAS	4893	HP:0001347	Hyperreflexia
ORPHA:2612	NRAS	4893	HP:0000612	Iris coloboma
ORPHA:2612	NRAS	4893	HP:0000568	Microphthalmia
ORPHA:2612	NRAS	4893	HP:0001048	Cavernous hemangioma
ORPHA:2612	NRAS	4893	HP:0002353	EEG abnormality
ORPHA:2612	NRAS	4893	HP:0007400	Irregular hyperpigmentation
ORPHA:2612	NRAS	4893	HP:0000269	Prominent occiput
ORPHA:2612	NRAS	4893	HP:0001252	Muscular hypotonia
ORPHA:2612	NRAS	4893	HP:0001315	Reduced tendon reflexes
ORPHA:2612	NRAS	4893	HP:0000504	Abnormality of vision
ORPHA:2612	NRAS	4893	HP:0100555	Asymmetric growth
ORPHA:2612	NRAS	4893	HP:0002816	Genu recurvatum
ORPHA:2612	NRAS	4893	HP:0004422	Biparietal narrowing
OMIM:615219	MPDZ	8777	HP:0001250	Seizures
OMIM:615219	MPDZ	8777	HP:0009879	Cortical gyral simplification
OMIM:615219	MPDZ	8777	HP:0000007	Autosomal recessive inheritance
OMIM:615219	MPDZ	8777	HP:0001249	Intellectual disability
OMIM:615219	MPDZ	8777	HP:0001334	Communicating hydrocephalus
OMIM:615219	MPDZ	8777	HP:0003577	Congenital onset
OMIM:615219	MPDZ	8777	HP:0000256	Macrocephaly
ORPHA:2971	ACOX1	51	HP:0001347	Hyperreflexia
ORPHA:2971	ACOX1	51	HP:0001508	Failure to thrive
ORPHA:2971	ACOX1	51	HP:0000316	Hypertelorism
ORPHA:2971	ACOX1	51	HP:0000369	Low-set ears
ORPHA:2971	ACOX1	51	HP:0002376	Developmental regression
ORPHA:2971	ACOX1	51	HP:0000545	Myopia
ORPHA:2971	ACOX1	51	HP:0002353	EEG abnormality
ORPHA:2971	ACOX1	51	HP:0000407	Sensorineural hearing impairment
ORPHA:2971	ACOX1	51	HP:0001250	Seizures
ORPHA:2971	ACOX1	51	HP:0012639	Abnormality of nervous system morphology
ORPHA:2971	ACOX1	51	HP:0000286	Epicanthus
ORPHA:2971	ACOX1	51	HP:0000648	Optic atrophy
ORPHA:2971	ACOX1	51	HP:0000639	Nystagmus
ORPHA:2971	ACOX1	51	HP:0001252	Muscular hypotonia
ORPHA:2971	ACOX1	51	HP:0000668	Hypodontia
ORPHA:2971	ACOX1	51	HP:0002093	Respiratory insufficiency
ORPHA:2971	ACOX1	51	HP:0000486	Strabismus
ORPHA:2971	ACOX1	51	HP:0005280	Depressed nasal bridge
ORPHA:2971	ACOX1	51	HP:0000512	Abnormal electroretinogram
ORPHA:2971	ACOX1	51	HP:0002167	Neurological speech impairment
ORPHA:2971	ACOX1	51	HP:0010864	Intellectual disability, severe
ORPHA:2971	ACOX1	51	HP:0002240	Hepatomegaly
ORPHA:2971	ACOX1	51	HP:0001288	Gait disturbance
ORPHA:2971	ACOX1	51	HP:0000649	Abnormality of visual evoked potentials
ORPHA:2971	ACOX1	51	HP:0001522	Death in infancy
ORPHA:2971	ACOX1	51	HP:0001263	Global developmental delay
ORPHA:2971	ACOX1	51	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:251255	RBBP8	5932	HP:0004220	Short middle phalanx of the 5th finger
OMIM:251255	RBBP8	5932	HP:0001822	Hallux valgus
OMIM:251255	RBBP8	5932	HP:0004692	4-5 toe syndactyly
OMIM:251255	RBBP8	5932	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:251255	RBBP8	5932	HP:0000448	Prominent nose
OMIM:251255	RBBP8	5932	HP:0000718	Aggressive behavior
OMIM:251255	RBBP8	5932	HP:0011451	Congenital microcephaly
OMIM:251255	RBBP8	5932	HP:0002943	Thoracic scoliosis
OMIM:251255	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:251255	RBBP8	5932	HP:0000278	Retrognathia
OMIM:251255	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:251255	RBBP8	5932	HP:0005780	Absent fourth finger distal interphalangeal crease
OMIM:609161	PDE8B	8622	HP:0001260	Dysarthria
OMIM:609161	PDE8B	8622	HP:0002067	Bradykinesia
OMIM:609161	PDE8B	8622	HP:0002395	Lower limb hyperreflexia
OMIM:609161	PDE8B	8622	HP:0007039	Symmetric lesions of the basal ganglia
OMIM:609161	PDE8B	8622	HP:0002375	Hypokinesia
OMIM:609161	PDE8B	8622	HP:0003677	Slow progression
OMIM:609161	PDE8B	8622	HP:0002075	Dysdiadochokinesis
OMIM:609161	PDE8B	8622	HP:0040140	Degeneration of the striatum
OMIM:609161	PDE8B	8622	HP:0001288	Gait disturbance
OMIM:609161	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:609161	PDE8B	8622	HP:0002063	Rigidity
OMIM:615330	IBA57	200205	HP:0002059	Cerebral atrophy
OMIM:615330	IBA57	200205	HP:0006610	Wide intermamillary distance
OMIM:615330	IBA57	200205	HP:0003128	Lactic acidosis
OMIM:615330	IBA57	200205	HP:0006829	Severe muscular hypotonia
OMIM:615330	IBA57	200205	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615330	IBA57	200205	HP:0000278	Retrognathia
OMIM:615330	IBA57	200205	HP:0000007	Autosomal recessive inheritance
OMIM:615330	IBA57	200205	HP:0002126	Polymicrogyria
OMIM:615330	IBA57	200205	HP:0000218	High palate
OMIM:615330	IBA57	200205	HP:0000252	Microcephaly
OMIM:615330	IBA57	200205	HP:0001298	Encephalopathy
OMIM:615330	IBA57	200205	HP:0001511	Intrauterine growth retardation
OMIM:615330	IBA57	200205	HP:0003577	Congenital onset
OMIM:615330	IBA57	200205	HP:0001561	Polyhydramnios
OMIM:615330	IBA57	200205	HP:0001942	Metabolic acidosis
OMIM:615330	IBA57	200205	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615330	IBA57	200205	HP:0002804	Arthrogryposis multiplex congenita
OMIM:160980	PRKAR1A	5573	HP:0008225	Thyroid follicular hyperplasia
OMIM:160980	PRKAR1A	5573	HP:0002297	Red hair
OMIM:160980	PRKAR1A	5573	HP:0001007	Hirsutism
OMIM:160980	PRKAR1A	5573	HP:0001425	Heterogeneous
OMIM:160980	PRKAR1A	5573	HP:0001480	Freckling
OMIM:160980	PRKAR1A	5573	HP:0000845	Growth hormone excess
OMIM:160980	PRKAR1A	5573	HP:0001635	Congestive heart failure
OMIM:160980	PRKAR1A	5573	HP:0000478	Abnormality of the eye
OMIM:160980	PRKAR1A	5573	HP:0002890	Thyroid carcinoma
OMIM:160980	PRKAR1A	5573	HP:0006769	Myxoid subcutaneous tumors
OMIM:160980	PRKAR1A	5573	HP:0005587	Profuse pigmented skin lesions
OMIM:160980	PRKAR1A	5573	HP:0002893	Pituitary adenoma
OMIM:160980	PRKAR1A	5573	HP:0100008	Schwannoma
OMIM:160980	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:160980	PRKAR1A	5573	HP:0002666	Pheochromocytoma
OMIM:160980	PRKAR1A	5573	HP:0003764	Nevus
ORPHA:893	WT1	7490	HP:0000364	Hearing abnormality
ORPHA:893	WT1	7490	HP:0000252	Microcephaly
ORPHA:893	WT1	7490	HP:0000232	Everted lower lip vermilion
ORPHA:893	WT1	7490	HP:0000347	Micrognathia
ORPHA:893	WT1	7490	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:893	WT1	7490	HP:0100627	Displacement of the external urethral meatus
ORPHA:893	WT1	7490	HP:0000639	Nystagmus
ORPHA:893	WT1	7490	HP:0000508	Ptosis
ORPHA:893	WT1	7490	HP:0000028	Cryptorchidism
ORPHA:893	WT1	7490	HP:0004322	Short stature
ORPHA:893	WT1	7490	HP:0000518	Cataract
ORPHA:893	WT1	7490	HP:0001249	Intellectual disability
ORPHA:893	WT1	7490	HP:0000505	Visual impairment
ORPHA:893	BDNF	627	HP:0000364	Hearing abnormality
ORPHA:893	BDNF	627	HP:0000252	Microcephaly
ORPHA:893	BDNF	627	HP:0000232	Everted lower lip vermilion
ORPHA:893	BDNF	627	HP:0000347	Micrognathia
ORPHA:893	BDNF	627	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:893	BDNF	627	HP:0100627	Displacement of the external urethral meatus
ORPHA:893	BDNF	627	HP:0000639	Nystagmus
ORPHA:893	BDNF	627	HP:0000508	Ptosis
ORPHA:893	BDNF	627	HP:0000028	Cryptorchidism
ORPHA:893	BDNF	627	HP:0004322	Short stature
ORPHA:893	BDNF	627	HP:0000518	Cataract
ORPHA:893	BDNF	627	HP:0001249	Intellectual disability
ORPHA:893	BDNF	627	HP:0000505	Visual impairment
ORPHA:893	PAX6	5080	HP:0000364	Hearing abnormality
ORPHA:893	PAX6	5080	HP:0000252	Microcephaly
ORPHA:893	PAX6	5080	HP:0000232	Everted lower lip vermilion
ORPHA:893	PAX6	5080	HP:0000347	Micrognathia
ORPHA:893	PAX6	5080	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:893	PAX6	5080	HP:0100627	Displacement of the external urethral meatus
ORPHA:893	PAX6	5080	HP:0000639	Nystagmus
ORPHA:893	PAX6	5080	HP:0000508	Ptosis
ORPHA:893	PAX6	5080	HP:0000028	Cryptorchidism
ORPHA:893	PAX6	5080	HP:0004322	Short stature
ORPHA:893	PAX6	5080	HP:0000518	Cataract
ORPHA:893	PAX6	5080	HP:0001249	Intellectual disability
ORPHA:893	PAX6	5080	HP:0000505	Visual impairment
ORPHA:220295	ERCC2	2068	HP:0001263	Global developmental delay
ORPHA:220295	ERCC2	2068	HP:0000639	Nystagmus
ORPHA:220295	ERCC2	2068	HP:0007108	Demyelinating peripheral neuropathy
ORPHA:220295	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
ORPHA:220295	ERCC2	2068	HP:0007495	Prematurely aged appearance
ORPHA:220295	ERCC2	2068	HP:0001025	Urticaria
ORPHA:220295	ERCC2	2068	HP:0000648	Optic atrophy
ORPHA:220295	ERCC2	2068	HP:0001260	Dysarthria
ORPHA:220295	ERCC2	2068	HP:0004334	Dermal atrophy
ORPHA:220295	ERCC2	2068	HP:0000988	Skin rash
ORPHA:220295	ERCC2	2068	HP:0000958	Dry skin
ORPHA:220295	ERCC2	2068	HP:0000252	Microcephaly
ORPHA:220295	ERCC2	2068	HP:0004337	Abnormality of amino acid metabolism
ORPHA:220295	ERCC2	2068	HP:0002861	Melanoma
ORPHA:220295	ERCC2	2068	HP:0000365	Hearing impairment
ORPHA:220295	ERCC2	2068	HP:0000651	Diplopia
ORPHA:220295	ERCC2	2068	HP:0001257	Spasticity
ORPHA:220295	ERCC2	2068	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:220295	ERCC2	2068	HP:0000238	Hydrocephalus
ORPHA:220295	ERCC2	2068	HP:0002634	Arteriosclerosis
ORPHA:220295	ERCC2	2068	HP:0002671	Basal cell carcinoma
ORPHA:220295	ERCC2	2068	HP:0007587	Numerous pigmented freckles
ORPHA:220295	ERCC2	2068	HP:0004326	Cachexia
ORPHA:220295	ERCC2	2068	HP:0004322	Short stature
ORPHA:220295	ERCC2	2068	HP:0001251	Ataxia
ORPHA:220295	ERCC2	2068	HP:0001249	Intellectual disability
ORPHA:220295	ERCC2	2068	HP:0001289	Confusion
ORPHA:220295	ERCC2	2068	HP:0001029	Poikiloderma
ORPHA:220295	ERCC2	2068	HP:0000488	Retinopathy
ORPHA:220295	ERCC3	2071	HP:0001263	Global developmental delay
ORPHA:220295	ERCC3	2071	HP:0000639	Nystagmus
ORPHA:220295	ERCC3	2071	HP:0007108	Demyelinating peripheral neuropathy
ORPHA:220295	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
ORPHA:220295	ERCC3	2071	HP:0007495	Prematurely aged appearance
ORPHA:220295	ERCC3	2071	HP:0001025	Urticaria
ORPHA:220295	ERCC3	2071	HP:0000648	Optic atrophy
ORPHA:220295	ERCC3	2071	HP:0001260	Dysarthria
ORPHA:220295	ERCC3	2071	HP:0004334	Dermal atrophy
ORPHA:220295	ERCC3	2071	HP:0000988	Skin rash
ORPHA:220295	ERCC3	2071	HP:0000958	Dry skin
ORPHA:220295	ERCC3	2071	HP:0000252	Microcephaly
ORPHA:220295	ERCC3	2071	HP:0004337	Abnormality of amino acid metabolism
ORPHA:220295	ERCC3	2071	HP:0002861	Melanoma
ORPHA:220295	ERCC3	2071	HP:0000365	Hearing impairment
ORPHA:220295	ERCC3	2071	HP:0000651	Diplopia
ORPHA:220295	ERCC3	2071	HP:0001257	Spasticity
ORPHA:220295	ERCC3	2071	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:220295	ERCC3	2071	HP:0000238	Hydrocephalus
ORPHA:220295	ERCC3	2071	HP:0002634	Arteriosclerosis
ORPHA:220295	ERCC3	2071	HP:0002671	Basal cell carcinoma
ORPHA:220295	ERCC3	2071	HP:0007587	Numerous pigmented freckles
ORPHA:220295	ERCC3	2071	HP:0004326	Cachexia
ORPHA:220295	ERCC3	2071	HP:0004322	Short stature
ORPHA:220295	ERCC3	2071	HP:0001251	Ataxia
ORPHA:220295	ERCC3	2071	HP:0001249	Intellectual disability
ORPHA:220295	ERCC3	2071	HP:0001289	Confusion
ORPHA:220295	ERCC3	2071	HP:0001029	Poikiloderma
ORPHA:220295	ERCC3	2071	HP:0000488	Retinopathy
ORPHA:220295	ERCC4	2072	HP:0001263	Global developmental delay
ORPHA:220295	ERCC4	2072	HP:0000639	Nystagmus
ORPHA:220295	ERCC4	2072	HP:0007108	Demyelinating peripheral neuropathy
ORPHA:220295	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
ORPHA:220295	ERCC4	2072	HP:0007495	Prematurely aged appearance
ORPHA:220295	ERCC4	2072	HP:0001025	Urticaria
ORPHA:220295	ERCC4	2072	HP:0000648	Optic atrophy
ORPHA:220295	ERCC4	2072	HP:0001260	Dysarthria
ORPHA:220295	ERCC4	2072	HP:0004334	Dermal atrophy
ORPHA:220295	ERCC4	2072	HP:0000988	Skin rash
ORPHA:220295	ERCC4	2072	HP:0000958	Dry skin
ORPHA:220295	ERCC4	2072	HP:0000252	Microcephaly
ORPHA:220295	ERCC4	2072	HP:0004337	Abnormality of amino acid metabolism
ORPHA:220295	ERCC4	2072	HP:0002861	Melanoma
ORPHA:220295	ERCC4	2072	HP:0000365	Hearing impairment
ORPHA:220295	ERCC4	2072	HP:0000651	Diplopia
ORPHA:220295	ERCC4	2072	HP:0001257	Spasticity
ORPHA:220295	ERCC4	2072	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:220295	ERCC4	2072	HP:0000238	Hydrocephalus
ORPHA:220295	ERCC4	2072	HP:0002634	Arteriosclerosis
ORPHA:220295	ERCC4	2072	HP:0002671	Basal cell carcinoma
ORPHA:220295	ERCC4	2072	HP:0007587	Numerous pigmented freckles
ORPHA:220295	ERCC4	2072	HP:0004326	Cachexia
ORPHA:220295	ERCC4	2072	HP:0004322	Short stature
ORPHA:220295	ERCC4	2072	HP:0001251	Ataxia
ORPHA:220295	ERCC4	2072	HP:0001249	Intellectual disability
ORPHA:220295	ERCC4	2072	HP:0001289	Confusion
ORPHA:220295	ERCC4	2072	HP:0001029	Poikiloderma
ORPHA:220295	ERCC4	2072	HP:0000488	Retinopathy
ORPHA:220295	ERCC5	2073	HP:0001263	Global developmental delay
ORPHA:220295	ERCC5	2073	HP:0000639	Nystagmus
ORPHA:220295	ERCC5	2073	HP:0007108	Demyelinating peripheral neuropathy
ORPHA:220295	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
ORPHA:220295	ERCC5	2073	HP:0007495	Prematurely aged appearance
ORPHA:220295	ERCC5	2073	HP:0001025	Urticaria
ORPHA:220295	ERCC5	2073	HP:0000648	Optic atrophy
ORPHA:220295	ERCC5	2073	HP:0001260	Dysarthria
ORPHA:220295	ERCC5	2073	HP:0004334	Dermal atrophy
ORPHA:220295	ERCC5	2073	HP:0000988	Skin rash
ORPHA:220295	ERCC5	2073	HP:0000958	Dry skin
ORPHA:220295	ERCC5	2073	HP:0000252	Microcephaly
ORPHA:220295	ERCC5	2073	HP:0004337	Abnormality of amino acid metabolism
ORPHA:220295	ERCC5	2073	HP:0002861	Melanoma
ORPHA:220295	ERCC5	2073	HP:0000365	Hearing impairment
ORPHA:220295	ERCC5	2073	HP:0000651	Diplopia
ORPHA:220295	ERCC5	2073	HP:0001257	Spasticity
ORPHA:220295	ERCC5	2073	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:220295	ERCC5	2073	HP:0000238	Hydrocephalus
ORPHA:220295	ERCC5	2073	HP:0002634	Arteriosclerosis
ORPHA:220295	ERCC5	2073	HP:0002671	Basal cell carcinoma
ORPHA:220295	ERCC5	2073	HP:0007587	Numerous pigmented freckles
ORPHA:220295	ERCC5	2073	HP:0004326	Cachexia
ORPHA:220295	ERCC5	2073	HP:0004322	Short stature
ORPHA:220295	ERCC5	2073	HP:0001251	Ataxia
ORPHA:220295	ERCC5	2073	HP:0001249	Intellectual disability
ORPHA:220295	ERCC5	2073	HP:0001289	Confusion
ORPHA:220295	ERCC5	2073	HP:0001029	Poikiloderma
ORPHA:220295	ERCC5	2073	HP:0000488	Retinopathy
OMIM:613155	POMT1	10585	HP:0002280	Enlarged cisterna magna
OMIM:613155	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:613155	POMT1	10585	HP:0003593	Infantile onset
OMIM:613155	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	POMT1	10585	HP:0001263	Global developmental delay
OMIM:613155	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613155	POMT1	10585	HP:0000252	Microcephaly
OMIM:613155	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:613155	POMT1	10585	HP:0010628	Facial palsy
OMIM:613155	POMT1	10585	HP:0001371	Flexion contracture
OMIM:613155	POMT1	10585	HP:0001344	Absent speech
OMIM:613155	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:613155	POMT1	10585	HP:0000158	Macroglossia
OMIM:613155	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613155	POMT1	10585	HP:0002540	Inability to walk
OMIM:605373	SDHC	6391	HP:0001609	Hoarse voice
OMIM:605373	SDHC	6391	HP:0003001	Glomus jugular tumor
OMIM:605373	SDHC	6391	HP:0001962	Palpitations
OMIM:605373	SDHC	6391	HP:0006824	Cranial nerve paralysis
OMIM:605373	SDHC	6391	HP:0002331	Recurrent paroxysmal headache
OMIM:605373	SDHC	6391	HP:0008629	Pulsatile tinnitus
OMIM:605373	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHC	6391	HP:0001686	Loss of voice
OMIM:605373	SDHC	6391	HP:0003334	Elevated circulating catecholamine level
OMIM:605373	SDHC	6391	HP:0006748	Adrenal pheochromocytoma
OMIM:605373	SDHC	6391	HP:0001605	Vocal cord paralysis
OMIM:605373	SDHC	6391	HP:0030074	Chemodectoma
OMIM:605373	SDHC	6391	HP:0001649	Tachycardia
OMIM:605373	SDHC	6391	HP:0003581	Adult onset
OMIM:605373	SDHC	6391	HP:0000975	Hyperhidrosis
OMIM:605373	SDHC	6391	HP:0002640	Hypertension associated with pheochromocytoma
OMIM:605373	SDHC	6391	HP:0006737	Extraadrenal pheochromocytoma
OMIM:605373	SDHC	6391	HP:0000740	Episodic paroxysmal anxiety
ORPHA:79411	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:79411	COL7A1	1294	HP:0200097	Oral mucosal blisters
ORPHA:79411	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:79411	COL7A1	1294	HP:0001056	Milia
ORPHA:79411	COL7A1	1294	HP:0001053	Hypopigmented skin patches
OMIM:300577	ZDHHC15	158866	HP:0006829	Severe muscular hypotonia
OMIM:300577	ZDHHC15	158866	HP:0001513	Obesity
OMIM:300577	ZDHHC15	158866	HP:0001344	Absent speech
OMIM:300577	ZDHHC15	158866	HP:0002162	Low posterior hairline
OMIM:300577	ZDHHC15	158866	HP:0003196	Short nose
OMIM:300577	ZDHHC15	158866	HP:0001250	Seizures
OMIM:300577	ZDHHC15	158866	HP:0001999	Abnormal facial shape
OMIM:300577	ZDHHC15	158866	HP:0009237	Short 5th finger
OMIM:300577	ZDHHC15	158866	HP:0000218	High palate
OMIM:300577	ZDHHC15	158866	HP:0000286	Epicanthus
OMIM:300577	ZDHHC15	158866	HP:0001256	Intellectual disability, mild
OMIM:300577	ZDHHC15	158866	HP:0001417	X-linked inheritance
OMIM:300577	ZDHHC15	158866	HP:0002967	Cubitus valgus
OMIM:300577	ZDHHC15	158866	HP:0001263	Global developmental delay
OMIM:300577	ZDHHC15	158866	HP:0001773	Short foot
OMIM:300577	ZDHHC15	158866	HP:0001572	Macrodontia
OMIM:300577	ZDHHC15	158866	HP:0001423	X-linked dominant inheritance
OMIM:300577	ZDHHC15	158866	HP:0200055	Small hand
OMIM:616098	BCL10	8915	HP:0004313	Decreased antibody level in blood
OMIM:616098	BCL10	8915	HP:0002383	Encephalitis
OMIM:616098	BCL10	8915	HP:0003593	Infantile onset
OMIM:616098	BCL10	8915	HP:0002719	Recurrent infections
OMIM:616098	BCL10	8915	HP:0001250	Seizures
OMIM:616098	BCL10	8915	HP:0000007	Autosomal recessive inheritance
OMIM:616098	BCL10	8915	HP:0002721	Immunodeficiency
OMIM:613435	OPTN	10133	HP:0001260	Dysarthria
OMIM:613435	OPTN	10133	HP:0001324	Muscle weakness
OMIM:613435	OPTN	10133	HP:0002015	Dysphagia
OMIM:613435	OPTN	10133	HP:0001308	Tongue fasciculations
OMIM:613435	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:2585	SAMD9L	219285	HP:0001251	Ataxia
ORPHA:2585	SAMD9L	219285	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2585	SAMD9L	219285	HP:0002317	Unsteady gait
ORPHA:2585	SAMD9L	219285	HP:0004820	Acute myelomonocytic leukemia
ORPHA:2585	SAMD9L	219285	HP:0001272	Cerebellar atrophy
ORPHA:2585	SAMD9L	219285	HP:0001874	Abnormality of neutrophils
ORPHA:2585	SAMD9L	219285	HP:0002167	Neurological speech impairment
ORPHA:2585	SAMD9L	219285	HP:0002205	Recurrent respiratory infections
ORPHA:2585	SAMD9L	219285	HP:0001744	Splenomegaly
ORPHA:2585	SAMD9L	219285	HP:0001908	Hypoplastic anemia
ORPHA:2585	SAMD9L	219285	HP:0000639	Nystagmus
ORPHA:2585	SAMD9L	219285	HP:0001347	Hyperreflexia
ORPHA:2585	SAMD9L	219285	HP:0004311	Abnormality of macrophages
ORPHA:668	CHEK2	11200	HP:0006489	Abnormality of the femoral metaphysis
ORPHA:668	CHEK2	11200	HP:0001386	Joint swelling
ORPHA:668	CHEK2	11200	HP:0012531	Pain
ORPHA:668	CHEK2	11200	HP:0006491	Abnormality of the tibial metaphysis
ORPHA:668	CHEK2	11200	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:668	CHEK2	11200	HP:0002797	Osteolysis
ORPHA:668	CHEK2	11200	HP:0003155	Elevated alkaline phosphatase
ORPHA:668	RB1	5925	HP:0006489	Abnormality of the femoral metaphysis
ORPHA:668	RB1	5925	HP:0001386	Joint swelling
ORPHA:668	RB1	5925	HP:0012531	Pain
ORPHA:668	RB1	5925	HP:0006491	Abnormality of the tibial metaphysis
ORPHA:668	RB1	5925	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:668	RB1	5925	HP:0002797	Osteolysis
ORPHA:668	RB1	5925	HP:0003155	Elevated alkaline phosphatase
ORPHA:668	TP53	7157	HP:0006489	Abnormality of the femoral metaphysis
ORPHA:668	TP53	7157	HP:0001386	Joint swelling
ORPHA:668	TP53	7157	HP:0012531	Pain
ORPHA:668	TP53	7157	HP:0006491	Abnormality of the tibial metaphysis
ORPHA:668	TP53	7157	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:668	TP53	7157	HP:0002797	Osteolysis
ORPHA:668	TP53	7157	HP:0003155	Elevated alkaline phosphatase
ORPHA:100070	GRN	2896	HP:0002354	Memory impairment
ORPHA:100070	GRN	2896	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	GRN	2896	HP:0002145	Frontotemporal dementia
ORPHA:100070	GRN	2896	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	GRN	2896	HP:0007112	Temporal cortical atrophy
ORPHA:100070	GRN	2896	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	GRN	2896	HP:0000739	Anxiety
ORPHA:100070	GRN	2896	HP:0002186	Apraxia
ORPHA:100070	GRN	2896	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	GRN	2896	HP:0010523	Alexia
ORPHA:100070	GRN	2896	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	GRN	2896	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	GRN	2896	HP:0011204	EEG with continuous slow activity
ORPHA:100070	GRN	2896	HP:0000716	Depressivity
ORPHA:100070	GRN	2896	HP:0002357	Dysphasia
ORPHA:100070	TREM2	54209	HP:0002354	Memory impairment
ORPHA:100070	TREM2	54209	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	TREM2	54209	HP:0002145	Frontotemporal dementia
ORPHA:100070	TREM2	54209	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	TREM2	54209	HP:0007112	Temporal cortical atrophy
ORPHA:100070	TREM2	54209	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	TREM2	54209	HP:0000739	Anxiety
ORPHA:100070	TREM2	54209	HP:0002186	Apraxia
ORPHA:100070	TREM2	54209	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	TREM2	54209	HP:0010523	Alexia
ORPHA:100070	TREM2	54209	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	TREM2	54209	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	TREM2	54209	HP:0011204	EEG with continuous slow activity
ORPHA:100070	TREM2	54209	HP:0000716	Depressivity
ORPHA:100070	TREM2	54209	HP:0002357	Dysphasia
ORPHA:100070	VCP	7415	HP:0002354	Memory impairment
ORPHA:100070	VCP	7415	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	VCP	7415	HP:0002145	Frontotemporal dementia
ORPHA:100070	VCP	7415	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	VCP	7415	HP:0007112	Temporal cortical atrophy
ORPHA:100070	VCP	7415	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	VCP	7415	HP:0000739	Anxiety
ORPHA:100070	VCP	7415	HP:0002186	Apraxia
ORPHA:100070	VCP	7415	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	VCP	7415	HP:0010523	Alexia
ORPHA:100070	VCP	7415	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	VCP	7415	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	VCP	7415	HP:0011204	EEG with continuous slow activity
ORPHA:100070	VCP	7415	HP:0000716	Depressivity
ORPHA:100070	VCP	7415	HP:0002357	Dysphasia
ORPHA:100070	TMEM106B	54664	HP:0002354	Memory impairment
ORPHA:100070	TMEM106B	54664	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	TMEM106B	54664	HP:0002145	Frontotemporal dementia
ORPHA:100070	TMEM106B	54664	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	TMEM106B	54664	HP:0007112	Temporal cortical atrophy
ORPHA:100070	TMEM106B	54664	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	TMEM106B	54664	HP:0000739	Anxiety
ORPHA:100070	TMEM106B	54664	HP:0002186	Apraxia
ORPHA:100070	TMEM106B	54664	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	TMEM106B	54664	HP:0010523	Alexia
ORPHA:100070	TMEM106B	54664	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	TMEM106B	54664	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	TMEM106B	54664	HP:0011204	EEG with continuous slow activity
ORPHA:100070	TMEM106B	54664	HP:0000716	Depressivity
ORPHA:100070	TMEM106B	54664	HP:0002357	Dysphasia
ORPHA:100070	MAPT	4137	HP:0002354	Memory impairment
ORPHA:100070	MAPT	4137	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	MAPT	4137	HP:0002145	Frontotemporal dementia
ORPHA:100070	MAPT	4137	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	MAPT	4137	HP:0007112	Temporal cortical atrophy
ORPHA:100070	MAPT	4137	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	MAPT	4137	HP:0000739	Anxiety
ORPHA:100070	MAPT	4137	HP:0002186	Apraxia
ORPHA:100070	MAPT	4137	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	MAPT	4137	HP:0010523	Alexia
ORPHA:100070	MAPT	4137	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	MAPT	4137	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	MAPT	4137	HP:0011204	EEG with continuous slow activity
ORPHA:100070	MAPT	4137	HP:0000716	Depressivity
ORPHA:100070	MAPT	4137	HP:0002357	Dysphasia
ORPHA:100070	CHMP2B	25978	HP:0002354	Memory impairment
ORPHA:100070	CHMP2B	25978	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	CHMP2B	25978	HP:0002145	Frontotemporal dementia
ORPHA:100070	CHMP2B	25978	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	CHMP2B	25978	HP:0007112	Temporal cortical atrophy
ORPHA:100070	CHMP2B	25978	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	CHMP2B	25978	HP:0000739	Anxiety
ORPHA:100070	CHMP2B	25978	HP:0002186	Apraxia
ORPHA:100070	CHMP2B	25978	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	CHMP2B	25978	HP:0010523	Alexia
ORPHA:100070	CHMP2B	25978	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	CHMP2B	25978	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	CHMP2B	25978	HP:0011204	EEG with continuous slow activity
ORPHA:100070	CHMP2B	25978	HP:0000716	Depressivity
ORPHA:100070	CHMP2B	25978	HP:0002357	Dysphasia
ORPHA:100070	PSEN1	5663	HP:0002354	Memory impairment
ORPHA:100070	PSEN1	5663	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	PSEN1	5663	HP:0002145	Frontotemporal dementia
ORPHA:100070	PSEN1	5663	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	PSEN1	5663	HP:0007112	Temporal cortical atrophy
ORPHA:100070	PSEN1	5663	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	PSEN1	5663	HP:0000739	Anxiety
ORPHA:100070	PSEN1	5663	HP:0002186	Apraxia
ORPHA:100070	PSEN1	5663	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	PSEN1	5663	HP:0010523	Alexia
ORPHA:100070	PSEN1	5663	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	PSEN1	5663	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	PSEN1	5663	HP:0011204	EEG with continuous slow activity
ORPHA:100070	PSEN1	5663	HP:0000716	Depressivity
ORPHA:100070	PSEN1	5663	HP:0002357	Dysphasia
ORPHA:100070	C9ORF72	203228	HP:0002354	Memory impairment
ORPHA:100070	C9ORF72	203228	HP:0006977	Grammar-specific speech disorder
ORPHA:100070	C9ORF72	203228	HP:0002145	Frontotemporal dementia
ORPHA:100070	C9ORF72	203228	HP:0006892	Frontotemporal cerebral atrophy
ORPHA:100070	C9ORF72	203228	HP:0007112	Temporal cortical atrophy
ORPHA:100070	C9ORF72	203228	HP:0030391	Spoken Word Recognition Deficit
ORPHA:100070	C9ORF72	203228	HP:0000739	Anxiety
ORPHA:100070	C9ORF72	203228	HP:0002186	Apraxia
ORPHA:100070	C9ORF72	203228	HP:0000474	Thickened nuchal skin fold
ORPHA:100070	C9ORF72	203228	HP:0010523	Alexia
ORPHA:100070	C9ORF72	203228	HP:0012658	Abnormal brain FDG positron emission tomography
ORPHA:100070	C9ORF72	203228	HP:0002500	Abnormality of the cerebral white matter
ORPHA:100070	C9ORF72	203228	HP:0011204	EEG with continuous slow activity
ORPHA:100070	C9ORF72	203228	HP:0000716	Depressivity
ORPHA:100070	C9ORF72	203228	HP:0002357	Dysphasia
OMIM:609441	BMPR1B	658	HP:0008873	Disproportionate short-limb short stature
OMIM:609441	BMPR1B	658	HP:0009381	Short finger
OMIM:609441	BMPR1B	658	HP:0001831	Short toe
OMIM:609441	BMPR1B	658	HP:0000815	Hypergonadotropic hypogonadism
OMIM:609441	BMPR1B	658	HP:0009803	Short phalanx of finger
OMIM:609441	BMPR1B	658	HP:0000007	Autosomal recessive inheritance
OMIM:609441	BMPR1B	658	HP:0001769	Broad foot
OMIM:609441	BMPR1B	658	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:609441	BMPR1B	658	HP:0100864	Short femoral neck
OMIM:609441	BMPR1B	658	HP:0005028	Widened proximal tibial metaphyses
OMIM:609441	BMPR1B	658	HP:0000786	Primary amenorrhea
OMIM:609441	BMPR1B	658	HP:0001762	Talipes equinovarus
OMIM:609441	BMPR1B	658	HP:0010242	Aplasia of the proximal phalanges of the hand
OMIM:609441	BMPR1B	658	HP:0008368	Tarsal synostosis
OMIM:609441	BMPR1B	658	HP:0009466	Radial deviation of finger
OMIM:609441	BMPR1B	658	HP:0009702	Carpal synostosis
OMIM:609441	BMPR1B	658	HP:0000013	Hypoplasia of the uterus
OMIM:609441	BMPR1B	658	HP:0003022	Hypoplasia of the ulna
OMIM:609441	BMPR1B	658	HP:0002990	Fibular aplasia
OMIM:604004	MLC1	23209	HP:0001257	Spasticity
OMIM:604004	MLC1	23209	HP:0001270	Motor delay
OMIM:604004	MLC1	23209	HP:0006943	Diffuse spongiform leukoencephalopathy
OMIM:604004	MLC1	23209	HP:0001250	Seizures
OMIM:604004	MLC1	23209	HP:0000256	Macrocephaly
OMIM:604004	MLC1	23209	HP:0001251	Ataxia
OMIM:604004	MLC1	23209	HP:0001256	Intellectual disability, mild
OMIM:604004	MLC1	23209	HP:0000007	Autosomal recessive inheritance
OMIM:604004	MLC1	23209	HP:0001355	Megalencephaly
OMIM:604004	MLC1	23209	HP:0003593	Infantile onset
OMIM:604004	MLC1	23209	HP:0007341	Diffuse swelling of cerebral white matter
OMIM:604004	HEPACAM	220296	HP:0001257	Spasticity
OMIM:604004	HEPACAM	220296	HP:0001270	Motor delay
OMIM:604004	HEPACAM	220296	HP:0006943	Diffuse spongiform leukoencephalopathy
OMIM:604004	HEPACAM	220296	HP:0001250	Seizures
OMIM:604004	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:604004	HEPACAM	220296	HP:0001251	Ataxia
OMIM:604004	HEPACAM	220296	HP:0001256	Intellectual disability, mild
OMIM:604004	HEPACAM	220296	HP:0000007	Autosomal recessive inheritance
OMIM:604004	HEPACAM	220296	HP:0001355	Megalencephaly
OMIM:604004	HEPACAM	220296	HP:0003593	Infantile onset
OMIM:604004	HEPACAM	220296	HP:0007341	Diffuse swelling of cerebral white matter
OMIM:144700	RNF139	11236	HP:0005584	Renal cell carcinoma
OMIM:144700	RNF139	11236	HP:0003745	Sporadic
OMIM:144700	VHL	7428	HP:0005584	Renal cell carcinoma
OMIM:144700	VHL	7428	HP:0003745	Sporadic
OMIM:144700	FLCN	201163	HP:0005584	Renal cell carcinoma
OMIM:144700	FLCN	201163	HP:0003745	Sporadic
OMIM:144700	OGG1	4968	HP:0005584	Renal cell carcinoma
OMIM:144700	OGG1	4968	HP:0003745	Sporadic
OMIM:144700	DIRC2	84925	HP:0005584	Renal cell carcinoma
OMIM:144700	DIRC2	84925	HP:0003745	Sporadic
OMIM:144700	HNF1A	6927	HP:0005584	Renal cell carcinoma
OMIM:144700	HNF1A	6927	HP:0003745	Sporadic
ORPHA:156728	MATN3	4148	HP:0002979	Bowing of the legs
ORPHA:156728	MATN3	4148	HP:0002938	Lumbar hyperlordosis
ORPHA:156728	MATN3	4148	HP:0008873	Disproportionate short-limb short stature
ORPHA:156728	MATN3	4148	HP:0009826	Limb undergrowth
ORPHA:156728	MATN3	4148	HP:0001377	Limited elbow extension
ORPHA:156728	MATN3	4148	HP:0002515	Waddling gait
OMIM:603903	HBB	3043	HP:0001974	Leukocytosis
OMIM:603903	HBB	3043	HP:0001297	Stroke
OMIM:603903	HBB	3043	HP:0000083	Renal insufficiency
OMIM:603903	HBB	3043	HP:0000952	Jaundice
OMIM:603903	HBB	3043	HP:0001744	Splenomegaly
OMIM:603903	HBB	3043	HP:0200023	Priapism
OMIM:603903	HBB	3043	HP:0012418	Hypoxemia
OMIM:603903	HBB	3043	HP:0002718	Recurrent bacterial infections
OMIM:603903	HBB	3043	HP:0001640	Cardiomegaly
OMIM:603903	HBB	3043	HP:0002240	Hepatomegaly
OMIM:603903	HBB	3043	HP:0000790	Hematuria
OMIM:603903	HBB	3043	HP:0000007	Autosomal recessive inheritance
OMIM:603903	HBB	3043	HP:0002027	Abdominal pain
OMIM:603903	HBB	3043	HP:0001081	Cholelithiasis
OMIM:603903	HBB	3043	HP:0001878	Hemolytic anemia
OMIM:603903	HBB	3043	HP:0008346	Increased red cell sickling tendency
OMIM:603903	HBB	3043	HP:0000488	Retinopathy
OMIM:612528	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612528	RPL35A	6165	HP:0001882	Leukopenia
OMIM:612528	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:612528	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:612528	RPL35A	6165	HP:0000316	Hypertelorism
OMIM:612528	RPL35A	6165	HP:0000369	Low-set ears
OMIM:612528	RPL35A	6165	HP:0001629	Ventricular septal defect
OMIM:612528	RPL35A	6165	HP:0004322	Short stature
OMIM:612528	RPL35A	6165	HP:0003593	Infantile onset
OMIM:612528	RPL35A	6165	HP:0000047	Hypospadias
OMIM:612528	RPL35A	6165	HP:0001263	Global developmental delay
OMIM:612528	RPL35A	6165	HP:0012133	Erythroid hypoplasia
OMIM:616329	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:616329	KCNJ11	3767	HP:0009800	Maternal diabetes
OMIM:616329	KCNJ11	3767	HP:0004904	Maturity-onset diabetes of the young
OMIM:617018	MME	4311	HP:0001260	Dysarthria
OMIM:617018	MME	4311	HP:0002070	Limb ataxia
OMIM:617018	MME	4311	HP:0003693	Distal amyotrophy
OMIM:617018	MME	4311	HP:0001265	Hyporeflexia
OMIM:617018	MME	4311	HP:0001337	Tremor
OMIM:617018	MME	4311	HP:0001761	Pes cavus
OMIM:617018	MME	4311	HP:0003677	Slow progression
OMIM:617018	MME	4311	HP:0003581	Adult onset
OMIM:617018	MME	4311	HP:0000006	Autosomal dominant inheritance
OMIM:617018	MME	4311	HP:0001272	Cerebellar atrophy
OMIM:617018	MME	4311	HP:0002066	Gait ataxia
OMIM:113900	SCN5A	6331	HP:0001279	Syncope
OMIM:113900	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:113900	SCN5A	6331	HP:0002094	Dyspnea
OMIM:113900	SCN5A	6331	HP:0011711	Left anterior fascicular block
OMIM:113900	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:113900	SCN5A	6331	HP:0005172	Left posterior fascicular block
OMIM:113900	SCN5A	6331	HP:0001425	Heterogeneous
OMIM:113900	SCN5A	6331	HP:0005170	Complete heart block with broad QRS complexes
OMIM:113900	SCN5A	6331	HP:0001699	Sudden death
OMIM:113900	SCN5A	6331	HP:0011712	Right bundle branch block
OMIM:119500	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:119500	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:119500	IRF6	3664	HP:0000059	Hypoplastic labia majora
OMIM:119500	IRF6	3664	HP:0000048	Bifid scrotum
OMIM:119500	IRF6	3664	HP:0000175	Cleft palate
OMIM:119500	IRF6	3664	HP:0000726	Dementia
OMIM:119500	IRF6	3664	HP:0001762	Talipes equinovarus
OMIM:119500	IRF6	3664	HP:0008726	Hypoplasia of the vagina
OMIM:119500	IRF6	3664	HP:0000028	Cryptorchidism
OMIM:119500	IRF6	3664	HP:0009756	Popliteal pterygium
OMIM:119500	IRF6	3664	HP:0000013	Hypoplasia of the uterus
OMIM:119500	IRF6	3664	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails
OMIM:119500	IRF6	3664	HP:0009755	Ankyloblepharon
OMIM:119500	IRF6	3664	HP:0010554	Cutaneous finger syndactyly
OMIM:119500	IRF6	3664	HP:0009754	Fibrous syngnathia
OMIM:119500	IRF6	3664	HP:0000046	Scrotal hypoplasia
OMIM:119500	IRF6	3664	HP:0000196	Lower lip pit
OMIM:119500	IRF6	3664	HP:0003298	Spina bifida occulta
OMIM:119500	IRF6	3664	HP:0009757	Intercrural pterygium
OMIM:613926	HEPACAM	220296	HP:0001270	Motor delay
OMIM:613926	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:613926	HEPACAM	220296	HP:0002312	Clumsiness
OMIM:613926	HEPACAM	220296	HP:0001355	Megalencephaly
OMIM:613926	HEPACAM	220296	HP:0007341	Diffuse swelling of cerebral white matter
OMIM:613926	HEPACAM	220296	HP:0000006	Autosomal dominant inheritance
OMIM:613926	HEPACAM	220296	HP:0001290	Generalized hypotonia
ORPHA:276152	CDKN1B	1027	HP:0002014	Diarrhea
ORPHA:276152	CDKN1B	1027	HP:0000854	Thyroid adenoma
ORPHA:276152	CDKN1B	1027	HP:0006772	Renal angiomyolipoma
ORPHA:276152	CDKN1B	1027	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:276152	CDKN1B	1027	HP:0011761	Pituitary null cell adenoma
ORPHA:276152	CDKN1B	1027	HP:0002044	Zollinger-Ellison syndrome
ORPHA:276152	CDKN1B	1027	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:276152	CDKN1B	1027	HP:0008256	Adrenocortical adenoma
ORPHA:276152	CDKN1B	1027	HP:0008283	Fasting hyperinsulinemia
ORPHA:276152	CDKN1B	1027	HP:0011760	Pituitary growth hormone cell adenoma
ORPHA:276152	CDKN1B	1027	HP:0000845	Growth hormone excess
ORPHA:276152	CDKN1B	1027	HP:0004398	Peptic ulcer
ORPHA:276152	CDKN1B	1027	HP:0012197	Insulinoma
ORPHA:276152	CDKN1B	1027	HP:0030445	Pulmonary carcinoid tumor
ORPHA:276152	CDKN1B	1027	HP:0000843	Hyperparathyroidism
ORPHA:276152	CDKN1B	1027	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:276152	CDKN1B	1027	HP:0003072	Hypercalcemia
ORPHA:276152	CDKN1B	1027	HP:0008208	Parathyroid hyperplasia
ORPHA:276152	CDKN1B	1027	HP:0001031	Subcutaneous lipoma
ORPHA:276152	CDKN1B	1027	HP:0002574	Episodic abdominal pain
ORPHA:276152	CDKN1B	1027	HP:0010615	Angiofibromas
ORPHA:276152	CDKN1B	1027	HP:0100633	Esophagitis
ORPHA:276152	CDKN1B	1027	HP:0002897	Parathyroid adenoma
OMIM:615963	TNXB	7148	HP:0000006	Autosomal dominant inheritance
OMIM:615963	TNXB	7148	HP:0000010	Recurrent urinary tract infections
OMIM:615963	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:615963	TNXB	7148	HP:0000081	Duplicated collecting system
OMIM:615963	TNXB	7148	HP:0001382	Joint hypermobility
OMIM:606812	FH	2271	HP:0001508	Failure to thrive
OMIM:606812	FH	2271	HP:0002167	Neurological speech impairment
OMIM:606812	FH	2271	HP:0004482	Relative macrocephaly
OMIM:606812	FH	2271	HP:0002365	Hypoplasia of the brainstem
OMIM:606812	FH	2271	HP:0003128	Lactic acidosis
OMIM:606812	FH	2271	HP:0002133	Status epilepticus
OMIM:606812	FH	2271	HP:0001290	Generalized hypotonia
OMIM:606812	FH	2271	HP:0000648	Optic atrophy
OMIM:606812	FH	2271	HP:0000218	High palate
OMIM:606812	FH	2271	HP:0001901	Polycythemia
OMIM:606812	FH	2271	HP:0002187	Intellectual disability, profound
OMIM:606812	FH	2271	HP:0007620	Cutaneous leiomyoma
OMIM:606812	FH	2271	HP:0001263	Global developmental delay
OMIM:606812	FH	2271	HP:0001399	Hepatic failure
OMIM:606812	FH	2271	HP:0001274	Agenesis of corpus callosum
OMIM:606812	FH	2271	HP:0000980	Pallor
OMIM:606812	FH	2271	HP:0000007	Autosomal recessive inheritance
OMIM:606812	FH	2271	HP:0000316	Hypertelorism
OMIM:606812	FH	2271	HP:0001942	Metabolic acidosis
OMIM:606812	FH	2271	HP:0002059	Cerebral atrophy
OMIM:606812	FH	2271	HP:0005280	Depressed nasal bridge
OMIM:606812	FH	2271	HP:0003355	Aminoaciduria
OMIM:606812	FH	2271	HP:0002126	Polymicrogyria
OMIM:606812	FH	2271	HP:0002007	Frontal bossing
OMIM:606812	FH	2271	HP:0000505	Visual impairment
OMIM:606812	FH	2271	HP:0100954	Open operculum
OMIM:606812	FH	2271	HP:0000463	Anteverted nares
OMIM:606812	FH	2271	HP:0000252	Microcephaly
OMIM:606812	FH	2271	HP:0002190	Choroid plexus cyst
OMIM:606812	FH	2271	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:606812	FH	2271	HP:0001396	Cholestasis
OMIM:601067	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:601067	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601067	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:601067	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:601067	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:601067	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601067	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:601067	CDH23	64072	HP:0000365	Hearing impairment
OMIM:616835	GMNN	51053	HP:0000405	Conductive hearing impairment
OMIM:616835	GMNN	51053	HP:0000006	Autosomal dominant inheritance
OMIM:616835	GMNN	51053	HP:0000028	Cryptorchidism
OMIM:616835	GMNN	51053	HP:0000059	Hypoplastic labia majora
OMIM:616835	GMNN	51053	HP:0001385	Hip dysplasia
OMIM:616835	GMNN	51053	HP:0005819	Short middle phalanx of finger
OMIM:616835	GMNN	51053	HP:0002205	Recurrent respiratory infections
OMIM:616835	GMNN	51053	HP:0001537	Umbilical hernia
OMIM:616835	GMNN	51053	HP:0000824	Growth hormone deficiency
OMIM:616835	GMNN	51053	HP:0000823	Delayed puberty
OMIM:616835	GMNN	51053	HP:0000402	Stenosis of the external auditory canal
OMIM:616835	GMNN	51053	HP:0000457	Depressed nasal ridge
ORPHA:1059	TEK	7010	HP:0003010	Prolonged bleeding time
ORPHA:1059	TEK	7010	HP:0002580	Volvulus
ORPHA:1059	TEK	7010	HP:0100761	Visceral angiomatosis
ORPHA:1059	TEK	7010	HP:0100026	Arteriovenous malformation
ORPHA:1059	TEK	7010	HP:0002584	Intestinal bleeding
ORPHA:1059	TEK	7010	HP:0001048	Cavernous hemangioma
ORPHA:1059	TEK	7010	HP:0001928	Abnormality of coagulation
ORPHA:1059	TEK	7010	HP:0000988	Skin rash
ORPHA:1059	TEK	7010	HP:0002653	Bone pain
ORPHA:1059	TEK	7010	HP:0001482	Subcutaneous nodule
OMIM:614299	BOLA3	388962	HP:0002240	Hepatomegaly
OMIM:614299	BOLA3	388962	HP:0001644	Dilated cardiomyopathy
OMIM:614299	BOLA3	388962	HP:0002421	Poor head control
OMIM:614299	BOLA3	388962	HP:0001522	Death in infancy
OMIM:614299	BOLA3	388962	HP:0002013	Vomiting
OMIM:614299	BOLA3	388962	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614299	BOLA3	388962	HP:0002415	Leukodystrophy
OMIM:614299	BOLA3	388962	HP:0200134	Epileptic encephalopathy
OMIM:614299	BOLA3	388962	HP:0001263	Global developmental delay
OMIM:614299	BOLA3	388962	HP:0000007	Autosomal recessive inheritance
OMIM:614299	BOLA3	388962	HP:0001250	Seizures
OMIM:614299	BOLA3	388962	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:614299	BOLA3	388962	HP:0001254	Lethargy
OMIM:614299	BOLA3	388962	HP:0001290	Generalized hypotonia
OMIM:614299	BOLA3	388962	HP:0002878	Respiratory failure
OMIM:614299	BOLA3	388962	HP:0003128	Lactic acidosis
OMIM:614299	BOLA3	388962	HP:0003593	Infantile onset
OMIM:614299	BOLA3	388962	HP:0001257	Spasticity
OMIM:614299	BOLA3	388962	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:209850	SNRPN	6638	HP:0000717	Autism
OMIM:209850	SNRPN	6638	HP:0000732	Inflexible adherence to routines or rituals
OMIM:209850	SNRPN	6638	HP:0001250	Seizures
OMIM:209850	SNRPN	6638	HP:0000758	Impaired use of nonverbal behaviors
OMIM:209850	SNRPN	6638	HP:0001249	Intellectual disability
OMIM:209850	SNRPN	6638	HP:0000721	Lack of spontaneous play
OMIM:209850	SNRPN	6638	HP:0000728	Impaired ability to form peer relationships
OMIM:209850	SNRPN	6638	HP:0000723	Restrictive behavior
OMIM:209850	SNRPN	6638	HP:0002353	EEG abnormality
OMIM:209850	SNRPN	6638	HP:0003144	Increased serum serotonin
OMIM:209850	SNRPN	6638	HP:0001426	Multifactorial inheritance
OMIM:209850	SNRPN	6638	HP:0011463	Childhood onset
OMIM:209850	SNRPN	6638	HP:0001425	Heterogeneous
OMIM:209850	SNRPN	6638	HP:0003745	Sporadic
OMIM:209850	SNRPN	6638	HP:0000750	Delayed speech and language development
OMIM:209850	SNRPN	6638	HP:0000733	Stereotypy
OMIM:300857	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	UBQLN2	29978	HP:0001332	Dystonia
OMIM:300857	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:300857	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:300857	UBQLN2	29978	HP:0002305	Athetosis
OMIM:300857	UBQLN2	29978	HP:0003581	Adult onset
OMIM:300857	UBQLN2	29978	HP:0001423	X-linked dominant inheritance
OMIM:300857	UBQLN2	29978	HP:0002145	Frontotemporal dementia
OMIM:300857	UBQLN2	29978	HP:0003676	Progressive
OMIM:613673	KLF1	10661	HP:0002240	Hepatomegaly
OMIM:613673	KLF1	10661	HP:0010972	Anemia of inadequate production
OMIM:613673	KLF1	10661	HP:0000006	Autosomal dominant inheritance
OMIM:613673	KLF1	10661	HP:0002904	Hyperbilirubinemia
OMIM:613673	KLF1	10661	HP:0004322	Short stature
OMIM:613673	KLF1	10661	HP:0012132	Erythroid hyperplasia
OMIM:613673	KLF1	10661	HP:0001789	Hydrops fetalis
OMIM:613673	KLF1	10661	HP:0003577	Congenital onset
OMIM:613673	KLF1	10661	HP:0001923	Reticulocytosis
OMIM:613673	KLF1	10661	HP:0001744	Splenomegaly
OMIM:615879	DNMT3A	1788	HP:0000098	Tall stature
OMIM:615879	DNMT3A	1788	HP:0000006	Autosomal dominant inheritance
OMIM:615879	DNMT3A	1788	HP:0000311	Round face
OMIM:615879	DNMT3A	1788	HP:0000256	Macrocephaly
OMIM:615879	DNMT3A	1788	HP:0000581	Blepharophimosis
OMIM:615879	DNMT3A	1788	HP:0001249	Intellectual disability
ORPHA:3416	SOST	50964	HP:0004437	Cranial hyperostosis
ORPHA:3416	SOST	50964	HP:0005019	Diaphyseal thickening
ORPHA:3416	SOST	50964	HP:0000889	Abnormality of the clavicle
ORPHA:3416	SOST	50964	HP:0003103	Abnormal cortical bone morphology
ORPHA:3416	SOST	50964	HP:0000303	Mandibular prognathia
ORPHA:3416	SOST	50964	HP:0000407	Sensorineural hearing impairment
ORPHA:3416	SOST	50964	HP:0005789	Generalized osteosclerosis
ORPHA:3416	SOST	50964	HP:0010628	Facial palsy
ORPHA:3416	LRP5	4041	HP:0004437	Cranial hyperostosis
ORPHA:3416	LRP5	4041	HP:0005019	Diaphyseal thickening
ORPHA:3416	LRP5	4041	HP:0000889	Abnormality of the clavicle
ORPHA:3416	LRP5	4041	HP:0003103	Abnormal cortical bone morphology
ORPHA:3416	LRP5	4041	HP:0000303	Mandibular prognathia
ORPHA:3416	LRP5	4041	HP:0000407	Sensorineural hearing impairment
ORPHA:3416	LRP5	4041	HP:0005789	Generalized osteosclerosis
ORPHA:3416	LRP5	4041	HP:0010628	Facial palsy
ORPHA:90308	AGGF1	55109	HP:0001028	Hemangioma
ORPHA:90308	AGGF1	55109	HP:0002239	Gastrointestinal hemorrhage
ORPHA:90308	AGGF1	55109	HP:0004936	Venous thrombosis
ORPHA:90308	AGGF1	55109	HP:0100658	Cellulitis
ORPHA:90308	AGGF1	55109	HP:0005293	Venous insufficiency
ORPHA:90308	AGGF1	55109	HP:0000098	Tall stature
ORPHA:90308	AGGF1	55109	HP:0100559	Lower limb asymmetry
ORPHA:90308	AGGF1	55109	HP:0002204	Pulmonary embolism
ORPHA:90308	AGGF1	55109	HP:0100560	Upper limb asymmetry
OMIM:616364	POGZ	23126	HP:0000612	Iris coloboma
OMIM:616364	POGZ	23126	HP:0002020	Gastroesophageal reflux
OMIM:616364	POGZ	23126	HP:0000297	Facial hypotonia
OMIM:616364	POGZ	23126	HP:0000470	Short neck
OMIM:616364	POGZ	23126	HP:0000510	Rod-cone dystrophy
OMIM:616364	POGZ	23126	HP:0000455	Broad nasal tip
OMIM:616364	POGZ	23126	HP:0011800	Midface retrusion
OMIM:616364	POGZ	23126	HP:0000006	Autosomal dominant inheritance
OMIM:616364	POGZ	23126	HP:0000649	Abnormality of visual evoked potentials
OMIM:616364	POGZ	23126	HP:0001156	Brachydactyly
OMIM:616364	POGZ	23126	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:616364	POGZ	23126	HP:0000307	Pointed chin
OMIM:616364	POGZ	23126	HP:0000512	Abnormal electroretinogram
OMIM:616364	POGZ	23126	HP:0001388	Joint laxity
OMIM:616364	POGZ	23126	HP:0000369	Low-set ears
OMIM:616364	POGZ	23126	HP:0000545	Myopia
OMIM:616364	POGZ	23126	HP:0000648	Optic atrophy
OMIM:616364	POGZ	23126	HP:0000194	Open mouth
OMIM:616364	POGZ	23126	HP:0000303	Mandibular prognathia
OMIM:616364	POGZ	23126	HP:0001263	Global developmental delay
OMIM:616364	POGZ	23126	HP:0000252	Microcephaly
OMIM:616364	POGZ	23126	HP:0000218	High palate
OMIM:616364	POGZ	23126	HP:0002059	Cerebral atrophy
OMIM:616364	POGZ	23126	HP:0001249	Intellectual disability
OMIM:616364	POGZ	23126	HP:0002019	Constipation
OMIM:616364	POGZ	23126	HP:0100716	Self-injurious behavior
OMIM:616364	POGZ	23126	HP:0000358	Posteriorly rotated ears
OMIM:616364	POGZ	23126	HP:0001290	Generalized hypotonia
OMIM:616364	POGZ	23126	HP:0000483	Astigmatism
OMIM:616364	POGZ	23126	HP:0000540	Hypermetropia
OMIM:616364	POGZ	23126	HP:0000322	Short philtrum
OMIM:616364	POGZ	23126	HP:0000248	Brachycephaly
OMIM:616364	POGZ	23126	HP:0002173	Hypoglycemic seizures
OMIM:616364	POGZ	23126	HP:0005280	Depressed nasal bridge
OMIM:616364	POGZ	23126	HP:0000486	Strabismus
OMIM:616364	POGZ	23126	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616364	POGZ	23126	HP:0002714	Downturned corners of mouth
OMIM:616364	POGZ	23126	HP:0100704	Cortical visual impairment
OMIM:616364	POGZ	23126	HP:0004322	Short stature
OMIM:616364	POGZ	23126	HP:0011968	Feeding difficulties
OMIM:613660	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:613660	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613660	CDHR1	92211	HP:0000529	Progressive visual loss
ORPHA:231401	ATRX	546	HP:0001935	Microcytic anemia
ORPHA:231401	ATRX	546	HP:0002094	Dyspnea
ORPHA:231401	ATRX	546	HP:0001873	Thrombocytopenia
ORPHA:231401	ATRX	546	HP:0001875	Neutropenia
ORPHA:231401	ATRX	546	HP:0012378	Fatigue
ORPHA:231401	ATRX	546	HP:0000978	Bruising susceptibility
ORPHA:231401	ATRX	546	HP:0011903	Hemoglobin H
OMIM:610505	TSFM	10102	HP:0001511	Intrauterine growth retardation
OMIM:610505	TSFM	10102	HP:0001655	Patent foramen ovale
OMIM:610505	TSFM	10102	HP:0100543	Cognitive impairment
OMIM:610505	TSFM	10102	HP:0001298	Encephalopathy
OMIM:610505	TSFM	10102	HP:0000007	Autosomal recessive inheritance
OMIM:610505	TSFM	10102	HP:0001250	Seizures
OMIM:610505	TSFM	10102	HP:0001337	Tremor
OMIM:610505	TSFM	10102	HP:0002151	Increased serum lactate
OMIM:610505	TSFM	10102	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610505	TSFM	10102	HP:0001290	Generalized hypotonia
OMIM:610505	TSFM	10102	HP:0001138	Optic neuropathy
OMIM:610505	TSFM	10102	HP:0003819	Death in childhood
OMIM:610505	TSFM	10102	HP:0002240	Hepatomegaly
OMIM:610505	TSFM	10102	HP:0001263	Global developmental delay
OMIM:610505	TSFM	10102	HP:0001558	Decreased fetal movement
OMIM:610505	TSFM	10102	HP:0001643	Patent ductus arteriosus
OMIM:610505	TSFM	10102	HP:0000505	Visual impairment
OMIM:610505	TSFM	10102	HP:0002119	Ventriculomegaly
OMIM:610505	TSFM	10102	HP:0001324	Muscle weakness
OMIM:610505	TSFM	10102	HP:0003201	Rhabdomyolysis
OMIM:610505	TSFM	10102	HP:0001319	Neonatal hypotonia
OMIM:610505	TSFM	10102	HP:0003812	Phenotypic variability
OMIM:610505	TSFM	10102	HP:0008347	Decreased activity of mitochondrial complex IV
OMIM:610505	TSFM	10102	HP:0002878	Respiratory failure
OMIM:610505	TSFM	10102	HP:0003128	Lactic acidosis
OMIM:610505	TSFM	10102	HP:0008872	Feeding difficulties in infancy
OMIM:610505	TSFM	10102	HP:0001251	Ataxia
OMIM:610505	TSFM	10102	HP:0001332	Dystonia
OMIM:610505	TSFM	10102	HP:0000648	Optic atrophy
OMIM:610505	TSFM	10102	HP:0005157	Concentric hypertrophic cardiomyopathy
OMIM:610505	TSFM	10102	HP:0011924	Decreased activity of mitochondrial complex III
OMIM:610505	TSFM	10102	HP:0011923	Decreased activity of mitochondrial complex I
OMIM:615866	SOX11	6664	HP:0005280	Depressed nasal bridge
OMIM:615866	SOX11	6664	HP:0000293	Full cheeks
OMIM:615866	SOX11	6664	HP:0000331	Short chin
OMIM:615866	SOX11	6664	HP:0005288	Abnormality of the nares
OMIM:615866	SOX11	6664	HP:0001999	Abnormal facial shape
OMIM:615866	SOX11	6664	HP:0002553	Highly arched eyebrow
OMIM:615866	SOX11	6664	HP:0003196	Short nose
OMIM:615866	SOX11	6664	HP:0001511	Intrauterine growth retardation
OMIM:615866	SOX11	6664	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	SOX11	6664	HP:0000232	Everted lower lip vermilion
OMIM:615866	SOX11	6664	HP:0000430	Underdeveloped nasal alae
OMIM:615866	SOX11	6664	HP:0003189	Long nose
OMIM:615866	SOX11	6664	HP:0012471	Thick vermilion border
OMIM:615866	SOX11	6664	HP:0001256	Intellectual disability, mild
OMIM:615866	SOX11	6664	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	SOX11	6664	HP:0000358	Posteriorly rotated ears
OMIM:615866	SOX11	6664	HP:0000194	Open mouth
OMIM:615866	SOX11	6664	HP:0000369	Low-set ears
OMIM:615866	SOX11	6664	HP:0012745	Short palpebral fissure
OMIM:615866	SOX11	6664	HP:0030084	Clinodactyly
OMIM:615866	SOX11	6664	HP:0000322	Short philtrum
OMIM:615866	SOX11	6664	HP:0000527	Long eyelashes
OMIM:615866	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:615866	SOX11	6664	HP:0000252	Microcephaly
OMIM:615866	SOX11	6664	HP:0011800	Midface retrusion
OMIM:615866	SOX11	6664	HP:0004322	Short stature
OMIM:615866	SOX11	6664	HP:0000998	Hypertrichosis
OMIM:615866	SOX11	6664	HP:0009882	Short distal phalanx of finger
OMIM:615866	SOX11	6664	HP:0009929	Abnormality of the columella
OMIM:615907	VEGFC	7424	HP:0100797	Toenail dysplasia
OMIM:615907	VEGFC	7424	HP:0000006	Autosomal dominant inheritance
OMIM:615907	VEGFC	7424	HP:0000034	Hydrocele testis
OMIM:615907	VEGFC	7424	HP:0003828	Variable expressivity
OMIM:615907	VEGFC	7424	HP:0001004	Lymphedema
OMIM:234580	PEX1	5189	HP:0000705	Amelogenesis imperfecta
OMIM:234580	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:234580	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:234580	PEX1	5189	HP:0006297	Hypoplasia of dental enamel
OMIM:234580	PEX1	5189	HP:0001820	Leukonychia
OMIM:614491	WNK4	65266	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:614491	WNK4	65266	HP:0002153	Hyperkalemia
OMIM:614491	WNK4	65266	HP:0011423	Hyperchloremia
OMIM:614491	WNK4	65266	HP:0000006	Autosomal dominant inheritance
OMIM:614491	WNK4	65266	HP:0000822	Hypertension
OMIM:614491	WNK4	65266	HP:0008242	Pseudohypoaldosteronism
OMIM:616126	ISG15	9636	HP:0011274	Recurrent mycobacterial infections
OMIM:616126	ISG15	9636	HP:0000007	Autosomal recessive inheritance
OMIM:616126	ISG15	9636	HP:0002721	Immunodeficiency
OMIM:314390	FANCB	2187	HP:0002023	Anal atresia
OMIM:314390	FANCB	2187	HP:0003812	Phenotypic variability
OMIM:314390	FANCB	2187	HP:0000126	Hydronephrosis
OMIM:314390	FANCB	2187	HP:0002575	Tracheoesophageal fistula
OMIM:314390	FANCB	2187	HP:0001419	X-linked recessive inheritance
OMIM:314390	FANCB	2187	HP:0003468	Abnormal vertebral morphology
OMIM:314390	FANCB	2187	HP:0000105	Enlarged kidney
OMIM:314390	FANCB	2187	HP:0000238	Hydrocephalus
OMIM:314390	FANCB	2187	HP:0001161	Hand polydactyly
OMIM:314390	FANCB	2187	HP:0003974	Absent radius
OMIM:314390	FANCB	2187	HP:0009623	Proximal placement of thumb
OMIM:314390	FANCB	2187	HP:0000068	Urethral atresia
OMIM:314390	FANCB	2187	HP:0001669	Transposition of the great arteries
OMIM:314390	FANCB	2187	HP:0006695	Atrioventricular canal defect
OMIM:314390	FANCB	2187	HP:0005792	Short humerus
OMIM:314390	ZIC3	7547	HP:0002023	Anal atresia
OMIM:314390	ZIC3	7547	HP:0003812	Phenotypic variability
OMIM:314390	ZIC3	7547	HP:0000126	Hydronephrosis
OMIM:314390	ZIC3	7547	HP:0002575	Tracheoesophageal fistula
OMIM:314390	ZIC3	7547	HP:0001419	X-linked recessive inheritance
OMIM:314390	ZIC3	7547	HP:0003468	Abnormal vertebral morphology
OMIM:314390	ZIC3	7547	HP:0000105	Enlarged kidney
OMIM:314390	ZIC3	7547	HP:0000238	Hydrocephalus
OMIM:314390	ZIC3	7547	HP:0001161	Hand polydactyly
OMIM:314390	ZIC3	7547	HP:0003974	Absent radius
OMIM:314390	ZIC3	7547	HP:0009623	Proximal placement of thumb
OMIM:314390	ZIC3	7547	HP:0000068	Urethral atresia
OMIM:314390	ZIC3	7547	HP:0001669	Transposition of the great arteries
OMIM:314390	ZIC3	7547	HP:0006695	Atrioventricular canal defect
OMIM:314390	ZIC3	7547	HP:0005792	Short humerus
ORPHA:59	SLC16A2	6567	HP:0000194	Open mouth
ORPHA:59	SLC16A2	6567	HP:0000582	Upslanted palpebral fissure
ORPHA:59	SLC16A2	6567	HP:0002540	Inability to walk
ORPHA:59	SLC16A2	6567	HP:0003202	Skeletal muscle atrophy
ORPHA:59	SLC16A2	6567	HP:0001251	Ataxia
ORPHA:59	SLC16A2	6567	HP:0002381	Aphasia
ORPHA:59	SLC16A2	6567	HP:0000020	Urinary incontinence
ORPHA:59	SLC16A2	6567	HP:0004422	Biparietal narrowing
ORPHA:59	SLC16A2	6567	HP:0001344	Absent speech
ORPHA:59	SLC16A2	6567	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:59	SLC16A2	6567	HP:0000400	Macrotia
ORPHA:59	SLC16A2	6567	HP:0000464	Abnormality of the neck
ORPHA:59	SLC16A2	6567	HP:0011344	Severe global developmental delay
ORPHA:59	SLC16A2	6567	HP:0002607	Bowel incontinence
ORPHA:59	SLC16A2	6567	HP:0001347	Hyperreflexia
ORPHA:59	SLC16A2	6567	HP:0010864	Intellectual disability, severe
ORPHA:59	SLC16A2	6567	HP:0000275	Narrow face
ORPHA:59	SLC16A2	6567	HP:0001387	Joint stiffness
ORPHA:59	SLC16A2	6567	HP:0006887	Intellectual disability, progressive
ORPHA:59	SLC16A2	6567	HP:0007598	Bilateral single transverse palmar creases
ORPHA:59	SLC16A2	6567	HP:0009004	Hypoplasia of the musculature
OMIM:203780	COL4A3	1285	HP:0000123	Nephritis
OMIM:203780	COL4A3	1285	HP:0000790	Hematuria
OMIM:203780	COL4A3	1285	HP:0000100	Nephrotic syndrome
OMIM:203780	COL4A3	1285	HP:0003774	Stage 5 chronic kidney disease
OMIM:203780	COL4A3	1285	HP:0011501	Anterior lenticonus
OMIM:203780	COL4A3	1285	HP:0030034	Diffuse glomerular basement membrane lamellation
OMIM:203780	COL4A3	1285	HP:0200020	Corneal erosion
OMIM:203780	COL4A3	1285	HP:0000093	Proteinuria
OMIM:203780	COL4A3	1285	HP:0000365	Hearing impairment
OMIM:203780	COL4A3	1285	HP:0000545	Myopia
OMIM:203780	COL4A3	1285	HP:0004722	Thickening of the glomerular basement membrane
OMIM:203780	COL4A3	1285	HP:0003676	Progressive
OMIM:203780	COL4A3	1285	HP:0000007	Autosomal recessive inheritance
OMIM:203780	COL4A3	1285	HP:0000518	Cataract
OMIM:203780	COL4A3	1285	HP:0000822	Hypertension
OMIM:203780	COL4A3	1285	HP:0001425	Heterogeneous
OMIM:203780	COL4A4	1286	HP:0000123	Nephritis
OMIM:203780	COL4A4	1286	HP:0000790	Hematuria
OMIM:203780	COL4A4	1286	HP:0000100	Nephrotic syndrome
OMIM:203780	COL4A4	1286	HP:0003774	Stage 5 chronic kidney disease
OMIM:203780	COL4A4	1286	HP:0011501	Anterior lenticonus
OMIM:203780	COL4A4	1286	HP:0030034	Diffuse glomerular basement membrane lamellation
OMIM:203780	COL4A4	1286	HP:0200020	Corneal erosion
OMIM:203780	COL4A4	1286	HP:0000093	Proteinuria
OMIM:203780	COL4A4	1286	HP:0000365	Hearing impairment
OMIM:203780	COL4A4	1286	HP:0000545	Myopia
OMIM:203780	COL4A4	1286	HP:0004722	Thickening of the glomerular basement membrane
OMIM:203780	COL4A4	1286	HP:0003676	Progressive
OMIM:203780	COL4A4	1286	HP:0000007	Autosomal recessive inheritance
OMIM:203780	COL4A4	1286	HP:0000518	Cataract
OMIM:203780	COL4A4	1286	HP:0000822	Hypertension
OMIM:203780	COL4A4	1286	HP:0001425	Heterogeneous
OMIM:300114	CLCN4	1183	HP:0001256	Intellectual disability, mild
OMIM:300114	CLCN4	1183	HP:0000280	Coarse facial features
OMIM:300114	CLCN4	1183	HP:0001419	X-linked recessive inheritance
OMIM:300114	CLCN4	1183	HP:0001263	Global developmental delay
OMIM:300114	CLCN4	1183	HP:0001290	Generalized hypotonia
OMIM:615193	ACTN1	87	HP:0000006	Autosomal dominant inheritance
OMIM:615193	ACTN1	87	HP:0011273	Anisocytosis
OMIM:615193	ACTN1	87	HP:0011877	Increased mean platelet volume
OMIM:615193	ACTN1	87	HP:0001873	Thrombocytopenia
OMIM:606232	SHANK3	85358	HP:0000098	Tall stature
OMIM:606232	SHANK3	85358	HP:0001004	Lymphedema
OMIM:606232	SHANK3	85358	HP:0004691	2-3 toe syndactyly
OMIM:606232	SHANK3	85358	HP:0000343	Long philtrum
OMIM:606232	SHANK3	85358	HP:0002046	Heat intolerance
OMIM:606232	SHANK3	85358	HP:0002317	Unsteady gait
OMIM:606232	SHANK3	85358	HP:0000966	Hypohidrosis
OMIM:606232	SHANK3	85358	HP:0011120	Concave nasal ridge
OMIM:606232	SHANK3	85358	HP:0000164	Abnormality of the dentition
OMIM:606232	SHANK3	85358	HP:0000717	Autism
OMIM:606232	SHANK3	85358	HP:0100540	Palpebral edema
OMIM:606232	SHANK3	85358	HP:0001176	Large hands
OMIM:606232	SHANK3	85358	HP:0000414	Bulbous nose
OMIM:606232	SHANK3	85358	HP:0002572	Episodic vomiting
OMIM:606232	SHANK3	85358	HP:0000272	Malar flattening
OMIM:606232	SHANK3	85358	HP:0000411	Protruding ear
OMIM:606232	SHANK3	85358	HP:0000331	Short chin
OMIM:606232	SHANK3	85358	HP:0001250	Seizures
OMIM:606232	SHANK3	85358	HP:0001290	Generalized hypotonia
OMIM:606232	SHANK3	85358	HP:0000689	Dental malocclusion
OMIM:606232	SHANK3	85358	HP:0000218	High palate
OMIM:606232	SHANK3	85358	HP:0000490	Deeply set eye
OMIM:606232	SHANK3	85358	HP:0003763	Bruxism
OMIM:606232	SHANK3	85358	HP:0002020	Gastroesophageal reflux
OMIM:606232	SHANK3	85358	HP:0000268	Dolichocephaly
OMIM:606232	SHANK3	85358	HP:0000817	Poor eye contact
OMIM:606232	SHANK3	85358	HP:0000293	Full cheeks
OMIM:606232	SHANK3	85358	HP:0007328	Impaired pain sensation
OMIM:606232	SHANK3	85358	HP:0000307	Pointed chin
OMIM:606232	SHANK3	85358	HP:0000336	Prominent supraorbital ridges
OMIM:606232	SHANK3	85358	HP:0000527	Long eyelashes
OMIM:606232	SHANK3	85358	HP:0000400	Macrotia
OMIM:606232	SHANK3	85358	HP:0002342	Intellectual disability, moderate
OMIM:606232	SHANK3	85358	HP:0004209	Clinodactyly of the 5th finger
OMIM:606232	SHANK3	85358	HP:0000486	Strabismus
OMIM:606232	SHANK3	85358	HP:0001800	Hypoplastic toenails
OMIM:606232	SHANK3	85358	HP:0011968	Feeding difficulties
OMIM:606232	SHANK3	85358	HP:0003745	Sporadic
OMIM:606232	SHANK3	85358	HP:0000750	Delayed speech and language development
OMIM:606232	SHANK3	85358	HP:0000508	Ptosis
OMIM:606232	SHANK3	85358	HP:0000431	Wide nasal bridge
OMIM:606232	SHANK3	85358	HP:0000710	Hyperorality
OMIM:606232	SHANK3	85358	HP:0000256	Macrocephaly
OMIM:606232	SHANK3	85358	HP:0000574	Thick eyebrow
OMIM:606232	SHANK3	85358	HP:0001265	Hyporeflexia
OMIM:606232	SHANK3	85358	HP:0002136	Broad-based gait
OMIM:606232	SHANK3	85358	HP:0001270	Motor delay
OMIM:606232	SHANK3	85358	HP:0100797	Toenail dysplasia
OMIM:606232	SHANK3	85358	HP:0001319	Neonatal hypotonia
OMIM:606232	SHANK3	85358	HP:0000286	Epicanthus
OMIM:606232	SHANK3	85358	HP:0000960	Sacral dimple
OMIM:269400	PXDN	7837	HP:0000647	Sclerocornea
OMIM:269400	PXDN	7837	HP:0000356	Abnormality of the outer ear
OMIM:269400	PXDN	7837	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:609439	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:615424	HNRNPA1	3178	HP:0003198	Myopathy
OMIM:615424	HNRNPA1	3178	HP:0010991	Abnormality of the abdominal musculature
OMIM:615424	HNRNPA1	3178	HP:0003155	Elevated alkaline phosphatase
OMIM:615424	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:615424	HNRNPA1	3178	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:615424	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:615424	HNRNPA1	3178	HP:0003701	Proximal muscle weakness
OMIM:615424	HNRNPA1	3178	HP:0100299	Muscle fiber inclusion bodies
OMIM:615424	HNRNPA1	3178	HP:0006785	Limb-girdle muscular dystrophy
ORPHA:79444	GNAS	2778	HP:0010047	Short 5th metacarpal
ORPHA:79444	GNAS	2778	HP:0001513	Obesity
ORPHA:79444	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:79444	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:79444	GNAS	2778	HP:0010044	Short 4th metacarpal
ORPHA:79444	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:79444	GNAS	2778	HP:0001249	Intellectual disability
ORPHA:79444	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:79444	GNAS	2778	HP:0002135	Basal ganglia calcification
ORPHA:79444	GNAS	2778	HP:0000518	Cataract
ORPHA:79444	GNAS	2778	HP:0000311	Round face
ORPHA:79444	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:79444	GNAS	2778	HP:0011986	Ectopic ossification
ORPHA:79444	GNAS	2778	HP:0000293	Full cheeks
ORPHA:79444	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
ORPHA:79444	GNAS	2778	HP:0012185	Constrictive median neuropathy
ORPHA:79444	GNAS	2778	HP:0004322	Short stature
ORPHA:79444	GNAS	2778	HP:0006960	Choroid plexus calcification
ORPHA:79444	GNAS	2778	HP:0008227	Pituitary resistance to thyroid hormone
ORPHA:79444	GNAS	2778	HP:0000639	Nystagmus
ORPHA:79444	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:79444	GNAS	2778	HP:0002591	Polyphagia
ORPHA:79444	GNAS	2778	HP:0000470	Short neck
ORPHA:79444	GNAS	2778	HP:0004704	Short fifth metatarsal
ORPHA:79444	GNAS	2778	HP:0000824	Growth hormone deficiency
ORPHA:79444	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:77258	TRPS1	7227	HP:0000325	Triangular face
ORPHA:77258	TRPS1	7227	HP:0010743	Short metatarsal
ORPHA:77258	TRPS1	7227	HP:0001252	Muscular hypotonia
ORPHA:77258	TRPS1	7227	HP:0002650	Scoliosis
ORPHA:77258	TRPS1	7227	HP:0000218	High palate
ORPHA:77258	TRPS1	7227	HP:0001808	Fragile nails
ORPHA:77258	TRPS1	7227	HP:0000400	Macrotia
ORPHA:77258	TRPS1	7227	HP:0000411	Protruding ear
ORPHA:77258	TRPS1	7227	HP:0004322	Short stature
ORPHA:77258	TRPS1	7227	HP:0010049	Short metacarpal
ORPHA:77258	TRPS1	7227	HP:0003307	Hyperlordosis
ORPHA:77258	TRPS1	7227	HP:0000414	Bulbous nose
ORPHA:77258	TRPS1	7227	HP:0010579	Cone-shaped epiphysis
ORPHA:77258	TRPS1	7227	HP:0001820	Leukonychia
ORPHA:77258	TRPS1	7227	HP:0011341	Long upper lip
ORPHA:77258	TRPS1	7227	HP:0000535	Sparse and thin eyebrow
ORPHA:77258	TRPS1	7227	HP:0000768	Pectus carinatum
ORPHA:77258	TRPS1	7227	HP:0000347	Micrognathia
ORPHA:77258	TRPS1	7227	HP:0002007	Frontal bossing
ORPHA:77258	TRPS1	7227	HP:0011069	Increased number of teeth
ORPHA:77258	TRPS1	7227	HP:0000653	Sparse eyelashes
ORPHA:77258	TRPS1	7227	HP:0100490	Camptodactyly of finger
ORPHA:77258	TRPS1	7227	HP:0009882	Short distal phalanx of finger
ORPHA:77258	TRPS1	7227	HP:0005743	Avascular necrosis of the capital femoral epiphysis
ORPHA:77258	TRPS1	7227	HP:0004209	Clinodactyly of the 5th finger
ORPHA:77258	TRPS1	7227	HP:0000343	Long philtrum
ORPHA:77258	TRPS1	7227	HP:0011910	Shortening of all phalanges of fingers
OMIM:119800	PITX1	5307	HP:0003829	Incomplete penetrance
OMIM:119800	PITX1	5307	HP:0001762	Talipes equinovarus
OMIM:119800	PITX1	5307	HP:0000006	Autosomal dominant inheritance
OMIM:611092	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611092	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611092	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:611092	GRIK2	2898	HP:0003593	Infantile onset
OMIM:615158	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615158	UQCRB	7381	HP:0001942	Metabolic acidosis
OMIM:615158	UQCRB	7381	HP:0001943	Hypoglycemia
OMIM:610198	DNAJC19	131118	HP:0000047	Hypospadias
OMIM:610198	DNAJC19	131118	HP:0001644	Dilated cardiomyopathy
OMIM:610198	DNAJC19	131118	HP:0001657	Prolonged QT interval
OMIM:610198	DNAJC19	131118	HP:0001635	Congestive heart failure
OMIM:610198	DNAJC19	131118	HP:0004856	Normochromic microcytic anemia
OMIM:610198	DNAJC19	131118	HP:0001249	Intellectual disability
OMIM:610198	DNAJC19	131118	HP:0000648	Optic atrophy
OMIM:610198	DNAJC19	131118	HP:0002470	Nonprogressive cerebellar ataxia
OMIM:610198	DNAJC19	131118	HP:0000007	Autosomal recessive inheritance
OMIM:610198	DNAJC19	131118	HP:0000028	Cryptorchidism
OMIM:610198	DNAJC19	131118	HP:0003344	3-Methylglutaric aciduria
OMIM:610198	DNAJC19	131118	HP:0008897	Postnatal growth retardation
OMIM:610198	DNAJC19	131118	HP:0012817	Noncompaction cardiomyopathy
OMIM:610198	DNAJC19	131118	HP:0001414	Microvesicular hepatic steatosis
OMIM:610198	DNAJC19	131118	HP:0001324	Muscle weakness
OMIM:610198	DNAJC19	131118	HP:0001511	Intrauterine growth retardation
OMIM:610198	DNAJC19	131118	HP:0003150	Glutaric aciduria
OMIM:610198	DNAJC19	131118	HP:0001645	Sudden cardiac death
OMIM:610198	DNAJC19	131118	HP:0008734	Decreased testicular size
OMIM:617053	SAMD9	54809	HP:0001270	Motor delay
OMIM:617053	SAMD9	54809	HP:0002902	Hyponatremia
OMIM:617053	SAMD9	54809	HP:0002028	Chronic diarrhea
OMIM:617053	SAMD9	54809	HP:0004322	Short stature
OMIM:617053	SAMD9	54809	HP:0002718	Recurrent bacterial infections
OMIM:617053	SAMD9	54809	HP:0000010	Recurrent urinary tract infections
OMIM:617053	SAMD9	54809	HP:0000028	Cryptorchidism
OMIM:617053	SAMD9	54809	HP:0001511	Intrauterine growth retardation
OMIM:617053	SAMD9	54809	HP:0001838	Rocker bottom foot
OMIM:617053	SAMD9	54809	HP:0000846	Adrenal insufficiency
OMIM:617053	SAMD9	54809	HP:0000006	Autosomal dominant inheritance
OMIM:617053	SAMD9	54809	HP:0002153	Hyperkalemia
OMIM:617053	SAMD9	54809	HP:0011951	Aspiration pneumonia
OMIM:617053	SAMD9	54809	HP:0010557	Overlapping fingers
OMIM:617053	SAMD9	54809	HP:0001943	Hypoglycemia
OMIM:617053	SAMD9	54809	HP:0000047	Hypospadias
OMIM:617053	SAMD9	54809	HP:0004059	Radial club hand
OMIM:617053	SAMD9	54809	HP:0001643	Patent ductus arteriosus
OMIM:617053	SAMD9	54809	HP:0000815	Hypergonadotropic hypogonadism
OMIM:617053	SAMD9	54809	HP:0000967	Petechiae
OMIM:617053	SAMD9	54809	HP:0002020	Gastroesophageal reflux
OMIM:617053	SAMD9	54809	HP:0001263	Global developmental delay
OMIM:617053	SAMD9	54809	HP:0001762	Talipes equinovarus
OMIM:617053	SAMD9	54809	HP:0030260	Microphallus
OMIM:617053	SAMD9	54809	HP:0004325	Decreased body weight
OMIM:617053	SAMD9	54809	HP:0008734	Decreased testicular size
OMIM:617053	SAMD9	54809	HP:0100806	Sepsis
OMIM:617053	SAMD9	54809	HP:0002650	Scoliosis
OMIM:602540	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:602540	GJB2	2706	HP:0003593	Infantile onset
OMIM:602540	GJB2	2706	HP:0000653	Sparse eyelashes
OMIM:602540	GJB2	2706	HP:0001761	Pes cavus
OMIM:602540	GJB2	2706	HP:0004552	Scarring alopecia of scalp
OMIM:602540	GJB2	2706	HP:0002860	Squamous cell carcinoma
OMIM:602540	GJB2	2706	HP:0011859	Punctate keratitis
OMIM:602540	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:602540	GJB2	2706	HP:0000982	Palmoplantar keratoderma
OMIM:602540	GJB2	2706	HP:0001019	Erythroderma
OMIM:602540	GJB2	2706	HP:0008064	Ichthyosis
OMIM:602540	GJB2	2706	HP:0000535	Sparse and thin eyebrow
OMIM:602540	GJB2	2706	HP:0000561	Absent eyelashes
OMIM:613122	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613122	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:155950	LEMD3	23592	HP:0003745	Sporadic
OMIM:155950	LEMD3	23592	HP:0003676	Progressive
OMIM:155950	LEMD3	23592	HP:0011001	Increased bone mineral density
OMIM:193230	KCNJ13	3769	HP:0000006	Autosomal dominant inheritance
OMIM:193230	KCNJ13	3769	HP:0000655	Vitreoretinal degeneration
OMIM:193230	KCNJ13	3769	HP:0000518	Cataract
OMIM:168500	MSX2	4488	HP:0000204	Cleft upper lip
OMIM:168500	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:168500	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168500	MSX2	4488	HP:0000175	Cleft palate
OMIM:168500	MSX2	4488	HP:0001425	Heterogeneous
OMIM:168500	MSX2	4488	HP:0007385	Aplasia cutis congenita of scalp
OMIM:168500	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:168500	MSX2	4488	HP:0002084	Encephalocele
OMIM:168500	MSX2	4488	HP:0002315	Headache
OMIM:168500	MSX2	4488	HP:0001250	Seizures
ORPHA:79234	UGT1A1	54658	HP:0001343	Kernicterus
ORPHA:79234	UGT1A1	54658	HP:0003265	Neonatal hyperbilirubinemia
ORPHA:79234	UGT1A1	54658	HP:0006579	Prolonged neonatal jaundice
ORPHA:79234	UGT1A1	54658	HP:0008282	Unconjugated hyperbilirubinemia
ORPHA:79234	UGT1A1	54658	HP:0008947	Infantile muscular hypotonia
ORPHA:79234	UGT1A1	54658	HP:0001080	Biliary tract abnormality
OMIM:614702	MTO1	25821	HP:0001942	Metabolic acidosis
OMIM:614702	MTO1	25821	HP:0003577	Congenital onset
OMIM:614702	MTO1	25821	HP:0001943	Hypoglycemia
OMIM:614702	MTO1	25821	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614702	MTO1	25821	HP:0002465	Poor speech
OMIM:614702	MTO1	25821	HP:0001518	Small for gestational age
OMIM:614702	MTO1	25821	HP:0002151	Increased serum lactate
OMIM:614702	MTO1	25821	HP:0001508	Failure to thrive
OMIM:614702	MTO1	25821	HP:0001290	Generalized hypotonia
OMIM:614702	MTO1	25821	HP:0011968	Feeding difficulties
OMIM:614702	MTO1	25821	HP:0100543	Cognitive impairment
OMIM:614702	MTO1	25821	HP:0000007	Autosomal recessive inheritance
OMIM:614702	MTO1	25821	HP:0011675	Arrhythmia
OMIM:614702	MTO1	25821	HP:0001263	Global developmental delay
OMIM:614702	MTO1	25821	HP:0003128	Lactic acidosis
OMIM:300986	HNRNPH2	3188	HP:0011968	Feeding difficulties
OMIM:300986	HNRNPH2	3188	HP:0000601	Hypotelorism
OMIM:300986	HNRNPH2	3188	HP:0001276	Hypertonia
OMIM:300986	HNRNPH2	3188	HP:0001763	Pes planus
OMIM:300986	HNRNPH2	3188	HP:0002019	Constipation
OMIM:300986	HNRNPH2	3188	HP:0001288	Gait disturbance
OMIM:300986	HNRNPH2	3188	HP:0000286	Epicanthus
OMIM:300986	HNRNPH2	3188	HP:0001388	Joint laxity
OMIM:300986	HNRNPH2	3188	HP:0000739	Anxiety
OMIM:300986	HNRNPH2	3188	HP:0000729	Autistic behavior
OMIM:300986	HNRNPH2	3188	HP:0002020	Gastroesophageal reflux
OMIM:300986	HNRNPH2	3188	HP:0003307	Hyperlordosis
OMIM:300986	HNRNPH2	3188	HP:0004322	Short stature
OMIM:300986	HNRNPH2	3188	HP:0001263	Global developmental delay
OMIM:300986	HNRNPH2	3188	HP:0002376	Developmental regression
OMIM:300986	HNRNPH2	3188	HP:0000154	Wide mouth
OMIM:300986	HNRNPH2	3188	HP:0001290	Generalized hypotonia
OMIM:300986	HNRNPH2	3188	HP:0012471	Thick vermilion border
OMIM:300986	HNRNPH2	3188	HP:0000718	Aggressive behavior
OMIM:300986	HNRNPH2	3188	HP:0000218	High palate
OMIM:300986	HNRNPH2	3188	HP:0001251	Ataxia
OMIM:300986	HNRNPH2	3188	HP:0001508	Failure to thrive
OMIM:300986	HNRNPH2	3188	HP:0001249	Intellectual disability
OMIM:300986	HNRNPH2	3188	HP:0000430	Underdeveloped nasal alae
OMIM:300986	HNRNPH2	3188	HP:0001250	Seizures
OMIM:300986	HNRNPH2	3188	HP:0001423	X-linked dominant inheritance
OMIM:300986	HNRNPH2	3188	HP:0002650	Scoliosis
OMIM:300986	HNRNPH2	3188	HP:0000347	Micrognathia
OMIM:300986	HNRNPH2	3188	HP:0000722	Obsessive-compulsive behavior
OMIM:300986	HNRNPH2	3188	HP:0012745	Short palpebral fissure
OMIM:300986	HNRNPH2	3188	HP:0000316	Hypertelorism
OMIM:300986	HNRNPH2	3188	HP:0000322	Short philtrum
OMIM:275355	PTEN	5728	HP:0000007	Autosomal recessive inheritance
OMIM:275355	PTEN	5728	HP:0002860	Squamous cell carcinoma
OMIM:275355	ING1	3621	HP:0000007	Autosomal recessive inheritance
OMIM:275355	ING1	3621	HP:0002860	Squamous cell carcinoma
OMIM:275355	TNFRSF10B	8795	HP:0000007	Autosomal recessive inheritance
OMIM:275355	TNFRSF10B	8795	HP:0002860	Squamous cell carcinoma
OMIM:218600	RECQL4	9401	HP:0000077	Abnormality of the kidney
OMIM:218600	RECQL4	9401	HP:0000452	Choanal stenosis
OMIM:218600	RECQL4	9401	HP:0005201	Anomalous splenoportal venous system
OMIM:218600	RECQL4	9401	HP:0003022	Hypoplasia of the ulna
OMIM:218600	RECQL4	9401	HP:0000175	Cleft palate
OMIM:218600	RECQL4	9401	HP:0001545	Anteriorly placed anus
OMIM:218600	RECQL4	9401	HP:0000430	Underdeveloped nasal alae
OMIM:218600	RECQL4	9401	HP:0000486	Strabismus
OMIM:218600	RECQL4	9401	HP:0000648	Optic atrophy
OMIM:218600	RECQL4	9401	HP:0011318	Bicoronal synostosis
OMIM:218600	RECQL4	9401	HP:0000902	Rib fusion
OMIM:218600	RECQL4	9401	HP:0000426	Prominent nasal bridge
OMIM:218600	RECQL4	9401	HP:0004871	Perineal fistula
OMIM:218600	RECQL4	9401	HP:0000143	Rectovaginal fistula
OMIM:218600	RECQL4	9401	HP:0000286	Epicanthus
OMIM:218600	RECQL4	9401	HP:0004322	Short stature
OMIM:218600	RECQL4	9401	HP:0000244	Brachyturricephaly
OMIM:218600	RECQL4	9401	HP:0001274	Agenesis of corpus callosum
OMIM:218600	RECQL4	9401	HP:0000405	Conductive hearing impairment
OMIM:218600	RECQL4	9401	HP:0003974	Absent radius
OMIM:218600	RECQL4	9401	HP:0003298	Spina bifida occulta
OMIM:218600	RECQL4	9401	HP:0000218	High palate
OMIM:218600	RECQL4	9401	HP:0002996	Limited elbow movement
OMIM:218600	RECQL4	9401	HP:0004231	Carpal bone aplasia
OMIM:218600	RECQL4	9401	HP:0001249	Intellectual disability
OMIM:218600	RECQL4	9401	HP:0002650	Scoliosis
OMIM:218600	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:218600	RECQL4	9401	HP:0005886	Aphalangy of the hands
OMIM:218600	RECQL4	9401	HP:0000316	Hypertelorism
OMIM:218600	RECQL4	9401	HP:0000160	Narrow mouth
OMIM:218600	RECQL4	9401	HP:0000193	Bifid uvula
OMIM:218600	RECQL4	9401	HP:0004440	Coronal craniosynostosis
OMIM:218600	RECQL4	9401	HP:0002984	Hypoplasia of the radius
OMIM:218600	RECQL4	9401	HP:0006467	Limited shoulder movement
OMIM:218600	RECQL4	9401	HP:0009702	Carpal synostosis
OMIM:218600	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:218600	RECQL4	9401	HP:0002126	Polymicrogyria
OMIM:218600	RECQL4	9401	HP:0001627	Abnormal heart morphology
OMIM:218600	RECQL4	9401	HP:0002023	Anal atresia
OMIM:218600	RECQL4	9401	HP:0003065	Patellar hypoplasia
OMIM:218600	RECQL4	9401	HP:0000494	Downslanted palpebral fissures
OMIM:218600	RECQL4	9401	HP:0000238	Hydrocephalus
OMIM:218600	RECQL4	9401	HP:0000347	Micrognathia
OMIM:218600	RECQL4	9401	HP:0003468	Abnormal vertebral morphology
OMIM:218600	RECQL4	9401	HP:0007452	Midface capillary hemangioma
OMIM:218600	RECQL4	9401	HP:0004442	Sagittal craniosynostosis
OMIM:218600	RECQL4	9401	HP:0004425	Flat forehead
OMIM:218600	RECQL4	9401	HP:0001250	Seizures
OMIM:218600	RECQL4	9401	HP:0003031	Ulnar bowing
OMIM:218600	RECQL4	9401	HP:0010048	Aplasia of metacarpal bones
OMIM:218600	RECQL4	9401	HP:0005792	Short humerus
OMIM:218600	RECQL4	9401	HP:0000368	Low-set, posteriorly rotated ears
OMIM:218600	RECQL4	9401	HP:0000545	Myopia
OMIM:218600	RECQL4	9401	HP:0004443	Lambdoidal craniosynostosis
OMIM:613094	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613094	GDF6	392255	HP:0010469	Absent testis
OMIM:613094	GDF6	392255	HP:0000568	Microphthalmia
OMIM:614974	CYP26C1	340665	HP:0000007	Autosomal recessive inheritance
ORPHA:1048	VANGL2	57216	HP:0002323	Anencephaly
ORPHA:1048	VANGL2	57216	HP:0008207	Primary adrenal insufficiency
ORPHA:1048	MTHFR	4524	HP:0002323	Anencephaly
ORPHA:1048	MTHFR	4524	HP:0008207	Primary adrenal insufficiency
ORPHA:79406	COL17A1	1308	HP:0007410	Palmoplantar hyperhidrosis
ORPHA:79406	COL17A1	1308	HP:0008066	Abnormal blistering of the skin
ORPHA:79406	COL17A1	1308	HP:0008404	Nail dystrophy
ORPHA:79406	COL17A1	1308	HP:0007455	Adermatoglyphia
ORPHA:79406	COL17A1	1308	HP:0001075	Atrophic scars
OMIM:243800	UBR1	197131	HP:0002209	Sparse scalp hair
OMIM:243800	UBR1	197131	HP:0001249	Intellectual disability
OMIM:243800	UBR1	197131	HP:0001508	Failure to thrive
OMIM:243800	UBR1	197131	HP:0008665	Clitoral hypertrophy
OMIM:243800	UBR1	197131	HP:0002253	Colonic diverticula
OMIM:243800	UBR1	197131	HP:0002750	Delayed skeletal maturation
OMIM:243800	UBR1	197131	HP:0000407	Sensorineural hearing impairment
OMIM:243800	UBR1	197131	HP:0001511	Intrauterine growth retardation
OMIM:243800	UBR1	197131	HP:0000054	Micropenis
OMIM:243800	UBR1	197131	HP:0000954	Single transverse palmar crease
OMIM:243800	UBR1	197131	HP:0002023	Anal atresia
OMIM:243800	UBR1	197131	HP:0000007	Autosomal recessive inheritance
OMIM:243800	UBR1	197131	HP:0001290	Generalized hypotonia
OMIM:243800	UBR1	197131	HP:0002236	Frontal upsweep of hair
OMIM:243800	UBR1	197131	HP:0002024	Malabsorption
OMIM:243800	UBR1	197131	HP:0004209	Clinodactyly of the 5th finger
OMIM:243800	UBR1	197131	HP:0012050	Anasarca
OMIM:243800	UBR1	197131	HP:0000126	Hydronephrosis
OMIM:243800	UBR1	197131	HP:0000957	Cafe-au-lait spot
OMIM:243800	UBR1	197131	HP:0001629	Ventricular septal defect
OMIM:243800	UBR1	197131	HP:0000028	Cryptorchidism
OMIM:243800	UBR1	197131	HP:0001696	Situs inversus totalis
OMIM:243800	UBR1	197131	HP:0001388	Joint laxity
OMIM:243800	UBR1	197131	HP:0003819	Death in childhood
OMIM:243800	UBR1	197131	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:243800	UBR1	197131	HP:0002557	Hypoplastic nipples
OMIM:243800	UBR1	197131	HP:0001362	Calvarial skull defect
OMIM:243800	UBR1	197131	HP:0004322	Short stature
OMIM:243800	UBR1	197131	HP:0007385	Aplasia cutis congenita of scalp
OMIM:243800	UBR1	197131	HP:0006349	Agenesis of permanent teeth
OMIM:243800	UBR1	197131	HP:0000486	Strabismus
OMIM:243800	UBR1	197131	HP:0008716	Urethrovaginal fistula
OMIM:243800	UBR1	197131	HP:0000047	Hypospadias
OMIM:243800	UBR1	197131	HP:0000444	Convex nasal ridge
OMIM:243800	UBR1	197131	HP:0001518	Small for gestational age
OMIM:243800	UBR1	197131	HP:0001153	Septate vagina
OMIM:243800	UBR1	197131	HP:0002901	Hypocalcemia
OMIM:243800	UBR1	197131	HP:0006334	Hypoplasia of the primary teeth
OMIM:243800	UBR1	197131	HP:0000252	Microcephaly
OMIM:243800	UBR1	197131	HP:0000821	Hypothyroidism
OMIM:243800	UBR1	197131	HP:0001545	Anteriorly placed anus
OMIM:243800	UBR1	197131	HP:0001738	Exocrine pancreatic insufficiency
OMIM:243800	UBR1	197131	HP:0001631	Atrial septal defect
OMIM:243800	UBR1	197131	HP:0000430	Underdeveloped nasal alae
OMIM:243800	UBR1	197131	HP:0001092	Absent lacrimal punctum
OMIM:243800	UBR1	197131	HP:0000143	Rectovaginal fistula
OMIM:243800	UBR1	197131	HP:0000819	Diabetes mellitus
OMIM:243800	UBR1	197131	HP:0001597	Abnormality of the nail
OMIM:243800	UBR1	197131	HP:0002286	Fair hair
OMIM:243800	UBR1	197131	HP:0005498	Midline skin dimples over anterior/posterior fontanelles
ORPHA:3002	FCGR2C	9103	HP:0004420	Arterial thrombosis
ORPHA:3002	FCGR2C	9103	HP:0001907	Thromboembolism
ORPHA:3002	FCGR2C	9103	HP:0001873	Thrombocytopenia
ORPHA:3002	FCGR2C	9103	HP:0000967	Petechiae
OMIM:616794	SLC25A26	115286	HP:0003828	Variable expressivity
OMIM:616794	SLC25A26	115286	HP:0000007	Autosomal recessive inheritance
OMIM:616794	SLC25A26	115286	HP:0001263	Global developmental delay
OMIM:616794	SLC25A26	115286	HP:0004396	Poor appetite
OMIM:616794	SLC25A26	115286	HP:0003593	Infantile onset
OMIM:616794	SLC25A26	115286	HP:0011923	Decreased activity of mitochondrial complex I
OMIM:616794	SLC25A26	115286	HP:0002878	Respiratory failure
OMIM:616794	SLC25A26	115286	HP:0001635	Congestive heart failure
OMIM:616794	SLC25A26	115286	HP:0001561	Polyhydramnios
OMIM:616794	SLC25A26	115286	HP:0002027	Abdominal pain
OMIM:616794	SLC25A26	115286	HP:0002151	Increased serum lactate
OMIM:616794	SLC25A26	115286	HP:0001558	Decreased fetal movement
OMIM:616794	SLC25A26	115286	HP:0004900	Severe lactic acidosis
OMIM:616794	SLC25A26	115286	HP:0001324	Muscle weakness
OMIM:616794	SLC25A26	115286	HP:0003200	Ragged-red muscle fibers
OMIM:616794	SLC25A26	115286	HP:0008347	Decreased activity of mitochondrial complex IV
OMIM:616794	SLC25A26	115286	HP:0012378	Fatigue
OMIM:605543	SNCA	6622	HP:0001278	Orthostatic hypotension
OMIM:605543	SNCA	6622	HP:0003596	Middle age onset
OMIM:605543	SNCA	6622	HP:0100315	Lewy bodies
OMIM:605543	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:605543	SNCA	6622	HP:0003678	Rapidly progressive
OMIM:605543	SNCA	6622	HP:0001300	Parkinsonism
OMIM:605543	SNCA	6622	HP:0000726	Dementia
OMIM:605543	SNCA	6622	HP:0011999	Paranoia
OMIM:605543	SNCA	6622	HP:0001824	Weight loss
OMIM:605543	SNCA	6622	HP:0002459	Dysautonomia
OMIM:605543	SNCA	6622	HP:0000738	Hallucinations
ORPHA:888	IRF6	3664	HP:0000175	Cleft palate
ORPHA:888	IRF6	3664	HP:0000196	Lower lip pit
ORPHA:888	GRHL3	57822	HP:0000175	Cleft palate
ORPHA:888	GRHL3	57822	HP:0000196	Lower lip pit
OMIM:313900	WAS	7454	HP:0003212	Increased IgE level
OMIM:313900	WAS	7454	HP:0000978	Bruising susceptibility
OMIM:313900	WAS	7454	HP:0005537	Decreased mean platelet volume
OMIM:313900	WAS	7454	HP:0004854	Intermittent thrombocytopenia
OMIM:313900	WAS	7454	HP:0000421	Epistaxis
OMIM:313900	WAS	7454	HP:0000964	Eczema
OMIM:313900	WAS	7454	HP:0000967	Petechiae
OMIM:313900	WAS	7454	HP:0001905	Congenital thrombocytopenia
OMIM:313900	WAS	7454	HP:0003011	Abnormality of the musculature
OMIM:313900	WAS	7454	HP:0001419	X-linked recessive inheritance
OMIM:313900	WAS	7454	HP:0005261	Joint hemorrhage
OMIM:313900	WAS	7454	HP:0003261	Increased IgA level
ORPHA:1412	NOG	9241	HP:0004322	Short stature
ORPHA:1412	NOG	9241	HP:0008368	Tarsal synostosis
ORPHA:1412	NOG	9241	HP:0003028	Abnormality of the ankles
OMIM:300448	ATRX	546	HP:0011903	Hemoglobin H
OMIM:300448	ATRX	546	HP:0002863	Myelodysplasia
OMIM:300448	ATRX	546	HP:0004840	Hypochromic microcytic anemia
OMIM:300448	ATRX	546	HP:0011907	Reduced alpha/beta synthesis ratio
OMIM:614565	GPR179	440435	HP:0000505	Visual impairment
OMIM:614565	GPR179	440435	HP:0000639	Nystagmus
OMIM:614565	GPR179	440435	HP:0000545	Myopia
OMIM:614565	GPR179	440435	HP:0007663	Reduced visual acuity
OMIM:614565	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:614565	GPR179	440435	HP:0001419	X-linked recessive inheritance
OMIM:614565	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:615396	MYBPC3	4607	HP:0030682	Left ventricular noncompaction
OMIM:615396	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
ORPHA:168563	DHH	50846	HP:0003434	Sensory ataxic neuropathy
ORPHA:168563	DHH	50846	HP:0040171	Decreased serum testosterone level
ORPHA:168563	DHH	50846	HP:0003130	Abnormal peripheral myelination
ORPHA:168563	DHH	50846	HP:0006984	Distal sensory loss of all modalities
ORPHA:168563	DHH	50846	HP:0000837	Increased circulating gonadotropin level
ORPHA:168563	DHH	50846	HP:0000055	Abnormality of female external genitalia
ORPHA:168563	DHH	50846	HP:0000013	Hypoplasia of the uterus
ORPHA:168563	DHH	50846	HP:0003202	Skeletal muscle atrophy
ORPHA:168563	DHH	50846	HP:0010464	Streak ovary
ORPHA:168563	DHH	50846	HP:0000142	Abnormality of the vagina
ORPHA:168563	DHH	50846	HP:0000026	Male hypogonadism
ORPHA:168563	DHH	50846	HP:0000789	Infertility
ORPHA:168563	DHH	50846	HP:0000786	Primary amenorrhea
ORPHA:168563	DHH	50846	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:168563	DHH	50846	HP:0008214	Decreased serum estradiol
ORPHA:168563	DHH	50846	HP:0002460	Distal muscle weakness
ORPHA:168563	DHH	50846	HP:0001315	Reduced tendon reflexes
ORPHA:168563	DHH	50846	HP:0001271	Polyneuropathy
ORPHA:168563	DHH	50846	HP:0007141	Sensorimotor neuropathy
ORPHA:168563	DHH	50846	HP:0008723	Gonadal dysgenesis with female appearance, male
ORPHA:168563	DHH	50846	HP:0008715	Testicular dysgenesis
OMIM:614866	PEX2	5828	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX2	5828	HP:0001284	Areflexia
OMIM:614866	PEX2	5828	HP:0002126	Polymicrogyria
OMIM:614866	PEX2	5828	HP:0001508	Failure to thrive
OMIM:614866	PEX2	5828	HP:0000239	Large fontanelles
OMIM:614866	PEX2	5828	HP:0000347	Micrognathia
OMIM:614866	PEX2	5828	HP:0001627	Abnormal heart morphology
OMIM:614866	PEX2	5828	HP:0000518	Cataract
OMIM:614866	PEX2	5828	HP:0008935	Generalized neonatal hypotonia
OMIM:614866	PEX2	5828	HP:0000348	High forehead
OMIM:614866	PEX2	5828	HP:0001093	Optic nerve dysplasia
OMIM:614866	PEX2	5828	HP:0000028	Cryptorchidism
OMIM:614866	PEX2	5828	HP:0000316	Hypertelorism
OMIM:614866	PEX2	5828	HP:0000107	Renal cyst
OMIM:614866	PEX2	5828	HP:0001401	Intrahepatic biliary dysgenesis
OMIM:614866	PEX2	5828	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX2	5828	HP:0002764	Stippled chondral calcification
OMIM:614866	PEX2	5828	HP:0001088	Brushfield spots
OMIM:614866	PEX2	5828	HP:0001250	Seizures
OMIM:614866	PEX2	5828	HP:0012385	Camptodactyly
OMIM:614866	PEX2	5828	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX2	5828	HP:0000286	Epicanthus
OMIM:614866	PEX2	5828	HP:0011039	Abnormality of the helix
OMIM:614866	PEX2	5828	HP:0000175	Cleft palate
OMIM:614866	PEX2	5828	HP:0001762	Talipes equinovarus
OMIM:614866	PEX2	5828	HP:0001249	Intellectual disability
OMIM:614866	PEX2	5828	HP:0001744	Splenomegaly
OMIM:614866	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX2	5828	HP:0001840	Metatarsus adductus
OMIM:614866	PEX2	5828	HP:0007227	Macrogyria
OMIM:614866	PEX2	5828	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX2	5828	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX2	5828	HP:0008665	Clitoral hypertrophy
OMIM:614866	PEX2	5828	HP:0100540	Palpebral edema
OMIM:614866	PEX2	5828	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX2	5828	HP:0002033	Poor suck
OMIM:614866	PEX2	5828	HP:0001290	Generalized hypotonia
OMIM:614866	PEX2	5828	HP:0000311	Round face
OMIM:614866	PEX2	5828	HP:0000369	Low-set ears
OMIM:614866	PEX2	5828	HP:0012368	Flat face
OMIM:614866	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614866	PEX2	5828	HP:0002967	Cubitus valgus
OMIM:614866	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614866	PEX2	5828	HP:0000952	Jaundice
OMIM:614866	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:600175	TRPV4	59341	HP:0003693	Distal amyotrophy
OMIM:600175	TRPV4	59341	HP:0002804	Arthrogryposis multiplex congenita
OMIM:600175	TRPV4	59341	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600175	TRPV4	59341	HP:0003273	Hip contracture
OMIM:600175	TRPV4	59341	HP:0003680	Nonprogressive
OMIM:600175	TRPV4	59341	HP:0006380	Knee flexion contracture
OMIM:600175	TRPV4	59341	HP:0008956	Proximal lower limb amyotrophy
OMIM:600175	TRPV4	59341	HP:0008964	Nonprogressive muscular atrophy
OMIM:600175	TRPV4	59341	HP:0002460	Distal muscle weakness
OMIM:600175	TRPV4	59341	HP:0002808	Kyphosis
OMIM:600175	TRPV4	59341	HP:0001558	Decreased fetal movement
OMIM:600175	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:600175	TRPV4	59341	HP:0001763	Pes planus
OMIM:600175	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:600175	TRPV4	59341	HP:0001762	Talipes equinovarus
OMIM:600175	TRPV4	59341	HP:0003307	Hyperlordosis
OMIM:600175	TRPV4	59341	HP:0002987	Elbow flexion contracture
OMIM:600175	TRPV4	59341	HP:0003828	Variable expressivity
OMIM:600175	TRPV4	59341	HP:0002650	Scoliosis
OMIM:600175	TRPV4	59341	HP:0007269	Spinal muscular atrophy
OMIM:600175	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:600175	TRPV4	59341	HP:0001284	Areflexia
OMIM:612563	RPS7	6201	HP:0000215	Thick upper lip vermilion
OMIM:612563	RPS7	6201	HP:0003196	Short nose
OMIM:612563	RPS7	6201	HP:0000316	Hypertelorism
OMIM:612563	RPS7	6201	HP:0001875	Neutropenia
OMIM:612563	RPS7	6201	HP:0004322	Short stature
OMIM:612563	RPS7	6201	HP:0000431	Wide nasal bridge
OMIM:607200	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:607200	DUOX2	50506	HP:0000851	Congenital hypothyroidism
OMIM:261640	PTS	5805	HP:0001300	Parkinsonism
OMIM:261640	PTS	5805	HP:0004923	Hyperphenylalaninemia
OMIM:261640	PTS	5805	HP:0001263	Global developmental delay
OMIM:261640	PTS	5805	HP:0001251	Ataxia
OMIM:261640	PTS	5805	HP:0001337	Tremor
OMIM:261640	PTS	5805	HP:0003593	Infantile onset
OMIM:261640	PTS	5805	HP:0001332	Dystonia
OMIM:261640	PTS	5805	HP:0003781	Excessive salivation
OMIM:261640	PTS	5805	HP:0001954	Episodic fever
OMIM:261640	PTS	5805	HP:0002063	Rigidity
OMIM:261640	PTS	5805	HP:0001518	Small for gestational age
OMIM:261640	PTS	5805	HP:0008936	Muscular hypotonia of the trunk
OMIM:261640	PTS	5805	HP:0002344	Progressive neurologic deterioration
OMIM:261640	PTS	5805	HP:0002067	Bradykinesia
OMIM:261640	PTS	5805	HP:0006887	Intellectual disability, progressive
OMIM:261640	PTS	5805	HP:0002033	Poor suck
OMIM:261640	PTS	5805	HP:0001250	Seizures
OMIM:261640	PTS	5805	HP:0001347	Hyperreflexia
OMIM:261640	PTS	5805	HP:0000737	Irritability
OMIM:261640	PTS	5805	HP:0001266	Choreoathetosis
OMIM:261640	PTS	5805	HP:0000252	Microcephaly
OMIM:261640	PTS	5805	HP:0000007	Autosomal recessive inheritance
OMIM:261640	PTS	5805	HP:0001262	Excessive daytime somnolence
OMIM:261640	PTS	5805	HP:0002015	Dysphagia
OMIM:300918	MBTPS2	51360	HP:0008392	Subungual hyperkeratosis
OMIM:300918	MBTPS2	51360	HP:0001419	X-linked recessive inheritance
OMIM:300918	MBTPS2	51360	HP:0001036	Parakeratosis
OMIM:300918	MBTPS2	51360	HP:0025092	Epidermal acanthosis
OMIM:300918	MBTPS2	51360	HP:0007418	Alopecia totalis
OMIM:300918	MBTPS2	51360	HP:0000972	Palmoplantar hyperkeratosis
OMIM:300918	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
OMIM:607812	SEC23A	10484	HP:0000260	Wide anterior fontanel
OMIM:607812	SEC23A	10484	HP:0000685	Hypoplasia of teeth
OMIM:607812	SEC23A	10484	HP:0000319	Smooth philtrum
OMIM:607812	SEC23A	10484	HP:0000219	Thin upper lip vermilion
OMIM:607812	SEC23A	10484	HP:0008070	Sparse hair
OMIM:607812	SEC23A	10484	HP:0000431	Wide nasal bridge
OMIM:607812	SEC23A	10484	HP:0000463	Anteverted nares
OMIM:607812	SEC23A	10484	HP:0008808	High iliac wings
OMIM:607812	SEC23A	10484	HP:0001388	Joint laxity
OMIM:607812	SEC23A	10484	HP:0000256	Macrocephaly
OMIM:607812	SEC23A	10484	HP:0000336	Prominent supraorbital ridges
OMIM:607812	SEC23A	10484	HP:0000272	Malar flattening
OMIM:607812	SEC23A	10484	HP:0000316	Hypertelorism
OMIM:607812	SEC23A	10484	HP:0000670	Carious teeth
OMIM:607812	SEC23A	10484	HP:0002007	Frontal bossing
OMIM:607812	SEC23A	10484	HP:0007648	Punctate cataract
OMIM:607812	SEC23A	10484	HP:0002208	Coarse hair
OMIM:607812	SEC23A	10484	HP:0008444	Posterior wedging of vertebral bodies
OMIM:607812	SEC23A	10484	HP:0010695	Sutural cataract
OMIM:607812	SEC23A	10484	HP:0000343	Long philtrum
OMIM:607812	SEC23A	10484	HP:0000684	Delayed eruption of teeth
OMIM:607812	SEC23A	10484	HP:0000007	Autosomal recessive inheritance
OMIM:607812	SEC23A	10484	HP:0005306	Capillary hemangiomas
OMIM:607812	SEC23A	10484	HP:0000028	Cryptorchidism
OMIM:607812	SEC23A	10484	HP:0002868	Narrow iliac wings
OMIM:607812	SEC23A	10484	HP:0004322	Short stature
OMIM:607812	SEC23A	10484	HP:0001763	Pes planus
OMIM:607812	SEC23A	10484	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:607812	SEC23A	10484	HP:0002650	Scoliosis
OMIM:607812	SEC23A	10484	HP:0011800	Midface retrusion
OMIM:607812	SEC23A	10484	HP:0000154	Wide mouth
OMIM:607812	SEC23A	10484	HP:0002299	Brittle hair
OMIM:607812	SEC23A	10484	HP:0005336	Forehead hyperpigmentation
OMIM:617223	PPA2	27068	HP:0000007	Autosomal recessive inheritance
OMIM:617223	PPA2	27068	HP:0001685	Myocardial fibrosis
OMIM:616460	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:616460	EDC3	80153	HP:0001249	Intellectual disability
OMIM:616460	EDC3	80153	HP:0000252	Microcephaly
OMIM:616460	EDC3	80153	HP:0001256	Intellectual disability, mild
OMIM:616460	EDC3	80153	HP:0003593	Infantile onset
OMIM:614327	BAP1	8314	HP:0030078	Lung adenocarcinoma
OMIM:614327	BAP1	8314	HP:0012056	Cutaneous melanoma
OMIM:614327	BAP1	8314	HP:0000006	Autosomal dominant inheritance
OMIM:614327	BAP1	8314	HP:0002858	Meningioma
OMIM:614327	BAP1	8314	HP:0007716	Intraocular melanoma
OMIM:616834	MSMO1	6307	HP:0000007	Autosomal recessive inheritance
OMIM:616834	MSMO1	6307	HP:0001508	Failure to thrive
OMIM:616834	MSMO1	6307	HP:0001256	Intellectual disability, mild
OMIM:616834	MSMO1	6307	HP:0003765	Psoriasiform dermatitis
OMIM:616834	MSMO1	6307	HP:0004322	Short stature
OMIM:616834	MSMO1	6307	HP:0000498	Blepharitis
OMIM:616834	MSMO1	6307	HP:0002750	Delayed skeletal maturation
OMIM:616834	MSMO1	6307	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:616834	MSMO1	6307	HP:0008064	Ichthyosis
OMIM:616834	MSMO1	6307	HP:0000823	Delayed puberty
OMIM:616834	MSMO1	6307	HP:0001263	Global developmental delay
OMIM:616834	MSMO1	6307	HP:0003146	Hypocholesterolemia
OMIM:616834	MSMO1	6307	HP:0000519	Congenital cataract
OMIM:616834	MSMO1	6307	HP:0002829	Arthralgia
OMIM:616834	MSMO1	6307	HP:0000252	Microcephaly
OMIM:300210	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:300210	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:250950	AUH	549	HP:0100543	Cognitive impairment
OMIM:250950	AUH	549	HP:0001347	Hyperreflexia
OMIM:250950	AUH	549	HP:0001942	Metabolic acidosis
OMIM:250950	AUH	549	HP:0002059	Cerebral atrophy
OMIM:250950	AUH	549	HP:0001270	Motor delay
OMIM:250950	AUH	549	HP:0000750	Delayed speech and language development
OMIM:250950	AUH	549	HP:0002352	Leukoencephalopathy
OMIM:250950	AUH	549	HP:0002373	Febrile seizures
OMIM:250950	AUH	549	HP:0000007	Autosomal recessive inheritance
OMIM:250950	AUH	549	HP:0001332	Dystonia
OMIM:250950	AUH	549	HP:0002305	Athetosis
OMIM:250950	AUH	549	HP:0002510	Spastic tetraplegia
OMIM:250950	AUH	549	HP:0000020	Urinary incontinence
OMIM:250950	AUH	549	HP:0003593	Infantile onset
OMIM:250950	AUH	549	HP:0001260	Dysarthria
OMIM:250950	AUH	549	HP:0000736	Short attention span
OMIM:250950	AUH	549	HP:0003812	Phenotypic variability
OMIM:250950	AUH	549	HP:0001508	Failure to thrive
OMIM:250950	AUH	549	HP:0001251	Ataxia
OMIM:250950	AUH	549	HP:0000648	Optic atrophy
OMIM:250950	AUH	549	HP:0003535	3-Methylglutaconic aciduria
OMIM:608643	DDC	1644	HP:0000712	Emotional lability
OMIM:608643	DDC	1644	HP:0001347	Hyperreflexia
OMIM:608643	DDC	1644	HP:0003487	Babinski sign
OMIM:608643	DDC	1644	HP:0000007	Autosomal recessive inheritance
OMIM:608643	DDC	1644	HP:0003785	Decreased CSF homovanillic acid
OMIM:608643	DDC	1644	HP:0002451	Limb dystonia
OMIM:608643	DDC	1644	HP:0003593	Infantile onset
OMIM:608643	DDC	1644	HP:0000737	Irritability
OMIM:608643	DDC	1644	HP:0000975	Hyperhidrosis
OMIM:608643	DDC	1644	HP:0005964	Intermittent hypothermia
OMIM:608643	DDC	1644	HP:0001742	Nasal obstruction
OMIM:608643	DDC	1644	HP:0002509	Limb hypertonia
OMIM:608643	DDC	1644	HP:0008872	Feeding difficulties in infancy
OMIM:608643	DDC	1644	HP:0000508	Ptosis
OMIM:608643	DDC	1644	HP:0005968	Temperature instability
OMIM:608643	DDC	1644	HP:0002360	Sleep disturbance
OMIM:608643	DDC	1644	HP:0002615	Hypotension
OMIM:608643	DDC	1644	HP:0002019	Constipation
OMIM:608643	DDC	1644	HP:0002014	Diarrhea
OMIM:608643	DDC	1644	HP:0000616	Miosis
OMIM:608643	DDC	1644	HP:0001266	Choreoathetosis
OMIM:608643	DDC	1644	HP:0001263	Global developmental delay
OMIM:608643	DDC	1644	HP:0001336	Myoclonus
OMIM:608643	DDC	1644	HP:0002020	Gastroesophageal reflux
OMIM:608643	DDC	1644	HP:0008936	Muscular hypotonia of the trunk
ORPHA:63446	IHH	3549	HP:0002750	Delayed skeletal maturation
ORPHA:63446	IHH	3549	HP:0004279	Short palm
ORPHA:63446	IHH	3549	HP:0003307	Hyperlordosis
ORPHA:63446	IHH	3549	HP:0004322	Short stature
ORPHA:63446	IHH	3549	HP:0001821	Broad nail
ORPHA:63446	IHH	3549	HP:0002970	Genu varum
ORPHA:63446	IHH	3549	HP:0002652	Skeletal dysplasia
ORPHA:63446	IHH	3549	HP:0003300	Ovoid vertebral bodies
ORPHA:63446	IHH	3549	HP:0002983	Micromelia
ORPHA:63446	IHH	3549	HP:0002812	Coxa vara
ORPHA:63446	IHH	3549	HP:0002869	Flared iliac wings
ORPHA:63446	IHH	3549	HP:0006059	Cone-shaped metacarpal epiphyses
ORPHA:63446	IHH	3549	HP:0001792	Small nail
OMIM:254090	COL6A1	1291	HP:0000411	Protruding ear
OMIM:254090	COL6A1	1291	HP:0000473	Torticollis
OMIM:254090	COL6A1	1291	HP:0005072	Hyperextensibility at wrists
OMIM:254090	COL6A1	1291	HP:0001270	Motor delay
OMIM:254090	COL6A1	1291	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A1	1291	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A1	1291	HP:0001508	Failure to thrive
OMIM:254090	COL6A1	1291	HP:0000311	Round face
OMIM:254090	COL6A1	1291	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A1	1291	HP:0010628	Facial palsy
OMIM:254090	COL6A1	1291	HP:0003700	Generalized amyotrophy
OMIM:254090	COL6A1	1291	HP:0003828	Variable expressivity
OMIM:254090	COL6A1	1291	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A1	1291	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A1	1291	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A1	1291	HP:0001388	Joint laxity
OMIM:254090	COL6A1	1291	HP:0002650	Scoliosis
OMIM:254090	COL6A1	1291	HP:0003713	Muscle fiber necrosis
OMIM:254090	COL6A1	1291	HP:0003306	Spinal rigidity
OMIM:254090	COL6A1	1291	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A1	1291	HP:0006149	Increased laxity of fingers
OMIM:254090	COL6A1	1291	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A1	1291	HP:0001533	Slender build
OMIM:254090	COL6A1	1291	HP:0003676	Progressive
OMIM:254090	COL6A1	1291	HP:0003803	Type 1 muscle fiber predominance
OMIM:254090	COL6A1	1291	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A1	1291	HP:0002808	Kyphosis
OMIM:254090	COL6A1	1291	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A1	1291	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A1	1291	HP:0001371	Flexion contracture
OMIM:254090	COL6A1	1291	HP:0003557	Increased variability in muscle fiber diameter
OMIM:254090	COL6A1	1291	HP:0006460	Increased laxity of ankles
OMIM:254090	COL6A1	1291	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A1	1291	HP:0000218	High palate
OMIM:254090	COL6A1	1291	HP:0002827	Hip dislocation
OMIM:254090	COL6A1	1291	HP:0003593	Infantile onset
OMIM:254090	COL6A1	1291	HP:0002877	Nocturnal hypoventilation
OMIM:254090	COL6A2	1292	HP:0000411	Protruding ear
OMIM:254090	COL6A2	1292	HP:0000473	Torticollis
OMIM:254090	COL6A2	1292	HP:0005072	Hyperextensibility at wrists
OMIM:254090	COL6A2	1292	HP:0001270	Motor delay
OMIM:254090	COL6A2	1292	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A2	1292	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A2	1292	HP:0001508	Failure to thrive
OMIM:254090	COL6A2	1292	HP:0000311	Round face
OMIM:254090	COL6A2	1292	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A2	1292	HP:0010628	Facial palsy
OMIM:254090	COL6A2	1292	HP:0003700	Generalized amyotrophy
OMIM:254090	COL6A2	1292	HP:0003828	Variable expressivity
OMIM:254090	COL6A2	1292	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A2	1292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A2	1292	HP:0001388	Joint laxity
OMIM:254090	COL6A2	1292	HP:0002650	Scoliosis
OMIM:254090	COL6A2	1292	HP:0003713	Muscle fiber necrosis
OMIM:254090	COL6A2	1292	HP:0003306	Spinal rigidity
OMIM:254090	COL6A2	1292	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A2	1292	HP:0006149	Increased laxity of fingers
OMIM:254090	COL6A2	1292	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A2	1292	HP:0001533	Slender build
OMIM:254090	COL6A2	1292	HP:0003676	Progressive
OMIM:254090	COL6A2	1292	HP:0003803	Type 1 muscle fiber predominance
OMIM:254090	COL6A2	1292	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A2	1292	HP:0002808	Kyphosis
OMIM:254090	COL6A2	1292	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A2	1292	HP:0001371	Flexion contracture
OMIM:254090	COL6A2	1292	HP:0003557	Increased variability in muscle fiber diameter
OMIM:254090	COL6A2	1292	HP:0006460	Increased laxity of ankles
OMIM:254090	COL6A2	1292	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A2	1292	HP:0000218	High palate
OMIM:254090	COL6A2	1292	HP:0002827	Hip dislocation
OMIM:254090	COL6A2	1292	HP:0003593	Infantile onset
OMIM:254090	COL6A2	1292	HP:0002877	Nocturnal hypoventilation
OMIM:254090	COL6A3	1293	HP:0000411	Protruding ear
OMIM:254090	COL6A3	1293	HP:0000473	Torticollis
OMIM:254090	COL6A3	1293	HP:0005072	Hyperextensibility at wrists
OMIM:254090	COL6A3	1293	HP:0001270	Motor delay
OMIM:254090	COL6A3	1293	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A3	1293	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A3	1293	HP:0001508	Failure to thrive
OMIM:254090	COL6A3	1293	HP:0000311	Round face
OMIM:254090	COL6A3	1293	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A3	1293	HP:0010628	Facial palsy
OMIM:254090	COL6A3	1293	HP:0003700	Generalized amyotrophy
OMIM:254090	COL6A3	1293	HP:0003828	Variable expressivity
OMIM:254090	COL6A3	1293	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A3	1293	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A3	1293	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A3	1293	HP:0001388	Joint laxity
OMIM:254090	COL6A3	1293	HP:0002650	Scoliosis
OMIM:254090	COL6A3	1293	HP:0003713	Muscle fiber necrosis
OMIM:254090	COL6A3	1293	HP:0003306	Spinal rigidity
OMIM:254090	COL6A3	1293	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A3	1293	HP:0006149	Increased laxity of fingers
OMIM:254090	COL6A3	1293	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A3	1293	HP:0001533	Slender build
OMIM:254090	COL6A3	1293	HP:0003676	Progressive
OMIM:254090	COL6A3	1293	HP:0003803	Type 1 muscle fiber predominance
OMIM:254090	COL6A3	1293	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A3	1293	HP:0002808	Kyphosis
OMIM:254090	COL6A3	1293	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A3	1293	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A3	1293	HP:0001371	Flexion contracture
OMIM:254090	COL6A3	1293	HP:0003557	Increased variability in muscle fiber diameter
OMIM:254090	COL6A3	1293	HP:0006460	Increased laxity of ankles
OMIM:254090	COL6A3	1293	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A3	1293	HP:0000218	High palate
OMIM:254090	COL6A3	1293	HP:0002827	Hip dislocation
OMIM:254090	COL6A3	1293	HP:0003593	Infantile onset
OMIM:254090	COL6A3	1293	HP:0002877	Nocturnal hypoventilation
ORPHA:2639	BMPR1B	658	HP:0002983	Micromelia
ORPHA:2639	BMPR1B	658	HP:0005048	Synostosis of carpal bones
ORPHA:2639	BMPR1B	658	HP:0001156	Brachydactyly
ORPHA:2639	BMPR1B	658	HP:0003272	Abnormality of the hip bone
ORPHA:2639	BMPR1B	658	HP:0008368	Tarsal synostosis
ORPHA:2639	BMPR1B	658	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2639	BMPR1B	658	HP:0004322	Short stature
ORPHA:2639	BMPR1B	658	HP:0006492	Aplasia/Hypoplasia of the fibula
ORPHA:2639	BMPR1B	658	HP:0001376	Limitation of joint mobility
ORPHA:2639	BMPR1B	658	HP:0002997	Abnormality of the ulna
ORPHA:2639	BMPR1B	658	HP:0000446	Narrow nasal bridge
ORPHA:2639	BMPR1B	658	HP:0002992	Abnormality of tibia morphology
ORPHA:2639	BMPR1B	658	HP:0001172	Abnormality of the thumb
ORPHA:2639	BMPR1B	658	HP:0007598	Bilateral single transverse palmar creases
ORPHA:2639	BMPR1B	658	HP:0002818	Abnormality of the radius
ORPHA:2639	GDF5	8200	HP:0002983	Micromelia
ORPHA:2639	GDF5	8200	HP:0005048	Synostosis of carpal bones
ORPHA:2639	GDF5	8200	HP:0001156	Brachydactyly
ORPHA:2639	GDF5	8200	HP:0003272	Abnormality of the hip bone
ORPHA:2639	GDF5	8200	HP:0008368	Tarsal synostosis
ORPHA:2639	GDF5	8200	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2639	GDF5	8200	HP:0004322	Short stature
ORPHA:2639	GDF5	8200	HP:0006492	Aplasia/Hypoplasia of the fibula
ORPHA:2639	GDF5	8200	HP:0001376	Limitation of joint mobility
ORPHA:2639	GDF5	8200	HP:0002997	Abnormality of the ulna
ORPHA:2639	GDF5	8200	HP:0000446	Narrow nasal bridge
ORPHA:2639	GDF5	8200	HP:0002992	Abnormality of tibia morphology
ORPHA:2639	GDF5	8200	HP:0001172	Abnormality of the thumb
ORPHA:2639	GDF5	8200	HP:0007598	Bilateral single transverse palmar creases
ORPHA:2639	GDF5	8200	HP:0002818	Abnormality of the radius
OMIM:104290	ATP1A2	477	HP:0200072	Episodic quadriplegia
OMIM:104290	ATP1A2	477	HP:0012194	Episodic hemiplegia
OMIM:104290	ATP1A2	477	HP:0001268	Mental deterioration
OMIM:104290	ATP1A2	477	HP:0002069	Generalized tonic-clonic seizures
OMIM:104290	ATP1A2	477	HP:0001266	Choreoathetosis
OMIM:104290	ATP1A2	477	HP:0001249	Intellectual disability
OMIM:104290	ATP1A2	477	HP:0001332	Dystonia
OMIM:104290	ATP1A2	477	HP:0000639	Nystagmus
OMIM:104290	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:615540	SYNE4	163183	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
ORPHA:1338	WDPCP	51057	HP:0001682	Subvalvular aortic stenosis
ORPHA:1338	WDPCP	51057	HP:0011802	Hamartoma of tongue
ORPHA:1338	WDPCP	51057	HP:0001643	Patent ductus arteriosus
ORPHA:1338	WDPCP	51057	HP:0000028	Cryptorchidism
ORPHA:1338	WDPCP	51057	HP:0001233	2-3 finger syndactyly
ORPHA:1338	WDPCP	51057	HP:0100835	Benign neoplasm of the central nervous system
OMIM:608957	CD8A	925	HP:0002110	Bronchiectasis
OMIM:608957	CD8A	925	HP:0002718	Recurrent bacterial infections
OMIM:608957	CD8A	925	HP:0002205	Recurrent respiratory infections
OMIM:608957	CD8A	925	HP:0004429	Recurrent viral infections
OMIM:608957	CD8A	925	HP:0000007	Autosomal recessive inheritance
OMIM:608957	CD8A	925	HP:0003577	Congenital onset
OMIM:608957	CD8A	925	HP:0005422	Absence of CD8+ T cells
ORPHA:64754	NEK9	91754	HP:0025249	Comedo
ORPHA:64754	NEK9	91754	HP:0010566	Hamartoma
OMIM:615834	AUTS2	26053	HP:0000248	Brachycephaly
OMIM:615834	AUTS2	26053	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615834	AUTS2	26053	HP:0006184	Decreased palmar creases
OMIM:615834	AUTS2	26053	HP:0000717	Autism
OMIM:615834	AUTS2	26053	HP:0002650	Scoliosis
OMIM:615834	AUTS2	26053	HP:0000322	Short philtrum
OMIM:615834	AUTS2	26053	HP:0000006	Autosomal dominant inheritance
OMIM:615834	AUTS2	26053	HP:0000160	Narrow mouth
OMIM:615834	AUTS2	26053	HP:0000252	Microcephaly
OMIM:615834	AUTS2	26053	HP:0001263	Global developmental delay
OMIM:615834	AUTS2	26053	HP:0000494	Downslanted palpebral fissures
OMIM:615834	AUTS2	26053	HP:0001999	Abnormal facial shape
OMIM:615834	AUTS2	26053	HP:0005274	Prominent nasal tip
OMIM:615834	AUTS2	26053	HP:0000508	Ptosis
OMIM:615834	AUTS2	26053	HP:0002808	Kyphosis
OMIM:615834	AUTS2	26053	HP:0011968	Feeding difficulties
OMIM:615834	AUTS2	26053	HP:0000316	Hypertelorism
OMIM:615834	AUTS2	26053	HP:0001518	Small for gestational age
OMIM:615834	AUTS2	26053	HP:0100021	Cerebral palsy
OMIM:615834	AUTS2	26053	HP:0000750	Delayed speech and language development
OMIM:615834	AUTS2	26053	HP:0002553	Highly arched eyebrow
OMIM:615834	AUTS2	26053	HP:0012745	Short palpebral fissure
OMIM:615834	AUTS2	26053	HP:0012810	Wide nasal base
OMIM:615834	AUTS2	26053	HP:0000369	Low-set ears
OMIM:615834	AUTS2	26053	HP:0004322	Short stature
OMIM:615834	AUTS2	26053	HP:0001249	Intellectual disability
OMIM:615834	AUTS2	26053	HP:0000486	Strabismus
OMIM:615834	AUTS2	26053	HP:0000574	Thick eyebrow
OMIM:613319	ANO5	203859	HP:0003828	Variable expressivity
OMIM:613319	ANO5	203859	HP:0000007	Autosomal recessive inheritance
OMIM:613319	ANO5	203859	HP:0003551	Difficulty climbing stairs
OMIM:613319	ANO5	203859	HP:0008981	Calf muscle hypertrophy
OMIM:613319	ANO5	203859	HP:0002460	Distal muscle weakness
OMIM:613319	ANO5	203859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613319	ANO5	203859	HP:0003581	Adult onset
OMIM:613319	ANO5	203859	HP:0009046	Difficulty running
OMIM:613319	ANO5	203859	HP:0009050	Quadriceps muscle atrophy
OMIM:613319	ANO5	203859	HP:0003560	Muscular dystrophy
OMIM:602082	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:602082	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:602082	TGFBI	7045	HP:0007755	Juvenile epithelial corneal dystrophy
OMIM:602082	TGFBI	7045	HP:0000613	Photophobia
OMIM:602082	TGFBI	7045	HP:0000559	Corneal scarring
OMIM:601707	SMO	6608	HP:0000589	Coloboma
OMIM:601707	SMO	6608	HP:0000581	Blepharophimosis
OMIM:601707	SMO	6608	HP:0000324	Facial asymmetry
OMIM:601707	SMO	6608	HP:0000951	Abnormality of the skin
OMIM:601707	SMO	6608	HP:0002025	Anal stenosis
OMIM:601707	SMO	6608	HP:0001363	Craniosynostosis
OMIM:601707	SMO	6608	HP:0000568	Microphthalmia
OMIM:601707	SMO	6608	HP:0010554	Cutaneous finger syndactyly
OMIM:601707	SMO	6608	HP:0001263	Global developmental delay
OMIM:601707	SMO	6608	HP:0001177	Preaxial hand polydactyly
OMIM:601707	SMO	6608	HP:0002119	Ventriculomegaly
OMIM:601707	SMO	6608	HP:0001274	Agenesis of corpus callosum
OMIM:601707	SMO	6608	HP:0001442	Somatic mosaicism
OMIM:607091	B4GALT1	2683	HP:0001305	Dandy-Walker malformation
OMIM:607091	B4GALT1	2683	HP:0001928	Abnormality of coagulation
OMIM:607091	B4GALT1	2683	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607091	B4GALT1	2683	HP:0000007	Autosomal recessive inheritance
OMIM:607091	B4GALT1	2683	HP:0003198	Myopathy
OMIM:607091	B4GALT1	2683	HP:0001263	Global developmental delay
OMIM:607091	B4GALT1	2683	HP:0000256	Macrocephaly
OMIM:607091	B4GALT1	2683	HP:0001290	Generalized hypotonia
OMIM:227260	TWIST2	117581	HP:0005280	Depressed nasal bridge
OMIM:227260	TWIST2	117581	HP:0000561	Absent eyelashes
OMIM:227260	TWIST2	117581	HP:0000968	Ectodermal dysplasia
OMIM:227260	TWIST2	117581	HP:0000414	Bulbous nose
OMIM:227260	TWIST2	117581	HP:0008509	Aged leonine appearance
OMIM:227260	TWIST2	117581	HP:0008496	Multiple rows of eyelashes
OMIM:227260	TWIST2	117581	HP:0002023	Anal atresia
OMIM:227260	TWIST2	117581	HP:0000007	Autosomal recessive inheritance
OMIM:227260	TWIST2	117581	HP:0000629	Periorbital fullness
OMIM:273300	FGFR3	2261	HP:0000028	Cryptorchidism
OMIM:273300	FGFR3	2261	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	FGFR3	2261	HP:0003745	Sporadic
OMIM:273300	FGFR3	2261	HP:0009792	Teratoma
OMIM:273300	FGFR3	2261	HP:0000133	Gonadal dysgenesis
OMIM:273300	FGFR3	2261	HP:0001428	Somatic mutation
OMIM:273300	KIT	3815	HP:0000028	Cryptorchidism
OMIM:273300	KIT	3815	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	KIT	3815	HP:0003745	Sporadic
OMIM:273300	KIT	3815	HP:0009792	Teratoma
OMIM:273300	KIT	3815	HP:0000133	Gonadal dysgenesis
OMIM:273300	KIT	3815	HP:0001428	Somatic mutation
OMIM:273300	STK11	6794	HP:0000028	Cryptorchidism
OMIM:273300	STK11	6794	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	STK11	6794	HP:0003745	Sporadic
OMIM:273300	STK11	6794	HP:0009792	Teratoma
OMIM:273300	STK11	6794	HP:0000133	Gonadal dysgenesis
OMIM:273300	STK11	6794	HP:0001428	Somatic mutation
OMIM:219730	CRB2	286204	HP:0000238	Hydrocephalus
OMIM:219730	CRB2	286204	HP:0000007	Autosomal recessive inheritance
OMIM:219730	CRB2	286204	HP:0003577	Congenital onset
OMIM:219730	CRB2	286204	HP:0002119	Ventriculomegaly
OMIM:219730	CRB2	286204	HP:0001250	Seizures
OMIM:219730	CRB2	286204	HP:0000108	Renal corticomedullary cysts
OMIM:219730	CRB2	286204	HP:0100259	Postaxial polydactyly
OMIM:219730	CRB2	286204	HP:0000083	Renal insufficiency
OMIM:219730	CRB2	286204	HP:0001561	Polyhydramnios
ORPHA:576	GNPTAB	79158	HP:0000765	Abnormality of the thorax
ORPHA:576	GNPTAB	79158	HP:0004322	Short stature
ORPHA:576	GNPTAB	79158	HP:0001744	Splenomegaly
ORPHA:576	GNPTAB	79158	HP:0008155	Mucopolysacchariduria
ORPHA:576	GNPTAB	79158	HP:0012639	Abnormality of nervous system morphology
ORPHA:576	GNPTAB	79158	HP:0100790	Hernia
ORPHA:576	GNPTAB	79158	HP:0003026	Short long bone
ORPHA:576	GNPTAB	79158	HP:0002240	Hepatomegaly
ORPHA:576	GNPTAB	79158	HP:0200020	Corneal erosion
ORPHA:576	GNPTAB	79158	HP:0000963	Thin skin
ORPHA:576	GNPTAB	79158	HP:0000463	Anteverted nares
ORPHA:576	GNPTAB	79158	HP:0005280	Depressed nasal bridge
ORPHA:576	GNPTAB	79158	HP:0001508	Failure to thrive
ORPHA:576	GNPTAB	79158	HP:0100679	Lack of skin elasticity
ORPHA:576	GNPTAB	79158	HP:0000286	Epicanthus
ORPHA:576	GNPTAB	79158	HP:0002230	Generalized hirsutism
ORPHA:576	GNPTAB	79158	HP:0011344	Severe global developmental delay
ORPHA:576	GNPTAB	79158	HP:0000343	Long philtrum
ORPHA:576	GNPTAB	79158	HP:0000280	Coarse facial features
ORPHA:79477	RAB27A	5873	HP:0007443	Partial albinism
ORPHA:79477	RAB27A	5873	HP:0005599	Hypopigmentation of hair
ORPHA:79477	RAB27A	5873	HP:0003077	Hyperlipidemia
ORPHA:79477	RAB27A	5873	HP:0001876	Pancytopenia
ORPHA:79477	RAB27A	5873	HP:0002240	Hepatomegaly
ORPHA:79477	RAB27A	5873	HP:0012156	Hemophagocytosis
ORPHA:79477	RAB27A	5873	HP:0002716	Lymphadenopathy
ORPHA:79477	RAB27A	5873	HP:0002721	Immunodeficiency
ORPHA:79477	RAB27A	5873	HP:0001744	Splenomegaly
ORPHA:79477	RAB27A	5873	HP:0001875	Neutropenia
ORPHA:79477	RAB27A	5873	HP:0000952	Jaundice
ORPHA:79477	RAB27A	5873	HP:0002216	Premature graying of hair
OMIM:254300	DOK7	285489	HP:0003473	Fatigable weakness
OMIM:254300	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:254300	DOK7	285489	HP:0007126	Proximal amyotrophy
OMIM:254300	DOK7	285489	HP:0002515	Waddling gait
OMIM:254300	DOK7	285489	HP:0000508	Ptosis
OMIM:254300	DOK7	285489	HP:0003394	Muscle cramps
OMIM:254300	DOK7	285489	HP:0010628	Facial palsy
OMIM:254300	DOK7	285489	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	DOK7	285489	HP:0001283	Bulbar palsy
OMIM:254300	DOK7	285489	HP:0003391	Gowers sign
OMIM:254300	DOK7	285489	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	DOK7	285489	HP:0003621	Juvenile onset
OMIM:254300	DOK7	285489	HP:0003693	Distal amyotrophy
OMIM:254300	DOK7	285489	HP:0003388	Easy fatigability
OMIM:254300	DOK7	285489	HP:0002715	Abnormality of the immune system
ORPHA:534	OCRL	4952	HP:0002119	Ventriculomegaly
ORPHA:534	OCRL	4952	HP:0000093	Proteinuria
ORPHA:534	OCRL	4952	HP:0002357	Dysphasia
ORPHA:534	OCRL	4952	HP:0002353	EEG abnormality
ORPHA:534	OCRL	4952	HP:0001284	Areflexia
ORPHA:534	OCRL	4952	HP:0001319	Neonatal hypotonia
ORPHA:534	OCRL	4952	HP:0002749	Osteomalacia
ORPHA:534	OCRL	4952	HP:0000716	Depressivity
ORPHA:534	OCRL	4952	HP:0002007	Frontal bossing
ORPHA:534	OCRL	4952	HP:0002150	Hypercalciuria
ORPHA:534	OCRL	4952	HP:0100716	Self-injurious behavior
ORPHA:534	OCRL	4952	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:534	OCRL	4952	HP:0002902	Hyponatremia
ORPHA:534	OCRL	4952	HP:0008069	Neoplasm of the skin
ORPHA:534	OCRL	4952	HP:0100512	Vitamin D deficiency
ORPHA:534	OCRL	4952	HP:0000490	Deeply set eye
ORPHA:534	OCRL	4952	HP:0002019	Constipation
ORPHA:534	OCRL	4952	HP:0100820	Glomerulopathy
ORPHA:534	OCRL	4952	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:534	OCRL	4952	HP:0002049	Proximal renal tubular acidosis
ORPHA:534	OCRL	4952	HP:0005692	Joint hyperflexibility
ORPHA:534	OCRL	4952	HP:0001508	Failure to thrive
ORPHA:534	OCRL	4952	HP:0002757	Recurrent fractures
ORPHA:534	OCRL	4952	HP:0001386	Joint swelling
ORPHA:534	OCRL	4952	HP:0002169	Clonus
ORPHA:534	OCRL	4952	HP:0000557	Buphthalmos
ORPHA:534	OCRL	4952	HP:0003355	Aminoaciduria
ORPHA:534	OCRL	4952	HP:0100835	Benign neoplasm of the central nervous system
ORPHA:534	OCRL	4952	HP:0000615	Abnormality of the pupil
ORPHA:534	OCRL	4952	HP:0001873	Thrombocytopenia
ORPHA:534	OCRL	4952	HP:0001369	Arthritis
ORPHA:534	OCRL	4952	HP:0000293	Full cheeks
ORPHA:534	OCRL	4952	HP:0008872	Feeding difficulties in infancy
ORPHA:534	OCRL	4952	HP:0000722	Obsessive-compulsive behavior
ORPHA:534	OCRL	4952	HP:0000646	Amblyopia
ORPHA:534	OCRL	4952	HP:0007513	Generalized hypopigmentation
ORPHA:534	OCRL	4952	HP:0000639	Nystagmus
ORPHA:534	OCRL	4952	HP:0000733	Stereotypy
ORPHA:534	OCRL	4952	HP:0000028	Cryptorchidism
ORPHA:534	OCRL	4952	HP:0001250	Seizures
ORPHA:534	OCRL	4952	HP:0000083	Renal insufficiency
ORPHA:534	OCRL	4952	HP:0002209	Sparse scalp hair
ORPHA:534	OCRL	4952	HP:0000411	Protruding ear
ORPHA:534	OCRL	4952	HP:0000091	Abnormality of the renal tubule
ORPHA:534	OCRL	4952	HP:0000276	Long face
ORPHA:534	OCRL	4952	HP:0000739	Anxiety
ORPHA:534	OCRL	4952	HP:0000843	Hyperparathyroidism
ORPHA:534	OCRL	4952	HP:0001608	Abnormality of the voice
ORPHA:534	OCRL	4952	HP:0002900	Hypokalemia
ORPHA:534	OCRL	4952	HP:0004322	Short stature
ORPHA:534	OCRL	4952	HP:0001944	Dehydration
ORPHA:534	OCRL	4952	HP:0001249	Intellectual disability
ORPHA:534	OCRL	4952	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:534	OCRL	4952	HP:0002650	Scoliosis
ORPHA:534	OCRL	4952	HP:0000518	Cataract
ORPHA:534	OCRL	4952	HP:0002213	Fine hair
OMIM:613789	C8B	732	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C8B	732	HP:0001287	Meningitis
OMIM:613789	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C8B	732	HP:0004434	C8 deficiency
OMIM:276902	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:276902	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:276902	CLRN1	7401	HP:0001751	Vestibular dysfunction
OMIM:276902	CLRN1	7401	HP:0001123	Visual field defect
OMIM:276902	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:276902	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
OMIM:276902	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:604377	SCO2	9997	HP:0003128	Lactic acidosis
OMIM:604377	SCO2	9997	HP:0001263	Global developmental delay
OMIM:604377	SCO2	9997	HP:0002098	Respiratory distress
OMIM:604377	SCO2	9997	HP:0002151	Increased serum lactate
OMIM:604377	SCO2	9997	HP:0006999	Basal ganglia gliosis
OMIM:604377	SCO2	9997	HP:0007941	Limited extraocular movements
OMIM:604377	SCO2	9997	HP:0002490	Increased CSF lactate
OMIM:604377	SCO2	9997	HP:0001522	Death in infancy
OMIM:604377	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	SCO2	9997	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	SCO2	9997	HP:0001290	Generalized hypotonia
OMIM:604377	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:604377	SCO2	9997	HP:0003577	Congenital onset
OMIM:604377	SCO2	9997	HP:0008872	Feeding difficulties in infancy
OMIM:607541	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:607541	TGFBI	7045	HP:0000505	Visual impairment
OMIM:607541	TGFBI	7045	HP:0007663	Reduced visual acuity
OMIM:607541	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
OMIM:275630	ABHD5	51099	HP:0000407	Sensorineural hearing impairment
OMIM:275630	ABHD5	51099	HP:0003198	Myopathy
OMIM:275630	ABHD5	51099	HP:0000639	Nystagmus
OMIM:275630	ABHD5	51099	HP:0000523	Subcapsular cataract
OMIM:275630	ABHD5	51099	HP:0002240	Hepatomegaly
OMIM:275630	ABHD5	51099	HP:0001251	Ataxia
OMIM:275630	ABHD5	51099	HP:0001249	Intellectual disability
OMIM:275630	ABHD5	51099	HP:0001596	Alopecia
OMIM:275630	ABHD5	51099	HP:0008551	Microtia
OMIM:275630	ABHD5	51099	HP:0001324	Muscle weakness
OMIM:275630	ABHD5	51099	HP:0000007	Autosomal recessive inheritance
OMIM:275630	ABHD5	51099	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:275630	ABHD5	51099	HP:0000232	Everted lower lip vermilion
OMIM:275630	ABHD5	51099	HP:0000656	Ectropion
OMIM:275630	ABHD5	51099	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:275630	ABHD5	51099	HP:0000486	Strabismus
OMIM:275630	ABHD5	51099	HP:0001397	Hepatic steatosis
OMIM:612657	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:612657	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:612657	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
ORPHA:79085	AKT2	208	HP:0000876	Oligomenorrhea
ORPHA:79085	AKT2	208	HP:0008993	Increased intraabdominal fat
ORPHA:79085	AKT2	208	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:79085	AKT2	208	HP:0003292	Decreased serum leptin
ORPHA:79085	AKT2	208	HP:0009125	Lipodystrophy
ORPHA:79085	AKT2	208	HP:0000956	Acanthosis nigricans
ORPHA:79085	AKT2	208	HP:0001397	Hepatic steatosis
ORPHA:79085	AKT2	208	HP:0002155	Hypertriglyceridemia
ORPHA:79085	AKT2	208	HP:0030685	Decreased adiponectin level
ORPHA:79085	AKT2	208	HP:0000147	Polycystic ovaries
ORPHA:79085	AKT2	208	HP:0002240	Hepatomegaly
OMIM:612462	GNAS	2778	HP:0000135	Hypogonadism
OMIM:612462	GNAS	2778	HP:0000293	Full cheeks
OMIM:612462	GNAS	2778	HP:0000311	Round face
OMIM:612462	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612462	GNAS	2778	HP:0001249	Intellectual disability
OMIM:612462	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612462	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:612462	GNAS	2778	HP:0000470	Short neck
OMIM:612462	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:612462	GNAS	2778	HP:0001156	Brachydactyly
OMIM:612462	GNAS	2778	HP:0004322	Short stature
OMIM:612462	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:612462	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:612462	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:612462	GNAS	2778	HP:0001513	Obesity
OMIM:612462	GNAS	2778	HP:0001250	Seizures
OMIM:612462	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:612462	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:612462	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612462	GNAS	2778	HP:0000639	Nystagmus
OMIM:612462	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612462	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612462	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612462	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:612462	GNAS	2778	HP:0000518	Cataract
OMIM:612462	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612462	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:184	SH3BP2	6452	HP:0000293	Full cheeks
ORPHA:184	SH3BP2	6452	HP:0000677	Oligodontia
ORPHA:184	SH3BP2	6452	HP:0006482	Abnormality of dental morphology
ORPHA:184	SH3BP2	6452	HP:0012802	Broad jaw
ORPHA:184	SH3BP2	6452	HP:0012062	Bone cyst
OMIM:615505	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615505	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:615505	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615505	SPAG1	6674	HP:0012265	Ciliary dyskinesia
OMIM:615505	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615505	SPAG1	6674	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615505	SPAG1	6674	HP:0012384	Rhinitis
OMIM:615505	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615505	SPAG1	6674	HP:0004469	Chronic bronchitis
OMIM:615505	SPAG1	6674	HP:0000246	Sinusitis
OMIM:610193	DSG2	1829	HP:0004756	Ventricular tachycardia
OMIM:610193	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:610193	DSG2	1829	HP:0006682	Ventricular extrasystoles
OMIM:610193	DSG2	1829	HP:0001425	Heterogeneous
OMIM:610193	DSG2	1829	HP:0001962	Palpitations
OMIM:610193	DSG2	1829	HP:0001645	Sudden cardiac death
OMIM:610193	DSG2	1829	HP:0011663	Right ventricular cardiomyopathy
ORPHA:190	NDP	4693	HP:0000486	Strabismus
ORPHA:190	NDP	4693	HP:0008046	Abnormality of the retinal vasculature
ORPHA:190	NDP	4693	HP:0000501	Glaucoma
ORPHA:190	NDP	4693	HP:0001103	Abnormal macular morphology
ORPHA:190	NDP	4693	HP:0000541	Retinal detachment
OMIM:614613	PDE4D	5144	HP:0000028	Cryptorchidism
OMIM:614613	PDE4D	5144	HP:0000717	Autism
OMIM:614613	PDE4D	5144	HP:0003196	Short nose
OMIM:614613	PDE4D	5144	HP:0000006	Autosomal dominant inheritance
OMIM:614613	PDE4D	5144	HP:0000750	Delayed speech and language development
OMIM:614613	PDE4D	5144	HP:0003577	Congenital onset
OMIM:614613	PDE4D	5144	HP:0005280	Depressed nasal bridge
OMIM:614613	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
OMIM:614613	PDE4D	5144	HP:0011800	Midface retrusion
OMIM:614613	PDE4D	5144	HP:0009803	Short phalanx of finger
OMIM:614613	PDE4D	5144	HP:0000047	Hypospadias
OMIM:614613	PDE4D	5144	HP:0002297	Red hair
OMIM:614613	PDE4D	5144	HP:0010049	Short metacarpal
OMIM:614613	PDE4D	5144	HP:0002286	Fair hair
OMIM:614613	PDE4D	5144	HP:0001249	Intellectual disability
OMIM:614613	PDE4D	5144	HP:0000303	Mandibular prognathia
OMIM:614613	PDE4D	5144	HP:0000311	Round face
OMIM:614613	PDE4D	5144	HP:0002516	Increased intracranial pressure
OMIM:614613	PDE4D	5144	HP:0001513	Obesity
OMIM:614613	PDE4D	5144	HP:0000752	Hyperactivity
OMIM:614613	PDE4D	5144	HP:0000272	Malar flattening
OMIM:614613	PDE4D	5144	HP:0000463	Anteverted nares
OMIM:614613	PDE4D	5144	HP:0000635	Blue irides
OMIM:614613	PDE4D	5144	HP:0010743	Short metatarsal
OMIM:614613	PDE4D	5144	HP:0003416	Spinal canal stenosis
OMIM:614613	PDE4D	5144	HP:0001156	Brachydactyly
OMIM:614613	PDE4D	5144	HP:0001263	Global developmental delay
OMIM:614613	PDE4D	5144	HP:0010579	Cone-shaped epiphysis
OMIM:173900	PKD1	5310	HP:0000083	Renal insufficiency
OMIM:173900	PKD1	5310	HP:0000006	Autosomal dominant inheritance
OMIM:173900	PKD1	5310	HP:0000822	Hypertension
OMIM:173900	PKD1	5310	HP:0001407	Hepatic cysts
OMIM:173900	PKD1	5310	HP:0002253	Colonic diverticula
OMIM:173900	PKD1	5310	HP:0000113	Polycystic kidney dysplasia
ORPHA:71528	PCSK1	5122	HP:0001010	Hypopigmentation of the skin
ORPHA:71528	PCSK1	5122	HP:0009126	Increased adipose tissue
ORPHA:71528	PCSK1	5122	HP:0011734	Central adrenal insufficiency
ORPHA:71528	PCSK1	5122	HP:0002297	Red hair
ORPHA:71528	PCSK1	5122	HP:0002591	Polyphagia
ORPHA:71528	PCSK1	5122	HP:0008915	Childhood-onset truncal obesity
ORPHA:71528	PCSK1	5122	HP:0001396	Cholestasis
OMIM:606164	RPS28	6234	HP:0000358	Posteriorly rotated ears
OMIM:606164	RPS28	6234	HP:0003593	Infantile onset
OMIM:606164	RPS28	6234	HP:0000286	Epicanthus
OMIM:606164	RPS28	6234	HP:0002098	Respiratory distress
OMIM:606164	RPS28	6234	HP:0011968	Feeding difficulties
OMIM:606164	RPS28	6234	HP:0000776	Congenital diaphragmatic hernia
OMIM:606164	RPS28	6234	HP:0000475	Broad neck
OMIM:606164	RPS28	6234	HP:0004322	Short stature
OMIM:606164	RPS28	6234	HP:0000410	Mixed hearing impairment
OMIM:606164	RPS28	6234	HP:0000535	Sparse and thin eyebrow
OMIM:606164	RPS28	6234	HP:0001263	Global developmental delay
OMIM:606164	RPS28	6234	HP:0000347	Micrognathia
OMIM:606164	RPS28	6234	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS28	6234	HP:0011800	Midface retrusion
OMIM:606164	RPS28	6234	HP:0008551	Microtia
OMIM:606164	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:606164	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:616187	KCNC1	3746	HP:0001336	Myoclonus
OMIM:616187	KCNC1	3746	HP:0003676	Progressive
OMIM:616187	KCNC1	3746	HP:0001337	Tremor
OMIM:616187	KCNC1	3746	HP:0000006	Autosomal dominant inheritance
OMIM:616187	KCNC1	3746	HP:0001250	Seizures
OMIM:184250	COL2A1	1280	HP:0002650	Scoliosis
OMIM:184250	COL2A1	1280	HP:0000175	Cleft palate
OMIM:184250	COL2A1	1280	HP:0003173	Hypoplastic pubic bone
OMIM:184250	COL2A1	1280	HP:0003510	Severe short stature
OMIM:184250	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:184250	COL2A1	1280	HP:0001156	Brachydactyly
OMIM:184250	COL2A1	1280	HP:0002812	Coxa vara
OMIM:184250	COL2A1	1280	HP:0008788	Delayed pubic bone ossification
OMIM:184250	COL2A1	1280	HP:0003375	Narrow greater sacrosciatic notches
OMIM:184250	COL2A1	1280	HP:0000907	Anterior rib cupping
OMIM:184250	COL2A1	1280	HP:0000023	Inguinal hernia
OMIM:184250	COL2A1	1280	HP:0000545	Myopia
OMIM:184250	COL2A1	1280	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:184250	COL2A1	1280	HP:0002857	Genu valgum
OMIM:184250	COL2A1	1280	HP:0011860	Metaphyseal dappling
OMIM:184250	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:184250	COL2A1	1280	HP:0001763	Pes planus
OMIM:184250	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:184250	COL2A1	1280	HP:0003320	C1-C2 subluxation
OMIM:184250	COL2A1	1280	HP:0003025	Metaphyseal irregularity
OMIM:184250	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
OMIM:184250	COL2A1	1280	HP:0006406	Club-shaped proximal femur
OMIM:184250	COL2A1	1280	HP:0001538	Protuberant abdomen
OMIM:184250	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:302950	ARSE	415	HP:0001419	X-linked recessive inheritance
OMIM:302950	ARSE	415	HP:0004322	Short stature
OMIM:302950	ARSE	415	HP:0000365	Hearing impairment
OMIM:302950	ARSE	415	HP:0000135	Hypogonadism
OMIM:302950	ARSE	415	HP:0000925	Abnormality of the vertebral column
OMIM:302950	ARSE	415	HP:0000252	Microcephaly
OMIM:302950	ARSE	415	HP:0000420	Short nasal septum
OMIM:302950	ARSE	415	HP:0010655	Epiphyseal stippling
OMIM:302950	ARSE	415	HP:0001263	Global developmental delay
OMIM:302950	ARSE	415	HP:0005280	Depressed nasal bridge
OMIM:302950	ARSE	415	HP:0000458	Anosmia
OMIM:302950	ARSE	415	HP:0008064	Ichthyosis
OMIM:302950	ARSE	415	HP:0000518	Cataract
OMIM:302950	ARSE	415	HP:0003196	Short nose
OMIM:302950	ARSE	415	HP:0009882	Short distal phalanx of finger
OMIM:600059	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF8	10594	HP:0000546	Retinal degeneration
OMIM:600059	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF8	10594	HP:0003829	Incomplete penetrance
OMIM:600059	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:600059	PRPF8	10594	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:605039	ASXL1	171023	HP:0000329	Facial hemangioma
OMIM:605039	ASXL1	171023	HP:0011220	Prominent forehead
OMIM:605039	ASXL1	171023	HP:0000007	Autosomal recessive inheritance
OMIM:605039	ASXL1	171023	HP:0000187	Broad alveolar ridges
OMIM:605039	ASXL1	171023	HP:0005026	Mesomelic/rhizomelic limb shortening
OMIM:605039	ASXL1	171023	HP:0000189	Narrow palate
OMIM:605039	ASXL1	171023	HP:0001629	Ventricular septal defect
OMIM:605039	ASXL1	171023	HP:0000358	Posteriorly rotated ears
OMIM:605039	ASXL1	171023	HP:0000520	Proptosis
OMIM:605039	ASXL1	171023	HP:0000276	Long face
OMIM:605039	ASXL1	171023	HP:0001869	Deep plantar creases
OMIM:605039	ASXL1	171023	HP:0002365	Hypoplasia of the brainstem
OMIM:605039	ASXL1	171023	HP:0011401	Delayed peripheral myelination
OMIM:605039	ASXL1	171023	HP:0000582	Upslanted palpebral fissure
OMIM:605039	ASXL1	171023	HP:0000960	Sacral dimple
OMIM:605039	ASXL1	171023	HP:0002020	Gastroesophageal reflux
OMIM:605039	ASXL1	171023	HP:0001274	Agenesis of corpus callosum
OMIM:605039	ASXL1	171023	HP:0002079	Hypoplasia of the corpus callosum
OMIM:605039	ASXL1	171023	HP:0001159	Syndactyly
OMIM:605039	ASXL1	171023	HP:0003083	Dislocated radial head
OMIM:605039	ASXL1	171023	HP:0000252	Microcephaly
OMIM:605039	ASXL1	171023	HP:0000486	Strabismus
OMIM:605039	ASXL1	171023	HP:0001052	Nevus flammeus
OMIM:605039	ASXL1	171023	HP:0012385	Camptodactyly
OMIM:605039	ASXL1	171023	HP:0000243	Trigonocephaly
OMIM:605039	ASXL1	171023	HP:0000076	Vesicoureteral reflux
OMIM:605039	ASXL1	171023	HP:0001290	Generalized hypotonia
OMIM:605039	ASXL1	171023	HP:0001305	Dandy-Walker malformation
OMIM:605039	ASXL1	171023	HP:0001511	Intrauterine growth retardation
OMIM:605039	ASXL1	171023	HP:0011968	Feeding difficulties
OMIM:605039	ASXL1	171023	HP:0000175	Cleft palate
OMIM:605039	ASXL1	171023	HP:0000369	Low-set ears
OMIM:605039	ASXL1	171023	HP:0005487	Prominent metopic ridge
OMIM:605039	ASXL1	171023	HP:0006610	Wide intermamillary distance
OMIM:605039	ASXL1	171023	HP:0000341	Narrow forehead
OMIM:605039	ASXL1	171023	HP:0001182	Tapered finger
OMIM:605039	ASXL1	171023	HP:0000431	Wide nasal bridge
OMIM:605039	ASXL1	171023	HP:0002566	Intestinal malrotation
OMIM:605039	ASXL1	171023	HP:0001250	Seizures
OMIM:605039	ASXL1	171023	HP:0000294	Low anterior hairline
OMIM:605039	ASXL1	171023	HP:0001845	Overlapping toe
OMIM:605039	ASXL1	171023	HP:0003049	Ulnar deviation of the wrist
OMIM:605039	ASXL1	171023	HP:0000204	Cleft upper lip
OMIM:605039	ASXL1	171023	HP:0000347	Micrognathia
OMIM:605039	ASXL1	171023	HP:0002282	Heterotopia
OMIM:605039	ASXL1	171023	HP:0000545	Myopia
OMIM:605039	ASXL1	171023	HP:0006191	Deep palmar crease
OMIM:605039	ASXL1	171023	HP:0000316	Hypertelorism
OMIM:605039	ASXL1	171023	HP:0001508	Failure to thrive
OMIM:605039	ASXL1	171023	HP:0001831	Short toe
OMIM:605039	ASXL1	171023	HP:0002187	Intellectual disability, profound
OMIM:605039	ASXL1	171023	HP:0000006	Autosomal dominant inheritance
OMIM:605039	ASXL1	171023	HP:0001007	Hirsutism
OMIM:605039	ASXL1	171023	HP:0002558	Supernumerary nipple
OMIM:605039	ASXL1	171023	HP:0001561	Polyhydramnios
OMIM:605039	ASXL1	171023	HP:0001631	Atrial septal defect
OMIM:605039	ASXL1	171023	HP:0100874	Thick hair
OMIM:605039	ASXL1	171023	HP:0000587	Abnormality of the optic nerve
OMIM:605039	ASXL1	171023	HP:0001263	Global developmental delay
OMIM:605039	ASXL1	171023	HP:0000278	Retrognathia
OMIM:605039	ASXL1	171023	HP:0006276	Hyperechogenic pancreas
OMIM:605039	ASXL1	171023	HP:0001169	Broad palm
ORPHA:2343	ERF	2077	HP:0001363	Craniosynostosis
ORPHA:2343	ERF	2077	HP:0006101	Finger syndactyly
ORPHA:2343	ERF	2077	HP:0000348	High forehead
ORPHA:2343	ERF	2077	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2343	ERF	2077	HP:0002652	Skeletal dysplasia
ORPHA:2343	ERF	2077	HP:0000520	Proptosis
ORPHA:2343	ERF	2077	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2343	ERF	2077	HP:0000444	Convex nasal ridge
ORPHA:2343	ERF	2077	HP:0001376	Limitation of joint mobility
ORPHA:2343	ERF	2077	HP:0100543	Cognitive impairment
ORPHA:2343	ERF	2077	HP:0011800	Midface retrusion
ORPHA:2343	ERF	2077	HP:0000272	Malar flattening
OMIM:615988	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615988	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615988	TRIM32	22954	HP:0000007	Autosomal recessive inheritance
OMIM:615988	TRIM32	22954	HP:0000077	Abnormality of the kidney
OMIM:615988	TRIM32	22954	HP:0001513	Obesity
OMIM:615988	TRIM32	22954	HP:0000488	Retinopathy
OMIM:616228	ALG2	85365	HP:0003325	Limb-girdle muscle weakness
OMIM:616228	ALG2	85365	HP:0003473	Fatigable weakness
OMIM:616228	ALG2	85365	HP:0003391	Gowers sign
OMIM:616228	ALG2	85365	HP:0003677	Slow progression
OMIM:616228	ALG2	85365	HP:0000007	Autosomal recessive inheritance
OMIM:616228	ALG2	85365	HP:0002515	Waddling gait
ORPHA:168558	CYP11A1	1583	HP:0011749	Adrenocorticotropic hormone excess
ORPHA:168558	CYP11A1	1583	HP:0008734	Decreased testicular size
ORPHA:168558	CYP11A1	1583	HP:0000028	Cryptorchidism
ORPHA:168558	CYP11A1	1583	HP:0007574	Generalized bronze hyperpigmentation
ORPHA:168558	CYP11A1	1583	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:168558	CYP11A1	1583	HP:0012605	Hypernatriuria
ORPHA:168558	CYP11A1	1583	HP:0000151	Aplasia of the uterus
ORPHA:168558	CYP11A1	1583	HP:0002615	Hypotension
ORPHA:168558	CYP11A1	1583	HP:0000037	Male pseudohermaphroditism
ORPHA:168558	CYP11A1	1583	HP:0000823	Delayed puberty
ORPHA:168558	CYP11A1	1583	HP:0000835	Adrenal hypoplasia
ORPHA:168558	CYP11A1	1583	HP:0000033	Ambiguous genitalia, male
ORPHA:168558	CYP11A1	1583	HP:0012245	Sex reversal
ORPHA:168558	CYP11A1	1583	HP:0002750	Delayed skeletal maturation
ORPHA:168558	CYP11A1	1583	HP:0003107	Abnormality of cholesterol metabolism
ORPHA:168558	CYP11A1	1583	HP:0003154	Increased circulating ACTH level
ORPHA:168558	CYP11A1	1583	HP:0008187	Absence of secondary sex characteristics
ORPHA:168558	CYP11A1	1583	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:168558	CYP11A1	1583	HP:0100779	Urogenital sinus anomaly
ORPHA:168558	CYP11A1	1583	HP:0010789	Abnormality of the Leydig cells
ORPHA:168558	CYP11A1	1583	HP:0011968	Feeding difficulties
ORPHA:168558	CYP11A1	1583	HP:0030369	Induced vaginal delivery
ORPHA:168558	CYP11A1	1583	HP:0002013	Vomiting
ORPHA:168558	CYP11A1	1583	HP:0001622	Premature birth
ORPHA:168558	CYP11A1	1583	HP:0001944	Dehydration
ORPHA:168558	CYP11A1	1583	HP:0001274	Agenesis of corpus callosum
ORPHA:168558	CYP11A1	1583	HP:0001941	Acidosis
ORPHA:168558	CYP11A1	1583	HP:0001998	Neonatal hypoglycemia
ORPHA:168558	CYP11A1	1583	HP:0000771	Gynecomastia
ORPHA:168558	CYP11A1	1583	HP:0011106	Hypovolemia
ORPHA:168558	CYP11A1	1583	HP:0008073	Low maternal serum estriol
ORPHA:168558	CYP11A1	1583	HP:0008163	Decreased circulating cortisol level
ORPHA:168558	CYP11A1	1583	HP:0000127	Renal salt wasting
ORPHA:168558	CYP11A1	1583	HP:0001508	Failure to thrive
ORPHA:168558	CYP11A1	1583	HP:0000144	Decreased fertility
ORPHA:168558	CYP11A1	1583	HP:0000848	Increased circulating renin level
ORPHA:168558	CYP11A1	1583	HP:0002902	Hyponatremia
ORPHA:168558	CYP11A1	1583	HP:0004319	Decreased circulating aldosterone level
ORPHA:168558	CYP11A1	1583	HP:0002153	Hyperkalemia
ORPHA:168558	CYP11A1	1583	HP:0000939	Osteoporosis
ORPHA:168558	CYP11A1	1583	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:168558	CYP11A1	1583	HP:0030349	Decreased circulating androgen level
ORPHA:168558	CYP11A1	1583	HP:0012598	Abnormal urine potassium concentration
ORPHA:251510	SRY	6736	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	SRY	6736	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHA:251510	SRY	6736	HP:0002215	Sparse axillary hair
ORPHA:251510	SRY	6736	HP:0000133	Gonadal dysgenesis
ORPHA:251510	SRY	6736	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	SRY	6736	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	SRY	6736	HP:0008230	Decreased testosterone in males
ORPHA:251510	SRY	6736	HP:0000028	Cryptorchidism
ORPHA:251510	SRY	6736	HP:0000027	Azoospermia
ORPHA:251510	SRY	6736	HP:0000047	Hypospadias
ORPHA:251510	SRY	6736	HP:0012244	Abnormal sex determination
ORPHA:251510	SRY	6736	HP:0000939	Osteoporosis
ORPHA:251510	SRY	6736	HP:0000771	Gynecomastia
ORPHA:251510	SRY	6736	HP:0003251	Male infertility
ORPHA:251510	SRY	6736	HP:0000823	Delayed puberty
ORPHA:251510	SRY	6736	HP:0000868	Decreased fertility in females
ORPHA:251510	SRY	6736	HP:0008734	Decreased testicular size
ORPHA:251510	SRY	6736	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	SRY	6736	HP:0000054	Micropenis
ORPHA:251510	SRY	6736	HP:0002225	Sparse pubic hair
ORPHA:251510	SRY	6736	HP:0008665	Clitoral hypertrophy
ORPHA:251510	SRY	6736	HP:0000045	Abnormality of the scrotum
ORPHA:251510	SRY	6736	HP:0000786	Primary amenorrhea
ORPHA:251510	SRY	6736	HP:0008214	Decreased serum estradiol
ORPHA:251510	SRY	6736	HP:0010464	Streak ovary
ORPHA:251510	SRY	6736	HP:0000058	Abnormality of the labia
ORPHA:251510	SRY	6736	HP:0012870	Vanishing testis
ORPHA:251510	WT1	7490	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	WT1	7490	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	WT1	7490	HP:0000062	Ambiguous genitalia
ORPHA:251510	WT1	7490	HP:0002215	Sparse axillary hair
ORPHA:251510	WT1	7490	HP:0000133	Gonadal dysgenesis
ORPHA:251510	WT1	7490	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	WT1	7490	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	WT1	7490	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	WT1	7490	HP:0008230	Decreased testosterone in males
ORPHA:251510	WT1	7490	HP:0000028	Cryptorchidism
ORPHA:251510	WT1	7490	HP:0000027	Azoospermia
ORPHA:251510	WT1	7490	HP:0000047	Hypospadias
ORPHA:251510	WT1	7490	HP:0012244	Abnormal sex determination
ORPHA:251510	WT1	7490	HP:0000939	Osteoporosis
ORPHA:251510	WT1	7490	HP:0000771	Gynecomastia
ORPHA:251510	WT1	7490	HP:0003251	Male infertility
ORPHA:251510	WT1	7490	HP:0000823	Delayed puberty
ORPHA:251510	WT1	7490	HP:0000868	Decreased fertility in females
ORPHA:251510	WT1	7490	HP:0008734	Decreased testicular size
ORPHA:251510	WT1	7490	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	WT1	7490	HP:0000054	Micropenis
ORPHA:251510	WT1	7490	HP:0002225	Sparse pubic hair
ORPHA:251510	WT1	7490	HP:0008665	Clitoral hypertrophy
ORPHA:251510	WT1	7490	HP:0000045	Abnormality of the scrotum
ORPHA:251510	WT1	7490	HP:0000786	Primary amenorrhea
ORPHA:251510	WT1	7490	HP:0008214	Decreased serum estradiol
ORPHA:251510	WT1	7490	HP:0010464	Streak ovary
ORPHA:251510	WT1	7490	HP:0000058	Abnormality of the labia
ORPHA:251510	WT1	7490	HP:0012870	Vanishing testis
ORPHA:251510	GATA4	2626	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	GATA4	2626	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	GATA4	2626	HP:0000062	Ambiguous genitalia
ORPHA:251510	GATA4	2626	HP:0002215	Sparse axillary hair
ORPHA:251510	GATA4	2626	HP:0000133	Gonadal dysgenesis
ORPHA:251510	GATA4	2626	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	GATA4	2626	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	GATA4	2626	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	GATA4	2626	HP:0008230	Decreased testosterone in males
ORPHA:251510	GATA4	2626	HP:0000028	Cryptorchidism
ORPHA:251510	GATA4	2626	HP:0000027	Azoospermia
ORPHA:251510	GATA4	2626	HP:0000047	Hypospadias
ORPHA:251510	GATA4	2626	HP:0012244	Abnormal sex determination
ORPHA:251510	GATA4	2626	HP:0000939	Osteoporosis
ORPHA:251510	GATA4	2626	HP:0000771	Gynecomastia
ORPHA:251510	GATA4	2626	HP:0003251	Male infertility
ORPHA:251510	GATA4	2626	HP:0000823	Delayed puberty
ORPHA:251510	GATA4	2626	HP:0000868	Decreased fertility in females
ORPHA:251510	GATA4	2626	HP:0008734	Decreased testicular size
ORPHA:251510	GATA4	2626	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	GATA4	2626	HP:0000054	Micropenis
ORPHA:251510	GATA4	2626	HP:0002225	Sparse pubic hair
ORPHA:251510	GATA4	2626	HP:0008665	Clitoral hypertrophy
ORPHA:251510	GATA4	2626	HP:0000045	Abnormality of the scrotum
ORPHA:251510	GATA4	2626	HP:0000786	Primary amenorrhea
ORPHA:251510	GATA4	2626	HP:0008214	Decreased serum estradiol
ORPHA:251510	GATA4	2626	HP:0010464	Streak ovary
ORPHA:251510	GATA4	2626	HP:0000058	Abnormality of the labia
ORPHA:251510	GATA4	2626	HP:0012870	Vanishing testis
ORPHA:251510	NR5A1	2516	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	NR5A1	2516	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	NR5A1	2516	HP:0000062	Ambiguous genitalia
ORPHA:251510	NR5A1	2516	HP:0002215	Sparse axillary hair
ORPHA:251510	NR5A1	2516	HP:0000133	Gonadal dysgenesis
ORPHA:251510	NR5A1	2516	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	NR5A1	2516	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	NR5A1	2516	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	NR5A1	2516	HP:0008230	Decreased testosterone in males
ORPHA:251510	NR5A1	2516	HP:0000028	Cryptorchidism
ORPHA:251510	NR5A1	2516	HP:0000027	Azoospermia
ORPHA:251510	NR5A1	2516	HP:0000047	Hypospadias
ORPHA:251510	NR5A1	2516	HP:0012244	Abnormal sex determination
ORPHA:251510	NR5A1	2516	HP:0000939	Osteoporosis
ORPHA:251510	NR5A1	2516	HP:0000771	Gynecomastia
ORPHA:251510	NR5A1	2516	HP:0003251	Male infertility
ORPHA:251510	NR5A1	2516	HP:0000823	Delayed puberty
ORPHA:251510	NR5A1	2516	HP:0000868	Decreased fertility in females
ORPHA:251510	NR5A1	2516	HP:0008734	Decreased testicular size
ORPHA:251510	NR5A1	2516	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	NR5A1	2516	HP:0000054	Micropenis
ORPHA:251510	NR5A1	2516	HP:0002225	Sparse pubic hair
ORPHA:251510	NR5A1	2516	HP:0008665	Clitoral hypertrophy
ORPHA:251510	NR5A1	2516	HP:0000045	Abnormality of the scrotum
ORPHA:251510	NR5A1	2516	HP:0000786	Primary amenorrhea
ORPHA:251510	NR5A1	2516	HP:0008214	Decreased serum estradiol
ORPHA:251510	NR5A1	2516	HP:0010464	Streak ovary
ORPHA:251510	NR5A1	2516	HP:0000058	Abnormality of the labia
ORPHA:251510	NR5A1	2516	HP:0012870	Vanishing testis
ORPHA:251510	SOX9	6662	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	SOX9	6662	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHA:251510	SOX9	6662	HP:0002215	Sparse axillary hair
ORPHA:251510	SOX9	6662	HP:0000133	Gonadal dysgenesis
ORPHA:251510	SOX9	6662	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	SOX9	6662	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	SOX9	6662	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	SOX9	6662	HP:0008230	Decreased testosterone in males
ORPHA:251510	SOX9	6662	HP:0000028	Cryptorchidism
ORPHA:251510	SOX9	6662	HP:0000027	Azoospermia
ORPHA:251510	SOX9	6662	HP:0000047	Hypospadias
ORPHA:251510	SOX9	6662	HP:0012244	Abnormal sex determination
ORPHA:251510	SOX9	6662	HP:0000939	Osteoporosis
ORPHA:251510	SOX9	6662	HP:0000771	Gynecomastia
ORPHA:251510	SOX9	6662	HP:0003251	Male infertility
ORPHA:251510	SOX9	6662	HP:0000823	Delayed puberty
ORPHA:251510	SOX9	6662	HP:0000868	Decreased fertility in females
ORPHA:251510	SOX9	6662	HP:0008734	Decreased testicular size
ORPHA:251510	SOX9	6662	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	SOX9	6662	HP:0000054	Micropenis
ORPHA:251510	SOX9	6662	HP:0002225	Sparse pubic hair
ORPHA:251510	SOX9	6662	HP:0008665	Clitoral hypertrophy
ORPHA:251510	SOX9	6662	HP:0000045	Abnormality of the scrotum
ORPHA:251510	SOX9	6662	HP:0000786	Primary amenorrhea
ORPHA:251510	SOX9	6662	HP:0008214	Decreased serum estradiol
ORPHA:251510	SOX9	6662	HP:0010464	Streak ovary
ORPHA:251510	SOX9	6662	HP:0000058	Abnormality of the labia
ORPHA:251510	SOX9	6662	HP:0012870	Vanishing testis
ORPHA:251510	ZFPM2	23414	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	ZFPM2	23414	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	ZFPM2	23414	HP:0000062	Ambiguous genitalia
ORPHA:251510	ZFPM2	23414	HP:0002215	Sparse axillary hair
ORPHA:251510	ZFPM2	23414	HP:0000133	Gonadal dysgenesis
ORPHA:251510	ZFPM2	23414	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	ZFPM2	23414	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	ZFPM2	23414	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	ZFPM2	23414	HP:0008230	Decreased testosterone in males
ORPHA:251510	ZFPM2	23414	HP:0000028	Cryptorchidism
ORPHA:251510	ZFPM2	23414	HP:0000027	Azoospermia
ORPHA:251510	ZFPM2	23414	HP:0000047	Hypospadias
ORPHA:251510	ZFPM2	23414	HP:0012244	Abnormal sex determination
ORPHA:251510	ZFPM2	23414	HP:0000939	Osteoporosis
ORPHA:251510	ZFPM2	23414	HP:0000771	Gynecomastia
ORPHA:251510	ZFPM2	23414	HP:0003251	Male infertility
ORPHA:251510	ZFPM2	23414	HP:0000823	Delayed puberty
ORPHA:251510	ZFPM2	23414	HP:0000868	Decreased fertility in females
ORPHA:251510	ZFPM2	23414	HP:0008734	Decreased testicular size
ORPHA:251510	ZFPM2	23414	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	ZFPM2	23414	HP:0000054	Micropenis
ORPHA:251510	ZFPM2	23414	HP:0002225	Sparse pubic hair
ORPHA:251510	ZFPM2	23414	HP:0008665	Clitoral hypertrophy
ORPHA:251510	ZFPM2	23414	HP:0000045	Abnormality of the scrotum
ORPHA:251510	ZFPM2	23414	HP:0000786	Primary amenorrhea
ORPHA:251510	ZFPM2	23414	HP:0008214	Decreased serum estradiol
ORPHA:251510	ZFPM2	23414	HP:0010464	Streak ovary
ORPHA:251510	ZFPM2	23414	HP:0000058	Abnormality of the labia
ORPHA:251510	ZFPM2	23414	HP:0012870	Vanishing testis
ORPHA:251510	MAP3K1	4214	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	MAP3K1	4214	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	MAP3K1	4214	HP:0000062	Ambiguous genitalia
ORPHA:251510	MAP3K1	4214	HP:0002215	Sparse axillary hair
ORPHA:251510	MAP3K1	4214	HP:0000133	Gonadal dysgenesis
ORPHA:251510	MAP3K1	4214	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	MAP3K1	4214	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	MAP3K1	4214	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	MAP3K1	4214	HP:0008230	Decreased testosterone in males
ORPHA:251510	MAP3K1	4214	HP:0000028	Cryptorchidism
ORPHA:251510	MAP3K1	4214	HP:0000027	Azoospermia
ORPHA:251510	MAP3K1	4214	HP:0000047	Hypospadias
ORPHA:251510	MAP3K1	4214	HP:0012244	Abnormal sex determination
ORPHA:251510	MAP3K1	4214	HP:0000939	Osteoporosis
ORPHA:251510	MAP3K1	4214	HP:0000771	Gynecomastia
ORPHA:251510	MAP3K1	4214	HP:0003251	Male infertility
ORPHA:251510	MAP3K1	4214	HP:0000823	Delayed puberty
ORPHA:251510	MAP3K1	4214	HP:0000868	Decreased fertility in females
ORPHA:251510	MAP3K1	4214	HP:0008734	Decreased testicular size
ORPHA:251510	MAP3K1	4214	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	MAP3K1	4214	HP:0000054	Micropenis
ORPHA:251510	MAP3K1	4214	HP:0002225	Sparse pubic hair
ORPHA:251510	MAP3K1	4214	HP:0008665	Clitoral hypertrophy
ORPHA:251510	MAP3K1	4214	HP:0000045	Abnormality of the scrotum
ORPHA:251510	MAP3K1	4214	HP:0000786	Primary amenorrhea
ORPHA:251510	MAP3K1	4214	HP:0008214	Decreased serum estradiol
ORPHA:251510	MAP3K1	4214	HP:0010464	Streak ovary
ORPHA:251510	MAP3K1	4214	HP:0000058	Abnormality of the labia
ORPHA:251510	MAP3K1	4214	HP:0012870	Vanishing testis
ORPHA:251510	DMRT3	58524	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	DMRT3	58524	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	DMRT3	58524	HP:0000062	Ambiguous genitalia
ORPHA:251510	DMRT3	58524	HP:0002215	Sparse axillary hair
ORPHA:251510	DMRT3	58524	HP:0000133	Gonadal dysgenesis
ORPHA:251510	DMRT3	58524	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	DMRT3	58524	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	DMRT3	58524	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	DMRT3	58524	HP:0008230	Decreased testosterone in males
ORPHA:251510	DMRT3	58524	HP:0000028	Cryptorchidism
ORPHA:251510	DMRT3	58524	HP:0000027	Azoospermia
ORPHA:251510	DMRT3	58524	HP:0000047	Hypospadias
ORPHA:251510	DMRT3	58524	HP:0012244	Abnormal sex determination
ORPHA:251510	DMRT3	58524	HP:0000939	Osteoporosis
ORPHA:251510	DMRT3	58524	HP:0000771	Gynecomastia
ORPHA:251510	DMRT3	58524	HP:0003251	Male infertility
ORPHA:251510	DMRT3	58524	HP:0000823	Delayed puberty
ORPHA:251510	DMRT3	58524	HP:0000868	Decreased fertility in females
ORPHA:251510	DMRT3	58524	HP:0008734	Decreased testicular size
ORPHA:251510	DMRT3	58524	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	DMRT3	58524	HP:0000054	Micropenis
ORPHA:251510	DMRT3	58524	HP:0002225	Sparse pubic hair
ORPHA:251510	DMRT3	58524	HP:0008665	Clitoral hypertrophy
ORPHA:251510	DMRT3	58524	HP:0000045	Abnormality of the scrotum
ORPHA:251510	DMRT3	58524	HP:0000786	Primary amenorrhea
ORPHA:251510	DMRT3	58524	HP:0008214	Decreased serum estradiol
ORPHA:251510	DMRT3	58524	HP:0010464	Streak ovary
ORPHA:251510	DMRT3	58524	HP:0000058	Abnormality of the labia
ORPHA:251510	DMRT3	58524	HP:0012870	Vanishing testis
ORPHA:251510	WWOX	51741	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	WWOX	51741	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	WWOX	51741	HP:0000062	Ambiguous genitalia
ORPHA:251510	WWOX	51741	HP:0002215	Sparse axillary hair
ORPHA:251510	WWOX	51741	HP:0000133	Gonadal dysgenesis
ORPHA:251510	WWOX	51741	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	WWOX	51741	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	WWOX	51741	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	WWOX	51741	HP:0008230	Decreased testosterone in males
ORPHA:251510	WWOX	51741	HP:0000028	Cryptorchidism
ORPHA:251510	WWOX	51741	HP:0000027	Azoospermia
ORPHA:251510	WWOX	51741	HP:0000047	Hypospadias
ORPHA:251510	WWOX	51741	HP:0012244	Abnormal sex determination
ORPHA:251510	WWOX	51741	HP:0000939	Osteoporosis
ORPHA:251510	WWOX	51741	HP:0000771	Gynecomastia
ORPHA:251510	WWOX	51741	HP:0003251	Male infertility
ORPHA:251510	WWOX	51741	HP:0000823	Delayed puberty
ORPHA:251510	WWOX	51741	HP:0000868	Decreased fertility in females
ORPHA:251510	WWOX	51741	HP:0008734	Decreased testicular size
ORPHA:251510	WWOX	51741	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	WWOX	51741	HP:0000054	Micropenis
ORPHA:251510	WWOX	51741	HP:0002225	Sparse pubic hair
ORPHA:251510	WWOX	51741	HP:0008665	Clitoral hypertrophy
ORPHA:251510	WWOX	51741	HP:0000045	Abnormality of the scrotum
ORPHA:251510	WWOX	51741	HP:0000786	Primary amenorrhea
ORPHA:251510	WWOX	51741	HP:0008214	Decreased serum estradiol
ORPHA:251510	WWOX	51741	HP:0010464	Streak ovary
ORPHA:251510	WWOX	51741	HP:0000058	Abnormality of the labia
ORPHA:251510	WWOX	51741	HP:0012870	Vanishing testis
ORPHA:251510	VAMP7	6845	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	VAMP7	6845	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	VAMP7	6845	HP:0000062	Ambiguous genitalia
ORPHA:251510	VAMP7	6845	HP:0002215	Sparse axillary hair
ORPHA:251510	VAMP7	6845	HP:0000133	Gonadal dysgenesis
ORPHA:251510	VAMP7	6845	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	VAMP7	6845	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	VAMP7	6845	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	VAMP7	6845	HP:0008230	Decreased testosterone in males
ORPHA:251510	VAMP7	6845	HP:0000028	Cryptorchidism
ORPHA:251510	VAMP7	6845	HP:0000027	Azoospermia
ORPHA:251510	VAMP7	6845	HP:0000047	Hypospadias
ORPHA:251510	VAMP7	6845	HP:0012244	Abnormal sex determination
ORPHA:251510	VAMP7	6845	HP:0000939	Osteoporosis
ORPHA:251510	VAMP7	6845	HP:0000771	Gynecomastia
ORPHA:251510	VAMP7	6845	HP:0003251	Male infertility
ORPHA:251510	VAMP7	6845	HP:0000823	Delayed puberty
ORPHA:251510	VAMP7	6845	HP:0000868	Decreased fertility in females
ORPHA:251510	VAMP7	6845	HP:0008734	Decreased testicular size
ORPHA:251510	VAMP7	6845	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	VAMP7	6845	HP:0000054	Micropenis
ORPHA:251510	VAMP7	6845	HP:0002225	Sparse pubic hair
ORPHA:251510	VAMP7	6845	HP:0008665	Clitoral hypertrophy
ORPHA:251510	VAMP7	6845	HP:0000045	Abnormality of the scrotum
ORPHA:251510	VAMP7	6845	HP:0000786	Primary amenorrhea
ORPHA:251510	VAMP7	6845	HP:0008214	Decreased serum estradiol
ORPHA:251510	VAMP7	6845	HP:0010464	Streak ovary
ORPHA:251510	VAMP7	6845	HP:0000058	Abnormality of the labia
ORPHA:251510	VAMP7	6845	HP:0012870	Vanishing testis
ORPHA:251510	NR0B1	190	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	NR0B1	190	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	NR0B1	190	HP:0000062	Ambiguous genitalia
ORPHA:251510	NR0B1	190	HP:0002215	Sparse axillary hair
ORPHA:251510	NR0B1	190	HP:0000133	Gonadal dysgenesis
ORPHA:251510	NR0B1	190	HP:0011969	Elevated circulating luteinizing hormone level
ORPHA:251510	NR0B1	190	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	NR0B1	190	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	NR0B1	190	HP:0008230	Decreased testosterone in males
ORPHA:251510	NR0B1	190	HP:0000028	Cryptorchidism
ORPHA:251510	NR0B1	190	HP:0000027	Azoospermia
ORPHA:251510	NR0B1	190	HP:0000047	Hypospadias
ORPHA:251510	NR0B1	190	HP:0012244	Abnormal sex determination
ORPHA:251510	NR0B1	190	HP:0000939	Osteoporosis
ORPHA:251510	NR0B1	190	HP:0000771	Gynecomastia
ORPHA:251510	NR0B1	190	HP:0003251	Male infertility
ORPHA:251510	NR0B1	190	HP:0000823	Delayed puberty
ORPHA:251510	NR0B1	190	HP:0000868	Decreased fertility in females
ORPHA:251510	NR0B1	190	HP:0008734	Decreased testicular size
ORPHA:251510	NR0B1	190	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	NR0B1	190	HP:0000054	Micropenis
ORPHA:251510	NR0B1	190	HP:0002225	Sparse pubic hair
ORPHA:251510	NR0B1	190	HP:0008665	Clitoral hypertrophy
ORPHA:251510	NR0B1	190	HP:0000045	Abnormality of the scrotum
ORPHA:251510	NR0B1	190	HP:0000786	Primary amenorrhea
ORPHA:251510	NR0B1	190	HP:0008214	Decreased serum estradiol
ORPHA:251510	NR0B1	190	HP:0010464	Streak ovary
ORPHA:251510	NR0B1	190	HP:0000058	Abnormality of the labia
ORPHA:251510	NR0B1	190	HP:0012870	Vanishing testis
OMIM:300850	DLG3	1741	HP:0000805	Enuresis
OMIM:300850	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300850	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300850	DLG3	1741	HP:0000486	Strabismus
OMIM:300850	DLG3	1741	HP:0001290	Generalized hypotonia
OMIM:300850	DLG3	1741	HP:0000708	Behavioral abnormality
OMIM:300850	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300850	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300850	DLG3	1741	HP:0001417	X-linked inheritance
ORPHA:207	FGFR2	2263	HP:0000486	Strabismus
ORPHA:207	FGFR2	2263	HP:0000508	Ptosis
ORPHA:207	FGFR2	2263	HP:0000348	High forehead
ORPHA:207	FGFR2	2263	HP:0000405	Conductive hearing impairment
ORPHA:207	FGFR2	2263	HP:0002007	Frontal bossing
ORPHA:207	FGFR2	2263	HP:0001999	Abnormal facial shape
ORPHA:207	FGFR2	2263	HP:0000262	Turricephaly
ORPHA:207	FGFR2	2263	HP:0011324	Multiple suture craniosynostosis
ORPHA:207	FGFR2	2263	HP:0000316	Hypertelorism
ORPHA:207	FGFR2	2263	HP:0000520	Proptosis
ORPHA:207	FGFR2	2263	HP:0000509	Conjunctivitis
ORPHA:207	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
ORPHA:207	FGFR2	2263	HP:0000248	Brachycephaly
ORPHA:207	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
ORPHA:207	FGFR2	2263	HP:0002516	Increased intracranial pressure
ORPHA:207	FGFR2	2263	HP:0001321	Cerebellar hypoplasia
ORPHA:207	FGFR2	2263	HP:0011800	Midface retrusion
ORPHA:207	ERF	2077	HP:0000486	Strabismus
ORPHA:207	ERF	2077	HP:0000508	Ptosis
ORPHA:207	ERF	2077	HP:0000348	High forehead
ORPHA:207	ERF	2077	HP:0000405	Conductive hearing impairment
ORPHA:207	ERF	2077	HP:0002007	Frontal bossing
ORPHA:207	ERF	2077	HP:0001999	Abnormal facial shape
ORPHA:207	ERF	2077	HP:0000262	Turricephaly
ORPHA:207	ERF	2077	HP:0011324	Multiple suture craniosynostosis
ORPHA:207	ERF	2077	HP:0000316	Hypertelorism
ORPHA:207	ERF	2077	HP:0000520	Proptosis
ORPHA:207	ERF	2077	HP:0000509	Conjunctivitis
ORPHA:207	ERF	2077	HP:0002308	Arnold-Chiari malformation
ORPHA:207	ERF	2077	HP:0000248	Brachycephaly
ORPHA:207	ERF	2077	HP:0000327	Hypoplasia of the maxilla
ORPHA:207	ERF	2077	HP:0002516	Increased intracranial pressure
ORPHA:207	ERF	2077	HP:0001321	Cerebellar hypoplasia
ORPHA:207	ERF	2077	HP:0011800	Midface retrusion
OMIM:148350	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:148350	GJB2	2706	HP:0000365	Hearing impairment
OMIM:148350	GJB2	2706	HP:0000972	Palmoplantar hyperkeratosis
OMIM:601001	KRT14	3861	HP:0003828	Variable expressivity
OMIM:601001	KRT14	3861	HP:0003577	Congenital onset
OMIM:601001	KRT14	3861	HP:0000007	Autosomal recessive inheritance
OMIM:601001	KRT14	3861	HP:0001805	Thick nail
OMIM:601001	KRT14	3861	HP:0001807	Ridged nail
OMIM:601001	KRT5	3852	HP:0003828	Variable expressivity
OMIM:601001	KRT5	3852	HP:0003577	Congenital onset
OMIM:601001	KRT5	3852	HP:0000007	Autosomal recessive inheritance
OMIM:601001	KRT5	3852	HP:0001805	Thick nail
OMIM:601001	KRT5	3852	HP:0001807	Ridged nail
OMIM:615780	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615780	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:615780	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615780	KIZ	55857	HP:0000580	Pigmentary retinopathy
OMIM:615780	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:615821	DSP	1832	HP:0001036	Parakeratosis
OMIM:615821	DSP	1832	HP:0030816	Gingival recession
OMIM:615821	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:615821	DSP	1832	HP:0002224	Woolly hair
OMIM:615821	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:615821	DSP	1832	HP:0001644	Dilated cardiomyopathy
OMIM:615821	DSP	1832	HP:0009804	Reduced number of teeth
OMIM:607736	MPZ	4359	HP:0001284	Areflexia
OMIM:607736	MPZ	4359	HP:0003378	Axonal degeneration/regeneration
OMIM:607736	MPZ	4359	HP:0002015	Dysphagia
OMIM:607736	MPZ	4359	HP:0001761	Pes cavus
OMIM:607736	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:607736	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607736	MPZ	4359	HP:0000407	Sensorineural hearing impairment
OMIM:607736	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607736	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:607736	MPZ	4359	HP:0003376	Steppage gait
OMIM:607736	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:607736	MPZ	4359	HP:0011096	Peripheral demyelination
OMIM:607736	MPZ	4359	HP:0000408	Progressive sensorineural hearing impairment
OMIM:607736	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:607736	MPZ	4359	HP:0002086	Abnormality of the respiratory system
OMIM:607736	MPZ	4359	HP:0000478	Abnormality of the eye
OMIM:613721	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:613721	SCN2A	6326	HP:0003593	Infantile onset
OMIM:613721	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613721	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:613721	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:613721	SCN2A	6326	HP:0002510	Spastic tetraplegia
OMIM:613195	ADAMTS17	170691	HP:0001083	Ectopia lentis
OMIM:613195	ADAMTS17	170691	HP:0004322	Short stature
OMIM:613195	ADAMTS17	170691	HP:0000501	Glaucoma
OMIM:613195	ADAMTS17	170691	HP:0000007	Autosomal recessive inheritance
OMIM:128100	TOR1A	1861	HP:0001304	Torsion dystonia
OMIM:128100	TOR1A	1861	HP:0002356	Writer's cramp
OMIM:128100	TOR1A	1861	HP:0001337	Tremor
OMIM:128100	TOR1A	1861	HP:0000473	Torticollis
OMIM:128100	TOR1A	1861	HP:0000716	Depressivity
OMIM:128100	TOR1A	1861	HP:0003307	Hyperlordosis
OMIM:128100	TOR1A	1861	HP:0001290	Generalized hypotonia
OMIM:128100	TOR1A	1861	HP:0001260	Dysarthria
OMIM:128100	TOR1A	1861	HP:0002808	Kyphosis
OMIM:128100	TOR1A	1861	HP:0002533	Abnormal posturing
OMIM:128100	TOR1A	1861	HP:0000643	Blepharospasm
OMIM:128100	TOR1A	1861	HP:0002650	Scoliosis
OMIM:128100	TOR1A	1861	HP:0001276	Hypertonia
OMIM:128100	TOR1A	1861	HP:0000006	Autosomal dominant inheritance
OMIM:613073	MMP9	4318	HP:0100864	Short femoral neck
OMIM:613073	MMP9	4318	HP:0003016	Metaphyseal widening
OMIM:613073	MMP9	4318	HP:0003025	Metaphyseal irregularity
OMIM:613073	MMP9	4318	HP:0000007	Autosomal recessive inheritance
OMIM:613073	MMP9	4318	HP:0002979	Bowing of the legs
ORPHA:2388	VPS13A	23230	HP:0012378	Fatigue
ORPHA:2388	VPS13A	23230	HP:0002072	Chorea
ORPHA:2388	VPS13A	23230	HP:0001284	Areflexia
ORPHA:2388	VPS13A	23230	HP:0000183	Difficulty in tongue movements
ORPHA:2388	VPS13A	23230	HP:0001288	Gait disturbance
ORPHA:2388	VPS13A	23230	HP:0002310	Orofacial dyskinesia
ORPHA:2388	VPS13A	23230	HP:0000504	Abnormality of vision
ORPHA:2388	VPS13A	23230	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:2388	VPS13A	23230	HP:0002354	Memory impairment
ORPHA:2388	VPS13A	23230	HP:0008955	Progressive distal muscular atrophy
ORPHA:2388	VPS13A	23230	HP:0010808	Protruding tongue
ORPHA:2388	VPS13A	23230	HP:0003457	EMG abnormality
ORPHA:2388	VPS13A	23230	HP:0001332	Dystonia
ORPHA:2388	VPS13A	23230	HP:0008959	Distal upper limb muscle weakness
ORPHA:2388	VPS13A	23230	HP:0002119	Ventriculomegaly
ORPHA:2388	VPS13A	23230	HP:0000739	Anxiety
ORPHA:2388	VPS13A	23230	HP:0012086	Abnormal urinary color
ORPHA:2388	VPS13A	23230	HP:0001252	Muscular hypotonia
ORPHA:2388	VPS13A	23230	HP:0001337	Tremor
ORPHA:2388	VPS13A	23230	HP:0001927	Acanthocytosis
ORPHA:2388	VPS13A	23230	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:2388	VPS13A	23230	HP:0100613	Death in early adulthood
ORPHA:2388	VPS13A	23230	HP:0010526	Dysgraphia
ORPHA:2388	VPS13A	23230	HP:0001250	Seizures
ORPHA:2388	VPS13A	23230	HP:0000980	Pallor
ORPHA:2388	VPS13A	23230	HP:0009830	Peripheral neuropathy
ORPHA:2388	VPS13A	23230	HP:0001251	Ataxia
ORPHA:2388	VPS13A	23230	HP:0003198	Myopathy
ORPHA:2388	VPS13A	23230	HP:0100295	Muscle fiber atrophy
ORPHA:2388	VPS13A	23230	HP:0001892	Abnormal bleeding
ORPHA:2388	VPS13A	23230	HP:0001260	Dysarthria
ORPHA:2388	VPS13A	23230	HP:0002376	Developmental regression
ORPHA:2388	VPS13A	23230	HP:0002120	Cerebral cortical atrophy
ORPHA:2388	VPS13A	23230	HP:0003690	Limb muscle weakness
OMIM:613517	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:613517	PRSS56	646960	HP:0030823	Scleral thickening
OMIM:613517	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:616867	ASCC1	51008	HP:0000007	Autosomal recessive inheritance
OMIM:616867	ASCC1	51008	HP:0003577	Congenital onset
OMIM:616867	ASCC1	51008	HP:0007269	Spinal muscular atrophy
OMIM:616867	ASCC1	51008	HP:0003557	Increased variability in muscle fiber diameter
OMIM:616867	ASCC1	51008	HP:0003447	Axonal loss
OMIM:616867	ASCC1	51008	HP:0003477	Peripheral axonal neuropathy
OMIM:616867	ASCC1	51008	HP:0002878	Respiratory failure
OMIM:616867	ASCC1	51008	HP:0001290	Generalized hypotonia
ORPHA:99027	LMNB1	4001	HP:0000802	Impotence
ORPHA:99027	LMNB1	4001	HP:0000012	Urinary urgency
ORPHA:99027	LMNB1	4001	HP:0001288	Gait disturbance
ORPHA:99027	LMNB1	4001	HP:0001257	Spasticity
ORPHA:99027	LMNB1	4001	HP:0000639	Nystagmus
ORPHA:99027	LMNB1	4001	HP:0001337	Tremor
ORPHA:99027	LMNB1	4001	HP:0007256	Abnormal pyramidal signs
ORPHA:99027	LMNB1	4001	HP:0002019	Constipation
ORPHA:99027	LMNB1	4001	HP:0010955	Dilatation of the bladder
ORPHA:99027	LMNB1	4001	HP:0002273	Tetraparesis
ORPHA:99027	LMNB1	4001	HP:0002615	Hypotension
ORPHA:99027	LMNB1	4001	HP:0001251	Ataxia
ORPHA:99027	LMNB1	4001	HP:0001347	Hyperreflexia
OMIM:614087	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:614087	FANCM	57697	HP:0001903	Anemia
OMIM:614087	FANCM	57697	HP:0001510	Growth delay
OMIM:614087	FANCM	57697	HP:0000007	Autosomal recessive inheritance
ORPHA:2645	FGFR1	2260	HP:0000411	Protruding ear
ORPHA:2645	FGFR1	2260	HP:0000347	Micrognathia
ORPHA:2645	FGFR1	2260	HP:0001363	Craniosynostosis
ORPHA:2645	FGFR1	2260	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2645	FGFR1	2260	HP:0000316	Hypertelorism
ORPHA:2645	FGFR1	2260	HP:0003510	Severe short stature
ORPHA:2645	FGFR1	2260	HP:0000889	Abnormality of the clavicle
ORPHA:2645	FGFR1	2260	HP:0006283	Multiple unerupted teeth
ORPHA:2645	FGFR1	2260	HP:0008905	Rhizomelia
ORPHA:2645	FGFR1	2260	HP:0002750	Delayed skeletal maturation
ORPHA:2645	FGFR1	2260	HP:0001531	Failure to thrive in infancy
ORPHA:2645	FGFR1	2260	HP:0000463	Anteverted nares
ORPHA:2645	FGFR1	2260	HP:0009804	Reduced number of teeth
ORPHA:431329	TFG	10342	HP:0003551	Difficulty climbing stairs
ORPHA:431329	TFG	10342	HP:0002540	Inability to walk
ORPHA:431329	TFG	10342	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:431329	TFG	10342	HP:0008944	Distal lower limb amyotrophy
ORPHA:431329	TFG	10342	HP:0005109	Abnormality of the Achilles tendon
ORPHA:431329	TFG	10342	HP:0003698	Difficulty standing
ORPHA:431329	TFG	10342	HP:0007141	Sensorimotor neuropathy
ORPHA:431329	TFG	10342	HP:0012447	Abnormal myelination
ORPHA:431329	TFG	10342	HP:0007178	Motor polyneuropathy
ORPHA:431329	TFG	10342	HP:0000648	Optic atrophy
ORPHA:431329	TFG	10342	HP:0001258	Spastic paraplegia
ORPHA:431329	TFG	10342	HP:0003487	Babinski sign
OMIM:617190	ASXL2	55252	HP:0000316	Hypertelorism
OMIM:617190	ASXL2	55252	HP:0000256	Macrocephaly
OMIM:617190	ASXL2	55252	HP:0001263	Global developmental delay
OMIM:617190	ASXL2	55252	HP:0002119	Ventriculomegaly
OMIM:617190	ASXL2	55252	HP:0002650	Scoliosis
OMIM:617190	ASXL2	55252	HP:0003593	Infantile onset
OMIM:617190	ASXL2	55252	HP:0000006	Autosomal dominant inheritance
OMIM:617190	ASXL2	55252	HP:0000520	Proptosis
OMIM:617190	ASXL2	55252	HP:0000369	Low-set ears
OMIM:617190	ASXL2	55252	HP:0000276	Long face
OMIM:617190	ASXL2	55252	HP:0000455	Broad nasal tip
OMIM:617190	ASXL2	55252	HP:0000750	Delayed speech and language development
OMIM:617190	ASXL2	55252	HP:0002808	Kyphosis
OMIM:617190	ASXL2	55252	HP:0008872	Feeding difficulties in infancy
OMIM:617190	ASXL2	55252	HP:0000278	Retrognathia
OMIM:617190	ASXL2	55252	HP:0002553	Highly arched eyebrow
OMIM:617190	ASXL2	55252	HP:0006191	Deep palmar crease
OMIM:617190	ASXL2	55252	HP:0000358	Posteriorly rotated ears
OMIM:617190	ASXL2	55252	HP:0000508	Ptosis
OMIM:617190	ASXL2	55252	HP:0001290	Generalized hypotonia
OMIM:617190	ASXL2	55252	HP:0003812	Phenotypic variability
OMIM:617190	ASXL2	55252	HP:0001249	Intellectual disability
OMIM:617190	ASXL2	55252	HP:0001631	Atrial septal defect
ORPHA:79235	UGT1A1	54658	HP:0008282	Unconjugated hyperbilirubinemia
ORPHA:79235	UGT1A1	54658	HP:0003265	Neonatal hyperbilirubinemia
ORPHA:79235	UGT1A1	54658	HP:0006579	Prolonged neonatal jaundice
ORPHA:2253	PAX6	5080	HP:0000486	Strabismus
ORPHA:2253	PAX6	5080	HP:0000639	Nystagmus
ORPHA:2253	PAX6	5080	HP:0000504	Abnormality of vision
ORPHA:2253	PAX6	5080	HP:0000648	Optic atrophy
ORPHA:2253	PAX6	5080	HP:0000518	Cataract
ORPHA:2253	PAX6	5080	HP:0007440	Generalized hyperpigmentation
OMIM:613810	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613810	PDE6A	5145	HP:0000580	Pigmentary retinopathy
OMIM:613810	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613810	PDE6A	5145	HP:0007994	Peripheral visual field loss
OMIM:613810	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613810	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613810	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613810	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
ORPHA:370943	SLC35A3	23443	HP:0004976	Knee dislocation
ORPHA:370943	SLC35A3	23443	HP:0001256	Intellectual disability, mild
ORPHA:370943	SLC35A3	23443	HP:0000729	Autistic behavior
OMIM:612692	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:612692	CD79B	974	HP:0006532	Recurrent pneumonia
OMIM:612692	CD79B	974	HP:0000403	Recurrent otitis media
OMIM:612692	CD79B	974	HP:0003593	Infantile onset
OMIM:612692	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:612692	CD79B	974	HP:0000509	Conjunctivitis
OMIM:612692	CD79B	974	HP:0011109	Chronic sinusitis
OMIM:612692	CD79B	974	HP:0002837	Recurrent bronchitis
OMIM:612692	CD79B	974	HP:0002014	Diarrhea
OMIM:612692	CD79B	974	HP:0004432	Agammaglobulinemia
ORPHA:370921	STT3A	3703	HP:0000028	Cryptorchidism
ORPHA:370921	STT3A	3703	HP:0001249	Intellectual disability
ORPHA:370921	STT3A	3703	HP:0001508	Failure to thrive
ORPHA:370921	STT3A	3703	HP:0000054	Micropenis
ORPHA:370921	STT3A	3703	HP:0001250	Seizures
ORPHA:370921	STT3A	3703	HP:0001290	Generalized hypotonia
ORPHA:370921	STT3A	3703	HP:0007772	Impaired smooth pursuit
ORPHA:370921	STT3A	3703	HP:0012345	Abnormal glycosylation
ORPHA:370921	STT3A	3703	HP:0001272	Cerebellar atrophy
ORPHA:370921	STT3A	3703	HP:0000252	Microcephaly
ORPHA:370921	STT3A	3703	HP:0001263	Global developmental delay
ORPHA:370921	STT3A	3703	HP:0011968	Feeding difficulties
ORPHA:370921	STT3A	3703	HP:0000046	Scrotal hypoplasia
ORPHA:281127	TGM1	7051	HP:0008064	Ichthyosis
ORPHA:93474	IDUA	3425	HP:0008155	Mucopolysacchariduria
ORPHA:93474	IDUA	3425	HP:0000280	Coarse facial features
ORPHA:93474	IDUA	3425	HP:0007957	Corneal opacity
ORPHA:93474	IDUA	3425	HP:0001744	Splenomegaly
ORPHA:93474	IDUA	3425	HP:0002240	Hepatomegaly
ORPHA:93474	IDUA	3425	HP:0040129	Abnormal nerve conduction velocity
ORPHA:93474	IDUA	3425	HP:0000232	Everted lower lip vermilion
ORPHA:93474	IDUA	3425	HP:0012471	Thick vermilion border
ORPHA:93474	IDUA	3425	HP:0000501	Glaucoma
ORPHA:93474	IDUA	3425	HP:0100021	Cerebral palsy
ORPHA:93474	IDUA	3425	HP:0001659	Aortic regurgitation
ORPHA:100006	APP	351	HP:0000726	Dementia
ORPHA:100006	APP	351	HP:0001297	Stroke
ORPHA:100006	APP	351	HP:0001250	Seizures
ORPHA:100006	APP	351	HP:0000708	Behavioral abnormality
ORPHA:100006	APP	351	HP:0011970	Cerebral amyloid angiopathy
ORPHA:100006	APP	351	HP:0001342	Cerebral hemorrhage
ORPHA:100006	APP	351	HP:0002315	Headache
ORPHA:100006	APP	351	HP:0002514	Cerebral calcification
ORPHA:435651	CIDEC	63924	HP:0001397	Hepatic steatosis
ORPHA:435651	CIDEC	63924	HP:0030685	Decreased adiponectin level
ORPHA:435651	CIDEC	63924	HP:0003292	Decreased serum leptin
ORPHA:435651	CIDEC	63924	HP:0009042	Marked muscular hypertrophy
ORPHA:435651	CIDEC	63924	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:435651	CIDEC	63924	HP:0002155	Hypertriglyceridemia
ORPHA:435651	CIDEC	63924	HP:0009017	Loss of gluteal subcutaneous adipose tissue
ORPHA:435651	CIDEC	63924	HP:0000147	Polycystic ovaries
ORPHA:435651	CIDEC	63924	HP:0000876	Oligomenorrhea
ORPHA:435651	CIDEC	63924	HP:0009125	Lipodystrophy
ORPHA:435651	CIDEC	63924	HP:0001733	Pancreatitis
ORPHA:435651	CIDEC	63924	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:435651	CIDEC	63924	HP:0008981	Calf muscle hypertrophy
ORPHA:435651	CIDEC	63924	HP:0002240	Hepatomegaly
ORPHA:435651	CIDEC	63924	HP:0000956	Acanthosis nigricans
OMIM:194190	LETM1	3954	HP:0002553	Highly arched eyebrow
OMIM:194190	LETM1	3954	HP:0001331	Absent septum pellucidum
OMIM:194190	LETM1	3954	HP:0002162	Low posterior hairline
OMIM:194190	LETM1	3954	HP:0000188	Short upper lip
OMIM:194190	LETM1	3954	HP:0000286	Epicanthus
OMIM:194190	LETM1	3954	HP:0001812	Hyperconvex fingernails
OMIM:194190	LETM1	3954	HP:0002714	Downturned corners of mouth
OMIM:194190	LETM1	3954	HP:0006655	Rib segmentation abnormalities
OMIM:194190	LETM1	3954	HP:0002827	Hip dislocation
OMIM:194190	LETM1	3954	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	LETM1	3954	HP:0001762	Talipes equinovarus
OMIM:194190	LETM1	3954	HP:0007109	Periventricular cysts
OMIM:194190	LETM1	3954	HP:0004322	Short stature
OMIM:194190	LETM1	3954	HP:0000431	Wide nasal bridge
OMIM:194190	LETM1	3954	HP:0000322	Short philtrum
OMIM:194190	LETM1	3954	HP:0002808	Kyphosis
OMIM:194190	LETM1	3954	HP:0002974	Radioulnar synostosis
OMIM:194190	LETM1	3954	HP:0002119	Ventriculomegaly
OMIM:194190	LETM1	3954	HP:0000668	Hypodontia
OMIM:194190	LETM1	3954	HP:0001250	Seizures
OMIM:194190	LETM1	3954	HP:0000377	Abnormality of the pinna
OMIM:194190	LETM1	3954	HP:0009918	Ectopia pupillae
OMIM:194190	LETM1	3954	HP:0001518	Small for gestational age
OMIM:194190	LETM1	3954	HP:0001747	Accessory spleen
OMIM:194190	LETM1	3954	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	LETM1	3954	HP:0003745	Sporadic
OMIM:194190	LETM1	3954	HP:0000204	Cleft upper lip
OMIM:194190	LETM1	3954	HP:0001558	Decreased fetal movement
OMIM:194190	LETM1	3954	HP:0002389	Cavum septum pellucidum
OMIM:194190	LETM1	3954	HP:0002650	Scoliosis
OMIM:194190	LETM1	3954	HP:0001263	Global developmental delay
OMIM:194190	LETM1	3954	HP:0002020	Gastroesophageal reflux
OMIM:194190	LETM1	3954	HP:0000826	Precocious puberty
OMIM:194190	LETM1	3954	HP:0001028	Hemangioma
OMIM:194190	LETM1	3954	HP:0011863	Abnormal sternal ossification
OMIM:194190	LETM1	3954	HP:0001290	Generalized hypotonia
OMIM:194190	LETM1	3954	HP:0000508	Ptosis
OMIM:194190	LETM1	3954	HP:0000902	Rib fusion
OMIM:194190	LETM1	3954	HP:0000486	Strabismus
OMIM:194190	LETM1	3954	HP:0000520	Proptosis
OMIM:194190	LETM1	3954	HP:0008850	Severe postnatal growth retardation
OMIM:194190	LETM1	3954	HP:0000384	Preauricular skin tag
OMIM:194190	LETM1	3954	HP:0000006	Autosomal dominant inheritance
OMIM:194190	LETM1	3954	HP:0001840	Metatarsus adductus
OMIM:194190	LETM1	3954	HP:0000558	Rieger anomaly
OMIM:194190	LETM1	3954	HP:0001629	Ventricular septal defect
OMIM:194190	LETM1	3954	HP:0001511	Intrauterine growth retardation
OMIM:194190	LETM1	3954	HP:0000252	Microcephaly
OMIM:194190	LETM1	3954	HP:0000347	Micrognathia
OMIM:194190	LETM1	3954	HP:0002750	Delayed skeletal maturation
OMIM:194190	LETM1	3954	HP:0002948	Vertebral fusion
OMIM:194190	LETM1	3954	HP:0004467	Preauricular pit
OMIM:194190	LETM1	3954	HP:0002057	Prominent glabella
OMIM:194190	LETM1	3954	HP:0010864	Intellectual disability, severe
OMIM:194190	LETM1	3954	HP:0003199	Decreased muscle mass
OMIM:194190	LETM1	3954	HP:0000348	High forehead
OMIM:194190	LETM1	3954	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:194190	LETM1	3954	HP:0000175	Cleft palate
OMIM:194190	LETM1	3954	HP:0000316	Hypertelorism
OMIM:194190	LETM1	3954	HP:0000639	Nystagmus
OMIM:194190	LETM1	3954	HP:0000733	Stereotypy
OMIM:194190	LETM1	3954	HP:0004484	Craniofacial asymmetry
OMIM:194190	LETM1	3954	HP:0000444	Convex nasal ridge
OMIM:194190	LETM1	3954	HP:0001508	Failure to thrive
OMIM:194190	LETM1	3954	HP:0004794	Malrotation of small bowel
OMIM:194190	FGFRL1	53834	HP:0002553	Highly arched eyebrow
OMIM:194190	FGFRL1	53834	HP:0001331	Absent septum pellucidum
OMIM:194190	FGFRL1	53834	HP:0002162	Low posterior hairline
OMIM:194190	FGFRL1	53834	HP:0000188	Short upper lip
OMIM:194190	FGFRL1	53834	HP:0000286	Epicanthus
OMIM:194190	FGFRL1	53834	HP:0001812	Hyperconvex fingernails
OMIM:194190	FGFRL1	53834	HP:0002714	Downturned corners of mouth
OMIM:194190	FGFRL1	53834	HP:0006655	Rib segmentation abnormalities
OMIM:194190	FGFRL1	53834	HP:0002827	Hip dislocation
OMIM:194190	FGFRL1	53834	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	FGFRL1	53834	HP:0001762	Talipes equinovarus
OMIM:194190	FGFRL1	53834	HP:0007109	Periventricular cysts
OMIM:194190	FGFRL1	53834	HP:0004322	Short stature
OMIM:194190	FGFRL1	53834	HP:0000431	Wide nasal bridge
OMIM:194190	FGFRL1	53834	HP:0000322	Short philtrum
OMIM:194190	FGFRL1	53834	HP:0002808	Kyphosis
OMIM:194190	FGFRL1	53834	HP:0002974	Radioulnar synostosis
OMIM:194190	FGFRL1	53834	HP:0002119	Ventriculomegaly
OMIM:194190	FGFRL1	53834	HP:0000668	Hypodontia
OMIM:194190	FGFRL1	53834	HP:0001250	Seizures
OMIM:194190	FGFRL1	53834	HP:0000377	Abnormality of the pinna
OMIM:194190	FGFRL1	53834	HP:0009918	Ectopia pupillae
OMIM:194190	FGFRL1	53834	HP:0001518	Small for gestational age
OMIM:194190	FGFRL1	53834	HP:0001747	Accessory spleen
OMIM:194190	FGFRL1	53834	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	FGFRL1	53834	HP:0003745	Sporadic
OMIM:194190	FGFRL1	53834	HP:0000204	Cleft upper lip
OMIM:194190	FGFRL1	53834	HP:0001558	Decreased fetal movement
OMIM:194190	FGFRL1	53834	HP:0002389	Cavum septum pellucidum
OMIM:194190	FGFRL1	53834	HP:0002650	Scoliosis
OMIM:194190	FGFRL1	53834	HP:0001263	Global developmental delay
OMIM:194190	FGFRL1	53834	HP:0002020	Gastroesophageal reflux
OMIM:194190	FGFRL1	53834	HP:0000826	Precocious puberty
OMIM:194190	FGFRL1	53834	HP:0001028	Hemangioma
OMIM:194190	FGFRL1	53834	HP:0011863	Abnormal sternal ossification
OMIM:194190	FGFRL1	53834	HP:0001290	Generalized hypotonia
OMIM:194190	FGFRL1	53834	HP:0000508	Ptosis
OMIM:194190	FGFRL1	53834	HP:0000902	Rib fusion
OMIM:194190	FGFRL1	53834	HP:0000486	Strabismus
OMIM:194190	FGFRL1	53834	HP:0000520	Proptosis
OMIM:194190	FGFRL1	53834	HP:0008850	Severe postnatal growth retardation
OMIM:194190	FGFRL1	53834	HP:0000384	Preauricular skin tag
OMIM:194190	FGFRL1	53834	HP:0000006	Autosomal dominant inheritance
OMIM:194190	FGFRL1	53834	HP:0001840	Metatarsus adductus
OMIM:194190	FGFRL1	53834	HP:0000558	Rieger anomaly
OMIM:194190	FGFRL1	53834	HP:0001629	Ventricular septal defect
OMIM:194190	FGFRL1	53834	HP:0001511	Intrauterine growth retardation
OMIM:194190	FGFRL1	53834	HP:0000252	Microcephaly
OMIM:194190	FGFRL1	53834	HP:0000347	Micrognathia
OMIM:194190	FGFRL1	53834	HP:0002750	Delayed skeletal maturation
OMIM:194190	FGFRL1	53834	HP:0002948	Vertebral fusion
OMIM:194190	FGFRL1	53834	HP:0004467	Preauricular pit
OMIM:194190	FGFRL1	53834	HP:0002057	Prominent glabella
OMIM:194190	FGFRL1	53834	HP:0010864	Intellectual disability, severe
OMIM:194190	FGFRL1	53834	HP:0003199	Decreased muscle mass
OMIM:194190	FGFRL1	53834	HP:0000348	High forehead
OMIM:194190	FGFRL1	53834	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:194190	FGFRL1	53834	HP:0000175	Cleft palate
OMIM:194190	FGFRL1	53834	HP:0000316	Hypertelorism
OMIM:194190	FGFRL1	53834	HP:0000639	Nystagmus
OMIM:194190	FGFRL1	53834	HP:0000733	Stereotypy
OMIM:194190	FGFRL1	53834	HP:0004484	Craniofacial asymmetry
OMIM:194190	FGFRL1	53834	HP:0000444	Convex nasal ridge
OMIM:194190	FGFRL1	53834	HP:0001508	Failure to thrive
OMIM:194190	FGFRL1	53834	HP:0004794	Malrotation of small bowel
OMIM:194190	NSD2	7468	HP:0002553	Highly arched eyebrow
OMIM:194190	NSD2	7468	HP:0001331	Absent septum pellucidum
OMIM:194190	NSD2	7468	HP:0002162	Low posterior hairline
OMIM:194190	NSD2	7468	HP:0000188	Short upper lip
OMIM:194190	NSD2	7468	HP:0000286	Epicanthus
OMIM:194190	NSD2	7468	HP:0001812	Hyperconvex fingernails
OMIM:194190	NSD2	7468	HP:0002714	Downturned corners of mouth
OMIM:194190	NSD2	7468	HP:0006655	Rib segmentation abnormalities
OMIM:194190	NSD2	7468	HP:0002827	Hip dislocation
OMIM:194190	NSD2	7468	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	NSD2	7468	HP:0001762	Talipes equinovarus
OMIM:194190	NSD2	7468	HP:0007109	Periventricular cysts
OMIM:194190	NSD2	7468	HP:0004322	Short stature
OMIM:194190	NSD2	7468	HP:0000431	Wide nasal bridge
OMIM:194190	NSD2	7468	HP:0000322	Short philtrum
OMIM:194190	NSD2	7468	HP:0002808	Kyphosis
OMIM:194190	NSD2	7468	HP:0002974	Radioulnar synostosis
OMIM:194190	NSD2	7468	HP:0002119	Ventriculomegaly
OMIM:194190	NSD2	7468	HP:0000668	Hypodontia
OMIM:194190	NSD2	7468	HP:0001250	Seizures
OMIM:194190	NSD2	7468	HP:0000377	Abnormality of the pinna
OMIM:194190	NSD2	7468	HP:0009918	Ectopia pupillae
OMIM:194190	NSD2	7468	HP:0001518	Small for gestational age
OMIM:194190	NSD2	7468	HP:0001747	Accessory spleen
OMIM:194190	NSD2	7468	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	NSD2	7468	HP:0003745	Sporadic
OMIM:194190	NSD2	7468	HP:0000204	Cleft upper lip
OMIM:194190	NSD2	7468	HP:0001558	Decreased fetal movement
OMIM:194190	NSD2	7468	HP:0002389	Cavum septum pellucidum
OMIM:194190	NSD2	7468	HP:0002650	Scoliosis
OMIM:194190	NSD2	7468	HP:0001263	Global developmental delay
OMIM:194190	NSD2	7468	HP:0002020	Gastroesophageal reflux
OMIM:194190	NSD2	7468	HP:0000826	Precocious puberty
OMIM:194190	NSD2	7468	HP:0001028	Hemangioma
OMIM:194190	NSD2	7468	HP:0011863	Abnormal sternal ossification
OMIM:194190	NSD2	7468	HP:0001290	Generalized hypotonia
OMIM:194190	NSD2	7468	HP:0000508	Ptosis
OMIM:194190	NSD2	7468	HP:0000902	Rib fusion
OMIM:194190	NSD2	7468	HP:0000486	Strabismus
OMIM:194190	NSD2	7468	HP:0000520	Proptosis
OMIM:194190	NSD2	7468	HP:0008850	Severe postnatal growth retardation
OMIM:194190	NSD2	7468	HP:0000384	Preauricular skin tag
OMIM:194190	NSD2	7468	HP:0000006	Autosomal dominant inheritance
OMIM:194190	NSD2	7468	HP:0001840	Metatarsus adductus
OMIM:194190	NSD2	7468	HP:0000558	Rieger anomaly
OMIM:194190	NSD2	7468	HP:0001629	Ventricular septal defect
OMIM:194190	NSD2	7468	HP:0001511	Intrauterine growth retardation
OMIM:194190	NSD2	7468	HP:0000252	Microcephaly
OMIM:194190	NSD2	7468	HP:0000347	Micrognathia
OMIM:194190	NSD2	7468	HP:0002750	Delayed skeletal maturation
OMIM:194190	NSD2	7468	HP:0002948	Vertebral fusion
OMIM:194190	NSD2	7468	HP:0004467	Preauricular pit
OMIM:194190	NSD2	7468	HP:0002057	Prominent glabella
OMIM:194190	NSD2	7468	HP:0010864	Intellectual disability, severe
OMIM:194190	NSD2	7468	HP:0003199	Decreased muscle mass
OMIM:194190	NSD2	7468	HP:0000348	High forehead
OMIM:194190	NSD2	7468	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:194190	NSD2	7468	HP:0000175	Cleft palate
OMIM:194190	NSD2	7468	HP:0000316	Hypertelorism
OMIM:194190	NSD2	7468	HP:0000639	Nystagmus
OMIM:194190	NSD2	7468	HP:0000733	Stereotypy
OMIM:194190	NSD2	7468	HP:0004484	Craniofacial asymmetry
OMIM:194190	NSD2	7468	HP:0000444	Convex nasal ridge
OMIM:194190	NSD2	7468	HP:0001508	Failure to thrive
OMIM:194190	NSD2	7468	HP:0004794	Malrotation of small bowel
OMIM:194190	CPLX1	10815	HP:0002553	Highly arched eyebrow
OMIM:194190	CPLX1	10815	HP:0001331	Absent septum pellucidum
OMIM:194190	CPLX1	10815	HP:0002162	Low posterior hairline
OMIM:194190	CPLX1	10815	HP:0000188	Short upper lip
OMIM:194190	CPLX1	10815	HP:0000286	Epicanthus
OMIM:194190	CPLX1	10815	HP:0001812	Hyperconvex fingernails
OMIM:194190	CPLX1	10815	HP:0002714	Downturned corners of mouth
OMIM:194190	CPLX1	10815	HP:0006655	Rib segmentation abnormalities
OMIM:194190	CPLX1	10815	HP:0002827	Hip dislocation
OMIM:194190	CPLX1	10815	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	CPLX1	10815	HP:0001762	Talipes equinovarus
OMIM:194190	CPLX1	10815	HP:0007109	Periventricular cysts
OMIM:194190	CPLX1	10815	HP:0004322	Short stature
OMIM:194190	CPLX1	10815	HP:0000431	Wide nasal bridge
OMIM:194190	CPLX1	10815	HP:0000322	Short philtrum
OMIM:194190	CPLX1	10815	HP:0002808	Kyphosis
OMIM:194190	CPLX1	10815	HP:0002974	Radioulnar synostosis
OMIM:194190	CPLX1	10815	HP:0002119	Ventriculomegaly
OMIM:194190	CPLX1	10815	HP:0000668	Hypodontia
OMIM:194190	CPLX1	10815	HP:0001250	Seizures
OMIM:194190	CPLX1	10815	HP:0000377	Abnormality of the pinna
OMIM:194190	CPLX1	10815	HP:0009918	Ectopia pupillae
OMIM:194190	CPLX1	10815	HP:0001518	Small for gestational age
OMIM:194190	CPLX1	10815	HP:0001747	Accessory spleen
OMIM:194190	CPLX1	10815	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	CPLX1	10815	HP:0003745	Sporadic
OMIM:194190	CPLX1	10815	HP:0000204	Cleft upper lip
OMIM:194190	CPLX1	10815	HP:0001558	Decreased fetal movement
OMIM:194190	CPLX1	10815	HP:0002389	Cavum septum pellucidum
OMIM:194190	CPLX1	10815	HP:0002650	Scoliosis
OMIM:194190	CPLX1	10815	HP:0001263	Global developmental delay
OMIM:194190	CPLX1	10815	HP:0002020	Gastroesophageal reflux
OMIM:194190	CPLX1	10815	HP:0000826	Precocious puberty
OMIM:194190	CPLX1	10815	HP:0001028	Hemangioma
OMIM:194190	CPLX1	10815	HP:0011863	Abnormal sternal ossification
OMIM:194190	CPLX1	10815	HP:0001290	Generalized hypotonia
OMIM:194190	CPLX1	10815	HP:0000508	Ptosis
OMIM:194190	CPLX1	10815	HP:0000902	Rib fusion
OMIM:194190	CPLX1	10815	HP:0000486	Strabismus
OMIM:194190	CPLX1	10815	HP:0000520	Proptosis
OMIM:194190	CPLX1	10815	HP:0008850	Severe postnatal growth retardation
OMIM:194190	CPLX1	10815	HP:0000384	Preauricular skin tag
OMIM:194190	CPLX1	10815	HP:0000006	Autosomal dominant inheritance
OMIM:194190	CPLX1	10815	HP:0001840	Metatarsus adductus
OMIM:194190	CPLX1	10815	HP:0000558	Rieger anomaly
OMIM:194190	CPLX1	10815	HP:0001629	Ventricular septal defect
OMIM:194190	CPLX1	10815	HP:0001511	Intrauterine growth retardation
OMIM:194190	CPLX1	10815	HP:0000252	Microcephaly
OMIM:194190	CPLX1	10815	HP:0000347	Micrognathia
OMIM:194190	CPLX1	10815	HP:0002750	Delayed skeletal maturation
OMIM:194190	CPLX1	10815	HP:0002948	Vertebral fusion
OMIM:194190	CPLX1	10815	HP:0004467	Preauricular pit
OMIM:194190	CPLX1	10815	HP:0002057	Prominent glabella
OMIM:194190	CPLX1	10815	HP:0010864	Intellectual disability, severe
OMIM:194190	CPLX1	10815	HP:0003199	Decreased muscle mass
OMIM:194190	CPLX1	10815	HP:0000348	High forehead
OMIM:194190	CPLX1	10815	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:194190	CPLX1	10815	HP:0000175	Cleft palate
OMIM:194190	CPLX1	10815	HP:0000316	Hypertelorism
OMIM:194190	CPLX1	10815	HP:0000639	Nystagmus
OMIM:194190	CPLX1	10815	HP:0000733	Stereotypy
OMIM:194190	CPLX1	10815	HP:0004484	Craniofacial asymmetry
OMIM:194190	CPLX1	10815	HP:0000444	Convex nasal ridge
OMIM:194190	CPLX1	10815	HP:0001508	Failure to thrive
OMIM:194190	CPLX1	10815	HP:0004794	Malrotation of small bowel
OMIM:194190	CTBP1	1487	HP:0002553	Highly arched eyebrow
OMIM:194190	CTBP1	1487	HP:0001331	Absent septum pellucidum
OMIM:194190	CTBP1	1487	HP:0002162	Low posterior hairline
OMIM:194190	CTBP1	1487	HP:0000188	Short upper lip
OMIM:194190	CTBP1	1487	HP:0000286	Epicanthus
OMIM:194190	CTBP1	1487	HP:0001812	Hyperconvex fingernails
OMIM:194190	CTBP1	1487	HP:0002714	Downturned corners of mouth
OMIM:194190	CTBP1	1487	HP:0006655	Rib segmentation abnormalities
OMIM:194190	CTBP1	1487	HP:0002827	Hip dislocation
OMIM:194190	CTBP1	1487	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	CTBP1	1487	HP:0001762	Talipes equinovarus
OMIM:194190	CTBP1	1487	HP:0007109	Periventricular cysts
OMIM:194190	CTBP1	1487	HP:0004322	Short stature
OMIM:194190	CTBP1	1487	HP:0000431	Wide nasal bridge
OMIM:194190	CTBP1	1487	HP:0000322	Short philtrum
OMIM:194190	CTBP1	1487	HP:0002808	Kyphosis
OMIM:194190	CTBP1	1487	HP:0002974	Radioulnar synostosis
OMIM:194190	CTBP1	1487	HP:0002119	Ventriculomegaly
OMIM:194190	CTBP1	1487	HP:0000668	Hypodontia
OMIM:194190	CTBP1	1487	HP:0001250	Seizures
OMIM:194190	CTBP1	1487	HP:0000377	Abnormality of the pinna
OMIM:194190	CTBP1	1487	HP:0009918	Ectopia pupillae
OMIM:194190	CTBP1	1487	HP:0001518	Small for gestational age
OMIM:194190	CTBP1	1487	HP:0001747	Accessory spleen
OMIM:194190	CTBP1	1487	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	CTBP1	1487	HP:0003745	Sporadic
OMIM:194190	CTBP1	1487	HP:0000204	Cleft upper lip
OMIM:194190	CTBP1	1487	HP:0001558	Decreased fetal movement
OMIM:194190	CTBP1	1487	HP:0002389	Cavum septum pellucidum
OMIM:194190	CTBP1	1487	HP:0002650	Scoliosis
OMIM:194190	CTBP1	1487	HP:0001263	Global developmental delay
OMIM:194190	CTBP1	1487	HP:0002020	Gastroesophageal reflux
OMIM:194190	CTBP1	1487	HP:0000826	Precocious puberty
OMIM:194190	CTBP1	1487	HP:0001028	Hemangioma
OMIM:194190	CTBP1	1487	HP:0011863	Abnormal sternal ossification
OMIM:194190	CTBP1	1487	HP:0001290	Generalized hypotonia
OMIM:194190	CTBP1	1487	HP:0000508	Ptosis
OMIM:194190	CTBP1	1487	HP:0000902	Rib fusion
OMIM:194190	CTBP1	1487	HP:0000486	Strabismus
OMIM:194190	CTBP1	1487	HP:0000520	Proptosis
OMIM:194190	CTBP1	1487	HP:0008850	Severe postnatal growth retardation
OMIM:194190	CTBP1	1487	HP:0000384	Preauricular skin tag
OMIM:194190	CTBP1	1487	HP:0000006	Autosomal dominant inheritance
OMIM:194190	CTBP1	1487	HP:0001840	Metatarsus adductus
OMIM:194190	CTBP1	1487	HP:0000558	Rieger anomaly
OMIM:194190	CTBP1	1487	HP:0001629	Ventricular septal defect
OMIM:194190	CTBP1	1487	HP:0001511	Intrauterine growth retardation
OMIM:194190	CTBP1	1487	HP:0000252	Microcephaly
OMIM:194190	CTBP1	1487	HP:0000347	Micrognathia
OMIM:194190	CTBP1	1487	HP:0002750	Delayed skeletal maturation
OMIM:194190	CTBP1	1487	HP:0002948	Vertebral fusion
OMIM:194190	CTBP1	1487	HP:0004467	Preauricular pit
OMIM:194190	CTBP1	1487	HP:0002057	Prominent glabella
OMIM:194190	CTBP1	1487	HP:0010864	Intellectual disability, severe
OMIM:194190	CTBP1	1487	HP:0003199	Decreased muscle mass
OMIM:194190	CTBP1	1487	HP:0000348	High forehead
OMIM:194190	CTBP1	1487	HP:0009193	Pseudoepiphyses of the metacarpals
OMIM:194190	CTBP1	1487	HP:0000175	Cleft palate
OMIM:194190	CTBP1	1487	HP:0000316	Hypertelorism
OMIM:194190	CTBP1	1487	HP:0000639	Nystagmus
OMIM:194190	CTBP1	1487	HP:0000733	Stereotypy
OMIM:194190	CTBP1	1487	HP:0004484	Craniofacial asymmetry
OMIM:194190	CTBP1	1487	HP:0000444	Convex nasal ridge
OMIM:194190	CTBP1	1487	HP:0001508	Failure to thrive
OMIM:194190	CTBP1	1487	HP:0004794	Malrotation of small bowel
OMIM:260005	OPLAH	26873	HP:0040142	5-oxoprolinase deficiency
OMIM:260005	OPLAH	26873	HP:0002013	Vomiting
OMIM:260005	OPLAH	26873	HP:0003137	Prolinuria
OMIM:260005	OPLAH	26873	HP:0000006	Autosomal dominant inheritance
OMIM:260005	OPLAH	26873	HP:0002027	Abdominal pain
OMIM:260005	OPLAH	26873	HP:0002014	Diarrhea
OMIM:260005	OPLAH	26873	HP:0000007	Autosomal recessive inheritance
OMIM:260005	OPLAH	26873	HP:0004387	Enterocolitis
OMIM:260005	OPLAH	26873	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:605074	MET	4233	HP:0000006	Autosomal dominant inheritance
OMIM:605074	MET	4233	HP:0003829	Incomplete penetrance
OMIM:605074	MET	4233	HP:0006766	Papillary renal cell carcinoma
OMIM:605074	PRCC	5546	HP:0000006	Autosomal dominant inheritance
OMIM:605074	PRCC	5546	HP:0003829	Incomplete penetrance
OMIM:605074	PRCC	5546	HP:0006766	Papillary renal cell carcinoma
ORPHA:34217	JUP	3728	HP:0000204	Cleft upper lip
ORPHA:34217	JUP	3728	HP:0000975	Hyperhidrosis
ORPHA:34217	JUP	3728	HP:0000982	Palmoplantar keratoderma
ORPHA:34217	JUP	3728	HP:0002209	Sparse scalp hair
ORPHA:34217	JUP	3728	HP:0001635	Congestive heart failure
ORPHA:34217	JUP	3728	HP:0001638	Cardiomyopathy
ORPHA:34217	JUP	3728	HP:0002212	Curly hair
ORPHA:34217	JUP	3728	HP:0002224	Woolly hair
ORPHA:34217	JUP	3728	HP:0002321	Vertigo
ORPHA:34217	JUP	3728	HP:0005141	Episodes of ventricular tachycardia
OMIM:607921	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:607921	FSCN2	25794	HP:0000505	Visual impairment
OMIM:607921	FSCN2	25794	HP:0000648	Optic atrophy
OMIM:607921	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:607921	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:607921	FSCN2	25794	HP:0000533	Chorioretinal atrophy
OMIM:607921	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:617468	LGI4	163175	HP:0001284	Areflexia
OMIM:617468	LGI4	163175	HP:0006659	Internally rotated shoulders
OMIM:617468	LGI4	163175	HP:0012385	Camptodactyly
OMIM:617468	LGI4	163175	HP:0000508	Ptosis
OMIM:617468	LGI4	163175	HP:0001989	Fetal akinesia sequence
OMIM:617468	LGI4	163175	HP:0000218	High palate
OMIM:617468	LGI4	163175	HP:0000565	Esotropia
OMIM:617468	LGI4	163175	HP:0001290	Generalized hypotonia
OMIM:617468	LGI4	163175	HP:0002987	Elbow flexion contracture
OMIM:617468	LGI4	163175	HP:0000278	Retrognathia
OMIM:617468	LGI4	163175	HP:0003691	Scapular winging
OMIM:617468	LGI4	163175	HP:0005684	Distal arthrogryposis
OMIM:617468	LGI4	163175	HP:0001762	Talipes equinovarus
OMIM:617468	LGI4	163175	HP:0002804	Arthrogryposis multiplex congenita
OMIM:617468	LGI4	163175	HP:0000007	Autosomal recessive inheritance
OMIM:617468	LGI4	163175	HP:0003273	Hip contracture
OMIM:617468	LGI4	163175	HP:0006380	Knee flexion contracture
OMIM:617468	LGI4	163175	HP:0000411	Protruding ear
OMIM:617468	LGI4	163175	HP:0002421	Poor head control
OMIM:617468	LGI4	163175	HP:0000341	Narrow forehead
OMIM:617468	LGI4	163175	HP:0000347	Micrognathia
OMIM:617468	LGI4	163175	HP:0003577	Congenital onset
OMIM:617468	LGI4	163175	HP:0006466	Ankle contracture
OMIM:617468	LGI4	163175	HP:0000678	Dental crowding
ORPHA:79314	L2HGDH	79944	HP:0002383	Encephalitis
ORPHA:79314	L2HGDH	79944	HP:0001250	Seizures
ORPHA:79314	L2HGDH	79944	HP:0000708	Behavioral abnormality
ORPHA:79314	L2HGDH	79944	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:79314	L2HGDH	79944	HP:0004375	Neoplasm of the nervous system
ORPHA:79314	L2HGDH	79944	HP:0000256	Macrocephaly
ORPHA:79314	L2HGDH	79944	HP:0006887	Intellectual disability, progressive
ORPHA:79314	L2HGDH	79944	HP:0001285	Spastic tetraparesis
ORPHA:79314	L2HGDH	79944	HP:0001252	Muscular hypotonia
ORPHA:79314	L2HGDH	79944	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:79314	L2HGDH	79944	HP:0010864	Intellectual disability, severe
OMIM:119580	CDH1	999	HP:0007651	Ectropion of lower eyelids
OMIM:119580	CDH1	999	HP:0001792	Small nail
OMIM:119580	CDH1	999	HP:0009743	Distichiasis
OMIM:119580	CDH1	999	HP:0000204	Cleft upper lip
OMIM:119580	CDH1	999	HP:0000668	Hypodontia
OMIM:119580	CDH1	999	HP:0000006	Autosomal dominant inheritance
OMIM:119580	CDH1	999	HP:0030084	Clinodactyly
OMIM:119580	CDH1	999	HP:0000698	Conical tooth
OMIM:119580	CDH1	999	HP:0000316	Hypertelorism
OMIM:613038	POU1F1	5449	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	POU1F1	5449	HP:0000821	Hypothyroidism
OMIM:613038	POU1F1	5449	HP:0002007	Frontal bossing
OMIM:613038	POU1F1	5449	HP:0011800	Midface retrusion
OMIM:613038	POU1F1	5449	HP:0000006	Autosomal dominant inheritance
OMIM:613038	POU1F1	5449	HP:0000007	Autosomal recessive inheritance
OMIM:613038	POU1F1	5449	HP:0000158	Macroglossia
OMIM:613038	POU1F1	5449	HP:0000270	Delayed cranial suture closure
OMIM:613038	POU1F1	5449	HP:0000463	Anteverted nares
OMIM:613038	POU1F1	5449	HP:0000272	Malar flattening
OMIM:613038	POU1F1	5449	HP:0004322	Short stature
OMIM:613038	POU1F1	5449	HP:0001290	Generalized hypotonia
OMIM:613038	POU1F1	5449	HP:0001249	Intellectual disability
OMIM:613038	POU1F1	5449	HP:0005280	Depressed nasal bridge
OMIM:613038	POU1F1	5449	HP:0008850	Severe postnatal growth retardation
OMIM:613038	POU1F1	5449	HP:0011220	Prominent forehead
OMIM:613038	POU1F1	5449	HP:0000490	Deeply set eye
OMIM:613038	POU1F1	5449	HP:0003196	Short nose
OMIM:200600	TRIP11	9321	HP:0003175	Hypoplastic ischia
OMIM:200600	TRIP11	9321	HP:0000882	Hypoplastic scapulae
OMIM:200600	TRIP11	9321	HP:0000916	Broad clavicles
OMIM:200600	TRIP11	9321	HP:0006489	Abnormality of the femoral metaphysis
OMIM:200600	TRIP11	9321	HP:0000923	Beaded ribs
OMIM:200600	TRIP11	9321	HP:0005280	Depressed nasal bridge
OMIM:200600	TRIP11	9321	HP:0003826	Stillbirth
OMIM:200600	TRIP11	9321	HP:0004331	Decreased skull ossification
OMIM:200600	TRIP11	9321	HP:0000463	Anteverted nares
OMIM:200600	TRIP11	9321	HP:0004606	Unossified vertebral bodies
OMIM:200600	TRIP11	9321	HP:0010675	Abnormal foot bone ossification
OMIM:200600	TRIP11	9321	HP:0001789	Hydrops fetalis
OMIM:200600	TRIP11	9321	HP:0003521	Disproportionate short-trunk short stature
OMIM:200600	TRIP11	9321	HP:0000007	Autosomal recessive inheritance
OMIM:200600	TRIP11	9321	HP:0000470	Short neck
OMIM:200600	TRIP11	9321	HP:0003196	Short nose
OMIM:200600	TRIP11	9321	HP:0010660	Abnormal hand bone ossification
OMIM:200600	TRIP11	9321	HP:0002984	Hypoplasia of the radius
OMIM:200600	TRIP11	9321	HP:0000773	Short ribs
OMIM:200600	TRIP11	9321	HP:0001561	Polyhydramnios
OMIM:200600	TRIP11	9321	HP:0000894	Short clavicles
OMIM:200600	TRIP11	9321	HP:0002983	Micromelia
OMIM:200600	TRIP11	9321	HP:0001538	Protuberant abdomen
OMIM:200600	TRIP11	9321	HP:0001552	Barrel-shaped chest
OMIM:614102	IGKC	3514	HP:0000007	Autosomal recessive inheritance
OMIM:614102	IGKC	3514	HP:0010701	Abnormal immunoglobulin level
OMIM:613625	MCFD2	90411	HP:0000421	Epistaxis
OMIM:613625	MCFD2	90411	HP:0001934	Persistent bleeding after trauma
OMIM:613625	MCFD2	90411	HP:0003225	Reduced factor V activity
OMIM:613625	MCFD2	90411	HP:0000007	Autosomal recessive inheritance
OMIM:613625	MCFD2	90411	HP:0003125	Reduced factor VIII activity
OMIM:613625	MCFD2	90411	HP:0000132	Menorrhagia
OMIM:603622	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYH9	4627	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYH9	4627	HP:0003621	Juvenile onset
OMIM:614204	IL36RN	26525	HP:0200039	Pustule
OMIM:614204	IL36RN	26525	HP:0003765	Psoriasiform dermatitis
OMIM:614204	IL36RN	26525	HP:0025092	Epidermal acanthosis
OMIM:614204	IL36RN	26525	HP:0001036	Parakeratosis
OMIM:614204	IL36RN	26525	HP:0001945	Fever
OMIM:614204	IL36RN	26525	HP:0010783	Erythema
OMIM:614204	IL36RN	26525	HP:0000007	Autosomal recessive inheritance
ORPHA:280785	KIT	3815	HP:0001019	Erythroderma
ORPHA:280785	KIT	3815	HP:0200151	Cutaneous mastocytosis
ORPHA:280785	KIT	3815	HP:0005587	Profuse pigmented skin lesions
ORPHA:280785	KIT	3815	HP:0001025	Urticaria
ORPHA:280785	KIT	3815	HP:0000989	Pruritus
ORPHA:280785	KIT	3815	HP:0008066	Abnormal blistering of the skin
OMIM:219500	CTH	1491	HP:0000007	Autosomal recessive inheritance
OMIM:219500	CTH	1491	HP:0003153	Cystathioninuria
OMIM:615412	TUBG1	7283	HP:0001263	Global developmental delay
OMIM:615412	TUBG1	7283	HP:0001250	Seizures
OMIM:615412	TUBG1	7283	HP:0002539	Cortical dysplasia
OMIM:615412	TUBG1	7283	HP:0003828	Variable expressivity
OMIM:615412	TUBG1	7283	HP:0000006	Autosomal dominant inheritance
OMIM:615412	TUBG1	7283	HP:0000252	Microcephaly
OMIM:616263	PTRH2	51651	HP:0000821	Hypothyroidism
OMIM:616263	PTRH2	51651	HP:0000248	Brachycephaly
OMIM:616263	PTRH2	51651	HP:0001290	Generalized hypotonia
OMIM:616263	PTRH2	51651	HP:0000253	Progressive microcephaly
OMIM:616263	PTRH2	51651	HP:0002460	Distal muscle weakness
OMIM:616263	PTRH2	51651	HP:0001251	Ataxia
OMIM:616263	PTRH2	51651	HP:0003577	Congenital onset
OMIM:616263	PTRH2	51651	HP:0000049	Shawl scrotum
OMIM:616263	PTRH2	51651	HP:0000407	Sensorineural hearing impairment
OMIM:616263	PTRH2	51651	HP:0011800	Midface retrusion
OMIM:616263	PTRH2	51651	HP:0000007	Autosomal recessive inheritance
OMIM:616263	PTRH2	51651	HP:0100732	Pancreatic fibrosis
OMIM:616263	PTRH2	51651	HP:0001508	Failure to thrive
OMIM:616263	PTRH2	51651	HP:0000316	Hypertelorism
OMIM:616263	PTRH2	51651	HP:0004322	Short stature
OMIM:616263	PTRH2	51651	HP:0000252	Microcephaly
OMIM:616263	PTRH2	51651	HP:0009623	Proximal placement of thumb
OMIM:616263	PTRH2	51651	HP:0001249	Intellectual disability
OMIM:616263	PTRH2	51651	HP:0002570	Steatorrhea
OMIM:616263	PTRH2	51651	HP:0003676	Progressive
OMIM:616263	PTRH2	51651	HP:0002240	Hepatomegaly
OMIM:616263	PTRH2	51651	HP:0002827	Hip dislocation
OMIM:616263	PTRH2	51651	HP:0001762	Talipes equinovarus
OMIM:616263	PTRH2	51651	HP:0001263	Global developmental delay
OMIM:616263	PTRH2	51651	HP:0000219	Thin upper lip vermilion
OMIM:616263	PTRH2	51651	HP:0000577	Exotropia
OMIM:616263	PTRH2	51651	HP:0001272	Cerebellar atrophy
OMIM:616263	PTRH2	51651	HP:0001395	Hepatic fibrosis
OMIM:156400	PTH1R	5745	HP:0003072	Hypercalcemia
OMIM:156400	PTH1R	5745	HP:0003510	Severe short stature
OMIM:156400	PTH1R	5745	HP:0000938	Osteopenia
OMIM:156400	PTH1R	5745	HP:0003109	Hyperphosphaturia
OMIM:156400	PTH1R	5745	HP:0005871	Metaphyseal chondrodysplasia
OMIM:156400	PTH1R	5745	HP:0000006	Autosomal dominant inheritance
OMIM:156400	PTH1R	5745	HP:0006487	Bowing of the long bones
OMIM:156400	PTH1R	5745	HP:0004676	Prominent supraorbital arches in adult
OMIM:156400	PTH1R	5745	HP:0003155	Elevated alkaline phosphatase
OMIM:156400	PTH1R	5745	HP:0000520	Proptosis
OMIM:156400	PTH1R	5745	HP:0000347	Micrognathia
OMIM:156400	PTH1R	5745	HP:0000692	Misalignment of teeth
OMIM:156400	PTH1R	5745	HP:0000316	Hypertelorism
OMIM:156400	PTH1R	5745	HP:0003026	Short long bone
OMIM:156400	PTH1R	5745	HP:0000829	Hypoparathyroidism
OMIM:156400	PTH1R	5745	HP:0002756	Pathologic fracture
OMIM:156400	PTH1R	5745	HP:0000773	Short ribs
OMIM:156400	PTH1R	5745	HP:0002148	Hypophosphatemia
OMIM:156400	PTH1R	5745	HP:0000248	Brachycephaly
OMIM:156400	PTH1R	5745	HP:0000452	Choanal stenosis
OMIM:156400	PTH1R	5745	HP:0002150	Hypercalciuria
OMIM:156400	PTH1R	5745	HP:0004209	Clinodactyly of the 5th finger
OMIM:156400	PTH1R	5745	HP:0000453	Choanal atresia
OMIM:156400	PTH1R	5745	HP:0003273	Hip contracture
OMIM:156400	PTH1R	5745	HP:0100759	Clubbing of fingers
OMIM:156400	PTH1R	5745	HP:0000121	Nephrocalcinosis
OMIM:156400	PTH1R	5745	HP:0002737	Thick skull base
OMIM:156400	PTH1R	5745	HP:0003021	Metaphyseal cupping
OMIM:156400	PTH1R	5745	HP:0000365	Hearing impairment
OMIM:156400	PTH1R	5745	HP:0002515	Waddling gait
OMIM:156400	PTH1R	5745	HP:0006380	Knee flexion contracture
ORPHA:528	FOS	2353	HP:0012062	Bone cyst
ORPHA:528	FOS	2353	HP:0001000	Abnormality of skin pigmentation
ORPHA:528	FOS	2353	HP:0000303	Mandibular prognathia
ORPHA:528	FOS	2353	HP:0000855	Insulin resistance
ORPHA:528	FOS	2353	HP:0001769	Broad foot
ORPHA:528	FOS	2353	HP:0000826	Precocious puberty
ORPHA:528	FOS	2353	HP:0000842	Hyperinsulinemia
ORPHA:528	FOS	2353	HP:0000956	Acanthosis nigricans
ORPHA:528	FOS	2353	HP:0100578	Lipoatrophy
ORPHA:528	FOS	2353	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:528	FOS	2353	HP:0000819	Diabetes mellitus
ORPHA:528	FOS	2353	HP:0002240	Hepatomegaly
ORPHA:528	FOS	2353	HP:0005616	Accelerated skeletal maturation
ORPHA:528	FOS	2353	HP:0002155	Hypertriglyceridemia
ORPHA:528	FOS	2353	HP:0003712	Skeletal muscle hypertrophy
ORPHA:528	FOS	2353	HP:0002230	Generalized hirsutism
ORPHA:528	FOS	2353	HP:0000975	Hyperhidrosis
ORPHA:528	FOS	2353	HP:0001249	Intellectual disability
ORPHA:528	FOS	2353	HP:0000336	Prominent supraorbital ridges
ORPHA:528	FOS	2353	HP:0001399	Hepatic failure
ORPHA:528	FOS	2353	HP:0000845	Growth hormone excess
ORPHA:528	FOS	2353	HP:0001176	Large hands
ORPHA:528	BSCL2	26580	HP:0012062	Bone cyst
ORPHA:528	BSCL2	26580	HP:0001000	Abnormality of skin pigmentation
ORPHA:528	BSCL2	26580	HP:0000303	Mandibular prognathia
ORPHA:528	BSCL2	26580	HP:0000855	Insulin resistance
ORPHA:528	BSCL2	26580	HP:0001769	Broad foot
ORPHA:528	BSCL2	26580	HP:0000826	Precocious puberty
ORPHA:528	BSCL2	26580	HP:0000842	Hyperinsulinemia
ORPHA:528	BSCL2	26580	HP:0000956	Acanthosis nigricans
ORPHA:528	BSCL2	26580	HP:0100578	Lipoatrophy
ORPHA:528	BSCL2	26580	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:528	BSCL2	26580	HP:0000819	Diabetes mellitus
ORPHA:528	BSCL2	26580	HP:0002240	Hepatomegaly
ORPHA:528	BSCL2	26580	HP:0005616	Accelerated skeletal maturation
ORPHA:528	BSCL2	26580	HP:0002155	Hypertriglyceridemia
ORPHA:528	BSCL2	26580	HP:0003712	Skeletal muscle hypertrophy
ORPHA:528	BSCL2	26580	HP:0002230	Generalized hirsutism
ORPHA:528	BSCL2	26580	HP:0000975	Hyperhidrosis
ORPHA:528	BSCL2	26580	HP:0001249	Intellectual disability
ORPHA:528	BSCL2	26580	HP:0000336	Prominent supraorbital ridges
ORPHA:528	BSCL2	26580	HP:0001399	Hepatic failure
ORPHA:528	BSCL2	26580	HP:0000845	Growth hormone excess
ORPHA:528	BSCL2	26580	HP:0001176	Large hands
ORPHA:528	CAV1	857	HP:0012062	Bone cyst
ORPHA:528	CAV1	857	HP:0001000	Abnormality of skin pigmentation
ORPHA:528	CAV1	857	HP:0000303	Mandibular prognathia
ORPHA:528	CAV1	857	HP:0000855	Insulin resistance
ORPHA:528	CAV1	857	HP:0001769	Broad foot
ORPHA:528	CAV1	857	HP:0000826	Precocious puberty
ORPHA:528	CAV1	857	HP:0000842	Hyperinsulinemia
ORPHA:528	CAV1	857	HP:0000956	Acanthosis nigricans
ORPHA:528	CAV1	857	HP:0100578	Lipoatrophy
ORPHA:528	CAV1	857	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:528	CAV1	857	HP:0000819	Diabetes mellitus
ORPHA:528	CAV1	857	HP:0002240	Hepatomegaly
ORPHA:528	CAV1	857	HP:0005616	Accelerated skeletal maturation
ORPHA:528	CAV1	857	HP:0002155	Hypertriglyceridemia
ORPHA:528	CAV1	857	HP:0003712	Skeletal muscle hypertrophy
ORPHA:528	CAV1	857	HP:0002230	Generalized hirsutism
ORPHA:528	CAV1	857	HP:0000975	Hyperhidrosis
ORPHA:528	CAV1	857	HP:0001249	Intellectual disability
ORPHA:528	CAV1	857	HP:0000336	Prominent supraorbital ridges
ORPHA:528	CAV1	857	HP:0001399	Hepatic failure
ORPHA:528	CAV1	857	HP:0000845	Growth hormone excess
ORPHA:528	CAV1	857	HP:0001176	Large hands
ORPHA:528	AGPAT2	10555	HP:0012062	Bone cyst
ORPHA:528	AGPAT2	10555	HP:0001000	Abnormality of skin pigmentation
ORPHA:528	AGPAT2	10555	HP:0000303	Mandibular prognathia
ORPHA:528	AGPAT2	10555	HP:0000855	Insulin resistance
ORPHA:528	AGPAT2	10555	HP:0001769	Broad foot
ORPHA:528	AGPAT2	10555	HP:0000826	Precocious puberty
ORPHA:528	AGPAT2	10555	HP:0000842	Hyperinsulinemia
ORPHA:528	AGPAT2	10555	HP:0000956	Acanthosis nigricans
ORPHA:528	AGPAT2	10555	HP:0100578	Lipoatrophy
ORPHA:528	AGPAT2	10555	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:528	AGPAT2	10555	HP:0000819	Diabetes mellitus
ORPHA:528	AGPAT2	10555	HP:0002240	Hepatomegaly
ORPHA:528	AGPAT2	10555	HP:0005616	Accelerated skeletal maturation
ORPHA:528	AGPAT2	10555	HP:0002155	Hypertriglyceridemia
ORPHA:528	AGPAT2	10555	HP:0003712	Skeletal muscle hypertrophy
ORPHA:528	AGPAT2	10555	HP:0002230	Generalized hirsutism
ORPHA:528	AGPAT2	10555	HP:0000975	Hyperhidrosis
ORPHA:528	AGPAT2	10555	HP:0001249	Intellectual disability
ORPHA:528	AGPAT2	10555	HP:0000336	Prominent supraorbital ridges
ORPHA:528	AGPAT2	10555	HP:0001399	Hepatic failure
ORPHA:528	AGPAT2	10555	HP:0000845	Growth hormone excess
ORPHA:528	AGPAT2	10555	HP:0001176	Large hands
ORPHA:528	PPARG	5468	HP:0012062	Bone cyst
ORPHA:528	PPARG	5468	HP:0001000	Abnormality of skin pigmentation
ORPHA:528	PPARG	5468	HP:0000303	Mandibular prognathia
ORPHA:528	PPARG	5468	HP:0000855	Insulin resistance
ORPHA:528	PPARG	5468	HP:0001769	Broad foot
ORPHA:528	PPARG	5468	HP:0000826	Precocious puberty
ORPHA:528	PPARG	5468	HP:0000842	Hyperinsulinemia
ORPHA:528	PPARG	5468	HP:0000956	Acanthosis nigricans
ORPHA:528	PPARG	5468	HP:0100578	Lipoatrophy
ORPHA:528	PPARG	5468	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:528	PPARG	5468	HP:0000819	Diabetes mellitus
ORPHA:528	PPARG	5468	HP:0002240	Hepatomegaly
ORPHA:528	PPARG	5468	HP:0005616	Accelerated skeletal maturation
ORPHA:528	PPARG	5468	HP:0002155	Hypertriglyceridemia
ORPHA:528	PPARG	5468	HP:0003712	Skeletal muscle hypertrophy
ORPHA:528	PPARG	5468	HP:0002230	Generalized hirsutism
ORPHA:528	PPARG	5468	HP:0000975	Hyperhidrosis
ORPHA:528	PPARG	5468	HP:0001249	Intellectual disability
ORPHA:528	PPARG	5468	HP:0000336	Prominent supraorbital ridges
ORPHA:528	PPARG	5468	HP:0001399	Hepatic failure
ORPHA:528	PPARG	5468	HP:0000845	Growth hormone excess
ORPHA:528	PPARG	5468	HP:0001176	Large hands
OMIM:616617	PEX6	5190	HP:0001763	Pes planus
OMIM:616617	PEX6	5190	HP:0000678	Dental crowding
OMIM:616617	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:616617	PEX6	5190	HP:0001820	Leukonychia
OMIM:259600	MMP2	4313	HP:0001072	Thickened skin
OMIM:259600	MMP2	4313	HP:0001473	Metatarsal osteolysis
OMIM:259600	MMP2	4313	HP:0002829	Arthralgia
OMIM:259600	MMP2	4313	HP:0002007	Frontal bossing
OMIM:259600	MMP2	4313	HP:0003273	Hip contracture
OMIM:259600	MMP2	4313	HP:0000280	Coarse facial features
OMIM:259600	MMP2	4313	HP:0001763	Pes planus
OMIM:259600	MMP2	4313	HP:0000446	Narrow nasal bridge
OMIM:259600	MMP2	4313	HP:0008011	Peripheral opacification of the cornea
OMIM:259600	MMP2	4313	HP:0001288	Gait disturbance
OMIM:259600	MMP2	4313	HP:0001034	Hypermelanotic macule
OMIM:259600	MMP2	4313	HP:0001495	Carpal osteolysis
OMIM:259600	MMP2	4313	HP:0001171	Split hand
OMIM:259600	MMP2	4313	HP:0001220	Interphalangeal joint contracture of finger
OMIM:259600	MMP2	4313	HP:0004322	Short stature
OMIM:259600	MMP2	4313	HP:0000347	Micrognathia
OMIM:259600	MMP2	4313	HP:0006466	Ankle contracture
OMIM:259600	MMP2	4313	HP:0000938	Osteopenia
OMIM:259600	MMP2	4313	HP:0000520	Proptosis
OMIM:259600	MMP2	4313	HP:0001504	Metacarpal osteolysis
OMIM:259600	MMP2	4313	HP:0003493	Antinuclear antibody positivity
OMIM:259600	MMP2	4313	HP:0006086	Thin metacarpal cortices
OMIM:259600	MMP2	4313	HP:0003621	Juvenile onset
OMIM:259600	MMP2	4313	HP:0001783	Broad metatarsal
OMIM:259600	MMP2	4313	HP:0001476	Delayed closure of the anterior fontanelle
OMIM:259600	MMP2	4313	HP:0008090	Ankylosis of feet small joints
OMIM:259600	MMP2	4313	HP:0003593	Infantile onset
OMIM:259600	MMP2	4313	HP:0006234	Osteolysis involving tarsal bones
OMIM:259600	MMP2	4313	HP:0001836	Camptodactyly of toe
OMIM:259600	MMP2	4313	HP:0000316	Hypertelorism
OMIM:259600	MMP2	4313	HP:0008133	Distal tapering of metatarsals
OMIM:259600	MMP2	4313	HP:0003179	Protrusio acetabuli
OMIM:259600	MMP2	4313	HP:0001007	Hirsutism
OMIM:259600	MMP2	4313	HP:0000007	Autosomal recessive inheritance
OMIM:259600	MMP2	4313	HP:0000765	Abnormality of the thorax
OMIM:259600	MMP2	4313	HP:0000684	Delayed eruption of teeth
OMIM:259600	MMP2	4313	HP:0002953	Vertebral compression fractures
OMIM:259600	MMP2	4313	HP:0001482	Subcutaneous nodule
OMIM:259600	MMP2	4313	HP:0008078	Thin metatarsal cortices
OMIM:259600	MMP2	4313	HP:0000939	Osteoporosis
OMIM:259600	MMP2	4313	HP:0000248	Brachycephaly
OMIM:259600	MMP2	4313	HP:0003016	Metaphyseal widening
OMIM:259600	MMP2	4313	HP:0000414	Bulbous nose
OMIM:259600	MMP2	4313	HP:0000327	Hypoplasia of the maxilla
OMIM:259600	MMP2	4313	HP:0002751	Kyphoscoliosis
OMIM:259600	MMP2	4313	HP:0005441	Sclerotic cranial sutures
OMIM:259600	MMP2	4313	HP:0006012	Widened metacarpal shaft
OMIM:259600	MMP2	4313	HP:0003320	C1-C2 subluxation
OMIM:259600	MMP2	4313	HP:0006252	Interphalangeal joint erosions
OMIM:259600	MMP2	4313	HP:0001239	Wrist flexion contracture
OMIM:259600	MMP2	4313	HP:0000212	Gingival overgrowth
OMIM:259600	MMP2	4313	HP:0000598	Abnormality of the ear
OMIM:259600	MMP2	4313	HP:0001761	Pes cavus
OMIM:613954	VCP	7415	HP:0001260	Dysarthria
OMIM:613954	VCP	7415	HP:0001324	Muscle weakness
OMIM:613954	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:613954	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:613954	VCP	7415	HP:0002380	Fasciculations
ORPHA:93311	MATN3	4148	HP:0002758	Osteoarthritis
ORPHA:93311	MATN3	4148	HP:0002829	Arthralgia
ORPHA:93311	MATN3	4148	HP:0001387	Joint stiffness
ORPHA:93311	MATN3	4148	HP:0002656	Epiphyseal dysplasia
ORPHA:93311	MATN3	4148	HP:0001385	Hip dysplasia
ORPHA:93311	MATN3	4148	HP:0001288	Gait disturbance
OMIM:203290	TYRP1	7306	HP:0002297	Red hair
OMIM:203290	TYRP1	7306	HP:0007443	Partial albinism
OMIM:203290	TYRP1	7306	HP:0000639	Nystagmus
OMIM:203290	TYRP1	7306	HP:0000486	Strabismus
OMIM:203290	TYRP1	7306	HP:0001022	Albinism
OMIM:203290	TYRP1	7306	HP:0000007	Autosomal recessive inheritance
ORPHA:65288	PTF1A	256297	HP:0000857	Neonatal insulin-dependent diabetes mellitus
ORPHA:65288	PTF1A	256297	HP:0000609	Optic nerve hypoplasia
ORPHA:65288	PTF1A	256297	HP:0000331	Short chin
ORPHA:65288	PTF1A	256297	HP:0001321	Cerebellar hypoplasia
ORPHA:65288	PTF1A	256297	HP:0000325	Triangular face
ORPHA:65288	PTF1A	256297	HP:0100800	Aplasia/Hypoplasia of the pancreas
ORPHA:65288	PTF1A	256297	HP:0000369	Low-set ears
OMIM:302350	NHS	4810	HP:0000501	Glaucoma
OMIM:302350	NHS	4810	HP:0000568	Microphthalmia
OMIM:302350	NHS	4810	HP:0000639	Nystagmus
OMIM:302350	NHS	4810	HP:0001423	X-linked dominant inheritance
OMIM:302350	NHS	4810	HP:0000448	Prominent nose
OMIM:302350	NHS	4810	HP:0009803	Short phalanx of finger
OMIM:302350	NHS	4810	HP:0000276	Long face
OMIM:302350	NHS	4810	HP:0000519	Congenital cataract
OMIM:302350	NHS	4810	HP:0006346	Screwdriver-shaped incisors
OMIM:302350	NHS	4810	HP:0000482	Microcornea
OMIM:302350	NHS	4810	HP:0001500	Broad finger
OMIM:302350	NHS	4810	HP:0000400	Macrotia
OMIM:302350	NHS	4810	HP:0000699	Diastema
OMIM:302350	NHS	4810	HP:0000572	Visual loss
OMIM:302350	NHS	4810	HP:0000426	Prominent nasal bridge
OMIM:302350	NHS	4810	HP:0000717	Autism
OMIM:302350	NHS	4810	HP:0006332	Supernumerary maxillary incisor
OMIM:302350	NHS	4810	HP:0008031	Posterior Y-sutural cataract
OMIM:302350	NHS	4810	HP:0000275	Narrow face
OMIM:208250	PRG4	10216	HP:0001239	Wrist flexion contracture
OMIM:208250	PRG4	10216	HP:0011909	Flattened metacarpal heads
OMIM:208250	PRG4	10216	HP:0002563	Constrictive pericarditis
OMIM:208250	PRG4	10216	HP:0005879	Congenital finger flexion contractures
OMIM:208250	PRG4	10216	HP:0002812	Coxa vara
OMIM:208250	PRG4	10216	HP:0000007	Autosomal recessive inheritance
OMIM:208250	PRG4	10216	HP:0005197	Generalized morning stiffness
OMIM:208250	PRG4	10216	HP:0003040	Arthropathy
OMIM:208250	PRG4	10216	HP:0005186	Synovial hypertrophy
OMIM:208250	PRG4	10216	HP:0001369	Arthritis
OMIM:208250	PRG4	10216	HP:0005194	Flattened metatarsal heads
OMIM:617187	SUN5	140732	HP:0012869	Acephalic spermatozoa
OMIM:617187	SUN5	140732	HP:0012207	Reduced sperm motility
OMIM:617187	SUN5	140732	HP:0000007	Autosomal recessive inheritance
OMIM:617187	SUN5	140732	HP:0000789	Infertility
OMIM:602485	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:602485	GCK	2645	HP:0001325	Hypoglycemic coma
OMIM:602485	GCK	2645	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:602485	GCK	2645	HP:0001249	Intellectual disability
OMIM:602485	GCK	2645	HP:0002173	Hypoglycemic seizures
OMIM:602485	GCK	2645	HP:0000819	Diabetes mellitus
OMIM:602485	GCK	2645	HP:0001425	Heterogeneous
ORPHA:2473	MKKS	8195	HP:0030010	Hydrometrocolpos
ORPHA:2473	MKKS	8195	HP:0001162	Postaxial hand polydactyly
ORPHA:2473	MKKS	8195	HP:0000126	Hydronephrosis
ORPHA:2473	MKKS	8195	HP:0000028	Cryptorchidism
ORPHA:2473	MKKS	8195	HP:0000807	Glandular hypospadias
ORPHA:2473	MKKS	8195	HP:0100779	Urogenital sinus anomaly
OMIM:105150	CST3	1471	HP:0000726	Dementia
OMIM:105150	CST3	1471	HP:0002170	Intracranial hemorrhage
OMIM:105150	CST3	1471	HP:0000006	Autosomal dominant inheritance
OMIM:105150	CST3	1471	HP:0003216	Generalized amyloid deposition
OMIM:105150	CST3	1471	HP:0001297	Stroke
OMIM:105150	CST3	1471	HP:0001342	Cerebral hemorrhage
OMIM:608800	TSPYL1	7259	HP:0001662	Bradycardia
OMIM:608800	TSPYL1	7259	HP:0006543	Cardiorespiratory arrest
OMIM:608800	TSPYL1	7259	HP:0025428	Bronchospasm
OMIM:608800	TSPYL1	7259	HP:0008872	Feeding difficulties in infancy
OMIM:608800	TSPYL1	7259	HP:0000478	Abnormality of the eye
OMIM:608800	TSPYL1	7259	HP:0025425	Laryngospasm
OMIM:608800	TSPYL1	7259	HP:0025431	Staccato cry
OMIM:608800	TSPYL1	7259	HP:0010307	Stridor
OMIM:608800	TSPYL1	7259	HP:0002020	Gastroesophageal reflux
OMIM:608800	TSPYL1	7259	HP:0001308	Tongue fasciculations
OMIM:608800	TSPYL1	7259	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608800	TSPYL1	7259	HP:0008733	Dysplastic testes
OMIM:608800	TSPYL1	7259	HP:0000007	Autosomal recessive inheritance
OMIM:608800	TSPYL1	7259	HP:0002104	Apnea
OMIM:608800	TSPYL1	7259	HP:0000033	Ambiguous genitalia, male
OMIM:608800	TSPYL1	7259	HP:0008708	Partial development of the penile shaft
OMIM:608800	TSPYL1	7259	HP:0000028	Cryptorchidism
OMIM:608800	TSPYL1	7259	HP:0001510	Growth delay
OMIM:608800	TSPYL1	7259	HP:0008715	Testicular dysgenesis
ORPHA:435938	RPL10	6134	HP:0012385	Camptodactyly
ORPHA:435938	RPL10	6134	HP:0006380	Knee flexion contracture
ORPHA:435938	RPL10	6134	HP:0001252	Muscular hypotonia
ORPHA:435938	RPL10	6134	HP:0000407	Sensorineural hearing impairment
ORPHA:435938	RPL10	6134	HP:0000411	Protruding ear
ORPHA:435938	RPL10	6134	HP:0002719	Recurrent infections
ORPHA:435938	RPL10	6134	HP:0006101	Finger syndactyly
ORPHA:435938	RPL10	6134	HP:0009796	Branchial cyst
ORPHA:435938	RPL10	6134	HP:0000252	Microcephaly
ORPHA:435938	RPL10	6134	HP:0000954	Single transverse palmar crease
ORPHA:435938	RPL10	6134	HP:0001182	Tapered finger
ORPHA:435938	RPL10	6134	HP:0001250	Seizures
ORPHA:435938	RPL10	6134	HP:0000303	Mandibular prognathia
ORPHA:435938	RPL10	6134	HP:0000028	Cryptorchidism
ORPHA:435938	RPL10	6134	HP:0008850	Severe postnatal growth retardation
ORPHA:435938	RPL10	6134	HP:0001601	Laryngomalacia
ORPHA:435938	RPL10	6134	HP:0002020	Gastroesophageal reflux
ORPHA:435938	RPL10	6134	HP:0000219	Thin upper lip vermilion
ORPHA:435938	RPL10	6134	HP:0000678	Dental crowding
ORPHA:435938	RPL10	6134	HP:0001999	Abnormal facial shape
ORPHA:435938	RPL10	6134	HP:0006466	Ankle contracture
ORPHA:435938	RPL10	6134	HP:0004415	Pulmonary artery stenosis
ORPHA:435938	RPL10	6134	HP:0100716	Self-injurious behavior
ORPHA:435938	RPL10	6134	HP:0000047	Hypospadias
ORPHA:435938	RPL10	6134	HP:0012033	Sacral lipoma
OMIM:612781	GH1	2688	HP:0002750	Delayed skeletal maturation
OMIM:612781	GH1	2688	HP:0004322	Short stature
OMIM:612781	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:612781	GH1	2688	HP:0000824	Growth hormone deficiency
OMIM:612781	GHRHR	2692	HP:0002750	Delayed skeletal maturation
OMIM:612781	GHRHR	2692	HP:0004322	Short stature
OMIM:612781	GHRHR	2692	HP:0000007	Autosomal recessive inheritance
OMIM:612781	GHRHR	2692	HP:0000824	Growth hormone deficiency
ORPHA:95712	PAX8	7849	HP:0000952	Jaundice
ORPHA:95712	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHA:95712	PAX8	7849	HP:0004322	Short stature
ORPHA:95712	PAX8	7849	HP:0010864	Intellectual disability, severe
ORPHA:95712	PAX8	7849	HP:0001537	Umbilical hernia
ORPHA:95712	PAX8	7849	HP:0000821	Hypothyroidism
ORPHA:95712	PAX8	7849	HP:0002019	Constipation
ORPHA:95712	PAX8	7849	HP:0000280	Coarse facial features
ORPHA:95712	PAX8	7849	HP:0001324	Muscle weakness
ORPHA:95712	PAX8	7849	HP:0000158	Macroglossia
ORPHA:95712	PAX8	7849	HP:0100786	Hypersomnia
ORPHA:95712	PAX8	7849	HP:0003270	Abdominal distention
ORPHA:95712	PAX8	7849	HP:0100028	Ectopic thyroid
ORPHA:95712	PAX8	7849	HP:0001263	Global developmental delay
ORPHA:95712	PAX8	7849	HP:0000239	Large fontanelles
ORPHA:95712	NKX2-5	1482	HP:0000952	Jaundice
ORPHA:95712	NKX2-5	1482	HP:0001252	Muscular hypotonia
ORPHA:95712	NKX2-5	1482	HP:0004322	Short stature
ORPHA:95712	NKX2-5	1482	HP:0010864	Intellectual disability, severe
ORPHA:95712	NKX2-5	1482	HP:0001537	Umbilical hernia
ORPHA:95712	NKX2-5	1482	HP:0000821	Hypothyroidism
ORPHA:95712	NKX2-5	1482	HP:0002019	Constipation
ORPHA:95712	NKX2-5	1482	HP:0000280	Coarse facial features
ORPHA:95712	NKX2-5	1482	HP:0001324	Muscle weakness
ORPHA:95712	NKX2-5	1482	HP:0000158	Macroglossia
ORPHA:95712	NKX2-5	1482	HP:0100786	Hypersomnia
ORPHA:95712	NKX2-5	1482	HP:0003270	Abdominal distention
ORPHA:95712	NKX2-5	1482	HP:0100028	Ectopic thyroid
ORPHA:95712	NKX2-5	1482	HP:0001263	Global developmental delay
ORPHA:95712	NKX2-5	1482	HP:0000239	Large fontanelles
OMIM:216550	VPS13B	157680	HP:0000007	Autosomal recessive inheritance
OMIM:216550	VPS13B	157680	HP:0000954	Single transverse palmar crease
OMIM:216550	VPS13B	157680	HP:0000505	Visual impairment
OMIM:216550	VPS13B	157680	HP:0000648	Optic atrophy
OMIM:216550	VPS13B	157680	HP:0001601	Laryngomalacia
OMIM:216550	VPS13B	157680	HP:0008915	Childhood-onset truncal obesity
OMIM:216550	VPS13B	157680	HP:0000194	Open mouth
OMIM:216550	VPS13B	157680	HP:0000675	Macrodontia of permanent maxillary central incisor
OMIM:216550	VPS13B	157680	HP:0000823	Delayed puberty
OMIM:216550	VPS13B	157680	HP:0001182	Tapered finger
OMIM:216550	VPS13B	157680	HP:0000297	Facial hypotonia
OMIM:216550	VPS13B	157680	HP:0007074	Thick corpus callosum
OMIM:216550	VPS13B	157680	HP:0000444	Convex nasal ridge
OMIM:216550	VPS13B	157680	HP:0001321	Cerebellar hypoplasia
OMIM:216550	VPS13B	157680	HP:0000347	Micrognathia
OMIM:216550	VPS13B	157680	HP:0001882	Leukopenia
OMIM:216550	VPS13B	157680	HP:0002705	High, narrow palate
OMIM:216550	VPS13B	157680	HP:0000824	Growth hormone deficiency
OMIM:216550	VPS13B	157680	HP:0001518	Small for gestational age
OMIM:216550	VPS13B	157680	HP:0000494	Downslanted palpebral fissures
OMIM:216550	VPS13B	157680	HP:0001763	Pes planus
OMIM:216550	VPS13B	157680	HP:0004322	Short stature
OMIM:216550	VPS13B	157680	HP:0007663	Reduced visual acuity
OMIM:216550	VPS13B	157680	HP:0010049	Short metacarpal
OMIM:216550	VPS13B	157680	HP:0001382	Joint hypermobility
OMIM:216550	VPS13B	157680	HP:0000574	Thick eyebrow
OMIM:216550	VPS13B	157680	HP:0000252	Microcephaly
OMIM:216550	VPS13B	157680	HP:0001250	Seizures
OMIM:216550	VPS13B	157680	HP:0002967	Cubitus valgus
OMIM:216550	VPS13B	157680	HP:0004283	Narrow palm
OMIM:216550	VPS13B	157680	HP:0002857	Genu valgum
OMIM:216550	VPS13B	157680	HP:0001634	Mitral valve prolapse
OMIM:216550	VPS13B	157680	HP:0001249	Intellectual disability
OMIM:216550	VPS13B	157680	HP:0002943	Thoracic scoliosis
OMIM:216550	VPS13B	157680	HP:0000327	Hypoplasia of the maxilla
OMIM:216550	VPS13B	157680	HP:0001135	Chorioretinal dystrophy
OMIM:216550	VPS13B	157680	HP:0001319	Neonatal hypotonia
OMIM:216550	VPS13B	157680	HP:0000545	Myopia
OMIM:216550	VPS13B	157680	HP:0010743	Short metatarsal
OMIM:216550	VPS13B	157680	HP:0000426	Prominent nasal bridge
OMIM:216550	VPS13B	157680	HP:0001875	Neutropenia
OMIM:216550	VPS13B	157680	HP:0001290	Generalized hypotonia
OMIM:216550	VPS13B	157680	HP:0000322	Short philtrum
OMIM:216550	VPS13B	157680	HP:0001270	Motor delay
OMIM:216550	VPS13B	157680	HP:0002938	Lumbar hyperlordosis
OMIM:216550	VPS13B	157680	HP:0008872	Feeding difficulties in infancy
OMIM:612718	GATM	2628	HP:0001249	Intellectual disability
OMIM:612718	GATM	2628	HP:0000750	Delayed speech and language development
OMIM:612718	GATM	2628	HP:0000717	Autism
OMIM:612718	GATM	2628	HP:0001508	Failure to thrive
OMIM:612718	GATM	2628	HP:0000007	Autosomal recessive inheritance
OMIM:612718	GATM	2628	HP:0003593	Infantile onset
OMIM:612718	GATM	2628	HP:0001992	Organic aciduria
OMIM:612718	GATM	2628	HP:0012113	Abnormality of creatine metabolism
OMIM:612718	GATM	2628	HP:0001263	Global developmental delay
OMIM:145250	KITLG	4254	HP:0001003	Multiple lentigines
OMIM:145250	KITLG	4254	HP:0007505	Progressive hyperpigmentation
OMIM:145250	KITLG	4254	HP:0003593	Infantile onset
OMIM:145250	KITLG	4254	HP:0000006	Autosomal dominant inheritance
OMIM:145250	KITLG	4254	HP:0000962	Hyperkeratosis
OMIM:145250	KITLG	4254	HP:0000957	Cafe-au-lait spot
OMIM:145250	KITLG	4254	HP:0001053	Hypopigmented skin patches
ORPHA:93274	FGFR3	2261	HP:0002119	Ventriculomegaly
ORPHA:93274	FGFR3	2261	HP:0000926	Platyspondyly
ORPHA:93274	FGFR3	2261	HP:0000256	Macrocephaly
ORPHA:93274	FGFR3	2261	HP:0002983	Micromelia
ORPHA:93274	FGFR3	2261	HP:0004322	Short stature
ORPHA:93274	FGFR3	2261	HP:0010880	Increased nuchal translucency
ORPHA:93274	FGFR3	2261	HP:0002007	Frontal bossing
ORPHA:93274	FGFR3	2261	HP:0001156	Brachydactyly
ORPHA:93274	FGFR3	2261	HP:0100543	Cognitive impairment
ORPHA:93274	FGFR3	2261	HP:0000365	Hearing impairment
ORPHA:93274	FGFR3	2261	HP:0001561	Polyhydramnios
ORPHA:93274	FGFR3	2261	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:93274	FGFR3	2261	HP:0010306	Short thorax
ORPHA:93274	FGFR3	2261	HP:0000520	Proptosis
ORPHA:93274	FGFR3	2261	HP:0002676	Cloverleaf skull
ORPHA:93274	FGFR3	2261	HP:0002808	Kyphosis
ORPHA:93274	FGFR3	2261	HP:0000944	Abnormality of the metaphysis
ORPHA:93274	FGFR3	2261	HP:0002093	Respiratory insufficiency
ORPHA:93274	FGFR3	2261	HP:0000774	Narrow chest
ORPHA:93274	FGFR3	2261	HP:0005280	Depressed nasal bridge
ORPHA:93274	FGFR3	2261	HP:0001582	Redundant skin
ORPHA:93274	FGFR3	2261	HP:0012368	Flat face
ORPHA:93274	FGFR3	2261	HP:0001250	Seizures
ORPHA:93274	FGFR3	2261	HP:0001252	Muscular hypotonia
ORPHA:93274	FGFR3	2261	HP:0005692	Joint hyperflexibility
ORPHA:93274	FGFR3	2261	HP:0002652	Skeletal dysplasia
OMIM:615444	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615444	ZMYND10	51364	HP:0100582	Nasal polyposis
OMIM:615444	ZMYND10	51364	HP:0004469	Chronic bronchitis
OMIM:615444	ZMYND10	51364	HP:0000789	Infertility
OMIM:615444	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:615444	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615444	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615444	ZMYND10	51364	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
OMIM:615444	ZMYND10	51364	HP:0012265	Ciliary dyskinesia
OMIM:615444	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615444	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615444	ZMYND10	51364	HP:0012207	Reduced sperm motility
OMIM:615444	ZMYND10	51364	HP:0012384	Rhinitis
ORPHA:220402	CTGF	1490	HP:0002017	Nausea and vomiting
ORPHA:220402	CTGF	1490	HP:0002020	Gastroesophageal reflux
ORPHA:220402	CTGF	1490	HP:0002960	Autoimmunity
ORPHA:220402	CTGF	1490	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	CTGF	1490	HP:0002015	Dysphagia
ORPHA:220402	CTGF	1490	HP:0100585	Telangiectasia of the skin
ORPHA:220402	CTGF	1490	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	CTGF	1490	HP:0200042	Skin ulcer
ORPHA:220402	CTGF	1490	HP:0001053	Hypopigmented skin patches
ORPHA:220402	HLA-DRB1	3123	HP:0002017	Nausea and vomiting
ORPHA:220402	HLA-DRB1	3123	HP:0002020	Gastroesophageal reflux
ORPHA:220402	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHA:220402	HLA-DRB1	3123	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	HLA-DRB1	3123	HP:0002015	Dysphagia
ORPHA:220402	HLA-DRB1	3123	HP:0100585	Telangiectasia of the skin
ORPHA:220402	HLA-DRB1	3123	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	HLA-DRB1	3123	HP:0200042	Skin ulcer
ORPHA:220402	HLA-DRB1	3123	HP:0001053	Hypopigmented skin patches
ORPHA:220402	CCR6	1235	HP:0002017	Nausea and vomiting
ORPHA:220402	CCR6	1235	HP:0002020	Gastroesophageal reflux
ORPHA:220402	CCR6	1235	HP:0002960	Autoimmunity
ORPHA:220402	CCR6	1235	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	CCR6	1235	HP:0002015	Dysphagia
ORPHA:220402	CCR6	1235	HP:0100585	Telangiectasia of the skin
ORPHA:220402	CCR6	1235	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	CCR6	1235	HP:0200042	Skin ulcer
ORPHA:220402	CCR6	1235	HP:0001053	Hypopigmented skin patches
ORPHA:220402	CAV1	857	HP:0002017	Nausea and vomiting
ORPHA:220402	CAV1	857	HP:0002020	Gastroesophageal reflux
ORPHA:220402	CAV1	857	HP:0002960	Autoimmunity
ORPHA:220402	CAV1	857	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	CAV1	857	HP:0002015	Dysphagia
ORPHA:220402	CAV1	857	HP:0100585	Telangiectasia of the skin
ORPHA:220402	CAV1	857	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	CAV1	857	HP:0200042	Skin ulcer
ORPHA:220402	CAV1	857	HP:0001053	Hypopigmented skin patches
ORPHA:220402	KIAA0319L	79932	HP:0002017	Nausea and vomiting
ORPHA:220402	KIAA0319L	79932	HP:0002020	Gastroesophageal reflux
ORPHA:220402	KIAA0319L	79932	HP:0002960	Autoimmunity
ORPHA:220402	KIAA0319L	79932	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	KIAA0319L	79932	HP:0002015	Dysphagia
ORPHA:220402	KIAA0319L	79932	HP:0100585	Telangiectasia of the skin
ORPHA:220402	KIAA0319L	79932	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	KIAA0319L	79932	HP:0200042	Skin ulcer
ORPHA:220402	KIAA0319L	79932	HP:0001053	Hypopigmented skin patches
ORPHA:220402	IRF5	3663	HP:0002017	Nausea and vomiting
ORPHA:220402	IRF5	3663	HP:0002020	Gastroesophageal reflux
ORPHA:220402	IRF5	3663	HP:0002960	Autoimmunity
ORPHA:220402	IRF5	3663	HP:0100579	Mucosal telangiectasiae
ORPHA:220402	IRF5	3663	HP:0002015	Dysphagia
ORPHA:220402	IRF5	3663	HP:0100585	Telangiectasia of the skin
ORPHA:220402	IRF5	3663	HP:0100958	Narrow foramen obturatorium
ORPHA:220402	IRF5	3663	HP:0200042	Skin ulcer
ORPHA:220402	IRF5	3663	HP:0001053	Hypopigmented skin patches
ORPHA:57782	GNAS	2778	HP:0010734	Fibrous dysplasia of the bones
OMIM:616400	TRPV3	162514	HP:0000006	Autosomal dominant inheritance
OMIM:616400	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
ORPHA:35069	PLA2G6	8398	HP:0000505	Visual impairment
ORPHA:35069	PLA2G6	8398	HP:0002376	Developmental regression
ORPHA:35069	PLA2G6	8398	HP:0000639	Nystagmus
ORPHA:35069	PLA2G6	8398	HP:0001252	Muscular hypotonia
ORPHA:35069	PLA2G6	8398	HP:0000648	Optic atrophy
ORPHA:35069	PLA2G6	8398	HP:0004326	Cachexia
OMIM:600666	GANAB	23193	HP:0003828	Variable expressivity
OMIM:600666	GANAB	23193	HP:0001407	Hepatic cysts
OMIM:600666	GANAB	23193	HP:0000006	Autosomal dominant inheritance
OMIM:600666	GANAB	23193	HP:0004944	Dilatation of the cerebral artery
OMIM:600666	GANAB	23193	HP:0000113	Polycystic kidney dysplasia
OMIM:611819	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:611819	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:611819	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SCN4B	6330	HP:0001678	Atrioventricular block
OMIM:611819	SCN4B	6330	HP:0012266	T-wave alternans
OMIM:254900	SCARB2	950	HP:0001272	Cerebellar atrophy
OMIM:254900	SCARB2	950	HP:0002174	Postural tremor
OMIM:254900	SCARB2	950	HP:0000112	Nephropathy
OMIM:254900	SCARB2	950	HP:0000097	Focal segmental glomerulosclerosis
OMIM:254900	SCARB2	950	HP:0001260	Dysarthria
OMIM:254900	SCARB2	950	HP:0001873	Thrombocytopenia
OMIM:254900	SCARB2	950	HP:0000083	Renal insufficiency
OMIM:254900	SCARB2	950	HP:0000093	Proteinuria
OMIM:254900	SCARB2	950	HP:0003678	Rapidly progressive
OMIM:254900	SCARB2	950	HP:0002197	Generalized seizures
OMIM:254900	SCARB2	950	HP:0002066	Gait ataxia
OMIM:254900	SCARB2	950	HP:0002015	Dysphagia
OMIM:254900	SCARB2	950	HP:0002080	Intention tremor
OMIM:254900	SCARB2	950	HP:0000007	Autosomal recessive inheritance
OMIM:254900	SCARB2	950	HP:0001336	Myoclonus
OMIM:254900	SCARB2	950	HP:0000100	Nephrotic syndrome
OMIM:214450	MYO5A	4644	HP:0002220	Melanin pigment aggregation in hair shafts
OMIM:214450	MYO5A	4644	HP:0000007	Autosomal recessive inheritance
OMIM:214450	MYO5A	4644	HP:0001250	Seizures
OMIM:214450	MYO5A	4644	HP:0001010	Hypopigmentation of the skin
OMIM:214450	MYO5A	4644	HP:0001249	Intellectual disability
OMIM:214450	MYO5A	4644	HP:0001263	Global developmental delay
OMIM:214450	MYO5A	4644	HP:0002218	Silver-gray hair
OMIM:214450	MYO5A	4644	HP:0001290	Generalized hypotonia
OMIM:214450	MYO5A	4644	HP:0001008	Accumulation of melanosomes in melanocytes
OMIM:214450	MYO5A	4644	HP:0003593	Infantile onset
OMIM:159900	DRD2	1813	HP:0002356	Writer's cramp
OMIM:159900	DRD2	1813	HP:0003621	Juvenile onset
OMIM:159900	DRD2	1813	HP:0000716	Depressivity
OMIM:159900	DRD2	1813	HP:0000722	Obsessive-compulsive behavior
OMIM:159900	DRD2	1813	HP:0000473	Torticollis
OMIM:159900	DRD2	1813	HP:0001337	Tremor
OMIM:159900	DRD2	1813	HP:0001336	Myoclonus
OMIM:159900	DRD2	1813	HP:0000756	Agoraphobia
OMIM:159900	DRD2	1813	HP:0003829	Incomplete penetrance
OMIM:159900	DRD2	1813	HP:0000006	Autosomal dominant inheritance
OMIM:159900	DRD2	1813	HP:0000739	Anxiety
OMIM:159900	SGCE	8910	HP:0002356	Writer's cramp
OMIM:159900	SGCE	8910	HP:0003621	Juvenile onset
OMIM:159900	SGCE	8910	HP:0000716	Depressivity
OMIM:159900	SGCE	8910	HP:0000722	Obsessive-compulsive behavior
OMIM:159900	SGCE	8910	HP:0000473	Torticollis
OMIM:159900	SGCE	8910	HP:0001337	Tremor
OMIM:159900	SGCE	8910	HP:0001336	Myoclonus
OMIM:159900	SGCE	8910	HP:0000756	Agoraphobia
OMIM:159900	SGCE	8910	HP:0003829	Incomplete penetrance
OMIM:159900	SGCE	8910	HP:0000006	Autosomal dominant inheritance
OMIM:159900	SGCE	8910	HP:0000739	Anxiety
OMIM:614881	DNAJB2	3300	HP:0003677	Slow progression
OMIM:614881	DNAJB2	3300	HP:0001288	Gait disturbance
OMIM:614881	DNAJB2	3300	HP:0001284	Areflexia
OMIM:614881	DNAJB2	3300	HP:0009027	Foot dorsiflexor weakness
OMIM:614881	DNAJB2	3300	HP:0000007	Autosomal recessive inheritance
OMIM:614881	DNAJB2	3300	HP:0002936	Distal sensory impairment
OMIM:614881	DNAJB2	3300	HP:0007269	Spinal muscular atrophy
ORPHA:232	HBB	3043	HP:0001923	Reticulocytosis
ORPHA:232	HBB	3043	HP:0004870	Chronic hemolytic anemia
ORPHA:232	HBB	3043	HP:0000939	Osteoporosis
ORPHA:232	HBB	3043	HP:0002754	Osteomyelitis
ORPHA:232	HBB	3043	HP:0002719	Recurrent infections
ORPHA:232	HBB	3043	HP:0010885	Aseptic necrosis
ORPHA:232	HBB	3043	HP:0001743	Abnormality of the spleen
ORPHA:232	HBB	3043	HP:0100749	Chest pain
ORPHA:232	HBB	3043	HP:0001894	Thrombocytosis
ORPHA:232	HBB	3043	HP:0001974	Leukocytosis
ORPHA:232	HBB	3043	HP:0011981	Pigment gallstones
ORPHA:232	HBB	3043	HP:0001891	Iron deficiency anemia
OMIM:615234	STEAP3	55240	HP:0001744	Splenomegaly
OMIM:615234	STEAP3	55240	HP:0001903	Anemia
OMIM:615234	STEAP3	55240	HP:0002240	Hepatomegaly
OMIM:615234	STEAP3	55240	HP:0000006	Autosomal dominant inheritance
OMIM:615234	STEAP3	55240	HP:0025066	Decreased mean corpuscular volume
OMIM:615234	STEAP3	55240	HP:0000027	Azoospermia
OMIM:615234	STEAP3	55240	HP:0003281	Increased serum ferritin
OMIM:615234	STEAP3	55240	HP:0000135	Hypogonadism
ORPHA:2053	NALCN	259232	HP:0000160	Narrow mouth
ORPHA:2053	NALCN	259232	HP:0008872	Feeding difficulties in infancy
ORPHA:2053	NALCN	259232	HP:0002650	Scoliosis
ORPHA:2053	NALCN	259232	HP:0000343	Long philtrum
ORPHA:2053	NALCN	259232	HP:0001387	Joint stiffness
ORPHA:2053	NALCN	259232	HP:0000316	Hypertelorism
ORPHA:2053	NALCN	259232	HP:0100490	Camptodactyly of finger
ORPHA:2053	NALCN	259232	HP:0000508	Ptosis
ORPHA:2053	NALCN	259232	HP:0001762	Talipes equinovarus
ORPHA:2053	NALCN	259232	HP:0001557	Prenatal movement abnormality
ORPHA:2053	NALCN	259232	HP:0000457	Depressed nasal ridge
ORPHA:2053	NALCN	259232	HP:0002047	Malignant hyperthermia
ORPHA:2053	NALCN	259232	HP:0004322	Short stature
ORPHA:2053	NALCN	259232	HP:0002167	Neurological speech impairment
ORPHA:2053	NALCN	259232	HP:0000431	Wide nasal bridge
ORPHA:2053	NALCN	259232	HP:0000164	Abnormality of the dentition
ORPHA:2053	NALCN	259232	HP:0000028	Cryptorchidism
ORPHA:2053	NALCN	259232	HP:0000365	Hearing impairment
ORPHA:2053	NALCN	259232	HP:0000486	Strabismus
ORPHA:2053	NALCN	259232	HP:0000430	Underdeveloped nasal alae
ORPHA:2053	NALCN	259232	HP:0001611	Nasal speech
ORPHA:2053	NALCN	259232	HP:0010751	Dimple chin
ORPHA:2053	NALCN	259232	HP:0000490	Deeply set eye
ORPHA:2053	NALCN	259232	HP:0009465	Ulnar deviation of finger
ORPHA:2053	NALCN	259232	HP:0000494	Downslanted palpebral fissures
ORPHA:2053	NALCN	259232	HP:0001508	Failure to thrive
ORPHA:2053	MYH3	4621	HP:0000160	Narrow mouth
ORPHA:2053	MYH3	4621	HP:0008872	Feeding difficulties in infancy
ORPHA:2053	MYH3	4621	HP:0002650	Scoliosis
ORPHA:2053	MYH3	4621	HP:0000343	Long philtrum
ORPHA:2053	MYH3	4621	HP:0001387	Joint stiffness
ORPHA:2053	MYH3	4621	HP:0000316	Hypertelorism
ORPHA:2053	MYH3	4621	HP:0100490	Camptodactyly of finger
ORPHA:2053	MYH3	4621	HP:0000508	Ptosis
ORPHA:2053	MYH3	4621	HP:0001762	Talipes equinovarus
ORPHA:2053	MYH3	4621	HP:0001557	Prenatal movement abnormality
ORPHA:2053	MYH3	4621	HP:0000457	Depressed nasal ridge
ORPHA:2053	MYH3	4621	HP:0002047	Malignant hyperthermia
ORPHA:2053	MYH3	4621	HP:0004322	Short stature
ORPHA:2053	MYH3	4621	HP:0002167	Neurological speech impairment
ORPHA:2053	MYH3	4621	HP:0000431	Wide nasal bridge
ORPHA:2053	MYH3	4621	HP:0000164	Abnormality of the dentition
ORPHA:2053	MYH3	4621	HP:0000028	Cryptorchidism
ORPHA:2053	MYH3	4621	HP:0000365	Hearing impairment
ORPHA:2053	MYH3	4621	HP:0000486	Strabismus
ORPHA:2053	MYH3	4621	HP:0000430	Underdeveloped nasal alae
ORPHA:2053	MYH3	4621	HP:0001611	Nasal speech
ORPHA:2053	MYH3	4621	HP:0010751	Dimple chin
ORPHA:2053	MYH3	4621	HP:0000490	Deeply set eye
ORPHA:2053	MYH3	4621	HP:0009465	Ulnar deviation of finger
ORPHA:2053	MYH3	4621	HP:0000494	Downslanted palpebral fissures
ORPHA:2053	MYH3	4621	HP:0001508	Failure to thrive
OMIM:613680	THOC6	79228	HP:0000007	Autosomal recessive inheritance
OMIM:613680	THOC6	79228	HP:0012745	Short palpebral fissure
OMIM:613680	THOC6	79228	HP:0001249	Intellectual disability
OMIM:613680	THOC6	79228	HP:0000490	Deeply set eye
OMIM:613680	THOC6	79228	HP:0001263	Global developmental delay
OMIM:613680	THOC6	79228	HP:0000252	Microcephaly
OMIM:613680	THOC6	79228	HP:0000670	Carious teeth
OMIM:613680	THOC6	79228	HP:0001643	Patent ductus arteriosus
OMIM:613680	THOC6	79228	HP:0009890	High anterior hairline
OMIM:613680	THOC6	79228	HP:0000348	High forehead
OMIM:613680	THOC6	79228	HP:0003189	Long nose
OMIM:613680	THOC6	79228	HP:0001999	Abnormal facial shape
OMIM:613680	THOC6	79228	HP:0009765	Low hanging columella
OMIM:613680	THOC6	79228	HP:0000689	Dental malocclusion
OMIM:613680	THOC6	79228	HP:0000545	Myopia
OMIM:613680	THOC6	79228	HP:0030127	Endometriosis
OMIM:613680	THOC6	79228	HP:0000010	Recurrent urinary tract infections
OMIM:613680	THOC6	79228	HP:0000581	Blepharophimosis
OMIM:613680	THOC6	79228	HP:0000582	Upslanted palpebral fissure
OMIM:613680	THOC6	79228	HP:0000085	Horseshoe kidney
OMIM:608567	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:608567	SCN5A	6331	HP:0001688	Sinus bradycardia
OMIM:608567	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:608567	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:608567	SCN5A	6331	HP:0005155	Ventricular escape rhythm
OMIM:608567	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:608567	SCN5A	6331	HP:0011704	Sick sinus syndrome
OMIM:608567	SCN5A	6331	HP:0003577	Congenital onset
OMIM:613216	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:613216	TRPM1	4308	HP:0000512	Abnormal electroretinogram
OMIM:613216	TRPM1	4308	HP:0000545	Myopia
OMIM:613216	TRPM1	4308	HP:0000639	Nystagmus
OMIM:613216	TRPM1	4308	HP:0000958	Dry skin
OMIM:613216	TRPM1	4308	HP:0007663	Reduced visual acuity
OMIM:613216	TRPM1	4308	HP:0000964	Eczema
ORPHA:379	CYBB	1536	HP:0001945	Fever
ORPHA:379	CYBB	1536	HP:0001034	Hypermelanotic macule
ORPHA:379	CYBB	1536	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	CYBB	1536	HP:0002575	Tracheoesophageal fistula
ORPHA:379	CYBB	1536	HP:0002205	Recurrent respiratory infections
ORPHA:379	CYBB	1536	HP:0002024	Malabsorption
ORPHA:379	CYBB	1536	HP:0000388	Otitis media
ORPHA:379	CYBB	1536	HP:0002021	Pyloric stenosis
ORPHA:379	CYBB	1536	HP:0002240	Hepatomegaly
ORPHA:379	CYBB	1536	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	CYBB	1536	HP:0001874	Abnormality of neutrophils
ORPHA:379	CYBB	1536	HP:0000246	Sinusitis
ORPHA:379	CYBB	1536	HP:0000992	Cutaneous photosensitivity
ORPHA:379	NCF2	4688	HP:0001945	Fever
ORPHA:379	NCF2	4688	HP:0001034	Hypermelanotic macule
ORPHA:379	NCF2	4688	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	NCF2	4688	HP:0002575	Tracheoesophageal fistula
ORPHA:379	NCF2	4688	HP:0002205	Recurrent respiratory infections
ORPHA:379	NCF2	4688	HP:0002024	Malabsorption
ORPHA:379	NCF2	4688	HP:0000388	Otitis media
ORPHA:379	NCF2	4688	HP:0002021	Pyloric stenosis
ORPHA:379	NCF2	4688	HP:0002240	Hepatomegaly
ORPHA:379	NCF2	4688	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	NCF2	4688	HP:0001874	Abnormality of neutrophils
ORPHA:379	NCF2	4688	HP:0000246	Sinusitis
ORPHA:379	NCF2	4688	HP:0000992	Cutaneous photosensitivity
ORPHA:379	NCF4	4689	HP:0001945	Fever
ORPHA:379	NCF4	4689	HP:0001034	Hypermelanotic macule
ORPHA:379	NCF4	4689	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	NCF4	4689	HP:0002575	Tracheoesophageal fistula
ORPHA:379	NCF4	4689	HP:0002205	Recurrent respiratory infections
ORPHA:379	NCF4	4689	HP:0002024	Malabsorption
ORPHA:379	NCF4	4689	HP:0000388	Otitis media
ORPHA:379	NCF4	4689	HP:0002021	Pyloric stenosis
ORPHA:379	NCF4	4689	HP:0002240	Hepatomegaly
ORPHA:379	NCF4	4689	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	NCF4	4689	HP:0001874	Abnormality of neutrophils
ORPHA:379	NCF4	4689	HP:0000246	Sinusitis
ORPHA:379	NCF4	4689	HP:0000992	Cutaneous photosensitivity
ORPHA:379	NCF1	653361	HP:0001945	Fever
ORPHA:379	NCF1	653361	HP:0001034	Hypermelanotic macule
ORPHA:379	NCF1	653361	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	NCF1	653361	HP:0002575	Tracheoesophageal fistula
ORPHA:379	NCF1	653361	HP:0002205	Recurrent respiratory infections
ORPHA:379	NCF1	653361	HP:0002024	Malabsorption
ORPHA:379	NCF1	653361	HP:0000388	Otitis media
ORPHA:379	NCF1	653361	HP:0002021	Pyloric stenosis
ORPHA:379	NCF1	653361	HP:0002240	Hepatomegaly
ORPHA:379	NCF1	653361	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	NCF1	653361	HP:0001874	Abnormality of neutrophils
ORPHA:379	NCF1	653361	HP:0000246	Sinusitis
ORPHA:379	NCF1	653361	HP:0000992	Cutaneous photosensitivity
ORPHA:379	CYBA	1535	HP:0001945	Fever
ORPHA:379	CYBA	1535	HP:0001034	Hypermelanotic macule
ORPHA:379	CYBA	1535	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	CYBA	1535	HP:0002575	Tracheoesophageal fistula
ORPHA:379	CYBA	1535	HP:0002205	Recurrent respiratory infections
ORPHA:379	CYBA	1535	HP:0002024	Malabsorption
ORPHA:379	CYBA	1535	HP:0000388	Otitis media
ORPHA:379	CYBA	1535	HP:0002021	Pyloric stenosis
ORPHA:379	CYBA	1535	HP:0002240	Hepatomegaly
ORPHA:379	CYBA	1535	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	CYBA	1535	HP:0001874	Abnormality of neutrophils
ORPHA:379	CYBA	1535	HP:0000246	Sinusitis
ORPHA:379	CYBA	1535	HP:0000992	Cutaneous photosensitivity
OMIM:608091	TMEM216	51259	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	TMEM216	51259	HP:0000107	Renal cyst
OMIM:608091	TMEM216	51259	HP:0002007	Frontal bossing
OMIM:608091	TMEM216	51259	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	TMEM216	51259	HP:0000565	Esotropia
OMIM:608091	TMEM216	51259	HP:0000268	Dolichocephaly
OMIM:608091	TMEM216	51259	HP:0001251	Ataxia
OMIM:608091	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:608091	TMEM216	51259	HP:0012211	Abnormal renal physiology
OMIM:608091	TMEM216	51259	HP:0000556	Retinal dystrophy
OMIM:608091	TMEM216	51259	HP:0003812	Phenotypic variability
OMIM:608091	TMEM216	51259	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	TMEM216	51259	HP:0001760	Abnormality of the foot
OMIM:608091	TMEM216	51259	HP:0000588	Optic nerve coloboma
OMIM:608091	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:608091	TMEM216	51259	HP:0000316	Hypertelorism
OMIM:608091	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:608091	TMEM216	51259	HP:0007772	Impaired smooth pursuit
OMIM:608091	TMEM216	51259	HP:0000256	Macrocephaly
OMIM:608091	TMEM216	51259	HP:0000505	Visual impairment
OMIM:608091	TMEM216	51259	HP:0000639	Nystagmus
OMIM:608091	TMEM216	51259	HP:0002508	Brainstem dysplasia
OMIM:608091	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:608091	TMEM216	51259	HP:0000369	Low-set ears
OMIM:608091	TMEM216	51259	HP:0002871	Central apnea
OMIM:608091	TMEM216	51259	HP:0002876	Episodic tachypnea
OMIM:608091	TMEM216	51259	HP:0002084	Encephalocele
OMIM:608091	TMEM216	51259	HP:0000657	Oculomotor apraxia
OMIM:608091	TMEM216	51259	HP:0000567	Chorioretinal coloboma
OMIM:608091	TMEM216	51259	HP:0001508	Failure to thrive
OMIM:608091	TMEM216	51259	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	TMEM216	51259	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	TMEM216	51259	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:608091	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:608091	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:608091	TMEM216	51259	HP:0001290	Generalized hypotonia
OMIM:608091	TMEM216	51259	HP:0000218	High palate
OMIM:608091	TMEM216	51259	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	TMEM216	51259	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	TMEM216	51259	HP:0001425	Heterogeneous
OMIM:608091	TMEM216	51259	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	TMEM216	51259	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	TMEM216	51259	HP:0005280	Depressed nasal bridge
OMIM:608091	TMEM216	51259	HP:0001263	Global developmental delay
OMIM:605115	NR3C2	4306	HP:0003351	Decreased circulating renin level
OMIM:605115	NR3C2	4306	HP:0008071	Maternal hypertension
OMIM:605115	NR3C2	4306	HP:0004319	Decreased circulating aldosterone level
OMIM:605115	NR3C2	4306	HP:0000822	Hypertension
OMIM:605115	NR3C2	4306	HP:0000006	Autosomal dominant inheritance
OMIM:616672	CARS2	79587	HP:0000007	Autosomal recessive inheritance
OMIM:616672	CARS2	79587	HP:0001332	Dystonia
OMIM:616672	CARS2	79587	HP:0002133	Status epilepticus
OMIM:616672	CARS2	79587	HP:0006829	Severe muscular hypotonia
OMIM:616672	CARS2	79587	HP:0005484	Postnatal microcephaly
OMIM:616672	CARS2	79587	HP:0200134	Epileptic encephalopathy
OMIM:616672	CARS2	79587	HP:0001414	Microvesicular hepatic steatosis
OMIM:616672	CARS2	79587	HP:0002179	Opisthotonus
OMIM:616672	CARS2	79587	HP:0002059	Cerebral atrophy
OMIM:616672	CARS2	79587	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616672	CARS2	79587	HP:0002072	Chorea
OMIM:616672	CARS2	79587	HP:0001263	Global developmental delay
OMIM:616672	CARS2	79587	HP:0001284	Areflexia
OMIM:616672	CARS2	79587	HP:0001508	Failure to thrive
OMIM:616672	CARS2	79587	HP:0001336	Myoclonus
OMIM:616672	CARS2	79587	HP:0011968	Feeding difficulties
OMIM:609284	TPM3	7170	HP:0000276	Long face
OMIM:609284	TPM3	7170	HP:0001371	Flexion contracture
OMIM:609284	TPM3	7170	HP:0001761	Pes cavus
OMIM:609284	TPM3	7170	HP:0002015	Dysphagia
OMIM:609284	TPM3	7170	HP:0000275	Narrow face
OMIM:609284	TPM3	7170	HP:0009053	Distal lower limb muscle weakness
OMIM:609284	TPM3	7170	HP:0001349	Facial diplegia
OMIM:609284	TPM3	7170	HP:0001425	Heterogeneous
OMIM:609284	TPM3	7170	HP:0003621	Juvenile onset
OMIM:609284	TPM3	7170	HP:0000467	Neck muscle weakness
OMIM:609284	TPM3	7170	HP:0008944	Distal lower limb amyotrophy
OMIM:609284	TPM3	7170	HP:0000006	Autosomal dominant inheritance
OMIM:609284	TPM3	7170	HP:0000007	Autosomal recessive inheritance
OMIM:609284	TPM3	7170	HP:0003798	Nemaline bodies
OMIM:609284	TPM3	7170	HP:0000218	High palate
OMIM:609284	TPM3	7170	HP:0002650	Scoliosis
OMIM:609284	TPM3	7170	HP:0003458	EMG: myopathic abnormalities
OMIM:609284	TPM3	7170	HP:0003324	Generalized muscle weakness
OMIM:609284	TPM3	7170	HP:0001270	Motor delay
OMIM:609284	TPM3	7170	HP:0002093	Respiratory insufficiency
OMIM:609284	TPM3	7170	HP:0003701	Proximal muscle weakness
OMIM:609284	TPM3	7170	HP:0003724	Shoulder girdle muscle atrophy
OMIM:609284	TPM3	7170	HP:0000767	Pectus excavatum
ORPHA:261144	FOXG1	2290	HP:0001344	Absent speech
ORPHA:261144	FOXG1	2290	HP:0003781	Excessive salivation
ORPHA:261144	FOXG1	2290	HP:0001250	Seizures
ORPHA:261144	FOXG1	2290	HP:0002020	Gastroesophageal reflux
ORPHA:261144	FOXG1	2290	HP:0001252	Muscular hypotonia
ORPHA:261144	FOXG1	2290	HP:0000158	Macroglossia
ORPHA:261144	FOXG1	2290	HP:0000303	Mandibular prognathia
ORPHA:261144	FOXG1	2290	HP:0002808	Kyphosis
ORPHA:261144	FOXG1	2290	HP:0100540	Palpebral edema
ORPHA:261144	FOXG1	2290	HP:0000232	Everted lower lip vermilion
ORPHA:261144	FOXG1	2290	HP:0010804	Tented upper lip vermilion
ORPHA:261144	FOXG1	2290	HP:0005280	Depressed nasal bridge
ORPHA:261144	FOXG1	2290	HP:0011968	Feeding difficulties
ORPHA:261144	FOXG1	2290	HP:0001510	Growth delay
ORPHA:261144	FOXG1	2290	HP:0010864	Intellectual disability, severe
ORPHA:261144	FOXG1	2290	HP:0002376	Developmental regression
ORPHA:261144	FOXG1	2290	HP:0005487	Prominent metopic ridge
ORPHA:261144	FOXG1	2290	HP:0000286	Epicanthus
ORPHA:261144	FOXG1	2290	HP:0000319	Smooth philtrum
ORPHA:261144	FOXG1	2290	HP:0003196	Short nose
ORPHA:261144	FOXG1	2290	HP:0000494	Downslanted palpebral fissures
ORPHA:261144	FOXG1	2290	HP:0000733	Stereotypy
ORPHA:261144	FOXG1	2290	HP:0001274	Agenesis of corpus callosum
ORPHA:261144	FOXG1	2290	HP:0002650	Scoliosis
ORPHA:261144	FOXG1	2290	HP:0009738	Abnormality of the antihelix
ORPHA:261144	FOXG1	2290	HP:0000414	Bulbous nose
ORPHA:261144	FOXG1	2290	HP:0000252	Microcephaly
ORPHA:261144	FOXG1	2290	HP:0000411	Protruding ear
ORPHA:261144	FOXG1	2290	HP:0000581	Blepharophimosis
OMIM:245000	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:245000	CTSC	1075	HP:0006960	Choroid plexus calcification
OMIM:245000	CTSC	1075	HP:0000166	Severe periodontitis
OMIM:245000	CTSC	1075	HP:0000972	Palmoplantar hyperkeratosis
OMIM:245000	CTSC	1075	HP:0006480	Premature loss of teeth
OMIM:245000	CTSC	1075	HP:0006308	Atrophy of alveolar ridges
OMIM:617011	HERC1	8925	HP:0000256	Macrocephaly
OMIM:617011	HERC1	8925	HP:0000369	Low-set ears
OMIM:617011	HERC1	8925	HP:0001763	Pes planus
OMIM:617011	HERC1	8925	HP:0001833	Long foot
OMIM:617011	HERC1	8925	HP:0000272	Malar flattening
OMIM:617011	HERC1	8925	HP:0000325	Triangular face
OMIM:617011	HERC1	8925	HP:0000494	Downslanted palpebral fissures
OMIM:617011	HERC1	8925	HP:0001166	Arachnodactyly
OMIM:617011	HERC1	8925	HP:0001263	Global developmental delay
OMIM:617011	HERC1	8925	HP:0002650	Scoliosis
OMIM:617011	HERC1	8925	HP:0001290	Generalized hypotonia
OMIM:617011	HERC1	8925	HP:0001355	Megalencephaly
OMIM:617011	HERC1	8925	HP:0001249	Intellectual disability
OMIM:617011	HERC1	8925	HP:0002808	Kyphosis
OMIM:617011	HERC1	8925	HP:0002119	Ventriculomegaly
OMIM:617011	HERC1	8925	HP:0002007	Frontal bossing
OMIM:617011	HERC1	8925	HP:0000303	Mandibular prognathia
OMIM:617011	HERC1	8925	HP:0000358	Posteriorly rotated ears
OMIM:617011	HERC1	8925	HP:0000400	Macrotia
OMIM:617011	HERC1	8925	HP:0002066	Gait ataxia
OMIM:617011	HERC1	8925	HP:0000426	Prominent nasal bridge
OMIM:617011	HERC1	8925	HP:0000218	High palate
OMIM:617011	HERC1	8925	HP:0003307	Hyperlordosis
OMIM:617011	HERC1	8925	HP:0000472	Long neck
OMIM:617011	HERC1	8925	HP:0000276	Long face
OMIM:617011	HERC1	8925	HP:0001388	Joint laxity
OMIM:617011	HERC1	8925	HP:0045075	Sparse eyebrow
OMIM:617011	HERC1	8925	HP:0000098	Tall stature
OMIM:617011	HERC1	8925	HP:0000520	Proptosis
OMIM:617011	HERC1	8925	HP:0001176	Large hands
OMIM:617011	HERC1	8925	HP:0011220	Prominent forehead
OMIM:617011	HERC1	8925	HP:0000582	Upslanted palpebral fissure
OMIM:617011	HERC1	8925	HP:0000007	Autosomal recessive inheritance
OMIM:617011	HERC1	8925	HP:0000316	Hypertelorism
OMIM:617011	HERC1	8925	HP:0003577	Congenital onset
OMIM:270200	ALDH3A2	224	HP:0000613	Photophobia
OMIM:270200	ALDH3A2	224	HP:0004322	Short stature
OMIM:270200	ALDH3A2	224	HP:0007305	CNS demyelination
OMIM:270200	ALDH3A2	224	HP:0001257	Spasticity
OMIM:270200	ALDH3A2	224	HP:0008064	Ichthyosis
OMIM:270200	ALDH3A2	224	HP:0000608	Macular degeneration
OMIM:270200	ALDH3A2	224	HP:0002942	Thoracic kyphosis
OMIM:270200	ALDH3A2	224	HP:0001249	Intellectual disability
OMIM:270200	ALDH3A2	224	HP:0006297	Hypoplasia of dental enamel
OMIM:270200	ALDH3A2	224	HP:0007727	Opacification of the corneal epithelium
OMIM:270200	ALDH3A2	224	HP:0001250	Seizures
OMIM:270200	ALDH3A2	224	HP:0000007	Autosomal recessive inheritance
OMIM:273900	FYB1	2533	HP:0005537	Decreased mean platelet volume
OMIM:273900	FYB1	2533	HP:0000421	Epistaxis
OMIM:273900	FYB1	2533	HP:0000007	Autosomal recessive inheritance
OMIM:273900	FYB1	2533	HP:0001873	Thrombocytopenia
OMIM:273900	FYB1	2533	HP:0000924	Abnormality of the skeletal system
OMIM:614409	GBA2	57704	HP:0001272	Cerebellar atrophy
OMIM:614409	GBA2	57704	HP:0007340	Lower limb muscle weakness
OMIM:614409	GBA2	57704	HP:0002064	Spastic gait
OMIM:614409	GBA2	57704	HP:0006986	Upper limb spasticity
OMIM:614409	GBA2	57704	HP:0000518	Cataract
OMIM:614409	GBA2	57704	HP:0002406	Limb dysmetria
OMIM:614409	GBA2	57704	HP:0000020	Urinary incontinence
OMIM:614409	GBA2	57704	HP:0002059	Cerebral atrophy
OMIM:614409	GBA2	57704	HP:0011449	Knee clonus
OMIM:614409	GBA2	57704	HP:0001260	Dysarthria
OMIM:614409	GBA2	57704	HP:0008003	Jerky ocular pursuit movements
OMIM:614409	GBA2	57704	HP:0001761	Pes cavus
OMIM:614409	GBA2	57704	HP:0001258	Spastic paraplegia
OMIM:614409	GBA2	57704	HP:0000007	Autosomal recessive inheritance
OMIM:614409	GBA2	57704	HP:0000639	Nystagmus
OMIM:614409	GBA2	57704	HP:0003677	Slow progression
OMIM:614409	GBA2	57704	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614409	GBA2	57704	HP:0003487	Babinski sign
OMIM:614409	GBA2	57704	HP:0003676	Progressive
OMIM:614409	GBA2	57704	HP:0011448	Ankle clonus
OMIM:617248	HTRA2	27429	HP:0001510	Growth delay
OMIM:617248	HTRA2	27429	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617248	HTRA2	27429	HP:0001276	Hypertonia
OMIM:617248	HTRA2	27429	HP:0001290	Generalized hypotonia
OMIM:617248	HTRA2	27429	HP:0001662	Bradycardia
OMIM:617248	HTRA2	27429	HP:0002490	Increased CSF lactate
OMIM:617248	HTRA2	27429	HP:0000518	Cataract
OMIM:617248	HTRA2	27429	HP:0002059	Cerebral atrophy
OMIM:617248	HTRA2	27429	HP:0002878	Respiratory failure
OMIM:617248	HTRA2	27429	HP:0003535	3-Methylglutaconic aciduria
OMIM:617248	HTRA2	27429	HP:0001875	Neutropenia
OMIM:617248	HTRA2	27429	HP:0001332	Dystonia
OMIM:617248	HTRA2	27429	HP:0002104	Apnea
OMIM:617248	HTRA2	27429	HP:0002151	Increased serum lactate
OMIM:617248	HTRA2	27429	HP:0001337	Tremor
OMIM:617248	HTRA2	27429	HP:0001522	Death in infancy
OMIM:617248	HTRA2	27429	HP:0002033	Poor suck
OMIM:617248	HTRA2	27429	HP:0002119	Ventriculomegaly
OMIM:617248	HTRA2	27429	HP:0005484	Postnatal microcephaly
OMIM:617248	HTRA2	27429	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TCTN2	79867	HP:0001762	Talipes equinovarus
OMIM:613885	TCTN2	79867	HP:0000528	Anophthalmia
OMIM:613885	TCTN2	79867	HP:0002084	Encephalocele
OMIM:613885	TCTN2	79867	HP:0000369	Low-set ears
OMIM:613885	TCTN2	79867	HP:0003196	Short nose
OMIM:613885	TCTN2	79867	HP:0000252	Microcephaly
OMIM:613885	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TCTN2	79867	HP:0000457	Depressed nasal ridge
OMIM:613885	TCTN2	79867	HP:0000337	Broad forehead
OMIM:613885	TCTN2	79867	HP:0003270	Abdominal distention
OMIM:613885	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:613885	TCTN2	79867	HP:0010442	Polydactyly
OMIM:613885	TCTN2	79867	HP:0000204	Cleft upper lip
OMIM:613885	TCTN2	79867	HP:0000470	Short neck
OMIM:613885	TCTN2	79867	HP:0004719	Hyperechogenic kidneys
OMIM:613885	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:613885	TCTN2	79867	HP:0000175	Cleft palate
ORPHA:2118	HPD	3242	HP:0008070	Sparse hair
ORPHA:2118	HPD	3242	HP:0002213	Fine hair
ORPHA:2118	HPD	3242	HP:0001252	Muscular hypotonia
ORPHA:2118	HPD	3242	HP:0001942	Metabolic acidosis
ORPHA:2118	HPD	3242	HP:0010917	Abnormality of tyrosine metabolism
ORPHA:2118	HPD	3242	HP:0001508	Failure to thrive
ORPHA:2118	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
ORPHA:2118	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:220600	DLX5	1749	HP:0001839	Split foot
OMIM:220600	DLX5	1749	HP:0000007	Autosomal recessive inheritance
OMIM:220600	DLX5	1749	HP:0000407	Sensorineural hearing impairment
OMIM:220600	DLX5	1749	HP:0001171	Split hand
OMIM:605019	ANGPTL3	27329	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:605019	ANGPTL3	27329	HP:0012153	Hypotriglyceridemia
OMIM:605019	ANGPTL3	27329	HP:0000006	Autosomal dominant inheritance
OMIM:605019	ANGPTL3	27329	HP:0000007	Autosomal recessive inheritance
ORPHA:284979	FBN1	2200	HP:0000592	Blue sclerae
ORPHA:284979	FBN1	2200	HP:0001270	Motor delay
ORPHA:284979	FBN1	2200	HP:0001371	Flexion contracture
ORPHA:284979	FBN1	2200	HP:0005180	Tricuspid regurgitation
ORPHA:284979	FBN1	2200	HP:0001181	Adducted thumb
ORPHA:284979	FBN1	2200	HP:0030148	Heart murmur
ORPHA:284979	FBN1	2200	HP:0002705	High, narrow palate
ORPHA:284979	FBN1	2200	HP:0009901	Crumpled ear
ORPHA:284979	FBN1	2200	HP:0001166	Arachnodactyly
ORPHA:284979	FBN1	2200	HP:0000347	Micrognathia
ORPHA:284979	FBN1	2200	HP:0001083	Ectopia lentis
ORPHA:284979	FBN1	2200	HP:0100693	Iridodonesis
ORPHA:284979	FBN1	2200	HP:0100625	Enlarged thorax
ORPHA:284979	FBN1	2200	HP:0001252	Muscular hypotonia
ORPHA:284979	FBN1	2200	HP:0002643	Neonatal respiratory distress
ORPHA:284979	FBN1	2200	HP:0000431	Wide nasal bridge
ORPHA:284979	FBN1	2200	HP:0001704	Tricuspid valve prolapse
ORPHA:284979	FBN1	2200	HP:0001713	Abnormal cardiac ventricle morphology
ORPHA:284979	FBN1	2200	HP:0000490	Deeply set eye
ORPHA:284979	FBN1	2200	HP:0002097	Emphysema
ORPHA:284979	FBN1	2200	HP:0004970	Ascending aortic dilation
ORPHA:284979	FBN1	2200	HP:0001653	Mitral regurgitation
ORPHA:284979	FBN1	2200	HP:0011968	Feeding difficulties
ORPHA:284979	FBN1	2200	HP:0000494	Downslanted palpebral fissures
ORPHA:284979	FBN1	2200	HP:0000485	Megalocornea
ORPHA:284979	FBN1	2200	HP:0000768	Pectus carinatum
ORPHA:284979	FBN1	2200	HP:0010511	Long toe
ORPHA:284979	FBN1	2200	HP:0011003	Severe Myopia
ORPHA:284979	FBN1	2200	HP:0000268	Dolichocephaly
ORPHA:284979	FBN1	2200	HP:0100578	Lipoatrophy
ORPHA:284979	FBN1	2200	HP:0008124	Talipes calcaneovarus
ORPHA:284979	FBN1	2200	HP:0012418	Hypoxemia
ORPHA:284979	FBN1	2200	HP:0000369	Low-set ears
ORPHA:284979	FBN1	2200	HP:0003116	Abnormal echocardiogram
ORPHA:284979	FBN1	2200	HP:0001382	Joint hypermobility
ORPHA:284979	FBN1	2200	HP:0001634	Mitral valve prolapse
ORPHA:284979	FBN1	2200	HP:0012771	Increased arm span
ORPHA:284979	FBN1	2200	HP:0001265	Hyporeflexia
ORPHA:284979	FBN1	2200	HP:0008734	Decreased testicular size
ORPHA:284979	FBN1	2200	HP:0002631	Dilatation of ascending aorta
ORPHA:284979	FBN1	2200	HP:0000973	Cutis laxa
ORPHA:284979	FBN1	2200	HP:0001518	Small for gestational age
OMIM:268220	FOXO1	2308	HP:0000007	Autosomal recessive inheritance
OMIM:268220	FOXO1	2308	HP:0006779	Alveolar rhabdomyosarcoma
OMIM:268220	PAX3	5077	HP:0000007	Autosomal recessive inheritance
OMIM:268220	PAX3	5077	HP:0006779	Alveolar rhabdomyosarcoma
OMIM:268220	PAX7	5081	HP:0000007	Autosomal recessive inheritance
OMIM:268220	PAX7	5081	HP:0006779	Alveolar rhabdomyosarcoma
ORPHA:157965	SLC39A13	91252	HP:0006429	Broad femoral neck
ORPHA:157965	SLC39A13	91252	HP:0000494	Downslanted palpebral fissures
ORPHA:157965	SLC39A13	91252	HP:0001508	Failure to thrive
ORPHA:157965	SLC39A13	91252	HP:0010489	Absent palmar crease
ORPHA:157965	SLC39A13	91252	HP:0008848	Moderately short stature
ORPHA:157965	SLC39A13	91252	HP:0000520	Proptosis
ORPHA:157965	SLC39A13	91252	HP:0001182	Tapered finger
ORPHA:157965	SLC39A13	91252	HP:0000938	Osteopenia
ORPHA:157965	SLC39A13	91252	HP:0000926	Platyspondyly
ORPHA:157965	SLC39A13	91252	HP:0100864	Short femoral neck
ORPHA:157965	SLC39A13	91252	HP:0002652	Skeletal dysplasia
ORPHA:157965	SLC39A13	91252	HP:0000974	Hyperextensible skin
ORPHA:157965	SLC39A13	91252	HP:0003370	Flat capital femoral epiphysis
ORPHA:157965	SLC39A13	91252	HP:0000963	Thin skin
ORPHA:157965	SLC39A13	91252	HP:0000944	Abnormality of the metaphysis
ORPHA:157965	SLC39A13	91252	HP:0003393	Thenar muscle atrophy
ORPHA:157965	SLC39A13	91252	HP:0000592	Blue sclerae
ORPHA:157965	SLC39A13	91252	HP:0000978	Bruising susceptibility
OMIM:617175	RCBTB1	55213	HP:0000007	Autosomal recessive inheritance
OMIM:617175	RCBTB1	55213	HP:0002206	Pulmonary fibrosis
OMIM:617175	RCBTB1	55213	HP:0007663	Reduced visual acuity
OMIM:617175	RCBTB1	55213	HP:0000556	Retinal dystrophy
OMIM:103500	MITF	4286	HP:0007894	Hypopigmentation of the fundus
OMIM:103500	MITF	4286	HP:0000635	Blue irides
OMIM:103500	MITF	4286	HP:0007513	Generalized hypopigmentation
OMIM:103500	MITF	4286	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:103500	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:103500	MITF	4286	HP:0008527	Congenital sensorineural hearing impairment
OMIM:103500	MITF	4286	HP:0002226	White eyebrow
OMIM:103500	MITF	4286	HP:0002227	White eyelashes
OMIM:606768	DYSF	8291	HP:0002460	Distal muscle weakness
OMIM:606768	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:606768	DYSF	8291	HP:0003678	Rapidly progressive
OMIM:606768	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606768	DYSF	8291	HP:0003693	Distal amyotrophy
OMIM:607225	ALS2	57679	HP:0000020	Urinary incontinence
OMIM:607225	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:607225	ALS2	57679	HP:0001270	Motor delay
OMIM:607225	ALS2	57679	HP:0002445	Tetraplegia
OMIM:607225	ALS2	57679	HP:0003593	Infantile onset
OMIM:607225	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:607225	ALS2	57679	HP:0001258	Spastic paraplegia
OMIM:607225	ALS2	57679	HP:0001761	Pes cavus
OMIM:607225	ALS2	57679	HP:0000271	Abnormality of the face
OMIM:607225	ALS2	57679	HP:0002650	Scoliosis
OMIM:607225	ALS2	57679	HP:0003676	Progressive
OMIM:607225	ALS2	57679	HP:0000514	Slow saccadic eye movements
OMIM:607225	ALS2	57679	HP:0002492	Abnormality of the corticospinal tract
OMIM:607225	ALS2	57679	HP:0001771	Achilles tendon contracture
OMIM:607225	ALS2	57679	HP:0005216	Chewing difficulties
OMIM:607225	ALS2	57679	HP:0002425	Anarthria
OMIM:607225	ALS2	57679	HP:0001260	Dysarthria
OMIM:607225	ALS2	57679	HP:0001324	Muscle weakness
OMIM:607225	ALS2	57679	HP:0003677	Slow progression
OMIM:607225	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:607225	ALS2	57679	HP:0003487	Babinski sign
OMIM:607225	ALS2	57679	HP:0000478	Abnormality of the eye
OMIM:607225	ALS2	57679	HP:0002510	Spastic tetraplegia
OMIM:251200	MCPH1	79648	HP:0002472	Small cerebral cortex
OMIM:251200	MCPH1	79648	HP:0001250	Seizures
OMIM:251200	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:251200	MCPH1	79648	HP:0003451	Increased rate of premature chromosome condensation
OMIM:251200	MCPH1	79648	HP:0000252	Microcephaly
OMIM:251200	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:612447	ZBTB16	7704	HP:0009777	Absent thumb
OMIM:612447	ZBTB16	7704	HP:0000007	Autosomal recessive inheritance
OMIM:612447	ZBTB16	7704	HP:0004322	Short stature
OMIM:612447	ZBTB16	7704	HP:0000028	Cryptorchidism
OMIM:612447	ZBTB16	7704	HP:0003097	Short femur
OMIM:612447	ZBTB16	7704	HP:0000252	Microcephaly
OMIM:612447	ZBTB16	7704	HP:0000054	Micropenis
OMIM:612447	ZBTB16	7704	HP:0003022	Hypoplasia of the ulna
OMIM:612447	ZBTB16	7704	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:612447	ZBTB16	7704	HP:0000233	Thin vermilion border
OMIM:612447	ZBTB16	7704	HP:0003038	Fibular hypoplasia
OMIM:612447	ZBTB16	7704	HP:0002750	Delayed skeletal maturation
OMIM:612447	ZBTB16	7704	HP:0005736	Short tibia
OMIM:612447	ZBTB16	7704	HP:0005815	Supernumerary ribs
OMIM:612447	ZBTB16	7704	HP:0000160	Narrow mouth
OMIM:612447	ZBTB16	7704	HP:0000486	Strabismus
OMIM:612447	ZBTB16	7704	HP:0001249	Intellectual disability
ORPHA:79094	YY1AP1	55249	HP:0001328	Specific learning disability
ORPHA:79094	YY1AP1	55249	HP:0002659	Increased susceptibility to fractures
ORPHA:79094	YY1AP1	55249	HP:0006889	Intellectual disability, borderline
ORPHA:79094	YY1AP1	55249	HP:0000822	Hypertension
ORPHA:79094	YY1AP1	55249	HP:0001159	Syndactyly
ORPHA:79094	YY1AP1	55249	HP:0004279	Short palm
ORPHA:79094	YY1AP1	55249	HP:0100545	Arterial stenosis
ORPHA:79094	YY1AP1	55249	HP:0001659	Aortic regurgitation
OMIM:612073	SUCLA2	8803	HP:0003593	Infantile onset
OMIM:612073	SUCLA2	8803	HP:0000486	Strabismus
OMIM:612073	SUCLA2	8803	HP:0003128	Lactic acidosis
OMIM:612073	SUCLA2	8803	HP:0000508	Ptosis
OMIM:612073	SUCLA2	8803	HP:0008872	Feeding difficulties in infancy
OMIM:612073	SUCLA2	8803	HP:0000007	Autosomal recessive inheritance
OMIM:612073	SUCLA2	8803	HP:0001290	Generalized hypotonia
OMIM:612073	SUCLA2	8803	HP:0002448	Progressive encephalopathy
OMIM:612073	SUCLA2	8803	HP:0001332	Dystonia
OMIM:612073	SUCLA2	8803	HP:0000602	Ophthalmoplegia
OMIM:612073	SUCLA2	8803	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612073	SUCLA2	8803	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:612073	SUCLA2	8803	HP:0002134	Abnormality of the basal ganglia
OMIM:612073	SUCLA2	8803	HP:0002305	Athetosis
OMIM:612073	SUCLA2	8803	HP:0002059	Cerebral atrophy
OMIM:612073	SUCLA2	8803	HP:0002912	Methylmalonic acidemia
OMIM:612073	SUCLA2	8803	HP:0001263	Global developmental delay
OMIM:612073	SUCLA2	8803	HP:0001250	Seizures
OMIM:612073	SUCLA2	8803	HP:0006887	Intellectual disability, progressive
OMIM:612073	SUCLA2	8803	HP:0001508	Failure to thrive
OMIM:612073	SUCLA2	8803	HP:0000737	Irritability
OMIM:612073	SUCLA2	8803	HP:0009830	Peripheral neuropathy
OMIM:612073	SUCLA2	8803	HP:0001257	Spasticity
OMIM:612073	SUCLA2	8803	HP:0001265	Hyporeflexia
OMIM:612073	SUCLA2	8803	HP:0000407	Sensorineural hearing impairment
OMIM:612073	SUCLA2	8803	HP:0012120	Methylmalonic aciduria
OMIM:612073	SUCLA2	8803	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612073	SUCLA2	8803	HP:0002194	Delayed gross motor development
OMIM:612073	SUCLA2	8803	HP:0008945	Loss of ability to walk in early childhood
OMIM:612073	SUCLA2	8803	HP:0003355	Aminoaciduria
OMIM:612073	SUCLA2	8803	HP:0001349	Facial diplegia
OMIM:614307	AMACR	23600	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614307	AMACR	23600	HP:0000716	Depressivity
OMIM:614307	AMACR	23600	HP:0007141	Sensorimotor neuropathy
OMIM:614307	AMACR	23600	HP:0000007	Autosomal recessive inheritance
OMIM:614307	AMACR	23600	HP:0002076	Migraine
OMIM:614307	AMACR	23600	HP:0001257	Spasticity
OMIM:614307	AMACR	23600	HP:0002133	Status epilepticus
OMIM:614307	AMACR	23600	HP:0003812	Phenotypic variability
OMIM:614307	AMACR	23600	HP:0000580	Pigmentary retinopathy
OMIM:614307	AMACR	23600	HP:0000505	Visual impairment
ORPHA:776	MED12	9968	HP:0000322	Short philtrum
ORPHA:776	MED12	9968	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:776	MED12	9968	HP:0000426	Prominent nasal bridge
ORPHA:776	MED12	9968	HP:0001611	Nasal speech
ORPHA:776	MED12	9968	HP:0001631	Atrial septal defect
ORPHA:776	MED12	9968	HP:0000348	High forehead
ORPHA:776	MED12	9968	HP:0001252	Muscular hypotonia
ORPHA:776	MED12	9968	HP:0000347	Micrognathia
ORPHA:776	MED12	9968	HP:0005692	Joint hyperflexibility
ORPHA:776	MED12	9968	HP:0000275	Narrow face
ORPHA:776	MED12	9968	HP:0000767	Pectus excavatum
ORPHA:776	MED12	9968	HP:0000218	High palate
ORPHA:776	MED12	9968	HP:0000256	Macrocephaly
ORPHA:776	MED12	9968	HP:0002650	Scoliosis
ORPHA:776	MED12	9968	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:776	MED12	9968	HP:0002167	Neurological speech impairment
ORPHA:776	MED12	9968	HP:0000053	Macroorchidism
ORPHA:776	MED12	9968	HP:0001519	Disproportionate tall stature
ORPHA:776	MED12	9968	HP:0001166	Arachnodactyly
ORPHA:776	MED12	9968	HP:0000327	Hypoplasia of the maxilla
ORPHA:776	MED12	9968	HP:0001249	Intellectual disability
ORPHA:776	UPF3B	65109	HP:0000322	Short philtrum
ORPHA:776	UPF3B	65109	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:776	UPF3B	65109	HP:0000426	Prominent nasal bridge
ORPHA:776	UPF3B	65109	HP:0001611	Nasal speech
ORPHA:776	UPF3B	65109	HP:0001631	Atrial septal defect
ORPHA:776	UPF3B	65109	HP:0000348	High forehead
ORPHA:776	UPF3B	65109	HP:0001252	Muscular hypotonia
ORPHA:776	UPF3B	65109	HP:0000347	Micrognathia
ORPHA:776	UPF3B	65109	HP:0005692	Joint hyperflexibility
ORPHA:776	UPF3B	65109	HP:0000275	Narrow face
ORPHA:776	UPF3B	65109	HP:0000767	Pectus excavatum
ORPHA:776	UPF3B	65109	HP:0000218	High palate
ORPHA:776	UPF3B	65109	HP:0000256	Macrocephaly
ORPHA:776	UPF3B	65109	HP:0002650	Scoliosis
ORPHA:776	UPF3B	65109	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:776	UPF3B	65109	HP:0002167	Neurological speech impairment
ORPHA:776	UPF3B	65109	HP:0000053	Macroorchidism
ORPHA:776	UPF3B	65109	HP:0001519	Disproportionate tall stature
ORPHA:776	UPF3B	65109	HP:0001166	Arachnodactyly
ORPHA:776	UPF3B	65109	HP:0000327	Hypoplasia of the maxilla
ORPHA:776	UPF3B	65109	HP:0001249	Intellectual disability
ORPHA:776	ZDHHC9	51114	HP:0000322	Short philtrum
ORPHA:776	ZDHHC9	51114	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:776	ZDHHC9	51114	HP:0000426	Prominent nasal bridge
ORPHA:776	ZDHHC9	51114	HP:0001611	Nasal speech
ORPHA:776	ZDHHC9	51114	HP:0001631	Atrial septal defect
ORPHA:776	ZDHHC9	51114	HP:0000348	High forehead
ORPHA:776	ZDHHC9	51114	HP:0001252	Muscular hypotonia
ORPHA:776	ZDHHC9	51114	HP:0000347	Micrognathia
ORPHA:776	ZDHHC9	51114	HP:0005692	Joint hyperflexibility
ORPHA:776	ZDHHC9	51114	HP:0000275	Narrow face
ORPHA:776	ZDHHC9	51114	HP:0000767	Pectus excavatum
ORPHA:776	ZDHHC9	51114	HP:0000218	High palate
ORPHA:776	ZDHHC9	51114	HP:0000256	Macrocephaly
ORPHA:776	ZDHHC9	51114	HP:0002650	Scoliosis
ORPHA:776	ZDHHC9	51114	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:776	ZDHHC9	51114	HP:0002167	Neurological speech impairment
ORPHA:776	ZDHHC9	51114	HP:0000053	Macroorchidism
ORPHA:776	ZDHHC9	51114	HP:0001519	Disproportionate tall stature
ORPHA:776	ZDHHC9	51114	HP:0001166	Arachnodactyly
ORPHA:776	ZDHHC9	51114	HP:0000327	Hypoplasia of the maxilla
ORPHA:776	ZDHHC9	51114	HP:0001249	Intellectual disability
OMIM:306900	F9	2158	HP:0001419	X-linked recessive inheritance
OMIM:306900	F9	2158	HP:0001934	Persistent bleeding after trauma
OMIM:306900	F9	2158	HP:0003645	Prolonged partial thromboplastin time
OMIM:306900	F9	2158	HP:0011858	Reduced factor IX activity
OMIM:306900	F9	2158	HP:0005261	Joint hemorrhage
OMIM:306900	F9	2158	HP:0002758	Osteoarthritis
OMIM:306900	F9	2158	HP:0001892	Abnormal bleeding
OMIM:306900	F9	2158	HP:0002239	Gastrointestinal hemorrhage
OMIM:306900	F9	2158	HP:0005542	Prolonged whole-blood clotting time
OMIM:606394	NEUROD1	4760	HP:0004904	Maturity-onset diabetes of the young
OMIM:606394	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:613312	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:613312	ENPP1	5167	HP:0004912	Hypophosphatemic rickets
OMIM:607832	CD2AP	23607	HP:0000093	Proteinuria
OMIM:607832	CD2AP	23607	HP:0000083	Renal insufficiency
OMIM:607832	CD2AP	23607	HP:0000822	Hypertension
OMIM:607832	CD2AP	23607	HP:0000097	Focal segmental glomerulosclerosis
OMIM:607832	CD2AP	23607	HP:0000790	Hematuria
OMIM:203500	HGD	3081	HP:0001507	Growth abnormality
OMIM:203500	HGD	3081	HP:0001724	Aortic dilatation
OMIM:203500	HGD	3081	HP:0004380	Aortic valve calcification
OMIM:203500	HGD	3081	HP:0001369	Arthritis
OMIM:203500	HGD	3081	HP:0004382	Mitral valve calcification
OMIM:203500	HGD	3081	HP:0002948	Vertebral fusion
OMIM:203500	HGD	3081	HP:0003040	Arthropathy
OMIM:203500	HGD	3081	HP:0002808	Kyphosis
OMIM:203500	HGD	3081	HP:0007832	Pigmentation of the sclera
OMIM:203500	HGD	3081	HP:0008419	Intervertebral disc degeneration
OMIM:203500	HGD	3081	HP:0003418	Back pain
OMIM:203500	HGD	3081	HP:0001717	Coronary artery calcification
OMIM:203500	HGD	3081	HP:0000007	Autosomal recessive inheritance
OMIM:203500	HGD	3081	HP:0000598	Abnormality of the ear
OMIM:203500	HGD	3081	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:203500	HGD	3081	HP:0004690	Thickened Achilles tendon
OMIM:203500	HGD	3081	HP:0002829	Arthralgia
OMIM:203500	HGD	3081	HP:0000079	Abnormality of the urinary system
OMIM:616304	LRP4	4038	HP:0003577	Congenital onset
OMIM:616304	LRP4	4038	HP:0002355	Difficulty walking
OMIM:616304	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616304	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:616304	LRP4	4038	HP:0000508	Ptosis
OMIM:616304	LRP4	4038	HP:0001265	Hyporeflexia
OMIM:616202	BRF1	2972	HP:0000689	Dental malocclusion
OMIM:616202	BRF1	2972	HP:0001263	Global developmental delay
OMIM:616202	BRF1	2972	HP:0002650	Scoliosis
OMIM:616202	BRF1	2972	HP:0004322	Short stature
OMIM:616202	BRF1	2972	HP:0000675	Macrodontia of permanent maxillary central incisor
OMIM:616202	BRF1	2972	HP:0000470	Short neck
OMIM:616202	BRF1	2972	HP:0001182	Tapered finger
OMIM:616202	BRF1	2972	HP:0000535	Sparse and thin eyebrow
OMIM:616202	BRF1	2972	HP:0000007	Autosomal recessive inheritance
OMIM:616202	BRF1	2972	HP:0001249	Intellectual disability
OMIM:616202	BRF1	2972	HP:0000679	Taurodontia
OMIM:616202	BRF1	2972	HP:0001321	Cerebellar hypoplasia
OMIM:616202	BRF1	2972	HP:0002213	Fine hair
OMIM:616202	BRF1	2972	HP:0008070	Sparse hair
OMIM:616202	BRF1	2972	HP:0000369	Low-set ears
OMIM:616202	BRF1	2972	HP:0000252	Microcephaly
OMIM:616202	BRF1	2972	HP:0003593	Infantile onset
OMIM:616202	BRF1	2972	HP:0003100	Slender long bone
OMIM:308800	MBTPS2	51360	HP:0001041	Facial erythema
OMIM:308800	MBTPS2	51360	HP:0000653	Sparse eyelashes
OMIM:308800	MBTPS2	51360	HP:0000491	Keratitis
OMIM:308800	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:308800	MBTPS2	51360	HP:0001419	X-linked recessive inheritance
OMIM:308800	MBTPS2	51360	HP:0007502	Follicular hyperkeratosis
OMIM:308800	MBTPS2	51360	HP:0001425	Heterogeneous
OMIM:308800	MBTPS2	51360	HP:0025084	Folliculitis
OMIM:308800	MBTPS2	51360	HP:0000509	Conjunctivitis
OMIM:308800	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
OMIM:308800	MBTPS2	51360	HP:0000498	Blepharitis
OMIM:308800	MBTPS2	51360	HP:0000958	Dry skin
OMIM:308800	MBTPS2	51360	HP:0000613	Photophobia
OMIM:308800	MBTPS2	51360	HP:0001131	Corneal dystrophy
OMIM:308800	MBTPS2	51360	HP:0004552	Scarring alopecia of scalp
OMIM:308800	MBTPS2	51360	HP:0000656	Ectropion
OMIM:308800	MBTPS2	51360	HP:0008391	Dystrophic fingernails
OMIM:308800	MBTPS2	51360	HP:0030054	Perifollicular fibrosis
OMIM:308800	MBTPS2	51360	HP:0000535	Sparse and thin eyebrow
OMIM:308800	SAT1	6303	HP:0001041	Facial erythema
OMIM:308800	SAT1	6303	HP:0000653	Sparse eyelashes
OMIM:308800	SAT1	6303	HP:0000491	Keratitis
OMIM:308800	SAT1	6303	HP:0002164	Nail dysplasia
OMIM:308800	SAT1	6303	HP:0001419	X-linked recessive inheritance
OMIM:308800	SAT1	6303	HP:0007502	Follicular hyperkeratosis
OMIM:308800	SAT1	6303	HP:0001425	Heterogeneous
OMIM:308800	SAT1	6303	HP:0025084	Folliculitis
OMIM:308800	SAT1	6303	HP:0000509	Conjunctivitis
OMIM:308800	SAT1	6303	HP:0000982	Palmoplantar keratoderma
OMIM:308800	SAT1	6303	HP:0000498	Blepharitis
OMIM:308800	SAT1	6303	HP:0000958	Dry skin
OMIM:308800	SAT1	6303	HP:0000613	Photophobia
OMIM:308800	SAT1	6303	HP:0001131	Corneal dystrophy
OMIM:308800	SAT1	6303	HP:0004552	Scarring alopecia of scalp
OMIM:308800	SAT1	6303	HP:0000656	Ectropion
OMIM:308800	SAT1	6303	HP:0008391	Dystrophic fingernails
OMIM:308800	SAT1	6303	HP:0030054	Perifollicular fibrosis
OMIM:308800	SAT1	6303	HP:0000535	Sparse and thin eyebrow
OMIM:615745	NPPA	4878	HP:0001638	Cardiomyopathy
OMIM:615745	NPPA	4878	HP:0000007	Autosomal recessive inheritance
OMIM:615745	NPPA	4878	HP:0001662	Bradycardia
OMIM:616576	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:616576	NFKB1	4790	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	NFKB1	4790	HP:0001581	Recurrent skin infections
OMIM:616576	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:616576	NFKB1	4790	HP:0003828	Variable expressivity
OMIM:616576	NFKB1	4790	HP:0005425	Recurrent sinopulmonary infections
OMIM:616576	NFKB1	4790	HP:0000006	Autosomal dominant inheritance
ORPHA:3319	MPL	4352	HP:0004322	Short stature
ORPHA:3319	MPL	4352	HP:0000995	Melanocytic nevus
ORPHA:3319	MPL	4352	HP:0011902	Abnormal hemoglobin
ORPHA:3319	MPL	4352	HP:0000470	Short neck
ORPHA:3319	MPL	4352	HP:0002650	Scoliosis
ORPHA:3319	MPL	4352	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:3319	MPL	4352	HP:0001873	Thrombocytopenia
ORPHA:3319	MPL	4352	HP:0000280	Coarse facial features
ORPHA:3319	MPL	4352	HP:0001903	Anemia
OMIM:601414	PRPF3	9129	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF3	9129	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:601414	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF3	9129	HP:0000575	Scotoma
OMIM:212550	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:212550	SIX6	4990	HP:0000556	Retinal dystrophy
OMIM:212550	SIX6	4990	HP:0000666	Horizontal nystagmus
OMIM:212550	SIX6	4990	HP:0000568	Microphthalmia
OMIM:212550	SIX6	4990	HP:0000518	Cataract
OMIM:212550	SIX6	4990	HP:0000616	Miosis
OMIM:605249	MYH9	4627	HP:0000421	Epistaxis
OMIM:605249	MYH9	4627	HP:0001902	Giant platelets
OMIM:605249	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:605249	MYH9	4627	HP:0040235	Leukocyte inclusion bodies
OMIM:605249	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:605249	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:300455	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:300455	RPGR	6103	HP:0100750	Atelectasis
OMIM:300455	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:300455	RPGR	6103	HP:0001419	X-linked recessive inheritance
OMIM:300455	RPGR	6103	HP:0002837	Recurrent bronchitis
OMIM:300455	RPGR	6103	HP:0005376	Recurrent Haemophilus influenzae infections
OMIM:300455	RPGR	6103	HP:0005101	High-frequency hearing impairment
OMIM:300455	RPGR	6103	HP:0000388	Otitis media
ORPHA:35664	ALDH18A1	5832	HP:0005692	Joint hyperflexibility
ORPHA:35664	ALDH18A1	5832	HP:0000974	Hyperextensible skin
ORPHA:35664	ALDH18A1	5832	HP:0001249	Intellectual disability
ORPHA:35664	ALDH18A1	5832	HP:0001263	Global developmental delay
ORPHA:35664	ALDH18A1	5832	HP:0000518	Cataract
OMIM:615841	TAF4B	6875	HP:0000007	Autosomal recessive inheritance
OMIM:615841	TAF4B	6875	HP:0000027	Azoospermia
OMIM:616733	COQ7	10229	HP:0000505	Visual impairment
OMIM:616733	COQ7	10229	HP:0001290	Generalized hypotonia
OMIM:616733	COQ7	10229	HP:0005932	Abnormal renal corticomedullary differentiation
OMIM:616733	COQ7	10229	HP:0001562	Oligohydramnios
OMIM:616733	COQ7	10229	HP:0002098	Respiratory distress
OMIM:616733	COQ7	10229	HP:0001252	Muscular hypotonia
OMIM:616733	COQ7	10229	HP:0000365	Hearing impairment
OMIM:616733	COQ7	10229	HP:0008897	Postnatal growth retardation
OMIM:616733	COQ7	10229	HP:0001511	Intrauterine growth retardation
OMIM:616733	COQ7	10229	HP:0011968	Feeding difficulties
OMIM:616733	COQ7	10229	HP:0001271	Polyneuropathy
OMIM:616733	COQ7	10229	HP:0001371	Flexion contracture
OMIM:616733	COQ7	10229	HP:0001324	Muscle weakness
OMIM:616733	COQ7	10229	HP:0001263	Global developmental delay
OMIM:616733	COQ7	10229	HP:0003259	Elevated serum creatinine
OMIM:616733	COQ7	10229	HP:0001518	Small for gestational age
OMIM:616733	COQ7	10229	HP:0011096	Peripheral demyelination
OMIM:616733	COQ7	10229	HP:0003577	Congenital onset
OMIM:616733	COQ7	10229	HP:0000110	Renal dysplasia
OMIM:616733	COQ7	10229	HP:0012531	Pain
OMIM:616733	COQ7	10229	HP:0000007	Autosomal recessive inheritance
OMIM:616733	COQ7	10229	HP:0002089	Pulmonary hypoplasia
OMIM:616733	COQ7	10229	HP:0001270	Motor delay
OMIM:616199	GYG1	2992	HP:0003677	Slow progression
OMIM:616199	GYG1	2992	HP:0000007	Autosomal recessive inheritance
OMIM:616199	GYG1	2992	HP:0003828	Variable expressivity
OMIM:616199	GYG1	2992	HP:0003325	Limb-girdle muscle weakness
OMIM:616199	GYG1	2992	HP:0003202	Skeletal muscle atrophy
OMIM:132700	CYLD	1540	HP:0003581	Adult onset
OMIM:132700	CYLD	1540	HP:0008069	Neoplasm of the skin
OMIM:132700	CYLD	1540	HP:0000006	Autosomal dominant inheritance
OMIM:614226	CDON	50937	HP:0003828	Variable expressivity
OMIM:614226	CDON	50937	HP:0000520	Proptosis
OMIM:614226	CDON	50937	HP:0001263	Global developmental delay
OMIM:614226	CDON	50937	HP:0003745	Sporadic
OMIM:614226	CDON	50937	HP:0000175	Cleft palate
OMIM:614226	CDON	50937	HP:0000601	Hypotelorism
OMIM:614226	CDON	50937	HP:0001748	Polysplenia
OMIM:614226	CDON	50937	HP:0000252	Microcephaly
OMIM:614226	CDON	50937	HP:0000574	Thick eyebrow
OMIM:614226	CDON	50937	HP:0000664	Synophrys
OMIM:614226	CDON	50937	HP:0001360	Holoprosencephaly
OMIM:614226	CDON	50937	HP:0410030	Cleft lip
OMIM:614226	CDON	50937	HP:0000006	Autosomal dominant inheritance
OMIM:614226	CDON	50937	HP:0001274	Agenesis of corpus callosum
OMIM:300911	ATP6AP2	10159	HP:0001419	X-linked recessive inheritance
OMIM:300911	ATP6AP2	10159	HP:0001300	Parkinsonism
OMIM:300911	ATP6AP2	10159	HP:0002322	Resting tremor
OMIM:300911	ATP6AP2	10159	HP:0002396	Cogwheel rigidity
OMIM:300911	ATP6AP2	10159	HP:0003677	Slow progression
OMIM:300911	ATP6AP2	10159	HP:0000007	Autosomal recessive inheritance
OMIM:300911	ATP6AP2	10159	HP:0002067	Bradykinesia
OMIM:229100	FTCD	10841	HP:0003612	Positive ferric chloride test
OMIM:229100	FTCD	10841	HP:0000007	Autosomal recessive inheritance
OMIM:229100	FTCD	10841	HP:0003355	Aminoaciduria
OMIM:229100	FTCD	10841	HP:0004821	Hypersegmentation of neutrophil nuclei
OMIM:229100	FTCD	10841	HP:0001249	Intellectual disability
OMIM:229100	FTCD	10841	HP:0001889	Megaloblastic anemia
OMIM:229100	FTCD	10841	HP:0001510	Growth delay
OMIM:115310	SDHB	6390	HP:0005584	Renal cell carcinoma
OMIM:115310	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:115310	SDHB	6390	HP:0006824	Cranial nerve paralysis
OMIM:115310	SDHB	6390	HP:0002331	Recurrent paroxysmal headache
OMIM:115310	SDHB	6390	HP:0003001	Glomus jugular tumor
OMIM:115310	SDHB	6390	HP:0006748	Adrenal pheochromocytoma
OMIM:115310	SDHB	6390	HP:0000975	Hyperhidrosis
OMIM:115310	SDHB	6390	HP:0001962	Palpitations
OMIM:115310	SDHB	6390	HP:0030074	Chemodectoma
OMIM:115310	SDHB	6390	HP:0006737	Extraadrenal pheochromocytoma
OMIM:115310	SDHB	6390	HP:0002640	Hypertension associated with pheochromocytoma
OMIM:115310	SDHB	6390	HP:0011976	Elevated urinary catecholamines
OMIM:115310	SDHB	6390	HP:0001649	Tachycardia
OMIM:115310	SDHB	6390	HP:0000740	Episodic paroxysmal anxiety
OMIM:115310	SDHB	6390	HP:0008629	Pulsatile tinnitus
OMIM:115310	SDHB	6390	HP:0003581	Adult onset
OMIM:115310	SDHB	6390	HP:0003829	Incomplete penetrance
OMIM:212065	PMM2	5373	HP:0002014	Diarrhea
OMIM:212065	PMM2	5373	HP:0001371	Flexion contracture
OMIM:212065	PMM2	5373	HP:0001324	Muscle weakness
OMIM:212065	PMM2	5373	HP:0008151	Prolonged prothrombin time
OMIM:212065	PMM2	5373	HP:0000510	Rod-cone dystrophy
OMIM:212065	PMM2	5373	HP:0002910	Elevated hepatic transaminases
OMIM:212065	PMM2	5373	HP:0002720	IgA deficiency
OMIM:212065	PMM2	5373	HP:0000219	Thin upper lip vermilion
OMIM:212065	PMM2	5373	HP:0000815	Hypergonadotropic hypogonadism
OMIM:212065	PMM2	5373	HP:0008872	Feeding difficulties in infancy
OMIM:212065	PMM2	5373	HP:0000639	Nystagmus
OMIM:212065	PMM2	5373	HP:0001263	Global developmental delay
OMIM:212065	PMM2	5373	HP:0004315	IgG deficiency
OMIM:212065	PMM2	5373	HP:0001929	Reduced factor XI activity
OMIM:212065	PMM2	5373	HP:0007552	Abnormal subcutaneous fat tissue distribution
OMIM:212065	PMM2	5373	HP:0003073	Hypoalbuminemia
OMIM:212065	PMM2	5373	HP:0003146	Hypocholesterolemia
OMIM:212065	PMM2	5373	HP:0000252	Microcephaly
OMIM:212065	PMM2	5373	HP:0001894	Thrombocytosis
OMIM:212065	PMM2	5373	HP:0001976	Reduced antithrombin III activity
OMIM:212065	PMM2	5373	HP:0001290	Generalized hypotonia
OMIM:212065	PMM2	5373	HP:0001265	Hyporeflexia
OMIM:212065	PMM2	5373	HP:0001790	Nonimmune hydrops fetalis
OMIM:212065	PMM2	5373	HP:0002240	Hepatomegaly
OMIM:212065	PMM2	5373	HP:0000100	Nephrotic syndrome
OMIM:212065	PMM2	5373	HP:0001508	Failure to thrive
OMIM:212065	PMM2	5373	HP:0001638	Cardiomyopathy
OMIM:212065	PMM2	5373	HP:0001250	Seizures
OMIM:212065	PMM2	5373	HP:0005280	Depressed nasal bridge
OMIM:212065	PMM2	5373	HP:0000107	Renal cyst
OMIM:212065	PMM2	5373	HP:0000565	Esotropia
OMIM:212065	PMM2	5373	HP:0001698	Pericardial effusion
OMIM:212065	PMM2	5373	HP:0001251	Ataxia
OMIM:212065	PMM2	5373	HP:0008209	Premature ovarian insufficiency
OMIM:212065	PMM2	5373	HP:0001397	Hepatic steatosis
OMIM:212065	PMM2	5373	HP:0000093	Proteinuria
OMIM:212065	PMM2	5373	HP:0000114	Proximal tubulopathy
OMIM:212065	PMM2	5373	HP:0001271	Polyneuropathy
OMIM:212065	PMM2	5373	HP:0001395	Hepatic fibrosis
OMIM:212065	PMM2	5373	HP:0002808	Kyphosis
OMIM:212065	PMM2	5373	HP:0003645	Prolonged partial thromboplastin time
OMIM:212065	PMM2	5373	HP:0000821	Hypothyroidism
OMIM:212065	PMM2	5373	HP:0001560	Abnormality of the amniotic fluid
OMIM:212065	PMM2	5373	HP:0000007	Autosomal recessive inheritance
OMIM:212065	PMM2	5373	HP:0002013	Vomiting
OMIM:212065	PMM2	5373	HP:0002401	Stroke-like episode
OMIM:212065	PMM2	5373	HP:0006955	Olivopontocerebellar hypoplasia
OMIM:212065	PMM2	5373	HP:0000400	Macrotia
OMIM:212065	PMM2	5373	HP:0011220	Prominent forehead
OMIM:212065	PMM2	5373	HP:0003642	Type I transferrin isoform profile
OMIM:212065	PMM2	5373	HP:0003186	Inverted nipples
OMIM:212065	PMM2	5373	HP:0000938	Osteopenia
OMIM:312060	CFP	5199	HP:0001419	X-linked recessive inheritance
OMIM:312060	CFP	5199	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:312060	CFP	5199	HP:0005423	Dysfunctional alternative complement pathway
ORPHA:179	HLA-A	3105	HP:0011531	Vitritis
ORPHA:179	HLA-A	3105	HP:0030644	Blind-spot enlargment
ORPHA:179	HLA-A	3105	HP:0000613	Photophobia
ORPHA:179	HLA-A	3105	HP:0100533	Inflammatory abnormality of the eye
ORPHA:179	HLA-A	3105	HP:0030329	Retinal thinning
ORPHA:179	HLA-A	3105	HP:0007843	Attenuation of retinal blood vessels
ORPHA:179	HLA-A	3105	HP:0100014	Epiretinal membrane
ORPHA:179	HLA-A	3105	HP:0100832	Vitreous floaters
ORPHA:179	HLA-A	3105	HP:0200056	Macular scar
ORPHA:179	HLA-A	3105	HP:0000622	Blurred vision
ORPHA:179	HLA-A	3105	HP:0007906	Increased intraocular pressure
ORPHA:179	HLA-A	3105	HP:0000572	Visual loss
ORPHA:179	HLA-A	3105	HP:0030609	Photoreceptor layer loss on macular OCT
ORPHA:179	HLA-A	3105	HP:0000543	Optic disc pallor
ORPHA:179	HLA-A	3105	HP:0011505	Cystoid macular edema
ORPHA:179	HLA-A	3105	HP:0011508	Macular hole
ORPHA:179	HLA-A	3105	HP:0000518	Cataract
ORPHA:179	HLA-A	3105	HP:0000532	Chorioretinal abnormality
OMIM:616248	ZBTB42	100128927	HP:0000256	Macrocephaly
OMIM:616248	ZBTB42	100128927	HP:0001558	Decreased fetal movement
OMIM:616248	ZBTB42	100128927	HP:0002803	Congenital contracture
OMIM:616248	ZBTB42	100128927	HP:0000007	Autosomal recessive inheritance
OMIM:219750	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219750	CTNS	1497	HP:0000531	Corneal crystals
OMIM:219750	CTNS	1497	HP:0000613	Photophobia
OMIM:220150	SLC22A12	116085	HP:0000791	Uric acid nephrolithiasis
OMIM:220150	SLC22A12	116085	HP:0000007	Autosomal recessive inheritance
OMIM:220150	SLC22A12	116085	HP:0001919	Acute kidney injury
OMIM:220150	SLC22A12	116085	HP:0003537	Hypouricemia
OMIM:220150	SLC22A12	116085	HP:0012611	Increased urinary urate
OMIM:612645	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GJB6	10804	HP:0000365	Hearing impairment
OMIM:609340	DDHD1	80821	HP:0000007	Autosomal recessive inheritance
OMIM:609340	DDHD1	80821	HP:0002061	Lower limb spasticity
OMIM:609340	DDHD1	80821	HP:0007340	Lower limb muscle weakness
OMIM:609340	DDHD1	80821	HP:0002650	Scoliosis
OMIM:609340	DDHD1	80821	HP:0003621	Juvenile onset
OMIM:609340	DDHD1	80821	HP:0001258	Spastic paraplegia
OMIM:609340	DDHD1	80821	HP:0002355	Difficulty walking
OMIM:609340	DDHD1	80821	HP:0003677	Slow progression
OMIM:609340	DDHD1	80821	HP:0001347	Hyperreflexia
OMIM:609340	DDHD1	80821	HP:0001761	Pes cavus
OMIM:609340	DDHD1	80821	HP:0002936	Distal sensory impairment
OMIM:609340	DDHD1	80821	HP:0003487	Babinski sign
OMIM:602088	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:602088	INVS	27130	HP:0002878	Respiratory failure
OMIM:602088	INVS	27130	HP:0005564	Absence of renal corticomedullary differentiation
OMIM:602088	INVS	27130	HP:0005976	Hyperkalemic metabolic acidosis
OMIM:602088	INVS	27130	HP:0002089	Pulmonary hypoplasia
OMIM:602088	INVS	27130	HP:0001562	Oligohydramnios
OMIM:602088	INVS	27130	HP:0000105	Enlarged kidney
OMIM:602088	INVS	27130	HP:0004734	Renal cortical microcysts
OMIM:602088	INVS	27130	HP:0004743	Chronic tubulointerstitial nephritis
OMIM:602088	INVS	27130	HP:0002153	Hyperkalemia
OMIM:602088	INVS	27130	HP:0000090	Nephronophthisis
OMIM:602088	INVS	27130	HP:0010444	Pulmonary insufficiency
OMIM:602088	INVS	27130	HP:0004719	Hyperechogenic kidneys
OMIM:602088	INVS	27130	HP:0000822	Hypertension
OMIM:602088	INVS	27130	HP:0003259	Elevated serum creatinine
OMIM:602088	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:182170	HSPA9	3313	HP:0001924	Sideroblastic anemia
OMIM:182170	HSPA9	3313	HP:0000006	Autosomal dominant inheritance
OMIM:231550	AAAS	8086	HP:0007002	Motor axonal neuropathy
OMIM:231550	AAAS	8086	HP:0009916	Anisocoria
OMIM:231550	AAAS	8086	HP:0000522	Alacrima
OMIM:231550	AAAS	8086	HP:0000972	Palmoplantar hyperkeratosis
OMIM:231550	AAAS	8086	HP:0001263	Global developmental delay
OMIM:231550	AAAS	8086	HP:0008259	Adrenocorticotropin receptor defect
OMIM:231550	AAAS	8086	HP:0001347	Hyperreflexia
OMIM:231550	AAAS	8086	HP:0001260	Dysarthria
OMIM:231550	AAAS	8086	HP:0000007	Autosomal recessive inheritance
OMIM:231550	AAAS	8086	HP:0000648	Optic atrophy
OMIM:231550	AAAS	8086	HP:0000953	Hyperpigmentation of the skin
OMIM:231550	AAAS	8086	HP:0000252	Microcephaly
OMIM:231550	AAAS	8086	HP:0008163	Decreased circulating cortisol level
OMIM:231550	AAAS	8086	HP:0001249	Intellectual disability
OMIM:231550	AAAS	8086	HP:0001251	Ataxia
OMIM:231550	AAAS	8086	HP:0002571	Achalasia
OMIM:231550	AAAS	8086	HP:0000649	Abnormality of visual evoked potentials
OMIM:231550	AAAS	8086	HP:0003487	Babinski sign
OMIM:231550	AAAS	8086	HP:0004319	Decreased circulating aldosterone level
OMIM:231550	AAAS	8086	HP:0001324	Muscle weakness
OMIM:231550	AAAS	8086	HP:0002459	Dysautonomia
OMIM:231550	AAAS	8086	HP:0004322	Short stature
OMIM:231550	AAAS	8086	HP:0001278	Orthostatic hypotension
OMIM:231550	AAAS	8086	HP:0011463	Childhood onset
OMIM:231550	AAAS	8086	HP:0003676	Progressive
OMIM:617304	REEP6	92840	HP:0007663	Reduced visual acuity
OMIM:617304	REEP6	92840	HP:0007787	Posterior subcapsular cataract
OMIM:617304	REEP6	92840	HP:0000007	Autosomal recessive inheritance
OMIM:617304	REEP6	92840	HP:0000662	Nyctalopia
OMIM:614592	FGFR2	2263	HP:0000212	Gingival overgrowth
OMIM:614592	FGFR2	2263	HP:0001156	Brachydactyly
OMIM:614592	FGFR2	2263	HP:0001007	Hirsutism
OMIM:614592	FGFR2	2263	HP:0011800	Midface retrusion
OMIM:614592	FGFR2	2263	HP:0000894	Short clavicles
OMIM:614592	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:614592	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:614592	FGFR2	2263	HP:0000272	Malar flattening
OMIM:614592	FGFR2	2263	HP:0008665	Clitoral hypertrophy
OMIM:614592	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:614592	FGFR2	2263	HP:0001591	Bell-shaped thorax
OMIM:614592	FGFR2	2263	HP:0000347	Micrognathia
OMIM:614592	FGFR2	2263	HP:0000369	Low-set ears
ORPHA:3175	ARX	170302	HP:0002301	Hemiplegia
ORPHA:3175	ARX	170302	HP:0001249	Intellectual disability
ORPHA:3175	ARX	170302	HP:0002063	Rigidity
ORPHA:3175	ARX	170302	HP:0001257	Spasticity
ORPHA:3175	ARX	170302	HP:0002133	Status epilepticus
ORPHA:3175	ARX	170302	HP:0003552	Muscle stiffness
OMIM:616045	ATP5A1	498	HP:0001508	Failure to thrive
OMIM:616045	ATP5A1	498	HP:0001511	Intrauterine growth retardation
OMIM:616045	ATP5A1	498	HP:0003577	Congenital onset
OMIM:616045	ATP5A1	498	HP:0001290	Generalized hypotonia
OMIM:616045	ATP5A1	498	HP:0001298	Encephalopathy
OMIM:616045	ATP5A1	498	HP:0001635	Congestive heart failure
OMIM:616045	ATP5A1	498	HP:0001250	Seizures
OMIM:616045	ATP5A1	498	HP:0002092	Pulmonary arterial hypertension
OMIM:616045	ATP5A1	498	HP:0003348	Hyperalaninemia
OMIM:616045	ATP5A1	498	HP:0000007	Autosomal recessive inheritance
OMIM:616045	ATP5A1	498	HP:0000252	Microcephaly
ORPHA:411590	WFS1	7466	HP:0000026	Male hypogonadism
ORPHA:411590	WFS1	7466	HP:0000819	Diabetes mellitus
ORPHA:411590	WFS1	7466	HP:0002579	Gastrointestinal dysmotility
ORPHA:411590	WFS1	7466	HP:0010935	Abnormality of the upper urinary tract
ORPHA:411590	WFS1	7466	HP:0000823	Delayed puberty
ORPHA:411590	WFS1	7466	HP:0000501	Glaucoma
ORPHA:411590	WFS1	7466	HP:0000863	Central diabetes insipidus
ORPHA:411590	WFS1	7466	HP:0000729	Autistic behavior
ORPHA:411590	WFS1	7466	HP:0000709	Psychosis
ORPHA:411590	WFS1	7466	HP:0008193	Primary gonadal insufficiency
ORPHA:411590	WFS1	7466	HP:0008527	Congenital sensorineural hearing impairment
ORPHA:411590	WFS1	7466	HP:0000377	Abnormality of the pinna
ORPHA:411590	WFS1	7466	HP:0002073	Progressive cerebellar ataxia
ORPHA:411590	WFS1	7466	HP:0000726	Dementia
ORPHA:411590	WFS1	7466	HP:0000648	Optic atrophy
ORPHA:411590	WFS1	7466	HP:0003477	Peripheral axonal neuropathy
ORPHA:411590	WFS1	7466	HP:0000716	Depressivity
ORPHA:411590	WFS1	7466	HP:0000739	Anxiety
ORPHA:411590	WFS1	7466	HP:0000833	Glucose intolerance
ORPHA:432	PROK2	60675	HP:0000134	Female hypogonadism
ORPHA:432	PROK2	60675	HP:0000028	Cryptorchidism
ORPHA:432	PROK2	60675	HP:0003782	Eunuchoid habitus
ORPHA:432	PROK2	60675	HP:0000739	Anxiety
ORPHA:432	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	PROK2	60675	HP:0001608	Abnormality of the voice
ORPHA:432	PROK2	60675	HP:0000716	Depressivity
ORPHA:432	PROK2	60675	HP:0008230	Decreased testosterone in males
ORPHA:432	PROK2	60675	HP:0000786	Primary amenorrhea
ORPHA:432	PROK2	60675	HP:0000026	Male hypogonadism
ORPHA:432	PROK2	60675	HP:0000938	Osteopenia
ORPHA:432	PROK2	60675	HP:0006610	Wide intermamillary distance
ORPHA:432	PROK2	60675	HP:0011961	Non-obstructive azoospermia
ORPHA:432	PROK2	60675	HP:0008197	Absence of pubertal development
ORPHA:432	PROK2	60675	HP:0000802	Impotence
ORPHA:432	PROK2	60675	HP:0008734	Decreased testicular size
ORPHA:432	PROK2	60675	HP:0030019	Increased female libido
ORPHA:432	PROK2	60675	HP:0000939	Osteoporosis
ORPHA:432	PROK2	60675	HP:0000771	Gynecomastia
ORPHA:432	PROK2	60675	HP:0000013	Hypoplasia of the uterus
ORPHA:432	PROK2	60675	HP:0002231	Sparse body hair
ORPHA:432	PROK2	60675	HP:0000823	Delayed puberty
ORPHA:432	PROK2	60675	HP:0000054	Micropenis
ORPHA:432	PROK2	60675	HP:0002750	Delayed skeletal maturation
ORPHA:432	PROK2	60675	HP:0003187	Breast hypoplasia
ORPHA:432	PROK2	60675	HP:0000869	Secondary amenorrhea
ORPHA:432	PROK2	60675	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	PROK2	60675	HP:0000002	Abnormality of body height
ORPHA:432	PROK2	60675	HP:0008724	Hypoplasia of the ovary
ORPHA:432	PROKR2	128674	HP:0000134	Female hypogonadism
ORPHA:432	PROKR2	128674	HP:0000028	Cryptorchidism
ORPHA:432	PROKR2	128674	HP:0003782	Eunuchoid habitus
ORPHA:432	PROKR2	128674	HP:0000739	Anxiety
ORPHA:432	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	PROKR2	128674	HP:0001608	Abnormality of the voice
ORPHA:432	PROKR2	128674	HP:0000716	Depressivity
ORPHA:432	PROKR2	128674	HP:0008230	Decreased testosterone in males
ORPHA:432	PROKR2	128674	HP:0000786	Primary amenorrhea
ORPHA:432	PROKR2	128674	HP:0000026	Male hypogonadism
ORPHA:432	PROKR2	128674	HP:0000938	Osteopenia
ORPHA:432	PROKR2	128674	HP:0006610	Wide intermamillary distance
ORPHA:432	PROKR2	128674	HP:0011961	Non-obstructive azoospermia
ORPHA:432	PROKR2	128674	HP:0008197	Absence of pubertal development
ORPHA:432	PROKR2	128674	HP:0000802	Impotence
ORPHA:432	PROKR2	128674	HP:0008734	Decreased testicular size
ORPHA:432	PROKR2	128674	HP:0030019	Increased female libido
ORPHA:432	PROKR2	128674	HP:0000939	Osteoporosis
ORPHA:432	PROKR2	128674	HP:0000771	Gynecomastia
ORPHA:432	PROKR2	128674	HP:0000013	Hypoplasia of the uterus
ORPHA:432	PROKR2	128674	HP:0002231	Sparse body hair
ORPHA:432	PROKR2	128674	HP:0000823	Delayed puberty
ORPHA:432	PROKR2	128674	HP:0000054	Micropenis
ORPHA:432	PROKR2	128674	HP:0002750	Delayed skeletal maturation
ORPHA:432	PROKR2	128674	HP:0003187	Breast hypoplasia
ORPHA:432	PROKR2	128674	HP:0000869	Secondary amenorrhea
ORPHA:432	PROKR2	128674	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	PROKR2	128674	HP:0000002	Abnormality of body height
ORPHA:432	PROKR2	128674	HP:0008724	Hypoplasia of the ovary
ORPHA:432	WDR11	55717	HP:0000134	Female hypogonadism
ORPHA:432	WDR11	55717	HP:0000028	Cryptorchidism
ORPHA:432	WDR11	55717	HP:0003782	Eunuchoid habitus
ORPHA:432	WDR11	55717	HP:0000739	Anxiety
ORPHA:432	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	WDR11	55717	HP:0001608	Abnormality of the voice
ORPHA:432	WDR11	55717	HP:0000716	Depressivity
ORPHA:432	WDR11	55717	HP:0008230	Decreased testosterone in males
ORPHA:432	WDR11	55717	HP:0000786	Primary amenorrhea
ORPHA:432	WDR11	55717	HP:0000026	Male hypogonadism
ORPHA:432	WDR11	55717	HP:0000938	Osteopenia
ORPHA:432	WDR11	55717	HP:0006610	Wide intermamillary distance
ORPHA:432	WDR11	55717	HP:0011961	Non-obstructive azoospermia
ORPHA:432	WDR11	55717	HP:0008197	Absence of pubertal development
ORPHA:432	WDR11	55717	HP:0000802	Impotence
ORPHA:432	WDR11	55717	HP:0008734	Decreased testicular size
ORPHA:432	WDR11	55717	HP:0030019	Increased female libido
ORPHA:432	WDR11	55717	HP:0000939	Osteoporosis
ORPHA:432	WDR11	55717	HP:0000771	Gynecomastia
ORPHA:432	WDR11	55717	HP:0000013	Hypoplasia of the uterus
ORPHA:432	WDR11	55717	HP:0002231	Sparse body hair
ORPHA:432	WDR11	55717	HP:0000823	Delayed puberty
ORPHA:432	WDR11	55717	HP:0000054	Micropenis
ORPHA:432	WDR11	55717	HP:0002750	Delayed skeletal maturation
ORPHA:432	WDR11	55717	HP:0003187	Breast hypoplasia
ORPHA:432	WDR11	55717	HP:0000869	Secondary amenorrhea
ORPHA:432	WDR11	55717	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	WDR11	55717	HP:0000002	Abnormality of body height
ORPHA:432	WDR11	55717	HP:0008724	Hypoplasia of the ovary
ORPHA:432	KISS1	3814	HP:0000134	Female hypogonadism
ORPHA:432	KISS1	3814	HP:0000028	Cryptorchidism
ORPHA:432	KISS1	3814	HP:0003782	Eunuchoid habitus
ORPHA:432	KISS1	3814	HP:0000739	Anxiety
ORPHA:432	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	KISS1	3814	HP:0001608	Abnormality of the voice
ORPHA:432	KISS1	3814	HP:0000716	Depressivity
ORPHA:432	KISS1	3814	HP:0008230	Decreased testosterone in males
ORPHA:432	KISS1	3814	HP:0000786	Primary amenorrhea
ORPHA:432	KISS1	3814	HP:0000026	Male hypogonadism
ORPHA:432	KISS1	3814	HP:0000938	Osteopenia
ORPHA:432	KISS1	3814	HP:0006610	Wide intermamillary distance
ORPHA:432	KISS1	3814	HP:0011961	Non-obstructive azoospermia
ORPHA:432	KISS1	3814	HP:0008197	Absence of pubertal development
ORPHA:432	KISS1	3814	HP:0000802	Impotence
ORPHA:432	KISS1	3814	HP:0008734	Decreased testicular size
ORPHA:432	KISS1	3814	HP:0030019	Increased female libido
ORPHA:432	KISS1	3814	HP:0000939	Osteoporosis
ORPHA:432	KISS1	3814	HP:0000771	Gynecomastia
ORPHA:432	KISS1	3814	HP:0000013	Hypoplasia of the uterus
ORPHA:432	KISS1	3814	HP:0002231	Sparse body hair
ORPHA:432	KISS1	3814	HP:0000823	Delayed puberty
ORPHA:432	KISS1	3814	HP:0000054	Micropenis
ORPHA:432	KISS1	3814	HP:0002750	Delayed skeletal maturation
ORPHA:432	KISS1	3814	HP:0003187	Breast hypoplasia
ORPHA:432	KISS1	3814	HP:0000869	Secondary amenorrhea
ORPHA:432	KISS1	3814	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	KISS1	3814	HP:0000002	Abnormality of body height
ORPHA:432	KISS1	3814	HP:0008724	Hypoplasia of the ovary
ORPHA:432	GNRH1	2796	HP:0000134	Female hypogonadism
ORPHA:432	GNRH1	2796	HP:0000028	Cryptorchidism
ORPHA:432	GNRH1	2796	HP:0003782	Eunuchoid habitus
ORPHA:432	GNRH1	2796	HP:0000739	Anxiety
ORPHA:432	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	GNRH1	2796	HP:0001608	Abnormality of the voice
ORPHA:432	GNRH1	2796	HP:0000716	Depressivity
ORPHA:432	GNRH1	2796	HP:0008230	Decreased testosterone in males
ORPHA:432	GNRH1	2796	HP:0000786	Primary amenorrhea
ORPHA:432	GNRH1	2796	HP:0000026	Male hypogonadism
ORPHA:432	GNRH1	2796	HP:0000938	Osteopenia
ORPHA:432	GNRH1	2796	HP:0006610	Wide intermamillary distance
ORPHA:432	GNRH1	2796	HP:0011961	Non-obstructive azoospermia
ORPHA:432	GNRH1	2796	HP:0008197	Absence of pubertal development
ORPHA:432	GNRH1	2796	HP:0000802	Impotence
ORPHA:432	GNRH1	2796	HP:0008734	Decreased testicular size
ORPHA:432	GNRH1	2796	HP:0030019	Increased female libido
ORPHA:432	GNRH1	2796	HP:0000939	Osteoporosis
ORPHA:432	GNRH1	2796	HP:0000771	Gynecomastia
ORPHA:432	GNRH1	2796	HP:0000013	Hypoplasia of the uterus
ORPHA:432	GNRH1	2796	HP:0002231	Sparse body hair
ORPHA:432	GNRH1	2796	HP:0000823	Delayed puberty
ORPHA:432	GNRH1	2796	HP:0000054	Micropenis
ORPHA:432	GNRH1	2796	HP:0002750	Delayed skeletal maturation
ORPHA:432	GNRH1	2796	HP:0003187	Breast hypoplasia
ORPHA:432	GNRH1	2796	HP:0000869	Secondary amenorrhea
ORPHA:432	GNRH1	2796	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	GNRH1	2796	HP:0000002	Abnormality of body height
ORPHA:432	GNRH1	2796	HP:0008724	Hypoplasia of the ovary
ORPHA:432	FGF8	2253	HP:0000134	Female hypogonadism
ORPHA:432	FGF8	2253	HP:0000028	Cryptorchidism
ORPHA:432	FGF8	2253	HP:0003782	Eunuchoid habitus
ORPHA:432	FGF8	2253	HP:0000739	Anxiety
ORPHA:432	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	FGF8	2253	HP:0001608	Abnormality of the voice
ORPHA:432	FGF8	2253	HP:0000716	Depressivity
ORPHA:432	FGF8	2253	HP:0008230	Decreased testosterone in males
ORPHA:432	FGF8	2253	HP:0000786	Primary amenorrhea
ORPHA:432	FGF8	2253	HP:0000026	Male hypogonadism
ORPHA:432	FGF8	2253	HP:0000938	Osteopenia
ORPHA:432	FGF8	2253	HP:0006610	Wide intermamillary distance
ORPHA:432	FGF8	2253	HP:0011961	Non-obstructive azoospermia
ORPHA:432	FGF8	2253	HP:0008197	Absence of pubertal development
ORPHA:432	FGF8	2253	HP:0000802	Impotence
ORPHA:432	FGF8	2253	HP:0008734	Decreased testicular size
ORPHA:432	FGF8	2253	HP:0030019	Increased female libido
ORPHA:432	FGF8	2253	HP:0000939	Osteoporosis
ORPHA:432	FGF8	2253	HP:0000771	Gynecomastia
ORPHA:432	FGF8	2253	HP:0000013	Hypoplasia of the uterus
ORPHA:432	FGF8	2253	HP:0002231	Sparse body hair
ORPHA:432	FGF8	2253	HP:0000823	Delayed puberty
ORPHA:432	FGF8	2253	HP:0000054	Micropenis
ORPHA:432	FGF8	2253	HP:0002750	Delayed skeletal maturation
ORPHA:432	FGF8	2253	HP:0003187	Breast hypoplasia
ORPHA:432	FGF8	2253	HP:0000869	Secondary amenorrhea
ORPHA:432	FGF8	2253	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	FGF8	2253	HP:0000002	Abnormality of body height
ORPHA:432	FGF8	2253	HP:0008724	Hypoplasia of the ovary
ORPHA:432	GNRHR	2798	HP:0000134	Female hypogonadism
ORPHA:432	GNRHR	2798	HP:0000028	Cryptorchidism
ORPHA:432	GNRHR	2798	HP:0003782	Eunuchoid habitus
ORPHA:432	GNRHR	2798	HP:0000739	Anxiety
ORPHA:432	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	GNRHR	2798	HP:0001608	Abnormality of the voice
ORPHA:432	GNRHR	2798	HP:0000716	Depressivity
ORPHA:432	GNRHR	2798	HP:0008230	Decreased testosterone in males
ORPHA:432	GNRHR	2798	HP:0000786	Primary amenorrhea
ORPHA:432	GNRHR	2798	HP:0000026	Male hypogonadism
ORPHA:432	GNRHR	2798	HP:0000938	Osteopenia
ORPHA:432	GNRHR	2798	HP:0006610	Wide intermamillary distance
ORPHA:432	GNRHR	2798	HP:0011961	Non-obstructive azoospermia
ORPHA:432	GNRHR	2798	HP:0008197	Absence of pubertal development
ORPHA:432	GNRHR	2798	HP:0000802	Impotence
ORPHA:432	GNRHR	2798	HP:0008734	Decreased testicular size
ORPHA:432	GNRHR	2798	HP:0030019	Increased female libido
ORPHA:432	GNRHR	2798	HP:0000939	Osteoporosis
ORPHA:432	GNRHR	2798	HP:0000771	Gynecomastia
ORPHA:432	GNRHR	2798	HP:0000013	Hypoplasia of the uterus
ORPHA:432	GNRHR	2798	HP:0002231	Sparse body hair
ORPHA:432	GNRHR	2798	HP:0000823	Delayed puberty
ORPHA:432	GNRHR	2798	HP:0000054	Micropenis
ORPHA:432	GNRHR	2798	HP:0002750	Delayed skeletal maturation
ORPHA:432	GNRHR	2798	HP:0003187	Breast hypoplasia
ORPHA:432	GNRHR	2798	HP:0000869	Secondary amenorrhea
ORPHA:432	GNRHR	2798	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	GNRHR	2798	HP:0000002	Abnormality of body height
ORPHA:432	GNRHR	2798	HP:0008724	Hypoplasia of the ovary
ORPHA:432	ANOS1	3730	HP:0000134	Female hypogonadism
ORPHA:432	ANOS1	3730	HP:0000028	Cryptorchidism
ORPHA:432	ANOS1	3730	HP:0003782	Eunuchoid habitus
ORPHA:432	ANOS1	3730	HP:0000739	Anxiety
ORPHA:432	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	ANOS1	3730	HP:0001608	Abnormality of the voice
ORPHA:432	ANOS1	3730	HP:0000716	Depressivity
ORPHA:432	ANOS1	3730	HP:0008230	Decreased testosterone in males
ORPHA:432	ANOS1	3730	HP:0000786	Primary amenorrhea
ORPHA:432	ANOS1	3730	HP:0000026	Male hypogonadism
ORPHA:432	ANOS1	3730	HP:0000938	Osteopenia
ORPHA:432	ANOS1	3730	HP:0006610	Wide intermamillary distance
ORPHA:432	ANOS1	3730	HP:0011961	Non-obstructive azoospermia
ORPHA:432	ANOS1	3730	HP:0008197	Absence of pubertal development
ORPHA:432	ANOS1	3730	HP:0000802	Impotence
ORPHA:432	ANOS1	3730	HP:0008734	Decreased testicular size
ORPHA:432	ANOS1	3730	HP:0030019	Increased female libido
ORPHA:432	ANOS1	3730	HP:0000939	Osteoporosis
ORPHA:432	ANOS1	3730	HP:0000771	Gynecomastia
ORPHA:432	ANOS1	3730	HP:0000013	Hypoplasia of the uterus
ORPHA:432	ANOS1	3730	HP:0002231	Sparse body hair
ORPHA:432	ANOS1	3730	HP:0000823	Delayed puberty
ORPHA:432	ANOS1	3730	HP:0000054	Micropenis
ORPHA:432	ANOS1	3730	HP:0002750	Delayed skeletal maturation
ORPHA:432	ANOS1	3730	HP:0003187	Breast hypoplasia
ORPHA:432	ANOS1	3730	HP:0000869	Secondary amenorrhea
ORPHA:432	ANOS1	3730	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	ANOS1	3730	HP:0000002	Abnormality of body height
ORPHA:432	ANOS1	3730	HP:0008724	Hypoplasia of the ovary
ORPHA:432	TAC3	6866	HP:0000134	Female hypogonadism
ORPHA:432	TAC3	6866	HP:0000028	Cryptorchidism
ORPHA:432	TAC3	6866	HP:0003782	Eunuchoid habitus
ORPHA:432	TAC3	6866	HP:0000739	Anxiety
ORPHA:432	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	TAC3	6866	HP:0001608	Abnormality of the voice
ORPHA:432	TAC3	6866	HP:0000716	Depressivity
ORPHA:432	TAC3	6866	HP:0008230	Decreased testosterone in males
ORPHA:432	TAC3	6866	HP:0000786	Primary amenorrhea
ORPHA:432	TAC3	6866	HP:0000026	Male hypogonadism
ORPHA:432	TAC3	6866	HP:0000938	Osteopenia
ORPHA:432	TAC3	6866	HP:0006610	Wide intermamillary distance
ORPHA:432	TAC3	6866	HP:0011961	Non-obstructive azoospermia
ORPHA:432	TAC3	6866	HP:0008197	Absence of pubertal development
ORPHA:432	TAC3	6866	HP:0000802	Impotence
ORPHA:432	TAC3	6866	HP:0008734	Decreased testicular size
ORPHA:432	TAC3	6866	HP:0030019	Increased female libido
ORPHA:432	TAC3	6866	HP:0000939	Osteoporosis
ORPHA:432	TAC3	6866	HP:0000771	Gynecomastia
ORPHA:432	TAC3	6866	HP:0000013	Hypoplasia of the uterus
ORPHA:432	TAC3	6866	HP:0002231	Sparse body hair
ORPHA:432	TAC3	6866	HP:0000823	Delayed puberty
ORPHA:432	TAC3	6866	HP:0000054	Micropenis
ORPHA:432	TAC3	6866	HP:0002750	Delayed skeletal maturation
ORPHA:432	TAC3	6866	HP:0003187	Breast hypoplasia
ORPHA:432	TAC3	6866	HP:0000869	Secondary amenorrhea
ORPHA:432	TAC3	6866	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	TAC3	6866	HP:0000002	Abnormality of body height
ORPHA:432	TAC3	6866	HP:0008724	Hypoplasia of the ovary
ORPHA:432	HS6ST1	9394	HP:0000134	Female hypogonadism
ORPHA:432	HS6ST1	9394	HP:0000028	Cryptorchidism
ORPHA:432	HS6ST1	9394	HP:0003782	Eunuchoid habitus
ORPHA:432	HS6ST1	9394	HP:0000739	Anxiety
ORPHA:432	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	HS6ST1	9394	HP:0001608	Abnormality of the voice
ORPHA:432	HS6ST1	9394	HP:0000716	Depressivity
ORPHA:432	HS6ST1	9394	HP:0008230	Decreased testosterone in males
ORPHA:432	HS6ST1	9394	HP:0000786	Primary amenorrhea
ORPHA:432	HS6ST1	9394	HP:0000026	Male hypogonadism
ORPHA:432	HS6ST1	9394	HP:0000938	Osteopenia
ORPHA:432	HS6ST1	9394	HP:0006610	Wide intermamillary distance
ORPHA:432	HS6ST1	9394	HP:0011961	Non-obstructive azoospermia
ORPHA:432	HS6ST1	9394	HP:0008197	Absence of pubertal development
ORPHA:432	HS6ST1	9394	HP:0000802	Impotence
ORPHA:432	HS6ST1	9394	HP:0008734	Decreased testicular size
ORPHA:432	HS6ST1	9394	HP:0030019	Increased female libido
ORPHA:432	HS6ST1	9394	HP:0000939	Osteoporosis
ORPHA:432	HS6ST1	9394	HP:0000771	Gynecomastia
ORPHA:432	HS6ST1	9394	HP:0000013	Hypoplasia of the uterus
ORPHA:432	HS6ST1	9394	HP:0002231	Sparse body hair
ORPHA:432	HS6ST1	9394	HP:0000823	Delayed puberty
ORPHA:432	HS6ST1	9394	HP:0000054	Micropenis
ORPHA:432	HS6ST1	9394	HP:0002750	Delayed skeletal maturation
ORPHA:432	HS6ST1	9394	HP:0003187	Breast hypoplasia
ORPHA:432	HS6ST1	9394	HP:0000869	Secondary amenorrhea
ORPHA:432	HS6ST1	9394	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	HS6ST1	9394	HP:0000002	Abnormality of body height
ORPHA:432	HS6ST1	9394	HP:0008724	Hypoplasia of the ovary
ORPHA:432	CHD7	55636	HP:0000134	Female hypogonadism
ORPHA:432	CHD7	55636	HP:0000028	Cryptorchidism
ORPHA:432	CHD7	55636	HP:0003782	Eunuchoid habitus
ORPHA:432	CHD7	55636	HP:0000739	Anxiety
ORPHA:432	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	CHD7	55636	HP:0001608	Abnormality of the voice
ORPHA:432	CHD7	55636	HP:0000716	Depressivity
ORPHA:432	CHD7	55636	HP:0008230	Decreased testosterone in males
ORPHA:432	CHD7	55636	HP:0000786	Primary amenorrhea
ORPHA:432	CHD7	55636	HP:0000026	Male hypogonadism
ORPHA:432	CHD7	55636	HP:0000938	Osteopenia
ORPHA:432	CHD7	55636	HP:0006610	Wide intermamillary distance
ORPHA:432	CHD7	55636	HP:0011961	Non-obstructive azoospermia
ORPHA:432	CHD7	55636	HP:0008197	Absence of pubertal development
ORPHA:432	CHD7	55636	HP:0000802	Impotence
ORPHA:432	CHD7	55636	HP:0008734	Decreased testicular size
ORPHA:432	CHD7	55636	HP:0030019	Increased female libido
ORPHA:432	CHD7	55636	HP:0000939	Osteoporosis
ORPHA:432	CHD7	55636	HP:0000771	Gynecomastia
ORPHA:432	CHD7	55636	HP:0000013	Hypoplasia of the uterus
ORPHA:432	CHD7	55636	HP:0002231	Sparse body hair
ORPHA:432	CHD7	55636	HP:0000823	Delayed puberty
ORPHA:432	CHD7	55636	HP:0000054	Micropenis
ORPHA:432	CHD7	55636	HP:0002750	Delayed skeletal maturation
ORPHA:432	CHD7	55636	HP:0003187	Breast hypoplasia
ORPHA:432	CHD7	55636	HP:0000869	Secondary amenorrhea
ORPHA:432	CHD7	55636	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	CHD7	55636	HP:0000002	Abnormality of body height
ORPHA:432	CHD7	55636	HP:0008724	Hypoplasia of the ovary
ORPHA:432	FGFR1	2260	HP:0000134	Female hypogonadism
ORPHA:432	FGFR1	2260	HP:0000028	Cryptorchidism
ORPHA:432	FGFR1	2260	HP:0003782	Eunuchoid habitus
ORPHA:432	FGFR1	2260	HP:0000739	Anxiety
ORPHA:432	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	FGFR1	2260	HP:0001608	Abnormality of the voice
ORPHA:432	FGFR1	2260	HP:0000716	Depressivity
ORPHA:432	FGFR1	2260	HP:0008230	Decreased testosterone in males
ORPHA:432	FGFR1	2260	HP:0000786	Primary amenorrhea
ORPHA:432	FGFR1	2260	HP:0000026	Male hypogonadism
ORPHA:432	FGFR1	2260	HP:0000938	Osteopenia
ORPHA:432	FGFR1	2260	HP:0006610	Wide intermamillary distance
ORPHA:432	FGFR1	2260	HP:0011961	Non-obstructive azoospermia
ORPHA:432	FGFR1	2260	HP:0008197	Absence of pubertal development
ORPHA:432	FGFR1	2260	HP:0000802	Impotence
ORPHA:432	FGFR1	2260	HP:0008734	Decreased testicular size
ORPHA:432	FGFR1	2260	HP:0030019	Increased female libido
ORPHA:432	FGFR1	2260	HP:0000939	Osteoporosis
ORPHA:432	FGFR1	2260	HP:0000771	Gynecomastia
ORPHA:432	FGFR1	2260	HP:0000013	Hypoplasia of the uterus
ORPHA:432	FGFR1	2260	HP:0002231	Sparse body hair
ORPHA:432	FGFR1	2260	HP:0000823	Delayed puberty
ORPHA:432	FGFR1	2260	HP:0000054	Micropenis
ORPHA:432	FGFR1	2260	HP:0002750	Delayed skeletal maturation
ORPHA:432	FGFR1	2260	HP:0003187	Breast hypoplasia
ORPHA:432	FGFR1	2260	HP:0000869	Secondary amenorrhea
ORPHA:432	FGFR1	2260	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	FGFR1	2260	HP:0000002	Abnormality of body height
ORPHA:432	FGFR1	2260	HP:0008724	Hypoplasia of the ovary
ORPHA:432	TACR3	6870	HP:0000134	Female hypogonadism
ORPHA:432	TACR3	6870	HP:0000028	Cryptorchidism
ORPHA:432	TACR3	6870	HP:0003782	Eunuchoid habitus
ORPHA:432	TACR3	6870	HP:0000739	Anxiety
ORPHA:432	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	TACR3	6870	HP:0001608	Abnormality of the voice
ORPHA:432	TACR3	6870	HP:0000716	Depressivity
ORPHA:432	TACR3	6870	HP:0008230	Decreased testosterone in males
ORPHA:432	TACR3	6870	HP:0000786	Primary amenorrhea
ORPHA:432	TACR3	6870	HP:0000026	Male hypogonadism
ORPHA:432	TACR3	6870	HP:0000938	Osteopenia
ORPHA:432	TACR3	6870	HP:0006610	Wide intermamillary distance
ORPHA:432	TACR3	6870	HP:0011961	Non-obstructive azoospermia
ORPHA:432	TACR3	6870	HP:0008197	Absence of pubertal development
ORPHA:432	TACR3	6870	HP:0000802	Impotence
ORPHA:432	TACR3	6870	HP:0008734	Decreased testicular size
ORPHA:432	TACR3	6870	HP:0030019	Increased female libido
ORPHA:432	TACR3	6870	HP:0000939	Osteoporosis
ORPHA:432	TACR3	6870	HP:0000771	Gynecomastia
ORPHA:432	TACR3	6870	HP:0000013	Hypoplasia of the uterus
ORPHA:432	TACR3	6870	HP:0002231	Sparse body hair
ORPHA:432	TACR3	6870	HP:0000823	Delayed puberty
ORPHA:432	TACR3	6870	HP:0000054	Micropenis
ORPHA:432	TACR3	6870	HP:0002750	Delayed skeletal maturation
ORPHA:432	TACR3	6870	HP:0003187	Breast hypoplasia
ORPHA:432	TACR3	6870	HP:0000869	Secondary amenorrhea
ORPHA:432	TACR3	6870	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	TACR3	6870	HP:0000002	Abnormality of body height
ORPHA:432	TACR3	6870	HP:0008724	Hypoplasia of the ovary
ORPHA:432	FGF17	8822	HP:0000134	Female hypogonadism
ORPHA:432	FGF17	8822	HP:0000028	Cryptorchidism
ORPHA:432	FGF17	8822	HP:0003782	Eunuchoid habitus
ORPHA:432	FGF17	8822	HP:0000739	Anxiety
ORPHA:432	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	FGF17	8822	HP:0001608	Abnormality of the voice
ORPHA:432	FGF17	8822	HP:0000716	Depressivity
ORPHA:432	FGF17	8822	HP:0008230	Decreased testosterone in males
ORPHA:432	FGF17	8822	HP:0000786	Primary amenorrhea
ORPHA:432	FGF17	8822	HP:0000026	Male hypogonadism
ORPHA:432	FGF17	8822	HP:0000938	Osteopenia
ORPHA:432	FGF17	8822	HP:0006610	Wide intermamillary distance
ORPHA:432	FGF17	8822	HP:0011961	Non-obstructive azoospermia
ORPHA:432	FGF17	8822	HP:0008197	Absence of pubertal development
ORPHA:432	FGF17	8822	HP:0000802	Impotence
ORPHA:432	FGF17	8822	HP:0008734	Decreased testicular size
ORPHA:432	FGF17	8822	HP:0030019	Increased female libido
ORPHA:432	FGF17	8822	HP:0000939	Osteoporosis
ORPHA:432	FGF17	8822	HP:0000771	Gynecomastia
ORPHA:432	FGF17	8822	HP:0000013	Hypoplasia of the uterus
ORPHA:432	FGF17	8822	HP:0002231	Sparse body hair
ORPHA:432	FGF17	8822	HP:0000823	Delayed puberty
ORPHA:432	FGF17	8822	HP:0000054	Micropenis
ORPHA:432	FGF17	8822	HP:0002750	Delayed skeletal maturation
ORPHA:432	FGF17	8822	HP:0003187	Breast hypoplasia
ORPHA:432	FGF17	8822	HP:0000869	Secondary amenorrhea
ORPHA:432	FGF17	8822	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	FGF17	8822	HP:0000002	Abnormality of body height
ORPHA:432	FGF17	8822	HP:0008724	Hypoplasia of the ovary
ORPHA:432	DUSP6	1848	HP:0000134	Female hypogonadism
ORPHA:432	DUSP6	1848	HP:0000028	Cryptorchidism
ORPHA:432	DUSP6	1848	HP:0003782	Eunuchoid habitus
ORPHA:432	DUSP6	1848	HP:0000739	Anxiety
ORPHA:432	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	DUSP6	1848	HP:0001608	Abnormality of the voice
ORPHA:432	DUSP6	1848	HP:0000716	Depressivity
ORPHA:432	DUSP6	1848	HP:0008230	Decreased testosterone in males
ORPHA:432	DUSP6	1848	HP:0000786	Primary amenorrhea
ORPHA:432	DUSP6	1848	HP:0000026	Male hypogonadism
ORPHA:432	DUSP6	1848	HP:0000938	Osteopenia
ORPHA:432	DUSP6	1848	HP:0006610	Wide intermamillary distance
ORPHA:432	DUSP6	1848	HP:0011961	Non-obstructive azoospermia
ORPHA:432	DUSP6	1848	HP:0008197	Absence of pubertal development
ORPHA:432	DUSP6	1848	HP:0000802	Impotence
ORPHA:432	DUSP6	1848	HP:0008734	Decreased testicular size
ORPHA:432	DUSP6	1848	HP:0030019	Increased female libido
ORPHA:432	DUSP6	1848	HP:0000939	Osteoporosis
ORPHA:432	DUSP6	1848	HP:0000771	Gynecomastia
ORPHA:432	DUSP6	1848	HP:0000013	Hypoplasia of the uterus
ORPHA:432	DUSP6	1848	HP:0002231	Sparse body hair
ORPHA:432	DUSP6	1848	HP:0000823	Delayed puberty
ORPHA:432	DUSP6	1848	HP:0000054	Micropenis
ORPHA:432	DUSP6	1848	HP:0002750	Delayed skeletal maturation
ORPHA:432	DUSP6	1848	HP:0003187	Breast hypoplasia
ORPHA:432	DUSP6	1848	HP:0000869	Secondary amenorrhea
ORPHA:432	DUSP6	1848	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	DUSP6	1848	HP:0000002	Abnormality of body height
ORPHA:432	DUSP6	1848	HP:0008724	Hypoplasia of the ovary
ORPHA:432	SPRY4	81848	HP:0000134	Female hypogonadism
ORPHA:432	SPRY4	81848	HP:0000028	Cryptorchidism
ORPHA:432	SPRY4	81848	HP:0003782	Eunuchoid habitus
ORPHA:432	SPRY4	81848	HP:0000739	Anxiety
ORPHA:432	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	SPRY4	81848	HP:0001608	Abnormality of the voice
ORPHA:432	SPRY4	81848	HP:0000716	Depressivity
ORPHA:432	SPRY4	81848	HP:0008230	Decreased testosterone in males
ORPHA:432	SPRY4	81848	HP:0000786	Primary amenorrhea
ORPHA:432	SPRY4	81848	HP:0000026	Male hypogonadism
ORPHA:432	SPRY4	81848	HP:0000938	Osteopenia
ORPHA:432	SPRY4	81848	HP:0006610	Wide intermamillary distance
ORPHA:432	SPRY4	81848	HP:0011961	Non-obstructive azoospermia
ORPHA:432	SPRY4	81848	HP:0008197	Absence of pubertal development
ORPHA:432	SPRY4	81848	HP:0000802	Impotence
ORPHA:432	SPRY4	81848	HP:0008734	Decreased testicular size
ORPHA:432	SPRY4	81848	HP:0030019	Increased female libido
ORPHA:432	SPRY4	81848	HP:0000939	Osteoporosis
ORPHA:432	SPRY4	81848	HP:0000771	Gynecomastia
ORPHA:432	SPRY4	81848	HP:0000013	Hypoplasia of the uterus
ORPHA:432	SPRY4	81848	HP:0002231	Sparse body hair
ORPHA:432	SPRY4	81848	HP:0000823	Delayed puberty
ORPHA:432	SPRY4	81848	HP:0000054	Micropenis
ORPHA:432	SPRY4	81848	HP:0002750	Delayed skeletal maturation
ORPHA:432	SPRY4	81848	HP:0003187	Breast hypoplasia
ORPHA:432	SPRY4	81848	HP:0000869	Secondary amenorrhea
ORPHA:432	SPRY4	81848	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	SPRY4	81848	HP:0000002	Abnormality of body height
ORPHA:432	SPRY4	81848	HP:0008724	Hypoplasia of the ovary
ORPHA:432	KISS1R	84634	HP:0000134	Female hypogonadism
ORPHA:432	KISS1R	84634	HP:0000028	Cryptorchidism
ORPHA:432	KISS1R	84634	HP:0003782	Eunuchoid habitus
ORPHA:432	KISS1R	84634	HP:0000739	Anxiety
ORPHA:432	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	KISS1R	84634	HP:0001608	Abnormality of the voice
ORPHA:432	KISS1R	84634	HP:0000716	Depressivity
ORPHA:432	KISS1R	84634	HP:0008230	Decreased testosterone in males
ORPHA:432	KISS1R	84634	HP:0000786	Primary amenorrhea
ORPHA:432	KISS1R	84634	HP:0000026	Male hypogonadism
ORPHA:432	KISS1R	84634	HP:0000938	Osteopenia
ORPHA:432	KISS1R	84634	HP:0006610	Wide intermamillary distance
ORPHA:432	KISS1R	84634	HP:0011961	Non-obstructive azoospermia
ORPHA:432	KISS1R	84634	HP:0008197	Absence of pubertal development
ORPHA:432	KISS1R	84634	HP:0000802	Impotence
ORPHA:432	KISS1R	84634	HP:0008734	Decreased testicular size
ORPHA:432	KISS1R	84634	HP:0030019	Increased female libido
ORPHA:432	KISS1R	84634	HP:0000939	Osteoporosis
ORPHA:432	KISS1R	84634	HP:0000771	Gynecomastia
ORPHA:432	KISS1R	84634	HP:0000013	Hypoplasia of the uterus
ORPHA:432	KISS1R	84634	HP:0002231	Sparse body hair
ORPHA:432	KISS1R	84634	HP:0000823	Delayed puberty
ORPHA:432	KISS1R	84634	HP:0000054	Micropenis
ORPHA:432	KISS1R	84634	HP:0002750	Delayed skeletal maturation
ORPHA:432	KISS1R	84634	HP:0003187	Breast hypoplasia
ORPHA:432	KISS1R	84634	HP:0000869	Secondary amenorrhea
ORPHA:432	KISS1R	84634	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	KISS1R	84634	HP:0000002	Abnormality of body height
ORPHA:432	KISS1R	84634	HP:0008724	Hypoplasia of the ovary
ORPHA:432	NSMF	26012	HP:0000134	Female hypogonadism
ORPHA:432	NSMF	26012	HP:0000028	Cryptorchidism
ORPHA:432	NSMF	26012	HP:0003782	Eunuchoid habitus
ORPHA:432	NSMF	26012	HP:0000739	Anxiety
ORPHA:432	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:432	NSMF	26012	HP:0001608	Abnormality of the voice
ORPHA:432	NSMF	26012	HP:0000716	Depressivity
ORPHA:432	NSMF	26012	HP:0008230	Decreased testosterone in males
ORPHA:432	NSMF	26012	HP:0000786	Primary amenorrhea
ORPHA:432	NSMF	26012	HP:0000026	Male hypogonadism
ORPHA:432	NSMF	26012	HP:0000938	Osteopenia
ORPHA:432	NSMF	26012	HP:0006610	Wide intermamillary distance
ORPHA:432	NSMF	26012	HP:0011961	Non-obstructive azoospermia
ORPHA:432	NSMF	26012	HP:0008197	Absence of pubertal development
ORPHA:432	NSMF	26012	HP:0000802	Impotence
ORPHA:432	NSMF	26012	HP:0008734	Decreased testicular size
ORPHA:432	NSMF	26012	HP:0030019	Increased female libido
ORPHA:432	NSMF	26012	HP:0000939	Osteoporosis
ORPHA:432	NSMF	26012	HP:0000771	Gynecomastia
ORPHA:432	NSMF	26012	HP:0000013	Hypoplasia of the uterus
ORPHA:432	NSMF	26012	HP:0002231	Sparse body hair
ORPHA:432	NSMF	26012	HP:0000823	Delayed puberty
ORPHA:432	NSMF	26012	HP:0000054	Micropenis
ORPHA:432	NSMF	26012	HP:0002750	Delayed skeletal maturation
ORPHA:432	NSMF	26012	HP:0003187	Breast hypoplasia
ORPHA:432	NSMF	26012	HP:0000869	Secondary amenorrhea
ORPHA:432	NSMF	26012	HP:0008187	Absence of secondary sex characteristics
ORPHA:432	NSMF	26012	HP:0000002	Abnormality of body height
ORPHA:432	NSMF	26012	HP:0008724	Hypoplasia of the ovary
OMIM:603233	STX16	8675	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	STX16	8675	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:603233	STX16	8675	HP:0000006	Autosomal dominant inheritance
OMIM:603233	STX16	8675	HP:0002901	Hypocalcemia
OMIM:603233	STX16	8675	HP:0003745	Sporadic
OMIM:603233	STX16	8675	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	STX16	8675	HP:0002905	Hyperphosphatemia
OMIM:603233	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:603233	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:603233	GNAS	2778	HP:0002901	Hypocalcemia
OMIM:603233	GNAS	2778	HP:0003745	Sporadic
OMIM:603233	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:603233	GNAS-AS1	149775	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	GNAS-AS1	149775	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:603233	GNAS-AS1	149775	HP:0000006	Autosomal dominant inheritance
OMIM:603233	GNAS-AS1	149775	HP:0002901	Hypocalcemia
OMIM:603233	GNAS-AS1	149775	HP:0003745	Sporadic
OMIM:603233	GNAS-AS1	149775	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	GNAS-AS1	149775	HP:0002905	Hyperphosphatemia
OMIM:303700	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:303700	OPN1LW	5956	HP:0007939	Blue cone monochromacy
OMIM:303700	OPN1LW	5956	HP:0000613	Photophobia
OMIM:303700	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:303700	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:303700	OPN1LW	5956	HP:0012043	Pendular nystagmus
OMIM:303700	OPN1LW	5956	HP:0000639	Nystagmus
OMIM:303700	OPN1LW	5956	HP:0000545	Myopia
OMIM:303700	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:303700	OPN1MW	2652	HP:0007939	Blue cone monochromacy
OMIM:303700	OPN1MW	2652	HP:0000613	Photophobia
OMIM:303700	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:303700	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:303700	OPN1MW	2652	HP:0012043	Pendular nystagmus
OMIM:303700	OPN1MW	2652	HP:0000639	Nystagmus
OMIM:303700	OPN1MW	2652	HP:0000545	Myopia
OMIM:614185	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:614185	FBN1	2200	HP:0003196	Short nose
OMIM:614185	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:614185	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:614185	FBN1	2200	HP:0002750	Delayed skeletal maturation
OMIM:614185	FBN1	2200	HP:0004322	Short stature
OMIM:614185	FBN1	2200	HP:0010579	Cone-shaped epiphysis
OMIM:614185	FBN1	2200	HP:0000293	Full cheeks
OMIM:614185	FBN1	2200	HP:0000316	Hypertelorism
OMIM:614185	FBN1	2200	HP:0000319	Smooth philtrum
OMIM:614185	FBN1	2200	HP:0002240	Hepatomegaly
OMIM:614185	FBN1	2200	HP:0040083	Toe walking
OMIM:614185	FBN1	2200	HP:0000343	Long philtrum
OMIM:614185	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:614185	FBN1	2200	HP:0001773	Short foot
OMIM:614185	FBN1	2200	HP:0003300	Ovoid vertebral bodies
OMIM:614185	FBN1	2200	HP:0000219	Thin upper lip vermilion
OMIM:614185	FBN1	2200	HP:0002092	Pulmonary arterial hypertension
OMIM:614185	FBN1	2200	HP:0004279	Short palm
OMIM:614185	FBN1	2200	HP:0001387	Joint stiffness
OMIM:614185	FBN1	2200	HP:0001718	Mitral stenosis
OMIM:614185	FBN1	2200	HP:0002093	Respiratory insufficiency
OMIM:616452	CARD11	84433	HP:0002719	Recurrent infections
OMIM:616452	CARD11	84433	HP:0002850	IgM deficiency
OMIM:616452	CARD11	84433	HP:0001744	Splenomegaly
OMIM:616452	CARD11	84433	HP:0000006	Autosomal dominant inheritance
ORPHA:752	HSD17B3	3293	HP:0000028	Cryptorchidism
ORPHA:752	HSD17B3	3293	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:752	HSD17B3	3293	HP:0000789	Infertility
ORPHA:752	HSD17B3	3293	HP:0000037	Male pseudohermaphroditism
ORPHA:752	HSD17B3	3293	HP:0000062	Ambiguous genitalia
ORPHA:752	HSD17B3	3293	HP:0000795	Abnormality of the urethra
ORPHA:752	HSD17B3	3293	HP:0000771	Gynecomastia
OMIM:224120	CDAN1	146059	HP:0006579	Prolonged neonatal jaundice
OMIM:224120	CDAN1	146059	HP:0003352	Endopolyploidy on chromosome studies of bone marrow
OMIM:224120	CDAN1	146059	HP:0001789	Hydrops fetalis
OMIM:224120	CDAN1	146059	HP:0004447	Poikilocytosis
OMIM:224120	CDAN1	146059	HP:0012132	Erythroid hyperplasia
OMIM:224120	CDAN1	146059	HP:0001923	Reticulocytosis
OMIM:224120	CDAN1	146059	HP:0003655	Reduced activity of N-acetylglucosaminyltransferase II
OMIM:224120	CDAN1	146059	HP:0001530	Mild postnatal growth retardation
OMIM:224120	CDAN1	146059	HP:0005532	Macrocytic dyserythropoietic anemia
OMIM:224120	CDAN1	146059	HP:0001744	Splenomegaly
OMIM:224120	CDAN1	146059	HP:0000007	Autosomal recessive inheritance
OMIM:224120	CDAN1	146059	HP:0011273	Anisocytosis
OMIM:610628	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:610628	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:610628	PROK2	60675	HP:0000054	Micropenis
OMIM:610628	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:610628	PROK2	60675	HP:0003829	Incomplete penetrance
OMIM:610628	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:616887	LMAN2L	81562	HP:0000007	Autosomal recessive inheritance
OMIM:616887	LMAN2L	81562	HP:0001250	Seizures
OMIM:616887	LMAN2L	81562	HP:0003593	Infantile onset
OMIM:616887	LMAN2L	81562	HP:0010864	Intellectual disability, severe
OMIM:616887	LMAN2L	81562	HP:0001263	Global developmental delay
OMIM:615356	TRAPPC11	60684	HP:0001385	Hip dysplasia
OMIM:615356	TRAPPC11	60684	HP:0004322	Short stature
OMIM:615356	TRAPPC11	60684	HP:0001251	Ataxia
OMIM:615356	TRAPPC11	60684	HP:0001337	Tremor
OMIM:615356	TRAPPC11	60684	HP:0000486	Strabismus
OMIM:615356	TRAPPC11	60684	HP:0006785	Limb-girdle muscular dystrophy
OMIM:615356	TRAPPC11	60684	HP:0003394	Muscle cramps
OMIM:615356	TRAPPC11	60684	HP:0003307	Hyperlordosis
OMIM:615356	TRAPPC11	60684	HP:0003391	Gowers sign
OMIM:615356	TRAPPC11	60684	HP:0000545	Myopia
OMIM:615356	TRAPPC11	60684	HP:0002355	Difficulty walking
OMIM:615356	TRAPPC11	60684	HP:0003326	Myalgia
OMIM:615356	TRAPPC11	60684	HP:0003812	Phenotypic variability
OMIM:615356	TRAPPC11	60684	HP:0001290	Generalized hypotonia
OMIM:615356	TRAPPC11	60684	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615356	TRAPPC11	60684	HP:0002072	Chorea
OMIM:615356	TRAPPC11	60684	HP:0000518	Cataract
OMIM:615356	TRAPPC11	60684	HP:0000252	Microcephaly
OMIM:615356	TRAPPC11	60684	HP:0000007	Autosomal recessive inheritance
OMIM:615356	TRAPPC11	60684	HP:0002465	Poor speech
OMIM:615356	TRAPPC11	60684	HP:0002515	Waddling gait
OMIM:615356	TRAPPC11	60684	HP:0002540	Inability to walk
OMIM:615356	TRAPPC11	60684	HP:0001263	Global developmental delay
OMIM:615356	TRAPPC11	60684	HP:0001249	Intellectual disability
OMIM:615356	TRAPPC11	60684	HP:0002650	Scoliosis
OMIM:615356	TRAPPC11	60684	HP:0002305	Athetosis
OMIM:615356	TRAPPC11	60684	HP:0001332	Dystonia
OMIM:614922	RMND1	55005	HP:0001250	Seizures
OMIM:614922	RMND1	55005	HP:0000083	Renal insufficiency
OMIM:614922	RMND1	55005	HP:0001947	Renal tubular acidosis
OMIM:614922	RMND1	55005	HP:0001290	Generalized hypotonia
OMIM:614922	RMND1	55005	HP:0002151	Increased serum lactate
OMIM:614922	RMND1	55005	HP:0003429	CNS hypomyelination
OMIM:614922	RMND1	55005	HP:0000107	Renal cyst
OMIM:614922	RMND1	55005	HP:0001265	Hyporeflexia
OMIM:614922	RMND1	55005	HP:0003828	Variable expressivity
OMIM:614922	RMND1	55005	HP:0000007	Autosomal recessive inheritance
OMIM:614922	RMND1	55005	HP:0003128	Lactic acidosis
OMIM:614922	RMND1	55005	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614922	RMND1	55005	HP:0000110	Renal dysplasia
OMIM:614922	RMND1	55005	HP:0012448	Delayed myelination
OMIM:614922	RMND1	55005	HP:0001254	Lethargy
OMIM:614922	RMND1	55005	HP:0001263	Global developmental delay
OMIM:614922	RMND1	55005	HP:0003198	Myopathy
OMIM:614922	RMND1	55005	HP:0001410	Decreased liver function
OMIM:614922	RMND1	55005	HP:0002490	Increased CSF lactate
OMIM:614922	RMND1	55005	HP:0000089	Renal hypoplasia
OMIM:614922	RMND1	55005	HP:0000365	Hearing impairment
OMIM:614922	RMND1	55005	HP:0001302	Pachygyria
OMIM:614922	RMND1	55005	HP:0001397	Hepatic steatosis
OMIM:614922	RMND1	55005	HP:0001522	Death in infancy
OMIM:614922	RMND1	55005	HP:0003577	Congenital onset
OMIM:614922	RMND1	55005	HP:0001284	Areflexia
OMIM:614922	RMND1	55005	HP:0006829	Severe muscular hypotonia
OMIM:614922	RMND1	55005	HP:0002120	Cerebral cortical atrophy
OMIM:614922	RMND1	55005	HP:0011968	Feeding difficulties
OMIM:163500	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:163500	PDE6B	5158	HP:0007642	Congenital stationary night blindness
ORPHA:98767	TTBK2	146057	HP:0010544	Vertical nystagmus
ORPHA:98767	TTBK2	146057	HP:0002015	Dysphagia
ORPHA:98767	TTBK2	146057	HP:0002141	Gait imbalance
ORPHA:98767	TTBK2	146057	HP:0001260	Dysarthria
ORPHA:98767	TTBK2	146057	HP:0002355	Difficulty walking
ORPHA:98767	TTBK2	146057	HP:0008003	Jerky ocular pursuit movements
ORPHA:98767	TTBK2	146057	HP:0000666	Horizontal nystagmus
ORPHA:98767	TTBK2	146057	HP:0002073	Progressive cerebellar ataxia
ORPHA:952	EVC2	132884	HP:0008404	Nail dystrophy
ORPHA:952	EVC2	132884	HP:0100797	Toenail dysplasia
ORPHA:952	EVC2	132884	HP:0004209	Clinodactyly of the 5th finger
ORPHA:952	EVC2	132884	HP:0000698	Conical tooth
ORPHA:952	EVC2	132884	HP:0009738	Abnormality of the antihelix
ORPHA:952	EVC2	132884	HP:0000190	Abnormality of oral frenula
ORPHA:952	EVC2	132884	HP:0003502	Mild short stature
ORPHA:952	EVC2	132884	HP:0001162	Postaxial hand polydactyly
ORPHA:952	EVC2	132884	HP:0001800	Hypoplastic toenails
ORPHA:952	EVC2	132884	HP:0200055	Small hand
ORPHA:952	EVC2	132884	HP:0010557	Overlapping fingers
ORPHA:952	EVC2	132884	HP:0000668	Hypodontia
ORPHA:952	EVC2	132884	HP:0002006	Facial cleft
ORPHA:952	EVC2	132884	HP:0006288	Advanced eruption of teeth
ORPHA:952	EVC2	132884	HP:0006315	Single median maxillary incisor
ORPHA:952	EVC2	132884	HP:0001231	Abnormality of the fingernails
ORPHA:952	EVC	2121	HP:0008404	Nail dystrophy
ORPHA:952	EVC	2121	HP:0100797	Toenail dysplasia
ORPHA:952	EVC	2121	HP:0004209	Clinodactyly of the 5th finger
ORPHA:952	EVC	2121	HP:0000698	Conical tooth
ORPHA:952	EVC	2121	HP:0009738	Abnormality of the antihelix
ORPHA:952	EVC	2121	HP:0000190	Abnormality of oral frenula
ORPHA:952	EVC	2121	HP:0003502	Mild short stature
ORPHA:952	EVC	2121	HP:0001162	Postaxial hand polydactyly
ORPHA:952	EVC	2121	HP:0001800	Hypoplastic toenails
ORPHA:952	EVC	2121	HP:0200055	Small hand
ORPHA:952	EVC	2121	HP:0010557	Overlapping fingers
ORPHA:952	EVC	2121	HP:0000668	Hypodontia
ORPHA:952	EVC	2121	HP:0002006	Facial cleft
ORPHA:952	EVC	2121	HP:0006288	Advanced eruption of teeth
ORPHA:952	EVC	2121	HP:0006315	Single median maxillary incisor
ORPHA:952	EVC	2121	HP:0001231	Abnormality of the fingernails
OMIM:123400	PRNP	5621	HP:0001289	Confusion
OMIM:123400	PRNP	5621	HP:0000726	Dementia
OMIM:123400	PRNP	5621	HP:0000605	Supranuclear gaze palsy
OMIM:123400	PRNP	5621	HP:0000737	Irritability
OMIM:123400	PRNP	5621	HP:0007076	Extrapyramidal muscular rigidity
OMIM:123400	PRNP	5621	HP:0002381	Aphasia
OMIM:123400	PRNP	5621	HP:0000741	Apathy
OMIM:123400	PRNP	5621	HP:0001336	Myoclonus
OMIM:123400	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:123400	PRNP	5621	HP:0001269	Hemiparesis
OMIM:123400	PRNP	5621	HP:0000751	Personality changes
OMIM:123400	PRNP	5621	HP:0000746	Delusions
OMIM:123400	PRNP	5621	HP:0003678	Rapidly progressive
OMIM:123400	PRNP	5621	HP:0000738	Hallucinations
OMIM:123400	PRNP	5621	HP:0000739	Anxiety
OMIM:123400	PRNP	5621	HP:0000505	Visual impairment
OMIM:123400	PRNP	5621	HP:0005327	Loss of facial expression
OMIM:123400	PRNP	5621	HP:0000716	Depressivity
OMIM:123400	PRNP	5621	HP:0002354	Memory impairment
OMIM:123400	PRNP	5621	HP:0002066	Gait ataxia
OMIM:614464	CEP41	95681	HP:0001290	Generalized hypotonia
OMIM:614464	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:614464	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614464	CEP41	95681	HP:0001251	Ataxia
OMIM:614464	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:614464	CEP41	95681	HP:0001263	Global developmental delay
OMIM:614464	CEP41	95681	HP:0001249	Intellectual disability
OMIM:614464	CEP41	95681	HP:0000054	Micropenis
OMIM:614464	CEP41	95681	HP:0010442	Polydactyly
OMIM:606864	SDHB	6390	HP:0002668	Paraganglioma
OMIM:606864	SDHB	6390	HP:0007378	Neoplasm of the gastrointestinal tract
OMIM:606864	SDHC	6391	HP:0002668	Paraganglioma
OMIM:606864	SDHC	6391	HP:0007378	Neoplasm of the gastrointestinal tract
OMIM:606864	SDHD	6392	HP:0002668	Paraganglioma
OMIM:606864	SDHD	6392	HP:0007378	Neoplasm of the gastrointestinal tract
OMIM:148700	DSG1	1828	HP:0000982	Palmoplantar keratoderma
OMIM:148700	DSG1	1828	HP:0000006	Autosomal dominant inheritance
OMIM:148700	DSG1	1828	HP:0007501	Streaks of hyperkeratosis along each finger onto the palm
OMIM:148700	DSG1	1828	HP:0025092	Epidermal acanthosis
OMIM:616371	PARN	5073	HP:0003581	Adult onset
OMIM:616371	PARN	5073	HP:0000006	Autosomal dominant inheritance
OMIM:616371	PARN	5073	HP:0003829	Incomplete penetrance
OMIM:616371	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:616371	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:616657	SLC1A4	6509	HP:0003487	Babinski sign
OMIM:616657	SLC1A4	6509	HP:0001263	Global developmental delay
OMIM:616657	SLC1A4	6509	HP:0000752	Hyperactivity
OMIM:616657	SLC1A4	6509	HP:0000737	Irritability
OMIM:616657	SLC1A4	6509	HP:0002540	Inability to walk
OMIM:616657	SLC1A4	6509	HP:0002059	Cerebral atrophy
OMIM:616657	SLC1A4	6509	HP:0003577	Congenital onset
OMIM:616657	SLC1A4	6509	HP:0002510	Spastic tetraplegia
OMIM:616657	SLC1A4	6509	HP:0000007	Autosomal recessive inheritance
OMIM:616657	SLC1A4	6509	HP:0001290	Generalized hypotonia
OMIM:616657	SLC1A4	6509	HP:0001249	Intellectual disability
OMIM:616657	SLC1A4	6509	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616657	SLC1A4	6509	HP:0001347	Hyperreflexia
OMIM:616657	SLC1A4	6509	HP:0000253	Progressive microcephaly
ORPHA:35093	ALX4	60529	HP:0000268	Dolichocephaly
ORPHA:35093	TWIST1	7291	HP:0000268	Dolichocephaly
ORPHA:35093	ERF	2077	HP:0000268	Dolichocephaly
OMIM:146000	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:146000	FGFR3	2261	HP:0002970	Genu varum
OMIM:146000	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
OMIM:146000	FGFR3	2261	HP:0000272	Malar flattening
OMIM:146000	FGFR3	2261	HP:0001377	Limited elbow extension
OMIM:146000	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:146000	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:146000	FGFR3	2261	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:146000	FGFR3	2261	HP:0011405	Childhood onset short-limb short stature
OMIM:146000	FGFR3	2261	HP:0003026	Short long bone
OMIM:146000	FGFR3	2261	HP:0009815	Aplasia/hypoplasia of the extremities
OMIM:146000	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:146000	FGFR3	2261	HP:0001156	Brachydactyly
OMIM:143890	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:143890	LDLR	3949	HP:0001114	Xanthelasma
OMIM:143890	LDLR	3949	HP:0000006	Autosomal dominant inheritance
OMIM:143890	LDLR	3949	HP:0001084	Corneal arcus
OMIM:203740	OGDH	4967	HP:0002151	Increased serum lactate
OMIM:203740	OGDH	4967	HP:0001942	Metabolic acidosis
OMIM:203740	OGDH	4967	HP:0001290	Generalized hypotonia
OMIM:203740	OGDH	4967	HP:0003819	Death in childhood
OMIM:203740	OGDH	4967	HP:0004902	Congenital lactic acidosis
OMIM:203740	OGDH	4967	HP:0000007	Autosomal recessive inheritance
ORPHA:3253	NECTIN1	5818	HP:0008391	Dystrophic fingernails
ORPHA:3253	NECTIN1	5818	HP:0011800	Midface retrusion
ORPHA:3253	NECTIN1	5818	HP:0000135	Hypogonadism
ORPHA:3253	NECTIN1	5818	HP:0002744	Bilateral cleft lip and palate
ORPHA:3253	NECTIN1	5818	HP:0001249	Intellectual disability
ORPHA:3253	NECTIN1	5818	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:3253	NECTIN1	5818	HP:0006610	Wide intermamillary distance
ORPHA:3253	NECTIN1	5818	HP:0000411	Protruding ear
ORPHA:3253	NECTIN1	5818	HP:0000670	Carious teeth
ORPHA:3253	NECTIN1	5818	HP:0000347	Micrognathia
ORPHA:3253	NECTIN1	5818	HP:0006101	Finger syndactyly
ORPHA:3253	NECTIN1	5818	HP:0001810	Dystrophic toenail
ORPHA:3253	NECTIN1	5818	HP:0000431	Wide nasal bridge
ORPHA:3253	NECTIN1	5818	HP:0001770	Toe syndactyly
ORPHA:3253	NECTIN1	5818	HP:0000494	Downslanted palpebral fissures
ORPHA:3253	NECTIN1	5818	HP:0007598	Bilateral single transverse palmar creases
ORPHA:3253	NECTIN1	5818	HP:0003777	Pili torti
ORPHA:3253	NECTIN1	5818	HP:0001596	Alopecia
ORPHA:3253	NECTIN1	5818	HP:0000400	Macrotia
ORPHA:3253	NECTIN1	5818	HP:0002167	Neurological speech impairment
ORPHA:3253	NECTIN1	5818	HP:0002205	Recurrent respiratory infections
ORPHA:3253	NECTIN1	5818	HP:0002553	Highly arched eyebrow
ORPHA:3253	NECTIN1	5818	HP:0006482	Abnormality of dental morphology
ORPHA:3253	NECTIN1	5818	HP:0005338	Sparse lateral eyebrow
ORPHA:3253	NECTIN1	5818	HP:0000046	Scrotal hypoplasia
ORPHA:3253	NECTIN1	5818	HP:0008070	Sparse hair
ORPHA:3253	NECTIN1	5818	HP:0000968	Ectodermal dysplasia
ORPHA:3253	NECTIN1	5818	HP:0000664	Synophrys
ORPHA:2273	MBTPS2	51360	HP:0200034	Papule
ORPHA:2273	MBTPS2	51360	HP:0200020	Corneal erosion
ORPHA:2273	MBTPS2	51360	HP:0002721	Immunodeficiency
ORPHA:2273	MBTPS2	51360	HP:0008064	Ichthyosis
ORPHA:2273	MBTPS2	51360	HP:0000613	Photophobia
ORPHA:2273	MBTPS2	51360	HP:0001812	Hyperconvex fingernails
ORPHA:2273	MBTPS2	51360	HP:0012742	Thin fingernail
ORPHA:2273	MBTPS2	51360	HP:0011968	Feeding difficulties
ORPHA:2273	MBTPS2	51360	HP:0000726	Dementia
ORPHA:2273	MBTPS2	51360	HP:0001596	Alopecia
ORPHA:2273	MBTPS2	51360	HP:0000499	Abnormality of the eyelashes
ORPHA:2273	MBTPS2	51360	HP:0002376	Developmental regression
ORPHA:2273	MBTPS2	51360	HP:0002223	Absent eyebrow
ORPHA:2273	MBTPS2	51360	HP:0000962	Hyperkeratosis
ORPHA:2273	MBTPS2	51360	HP:0001328	Specific learning disability
ORPHA:2273	MBTPS2	51360	HP:0001508	Failure to thrive
ORPHA:2273	MBTPS2	51360	HP:0001804	Hypoplastic fingernail
ORPHA:2273	MBTPS2	51360	HP:0001249	Intellectual disability
ORPHA:2273	MBTPS2	51360	HP:0001250	Seizures
ORPHA:2273	MBTPS2	51360	HP:0000614	Abnormality of the nasolacrimal system
ORPHA:2273	MBTPS2	51360	HP:0000966	Hypohidrosis
ORPHA:2273	MBTPS2	51360	HP:0045074	Thin eyebrow
ORPHA:2273	MBTPS2	51360	HP:0001006	Hypotrichosis
ORPHA:2273	MBTPS2	51360	HP:0010783	Erythema
ORPHA:2273	MBTPS2	51360	HP:0002718	Recurrent bacterial infections
ORPHA:2273	MBTPS2	51360	HP:0000964	Eczema
ORPHA:2273	MBTPS2	51360	HP:0002205	Recurrent respiratory infections
ORPHA:2273	MBTPS2	51360	HP:0002046	Heat intolerance
OMIM:253550	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:253550	SMN1	6606	HP:0002378	Hand tremor
OMIM:253550	SMN1	6606	HP:0001324	Muscle weakness
OMIM:253550	SMN1	6606	HP:0003457	EMG abnormality
OMIM:253550	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253550	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253550	SMN1	6606	HP:0002205	Recurrent respiratory infections
OMIM:253550	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:606217	CRELD1	78987	HP:0004935	Pulmonary artery atresia
OMIM:606217	CRELD1	78987	HP:0001425	Heterogeneous
OMIM:606217	CRELD1	78987	HP:0003829	Incomplete penetrance
OMIM:606217	CRELD1	78987	HP:0001651	Dextrocardia
OMIM:606217	CRELD1	78987	HP:0002627	Right aortic arch with mirror image branching
OMIM:606217	CRELD1	78987	HP:0000006	Autosomal dominant inheritance
OMIM:606217	CRELD1	78987	HP:0006695	Atrioventricular canal defect
OMIM:145980	CASR	846	HP:0003127	Hypocalciuria
OMIM:145980	CASR	846	HP:0002918	Hypermagnesemia
OMIM:145980	CASR	846	HP:0001733	Pancreatitis
OMIM:145980	CASR	846	HP:0000843	Hyperparathyroidism
OMIM:145980	CASR	846	HP:0003072	Hypercalcemia
OMIM:145980	CASR	846	HP:0000787	Nephrolithiasis
OMIM:145980	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:174900	BMPR1A	657	HP:0003073	Hypoalbuminemia
OMIM:174900	BMPR1A	657	HP:0001508	Failure to thrive
OMIM:174900	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:174900	BMPR1A	657	HP:0002900	Hypokalemia
OMIM:174900	BMPR1A	657	HP:0001903	Anemia
OMIM:174900	BMPR1A	657	HP:0002027	Abdominal pain
OMIM:174900	BMPR1A	657	HP:0004394	Multiple gastric polyps
OMIM:174900	SMAD4	4089	HP:0003073	Hypoalbuminemia
OMIM:174900	SMAD4	4089	HP:0001508	Failure to thrive
OMIM:174900	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:174900	SMAD4	4089	HP:0002900	Hypokalemia
OMIM:174900	SMAD4	4089	HP:0001903	Anemia
OMIM:174900	SMAD4	4089	HP:0002027	Abdominal pain
OMIM:174900	SMAD4	4089	HP:0004394	Multiple gastric polyps
OMIM:613021	SCNN1A	6337	HP:0000006	Autosomal dominant inheritance
OMIM:613021	SCNN1A	6337	HP:0002110	Bronchiectasis
OMIM:613021	SCNN1A	6337	HP:0004469	Chronic bronchitis
ORPHA:90023	LAMTOR2	28956	HP:0000280	Coarse facial features
ORPHA:90023	LAMTOR2	28956	HP:0007443	Partial albinism
ORPHA:90023	LAMTOR2	28956	HP:0004322	Short stature
ORPHA:90023	LAMTOR2	28956	HP:0001875	Neutropenia
ORPHA:90023	LAMTOR2	28956	HP:0005599	Hypopigmentation of hair
ORPHA:90023	LAMTOR2	28956	HP:0002721	Immunodeficiency
ORPHA:90023	LAMTOR2	28956	HP:0006538	Recurrent bronchopulmonary infections
ORPHA:83620	NEUROG3	50674	HP:0001944	Dehydration
ORPHA:83620	NEUROG3	50674	HP:0004918	Hyperchloremic metabolic acidosis
ORPHA:83620	NEUROG3	50674	HP:0002611	Cholestatic liver disease
ORPHA:83620	NEUROG3	50674	HP:0002013	Vomiting
ORPHA:83620	NEUROG3	50674	HP:0002024	Malabsorption
ORPHA:83620	NEUROG3	50674	HP:0001409	Portal hypertension
ORPHA:83620	NEUROG3	50674	HP:0002014	Diarrhea
ORPHA:83620	NEUROG3	50674	HP:0025354	Abnormal cellular phenotype
ORPHA:83620	NEUROG3	50674	HP:0100651	Type I diabetes mellitus
OMIM:614224	IGFBP7	3490	HP:0025355	Retinal arterial macroaneurysms
OMIM:614224	IGFBP7	3490	HP:0001642	Pulmonic stenosis
OMIM:614224	IGFBP7	3490	HP:0000007	Autosomal recessive inheritance
OMIM:614224	IGFBP7	3490	HP:0012231	Exudative retinal detachment
OMIM:615560	PAX1	5075	HP:0000670	Carious teeth
OMIM:615560	PAX1	5075	HP:0000369	Low-set ears
OMIM:615560	PAX1	5075	HP:0000522	Alacrima
OMIM:615560	PAX1	5075	HP:0004467	Preauricular pit
OMIM:615560	PAX1	5075	HP:0000308	Microretrognathia
OMIM:615560	PAX1	5075	HP:0003691	Scapular winging
OMIM:615560	PAX1	5075	HP:0000007	Autosomal recessive inheritance
OMIM:615560	PAX1	5075	HP:0000410	Mixed hearing impairment
OMIM:615560	PAX1	5075	HP:0007678	Lacrimal duct stenosis
ORPHA:1170	PMPCA	23203	HP:0000750	Delayed speech and language development
ORPHA:1170	PMPCA	23203	HP:0000639	Nystagmus
ORPHA:1170	PMPCA	23203	HP:0001252	Muscular hypotonia
ORPHA:1170	PMPCA	23203	HP:0002024	Malabsorption
ORPHA:1170	PMPCA	23203	HP:0001251	Ataxia
ORPHA:1170	PMPCA	23203	HP:0001249	Intellectual disability
ORPHA:1170	PMPCA	23203	HP:0000518	Cataract
ORPHA:1170	PMPCA	23203	HP:0002650	Scoliosis
ORPHA:1170	PMPCA	23203	HP:0008046	Abnormality of the retinal vasculature
ORPHA:1170	PMPCA	23203	HP:0011364	White hair
ORPHA:1170	PMPCA	23203	HP:0000708	Behavioral abnormality
ORPHA:1170	PMPCA	23203	HP:0001107	Ocular albinism
ORPHA:1170	PMPCA	23203	HP:0007513	Generalized hypopigmentation
ORPHA:1170	PMPCA	23203	HP:0001288	Gait disturbance
OMIM:253300	SMN1	6606	HP:0001558	Decreased fetal movement
OMIM:253300	SMN1	6606	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:253300	SMN1	6606	HP:0003445	EMG: neuropathic changes
OMIM:253300	SMN1	6606	HP:0001629	Ventricular septal defect
OMIM:253300	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253300	SMN1	6606	HP:0007126	Proximal amyotrophy
OMIM:253300	SMN1	6606	HP:0001631	Atrial septal defect
OMIM:253300	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253300	SMN1	6606	HP:0001284	Areflexia
OMIM:253300	SMN1	6606	HP:0002205	Recurrent respiratory infections
OMIM:253300	SMN1	6606	HP:0002878	Respiratory failure
OMIM:253300	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:600794	BSCL2	26580	HP:0003484	Upper limb muscle weakness
OMIM:600794	BSCL2	26580	HP:0003435	Cold-induced hand cramps
OMIM:600794	BSCL2	26580	HP:0003674	Onset
OMIM:600794	BSCL2	26580	HP:0000006	Autosomal dominant inheritance
OMIM:600794	BSCL2	26580	HP:0003393	Thenar muscle atrophy
OMIM:600794	BSCL2	26580	HP:0002460	Distal muscle weakness
OMIM:600794	BSCL2	26580	HP:0003427	Thenar muscle weakness
OMIM:600794	BSCL2	26580	HP:0003677	Slow progression
OMIM:600794	BSCL2	26580	HP:0003392	First dorsal interossei muscle weakness
OMIM:600794	BSCL2	26580	HP:0003693	Distal amyotrophy
OMIM:600794	BSCL2	26580	HP:0003426	First dorsal interossei muscle atrophy
OMIM:600794	GARS	2617	HP:0003484	Upper limb muscle weakness
OMIM:600794	GARS	2617	HP:0003435	Cold-induced hand cramps
OMIM:600794	GARS	2617	HP:0003674	Onset
OMIM:600794	GARS	2617	HP:0000006	Autosomal dominant inheritance
OMIM:600794	GARS	2617	HP:0003393	Thenar muscle atrophy
OMIM:600794	GARS	2617	HP:0002460	Distal muscle weakness
OMIM:600794	GARS	2617	HP:0003427	Thenar muscle weakness
OMIM:600794	GARS	2617	HP:0003677	Slow progression
OMIM:600794	GARS	2617	HP:0003392	First dorsal interossei muscle weakness
OMIM:600794	GARS	2617	HP:0003693	Distal amyotrophy
OMIM:600794	GARS	2617	HP:0003426	First dorsal interossei muscle atrophy
ORPHA:2785	CA2	760	HP:0001903	Anemia
ORPHA:2785	CA2	760	HP:0002757	Recurrent fractures
ORPHA:2785	CA2	760	HP:0006482	Abnormality of dental morphology
ORPHA:2785	CA2	760	HP:0000670	Carious teeth
ORPHA:2785	CA2	760	HP:0001873	Thrombocytopenia
ORPHA:2785	CA2	760	HP:0002240	Hepatomegaly
ORPHA:2785	CA2	760	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2785	CA2	760	HP:0000091	Abnormality of the renal tubule
ORPHA:2785	CA2	760	HP:0000689	Dental malocclusion
ORPHA:2785	CA2	760	HP:0009830	Peripheral neuropathy
ORPHA:2785	CA2	760	HP:0000303	Mandibular prognathia
ORPHA:2785	CA2	760	HP:0001508	Failure to thrive
ORPHA:2785	CA2	760	HP:0001744	Splenomegaly
ORPHA:2785	CA2	760	HP:0001263	Global developmental delay
ORPHA:2785	CA2	760	HP:0004349	Reduced bone mineral density
ORPHA:2785	CA2	760	HP:0010885	Aseptic necrosis
ORPHA:2785	CA2	760	HP:0002653	Bone pain
ORPHA:2785	CA2	760	HP:0011002	Osteopetrosis
ORPHA:2785	CA2	760	HP:0001249	Intellectual disability
ORPHA:2785	CA2	760	HP:0002514	Cerebral calcification
ORPHA:2785	CA2	760	HP:0002857	Genu valgum
OMIM:603786	PROM1	8842	HP:0012045	Retinal flecks
OMIM:603786	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:603786	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:603786	PROM1	8842	HP:0000608	Macular degeneration
ORPHA:85112	RSPO1	284654	HP:0012245	Sex reversal
ORPHA:85112	RSPO1	284654	HP:0000982	Palmoplantar keratoderma
ORPHA:85112	RSPO1	284654	HP:0006739	Squamous cell carcinoma of the skin
OMIM:614261	STAMBP	10617	HP:0009882	Short distal phalanx of finger
OMIM:614261	STAMBP	10617	HP:0000316	Hypertelorism
OMIM:614261	STAMBP	10617	HP:0000445	Wide nose
OMIM:614261	STAMBP	10617	HP:0000327	Hypoplasia of the maxilla
OMIM:614261	STAMBP	10617	HP:0030084	Clinodactyly
OMIM:614261	STAMBP	10617	HP:0000648	Optic atrophy
OMIM:614261	STAMBP	10617	HP:0000369	Low-set ears
OMIM:614261	STAMBP	10617	HP:0001508	Failure to thrive
OMIM:614261	STAMBP	10617	HP:0003196	Short nose
OMIM:614261	STAMBP	10617	HP:0011344	Severe global developmental delay
OMIM:614261	STAMBP	10617	HP:0001290	Generalized hypotonia
OMIM:614261	STAMBP	10617	HP:0001629	Ventricular septal defect
OMIM:614261	STAMBP	10617	HP:0001667	Right ventricular hypertrophy
OMIM:614261	STAMBP	10617	HP:0001518	Small for gestational age
OMIM:614261	STAMBP	10617	HP:0012448	Delayed myelination
OMIM:614261	STAMBP	10617	HP:0000007	Autosomal recessive inheritance
OMIM:614261	STAMBP	10617	HP:0002059	Cerebral atrophy
OMIM:614261	STAMBP	10617	HP:0000508	Ptosis
OMIM:614261	STAMBP	10617	HP:0001285	Spastic tetraparesis
OMIM:614261	STAMBP	10617	HP:0001655	Patent foramen ovale
OMIM:614261	STAMBP	10617	HP:0001250	Seizures
OMIM:614261	STAMBP	10617	HP:0001792	Small nail
OMIM:614261	STAMBP	10617	HP:0001156	Brachydactyly
OMIM:614261	STAMBP	10617	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614261	STAMBP	10617	HP:0000253	Progressive microcephaly
OMIM:614261	STAMBP	10617	HP:0003577	Congenital onset
OMIM:614261	STAMBP	10617	HP:0000365	Hearing impairment
OMIM:614261	STAMBP	10617	HP:0010721	Abnormal hair whorl
OMIM:614261	STAMBP	10617	HP:0000340	Sloping forehead
OMIM:614261	STAMBP	10617	HP:0001336	Myoclonus
OMIM:614261	STAMBP	10617	HP:0000175	Cleft palate
OMIM:603194	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:603194	TMEM216	51259	HP:0000175	Cleft palate
OMIM:603194	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:603194	TMEM216	51259	HP:0010442	Polydactyly
OMIM:603194	TMEM216	51259	HP:0006487	Bowing of the long bones
OMIM:603194	TMEM216	51259	HP:0002323	Anencephaly
OMIM:603194	TMEM216	51259	HP:0002435	Meningocele
OMIM:603194	TMEM216	51259	HP:0002084	Encephalocele
OMIM:603194	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:603194	TMEM216	51259	HP:0000107	Renal cyst
OMIM:603194	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:187950	SH2B3	10019	HP:0001744	Splenomegaly
OMIM:187950	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:187950	SH2B3	10019	HP:0000822	Hypertension
OMIM:187950	SH2B3	10019	HP:0001428	Somatic mutation
OMIM:187950	SH2B3	10019	HP:0003540	Impaired platelet aggregation
OMIM:187950	SH2B3	10019	HP:0005547	Myeloproliferative disorder
OMIM:187950	SH2B3	10019	HP:0000924	Abnormality of the skeletal system
OMIM:187950	SH2B3	10019	HP:0001063	Acrocyanosis
OMIM:187950	SH2B3	10019	HP:0001894	Thrombocytosis
OMIM:187950	THPO	7066	HP:0001744	Splenomegaly
OMIM:187950	THPO	7066	HP:0000006	Autosomal dominant inheritance
OMIM:187950	THPO	7066	HP:0000822	Hypertension
OMIM:187950	THPO	7066	HP:0001428	Somatic mutation
OMIM:187950	THPO	7066	HP:0003540	Impaired platelet aggregation
OMIM:187950	THPO	7066	HP:0005547	Myeloproliferative disorder
OMIM:187950	THPO	7066	HP:0000924	Abnormality of the skeletal system
OMIM:187950	THPO	7066	HP:0001063	Acrocyanosis
OMIM:187950	THPO	7066	HP:0001894	Thrombocytosis
OMIM:187950	CALR	811	HP:0001744	Splenomegaly
OMIM:187950	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:187950	CALR	811	HP:0000822	Hypertension
OMIM:187950	CALR	811	HP:0001428	Somatic mutation
OMIM:187950	CALR	811	HP:0003540	Impaired platelet aggregation
OMIM:187950	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:187950	CALR	811	HP:0000924	Abnormality of the skeletal system
OMIM:187950	CALR	811	HP:0001063	Acrocyanosis
OMIM:187950	CALR	811	HP:0001894	Thrombocytosis
OMIM:139300	CYP19A1	1588	HP:0000771	Gynecomastia
OMIM:139300	CYP19A1	1588	HP:0005616	Accelerated skeletal maturation
OMIM:139300	CYP19A1	1588	HP:0000006	Autosomal dominant inheritance
OMIM:139300	CYP19A1	1588	HP:0004322	Short stature
ORPHA:753	SRD5A2	6716	HP:0000028	Cryptorchidism
ORPHA:753	SRD5A2	6716	HP:0008736	Hypoplasia of penis
ORPHA:753	SRD5A2	6716	HP:0000051	Perineal hypospadias
ORPHA:753	SRD5A2	6716	HP:0000046	Scrotal hypoplasia
ORPHA:753	SRD5A2	6716	HP:0000033	Ambiguous genitalia, male
ORPHA:753	SRD5A2	6716	HP:0000144	Decreased fertility
ORPHA:753	SRD5A2	6716	HP:0100779	Urogenital sinus anomaly
ORPHA:753	SRD5A2	6716	HP:0000818	Abnormality of the endocrine system
ORPHA:753	SRD5A2	6716	HP:0000048	Bifid scrotum
OMIM:612998	SYNE1	23345	HP:0003812	Phenotypic variability
OMIM:612998	SYNE1	23345	HP:0011463	Childhood onset
OMIM:612998	SYNE1	23345	HP:0003701	Proximal muscle weakness
OMIM:612998	SYNE1	23345	HP:0007126	Proximal amyotrophy
OMIM:612998	SYNE1	23345	HP:0000006	Autosomal dominant inheritance
OMIM:612998	SYNE1	23345	HP:0000467	Neck muscle weakness
OMIM:612998	SYNE1	23345	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612998	SYNE1	23345	HP:0003560	Muscular dystrophy
OMIM:612998	SYNE1	23345	HP:0005144	Left ventricular septal hypertrophy
OMIM:614496	CUL3	8452	HP:0000822	Hypertension
OMIM:614496	CUL3	8452	HP:0002153	Hyperkalemia
OMIM:614496	CUL3	8452	HP:0000006	Autosomal dominant inheritance
OMIM:614496	CUL3	8452	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:614496	CUL3	8452	HP:0011423	Hyperchloremia
OMIM:614496	CUL3	8452	HP:0008242	Pseudohypoaldosteronism
OMIM:614496	CUL3	8452	HP:0001942	Metabolic acidosis
OMIM:262600	PROP1	5626	HP:0000871	Panhypopituitarism
OMIM:262600	PROP1	5626	HP:0004322	Short stature
OMIM:262600	PROP1	5626	HP:0000821	Hypothyroidism
OMIM:262600	PROP1	5626	HP:0002173	Hypoglycemic seizures
OMIM:262600	PROP1	5626	HP:0000007	Autosomal recessive inheritance
OMIM:262600	PROP1	5626	HP:0000846	Adrenal insufficiency
OMIM:262600	PROP1	5626	HP:0000135	Hypogonadism
OMIM:262600	PROP1	5626	HP:0001998	Neonatal hypoglycemia
OMIM:262600	PROP1	5626	HP:0008202	Prolactin deficiency
OMIM:211800	NT5E	4907	HP:0001367	Abnormal joint morphology
OMIM:211800	NT5E	4907	HP:0000007	Autosomal recessive inheritance
OMIM:211800	NT5E	4907	HP:0011986	Ectopic ossification
OMIM:211800	NT5E	4907	HP:0003207	Arterial calcification
OMIM:211800	NT5E	4907	HP:0000925	Abnormality of the vertebral column
OMIM:607791	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607791	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:607791	MPZ	4359	HP:0001284	Areflexia
OMIM:607791	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:607791	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607791	MPZ	4359	HP:0003378	Axonal degeneration/regeneration
OMIM:607791	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:607791	MPZ	4359	HP:0003484	Upper limb muscle weakness
OMIM:607791	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:611881	ALDOA	226	HP:0000286	Epicanthus
OMIM:611881	ALDOA	226	HP:0001744	Splenomegaly
OMIM:611881	ALDOA	226	HP:0000952	Jaundice
OMIM:611881	ALDOA	226	HP:0001895	Normochromic anemia
OMIM:611881	ALDOA	226	HP:0000508	Ptosis
OMIM:611881	ALDOA	226	HP:0004322	Short stature
OMIM:611881	ALDOA	226	HP:0000007	Autosomal recessive inheritance
OMIM:611881	ALDOA	226	HP:0000470	Short neck
OMIM:611881	ALDOA	226	HP:0001081	Cholelithiasis
OMIM:611881	ALDOA	226	HP:0001897	Normocytic anemia
OMIM:611881	ALDOA	226	HP:0002162	Low posterior hairline
OMIM:611881	ALDOA	226	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:611881	ALDOA	226	HP:0000823	Delayed puberty
OMIM:611881	ALDOA	226	HP:0001082	Cholecystitis
OMIM:613291	SLC10A2	6555	HP:0000007	Autosomal recessive inheritance
OMIM:613291	SLC10A2	6555	HP:0003593	Infantile onset
OMIM:613291	SLC10A2	6555	HP:0002630	Fat malabsorption
OMIM:613291	SLC10A2	6555	HP:0002028	Chronic diarrhea
OMIM:613291	SLC10A2	6555	HP:0003828	Variable expressivity
OMIM:613291	SLC10A2	6555	HP:0001510	Growth delay
OMIM:613291	SLC10A2	6555	HP:0001508	Failure to thrive
OMIM:613291	SLC10A2	6555	HP:0002570	Steatorrhea
OMIM:230800	GBA	2629	HP:0002092	Pulmonary arterial hypertension
OMIM:230800	GBA	2629	HP:0002653	Bone pain
OMIM:230800	GBA	2629	HP:0000953	Hyperpigmentation of the skin
OMIM:230800	GBA	2629	HP:0001903	Anemia
OMIM:230800	GBA	2629	HP:0001971	Hypersplenism
OMIM:230800	GBA	2629	HP:0010885	Aseptic necrosis
OMIM:230800	GBA	2629	HP:0002953	Vertebral compression fractures
OMIM:230800	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:230800	GBA	2629	HP:0002240	Hepatomegaly
OMIM:230800	GBA	2629	HP:0004975	Erlenmeyer flask deformity of the femurs
OMIM:230800	GBA	2629	HP:0006530	Interstitial pulmonary abnormality
OMIM:230800	GBA	2629	HP:0002756	Pathologic fracture
OMIM:230800	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:230800	GBA	2629	HP:0001876	Pancytopenia
OMIM:230800	GBA	2629	HP:0001744	Splenomegaly
OMIM:230800	GBA	2629	HP:0007401	Macular atrophy
OMIM:230800	GBA	2629	HP:0002094	Dyspnea
OMIM:230800	GBA	2629	HP:0006775	Multiple myeloma
OMIM:230800	GBA	2629	HP:0000421	Epistaxis
ORPHA:972	KCNA1	3736	HP:0001251	Ataxia
ORPHA:972	KCNA1	3736	HP:0001350	Slurred speech
ORPHA:972	KCNA1	3736	HP:0003803	Type 1 muscle fiber predominance
ORPHA:972	KCNA1	3736	HP:0002064	Spastic gait
ORPHA:972	KCNA1	3736	HP:0001260	Dysarthria
ORPHA:972	KCNA1	3736	HP:0100022	Abnormality of movement
ORPHA:972	KCNA1	3736	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:972	KCNA1	3736	HP:0003457	EMG abnormality
ORPHA:994	MUSK	4593	HP:0002093	Respiratory insufficiency
ORPHA:994	MUSK	4593	HP:0005280	Depressed nasal bridge
ORPHA:994	MUSK	4593	HP:0002650	Scoliosis
ORPHA:994	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:994	MUSK	4593	HP:0000316	Hypertelorism
ORPHA:994	MUSK	4593	HP:0100490	Camptodactyly of finger
ORPHA:994	MUSK	4593	HP:0003700	Generalized amyotrophy
ORPHA:994	MUSK	4593	HP:0000358	Posteriorly rotated ears
ORPHA:994	MUSK	4593	HP:0010489	Absent palmar crease
ORPHA:994	MUSK	4593	HP:0001561	Polyhydramnios
ORPHA:994	MUSK	4593	HP:0002089	Pulmonary hypoplasia
ORPHA:994	MUSK	4593	HP:0002304	Akinesia
ORPHA:994	MUSK	4593	HP:0000175	Cleft palate
ORPHA:994	MUSK	4593	HP:0002375	Hypokinesia
ORPHA:994	MUSK	4593	HP:0000028	Cryptorchidism
ORPHA:994	MUSK	4593	HP:0001262	Excessive daytime somnolence
ORPHA:994	MUSK	4593	HP:0001511	Intrauterine growth retardation
ORPHA:994	MUSK	4593	HP:0001989	Fetal akinesia sequence
ORPHA:994	MUSK	4593	HP:0002828	Multiple joint contractures
ORPHA:994	MUSK	4593	HP:0000347	Micrognathia
ORPHA:994	MUSK	4593	HP:0000476	Cystic hygroma
ORPHA:994	DOK7	285489	HP:0002093	Respiratory insufficiency
ORPHA:994	DOK7	285489	HP:0005280	Depressed nasal bridge
ORPHA:994	DOK7	285489	HP:0002650	Scoliosis
ORPHA:994	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:994	DOK7	285489	HP:0000316	Hypertelorism
ORPHA:994	DOK7	285489	HP:0100490	Camptodactyly of finger
ORPHA:994	DOK7	285489	HP:0003700	Generalized amyotrophy
ORPHA:994	DOK7	285489	HP:0000358	Posteriorly rotated ears
ORPHA:994	DOK7	285489	HP:0010489	Absent palmar crease
ORPHA:994	DOK7	285489	HP:0001561	Polyhydramnios
ORPHA:994	DOK7	285489	HP:0002089	Pulmonary hypoplasia
ORPHA:994	DOK7	285489	HP:0002304	Akinesia
ORPHA:994	DOK7	285489	HP:0000175	Cleft palate
ORPHA:994	DOK7	285489	HP:0002375	Hypokinesia
ORPHA:994	DOK7	285489	HP:0000028	Cryptorchidism
ORPHA:994	DOK7	285489	HP:0001262	Excessive daytime somnolence
ORPHA:994	DOK7	285489	HP:0001511	Intrauterine growth retardation
ORPHA:994	DOK7	285489	HP:0001989	Fetal akinesia sequence
ORPHA:994	DOK7	285489	HP:0002828	Multiple joint contractures
ORPHA:994	DOK7	285489	HP:0000347	Micrognathia
ORPHA:994	DOK7	285489	HP:0000476	Cystic hygroma
ORPHA:994	RAPSN	5913	HP:0002093	Respiratory insufficiency
ORPHA:994	RAPSN	5913	HP:0005280	Depressed nasal bridge
ORPHA:994	RAPSN	5913	HP:0002650	Scoliosis
ORPHA:994	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:994	RAPSN	5913	HP:0000316	Hypertelorism
ORPHA:994	RAPSN	5913	HP:0100490	Camptodactyly of finger
ORPHA:994	RAPSN	5913	HP:0003700	Generalized amyotrophy
ORPHA:994	RAPSN	5913	HP:0000358	Posteriorly rotated ears
ORPHA:994	RAPSN	5913	HP:0010489	Absent palmar crease
ORPHA:994	RAPSN	5913	HP:0001561	Polyhydramnios
ORPHA:994	RAPSN	5913	HP:0002089	Pulmonary hypoplasia
ORPHA:994	RAPSN	5913	HP:0002304	Akinesia
ORPHA:994	RAPSN	5913	HP:0000175	Cleft palate
ORPHA:994	RAPSN	5913	HP:0002375	Hypokinesia
ORPHA:994	RAPSN	5913	HP:0000028	Cryptorchidism
ORPHA:994	RAPSN	5913	HP:0001262	Excessive daytime somnolence
ORPHA:994	RAPSN	5913	HP:0001511	Intrauterine growth retardation
ORPHA:994	RAPSN	5913	HP:0001989	Fetal akinesia sequence
ORPHA:994	RAPSN	5913	HP:0002828	Multiple joint contractures
ORPHA:994	RAPSN	5913	HP:0000347	Micrognathia
ORPHA:994	RAPSN	5913	HP:0000476	Cystic hygroma
ORPHA:994	MYOD1	4654	HP:0002093	Respiratory insufficiency
ORPHA:994	MYOD1	4654	HP:0005280	Depressed nasal bridge
ORPHA:994	MYOD1	4654	HP:0002650	Scoliosis
ORPHA:994	MYOD1	4654	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:994	MYOD1	4654	HP:0000316	Hypertelorism
ORPHA:994	MYOD1	4654	HP:0100490	Camptodactyly of finger
ORPHA:994	MYOD1	4654	HP:0003700	Generalized amyotrophy
ORPHA:994	MYOD1	4654	HP:0000358	Posteriorly rotated ears
ORPHA:994	MYOD1	4654	HP:0010489	Absent palmar crease
ORPHA:994	MYOD1	4654	HP:0001561	Polyhydramnios
ORPHA:994	MYOD1	4654	HP:0002089	Pulmonary hypoplasia
ORPHA:994	MYOD1	4654	HP:0002304	Akinesia
ORPHA:994	MYOD1	4654	HP:0000175	Cleft palate
ORPHA:994	MYOD1	4654	HP:0002375	Hypokinesia
ORPHA:994	MYOD1	4654	HP:0000028	Cryptorchidism
ORPHA:994	MYOD1	4654	HP:0001262	Excessive daytime somnolence
ORPHA:994	MYOD1	4654	HP:0001511	Intrauterine growth retardation
ORPHA:994	MYOD1	4654	HP:0001989	Fetal akinesia sequence
ORPHA:994	MYOD1	4654	HP:0002828	Multiple joint contractures
ORPHA:994	MYOD1	4654	HP:0000347	Micrognathia
ORPHA:994	MYOD1	4654	HP:0000476	Cystic hygroma
OMIM:300367	GATA1	2623	HP:0001934	Persistent bleeding after trauma
OMIM:300367	GATA1	2623	HP:0003593	Infantile onset
OMIM:300367	GATA1	2623	HP:0000978	Bruising susceptibility
OMIM:300367	GATA1	2623	HP:0001927	Acanthocytosis
OMIM:300367	GATA1	2623	HP:0000967	Petechiae
OMIM:300367	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:300367	GATA1	2623	HP:0001905	Congenital thrombocytopenia
OMIM:300367	GATA1	2623	HP:0000421	Epistaxis
OMIM:300367	GATA1	2623	HP:0003828	Variable expressivity
OMIM:300367	GATA1	2623	HP:0010972	Anemia of inadequate production
OMIM:614873	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX26	55670	HP:0000556	Retinal dystrophy
OMIM:614873	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614873	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614873	PEX26	55670	HP:0000505	Visual impairment
ORPHA:109	PTEN	5728	HP:0100761	Visceral angiomatosis
ORPHA:109	PTEN	5728	HP:0003764	Nevus
ORPHA:109	PTEN	5728	HP:0002650	Scoliosis
ORPHA:109	PTEN	5728	HP:0000256	Macrocephaly
ORPHA:109	PTEN	5728	HP:0001482	Subcutaneous nodule
ORPHA:109	PTEN	5728	HP:0002250	Abnormality of the large intestine
ORPHA:109	PTEN	5728	HP:0007400	Irregular hyperpigmentation
ORPHA:109	PTEN	5728	HP:0100026	Arteriovenous malformation
ORPHA:109	PTEN	5728	HP:0100013	Neoplasm of the breast
ORPHA:109	PTEN	5728	HP:0004322	Short stature
ORPHA:109	PTEN	5728	HP:0000767	Pectus excavatum
ORPHA:109	PTEN	5728	HP:0200008	Intestinal polyposis
ORPHA:109	PTEN	5728	HP:0004390	Hamartomatous polyposis
ORPHA:109	PTEN	5728	HP:0012032	Lipoma
ORPHA:109	PTEN	5728	HP:0005306	Capillary hemangiomas
ORPHA:109	PTEN	5728	HP:0001933	Subcutaneous hemorrhage
OMIM:614388	DNM1L	10059	HP:0000252	Microcephaly
OMIM:614388	DNM1L	10059	HP:0001508	Failure to thrive
OMIM:614388	DNM1L	10059	HP:0007256	Abnormal pyramidal signs
OMIM:614388	DNM1L	10059	HP:0001290	Generalized hypotonia
OMIM:614388	DNM1L	10059	HP:0003128	Lactic acidosis
OMIM:614388	DNM1L	10059	HP:0000490	Deeply set eye
OMIM:614388	DNM1L	10059	HP:0002059	Cerebral atrophy
OMIM:614388	DNM1L	10059	HP:0003676	Progressive
OMIM:614388	DNM1L	10059	HP:0000006	Autosomal dominant inheritance
OMIM:614388	DNM1L	10059	HP:0001284	Areflexia
OMIM:614388	DNM1L	10059	HP:0000648	Optic atrophy
OMIM:614388	DNM1L	10059	HP:0000666	Horizontal nystagmus
OMIM:614388	DNM1L	10059	HP:0001558	Decreased fetal movement
OMIM:614388	DNM1L	10059	HP:0011968	Feeding difficulties
OMIM:614388	DNM1L	10059	HP:0000486	Strabismus
OMIM:614388	DNM1L	10059	HP:0000307	Pointed chin
OMIM:614388	DNM1L	10059	HP:0000007	Autosomal recessive inheritance
OMIM:614388	DNM1L	10059	HP:0001522	Death in infancy
OMIM:614388	DNM1L	10059	HP:0000657	Oculomotor apraxia
OMIM:614388	DNM1L	10059	HP:0001263	Global developmental delay
OMIM:614388	DNM1L	10059	HP:0003828	Variable expressivity
OMIM:606068	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:606068	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:606068	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:606068	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:606068	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:606068	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
ORPHA:2318	ZNF423	23090	HP:0004422	Biparietal narrowing
ORPHA:2318	ZNF423	23090	HP:0000508	Ptosis
ORPHA:2318	ZNF423	23090	HP:0001252	Muscular hypotonia
ORPHA:2318	ZNF423	23090	HP:0000556	Retinal dystrophy
ORPHA:2318	ZNF423	23090	HP:0000639	Nystagmus
ORPHA:2318	ZNF423	23090	HP:0000612	Iris coloboma
ORPHA:2318	ZNF423	23090	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	ZNF423	23090	HP:0000567	Chorioretinal coloboma
ORPHA:2318	ZNF423	23090	HP:0000276	Long face
ORPHA:2318	ZNF423	23090	HP:0000112	Nephropathy
ORPHA:2318	ZNF423	23090	HP:0000729	Autistic behavior
ORPHA:2318	ZNF423	23090	HP:0001263	Global developmental delay
ORPHA:2318	ZNF423	23090	HP:0002789	Tachypnea
ORPHA:2318	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	ZNF423	23090	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	ZNF423	23090	HP:0001249	Intellectual disability
ORPHA:2318	ZNF423	23090	HP:0001251	Ataxia
ORPHA:2318	ZNF423	23090	HP:0002104	Apnea
ORPHA:2318	ZNF423	23090	HP:0000618	Blindness
ORPHA:2318	TMEM138	51524	HP:0004422	Biparietal narrowing
ORPHA:2318	TMEM138	51524	HP:0000508	Ptosis
ORPHA:2318	TMEM138	51524	HP:0001252	Muscular hypotonia
ORPHA:2318	TMEM138	51524	HP:0000556	Retinal dystrophy
ORPHA:2318	TMEM138	51524	HP:0000639	Nystagmus
ORPHA:2318	TMEM138	51524	HP:0000612	Iris coloboma
ORPHA:2318	TMEM138	51524	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	TMEM138	51524	HP:0000567	Chorioretinal coloboma
ORPHA:2318	TMEM138	51524	HP:0000276	Long face
ORPHA:2318	TMEM138	51524	HP:0000112	Nephropathy
ORPHA:2318	TMEM138	51524	HP:0000729	Autistic behavior
ORPHA:2318	TMEM138	51524	HP:0001263	Global developmental delay
ORPHA:2318	TMEM138	51524	HP:0002789	Tachypnea
ORPHA:2318	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	TMEM138	51524	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	TMEM138	51524	HP:0001249	Intellectual disability
ORPHA:2318	TMEM138	51524	HP:0001251	Ataxia
ORPHA:2318	TMEM138	51524	HP:0002104	Apnea
ORPHA:2318	TMEM138	51524	HP:0000618	Blindness
ORPHA:2318	TMEM237	65062	HP:0004422	Biparietal narrowing
ORPHA:2318	TMEM237	65062	HP:0000508	Ptosis
ORPHA:2318	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHA:2318	TMEM237	65062	HP:0000556	Retinal dystrophy
ORPHA:2318	TMEM237	65062	HP:0000639	Nystagmus
ORPHA:2318	TMEM237	65062	HP:0000612	Iris coloboma
ORPHA:2318	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	TMEM237	65062	HP:0000567	Chorioretinal coloboma
ORPHA:2318	TMEM237	65062	HP:0000276	Long face
ORPHA:2318	TMEM237	65062	HP:0000112	Nephropathy
ORPHA:2318	TMEM237	65062	HP:0000729	Autistic behavior
ORPHA:2318	TMEM237	65062	HP:0001263	Global developmental delay
ORPHA:2318	TMEM237	65062	HP:0002789	Tachypnea
ORPHA:2318	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	TMEM237	65062	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	TMEM237	65062	HP:0001249	Intellectual disability
ORPHA:2318	TMEM237	65062	HP:0001251	Ataxia
ORPHA:2318	TMEM237	65062	HP:0002104	Apnea
ORPHA:2318	TMEM237	65062	HP:0000618	Blindness
ORPHA:2318	CEP290	80184	HP:0004422	Biparietal narrowing
ORPHA:2318	CEP290	80184	HP:0000508	Ptosis
ORPHA:2318	CEP290	80184	HP:0001252	Muscular hypotonia
ORPHA:2318	CEP290	80184	HP:0000556	Retinal dystrophy
ORPHA:2318	CEP290	80184	HP:0000639	Nystagmus
ORPHA:2318	CEP290	80184	HP:0000612	Iris coloboma
ORPHA:2318	CEP290	80184	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	CEP290	80184	HP:0000567	Chorioretinal coloboma
ORPHA:2318	CEP290	80184	HP:0000276	Long face
ORPHA:2318	CEP290	80184	HP:0000112	Nephropathy
ORPHA:2318	CEP290	80184	HP:0000729	Autistic behavior
ORPHA:2318	CEP290	80184	HP:0001263	Global developmental delay
ORPHA:2318	CEP290	80184	HP:0002789	Tachypnea
ORPHA:2318	CEP290	80184	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	CEP290	80184	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	CEP290	80184	HP:0001249	Intellectual disability
ORPHA:2318	CEP290	80184	HP:0001251	Ataxia
ORPHA:2318	CEP290	80184	HP:0002104	Apnea
ORPHA:2318	CEP290	80184	HP:0000618	Blindness
ORPHA:2318	CC2D2A	57545	HP:0004422	Biparietal narrowing
ORPHA:2318	CC2D2A	57545	HP:0000508	Ptosis
ORPHA:2318	CC2D2A	57545	HP:0001252	Muscular hypotonia
ORPHA:2318	CC2D2A	57545	HP:0000556	Retinal dystrophy
ORPHA:2318	CC2D2A	57545	HP:0000639	Nystagmus
ORPHA:2318	CC2D2A	57545	HP:0000612	Iris coloboma
ORPHA:2318	CC2D2A	57545	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
ORPHA:2318	CC2D2A	57545	HP:0000276	Long face
ORPHA:2318	CC2D2A	57545	HP:0000112	Nephropathy
ORPHA:2318	CC2D2A	57545	HP:0000729	Autistic behavior
ORPHA:2318	CC2D2A	57545	HP:0001263	Global developmental delay
ORPHA:2318	CC2D2A	57545	HP:0002789	Tachypnea
ORPHA:2318	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	CC2D2A	57545	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	CC2D2A	57545	HP:0001249	Intellectual disability
ORPHA:2318	CC2D2A	57545	HP:0001251	Ataxia
ORPHA:2318	CC2D2A	57545	HP:0002104	Apnea
ORPHA:2318	CC2D2A	57545	HP:0000618	Blindness
ORPHA:2318	TMEM216	51259	HP:0004422	Biparietal narrowing
ORPHA:2318	TMEM216	51259	HP:0000508	Ptosis
ORPHA:2318	TMEM216	51259	HP:0001252	Muscular hypotonia
ORPHA:2318	TMEM216	51259	HP:0000556	Retinal dystrophy
ORPHA:2318	TMEM216	51259	HP:0000639	Nystagmus
ORPHA:2318	TMEM216	51259	HP:0000612	Iris coloboma
ORPHA:2318	TMEM216	51259	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	TMEM216	51259	HP:0000567	Chorioretinal coloboma
ORPHA:2318	TMEM216	51259	HP:0000276	Long face
ORPHA:2318	TMEM216	51259	HP:0000112	Nephropathy
ORPHA:2318	TMEM216	51259	HP:0000729	Autistic behavior
ORPHA:2318	TMEM216	51259	HP:0001263	Global developmental delay
ORPHA:2318	TMEM216	51259	HP:0002789	Tachypnea
ORPHA:2318	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	TMEM216	51259	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	TMEM216	51259	HP:0001249	Intellectual disability
ORPHA:2318	TMEM216	51259	HP:0001251	Ataxia
ORPHA:2318	TMEM216	51259	HP:0002104	Apnea
ORPHA:2318	TMEM216	51259	HP:0000618	Blindness
ORPHA:2318	TMEM231	79583	HP:0004422	Biparietal narrowing
ORPHA:2318	TMEM231	79583	HP:0000508	Ptosis
ORPHA:2318	TMEM231	79583	HP:0001252	Muscular hypotonia
ORPHA:2318	TMEM231	79583	HP:0000556	Retinal dystrophy
ORPHA:2318	TMEM231	79583	HP:0000639	Nystagmus
ORPHA:2318	TMEM231	79583	HP:0000612	Iris coloboma
ORPHA:2318	TMEM231	79583	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:2318	TMEM231	79583	HP:0000567	Chorioretinal coloboma
ORPHA:2318	TMEM231	79583	HP:0000276	Long face
ORPHA:2318	TMEM231	79583	HP:0000112	Nephropathy
ORPHA:2318	TMEM231	79583	HP:0000729	Autistic behavior
ORPHA:2318	TMEM231	79583	HP:0001263	Global developmental delay
ORPHA:2318	TMEM231	79583	HP:0002789	Tachypnea
ORPHA:2318	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
ORPHA:2318	TMEM231	79583	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2318	TMEM231	79583	HP:0001249	Intellectual disability
ORPHA:2318	TMEM231	79583	HP:0001251	Ataxia
ORPHA:2318	TMEM231	79583	HP:0002104	Apnea
ORPHA:2318	TMEM231	79583	HP:0000618	Blindness
ORPHA:510	HPRT1	3251	HP:0001256	Intellectual disability, mild
ORPHA:510	HPRT1	3251	HP:0001997	Gout
ORPHA:510	HPRT1	3251	HP:0000083	Renal insufficiency
ORPHA:510	HPRT1	3251	HP:0000790	Hematuria
ORPHA:510	HPRT1	3251	HP:0100022	Abnormality of movement
ORPHA:510	HPRT1	3251	HP:0000708	Behavioral abnormality
ORPHA:510	HPRT1	3251	HP:0001257	Spasticity
ORPHA:510	HPRT1	3251	HP:0002342	Intellectual disability, moderate
ORPHA:510	HPRT1	3251	HP:0004374	Hemiplegia/hemiparesis
ORPHA:510	HPRT1	3251	HP:0001903	Anemia
OMIM:261600	PAH	5053	HP:0000722	Obsessive-compulsive behavior
OMIM:261600	PAH	5053	HP:0001347	Hyperreflexia
OMIM:261600	PAH	5053	HP:0000635	Blue irides
OMIM:261600	PAH	5053	HP:0000718	Aggressive behavior
OMIM:261600	PAH	5053	HP:0000716	Depressivity
OMIM:261600	PAH	5053	HP:0002514	Cerebral calcification
OMIM:261600	PAH	5053	HP:0001250	Seizures
OMIM:261600	PAH	5053	HP:0004923	Hyperphenylalaninemia
OMIM:261600	PAH	5053	HP:0001249	Intellectual disability
OMIM:261600	PAH	5053	HP:0002286	Fair hair
OMIM:261600	PAH	5053	HP:0007513	Generalized hypopigmentation
OMIM:261600	PAH	5053	HP:0000007	Autosomal recessive inheritance
OMIM:261600	PAH	5053	HP:0000739	Anxiety
OMIM:261600	PAH	5053	HP:0007018	Attention deficit hyperactivity disorder
OMIM:261600	PAH	5053	HP:0000742	Self-mutilation
OMIM:261600	PAH	5053	HP:0000958	Dry skin
OMIM:261600	PAH	5053	HP:0004920	Phenylpyruvic acidemia
OMIM:261600	PAH	5053	HP:0000964	Eczema
OMIM:261600	PAH	5053	HP:0000709	Psychosis
OMIM:261600	PAH	5053	HP:0005982	Reduced phenylalanine hydroxylase activity
OMIM:261600	PAH	5053	HP:0000737	Irritability
OMIM:261600	PAH	5053	HP:0000252	Microcephaly
OMIM:261600	PAH	5053	HP:0100324	Scleroderma
OMIM:261600	PAH	5053	HP:0000518	Cataract
OMIM:261600	PAH	5053	HP:0100610	Maternal hyperphenylalaninemia
ORPHA:329	F11	2160	HP:0003645	Prolonged partial thromboplastin time
ORPHA:329	F11	2160	HP:0006298	Prolonged bleeding after dental extraction
ORPHA:329	F11	2160	HP:0000421	Epistaxis
ORPHA:329	F11	2160	HP:0001929	Reduced factor XI activity
ORPHA:329	F11	2160	HP:0000132	Menorrhagia
OMIM:615429	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ELMOD3	84173	HP:0000365	Hearing impairment
ORPHA:1933	SUCLA2	8803	HP:0003355	Aminoaciduria
ORPHA:1933	SUCLA2	8803	HP:0002119	Ventriculomegaly
ORPHA:1933	SUCLA2	8803	HP:0000505	Visual impairment
ORPHA:1933	SUCLA2	8803	HP:0000252	Microcephaly
ORPHA:1933	SUCLA2	8803	HP:0001251	Ataxia
ORPHA:1933	SUCLA2	8803	HP:0000508	Ptosis
ORPHA:1933	SUCLA2	8803	HP:0002194	Delayed gross motor development
ORPHA:1933	SUCLA2	8803	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:1933	SUCLA2	8803	HP:0002230	Generalized hirsutism
ORPHA:1933	SUCLA2	8803	HP:0002514	Cerebral calcification
ORPHA:1933	SUCLA2	8803	HP:0012120	Methylmalonic aciduria
ORPHA:1933	SUCLA2	8803	HP:0006887	Intellectual disability, progressive
ORPHA:1933	SUCLA2	8803	HP:0000708	Behavioral abnormality
ORPHA:1933	SUCLA2	8803	HP:0004322	Short stature
ORPHA:1933	SUCLA2	8803	HP:0000407	Sensorineural hearing impairment
ORPHA:1933	SUCLA2	8803	HP:0003202	Skeletal muscle atrophy
ORPHA:1933	SUCLA2	8803	HP:0004326	Cachexia
ORPHA:1933	SUCLA2	8803	HP:0001263	Global developmental delay
ORPHA:1933	SUCLA2	8803	HP:0000762	Decreased nerve conduction velocity
ORPHA:1933	SUCLA2	8803	HP:0000649	Abnormality of visual evoked potentials
ORPHA:1933	SUCLA2	8803	HP:0000512	Abnormal electroretinogram
ORPHA:1933	SUCLA2	8803	HP:0001265	Hyporeflexia
ORPHA:1933	SUCLA2	8803	HP:0001250	Seizures
OMIM:242860	DNMT3B	1789	HP:0002090	Pneumonia
OMIM:242860	DNMT3B	1789	HP:0001249	Intellectual disability
OMIM:242860	DNMT3B	1789	HP:0001508	Failure to thrive
OMIM:242860	DNMT3B	1789	HP:0005403	Decrease in T cell count
OMIM:242860	DNMT3B	1789	HP:0004469	Chronic bronchitis
OMIM:242860	DNMT3B	1789	HP:0000272	Malar flattening
OMIM:242860	DNMT3B	1789	HP:0003196	Short nose
OMIM:242860	DNMT3B	1789	HP:0004313	Decreased antibody level in blood
OMIM:242860	DNMT3B	1789	HP:0002024	Malabsorption
OMIM:242860	DNMT3B	1789	HP:0002721	Immunodeficiency
OMIM:242860	DNMT3B	1789	HP:0000369	Low-set ears
OMIM:242860	DNMT3B	1789	HP:0000007	Autosomal recessive inheritance
OMIM:242860	DNMT3B	1789	HP:0000246	Sinusitis
OMIM:242860	DNMT3B	1789	HP:0000347	Micrognathia
OMIM:242860	DNMT3B	1789	HP:0002110	Bronchiectasis
OMIM:242860	DNMT3B	1789	HP:0002014	Diarrhea
OMIM:242860	DNMT3B	1789	HP:0004322	Short stature
OMIM:242860	DNMT3B	1789	HP:0005280	Depressed nasal bridge
OMIM:242860	DNMT3B	1789	HP:0000316	Hypertelorism
OMIM:242860	DNMT3B	1789	HP:0000463	Anteverted nares
OMIM:242860	DNMT3B	1789	HP:0012368	Flat face
OMIM:242860	DNMT3B	1789	HP:0010808	Protruding tongue
OMIM:242860	DNMT3B	1789	HP:0000158	Macroglossia
OMIM:242860	DNMT3B	1789	HP:0000286	Epicanthus
OMIM:616295	CAST	831	HP:0000007	Autosomal recessive inheritance
OMIM:616295	CAST	831	HP:0025092	Epidermal acanthosis
OMIM:616295	CAST	831	HP:0040189	Scaling skin
OMIM:616295	CAST	831	HP:0001820	Leukonychia
OMIM:616295	CAST	831	HP:0030318	Angular cheilitis
OMIM:616295	CAST	831	HP:0000982	Palmoplantar keratoderma
ORPHA:902	WRN	7486	HP:0000934	Chondrocalcinosis
ORPHA:902	WRN	7486	HP:0005978	Type II diabetes mellitus
ORPHA:902	WRN	7486	HP:0000135	Hypogonadism
ORPHA:902	WRN	7486	HP:0001658	Myocardial infarction
ORPHA:902	WRN	7486	HP:0001635	Congestive heart failure
ORPHA:902	WRN	7486	HP:0004415	Pulmonary artery stenosis
ORPHA:902	WRN	7486	HP:0002211	White forelock
ORPHA:902	WRN	7486	HP:0200055	Small hand
ORPHA:902	WRN	7486	HP:0000144	Decreased fertility
ORPHA:902	WRN	7486	HP:0100578	Lipoatrophy
ORPHA:902	WRN	7486	HP:0000765	Abnormality of the thorax
ORPHA:902	WRN	7486	HP:0007618	Subcutaneous calcification
ORPHA:902	WRN	7486	HP:0001533	Slender build
ORPHA:902	WRN	7486	HP:0000444	Convex nasal ridge
ORPHA:902	WRN	7486	HP:0100585	Telangiectasia of the skin
ORPHA:902	WRN	7486	HP:0100679	Lack of skin elasticity
ORPHA:902	WRN	7486	HP:0001838	Rocker bottom foot
ORPHA:902	WRN	7486	HP:0003202	Skeletal muscle atrophy
ORPHA:902	WRN	7486	HP:0003777	Pili torti
ORPHA:902	WRN	7486	HP:0200042	Skin ulcer
ORPHA:902	WRN	7486	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:902	WRN	7486	HP:0002216	Premature graying of hair
ORPHA:902	WRN	7486	HP:0010721	Abnormal hair whorl
ORPHA:902	WRN	7486	HP:0002209	Sparse scalp hair
ORPHA:902	WRN	7486	HP:0010468	Aplasia/Hypoplasia of the testes
ORPHA:902	WRN	7486	HP:0000518	Cataract
ORPHA:902	WRN	7486	HP:0007703	Abnormality of retinal pigmentation
ORPHA:902	WRN	7486	HP:0011001	Increased bone mineral density
ORPHA:902	WRN	7486	HP:0000939	Osteoporosis
ORPHA:902	WRN	7486	HP:0000855	Insulin resistance
ORPHA:902	WRN	7486	HP:0001608	Abnormality of the voice
ORPHA:902	WRN	7486	HP:0000275	Narrow face
ORPHA:902	WRN	7486	HP:0000962	Hyperkeratosis
ORPHA:902	WRN	7486	HP:0004322	Short stature
OMIM:103050	ADSL	158	HP:0000817	Poor eye contact
OMIM:103050	ADSL	158	HP:0001272	Cerebellar atrophy
OMIM:103050	ADSL	158	HP:0003593	Infantile onset
OMIM:103050	ADSL	158	HP:0001290	Generalized hypotonia
OMIM:103050	ADSL	158	HP:0001348	Brisk reflexes
OMIM:103050	ADSL	158	HP:0000748	Inappropriate laughter
OMIM:103050	ADSL	158	HP:0000319	Smooth philtrum
OMIM:103050	ADSL	158	HP:0005487	Prominent metopic ridge
OMIM:103050	ADSL	158	HP:0000752	Hyperactivity
OMIM:103050	ADSL	158	HP:0000750	Delayed speech and language development
OMIM:103050	ADSL	158	HP:0002066	Gait ataxia
OMIM:103050	ADSL	158	HP:0000463	Anteverted nares
OMIM:103050	ADSL	158	HP:0000718	Aggressive behavior
OMIM:103050	ADSL	158	HP:0001510	Growth delay
OMIM:103050	ADSL	158	HP:0000154	Wide mouth
OMIM:103050	ADSL	158	HP:0000486	Strabismus
OMIM:103050	ADSL	158	HP:0003196	Short nose
OMIM:103050	ADSL	158	HP:0001263	Global developmental delay
OMIM:103050	ADSL	158	HP:0011344	Severe global developmental delay
OMIM:103050	ADSL	158	HP:0000742	Self-mutilation
OMIM:103050	ADSL	158	HP:0001336	Myoclonus
OMIM:103050	ADSL	158	HP:0000219	Thin upper lip vermilion
OMIM:103050	ADSL	158	HP:0000717	Autism
OMIM:103050	ADSL	158	HP:0003202	Skeletal muscle atrophy
OMIM:103050	ADSL	158	HP:0001249	Intellectual disability
OMIM:103050	ADSL	158	HP:0001250	Seizures
OMIM:103050	ADSL	158	HP:0006808	Cerebral hypomyelination
OMIM:103050	ADSL	158	HP:0000343	Long philtrum
OMIM:103050	ADSL	158	HP:0002059	Cerebral atrophy
OMIM:103050	ADSL	158	HP:0000639	Nystagmus
OMIM:103050	ADSL	158	HP:0000369	Low-set ears
OMIM:103050	ADSL	158	HP:0000007	Autosomal recessive inheritance
OMIM:103050	ADSL	158	HP:0002540	Inability to walk
OMIM:103050	ADSL	158	HP:0003429	CNS hypomyelination
OMIM:103050	ADSL	158	HP:0002179	Opisthotonus
OMIM:103050	ADSL	158	HP:0000248	Brachycephaly
OMIM:300600	CACNA1F	778	HP:0000639	Nystagmus
OMIM:300600	CACNA1F	778	HP:0001141	Severe visual impairment
OMIM:300600	CACNA1F	778	HP:0001022	Albinism
OMIM:300600	CACNA1F	778	HP:0000483	Astigmatism
OMIM:300600	CACNA1F	778	HP:0000545	Myopia
OMIM:300600	CACNA1F	778	HP:0001417	X-linked inheritance
OMIM:300600	CACNA1F	778	HP:0007750	Hypoplasia of the fovea
OMIM:300600	CACNA1F	778	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:614322	WWOX	51741	HP:0001272	Cerebellar atrophy
OMIM:614322	WWOX	51741	HP:0000252	Microcephaly
OMIM:614322	WWOX	51741	HP:0001265	Hyporeflexia
OMIM:614322	WWOX	51741	HP:0002070	Limb ataxia
OMIM:614322	WWOX	51741	HP:0000007	Autosomal recessive inheritance
OMIM:614322	WWOX	51741	HP:0001250	Seizures
OMIM:614322	WWOX	51741	HP:0000640	Gaze-evoked nystagmus
OMIM:614322	WWOX	51741	HP:0001260	Dysarthria
OMIM:614322	WWOX	51741	HP:0001263	Global developmental delay
OMIM:614322	WWOX	51741	HP:0001249	Intellectual disability
OMIM:614322	WWOX	51741	HP:0002066	Gait ataxia
OMIM:617251	TGM3	7053	HP:0030056	Uncombable hair
OMIM:617251	TGM3	7053	HP:0000007	Autosomal recessive inheritance
OMIM:617251	TGM3	7053	HP:0001118	Juvenile cataract
OMIM:617251	TGM3	7053	HP:0003593	Infantile onset
OMIM:617251	TGM3	7053	HP:0002235	Pili canaliculi
ORPHA:369873	SIM1	6492	HP:0001263	Global developmental delay
ORPHA:369873	SIM1	6492	HP:0002591	Polyphagia
ORPHA:369873	SIM1	6492	HP:0005307	Postural hypotension with compensatory tachycardia
ORPHA:369873	SIM1	6492	HP:0000842	Hyperinsulinemia
ORPHA:369873	SIM1	6492	HP:0100503	Vitamin B1 deficiency
ORPHA:369873	SIM1	6492	HP:0001513	Obesity
ORPHA:369873	SIM1	6492	HP:0002459	Dysautonomia
ORPHA:369873	SIM1	6492	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:369873	SIM1	6492	HP:0002354	Memory impairment
OMIM:617228	MIPEP	4285	HP:0001250	Seizures
OMIM:617228	MIPEP	4285	HP:0001276	Hypertonia
OMIM:617228	MIPEP	4285	HP:0002151	Increased serum lactate
OMIM:617228	MIPEP	4285	HP:0000007	Autosomal recessive inheritance
OMIM:617228	MIPEP	4285	HP:0003348	Hyperalaninemia
OMIM:617228	MIPEP	4285	HP:0003128	Lactic acidosis
OMIM:617228	MIPEP	4285	HP:0001290	Generalized hypotonia
OMIM:617228	MIPEP	4285	HP:0001639	Hypertrophic cardiomyopathy
OMIM:617228	MIPEP	4285	HP:0011968	Feeding difficulties
OMIM:617228	MIPEP	4285	HP:0003593	Infantile onset
OMIM:617228	MIPEP	4285	HP:0001508	Failure to thrive
OMIM:617228	MIPEP	4285	HP:0001263	Global developmental delay
OMIM:617228	MIPEP	4285	HP:0030682	Left ventricular noncompaction
OMIM:614067	AP4S1	11154	HP:0000007	Autosomal recessive inheritance
OMIM:614067	AP4S1	11154	HP:0001347	Hyperreflexia
OMIM:614067	AP4S1	11154	HP:0000448	Prominent nose
OMIM:614067	AP4S1	11154	HP:0100021	Cerebral palsy
OMIM:614067	AP4S1	11154	HP:0003577	Congenital onset
OMIM:614067	AP4S1	11154	HP:0001263	Global developmental delay
OMIM:614067	AP4S1	11154	HP:0003487	Babinski sign
OMIM:614067	AP4S1	11154	HP:0000218	High palate
OMIM:614067	AP4S1	11154	HP:0001371	Flexion contracture
OMIM:614067	AP4S1	11154	HP:0004322	Short stature
OMIM:614067	AP4S1	11154	HP:0000252	Microcephaly
OMIM:614067	AP4S1	11154	HP:0001762	Talipes equinovarus
OMIM:614067	AP4S1	11154	HP:0012471	Thick vermilion border
OMIM:614067	AP4S1	11154	HP:0000322	Short philtrum
OMIM:614067	AP4S1	11154	HP:0008936	Muscular hypotonia of the trunk
OMIM:614067	AP4S1	11154	HP:0000280	Coarse facial features
OMIM:614067	AP4S1	11154	HP:0000154	Wide mouth
OMIM:614067	AP4S1	11154	HP:0000414	Bulbous nose
OMIM:614067	AP4S1	11154	HP:0006957	Loss of ability to walk
OMIM:614067	AP4S1	11154	HP:0000316	Hypertelorism
OMIM:614067	AP4S1	11154	HP:0001258	Spastic paraplegia
OMIM:614067	AP4S1	11154	HP:0000297	Facial hypotonia
OMIM:614067	AP4S1	11154	HP:0000431	Wide nasal bridge
OMIM:614067	AP4S1	11154	HP:0010864	Intellectual disability, severe
OMIM:614300	ADK	132	HP:0002904	Hyperbilirubinemia
OMIM:614300	ADK	132	HP:0001290	Generalized hypotonia
OMIM:614300	ADK	132	HP:0003676	Progressive
OMIM:614300	ADK	132	HP:0003593	Infantile onset
OMIM:614300	ADK	132	HP:0002465	Poor speech
OMIM:614300	ADK	132	HP:0001263	Global developmental delay
OMIM:614300	ADK	132	HP:0003235	Hypermethioninemia
OMIM:614300	ADK	132	HP:0002007	Frontal bossing
OMIM:614300	ADK	132	HP:0001396	Cholestasis
OMIM:614300	ADK	132	HP:0000750	Delayed speech and language development
OMIM:614300	ADK	132	HP:0001410	Decreased liver function
OMIM:614300	ADK	132	HP:0000316	Hypertelorism
OMIM:614300	ADK	132	HP:0001508	Failure to thrive
OMIM:614300	ADK	132	HP:0001250	Seizures
OMIM:614300	ADK	132	HP:0001397	Hepatic steatosis
OMIM:614300	ADK	132	HP:0002059	Cerebral atrophy
OMIM:614300	ADK	132	HP:0002910	Elevated hepatic transaminases
OMIM:614300	ADK	132	HP:0000007	Autosomal recessive inheritance
OMIM:614300	ADK	132	HP:0000256	Macrocephaly
OMIM:614300	ADK	132	HP:0001786	Narrow foot
OMIM:614300	ADK	132	HP:0006580	Portal fibrosis
OMIM:614300	ADK	132	HP:0003202	Skeletal muscle atrophy
OMIM:600208	MYH9	4627	HP:0000079	Abnormality of the urinary system
OMIM:600208	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600208	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:600208	MYH9	4627	HP:0040185	Macrothrombocytopenia
OMIM:600208	MYH9	4627	HP:0000478	Abnormality of the eye
OMIM:600208	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:600208	MYH9	4627	HP:0001902	Giant platelets
OMIM:600208	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:615214	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:615214	PIK3R1	5295	HP:0001875	Neutropenia
OMIM:615214	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
OMIM:615214	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:615214	PIK3R1	5295	HP:0003593	Infantile onset
OMIM:603546	KIF22	3835	HP:0002857	Genu valgum
OMIM:603546	KIF22	3835	HP:0000272	Malar flattening
OMIM:603546	KIF22	3835	HP:0010582	Irregular epiphyses
OMIM:603546	KIF22	3835	HP:0003301	Irregular vertebral endplates
OMIM:603546	KIF22	3835	HP:0005121	Posterior scalloping of vertebral bodies
OMIM:603546	KIF22	3835	HP:0000977	Soft skin
OMIM:603546	KIF22	3835	HP:0002650	Scoliosis
OMIM:603546	KIF22	3835	HP:0010585	Small epiphyses
OMIM:603546	KIF22	3835	HP:0012299	Long distal phalanx of finger
OMIM:603546	KIF22	3835	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:603546	KIF22	3835	HP:0003370	Flat capital femoral epiphysis
OMIM:603546	KIF22	3835	HP:0008457	Caudal interpedicular narrowing
OMIM:603546	KIF22	3835	HP:0010301	Spinal dysraphism
OMIM:603546	KIF22	3835	HP:0005092	Streaky metaphyseal sclerosis
OMIM:603546	KIF22	3835	HP:0003015	Flared metaphysis
OMIM:603546	KIF22	3835	HP:0000006	Autosomal dominant inheritance
OMIM:603546	KIF22	3835	HP:0003025	Metaphyseal irregularity
OMIM:603546	KIF22	3835	HP:0012296	Slender distal phalanx of finger
OMIM:603546	KIF22	3835	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:603546	KIF22	3835	HP:0001374	Congenital hip dislocation
OMIM:603546	KIF22	3835	HP:0004322	Short stature
OMIM:603546	KIF22	3835	HP:0005008	Large joint dislocations
OMIM:603546	KIF22	3835	HP:0008819	Narrow femoral neck
OMIM:603546	KIF22	3835	HP:0001388	Joint laxity
OMIM:603546	KIF22	3835	HP:0001290	Generalized hypotonia
OMIM:603546	KIF22	3835	HP:0001498	Carpal bone hypoplasia
OMIM:603546	KIF22	3835	HP:0009836	Broad distal phalanx of finger
OMIM:603546	KIF22	3835	HP:0003083	Dislocated radial head
OMIM:603546	KIF22	3835	HP:0006454	Delayed patellar ossification
OMIM:603546	KIF22	3835	HP:0011800	Midface retrusion
OMIM:603546	KIF22	3835	HP:0006016	Delayed phalangeal epiphyseal ossification
OMIM:603546	KIF22	3835	HP:0012297	Slender proximal phalanx of finger
OMIM:603546	KIF22	3835	HP:0006127	Long proximal phalanx of finger
ORPHA:99966	SMARCB1	6598	HP:0001376	Limitation of joint mobility
ORPHA:99966	SMARCB1	6598	HP:0000238	Hydrocephalus
ORPHA:99966	SMARCB1	6598	HP:0002076	Migraine
ORPHA:99966	SMARCB1	6598	HP:0001251	Ataxia
ORPHA:99966	SMARCB1	6598	HP:0100836	Malignant neoplasm of the central nervous system
ORPHA:99966	SMARCB1	6598	HP:0000256	Macrocephaly
ORPHA:99966	SMARCB1	6598	HP:0004374	Hemiplegia/hemiparesis
ORPHA:99966	SMARCB1	6598	HP:0004372	Reduced consciousness/confusion
ORPHA:99966	SMARCB1	6598	HP:0001324	Muscle weakness
ORPHA:99966	SMARCB1	6598	HP:0002017	Nausea and vomiting
ORPHA:99966	SMARCB1	6598	HP:0000737	Irritability
ORPHA:99966	SMARCB1	6598	HP:0001250	Seizures
ORPHA:99966	SMARCB1	6598	HP:0000741	Apathy
OMIM:193900	KRT4	3851	HP:0000006	Autosomal dominant inheritance
OMIM:193900	KRT4	3851	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:193900	KRT4	3851	HP:0002745	Oral leukoplakia
OMIM:208230	WISP3	8838	HP:0002758	Osteoarthritis
OMIM:208230	WISP3	8838	HP:0001324	Muscle weakness
OMIM:208230	WISP3	8838	HP:0003040	Arthropathy
OMIM:208230	WISP3	8838	HP:0006163	Enlarged metacarpophalangeal joints
OMIM:208230	WISP3	8838	HP:0002355	Difficulty walking
OMIM:208230	WISP3	8838	HP:0002515	Waddling gait
OMIM:208230	WISP3	8838	HP:0004637	Decreased cervical spine mobility
OMIM:208230	WISP3	8838	HP:0002812	Coxa vara
OMIM:208230	WISP3	8838	HP:0003371	Enlargement of the proximal femoral epiphysis
OMIM:208230	WISP3	8838	HP:0002970	Genu varum
OMIM:208230	WISP3	8838	HP:0003016	Metaphyseal widening
OMIM:208230	WISP3	8838	HP:0100490	Camptodactyly of finger
OMIM:208230	WISP3	8838	HP:0000939	Osteoporosis
OMIM:208230	WISP3	8838	HP:0002751	Kyphoscoliosis
OMIM:208230	WISP3	8838	HP:0001387	Joint stiffness
OMIM:208230	WISP3	8838	HP:0001386	Joint swelling
OMIM:208230	WISP3	8838	HP:0000926	Platyspondyly
OMIM:208230	WISP3	8838	HP:0003071	Flattened epiphysis
OMIM:208230	WISP3	8838	HP:0001760	Abnormality of the foot
OMIM:208230	WISP3	8838	HP:0004576	Sclerotic vertebral endplates
OMIM:208230	WISP3	8838	HP:0006247	Enlarged interphalangeal joints
OMIM:208230	WISP3	8838	HP:0010580	Enlarged epiphyses
OMIM:208230	WISP3	8838	HP:0000007	Autosomal recessive inheritance
OMIM:210200	MCCC1	56922	HP:0008872	Feeding difficulties in infancy
OMIM:210200	MCCC1	56922	HP:0001290	Generalized hypotonia
OMIM:210200	MCCC1	56922	HP:0001943	Hypoglycemia
OMIM:210200	MCCC1	56922	HP:0000007	Autosomal recessive inheritance
OMIM:210200	MCCC1	56922	HP:0001263	Global developmental delay
OMIM:210200	MCCC1	56922	HP:0004911	Episodic metabolic acidosis
OMIM:210200	MCCC1	56922	HP:0001259	Coma
OMIM:210200	MCCC1	56922	HP:0001250	Seizures
OMIM:210200	MCCC1	56922	HP:0001254	Lethargy
OMIM:210200	MCCC1	56922	HP:0002919	Ketonuria
OMIM:210200	MCCC1	56922	HP:0002013	Vomiting
OMIM:210200	MCCC1	56922	HP:0006573	Acute hepatic steatosis
OMIM:210200	MCCC1	56922	HP:0001249	Intellectual disability
OMIM:210200	MCCC1	56922	HP:0001508	Failure to thrive
OMIM:210200	MCCC1	56922	HP:0003812	Phenotypic variability
OMIM:210200	MCCC1	56922	HP:0008281	Acute hyperammonemia
OMIM:210200	MCCC1	56922	HP:0001347	Hyperreflexia
OMIM:210200	MCCC1	56922	HP:0001425	Heterogeneous
OMIM:210200	MCCC1	56922	HP:0002179	Opisthotonus
OMIM:601277	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:601277	ABCA12	26154	HP:0000656	Ectropion
OMIM:601277	ABCA12	26154	HP:0001438	Abnormality of abdomen morphology
OMIM:601277	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:601277	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	ABCA12	26154	HP:0000707	Abnormality of the nervous system
OMIM:617466	DACT1	51339	HP:0000047	Hypospadias
OMIM:617466	DACT1	51339	HP:0002650	Scoliosis
OMIM:617466	DACT1	51339	HP:0000396	Overfolded helix
OMIM:617466	DACT1	51339	HP:0003298	Spina bifida occulta
OMIM:617466	DACT1	51339	HP:0000136	Bifid uterus
OMIM:617466	DACT1	51339	HP:0000143	Rectovaginal fistula
OMIM:617466	DACT1	51339	HP:0002023	Anal atresia
OMIM:617466	DACT1	51339	HP:0004736	Crossed fused renal ectopia
OMIM:617466	DACT1	51339	HP:0000006	Autosomal dominant inheritance
OMIM:617466	DACT1	51339	HP:0000378	Cupped ear
ORPHA:1515	WDR19	57728	HP:0002007	Frontal bossing
ORPHA:1515	WDR19	57728	HP:0005692	Joint hyperflexibility
ORPHA:1515	WDR19	57728	HP:0000269	Prominent occiput
ORPHA:1515	WDR19	57728	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	WDR19	57728	HP:0008905	Rhizomelia
ORPHA:1515	WDR19	57728	HP:0000463	Anteverted nares
ORPHA:1515	WDR19	57728	HP:0008070	Sparse hair
ORPHA:1515	WDR19	57728	HP:0000286	Epicanthus
ORPHA:1515	WDR19	57728	HP:0000767	Pectus excavatum
ORPHA:1515	WDR19	57728	HP:0009882	Short distal phalanx of finger
ORPHA:1515	WDR19	57728	HP:0000691	Microdontia
ORPHA:1515	WDR19	57728	HP:0000774	Narrow chest
ORPHA:1515	WDR19	57728	HP:0001363	Craniosynostosis
ORPHA:1515	WDR19	57728	HP:0008388	Abnormal toenail morphology
ORPHA:1515	WDR19	57728	HP:0000232	Everted lower lip vermilion
ORPHA:1515	WDR19	57728	HP:0000601	Hypotelorism
ORPHA:1515	WDR19	57728	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	WDR19	57728	HP:0000268	Dolichocephaly
ORPHA:1515	WDR19	57728	HP:0001231	Abnormality of the fingernails
ORPHA:1515	WDR19	57728	HP:0000939	Osteoporosis
ORPHA:1515	WDR19	57728	HP:0001156	Brachydactyly
ORPHA:1515	WDR19	57728	HP:0006101	Finger syndactyly
ORPHA:1515	WDR19	57728	HP:0000668	Hypodontia
ORPHA:1515	IFT43	112752	HP:0002007	Frontal bossing
ORPHA:1515	IFT43	112752	HP:0005692	Joint hyperflexibility
ORPHA:1515	IFT43	112752	HP:0000269	Prominent occiput
ORPHA:1515	IFT43	112752	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	IFT43	112752	HP:0008905	Rhizomelia
ORPHA:1515	IFT43	112752	HP:0000463	Anteverted nares
ORPHA:1515	IFT43	112752	HP:0008070	Sparse hair
ORPHA:1515	IFT43	112752	HP:0000286	Epicanthus
ORPHA:1515	IFT43	112752	HP:0000767	Pectus excavatum
ORPHA:1515	IFT43	112752	HP:0009882	Short distal phalanx of finger
ORPHA:1515	IFT43	112752	HP:0000691	Microdontia
ORPHA:1515	IFT43	112752	HP:0000774	Narrow chest
ORPHA:1515	IFT43	112752	HP:0001363	Craniosynostosis
ORPHA:1515	IFT43	112752	HP:0008388	Abnormal toenail morphology
ORPHA:1515	IFT43	112752	HP:0000232	Everted lower lip vermilion
ORPHA:1515	IFT43	112752	HP:0000601	Hypotelorism
ORPHA:1515	IFT43	112752	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	IFT43	112752	HP:0000268	Dolichocephaly
ORPHA:1515	IFT43	112752	HP:0001231	Abnormality of the fingernails
ORPHA:1515	IFT43	112752	HP:0000939	Osteoporosis
ORPHA:1515	IFT43	112752	HP:0001156	Brachydactyly
ORPHA:1515	IFT43	112752	HP:0006101	Finger syndactyly
ORPHA:1515	IFT43	112752	HP:0000668	Hypodontia
ORPHA:1515	WDR35	57539	HP:0002007	Frontal bossing
ORPHA:1515	WDR35	57539	HP:0005692	Joint hyperflexibility
ORPHA:1515	WDR35	57539	HP:0000269	Prominent occiput
ORPHA:1515	WDR35	57539	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	WDR35	57539	HP:0008905	Rhizomelia
ORPHA:1515	WDR35	57539	HP:0000463	Anteverted nares
ORPHA:1515	WDR35	57539	HP:0008070	Sparse hair
ORPHA:1515	WDR35	57539	HP:0000286	Epicanthus
ORPHA:1515	WDR35	57539	HP:0000767	Pectus excavatum
ORPHA:1515	WDR35	57539	HP:0009882	Short distal phalanx of finger
ORPHA:1515	WDR35	57539	HP:0000691	Microdontia
ORPHA:1515	WDR35	57539	HP:0000774	Narrow chest
ORPHA:1515	WDR35	57539	HP:0001363	Craniosynostosis
ORPHA:1515	WDR35	57539	HP:0008388	Abnormal toenail morphology
ORPHA:1515	WDR35	57539	HP:0000232	Everted lower lip vermilion
ORPHA:1515	WDR35	57539	HP:0000601	Hypotelorism
ORPHA:1515	WDR35	57539	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	WDR35	57539	HP:0000268	Dolichocephaly
ORPHA:1515	WDR35	57539	HP:0001231	Abnormality of the fingernails
ORPHA:1515	WDR35	57539	HP:0000939	Osteoporosis
ORPHA:1515	WDR35	57539	HP:0001156	Brachydactyly
ORPHA:1515	WDR35	57539	HP:0006101	Finger syndactyly
ORPHA:1515	WDR35	57539	HP:0000668	Hypodontia
ORPHA:1515	IFT122	55764	HP:0002007	Frontal bossing
ORPHA:1515	IFT122	55764	HP:0005692	Joint hyperflexibility
ORPHA:1515	IFT122	55764	HP:0000269	Prominent occiput
ORPHA:1515	IFT122	55764	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	IFT122	55764	HP:0008905	Rhizomelia
ORPHA:1515	IFT122	55764	HP:0000463	Anteverted nares
ORPHA:1515	IFT122	55764	HP:0008070	Sparse hair
ORPHA:1515	IFT122	55764	HP:0000286	Epicanthus
ORPHA:1515	IFT122	55764	HP:0000767	Pectus excavatum
ORPHA:1515	IFT122	55764	HP:0009882	Short distal phalanx of finger
ORPHA:1515	IFT122	55764	HP:0000691	Microdontia
ORPHA:1515	IFT122	55764	HP:0000774	Narrow chest
ORPHA:1515	IFT122	55764	HP:0001363	Craniosynostosis
ORPHA:1515	IFT122	55764	HP:0008388	Abnormal toenail morphology
ORPHA:1515	IFT122	55764	HP:0000232	Everted lower lip vermilion
ORPHA:1515	IFT122	55764	HP:0000601	Hypotelorism
ORPHA:1515	IFT122	55764	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	IFT122	55764	HP:0000268	Dolichocephaly
ORPHA:1515	IFT122	55764	HP:0001231	Abnormality of the fingernails
ORPHA:1515	IFT122	55764	HP:0000939	Osteoporosis
ORPHA:1515	IFT122	55764	HP:0001156	Brachydactyly
ORPHA:1515	IFT122	55764	HP:0006101	Finger syndactyly
ORPHA:1515	IFT122	55764	HP:0000668	Hypodontia
ORPHA:1515	IFT52	51098	HP:0002007	Frontal bossing
ORPHA:1515	IFT52	51098	HP:0005692	Joint hyperflexibility
ORPHA:1515	IFT52	51098	HP:0000269	Prominent occiput
ORPHA:1515	IFT52	51098	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	IFT52	51098	HP:0008905	Rhizomelia
ORPHA:1515	IFT52	51098	HP:0000463	Anteverted nares
ORPHA:1515	IFT52	51098	HP:0008070	Sparse hair
ORPHA:1515	IFT52	51098	HP:0000286	Epicanthus
ORPHA:1515	IFT52	51098	HP:0000767	Pectus excavatum
ORPHA:1515	IFT52	51098	HP:0009882	Short distal phalanx of finger
ORPHA:1515	IFT52	51098	HP:0000691	Microdontia
ORPHA:1515	IFT52	51098	HP:0000774	Narrow chest
ORPHA:1515	IFT52	51098	HP:0001363	Craniosynostosis
ORPHA:1515	IFT52	51098	HP:0008388	Abnormal toenail morphology
ORPHA:1515	IFT52	51098	HP:0000232	Everted lower lip vermilion
ORPHA:1515	IFT52	51098	HP:0000601	Hypotelorism
ORPHA:1515	IFT52	51098	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	IFT52	51098	HP:0000268	Dolichocephaly
ORPHA:1515	IFT52	51098	HP:0001231	Abnormality of the fingernails
ORPHA:1515	IFT52	51098	HP:0000939	Osteoporosis
ORPHA:1515	IFT52	51098	HP:0001156	Brachydactyly
ORPHA:1515	IFT52	51098	HP:0006101	Finger syndactyly
ORPHA:1515	IFT52	51098	HP:0000668	Hypodontia
OMIM:611126	ACAD9	28976	HP:0002181	Cerebral edema
OMIM:611126	ACAD9	28976	HP:0001399	Hepatic failure
OMIM:611126	ACAD9	28976	HP:0001298	Encephalopathy
OMIM:611126	ACAD9	28976	HP:0001324	Muscle weakness
OMIM:611126	ACAD9	28976	HP:0001644	Dilated cardiomyopathy
OMIM:611126	ACAD9	28976	HP:0001873	Thrombocytopenia
OMIM:611126	ACAD9	28976	HP:0003546	Exercise intolerance
OMIM:611126	ACAD9	28976	HP:0001290	Generalized hypotonia
OMIM:611126	ACAD9	28976	HP:0001414	Microvesicular hepatic steatosis
OMIM:611126	ACAD9	28976	HP:0000007	Autosomal recessive inheritance
OMIM:611126	ACAD9	28976	HP:0001297	Stroke
OMIM:611126	ACAD9	28976	HP:0001943	Hypoglycemia
OMIM:611126	ACAD9	28976	HP:0001635	Congestive heart failure
OMIM:611126	ACAD9	28976	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611126	ACAD9	28976	HP:0003128	Lactic acidosis
OMIM:611126	ACAD9	28976	HP:0002910	Elevated hepatic transaminases
OMIM:612018	SLC16A12	387700	HP:0000006	Autosomal dominant inheritance
OMIM:612018	SLC16A12	387700	HP:0000482	Microcornea
OMIM:612018	SLC16A12	387700	HP:0003076	Glycosuria
OMIM:612018	SLC16A12	387700	HP:0000518	Cataract
ORPHA:626	MC1R	4157	HP:0005600	Congenital giant melanocytic nevus
ORPHA:626	MC1R	4157	HP:0002230	Generalized hirsutism
ORPHA:626	NRAS	4893	HP:0005600	Congenital giant melanocytic nevus
ORPHA:626	NRAS	4893	HP:0002230	Generalized hirsutism
OMIM:614861	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:614838	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:614838	NSMF	26012	HP:0000939	Osteoporosis
OMIM:614838	NSMF	26012	HP:0410030	Cleft lip
OMIM:614838	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:614838	NSMF	26012	HP:0000175	Cleft palate
OMIM:614838	NSMF	26012	HP:0030084	Clinodactyly
OMIM:614838	NSMF	26012	HP:0000054	Micropenis
OMIM:614838	NSMF	26012	HP:0000771	Gynecomastia
OMIM:239500	PRODH	5625	HP:0008358	Hyperprolinemia
OMIM:239500	PRODH	5625	HP:0001249	Intellectual disability
OMIM:239500	PRODH	5625	HP:0003080	Hydroxyprolinuria
OMIM:239500	PRODH	5625	HP:0000718	Aggressive behavior
OMIM:239500	PRODH	5625	HP:0002353	EEG abnormality
OMIM:239500	PRODH	5625	HP:0003108	Hyperglycinuria
OMIM:239500	PRODH	5625	HP:0001290	Generalized hypotonia
OMIM:239500	PRODH	5625	HP:0001263	Global developmental delay
OMIM:239500	PRODH	5625	HP:0000733	Stereotypy
OMIM:239500	PRODH	5625	HP:0002133	Status epilepticus
OMIM:239500	PRODH	5625	HP:0003812	Phenotypic variability
OMIM:239500	PRODH	5625	HP:0000007	Autosomal recessive inheritance
OMIM:239500	PRODH	5625	HP:0000752	Hyperactivity
OMIM:239500	PRODH	5625	HP:0003137	Prolinuria
OMIM:605130	KMT2A	4297	HP:0000316	Hypertelorism
OMIM:605130	KMT2A	4297	HP:0000574	Thick eyebrow
OMIM:605130	KMT2A	4297	HP:0000581	Blepharophimosis
OMIM:605130	KMT2A	4297	HP:0000219	Thin upper lip vermilion
OMIM:605130	KMT2A	4297	HP:0000750	Delayed speech and language development
OMIM:605130	KMT2A	4297	HP:0001249	Intellectual disability
OMIM:605130	KMT2A	4297	HP:0001290	Generalized hypotonia
OMIM:605130	KMT2A	4297	HP:0000445	Wide nose
OMIM:605130	KMT2A	4297	HP:0004322	Short stature
OMIM:605130	KMT2A	4297	HP:0000006	Autosomal dominant inheritance
OMIM:605130	KMT2A	4297	HP:0004209	Clinodactyly of the 5th finger
OMIM:605130	KMT2A	4297	HP:0000486	Strabismus
OMIM:605130	KMT2A	4297	HP:0000494	Downslanted palpebral fissures
OMIM:605130	KMT2A	4297	HP:0000369	Low-set ears
OMIM:605130	KMT2A	4297	HP:0000218	High palate
OMIM:605130	KMT2A	4297	HP:0002136	Broad-based gait
OMIM:605130	KMT2A	4297	HP:0012368	Flat face
OMIM:605130	KMT2A	4297	HP:0000664	Synophrys
OMIM:605130	KMT2A	4297	HP:0005819	Short middle phalanx of finger
OMIM:605130	KMT2A	4297	HP:0001508	Failure to thrive
OMIM:605130	KMT2A	4297	HP:0000718	Aggressive behavior
OMIM:605130	KMT2A	4297	HP:0000286	Epicanthus
OMIM:605130	KMT2A	4297	HP:0000343	Long philtrum
OMIM:605130	KMT2A	4297	HP:0001831	Short toe
OMIM:611590	SLC4A1	6521	HP:0001433	Hepatosplenomegaly
OMIM:611590	SLC4A1	6521	HP:0001508	Failure to thrive
OMIM:611590	SLC4A1	6521	HP:0002039	Anorexia
OMIM:611590	SLC4A1	6521	HP:0002900	Hypokalemia
OMIM:611590	SLC4A1	6521	HP:0030036	Isothenuria
OMIM:611590	SLC4A1	6521	HP:0001942	Metabolic acidosis
OMIM:611590	SLC4A1	6521	HP:0004322	Short stature
OMIM:611590	SLC4A1	6521	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:611590	SLC4A1	6521	HP:0000121	Nephrocalcinosis
OMIM:611590	SLC4A1	6521	HP:0000007	Autosomal recessive inheritance
OMIM:611590	SLC4A1	6521	HP:0008341	Distal renal tubular acidosis
OMIM:611590	SLC4A1	6521	HP:0001254	Lethargy
OMIM:611590	SLC4A1	6521	HP:0002748	Rickets
OMIM:611590	SLC4A1	6521	HP:0000980	Pallor
ORPHA:399	SLC2A3	6515	HP:0100022	Abnormality of movement
ORPHA:399	SLC2A3	6515	HP:0002353	EEG abnormality
ORPHA:399	SLC2A3	6515	HP:0002120	Cerebral cortical atrophy
ORPHA:399	SLC2A3	6515	HP:0002376	Developmental regression
ORPHA:399	SLC2A3	6515	HP:0001608	Abnormality of the voice
ORPHA:399	SLC2A3	6515	HP:0000708	Behavioral abnormality
ORPHA:399	SLC2A3	6515	HP:0001257	Spasticity
ORPHA:399	SLC2A3	6515	HP:0000726	Dementia
ORPHA:399	HTT	3064	HP:0100022	Abnormality of movement
ORPHA:399	HTT	3064	HP:0002353	EEG abnormality
ORPHA:399	HTT	3064	HP:0002120	Cerebral cortical atrophy
ORPHA:399	HTT	3064	HP:0002376	Developmental regression
ORPHA:399	HTT	3064	HP:0001608	Abnormality of the voice
ORPHA:399	HTT	3064	HP:0000708	Behavioral abnormality
ORPHA:399	HTT	3064	HP:0001257	Spasticity
ORPHA:399	HTT	3064	HP:0000726	Dementia
OMIM:264700	CYP27B1	1594	HP:0002199	Hypocalcemic seizures
OMIM:264700	CYP27B1	1594	HP:0002757	Recurrent fractures
OMIM:264700	CYP27B1	1594	HP:0003029	Enlargement of the ankles
OMIM:264700	CYP27B1	1594	HP:0000886	Deformed rib cage
OMIM:264700	CYP27B1	1594	HP:0002653	Bone pain
OMIM:264700	CYP27B1	1594	HP:0002909	Generalized aminoaciduria
OMIM:264700	CYP27B1	1594	HP:0000684	Delayed eruption of teeth
OMIM:264700	CYP27B1	1594	HP:0000867	Secondary hyperparathyroidism
OMIM:264700	CYP27B1	1594	HP:0002753	Thin bony cortex
OMIM:264700	CYP27B1	1594	HP:0001290	Generalized hypotonia
OMIM:264700	CYP27B1	1594	HP:0003020	Enlargement of the wrists
OMIM:264700	CYP27B1	1594	HP:0000737	Irritability
OMIM:264700	CYP27B1	1594	HP:0001270	Motor delay
OMIM:264700	CYP27B1	1594	HP:0002752	Sparse bone trabeculae
OMIM:264700	CYP27B1	1594	HP:0004492	Widely patent fontanelles and sutures
OMIM:264700	CYP27B1	1594	HP:0006297	Hypoplasia of dental enamel
OMIM:264700	CYP27B1	1594	HP:0001508	Failure to thrive
OMIM:264700	CYP27B1	1594	HP:0002982	Tibial bowing
OMIM:264700	CYP27B1	1594	HP:0003155	Elevated alkaline phosphatase
OMIM:264700	CYP27B1	1594	HP:0000920	Enlargement of the costochondral junction
OMIM:264700	CYP27B1	1594	HP:0003025	Metaphyseal irregularity
OMIM:264700	CYP27B1	1594	HP:0001510	Growth delay
OMIM:264700	CYP27B1	1594	HP:0002663	Delayed epiphyseal ossification
OMIM:264700	CYP27B1	1594	HP:0002979	Bowing of the legs
OMIM:264700	CYP27B1	1594	HP:0001538	Protuberant abdomen
OMIM:264700	CYP27B1	1594	HP:0002007	Frontal bossing
OMIM:264700	CYP27B1	1594	HP:0002748	Rickets
OMIM:264700	CYP27B1	1594	HP:0003106	Subperiosteal bone resorption
OMIM:264700	CYP27B1	1594	HP:0002148	Hypophosphatemia
OMIM:264700	CYP27B1	1594	HP:0009023	Abdominal wall muscle weakness
OMIM:264700	CYP27B1	1594	HP:0002355	Difficulty walking
OMIM:264700	CYP27B1	1594	HP:0003013	Bulging epiphyses
OMIM:264700	CYP27B1	1594	HP:0000007	Autosomal recessive inheritance
OMIM:264700	CYP27B1	1594	HP:0000893	Bulging of the costochondral junction
OMIM:264700	CYP27B1	1594	HP:0002980	Femoral bowing
OMIM:264700	CYP27B1	1594	HP:0003698	Difficulty standing
OMIM:264700	CYP27B1	1594	HP:0005469	Flat occiput
OMIM:264700	CYP27B1	1594	HP:0010502	Fibular bowing
OMIM:264700	CYP27B1	1594	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:2323	TBCE	6905	HP:0000347	Micrognathia
ORPHA:2323	TBCE	6905	HP:0001773	Short foot
ORPHA:2323	TBCE	6905	HP:0002750	Delayed skeletal maturation
ORPHA:2323	TBCE	6905	HP:0002905	Hyperphosphatemia
ORPHA:2323	TBCE	6905	HP:0005280	Depressed nasal bridge
ORPHA:2323	TBCE	6905	HP:0000252	Microcephaly
ORPHA:2323	TBCE	6905	HP:0008572	External ear malformation
ORPHA:2323	TBCE	6905	HP:0008846	Severe intrauterine growth retardation
ORPHA:2323	TBCE	6905	HP:0000490	Deeply set eye
ORPHA:2323	TBCE	6905	HP:0000233	Thin vermilion border
ORPHA:2323	TBCE	6905	HP:0004322	Short stature
ORPHA:2323	TBCE	6905	HP:0001250	Seizures
ORPHA:2323	TBCE	6905	HP:0002901	Hypocalcemia
ORPHA:2323	TBCE	6905	HP:0008198	Congenital hypoparathyroidism
ORPHA:2323	TBCE	6905	HP:0008897	Postnatal growth retardation
ORPHA:2323	TBCE	6905	HP:0000444	Convex nasal ridge
ORPHA:2323	TBCE	6905	HP:0002205	Recurrent respiratory infections
ORPHA:2323	TBCE	6905	HP:0000348	High forehead
ORPHA:2323	TBCE	6905	HP:0000682	Abnormality of dental enamel
ORPHA:2323	TBCE	6905	HP:0001249	Intellectual disability
ORPHA:2323	TBCE	6905	HP:0200055	Small hand
ORPHA:2323	TBCE	6905	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2323	TBCE	6905	HP:0000343	Long philtrum
OMIM:613496	CD81	975	HP:0000979	Purpura
OMIM:613496	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:613496	CD81	975	HP:0002205	Recurrent respiratory infections
OMIM:613496	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:613496	CD81	975	HP:0002721	Immunodeficiency
OMIM:613496	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:615368	DNM2	1785	HP:0001561	Polyhydramnios
OMIM:615368	DNM2	1785	HP:0002803	Congenital contracture
OMIM:615368	DNM2	1785	HP:0001522	Death in infancy
OMIM:615368	DNM2	1785	HP:0001558	Decreased fetal movement
OMIM:615368	DNM2	1785	HP:0003577	Congenital onset
OMIM:615368	DNM2	1785	HP:0000573	Retinal hemorrhage
OMIM:615368	DNM2	1785	HP:0000762	Decreased nerve conduction velocity
OMIM:615368	DNM2	1785	HP:0000883	Thin ribs
OMIM:615368	DNM2	1785	HP:0000007	Autosomal recessive inheritance
OMIM:615368	DNM2	1785	HP:0002093	Respiratory insufficiency
OMIM:615368	DNM2	1785	HP:0001284	Areflexia
OMIM:615368	DNM2	1785	HP:0001518	Small for gestational age
OMIM:615368	DNM2	1785	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615368	DNM2	1785	HP:0001290	Generalized hypotonia
OMIM:615368	DNM2	1785	HP:0003687	Centrally nucleated skeletal muscle fibers
ORPHA:2301	CLMP	79827	HP:0001006	Hypotrichosis
ORPHA:2301	CLMP	79827	HP:0005245	Intestinal hypoplasia
ORPHA:2301	CLMP	79827	HP:0100578	Lipoatrophy
ORPHA:2301	CLMP	79827	HP:0002566	Intestinal malrotation
ORPHA:2301	CLMP	79827	HP:0100543	Cognitive impairment
ORPHA:2301	CLMP	79827	HP:0004322	Short stature
ORPHA:2301	FLNA	2316	HP:0001006	Hypotrichosis
ORPHA:2301	FLNA	2316	HP:0005245	Intestinal hypoplasia
ORPHA:2301	FLNA	2316	HP:0100578	Lipoatrophy
ORPHA:2301	FLNA	2316	HP:0002566	Intestinal malrotation
ORPHA:2301	FLNA	2316	HP:0100543	Cognitive impairment
ORPHA:2301	FLNA	2316	HP:0004322	Short stature
OMIM:614679	CCDC103	388389	HP:0003577	Congenital onset
OMIM:614679	CCDC103	388389	HP:0012265	Ciliary dyskinesia
OMIM:614679	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:614679	CCDC103	388389	HP:0002257	Chronic rhinitis
OMIM:614679	CCDC103	388389	HP:0005938	Abnormal respiratory motile cilium morphology
OMIM:616958	CDC14A	8556	HP:0000007	Autosomal recessive inheritance
OMIM:610878	ROBO2	6092	HP:0000006	Autosomal dominant inheritance
OMIM:610878	ROBO2	6092	HP:0000089	Renal hypoplasia
OMIM:610878	ROBO2	6092	HP:0000076	Vesicoureteral reflux
OMIM:268200	LPIN1	23175	HP:0003236	Elevated serum creatine phosphokinase
OMIM:268200	LPIN1	23175	HP:0001284	Areflexia
OMIM:268200	LPIN1	23175	HP:0002913	Myoglobinuria
OMIM:268200	LPIN1	23175	HP:0002153	Hyperkalemia
OMIM:268200	LPIN1	23175	HP:0000007	Autosomal recessive inheritance
OMIM:268200	LPIN1	23175	HP:0001919	Acute kidney injury
OMIM:268200	LPIN1	23175	HP:0008942	Acute rhabdomyolysis
OMIM:268200	LPIN1	23175	HP:0001265	Hyporeflexia
OMIM:268200	LPIN1	23175	HP:0001324	Muscle weakness
OMIM:268200	LPIN1	23175	HP:0001945	Fever
OMIM:268200	LPIN1	23175	HP:0003326	Myalgia
OMIM:616721	SLC39A8	64116	HP:0000639	Nystagmus
OMIM:616721	SLC39A8	64116	HP:0001263	Global developmental delay
OMIM:616721	SLC39A8	64116	HP:0000486	Strabismus
OMIM:616721	SLC39A8	64116	HP:0002540	Inability to walk
OMIM:616721	SLC39A8	64116	HP:0000007	Autosomal recessive inheritance
OMIM:616721	SLC39A8	64116	HP:0000483	Astigmatism
OMIM:616721	SLC39A8	64116	HP:0001290	Generalized hypotonia
OMIM:616721	SLC39A8	64116	HP:0002187	Intellectual disability, profound
OMIM:616721	SLC39A8	64116	HP:0004322	Short stature
OMIM:616721	SLC39A8	64116	HP:0001272	Cerebellar atrophy
OMIM:616721	SLC39A8	64116	HP:0003577	Congenital onset
OMIM:609508	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:609508	COL2A1	1280	HP:0012230	Rhegmatogenous retinal detachment
OMIM:609508	COL2A1	1280	HP:0000545	Myopia
OMIM:609508	COL2A1	1280	HP:0004327	Abnormality of the vitreous humor
ORPHA:98766	SPTBN2	6712	HP:0001288	Gait disturbance
ORPHA:98766	SPTBN2	6712	HP:0001350	Slurred speech
ORPHA:98766	SPTBN2	6712	HP:0002311	Incoordination
ORPHA:98766	SPTBN2	6712	HP:0001272	Cerebellar atrophy
OMIM:616080	CDK6	1021	HP:0001249	Intellectual disability
OMIM:616080	CDK6	1021	HP:0000340	Sloping forehead
OMIM:616080	CDK6	1021	HP:0001256	Intellectual disability, mild
OMIM:616080	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:616080	CDK6	1021	HP:0000252	Microcephaly
OMIM:616080	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:615861	EMP2	2013	HP:0012579	Minimal change glomerulonephritis
OMIM:615861	EMP2	2013	HP:0012588	Steroid-resistant nephrotic syndrome
OMIM:615861	EMP2	2013	HP:0000007	Autosomal recessive inheritance
OMIM:131950	PLEC	5339	HP:0000978	Bruising susceptibility
OMIM:131950	PLEC	5339	HP:0008401	Onychogryposis of toenails
OMIM:131950	PLEC	5339	HP:0000006	Autosomal dominant inheritance
OMIM:131950	PLEC	5339	HP:0007585	Skin fragility with non-scarring blistering
OMIM:616420	PYCR2	29920	HP:0003196	Short nose
OMIM:616420	PYCR2	29920	HP:0000582	Upslanted palpebral fissure
OMIM:616420	PYCR2	29920	HP:0000365	Hearing impairment
OMIM:616420	PYCR2	29920	HP:0001263	Global developmental delay
OMIM:616420	PYCR2	29920	HP:0000343	Long philtrum
OMIM:616420	PYCR2	29920	HP:0001166	Arachnodactyly
OMIM:616420	PYCR2	29920	HP:0000463	Anteverted nares
OMIM:616420	PYCR2	29920	HP:0000494	Downslanted palpebral fissures
OMIM:616420	PYCR2	29920	HP:0000369	Low-set ears
OMIM:616420	PYCR2	29920	HP:0000272	Malar flattening
OMIM:616420	PYCR2	29920	HP:0001508	Failure to thrive
OMIM:616420	PYCR2	29920	HP:0002120	Cerebral cortical atrophy
OMIM:616420	PYCR2	29920	HP:0012471	Thick vermilion border
OMIM:616420	PYCR2	29920	HP:0003676	Progressive
OMIM:616420	PYCR2	29920	HP:0003429	CNS hypomyelination
OMIM:616420	PYCR2	29920	HP:0003487	Babinski sign
OMIM:616420	PYCR2	29920	HP:0001344	Absent speech
OMIM:616420	PYCR2	29920	HP:0000414	Bulbous nose
OMIM:616420	PYCR2	29920	HP:0003202	Skeletal muscle atrophy
OMIM:616420	PYCR2	29920	HP:0000341	Narrow forehead
OMIM:616420	PYCR2	29920	HP:0002415	Leukodystrophy
OMIM:616420	PYCR2	29920	HP:0002540	Inability to walk
OMIM:616420	PYCR2	29920	HP:0000253	Progressive microcephaly
OMIM:616420	PYCR2	29920	HP:0000319	Smooth philtrum
OMIM:616420	PYCR2	29920	HP:0001257	Spasticity
OMIM:616420	PYCR2	29920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616420	PYCR2	29920	HP:0000325	Triangular face
OMIM:616420	PYCR2	29920	HP:0008936	Muscular hypotonia of the trunk
OMIM:616420	PYCR2	29920	HP:0000007	Autosomal recessive inheritance
OMIM:616420	PYCR2	29920	HP:0000252	Microcephaly
OMIM:616420	PYCR2	29920	HP:0001347	Hyperreflexia
OMIM:300215	ARX	170302	HP:0000343	Long philtrum
OMIM:300215	ARX	170302	HP:0001339	Lissencephaly
OMIM:300215	ARX	170302	HP:0009921	Duane anomaly
OMIM:300215	ARX	170302	HP:0002171	Gliosis
OMIM:300215	ARX	170302	HP:0001302	Pachygyria
OMIM:300215	ARX	170302	HP:0000431	Wide nasal bridge
OMIM:300215	ARX	170302	HP:0001257	Spasticity
OMIM:300215	ARX	170302	HP:0011344	Severe global developmental delay
OMIM:300215	ARX	170302	HP:0001347	Hyperreflexia
OMIM:300215	ARX	170302	HP:0000260	Wide anterior fontanel
OMIM:300215	ARX	170302	HP:0012736	Profound global developmental delay
OMIM:300215	ARX	170302	HP:0000348	High forehead
OMIM:300215	ARX	170302	HP:0000369	Low-set ears
OMIM:300215	ARX	170302	HP:0001290	Generalized hypotonia
OMIM:300215	ARX	170302	HP:0000062	Ambiguous genitalia
OMIM:300215	ARX	170302	HP:0000219	Thin upper lip vermilion
OMIM:300215	ARX	170302	HP:0008872	Feeding difficulties in infancy
OMIM:300215	ARX	170302	HP:0001274	Agenesis of corpus callosum
OMIM:300215	ARX	170302	HP:0000426	Prominent nasal bridge
OMIM:300215	ARX	170302	HP:0001250	Seizures
OMIM:300215	ARX	170302	HP:0001328	Specific learning disability
OMIM:300215	ARX	170302	HP:0002014	Diarrhea
OMIM:300215	ARX	170302	HP:0011341	Long upper lip
OMIM:300215	ARX	170302	HP:0000347	Micrognathia
OMIM:300215	ARX	170302	HP:0002119	Ventriculomegaly
OMIM:300215	ARX	170302	HP:0000218	High palate
OMIM:300215	ARX	170302	HP:0000054	Micropenis
OMIM:300215	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300215	ARX	170302	HP:0008734	Decreased testicular size
OMIM:609242	NAGA	4668	HP:0003409	Distal sensory impairment of all modalities
OMIM:609242	NAGA	4668	HP:0002059	Cerebral atrophy
OMIM:609242	NAGA	4668	HP:0005280	Depressed nasal bridge
OMIM:609242	NAGA	4668	HP:0000962	Hyperkeratosis
OMIM:609242	NAGA	4668	HP:0003355	Aminoaciduria
OMIM:609242	NAGA	4668	HP:0006812	White mater abnormalities in the posterior periventricular region
OMIM:609242	NAGA	4668	HP:0000478	Abnormality of the eye
OMIM:609242	NAGA	4668	HP:0100543	Cognitive impairment
OMIM:609242	NAGA	4668	HP:0001256	Intellectual disability, mild
OMIM:609242	NAGA	4668	HP:0040078	Axonal degeneration
OMIM:609242	NAGA	4668	HP:0002321	Vertigo
OMIM:609242	NAGA	4668	HP:0001004	Lymphedema
OMIM:609242	NAGA	4668	HP:0000179	Thick lower lip vermilion
OMIM:609242	NAGA	4668	HP:0000958	Dry skin
OMIM:609242	NAGA	4668	HP:0000007	Autosomal recessive inheritance
OMIM:609242	NAGA	4668	HP:0000214	Lip telangiectasia
OMIM:609242	NAGA	4668	HP:0000407	Sensorineural hearing impairment
OMIM:609242	NAGA	4668	HP:0002460	Distal muscle weakness
OMIM:609242	NAGA	4668	HP:0003581	Adult onset
OMIM:609242	NAGA	4668	HP:0003461	Increased urinary O-linked sialopeptides
OMIM:609242	NAGA	4668	HP:0003477	Peripheral axonal neuropathy
OMIM:609242	NAGA	4668	HP:0007428	Telangiectasia of the oral mucosa
OMIM:609242	NAGA	4668	HP:0002936	Distal sensory impairment
OMIM:609242	NAGA	4668	HP:0001071	Angiokeratoma corporis diffusum
OMIM:609242	NAGA	4668	HP:0000280	Coarse facial features
OMIM:166600	CLCN7	1186	HP:0001425	Heterogeneous
OMIM:166600	CLCN7	1186	HP:0003084	Fractures of the long bones
OMIM:166600	CLCN7	1186	HP:0007626	Mandibular osteomyelitis
OMIM:166600	CLCN7	1186	HP:0008843	Hip osteoarthritis
OMIM:166600	CLCN7	1186	HP:0000006	Autosomal dominant inheritance
OMIM:166600	CLCN7	1186	HP:0003148	Elevated serum acid phosphatase
OMIM:166600	CLCN7	1186	HP:0003621	Juvenile onset
OMIM:166600	CLCN7	1186	HP:0011002	Osteopetrosis
OMIM:166600	CLCN7	1186	HP:0007209	Facial paralysis
OMIM:166600	CLCN7	1186	HP:0005789	Generalized osteosclerosis
OMIM:166600	CLCN7	1186	HP:0000572	Visual loss
OMIM:166600	CLCN7	1186	HP:0002757	Recurrent fractures
OMIM:166600	CLCN7	1186	HP:0005106	Abnormality of the vertebral endplates
OMIM:166600	CLCN7	1186	HP:0010628	Facial palsy
OMIM:166600	CLCN7	1186	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:616324	CHRNE	1145	HP:0001319	Neonatal hypotonia
OMIM:616324	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616324	CHRNE	1145	HP:0000508	Ptosis
OMIM:616324	CHRNE	1145	HP:0000467	Neck muscle weakness
OMIM:616324	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:616324	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616324	CHRNE	1145	HP:0003593	Infantile onset
OMIM:616324	CHRNE	1145	HP:0003388	Easy fatigability
OMIM:616324	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616324	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:616324	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:614021	TECRL	253017	HP:0001699	Sudden death
OMIM:614021	TECRL	253017	HP:0004756	Ventricular tachycardia
OMIM:614021	TECRL	253017	HP:0001279	Syncope
OMIM:614021	TECRL	253017	HP:0000007	Autosomal recessive inheritance
ORPHA:2151	PHOX2B	8929	HP:0001250	Seizures
ORPHA:2151	PHOX2B	8929	HP:0006747	Ganglioneuroblastoma
ORPHA:2151	PHOX2B	8929	HP:0002251	Aganglionic megacolon
ORPHA:2151	PHOX2B	8929	HP:0000975	Hyperhidrosis
ORPHA:2151	PHOX2B	8929	HP:0001657	Prolonged QT interval
ORPHA:2151	PHOX2B	8929	HP:0011675	Arrhythmia
ORPHA:2151	PHOX2B	8929	HP:0000615	Abnormality of the pupil
ORPHA:89936	PHEX	5251	HP:0002970	Genu varum
ORPHA:89936	PHEX	5251	HP:0002748	Rickets
ORPHA:89936	PHEX	5251	HP:0002148	Hypophosphatemia
ORPHA:89936	PHEX	5251	HP:0000944	Abnormality of the metaphysis
ORPHA:89936	PHEX	5251	HP:0001363	Craniosynostosis
ORPHA:89936	PHEX	5251	HP:0100686	Enthesitis
ORPHA:89936	PHEX	5251	HP:0000897	Rachitic rosary
ORPHA:89936	PHEX	5251	HP:0002758	Osteoarthritis
ORPHA:89936	PHEX	5251	HP:0000682	Abnormality of dental enamel
ORPHA:89936	PHEX	5251	HP:0004322	Short stature
ORPHA:89936	PHEX	5251	HP:0002653	Bone pain
ORPHA:89936	PHEX	5251	HP:0002749	Osteomalacia
ORPHA:89936	PHEX	5251	HP:0001373	Joint dislocation
ORPHA:89936	PHEX	5251	HP:0030757	Tooth abscess
OMIM:607602	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:607602	KRT10	3858	HP:0000972	Palmoplantar hyperkeratosis
OMIM:607602	KRT10	3858	HP:0010783	Erythema
OMIM:607602	KRT10	3858	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:607602	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:607602	KRT1	3848	HP:0000972	Palmoplantar hyperkeratosis
OMIM:607602	KRT1	3848	HP:0010783	Erythema
OMIM:607602	KRT1	3848	HP:0007475	Congenital bullous ichthyosiform erythroderma
OMIM:606176	ABCC8	6833	HP:0002521	Hypsarrhythmia
OMIM:606176	ABCC8	6833	HP:0002714	Downturned corners of mouth
OMIM:606176	ABCC8	6833	HP:0003196	Short nose
OMIM:606176	ABCC8	6833	HP:0006279	Beta-cell dysfunction
OMIM:606176	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:606176	ABCC8	6833	HP:0005487	Prominent metopic ridge
OMIM:606176	ABCC8	6833	HP:0001270	Motor delay
OMIM:606176	ABCC8	6833	HP:0001511	Intrauterine growth retardation
OMIM:606176	ABCC8	6833	HP:0000598	Abnormality of the ear
OMIM:606176	ABCC8	6833	HP:0002715	Abnormality of the immune system
OMIM:606176	ABCC8	6833	HP:0000343	Long philtrum
OMIM:606176	ABCC8	6833	HP:0001324	Muscle weakness
OMIM:606176	ABCC8	6833	HP:0003074	Hyperglycemia
OMIM:606176	ABCC8	6833	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	ABCC8	6833	HP:0001263	Global developmental delay
OMIM:606176	ABCC8	6833	HP:0009830	Peripheral neuropathy
OMIM:606176	ABCC8	6833	HP:0001250	Seizures
OMIM:606176	ABCC8	6833	HP:0030084	Clinodactyly
OMIM:606176	ABCC8	6833	HP:0003121	Limb joint contracture
OMIM:606176	ABCC8	6833	HP:0000463	Anteverted nares
OMIM:606176	ABCC8	6833	HP:0009466	Radial deviation of finger
OMIM:606176	ABCC8	6833	HP:0001993	Ketoacidosis
OMIM:606176	ABCC8	6833	HP:0001518	Small for gestational age
OMIM:606176	ABCC8	6833	HP:0000508	Ptosis
OMIM:606176	ABCC8	6833	HP:0000819	Diabetes mellitus
OMIM:606176	PDX1	3651	HP:0002521	Hypsarrhythmia
OMIM:606176	PDX1	3651	HP:0002714	Downturned corners of mouth
OMIM:606176	PDX1	3651	HP:0003196	Short nose
OMIM:606176	PDX1	3651	HP:0006279	Beta-cell dysfunction
OMIM:606176	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:606176	PDX1	3651	HP:0005487	Prominent metopic ridge
OMIM:606176	PDX1	3651	HP:0001270	Motor delay
OMIM:606176	PDX1	3651	HP:0001511	Intrauterine growth retardation
OMIM:606176	PDX1	3651	HP:0000598	Abnormality of the ear
OMIM:606176	PDX1	3651	HP:0002715	Abnormality of the immune system
OMIM:606176	PDX1	3651	HP:0000343	Long philtrum
OMIM:606176	PDX1	3651	HP:0001324	Muscle weakness
OMIM:606176	PDX1	3651	HP:0003074	Hyperglycemia
OMIM:606176	PDX1	3651	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	PDX1	3651	HP:0001263	Global developmental delay
OMIM:606176	PDX1	3651	HP:0009830	Peripheral neuropathy
OMIM:606176	PDX1	3651	HP:0001250	Seizures
OMIM:606176	PDX1	3651	HP:0030084	Clinodactyly
OMIM:606176	PDX1	3651	HP:0003121	Limb joint contracture
OMIM:606176	PDX1	3651	HP:0000463	Anteverted nares
OMIM:606176	PDX1	3651	HP:0009466	Radial deviation of finger
OMIM:606176	PDX1	3651	HP:0001993	Ketoacidosis
OMIM:606176	PDX1	3651	HP:0001518	Small for gestational age
OMIM:606176	PDX1	3651	HP:0000508	Ptosis
OMIM:606176	PDX1	3651	HP:0000819	Diabetes mellitus
OMIM:606176	GCK	2645	HP:0002521	Hypsarrhythmia
OMIM:606176	GCK	2645	HP:0002714	Downturned corners of mouth
OMIM:606176	GCK	2645	HP:0003196	Short nose
OMIM:606176	GCK	2645	HP:0006279	Beta-cell dysfunction
OMIM:606176	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:606176	GCK	2645	HP:0005487	Prominent metopic ridge
OMIM:606176	GCK	2645	HP:0001270	Motor delay
OMIM:606176	GCK	2645	HP:0001511	Intrauterine growth retardation
OMIM:606176	GCK	2645	HP:0000598	Abnormality of the ear
OMIM:606176	GCK	2645	HP:0002715	Abnormality of the immune system
OMIM:606176	GCK	2645	HP:0000343	Long philtrum
OMIM:606176	GCK	2645	HP:0001324	Muscle weakness
OMIM:606176	GCK	2645	HP:0003074	Hyperglycemia
OMIM:606176	GCK	2645	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	GCK	2645	HP:0001263	Global developmental delay
OMIM:606176	GCK	2645	HP:0009830	Peripheral neuropathy
OMIM:606176	GCK	2645	HP:0001250	Seizures
OMIM:606176	GCK	2645	HP:0030084	Clinodactyly
OMIM:606176	GCK	2645	HP:0003121	Limb joint contracture
OMIM:606176	GCK	2645	HP:0000463	Anteverted nares
OMIM:606176	GCK	2645	HP:0009466	Radial deviation of finger
OMIM:606176	GCK	2645	HP:0001993	Ketoacidosis
OMIM:606176	GCK	2645	HP:0001518	Small for gestational age
OMIM:606176	GCK	2645	HP:0000508	Ptosis
OMIM:606176	GCK	2645	HP:0000819	Diabetes mellitus
OMIM:606176	KCNJ11	3767	HP:0002521	Hypsarrhythmia
OMIM:606176	KCNJ11	3767	HP:0002714	Downturned corners of mouth
OMIM:606176	KCNJ11	3767	HP:0003196	Short nose
OMIM:606176	KCNJ11	3767	HP:0006279	Beta-cell dysfunction
OMIM:606176	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:606176	KCNJ11	3767	HP:0005487	Prominent metopic ridge
OMIM:606176	KCNJ11	3767	HP:0001270	Motor delay
OMIM:606176	KCNJ11	3767	HP:0001511	Intrauterine growth retardation
OMIM:606176	KCNJ11	3767	HP:0000598	Abnormality of the ear
OMIM:606176	KCNJ11	3767	HP:0002715	Abnormality of the immune system
OMIM:606176	KCNJ11	3767	HP:0000343	Long philtrum
OMIM:606176	KCNJ11	3767	HP:0001324	Muscle weakness
OMIM:606176	KCNJ11	3767	HP:0003074	Hyperglycemia
OMIM:606176	KCNJ11	3767	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	KCNJ11	3767	HP:0001263	Global developmental delay
OMIM:606176	KCNJ11	3767	HP:0009830	Peripheral neuropathy
OMIM:606176	KCNJ11	3767	HP:0001250	Seizures
OMIM:606176	KCNJ11	3767	HP:0030084	Clinodactyly
OMIM:606176	KCNJ11	3767	HP:0003121	Limb joint contracture
OMIM:606176	KCNJ11	3767	HP:0000463	Anteverted nares
OMIM:606176	KCNJ11	3767	HP:0009466	Radial deviation of finger
OMIM:606176	KCNJ11	3767	HP:0001993	Ketoacidosis
OMIM:606176	KCNJ11	3767	HP:0001518	Small for gestational age
OMIM:606176	KCNJ11	3767	HP:0000508	Ptosis
OMIM:606176	KCNJ11	3767	HP:0000819	Diabetes mellitus
OMIM:606176	INS	3630	HP:0002521	Hypsarrhythmia
OMIM:606176	INS	3630	HP:0002714	Downturned corners of mouth
OMIM:606176	INS	3630	HP:0003196	Short nose
OMIM:606176	INS	3630	HP:0006279	Beta-cell dysfunction
OMIM:606176	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:606176	INS	3630	HP:0005487	Prominent metopic ridge
OMIM:606176	INS	3630	HP:0001270	Motor delay
OMIM:606176	INS	3630	HP:0001511	Intrauterine growth retardation
OMIM:606176	INS	3630	HP:0000598	Abnormality of the ear
OMIM:606176	INS	3630	HP:0002715	Abnormality of the immune system
OMIM:606176	INS	3630	HP:0000343	Long philtrum
OMIM:606176	INS	3630	HP:0001324	Muscle weakness
OMIM:606176	INS	3630	HP:0003074	Hyperglycemia
OMIM:606176	INS	3630	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	INS	3630	HP:0001263	Global developmental delay
OMIM:606176	INS	3630	HP:0009830	Peripheral neuropathy
OMIM:606176	INS	3630	HP:0001250	Seizures
OMIM:606176	INS	3630	HP:0030084	Clinodactyly
OMIM:606176	INS	3630	HP:0003121	Limb joint contracture
OMIM:606176	INS	3630	HP:0000463	Anteverted nares
OMIM:606176	INS	3630	HP:0009466	Radial deviation of finger
OMIM:606176	INS	3630	HP:0001993	Ketoacidosis
OMIM:606176	INS	3630	HP:0001518	Small for gestational age
OMIM:606176	INS	3630	HP:0000508	Ptosis
OMIM:606176	INS	3630	HP:0000819	Diabetes mellitus
ORPHA:99971	MDM2	4193	HP:0001482	Subcutaneous nodule
ORPHA:99971	CDK4	1019	HP:0001482	Subcutaneous nodule
ORPHA:99971	HMGA2	8091	HP:0001482	Subcutaneous nodule
OMIM:300000	MID1	4281	HP:0001425	Heterogeneous
OMIM:300000	MID1	4281	HP:0001419	X-linked recessive inheritance
OMIM:300000	MID1	4281	HP:0000463	Anteverted nares
OMIM:300000	MID1	4281	HP:0000219	Thin upper lip vermilion
OMIM:300000	MID1	4281	HP:0002023	Anal atresia
OMIM:300000	MID1	4281	HP:0001627	Abnormal heart morphology
OMIM:300000	MID1	4281	HP:0000204	Cleft upper lip
OMIM:300000	MID1	4281	HP:0000319	Smooth philtrum
OMIM:300000	MID1	4281	HP:0006783	Posterior pharyngeal cleft
OMIM:300000	MID1	4281	HP:0011220	Prominent forehead
OMIM:300000	MID1	4281	HP:0000028	Cryptorchidism
OMIM:300000	MID1	4281	HP:0000349	Widow's peak
OMIM:300000	MID1	4281	HP:0000175	Cleft palate
OMIM:300000	MID1	4281	HP:0001274	Agenesis of corpus callosum
OMIM:300000	MID1	4281	HP:0000218	High palate
OMIM:300000	MID1	4281	HP:0000047	Hypospadias
OMIM:300000	MID1	4281	HP:0000316	Hypertelorism
OMIM:300000	MID1	4281	HP:0000431	Wide nasal bridge
OMIM:300000	MID1	4281	HP:0000506	Telecanthus
OMIM:300000	MID1	4281	HP:0002015	Dysphagia
OMIM:300000	MID1	4281	HP:0002007	Frontal bossing
OMIM:300000	MID1	4281	HP:0002835	Aspiration
OMIM:300000	MID1	4281	HP:0001263	Global developmental delay
OMIM:300000	MID1	4281	HP:0002020	Gastroesophageal reflux
OMIM:300000	MID1	4281	HP:0001739	Abnormality of the nasopharynx
OMIM:242600	SLC36A2	153201	HP:0003080	Hydroxyprolinuria
OMIM:242600	SLC36A2	153201	HP:0003137	Prolinuria
OMIM:242600	SLC36A2	153201	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC36A2	153201	HP:0001249	Intellectual disability
OMIM:242600	SLC36A2	153201	HP:0003108	Hyperglycinuria
OMIM:242600	SLC36A2	153201	HP:0000478	Abnormality of the eye
OMIM:242600	SLC6A20	54716	HP:0003080	Hydroxyprolinuria
OMIM:242600	SLC6A20	54716	HP:0003137	Prolinuria
OMIM:242600	SLC6A20	54716	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC6A20	54716	HP:0001249	Intellectual disability
OMIM:242600	SLC6A20	54716	HP:0003108	Hyperglycinuria
OMIM:242600	SLC6A20	54716	HP:0000478	Abnormality of the eye
OMIM:242600	SLC6A19	340024	HP:0003080	Hydroxyprolinuria
OMIM:242600	SLC6A19	340024	HP:0003137	Prolinuria
OMIM:242600	SLC6A19	340024	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC6A19	340024	HP:0001249	Intellectual disability
OMIM:242600	SLC6A19	340024	HP:0003108	Hyperglycinuria
OMIM:242600	SLC6A19	340024	HP:0000478	Abnormality of the eye
OMIM:613706	BRAF	673	HP:0000316	Hypertelorism
OMIM:613706	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:613706	BRAF	673	HP:0002033	Poor suck
OMIM:613706	BRAF	673	HP:0008872	Feeding difficulties in infancy
OMIM:613706	BRAF	673	HP:0100543	Cognitive impairment
OMIM:613706	BRAF	673	HP:0001249	Intellectual disability
OMIM:613706	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:613706	BRAF	673	HP:0001290	Generalized hypotonia
OMIM:613706	BRAF	673	HP:0002015	Dysphagia
OMIM:613706	BRAF	673	HP:0004322	Short stature
OMIM:613706	BRAF	673	HP:0000341	Narrow forehead
OMIM:613706	BRAF	673	HP:0000369	Low-set ears
OMIM:613706	BRAF	673	HP:0001252	Muscular hypotonia
OMIM:613706	BRAF	673	HP:0000268	Dolichocephaly
OMIM:613706	BRAF	673	HP:0000391	Thickened helices
OMIM:613706	BRAF	673	HP:0011220	Prominent forehead
ORPHA:93298	SLC26A2	1836	HP:0000470	Short neck
ORPHA:93298	SLC26A2	1836	HP:0000772	Abnormality of the ribs
ORPHA:93298	SLC26A2	1836	HP:0003196	Short nose
ORPHA:93298	SLC26A2	1836	HP:0005716	Lethal skeletal dysplasia
ORPHA:93298	SLC26A2	1836	HP:0002007	Frontal bossing
ORPHA:93298	SLC26A2	1836	HP:0003510	Severe short stature
ORPHA:93298	SLC26A2	1836	HP:0010306	Short thorax
ORPHA:93298	SLC26A2	1836	HP:0000347	Micrognathia
ORPHA:93298	SLC26A2	1836	HP:0000774	Narrow chest
ORPHA:93298	SLC26A2	1836	HP:0000463	Anteverted nares
ORPHA:93298	SLC26A2	1836	HP:0003498	Disproportionate short stature
ORPHA:93298	SLC26A2	1836	HP:0000256	Macrocephaly
ORPHA:93298	SLC26A2	1836	HP:0001537	Umbilical hernia
ORPHA:93298	SLC26A2	1836	HP:0002983	Micromelia
ORPHA:93298	SLC26A2	1836	HP:0000474	Thickened nuchal skin fold
ORPHA:93298	SLC26A2	1836	HP:0012368	Flat face
ORPHA:93298	SLC26A2	1836	HP:0100541	Femoral hernia
ORPHA:93298	SLC26A2	1836	HP:0000343	Long philtrum
ORPHA:93298	SLC26A2	1836	HP:0001773	Short foot
ORPHA:93298	SLC26A2	1836	HP:0001789	Hydrops fetalis
ORPHA:93298	SLC26A2	1836	HP:0001561	Polyhydramnios
ORPHA:93298	SLC26A2	1836	HP:0001762	Talipes equinovarus
ORPHA:93298	SLC26A2	1836	HP:0003336	Abnormal enchondral ossification
ORPHA:93298	SLC26A2	1836	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:131100	MEN1	4221	HP:0100570	Carcinoid tumor
OMIM:131100	MEN1	4221	HP:0012197	Insulinoma
OMIM:131100	MEN1	4221	HP:0002893	Pituitary adenoma
OMIM:131100	MEN1	4221	HP:0009720	Adenoma sebaceum
OMIM:131100	MEN1	4221	HP:0004398	Peptic ulcer
OMIM:131100	MEN1	4221	HP:0007449	Confetti-like hypopigmented macules
OMIM:131100	MEN1	4221	HP:0100633	Esophagitis
OMIM:131100	MEN1	4221	HP:0000845	Growth hormone excess
OMIM:131100	MEN1	4221	HP:0003072	Hypercalcemia
OMIM:131100	MEN1	4221	HP:0000957	Cafe-au-lait spot
OMIM:131100	MEN1	4221	HP:0002014	Diarrhea
OMIM:131100	MEN1	4221	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	MEN1	4221	HP:0000006	Autosomal dominant inheritance
OMIM:131100	MEN1	4221	HP:0030404	Glucagonoma
OMIM:131100	MEN1	4221	HP:0003118	Increased circulating cortisol level
OMIM:131100	MEN1	4221	HP:0008256	Adrenocortical adenoma
OMIM:131100	MEN1	4221	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	MEN1	4221	HP:0001031	Subcutaneous lipoma
OMIM:131100	MEN1	4221	HP:0001943	Hypoglycemia
OMIM:131100	MEN1	4221	HP:0002044	Zollinger-Ellison syndrome
OMIM:131100	MEN1	4221	HP:0002897	Parathyroid adenoma
OMIM:131100	MEN1	4221	HP:0040278	Prolactinoma
OMIM:252011	SDHA	6389	HP:0001324	Muscle weakness
OMIM:252011	SDHA	6389	HP:0001251	Ataxia
OMIM:252011	SDHA	6389	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHA	6389	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHA	6389	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHA	6389	HP:0008314	Decreased activity of mitochondrial complex II
OMIM:252011	SDHA	6389	HP:0001332	Dystonia
OMIM:252011	SDHA	6389	HP:0002151	Increased serum lactate
OMIM:252011	SDHA	6389	HP:0003546	Exercise intolerance
OMIM:252011	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHA	6389	HP:0006980	Progressive leukoencephalopathy
OMIM:252011	SDHA	6389	HP:0000639	Nystagmus
OMIM:252011	SDHA	6389	HP:0000648	Optic atrophy
OMIM:252011	SDHA	6389	HP:0030682	Left ventricular noncompaction
OMIM:252011	SDHA	6389	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHA	6389	HP:0004897	Stress/infection-induced lactic acidosis
OMIM:252011	SDHA	6389	HP:0001336	Myoclonus
OMIM:252011	SDHA	6389	HP:0001371	Flexion contracture
OMIM:252011	SDHA	6389	HP:0003487	Babinski sign
OMIM:252011	SDHA	6389	HP:0004322	Short stature
OMIM:252011	SDHA	6389	HP:0012240	Increased intramyocellular lipid droplets
OMIM:252011	SDHA	6389	HP:0000505	Visual impairment
OMIM:252011	SDHA	6389	HP:0003200	Ragged-red muscle fibers
OMIM:252011	SDHA	6389	HP:0000508	Ptosis
OMIM:252011	SDHA	6389	HP:0001250	Seizures
OMIM:252011	SDHA	6389	HP:0100543	Cognitive impairment
OMIM:252011	SDHA	6389	HP:0003593	Infantile onset
OMIM:252011	SDHA	6389	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHA	6389	HP:0001257	Spasticity
OMIM:252011	SDHA	6389	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHA	6389	HP:0003812	Phenotypic variability
OMIM:252011	SDHA	6389	HP:0001347	Hyperreflexia
OMIM:252011	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHA	6389	HP:0002376	Developmental regression
OMIM:252011	SDHD	6392	HP:0001324	Muscle weakness
OMIM:252011	SDHD	6392	HP:0001251	Ataxia
OMIM:252011	SDHD	6392	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHD	6392	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHD	6392	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHD	6392	HP:0008314	Decreased activity of mitochondrial complex II
OMIM:252011	SDHD	6392	HP:0001332	Dystonia
OMIM:252011	SDHD	6392	HP:0002151	Increased serum lactate
OMIM:252011	SDHD	6392	HP:0003546	Exercise intolerance
OMIM:252011	SDHD	6392	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHD	6392	HP:0006980	Progressive leukoencephalopathy
OMIM:252011	SDHD	6392	HP:0000639	Nystagmus
OMIM:252011	SDHD	6392	HP:0000648	Optic atrophy
OMIM:252011	SDHD	6392	HP:0030682	Left ventricular noncompaction
OMIM:252011	SDHD	6392	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHD	6392	HP:0004897	Stress/infection-induced lactic acidosis
OMIM:252011	SDHD	6392	HP:0001336	Myoclonus
OMIM:252011	SDHD	6392	HP:0001371	Flexion contracture
OMIM:252011	SDHD	6392	HP:0003487	Babinski sign
OMIM:252011	SDHD	6392	HP:0004322	Short stature
OMIM:252011	SDHD	6392	HP:0012240	Increased intramyocellular lipid droplets
OMIM:252011	SDHD	6392	HP:0000505	Visual impairment
OMIM:252011	SDHD	6392	HP:0003200	Ragged-red muscle fibers
OMIM:252011	SDHD	6392	HP:0000508	Ptosis
OMIM:252011	SDHD	6392	HP:0001250	Seizures
OMIM:252011	SDHD	6392	HP:0100543	Cognitive impairment
OMIM:252011	SDHD	6392	HP:0003593	Infantile onset
OMIM:252011	SDHD	6392	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHD	6392	HP:0001257	Spasticity
OMIM:252011	SDHD	6392	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHD	6392	HP:0003812	Phenotypic variability
OMIM:252011	SDHD	6392	HP:0001347	Hyperreflexia
OMIM:252011	SDHD	6392	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHD	6392	HP:0002376	Developmental regression
OMIM:252011	SDHAF1	644096	HP:0001324	Muscle weakness
OMIM:252011	SDHAF1	644096	HP:0001251	Ataxia
OMIM:252011	SDHAF1	644096	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHAF1	644096	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHAF1	644096	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHAF1	644096	HP:0008314	Decreased activity of mitochondrial complex II
OMIM:252011	SDHAF1	644096	HP:0001332	Dystonia
OMIM:252011	SDHAF1	644096	HP:0002151	Increased serum lactate
OMIM:252011	SDHAF1	644096	HP:0003546	Exercise intolerance
OMIM:252011	SDHAF1	644096	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHAF1	644096	HP:0006980	Progressive leukoencephalopathy
OMIM:252011	SDHAF1	644096	HP:0000639	Nystagmus
OMIM:252011	SDHAF1	644096	HP:0000648	Optic atrophy
OMIM:252011	SDHAF1	644096	HP:0030682	Left ventricular noncompaction
OMIM:252011	SDHAF1	644096	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHAF1	644096	HP:0004897	Stress/infection-induced lactic acidosis
OMIM:252011	SDHAF1	644096	HP:0001336	Myoclonus
OMIM:252011	SDHAF1	644096	HP:0001371	Flexion contracture
OMIM:252011	SDHAF1	644096	HP:0003487	Babinski sign
OMIM:252011	SDHAF1	644096	HP:0004322	Short stature
OMIM:252011	SDHAF1	644096	HP:0012240	Increased intramyocellular lipid droplets
OMIM:252011	SDHAF1	644096	HP:0000505	Visual impairment
OMIM:252011	SDHAF1	644096	HP:0003200	Ragged-red muscle fibers
OMIM:252011	SDHAF1	644096	HP:0000508	Ptosis
OMIM:252011	SDHAF1	644096	HP:0001250	Seizures
OMIM:252011	SDHAF1	644096	HP:0100543	Cognitive impairment
OMIM:252011	SDHAF1	644096	HP:0003593	Infantile onset
OMIM:252011	SDHAF1	644096	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHAF1	644096	HP:0001257	Spasticity
OMIM:252011	SDHAF1	644096	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHAF1	644096	HP:0003812	Phenotypic variability
OMIM:252011	SDHAF1	644096	HP:0001347	Hyperreflexia
OMIM:252011	SDHAF1	644096	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHAF1	644096	HP:0002376	Developmental regression
OMIM:217400	SLC4A11	83959	HP:0000407	Sensorineural hearing impairment
OMIM:217400	SLC4A11	83959	HP:0007759	Opacification of the corneal stroma
OMIM:217400	SLC4A11	83959	HP:0000007	Autosomal recessive inheritance
OMIM:217400	SLC4A11	83959	HP:0001131	Corneal dystrophy
ORPHA:39041	ADA	100	HP:0000958	Dry skin
ORPHA:39041	ADA	100	HP:0000969	Edema
ORPHA:39041	ADA	100	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	ADA	100	HP:0002240	Hepatomegaly
ORPHA:39041	ADA	100	HP:0001508	Failure to thrive
ORPHA:39041	ADA	100	HP:0001880	Eosinophilia
ORPHA:39041	ADA	100	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	ADA	100	HP:0001596	Alopecia
ORPHA:39041	ADA	100	HP:0002090	Pneumonia
ORPHA:39041	ADA	100	HP:0000989	Pruritus
ORPHA:39041	ADA	100	HP:0001744	Splenomegaly
ORPHA:39041	ADA	100	HP:0001072	Thickened skin
ORPHA:39041	ADA	100	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	ADA	100	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	ADA	100	HP:0001945	Fever
ORPHA:39041	ADA	100	HP:0002716	Lymphadenopathy
ORPHA:39041	ADA	100	HP:0001019	Erythroderma
ORPHA:39041	ADA	100	HP:0002028	Chronic diarrhea
ORPHA:39041	CHD7	55636	HP:0000958	Dry skin
ORPHA:39041	CHD7	55636	HP:0000969	Edema
ORPHA:39041	CHD7	55636	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	CHD7	55636	HP:0002240	Hepatomegaly
ORPHA:39041	CHD7	55636	HP:0001508	Failure to thrive
ORPHA:39041	CHD7	55636	HP:0001880	Eosinophilia
ORPHA:39041	CHD7	55636	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	CHD7	55636	HP:0001596	Alopecia
ORPHA:39041	CHD7	55636	HP:0002090	Pneumonia
ORPHA:39041	CHD7	55636	HP:0000989	Pruritus
ORPHA:39041	CHD7	55636	HP:0001744	Splenomegaly
ORPHA:39041	CHD7	55636	HP:0001072	Thickened skin
ORPHA:39041	CHD7	55636	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	CHD7	55636	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	CHD7	55636	HP:0001945	Fever
ORPHA:39041	CHD7	55636	HP:0002716	Lymphadenopathy
ORPHA:39041	CHD7	55636	HP:0001019	Erythroderma
ORPHA:39041	CHD7	55636	HP:0002028	Chronic diarrhea
ORPHA:39041	DCLRE1C	64421	HP:0000958	Dry skin
ORPHA:39041	DCLRE1C	64421	HP:0000969	Edema
ORPHA:39041	DCLRE1C	64421	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	DCLRE1C	64421	HP:0002240	Hepatomegaly
ORPHA:39041	DCLRE1C	64421	HP:0001508	Failure to thrive
ORPHA:39041	DCLRE1C	64421	HP:0001880	Eosinophilia
ORPHA:39041	DCLRE1C	64421	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	DCLRE1C	64421	HP:0001596	Alopecia
ORPHA:39041	DCLRE1C	64421	HP:0002090	Pneumonia
ORPHA:39041	DCLRE1C	64421	HP:0000989	Pruritus
ORPHA:39041	DCLRE1C	64421	HP:0001744	Splenomegaly
ORPHA:39041	DCLRE1C	64421	HP:0001072	Thickened skin
ORPHA:39041	DCLRE1C	64421	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	DCLRE1C	64421	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	DCLRE1C	64421	HP:0001945	Fever
ORPHA:39041	DCLRE1C	64421	HP:0002716	Lymphadenopathy
ORPHA:39041	DCLRE1C	64421	HP:0001019	Erythroderma
ORPHA:39041	DCLRE1C	64421	HP:0002028	Chronic diarrhea
ORPHA:39041	RMRP	6023	HP:0000958	Dry skin
ORPHA:39041	RMRP	6023	HP:0000969	Edema
ORPHA:39041	RMRP	6023	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	RMRP	6023	HP:0002240	Hepatomegaly
ORPHA:39041	RMRP	6023	HP:0001508	Failure to thrive
ORPHA:39041	RMRP	6023	HP:0001880	Eosinophilia
ORPHA:39041	RMRP	6023	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	RMRP	6023	HP:0001596	Alopecia
ORPHA:39041	RMRP	6023	HP:0002090	Pneumonia
ORPHA:39041	RMRP	6023	HP:0000989	Pruritus
ORPHA:39041	RMRP	6023	HP:0001744	Splenomegaly
ORPHA:39041	RMRP	6023	HP:0001072	Thickened skin
ORPHA:39041	RMRP	6023	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	RMRP	6023	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	RMRP	6023	HP:0001945	Fever
ORPHA:39041	RMRP	6023	HP:0002716	Lymphadenopathy
ORPHA:39041	RMRP	6023	HP:0001019	Erythroderma
ORPHA:39041	RMRP	6023	HP:0002028	Chronic diarrhea
ORPHA:39041	IL7R	3575	HP:0000958	Dry skin
ORPHA:39041	IL7R	3575	HP:0000969	Edema
ORPHA:39041	IL7R	3575	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	IL7R	3575	HP:0002240	Hepatomegaly
ORPHA:39041	IL7R	3575	HP:0001508	Failure to thrive
ORPHA:39041	IL7R	3575	HP:0001880	Eosinophilia
ORPHA:39041	IL7R	3575	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	IL7R	3575	HP:0001596	Alopecia
ORPHA:39041	IL7R	3575	HP:0002090	Pneumonia
ORPHA:39041	IL7R	3575	HP:0000989	Pruritus
ORPHA:39041	IL7R	3575	HP:0001744	Splenomegaly
ORPHA:39041	IL7R	3575	HP:0001072	Thickened skin
ORPHA:39041	IL7R	3575	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	IL7R	3575	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	IL7R	3575	HP:0001945	Fever
ORPHA:39041	IL7R	3575	HP:0002716	Lymphadenopathy
ORPHA:39041	IL7R	3575	HP:0001019	Erythroderma
ORPHA:39041	IL7R	3575	HP:0002028	Chronic diarrhea
ORPHA:39041	RAG1	5896	HP:0000958	Dry skin
ORPHA:39041	RAG1	5896	HP:0000969	Edema
ORPHA:39041	RAG1	5896	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	RAG1	5896	HP:0002240	Hepatomegaly
ORPHA:39041	RAG1	5896	HP:0001508	Failure to thrive
ORPHA:39041	RAG1	5896	HP:0001880	Eosinophilia
ORPHA:39041	RAG1	5896	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	RAG1	5896	HP:0001596	Alopecia
ORPHA:39041	RAG1	5896	HP:0002090	Pneumonia
ORPHA:39041	RAG1	5896	HP:0000989	Pruritus
ORPHA:39041	RAG1	5896	HP:0001744	Splenomegaly
ORPHA:39041	RAG1	5896	HP:0001072	Thickened skin
ORPHA:39041	RAG1	5896	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	RAG1	5896	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	RAG1	5896	HP:0001945	Fever
ORPHA:39041	RAG1	5896	HP:0002716	Lymphadenopathy
ORPHA:39041	RAG1	5896	HP:0001019	Erythroderma
ORPHA:39041	RAG1	5896	HP:0002028	Chronic diarrhea
ORPHA:39041	RAG2	5897	HP:0000958	Dry skin
ORPHA:39041	RAG2	5897	HP:0000969	Edema
ORPHA:39041	RAG2	5897	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	RAG2	5897	HP:0002240	Hepatomegaly
ORPHA:39041	RAG2	5897	HP:0001508	Failure to thrive
ORPHA:39041	RAG2	5897	HP:0001880	Eosinophilia
ORPHA:39041	RAG2	5897	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	RAG2	5897	HP:0001596	Alopecia
ORPHA:39041	RAG2	5897	HP:0002090	Pneumonia
ORPHA:39041	RAG2	5897	HP:0000989	Pruritus
ORPHA:39041	RAG2	5897	HP:0001744	Splenomegaly
ORPHA:39041	RAG2	5897	HP:0001072	Thickened skin
ORPHA:39041	RAG2	5897	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	RAG2	5897	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	RAG2	5897	HP:0001945	Fever
ORPHA:39041	RAG2	5897	HP:0002716	Lymphadenopathy
ORPHA:39041	RAG2	5897	HP:0001019	Erythroderma
ORPHA:39041	RAG2	5897	HP:0002028	Chronic diarrhea
ORPHA:39041	IL2RG	3561	HP:0000958	Dry skin
ORPHA:39041	IL2RG	3561	HP:0000969	Edema
ORPHA:39041	IL2RG	3561	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	IL2RG	3561	HP:0002240	Hepatomegaly
ORPHA:39041	IL2RG	3561	HP:0001508	Failure to thrive
ORPHA:39041	IL2RG	3561	HP:0001880	Eosinophilia
ORPHA:39041	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	IL2RG	3561	HP:0001596	Alopecia
ORPHA:39041	IL2RG	3561	HP:0002090	Pneumonia
ORPHA:39041	IL2RG	3561	HP:0000989	Pruritus
ORPHA:39041	IL2RG	3561	HP:0001744	Splenomegaly
ORPHA:39041	IL2RG	3561	HP:0001072	Thickened skin
ORPHA:39041	IL2RG	3561	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	IL2RG	3561	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	IL2RG	3561	HP:0001945	Fever
ORPHA:39041	IL2RG	3561	HP:0002716	Lymphadenopathy
ORPHA:39041	IL2RG	3561	HP:0001019	Erythroderma
ORPHA:39041	IL2RG	3561	HP:0002028	Chronic diarrhea
ORPHA:39041	LIG4	3981	HP:0000958	Dry skin
ORPHA:39041	LIG4	3981	HP:0000969	Edema
ORPHA:39041	LIG4	3981	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	LIG4	3981	HP:0002240	Hepatomegaly
ORPHA:39041	LIG4	3981	HP:0001508	Failure to thrive
ORPHA:39041	LIG4	3981	HP:0001880	Eosinophilia
ORPHA:39041	LIG4	3981	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	LIG4	3981	HP:0001596	Alopecia
ORPHA:39041	LIG4	3981	HP:0002090	Pneumonia
ORPHA:39041	LIG4	3981	HP:0000989	Pruritus
ORPHA:39041	LIG4	3981	HP:0001744	Splenomegaly
ORPHA:39041	LIG4	3981	HP:0001072	Thickened skin
ORPHA:39041	LIG4	3981	HP:0004332	Abnormality of lymphocytes
ORPHA:39041	LIG4	3981	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	LIG4	3981	HP:0001945	Fever
ORPHA:39041	LIG4	3981	HP:0002716	Lymphadenopathy
ORPHA:39041	LIG4	3981	HP:0001019	Erythroderma
ORPHA:39041	LIG4	3981	HP:0002028	Chronic diarrhea
ORPHA:93404	GJA1	2697	HP:0100490	Camptodactyly of finger
ORPHA:93404	GJA1	2697	HP:0006101	Finger syndactyly
OMIM:617013	SLC39A14	23516	HP:0001337	Tremor
OMIM:617013	SLC39A14	23516	HP:0002376	Developmental regression
OMIM:617013	SLC39A14	23516	HP:0002067	Bradykinesia
OMIM:617013	SLC39A14	23516	HP:0003487	Babinski sign
OMIM:617013	SLC39A14	23516	HP:0012048	Oromandibular dystonia
OMIM:617013	SLC39A14	23516	HP:0001288	Gait disturbance
OMIM:617013	SLC39A14	23516	HP:0001249	Intellectual disability
OMIM:617013	SLC39A14	23516	HP:0002650	Scoliosis
OMIM:617013	SLC39A14	23516	HP:0008936	Muscular hypotonia of the trunk
OMIM:617013	SLC39A14	23516	HP:0001371	Flexion contracture
OMIM:617013	SLC39A14	23516	HP:0003676	Progressive
OMIM:617013	SLC39A14	23516	HP:0011448	Ankle clonus
OMIM:617013	SLC39A14	23516	HP:0001257	Spasticity
OMIM:617013	SLC39A14	23516	HP:0000007	Autosomal recessive inheritance
OMIM:617013	SLC39A14	23516	HP:0001300	Parkinsonism
OMIM:614089	MYH6	4624	HP:0001684	Secundum atrial septal defect
OMIM:614089	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:616539	TRMT5	57570	HP:0003546	Exercise intolerance
OMIM:616539	TRMT5	57570	HP:0001394	Cirrhosis
OMIM:616539	TRMT5	57570	HP:0000325	Triangular face
OMIM:616539	TRMT5	57570	HP:0000592	Blue sclerae
OMIM:616539	TRMT5	57570	HP:0002465	Poor speech
OMIM:616539	TRMT5	57570	HP:0001263	Global developmental delay
OMIM:616539	TRMT5	57570	HP:0002024	Malabsorption
OMIM:616539	TRMT5	57570	HP:0002151	Increased serum lactate
OMIM:616539	TRMT5	57570	HP:0001347	Hyperreflexia
OMIM:616539	TRMT5	57570	HP:0002875	Exertional dyspnea
OMIM:616539	TRMT5	57570	HP:0001252	Muscular hypotonia
OMIM:616539	TRMT5	57570	HP:0003487	Babinski sign
OMIM:616539	TRMT5	57570	HP:0011922	Abnormal activity of mitochondrial respiratory chain
OMIM:616539	TRMT5	57570	HP:0001508	Failure to thrive
OMIM:616539	TRMT5	57570	HP:0000007	Autosomal recessive inheritance
OMIM:616539	TRMT5	57570	HP:0001257	Spasticity
OMIM:616539	TRMT5	57570	HP:0003812	Phenotypic variability
OMIM:616539	TRMT5	57570	HP:0000160	Narrow mouth
OMIM:616539	TRMT5	57570	HP:0001265	Hyporeflexia
OMIM:616539	TRMT5	57570	HP:0012448	Delayed myelination
OMIM:616539	TRMT5	57570	HP:0001290	Generalized hypotonia
OMIM:616539	TRMT5	57570	HP:0012444	Brain atrophy
OMIM:605583	SLC17A8	246213	HP:0003828	Variable expressivity
OMIM:605583	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:605583	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:614429	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614429	GATA4	2626	HP:0001629	Ventricular septal defect
OMIM:257300	BUB1B	701	HP:0000252	Microcephaly
OMIM:257300	BUB1B	701	HP:0000347	Micrognathia
OMIM:257300	BUB1B	701	HP:0000207	Triangular mouth
OMIM:257300	BUB1B	701	HP:0000062	Ambiguous genitalia
OMIM:257300	BUB1B	701	HP:0001274	Agenesis of corpus callosum
OMIM:257300	BUB1B	701	HP:0001290	Generalized hypotonia
OMIM:257300	BUB1B	701	HP:0200024	Premature chromatid separation
OMIM:257300	BUB1B	701	HP:0000272	Malar flattening
OMIM:257300	BUB1B	701	HP:0011800	Midface retrusion
OMIM:257300	BUB1B	701	HP:0002859	Rhabdomyosarcoma
OMIM:257300	BUB1B	701	HP:0001562	Oligohydramnios
OMIM:257300	BUB1B	701	HP:0000286	Epicanthus
OMIM:257300	BUB1B	701	HP:0000470	Short neck
OMIM:257300	BUB1B	701	HP:0008872	Feeding difficulties in infancy
OMIM:257300	BUB1B	701	HP:0000358	Posteriorly rotated ears
OMIM:257300	BUB1B	701	HP:0000348	High forehead
OMIM:257300	BUB1B	701	HP:0000175	Cleft palate
OMIM:257300	BUB1B	701	HP:0000007	Autosomal recessive inheritance
OMIM:257300	BUB1B	701	HP:0000316	Hypertelorism
OMIM:257300	BUB1B	701	HP:0006849	Hypodysplasia of the corpus callosum
OMIM:257300	BUB1B	701	HP:0000028	Cryptorchidism
OMIM:257300	BUB1B	701	HP:0006872	Cerebral hypoplasia
OMIM:257300	BUB1B	701	HP:0000248	Brachycephaly
OMIM:257300	BUB1B	701	HP:0003812	Phenotypic variability
OMIM:257300	BUB1B	701	HP:0000445	Wide nose
OMIM:257300	BUB1B	701	HP:0002119	Ventriculomegaly
OMIM:257300	BUB1B	701	HP:0000879	Short sternum
OMIM:257300	BUB1B	701	HP:0011344	Severe global developmental delay
OMIM:257300	BUB1B	701	HP:0002069	Generalized tonic-clonic seizures
OMIM:257300	BUB1B	701	HP:0002667	Nephroblastoma
OMIM:257300	BUB1B	701	HP:0004322	Short stature
OMIM:257300	BUB1B	701	HP:0001518	Small for gestational age
OMIM:257300	BUB1B	701	HP:0001511	Intrauterine growth retardation
OMIM:257300	BUB1B	701	HP:0000047	Hypospadias
OMIM:257300	BUB1B	701	HP:0000369	Low-set ears
OMIM:257300	BUB1B	701	HP:0001909	Leukemia
OMIM:257300	BUB1B	701	HP:0005280	Depressed nasal bridge
OMIM:257300	BUB1B	701	HP:0000054	Micropenis
OMIM:257300	BUB1B	701	HP:0002123	Generalized myoclonic seizures
OMIM:257300	BUB1B	701	HP:0000582	Upslanted palpebral fissure
OMIM:257300	BUB1B	701	HP:0000107	Renal cyst
OMIM:257300	BUB1B	701	HP:0000639	Nystagmus
OMIM:257300	BUB1B	701	HP:0000048	Bifid scrotum
OMIM:257300	BUB1B	701	HP:0001305	Dandy-Walker malformation
OMIM:257300	BUB1B	701	HP:0005387	Combined immunodeficiency
OMIM:257300	BUB1B	701	HP:0000343	Long philtrum
OMIM:257300	BUB1B	701	HP:0000518	Cataract
OMIM:257300	BUB1B	701	HP:0008897	Postnatal growth retardation
OMIM:257300	BUB1B	701	HP:0000238	Hydrocephalus
OMIM:257300	BUB1B	701	HP:0001321	Cerebellar hypoplasia
OMIM:257300	BUB1B	701	HP:0000463	Anteverted nares
OMIM:257300	BUB1B	701	HP:0002187	Intellectual disability, profound
OMIM:257300	BUB1B	701	HP:0003196	Short nose
OMIM:616025	PIGW	284098	HP:0000431	Wide nasal bridge
OMIM:616025	PIGW	284098	HP:0000007	Autosomal recessive inheritance
OMIM:616025	PIGW	284098	HP:0001263	Global developmental delay
OMIM:616025	PIGW	284098	HP:0002521	Hypsarrhythmia
OMIM:616025	PIGW	284098	HP:0010804	Tented upper lip vermilion
OMIM:616025	PIGW	284098	HP:0001249	Intellectual disability
OMIM:616025	PIGW	284098	HP:0003155	Elevated alkaline phosphatase
OMIM:201810	HSD3B2	3284	HP:0000047	Hypospadias
OMIM:201810	HSD3B2	3284	HP:0000048	Bifid scrotum
OMIM:201810	HSD3B2	3284	HP:0008221	Adrenal hyperplasia
OMIM:201810	HSD3B2	3284	HP:0008707	Absent scrotum
OMIM:201810	HSD3B2	3284	HP:0000054	Micropenis
OMIM:201810	HSD3B2	3284	HP:0000062	Ambiguous genitalia
OMIM:201810	HSD3B2	3284	HP:0012411	Premature pubarche
OMIM:201810	HSD3B2	3284	HP:0000037	Male pseudohermaphroditism
OMIM:201810	HSD3B2	3284	HP:0000007	Autosomal recessive inheritance
OMIM:188400	TBX1	6899	HP:0000370	Abnormality of the middle ear
OMIM:188400	TBX1	6899	HP:0000821	Hypothyroidism
OMIM:188400	TBX1	6899	HP:0002650	Scoliosis
OMIM:188400	TBX1	6899	HP:0000347	Micrognathia
OMIM:188400	TBX1	6899	HP:0025312	Esophoria
OMIM:188400	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:188400	TBX1	6899	HP:0000322	Short philtrum
OMIM:188400	TBX1	6899	HP:0008211	Parathyroid agenesis
OMIM:188400	TBX1	6899	HP:0004322	Short stature
OMIM:188400	TBX1	6899	HP:0001281	Tetany
OMIM:188400	TBX1	6899	HP:0000647	Sclerocornea
OMIM:188400	TBX1	6899	HP:0000126	Hydronephrosis
OMIM:188400	TBX1	6899	HP:0005435	Impaired T cell function
OMIM:188400	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:188400	TBX1	6899	HP:0000193	Bifid uvula
OMIM:188400	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:188400	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:188400	TBX1	6899	HP:0000646	Amblyopia
OMIM:188400	TBX1	6899	HP:0001263	Global developmental delay
OMIM:188400	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:188400	TBX1	6899	HP:0000750	Delayed speech and language development
OMIM:188400	TBX1	6899	HP:0001051	Seborrheic dermatitis
OMIM:188400	TBX1	6899	HP:0000316	Hypertelorism
OMIM:188400	TBX1	6899	HP:0001328	Specific learning disability
OMIM:188400	TBX1	6899	HP:0001643	Patent ductus arteriosus
OMIM:188400	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:188400	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:188400	TBX1	6899	HP:0001081	Cholelithiasis
OMIM:188400	TBX1	6899	HP:0002705	High, narrow palate
OMIM:188400	TBX1	6899	HP:0000175	Cleft palate
OMIM:188400	TBX1	6899	HP:0001513	Obesity
OMIM:188400	TBX1	6899	HP:0001250	Seizures
OMIM:188400	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:188400	TBX1	6899	HP:0012745	Short palpebral fissure
OMIM:188400	TBX1	6899	HP:0000860	Parathyroid hypoplasia
OMIM:188400	TBX1	6899	HP:0002719	Recurrent infections
OMIM:188400	TBX1	6899	HP:0001611	Nasal speech
OMIM:188400	TBX1	6899	HP:0100541	Femoral hernia
OMIM:188400	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:188400	TBX1	6899	HP:0000122	Unilateral renal agenesis
OMIM:188400	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	TBX1	6899	HP:0007302	Bipolar affective disorder
OMIM:188400	TBX1	6899	HP:0011611	Interrupted aortic arch
OMIM:188400	TBX1	6899	HP:0000565	Esotropia
OMIM:188400	TBX1	6899	HP:0000369	Low-set ears
OMIM:188400	TBX1	6899	HP:0000777	Abnormality of the thymus
OMIM:188400	TBX1	6899	HP:0000577	Exotropia
OMIM:188400	TBX1	6899	HP:0000110	Renal dysplasia
OMIM:612336	PROS1	5627	HP:0002638	Superficial thrombophlebitis
OMIM:612336	PROS1	5627	HP:0004855	Reduced protein S activity
OMIM:612336	PROS1	5627	HP:0000006	Autosomal dominant inheritance
OMIM:612336	PROS1	5627	HP:0004420	Arterial thrombosis
OMIM:612336	PROS1	5627	HP:0100724	Hypercoagulability
OMIM:612336	PROS1	5627	HP:0001038	Warfarin-induced skin necrosis
OMIM:612336	PROS1	5627	HP:0005305	Cerebral venous thrombosis
OMIM:612336	PROS1	5627	HP:0000979	Purpura
OMIM:612336	PROS1	5627	HP:0002204	Pulmonary embolism
ORPHA:2584	CTLA4	1493	HP:0000989	Pruritus
ORPHA:2584	CTLA4	1493	HP:0200035	Skin plaque
ORPHA:2584	CTLA4	1493	HP:0000964	Eczema
ORPHA:2584	CTLA4	1493	HP:0001053	Hypopigmented skin patches
ORPHA:2584	CTLA4	1493	HP:0007400	Irregular hyperpigmentation
ORPHA:2584	CTLA4	1493	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:2584	CTLA4	1493	HP:0000958	Dry skin
ORPHA:2584	CTLA4	1493	HP:0010783	Erythema
ORPHA:2584	CTLA4	1493	HP:0004332	Abnormality of lymphocytes
ORPHA:2584	CTLA4	1493	HP:0002716	Lymphadenopathy
ORPHA:2584	CTLA4	1493	HP:0008069	Neoplasm of the skin
ORPHA:2584	CTLA4	1493	HP:0000988	Skin rash
ORPHA:2584	CTLA4	1493	HP:0001596	Alopecia
ORPHA:2584	CTLA4	1493	HP:0001029	Poikiloderma
ORPHA:2584	CD28	940	HP:0000989	Pruritus
ORPHA:2584	CD28	940	HP:0200035	Skin plaque
ORPHA:2584	CD28	940	HP:0000964	Eczema
ORPHA:2584	CD28	940	HP:0001053	Hypopigmented skin patches
ORPHA:2584	CD28	940	HP:0007400	Irregular hyperpigmentation
ORPHA:2584	CD28	940	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:2584	CD28	940	HP:0000958	Dry skin
ORPHA:2584	CD28	940	HP:0010783	Erythema
ORPHA:2584	CD28	940	HP:0004332	Abnormality of lymphocytes
ORPHA:2584	CD28	940	HP:0002716	Lymphadenopathy
ORPHA:2584	CD28	940	HP:0008069	Neoplasm of the skin
ORPHA:2584	CD28	940	HP:0000988	Skin rash
ORPHA:2584	CD28	940	HP:0001596	Alopecia
ORPHA:2584	CD28	940	HP:0001029	Poikiloderma
ORPHA:2584	TNFRSF1B	7133	HP:0000989	Pruritus
ORPHA:2584	TNFRSF1B	7133	HP:0200035	Skin plaque
ORPHA:2584	TNFRSF1B	7133	HP:0000964	Eczema
ORPHA:2584	TNFRSF1B	7133	HP:0001053	Hypopigmented skin patches
ORPHA:2584	TNFRSF1B	7133	HP:0007400	Irregular hyperpigmentation
ORPHA:2584	TNFRSF1B	7133	HP:0012192	Cutaneous T-cell lymphoma
ORPHA:2584	TNFRSF1B	7133	HP:0000958	Dry skin
ORPHA:2584	TNFRSF1B	7133	HP:0010783	Erythema
ORPHA:2584	TNFRSF1B	7133	HP:0004332	Abnormality of lymphocytes
ORPHA:2584	TNFRSF1B	7133	HP:0002716	Lymphadenopathy
ORPHA:2584	TNFRSF1B	7133	HP:0008069	Neoplasm of the skin
ORPHA:2584	TNFRSF1B	7133	HP:0000988	Skin rash
ORPHA:2584	TNFRSF1B	7133	HP:0001596	Alopecia
ORPHA:2584	TNFRSF1B	7133	HP:0001029	Poikiloderma
OMIM:280000	PIGL	9487	HP:0000405	Conductive hearing impairment
OMIM:280000	PIGL	9487	HP:0001629	Ventricular septal defect
OMIM:280000	PIGL	9487	HP:0000081	Duplicated collecting system
OMIM:280000	PIGL	9487	HP:0008760	Violent behavior
OMIM:280000	PIGL	9487	HP:0000286	Epicanthus
OMIM:280000	PIGL	9487	HP:0001249	Intellectual disability
OMIM:280000	PIGL	9487	HP:0000465	Webbed neck
OMIM:280000	PIGL	9487	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:280000	PIGL	9487	HP:0000126	Hydronephrosis
OMIM:280000	PIGL	9487	HP:0000316	Hypertelorism
OMIM:280000	PIGL	9487	HP:0001176	Large hands
OMIM:280000	PIGL	9487	HP:0001290	Generalized hypotonia
OMIM:280000	PIGL	9487	HP:0000175	Cleft palate
OMIM:280000	PIGL	9487	HP:0001250	Seizures
OMIM:280000	PIGL	9487	HP:0005280	Depressed nasal bridge
OMIM:280000	PIGL	9487	HP:0000154	Wide mouth
OMIM:280000	PIGL	9487	HP:0000480	Retinal coloboma
OMIM:280000	PIGL	9487	HP:0001669	Transposition of the great arteries
OMIM:280000	PIGL	9487	HP:0001833	Long foot
OMIM:280000	PIGL	9487	HP:0008070	Sparse hair
OMIM:280000	PIGL	9487	HP:0002059	Cerebral atrophy
OMIM:280000	PIGL	9487	HP:0002136	Broad-based gait
OMIM:280000	PIGL	9487	HP:0002213	Fine hair
OMIM:280000	PIGL	9487	HP:0009473	Joint contracture of the hand
OMIM:280000	PIGL	9487	HP:0006721	Acute lymphoblastic leukemia
OMIM:280000	PIGL	9487	HP:0002562	Low-set nipples
OMIM:280000	PIGL	9487	HP:0002007	Frontal bossing
OMIM:280000	PIGL	9487	HP:0000972	Palmoplantar hyperkeratosis
OMIM:280000	PIGL	9487	HP:0001636	Tetralogy of Fallot
OMIM:280000	PIGL	9487	HP:0000007	Autosomal recessive inheritance
OMIM:280000	PIGL	9487	HP:0011220	Prominent forehead
OMIM:280000	PIGL	9487	HP:0000179	Thick lower lip vermilion
OMIM:280000	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:280000	PIGL	9487	HP:0000687	Widely spaced teeth
OMIM:280000	PIGL	9487	HP:0004209	Clinodactyly of the 5th finger
OMIM:280000	PIGL	9487	HP:0001520	Large for gestational age
OMIM:280000	PIGL	9487	HP:0000248	Brachycephaly
OMIM:280000	PIGL	9487	HP:0000396	Overfolded helix
OMIM:280000	PIGL	9487	HP:0002557	Hypoplastic nipples
OMIM:280000	PIGL	9487	HP:0000074	Ureteropelvic junction obstruction
OMIM:280000	PIGL	9487	HP:0000322	Short philtrum
ORPHA:2635	TRPV4	59341	HP:0003510	Severe short stature
ORPHA:2635	TRPV4	59341	HP:0005108	Abnormality of the intervertebral disk
ORPHA:2635	TRPV4	59341	HP:0100670	Rough bone trabeculation
ORPHA:2635	TRPV4	59341	HP:0002652	Skeletal dysplasia
ORPHA:2635	TRPV4	59341	HP:0000774	Narrow chest
ORPHA:2635	TRPV4	59341	HP:0000944	Abnormality of the metaphysis
ORPHA:2635	TRPV4	59341	HP:0002983	Micromelia
ORPHA:2635	TRPV4	59341	HP:0000772	Abnormality of the ribs
ORPHA:2635	TRPV4	59341	HP:0100818	Long thorax
ORPHA:2635	TRPV4	59341	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2635	TRPV4	59341	HP:0005280	Depressed nasal bridge
ORPHA:2635	TRPV4	59341	HP:0003336	Abnormal enchondral ossification
ORPHA:2635	TRPV4	59341	HP:0003103	Abnormal cortical bone morphology
ORPHA:2635	TRPV4	59341	HP:0001387	Joint stiffness
ORPHA:2635	TRPV4	59341	HP:0002808	Kyphosis
ORPHA:2635	TRPV4	59341	HP:0000348	High forehead
ORPHA:2635	TRPV4	59341	HP:0002650	Scoliosis
ORPHA:2635	TRPV4	59341	HP:0002826	Halberd-shaped pelvis
ORPHA:2635	TRPV4	59341	HP:0008434	Hypoplastic cervical vertebrae
OMIM:612847	PAPSS2	9060	HP:0002751	Kyphoscoliosis
OMIM:612847	PAPSS2	9060	HP:0000869	Secondary amenorrhea
OMIM:612847	PAPSS2	9060	HP:0003301	Irregular vertebral endplates
OMIM:612847	PAPSS2	9060	HP:0001007	Hirsutism
OMIM:612847	PAPSS2	9060	HP:0001156	Brachydactyly
OMIM:612847	PAPSS2	9060	HP:0012411	Premature pubarche
OMIM:612847	PAPSS2	9060	HP:0001061	Acne
OMIM:612847	PAPSS2	9060	HP:0000007	Autosomal recessive inheritance
OMIM:612847	PAPSS2	9060	HP:0002979	Bowing of the legs
OMIM:612847	PAPSS2	9060	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:612847	PAPSS2	9060	HP:0009816	Lower limb undergrowth
OMIM:612847	PAPSS2	9060	HP:0000926	Platyspondyly
OMIM:612847	PAPSS2	9060	HP:0004322	Short stature
OMIM:612847	PAPSS2	9060	HP:0004626	Lumbar scoliosis
ORPHA:366	AGL	178	HP:0002721	Immunodeficiency
ORPHA:366	AGL	178	HP:0004322	Short stature
ORPHA:366	AGL	178	HP:0000293	Full cheeks
ORPHA:366	AGL	178	HP:0002155	Hypertriglyceridemia
ORPHA:366	AGL	178	HP:0001943	Hypoglycemia
ORPHA:366	AGL	178	HP:0003198	Myopathy
ORPHA:366	AGL	178	HP:0001256	Intellectual disability, mild
ORPHA:243343	DMGDH	29958	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:243343	DMGDH	29958	HP:0003750	Increased muscle fatiguability
ORPHA:243343	DMGDH	29958	HP:0012379	Abnormal enzyme/coenzyme activity
ORPHA:93405	SHH	6469	HP:0010708	1-5 finger syndactyly
ORPHA:93405	SHH	6469	HP:0001829	Foot polydactyly
ORPHA:93405	SHH	6469	HP:0001161	Hand polydactyly
ORPHA:93405	SHH	6469	HP:0001501	6 metacarpals
ORPHA:93405	SHH	6469	HP:0001770	Toe syndactyly
ORPHA:93405	SHH	6469	HP:0005736	Short tibia
ORPHA:93405	SHH	6469	HP:0100490	Camptodactyly of finger
ORPHA:93405	LMBR1	64327	HP:0010708	1-5 finger syndactyly
ORPHA:93405	LMBR1	64327	HP:0001829	Foot polydactyly
ORPHA:93405	LMBR1	64327	HP:0001161	Hand polydactyly
ORPHA:93405	LMBR1	64327	HP:0001501	6 metacarpals
ORPHA:93405	LMBR1	64327	HP:0001770	Toe syndactyly
ORPHA:93405	LMBR1	64327	HP:0005736	Short tibia
ORPHA:93405	LMBR1	64327	HP:0100490	Camptodactyly of finger
OMIM:143860	CA12	771	HP:0002902	Hyponatremia
OMIM:143860	CA12	771	HP:0001944	Dehydration
OMIM:143860	CA12	771	HP:0002153	Hyperkalemia
OMIM:143860	CA12	771	HP:0000006	Autosomal dominant inheritance
OMIM:143860	CA12	771	HP:0011968	Feeding difficulties
OMIM:143860	CA12	771	HP:0000007	Autosomal recessive inheritance
OMIM:143860	CA12	771	HP:0003593	Infantile onset
OMIM:143860	CA12	771	HP:0001508	Failure to thrive
OMIM:606612	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	FKRP	79147	HP:0003307	Hyperlordosis
OMIM:606612	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:606612	FKRP	79147	HP:0000158	Macroglossia
OMIM:606612	FKRP	79147	HP:0001249	Intellectual disability
OMIM:606612	FKRP	79147	HP:0002948	Vertebral fusion
OMIM:606612	FKRP	79147	HP:0040083	Toe walking
OMIM:606612	FKRP	79147	HP:0000252	Microcephaly
OMIM:606612	FKRP	79147	HP:0002808	Kyphosis
OMIM:606612	FKRP	79147	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	FKRP	79147	HP:0002194	Delayed gross motor development
OMIM:606612	FKRP	79147	HP:0001319	Neonatal hypotonia
OMIM:606612	FKRP	79147	HP:0007126	Proximal amyotrophy
OMIM:606612	FKRP	79147	HP:0003733	Thigh hypertrophy
OMIM:606612	FKRP	79147	HP:0002359	Frequent falls
OMIM:606612	FKRP	79147	HP:0003326	Myalgia
OMIM:606612	FKRP	79147	HP:0003828	Variable expressivity
OMIM:606612	FKRP	79147	HP:0010628	Facial palsy
OMIM:606612	FKRP	79147	HP:0002650	Scoliosis
OMIM:606612	FKRP	79147	HP:0002355	Difficulty walking
OMIM:606612	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:606612	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:606612	FKRP	79147	HP:0008872	Feeding difficulties in infancy
OMIM:606612	FKRP	79147	HP:0003394	Muscle cramps
OMIM:606612	FKRP	79147	HP:0003577	Congenital onset
OMIM:606612	FKRP	79147	HP:0003551	Difficulty climbing stairs
OMIM:606612	FKRP	79147	HP:0001771	Achilles tendon contracture
OMIM:606612	FKRP	79147	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:606612	FKRP	79147	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	FKRP	79147	HP:0001272	Cerebellar atrophy
OMIM:606612	FKRP	79147	HP:0008981	Calf muscle hypertrophy
OMIM:606612	FKRP	79147	HP:0002111	Restrictive deficit on pulmonary function testing
OMIM:606612	FKRP	79147	HP:0003324	Generalized muscle weakness
OMIM:606612	FKRP	79147	HP:0003458	EMG: myopathic abnormalities
ORPHA:2807	TP53	7157	HP:0000238	Hydrocephalus
ORPHA:2807	TP53	7157	HP:0200022	Choroid plexus papilloma
OMIM:251230	DONSON	29980	HP:0001511	Intrauterine growth retardation
OMIM:251230	DONSON	29980	HP:0002983	Micromelia
OMIM:251230	DONSON	29980	HP:0000007	Autosomal recessive inheritance
OMIM:251230	DONSON	29980	HP:0000252	Microcephaly
OMIM:251230	DONSON	29980	HP:0001155	Abnormality of the hand
OMIM:251230	DONSON	29980	HP:0009821	Forearm undergrowth
OMIM:614254	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614254	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:300855	NAA10	8260	HP:0000023	Inguinal hernia
OMIM:300855	NAA10	8260	HP:0002000	Short columella
OMIM:300855	NAA10	8260	HP:0005280	Depressed nasal bridge
OMIM:300855	NAA10	8260	HP:0000164	Abnormality of the dentition
OMIM:300855	NAA10	8260	HP:0000527	Long eyelashes
OMIM:300855	NAA10	8260	HP:0001631	Atrial septal defect
OMIM:300855	NAA10	8260	HP:0000520	Proptosis
OMIM:300855	NAA10	8260	HP:0000252	Microcephaly
OMIM:300855	NAA10	8260	HP:0004322	Short stature
OMIM:300855	NAA10	8260	HP:0010803	Everted upper lip vermilion
OMIM:300855	NAA10	8260	HP:0002719	Recurrent infections
OMIM:300855	NAA10	8260	HP:0008897	Postnatal growth retardation
OMIM:300855	NAA10	8260	HP:0002002	Deep philtrum
OMIM:300855	NAA10	8260	HP:0000431	Wide nasal bridge
OMIM:300855	NAA10	8260	HP:0000733	Stereotypy
OMIM:300855	NAA10	8260	HP:0001276	Hypertonia
OMIM:300855	NAA10	8260	HP:0005288	Abnormality of the nares
OMIM:300855	NAA10	8260	HP:0000215	Thick upper lip vermilion
OMIM:300855	NAA10	8260	HP:0000028	Cryptorchidism
OMIM:300855	NAA10	8260	HP:0001263	Global developmental delay
OMIM:300855	NAA10	8260	HP:0004755	Supraventricular tachycardia
OMIM:300855	NAA10	8260	HP:0004756	Ventricular tachycardia
OMIM:300855	NAA10	8260	HP:0000219	Thin upper lip vermilion
OMIM:300855	NAA10	8260	HP:0000430	Underdeveloped nasal alae
OMIM:300855	NAA10	8260	HP:0001664	Torsade de pointes
OMIM:300855	NAA10	8260	HP:0000286	Epicanthus
OMIM:300855	NAA10	8260	HP:0006682	Ventricular extrasystoles
OMIM:300855	NAA10	8260	HP:0010055	Broad hallux
OMIM:300855	NAA10	8260	HP:0003717	Minimal subcutaneous fat
OMIM:300855	NAA10	8260	HP:0001582	Redundant skin
OMIM:300855	NAA10	8260	HP:0001629	Ventricular septal defect
OMIM:300855	NAA10	8260	HP:0009762	Facial wrinkling
OMIM:300855	NAA10	8260	HP:0001423	X-linked dominant inheritance
OMIM:300855	NAA10	8260	HP:0000218	High palate
OMIM:300855	NAA10	8260	HP:0000369	Low-set ears
OMIM:300855	NAA10	8260	HP:0002059	Cerebral atrophy
OMIM:300855	NAA10	8260	HP:0011220	Prominent forehead
OMIM:300855	NAA10	8260	HP:0000270	Delayed cranial suture closure
OMIM:300855	NAA10	8260	HP:0000308	Microretrognathia
OMIM:300855	NAA10	8260	HP:0004415	Pulmonary artery stenosis
OMIM:300855	NAA10	8260	HP:0000400	Macrotia
OMIM:300855	NAA10	8260	HP:0000535	Sparse and thin eyebrow
OMIM:300855	NAA10	8260	HP:0000494	Downslanted palpebral fissures
OMIM:300855	NAA10	8260	HP:0003577	Congenital onset
OMIM:300855	NAA10	8260	HP:0003828	Variable expressivity
OMIM:300855	NAA10	8260	HP:0001419	X-linked recessive inheritance
OMIM:300855	NAA10	8260	HP:0000280	Coarse facial features
ORPHA:14	MTTP	4547	HP:0007703	Abnormality of retinal pigmentation
ORPHA:14	MTTP	4547	HP:0001315	Reduced tendon reflexes
ORPHA:14	MTTP	4547	HP:0100022	Abnormality of movement
ORPHA:14	MTTP	4547	HP:0001252	Muscular hypotonia
ORPHA:14	MTTP	4547	HP:0001251	Ataxia
ORPHA:14	MTTP	4547	HP:0002024	Malabsorption
ORPHA:538	TSC1	7248	HP:0002097	Emphysema
ORPHA:538	TSC1	7248	HP:0002027	Abdominal pain
ORPHA:538	TSC1	7248	HP:0006772	Renal angiomyolipoma
ORPHA:538	TSC1	7248	HP:0010310	Chylothorax
ORPHA:538	TSC1	7248	HP:0002716	Lymphadenopathy
ORPHA:538	TSC1	7248	HP:0002091	Restrictive ventilatory defect
ORPHA:538	TSC1	7248	HP:0000008	Abnormality of female internal genitalia
ORPHA:538	TSC1	7248	HP:0100749	Chest pain
ORPHA:538	TSC1	7248	HP:0100804	Ungual fibroma
ORPHA:538	TSC1	7248	HP:0002113	Pulmonary infiltrates
ORPHA:538	TSC1	7248	HP:0000790	Hematuria
ORPHA:538	TSC1	7248	HP:0002107	Pneumothorax
ORPHA:538	TSC1	7248	HP:0012735	Cough
ORPHA:538	TSC1	7248	HP:0012798	Pulmonary lymphangiomyomatosis
ORPHA:538	TSC1	7248	HP:0002094	Dyspnea
ORPHA:538	TSC1	7248	HP:0100750	Atelectasis
ORPHA:538	TSC2	7249	HP:0002097	Emphysema
ORPHA:538	TSC2	7249	HP:0002027	Abdominal pain
ORPHA:538	TSC2	7249	HP:0006772	Renal angiomyolipoma
ORPHA:538	TSC2	7249	HP:0010310	Chylothorax
ORPHA:538	TSC2	7249	HP:0002716	Lymphadenopathy
ORPHA:538	TSC2	7249	HP:0002091	Restrictive ventilatory defect
ORPHA:538	TSC2	7249	HP:0000008	Abnormality of female internal genitalia
ORPHA:538	TSC2	7249	HP:0100749	Chest pain
ORPHA:538	TSC2	7249	HP:0100804	Ungual fibroma
ORPHA:538	TSC2	7249	HP:0002113	Pulmonary infiltrates
ORPHA:538	TSC2	7249	HP:0000790	Hematuria
ORPHA:538	TSC2	7249	HP:0002107	Pneumothorax
ORPHA:538	TSC2	7249	HP:0012735	Cough
ORPHA:538	TSC2	7249	HP:0012798	Pulmonary lymphangiomyomatosis
ORPHA:538	TSC2	7249	HP:0002094	Dyspnea
ORPHA:538	TSC2	7249	HP:0100750	Atelectasis
OMIM:600919	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:600919	ANK2	287	HP:0001279	Syncope
OMIM:600919	ANK2	287	HP:0001688	Sinus bradycardia
OMIM:600919	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:600919	ANK2	287	HP:0001425	Heterogeneous
OMIM:600919	ANK2	287	HP:0005110	Atrial fibrillation
OMIM:600919	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:192950	HOXD10	3236	HP:0008138	Equinus calcaneus
OMIM:192950	HOXD10	3236	HP:0001369	Arthritis
OMIM:192950	HOXD10	3236	HP:0001838	Rocker bottom foot
OMIM:192950	HOXD10	3236	HP:0001848	Calcaneovalgus deformity
OMIM:192950	HOXD10	3236	HP:0000006	Autosomal dominant inheritance
OMIM:610651	ERCC3	2071	HP:0004322	Short stature
OMIM:610651	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:610651	ERCC3	2071	HP:0000648	Optic atrophy
OMIM:610651	ERCC3	2071	HP:0011400	Abnormal CNS myelination
OMIM:610651	ERCC3	2071	HP:0000580	Pigmentary retinopathy
OMIM:610651	ERCC3	2071	HP:0001272	Cerebellar atrophy
OMIM:610651	ERCC3	2071	HP:0003224	Increased cellular sensitivity to UV light
OMIM:610651	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:610651	ERCC3	2071	HP:0000135	Hypogonadism
OMIM:610651	ERCC3	2071	HP:0004334	Dermal atrophy
OMIM:610651	ERCC3	2071	HP:0000407	Sensorineural hearing impairment
OMIM:610651	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
OMIM:610651	ERCC3	2071	HP:0000568	Microphthalmia
OMIM:610651	ERCC3	2071	HP:0006739	Squamous cell carcinoma of the skin
OMIM:610651	ERCC3	2071	HP:0000518	Cataract
OMIM:610651	ERCC3	2071	HP:0000252	Microcephaly
OMIM:610651	ERCC3	2071	HP:0012056	Cutaneous melanoma
OMIM:610651	ERCC3	2071	HP:0002135	Basal ganglia calcification
OMIM:610651	ERCC3	2071	HP:0005328	Progeroid facial appearance
OMIM:610651	ERCC3	2071	HP:0001251	Ataxia
OMIM:610651	ERCC3	2071	HP:0000762	Decreased nerve conduction velocity
OMIM:610651	ERCC3	2071	HP:0002671	Basal cell carcinoma
OMIM:610651	ERCC3	2071	HP:0001480	Freckling
OMIM:610651	ERCC3	2071	HP:0002119	Ventriculomegaly
OMIM:610651	ERCC3	2071	HP:0001347	Hyperreflexia
OMIM:611543	MMP19	4327	HP:0001123	Visual field defect
OMIM:611543	MMP19	4327	HP:0007663	Reduced visual acuity
OMIM:611543	MMP19	4327	HP:0000006	Autosomal dominant inheritance
OMIM:613327	CAVIN1	284119	HP:0003306	Spinal rigidity
OMIM:613327	CAVIN1	284119	HP:0001544	Prominent umbilicus
OMIM:613327	CAVIN1	284119	HP:0002155	Hypertriglyceridemia
OMIM:613327	CAVIN1	284119	HP:0003719	Muscle mounding
OMIM:613327	CAVIN1	284119	HP:0002910	Elevated hepatic transaminases
OMIM:613327	CAVIN1	284119	HP:0001657	Prolonged QT interval
OMIM:613327	CAVIN1	284119	HP:0001371	Flexion contracture
OMIM:613327	CAVIN1	284119	HP:0001397	Hepatic steatosis
OMIM:613327	CAVIN1	284119	HP:0002021	Pyloric stenosis
OMIM:613327	CAVIN1	284119	HP:0002719	Recurrent infections
OMIM:613327	CAVIN1	284119	HP:0001744	Splenomegaly
OMIM:613327	CAVIN1	284119	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613327	CAVIN1	284119	HP:0003560	Muscular dystrophy
OMIM:613327	CAVIN1	284119	HP:0003701	Proximal muscle weakness
OMIM:613327	CAVIN1	284119	HP:0001662	Bradycardia
OMIM:613327	CAVIN1	284119	HP:0000855	Insulin resistance
OMIM:613327	CAVIN1	284119	HP:0000938	Osteopenia
OMIM:613327	CAVIN1	284119	HP:0003326	Myalgia
OMIM:613327	CAVIN1	284119	HP:0000007	Autosomal recessive inheritance
OMIM:613327	CAVIN1	284119	HP:0000956	Acanthosis nigricans
OMIM:613327	CAVIN1	284119	HP:0000842	Hyperinsulinemia
OMIM:613327	CAVIN1	284119	HP:0002650	Scoliosis
OMIM:613327	CAVIN1	284119	HP:0002720	IgA deficiency
OMIM:613327	CAVIN1	284119	HP:0003552	Muscle stiffness
OMIM:613327	CAVIN1	284119	HP:0002595	Ileus
OMIM:613327	CAVIN1	284119	HP:0011968	Feeding difficulties
OMIM:613327	CAVIN1	284119	HP:0003593	Infantile onset
OMIM:613327	CAVIN1	284119	HP:0003324	Generalized muscle weakness
OMIM:613327	CAVIN1	284119	HP:0000939	Osteoporosis
OMIM:613327	CAVIN1	284119	HP:0009125	Lipodystrophy
OMIM:613327	CAVIN1	284119	HP:0002019	Constipation
OMIM:613327	CAVIN1	284119	HP:0002015	Dysphagia
OMIM:613327	CAVIN1	284119	HP:0003712	Skeletal muscle hypertrophy
OMIM:613327	CAVIN1	284119	HP:0003307	Hyperlordosis
OMIM:613327	CAVIN1	284119	HP:0003546	Exercise intolerance
OMIM:613327	CAVIN1	284119	HP:0005110	Atrial fibrillation
OMIM:613327	CAVIN1	284119	HP:0002240	Hepatomegaly
OMIM:613327	CAVIN1	284119	HP:0001508	Failure to thrive
OMIM:606002	SETX	23064	HP:0007256	Abnormal pyramidal signs
OMIM:606002	SETX	23064	HP:0010702	Increased antibody level in blood
OMIM:606002	SETX	23064	HP:0001152	Saccadic smooth pursuit
OMIM:606002	SETX	23064	HP:0002070	Limb ataxia
OMIM:606002	SETX	23064	HP:0006886	Impaired distal vibration sensation
OMIM:606002	SETX	23064	HP:0003431	Decreased motor nerve conduction velocity
OMIM:606002	SETX	23064	HP:0006879	Pontocerebellar atrophy
OMIM:606002	SETX	23064	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606002	SETX	23064	HP:0000640	Gaze-evoked nystagmus
OMIM:606002	SETX	23064	HP:0003676	Progressive
OMIM:606002	SETX	23064	HP:0001271	Polyneuropathy
OMIM:606002	SETX	23064	HP:0007240	Progressive gait ataxia
OMIM:606002	SETX	23064	HP:0003828	Variable expressivity
OMIM:606002	SETX	23064	HP:0000007	Autosomal recessive inheritance
ORPHA:403	CYP11B1	1584	HP:0011739	Dexamethasone-suppresible primary hyperaldosteronism
ORPHA:403	CYP11B1	1584	HP:0000822	Hypertension
ORPHA:403	CYP11B1	1584	HP:0040084	Abnormal circulating renin
ORPHA:403	CYP11B1	1584	HP:0008221	Adrenal hyperplasia
ORPHA:403	CYP11B2	1585	HP:0011739	Dexamethasone-suppresible primary hyperaldosteronism
ORPHA:403	CYP11B2	1585	HP:0000822	Hypertension
ORPHA:403	CYP11B2	1585	HP:0040084	Abnormal circulating renin
ORPHA:403	CYP11B2	1585	HP:0008221	Adrenal hyperplasia
OMIM:132000	COL7A1	1294	HP:0001030	Fragile skin
OMIM:132000	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:132000	COL7A1	1294	HP:0007383	Congenital localized absence of skin
OMIM:132000	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:132000	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:608390	SCN4A	6329	HP:0003552	Muscle stiffness
OMIM:608390	SCN4A	6329	HP:0025425	Laryngospasm
OMIM:608390	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:608390	SCN4A	6329	HP:0003712	Skeletal muscle hypertrophy
OMIM:608390	SCN4A	6329	HP:0010307	Stridor
OMIM:608390	SCN4A	6329	HP:0005949	Apneic episodes in infancy
OMIM:608390	SCN4A	6329	HP:0002486	Myotonia
OMIM:608390	SCN4A	6329	HP:0003326	Myalgia
OMIM:604091	ABCA1	19	HP:0000006	Autosomal dominant inheritance
OMIM:604091	ABCA1	19	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:604091	APOA1	335	HP:0000006	Autosomal dominant inheritance
OMIM:604091	APOA1	335	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:180	CHM	1121	HP:0000545	Myopia
ORPHA:180	CHM	1121	HP:0000505	Visual impairment
ORPHA:180	CHM	1121	HP:0000512	Abnormal electroretinogram
ORPHA:180	CHM	1121	HP:0000529	Progressive visual loss
ORPHA:180	CHM	1121	HP:0007703	Abnormality of retinal pigmentation
ORPHA:180	CHM	1121	HP:0000662	Nyctalopia
OMIM:616622	RORC	6097	HP:0003593	Infantile onset
OMIM:616622	RORC	6097	HP:0000778	Hypoplasia of the thymus
OMIM:616622	RORC	6097	HP:0000007	Autosomal recessive inheritance
OMIM:601358	SMARCA2	6595	HP:0001852	Sandal gap
OMIM:601358	SMARCA2	6595	HP:0000006	Autosomal dominant inheritance
OMIM:601358	SMARCA2	6595	HP:0000154	Wide mouth
OMIM:601358	SMARCA2	6595	HP:0000289	Broad philtrum
OMIM:601358	SMARCA2	6595	HP:0001511	Intrauterine growth retardation
OMIM:601358	SMARCA2	6595	HP:0002465	Poor speech
OMIM:601358	SMARCA2	6595	HP:0001156	Brachydactyly
OMIM:601358	SMARCA2	6595	HP:0001344	Absent speech
OMIM:601358	SMARCA2	6595	HP:0002209	Sparse scalp hair
OMIM:601358	SMARCA2	6595	HP:0010743	Short metatarsal
OMIM:601358	SMARCA2	6595	HP:0009803	Short phalanx of finger
OMIM:601358	SMARCA2	6595	HP:0000343	Long philtrum
OMIM:601358	SMARCA2	6595	HP:0000718	Aggressive behavior
OMIM:601358	SMARCA2	6595	HP:0000463	Anteverted nares
OMIM:601358	SMARCA2	6595	HP:0001508	Failure to thrive
OMIM:601358	SMARCA2	6595	HP:0000232	Everted lower lip vermilion
OMIM:601358	SMARCA2	6595	HP:0000294	Low anterior hairline
OMIM:601358	SMARCA2	6595	HP:0001250	Seizures
OMIM:601358	SMARCA2	6595	HP:0010049	Short metacarpal
OMIM:601358	SMARCA2	6595	HP:0000179	Thick lower lip vermilion
OMIM:601358	SMARCA2	6595	HP:0010864	Intellectual disability, severe
OMIM:601358	SMARCA2	6595	HP:0000028	Cryptorchidism
OMIM:601358	SMARCA2	6595	HP:0006237	Prominent interphalangeal joints
OMIM:601358	SMARCA2	6595	HP:0012810	Wide nasal base
OMIM:601358	SMARCA2	6595	HP:0000325	Triangular face
OMIM:601358	SMARCA2	6595	HP:0002223	Absent eyebrow
OMIM:601358	SMARCA2	6595	HP:0000252	Microcephaly
OMIM:612422	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:612422	TNNT2	7139	HP:0001638	Cardiomyopathy
ORPHA:276556	UCP2	7351	HP:0001649	Tachycardia
ORPHA:276556	UCP2	7351	HP:0001985	Hypoketotic hypoglycemia
ORPHA:276556	UCP2	7351	HP:0000980	Pallor
ORPHA:276556	UCP2	7351	HP:0004359	Abnormality of fatty-acid metabolism
ORPHA:276556	UCP2	7351	HP:0002240	Hepatomegaly
ORPHA:276556	UCP2	7351	HP:0002344	Progressive neurologic deterioration
ORPHA:276556	UCP2	7351	HP:0000975	Hyperhidrosis
ORPHA:276556	UCP2	7351	HP:0004510	Pancreatic islet-cell hyperplasia
ORPHA:276556	UCP2	7351	HP:0001254	Lethargy
ORPHA:276556	UCP2	7351	HP:0001259	Coma
ORPHA:276556	UCP2	7351	HP:0002014	Diarrhea
ORPHA:276556	UCP2	7351	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:276556	UCP2	7351	HP:0001998	Neonatal hypoglycemia
ORPHA:276556	UCP2	7351	HP:0002013	Vomiting
ORPHA:2268	ZBTB24	9841	HP:0001903	Anemia
ORPHA:2268	ZBTB24	9841	HP:0005374	Cellular immunodeficiency
ORPHA:2268	ZBTB24	9841	HP:0001263	Global developmental delay
ORPHA:2268	ZBTB24	9841	HP:0001334	Communicating hydrocephalus
ORPHA:2268	ZBTB24	9841	HP:0001888	Lymphopenia
ORPHA:2268	ZBTB24	9841	HP:0003220	Abnormality of chromosome stability
ORPHA:2268	ZBTB24	9841	HP:0000256	Macrocephaly
ORPHA:2268	ZBTB24	9841	HP:0002024	Malabsorption
ORPHA:2268	ZBTB24	9841	HP:0002205	Recurrent respiratory infections
ORPHA:2268	ZBTB24	9841	HP:0005280	Depressed nasal bridge
ORPHA:2268	ZBTB24	9841	HP:0004322	Short stature
ORPHA:2268	ZBTB24	9841	HP:0004313	Decreased antibody level in blood
ORPHA:2268	ZBTB24	9841	HP:0001249	Intellectual disability
ORPHA:2268	ZBTB24	9841	HP:0001874	Abnormality of neutrophils
ORPHA:2268	ZBTB24	9841	HP:0000347	Micrognathia
ORPHA:2268	CDCA7	83879	HP:0001903	Anemia
ORPHA:2268	CDCA7	83879	HP:0005374	Cellular immunodeficiency
ORPHA:2268	CDCA7	83879	HP:0001263	Global developmental delay
ORPHA:2268	CDCA7	83879	HP:0001334	Communicating hydrocephalus
ORPHA:2268	CDCA7	83879	HP:0001888	Lymphopenia
ORPHA:2268	CDCA7	83879	HP:0003220	Abnormality of chromosome stability
ORPHA:2268	CDCA7	83879	HP:0000256	Macrocephaly
ORPHA:2268	CDCA7	83879	HP:0002024	Malabsorption
ORPHA:2268	CDCA7	83879	HP:0002205	Recurrent respiratory infections
ORPHA:2268	CDCA7	83879	HP:0005280	Depressed nasal bridge
ORPHA:2268	CDCA7	83879	HP:0004322	Short stature
ORPHA:2268	CDCA7	83879	HP:0004313	Decreased antibody level in blood
ORPHA:2268	CDCA7	83879	HP:0001249	Intellectual disability
ORPHA:2268	CDCA7	83879	HP:0001874	Abnormality of neutrophils
ORPHA:2268	CDCA7	83879	HP:0000347	Micrognathia
ORPHA:2268	DNMT3B	1789	HP:0001903	Anemia
ORPHA:2268	DNMT3B	1789	HP:0005374	Cellular immunodeficiency
ORPHA:2268	DNMT3B	1789	HP:0001263	Global developmental delay
ORPHA:2268	DNMT3B	1789	HP:0001334	Communicating hydrocephalus
ORPHA:2268	DNMT3B	1789	HP:0001888	Lymphopenia
ORPHA:2268	DNMT3B	1789	HP:0003220	Abnormality of chromosome stability
ORPHA:2268	DNMT3B	1789	HP:0000256	Macrocephaly
ORPHA:2268	DNMT3B	1789	HP:0002024	Malabsorption
ORPHA:2268	DNMT3B	1789	HP:0002205	Recurrent respiratory infections
ORPHA:2268	DNMT3B	1789	HP:0005280	Depressed nasal bridge
ORPHA:2268	DNMT3B	1789	HP:0004322	Short stature
ORPHA:2268	DNMT3B	1789	HP:0004313	Decreased antibody level in blood
ORPHA:2268	DNMT3B	1789	HP:0001249	Intellectual disability
ORPHA:2268	DNMT3B	1789	HP:0001874	Abnormality of neutrophils
ORPHA:2268	DNMT3B	1789	HP:0000347	Micrognathia
ORPHA:2268	HELLS	3070	HP:0001903	Anemia
ORPHA:2268	HELLS	3070	HP:0005374	Cellular immunodeficiency
ORPHA:2268	HELLS	3070	HP:0001263	Global developmental delay
ORPHA:2268	HELLS	3070	HP:0001334	Communicating hydrocephalus
ORPHA:2268	HELLS	3070	HP:0001888	Lymphopenia
ORPHA:2268	HELLS	3070	HP:0003220	Abnormality of chromosome stability
ORPHA:2268	HELLS	3070	HP:0000256	Macrocephaly
ORPHA:2268	HELLS	3070	HP:0002024	Malabsorption
ORPHA:2268	HELLS	3070	HP:0002205	Recurrent respiratory infections
ORPHA:2268	HELLS	3070	HP:0005280	Depressed nasal bridge
ORPHA:2268	HELLS	3070	HP:0004322	Short stature
ORPHA:2268	HELLS	3070	HP:0004313	Decreased antibody level in blood
ORPHA:2268	HELLS	3070	HP:0001249	Intellectual disability
ORPHA:2268	HELLS	3070	HP:0001874	Abnormality of neutrophils
ORPHA:2268	HELLS	3070	HP:0000347	Micrognathia
OMIM:119300	IRF6	3664	HP:0000196	Lower lip pit
OMIM:119300	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:119300	IRF6	3664	HP:0000175	Cleft palate
OMIM:119300	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:119300	IRF6	3664	HP:0000193	Bifid uvula
OMIM:119300	IRF6	3664	HP:0000668	Hypodontia
OMIM:180000	COL4A1	1282	HP:0000573	Retinal hemorrhage
OMIM:180000	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:180000	COL4A1	1282	HP:0000572	Visual loss
OMIM:180000	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:617051	PUS3	83480	HP:0001290	Generalized hypotonia
OMIM:617051	PUS3	83480	HP:0001263	Global developmental delay
OMIM:617051	PUS3	83480	HP:0000486	Strabismus
OMIM:617051	PUS3	83480	HP:0002059	Cerebral atrophy
OMIM:617051	PUS3	83480	HP:0003593	Infantile onset
OMIM:617051	PUS3	83480	HP:0100702	Arachnoid cyst
OMIM:617051	PUS3	83480	HP:0002187	Intellectual disability, profound
OMIM:617051	PUS3	83480	HP:0000007	Autosomal recessive inheritance
OMIM:617051	PUS3	83480	HP:0002119	Ventriculomegaly
OMIM:617051	PUS3	83480	HP:0000252	Microcephaly
OMIM:617051	PUS3	83480	HP:0000280	Coarse facial features
OMIM:616200	SPRTN	83932	HP:0002987	Elbow flexion contracture
OMIM:616200	SPRTN	83932	HP:0000426	Prominent nasal bridge
OMIM:616200	SPRTN	83932	HP:0000414	Bulbous nose
OMIM:616200	SPRTN	83932	HP:0005659	Thoracic kyphoscoliosis
OMIM:616200	SPRTN	83932	HP:0004322	Short stature
OMIM:616200	SPRTN	83932	HP:0000325	Triangular face
OMIM:616200	SPRTN	83932	HP:0200021	Down-sloping shoulders
OMIM:616200	SPRTN	83932	HP:0003202	Skeletal muscle atrophy
OMIM:616200	SPRTN	83932	HP:0002007	Frontal bossing
OMIM:616200	SPRTN	83932	HP:0002750	Delayed skeletal maturation
OMIM:616200	SPRTN	83932	HP:0004325	Decreased body weight
OMIM:616200	SPRTN	83932	HP:0000347	Micrognathia
OMIM:616200	SPRTN	83932	HP:0007787	Posterior subcapsular cataract
OMIM:616200	SPRTN	83932	HP:0009125	Lipodystrophy
OMIM:616200	SPRTN	83932	HP:0000007	Autosomal recessive inheritance
OMIM:616200	SPRTN	83932	HP:0001763	Pes planus
OMIM:616200	SPRTN	83932	HP:0001402	Hepatocellular carcinoma
OMIM:616200	SPRTN	83932	HP:0000767	Pectus excavatum
OMIM:235730	ZEB2	9839	HP:0003270	Abdominal distention
OMIM:235730	ZEB2	9839	HP:0000687	Widely spaced teeth
OMIM:235730	ZEB2	9839	HP:0002307	Drooling
OMIM:235730	ZEB2	9839	HP:0000684	Delayed eruption of teeth
OMIM:235730	ZEB2	9839	HP:0000768	Pectus carinatum
OMIM:235730	ZEB2	9839	HP:0002013	Vomiting
OMIM:235730	ZEB2	9839	HP:0000006	Autosomal dominant inheritance
OMIM:235730	ZEB2	9839	HP:0001290	Generalized hypotonia
OMIM:235730	ZEB2	9839	HP:0004298	Abnormality of the abdominal wall
OMIM:235730	ZEB2	9839	HP:0001547	Abnormality of the rib cage
OMIM:235730	ZEB2	9839	HP:0002079	Hypoplasia of the corpus callosum
OMIM:235730	ZEB2	9839	HP:0004961	Pulmonary artery sling
OMIM:235730	ZEB2	9839	HP:0011229	Broad eyebrow
OMIM:235730	ZEB2	9839	HP:0001642	Pulmonic stenosis
OMIM:235730	ZEB2	9839	HP:0001631	Atrial septal defect
OMIM:235730	ZEB2	9839	HP:0000767	Pectus excavatum
OMIM:235730	ZEB2	9839	HP:0001643	Patent ductus arteriosus
OMIM:235730	ZEB2	9839	HP:0001344	Absent speech
OMIM:235730	ZEB2	9839	HP:0004415	Pulmonary artery stenosis
OMIM:235730	ZEB2	9839	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:235730	ZEB2	9839	HP:0001629	Ventricular septal defect
OMIM:235730	ZEB2	9839	HP:0040082	Happy demeanor
OMIM:235730	ZEB2	9839	HP:0002558	Supernumerary nipple
OMIM:235730	ZEB2	9839	HP:0002342	Intellectual disability, moderate
OMIM:235730	ZEB2	9839	HP:0001270	Motor delay
ORPHA:1901	ADAMTS2	9509	HP:0002020	Gastroesophageal reflux
ORPHA:1901	ADAMTS2	9509	HP:0005692	Joint hyperflexibility
ORPHA:1901	ADAMTS2	9509	HP:0002357	Dysphasia
ORPHA:1901	ADAMTS2	9509	HP:0002749	Osteomalacia
ORPHA:1901	ADAMTS2	9509	HP:0000278	Retrognathia
ORPHA:1901	ADAMTS2	9509	HP:0000974	Hyperextensible skin
ORPHA:1901	ADAMTS2	9509	HP:0000023	Inguinal hernia
ORPHA:1901	ADAMTS2	9509	HP:0001385	Hip dysplasia
ORPHA:1901	ADAMTS2	9509	HP:0100541	Femoral hernia
ORPHA:1901	ADAMTS2	9509	HP:0002381	Aphasia
ORPHA:1901	ADAMTS2	9509	HP:0000939	Osteoporosis
ORPHA:1901	ADAMTS2	9509	HP:0000938	Osteopenia
ORPHA:1901	ADAMTS2	9509	HP:0100699	Scarring
ORPHA:1901	ADAMTS2	9509	HP:0000963	Thin skin
ORPHA:1901	ADAMTS2	9509	HP:0002036	Hiatus hernia
ORPHA:1901	ADAMTS2	9509	HP:0002650	Scoliosis
ORPHA:1901	ADAMTS2	9509	HP:0007392	Excessive wrinkled skin
ORPHA:1901	ADAMTS2	9509	HP:0002673	Coxa valga
ORPHA:1901	ADAMTS2	9509	HP:0100633	Esophagitis
ORPHA:1901	ADAMTS2	9509	HP:0010529	Echolalia
ORPHA:1901	ADAMTS2	9509	HP:0002300	Mutism
ORPHA:1901	ADAMTS2	9509	HP:0003510	Severe short stature
ORPHA:1901	ADAMTS2	9509	HP:0002812	Coxa vara
ORPHA:1901	ADAMTS2	9509	HP:0001001	Abnormality of subcutaneous fat tissue
ORPHA:1901	ADAMTS2	9509	HP:0005280	Depressed nasal bridge
ORPHA:1901	ADAMTS2	9509	HP:0001387	Joint stiffness
ORPHA:1901	ADAMTS2	9509	HP:0002748	Rickets
ORPHA:1901	ADAMTS2	9509	HP:0000286	Epicanthus
ORPHA:1901	ADAMTS2	9509	HP:0001252	Muscular hypotonia
ORPHA:1901	ADAMTS2	9509	HP:0005743	Avascular necrosis of the capital femoral epiphysis
ORPHA:1901	ADAMTS2	9509	HP:0002827	Hip dislocation
ORPHA:1901	ADAMTS2	9509	HP:0003010	Prolonged bleeding time
ORPHA:1901	ADAMTS2	9509	HP:0000347	Micrognathia
ORPHA:2598	PUS1	80324	HP:0001903	Anemia
ORPHA:2598	PUS1	80324	HP:0000252	Microcephaly
ORPHA:2598	PUS1	80324	HP:0000823	Delayed puberty
ORPHA:2598	PUS1	80324	HP:0000218	High palate
ORPHA:2598	PUS1	80324	HP:0000343	Long philtrum
ORPHA:2598	PUS1	80324	HP:0002650	Scoliosis
ORPHA:2598	PUS1	80324	HP:0003196	Short nose
ORPHA:2598	PUS1	80324	HP:0000347	Micrognathia
ORPHA:2598	PUS1	80324	HP:0003128	Lactic acidosis
ORPHA:2598	PUS1	80324	HP:0002808	Kyphosis
ORPHA:2598	PUS1	80324	HP:0003737	Mitochondrial myopathy
ORPHA:2598	PUS1	80324	HP:0003198	Myopathy
ORPHA:2598	PUS1	80324	HP:0003457	EMG abnormality
ORPHA:2598	PUS1	80324	HP:0000501	Glaucoma
ORPHA:2598	PUS1	80324	HP:0001249	Intellectual disability
ORPHA:2598	PUS1	80324	HP:0001252	Muscular hypotonia
ORPHA:2598	PUS1	80324	HP:0009055	Generalized limb muscle atrophy
ORPHA:2598	PUS1	80324	HP:0009743	Distichiasis
ORPHA:2598	YARS2	51067	HP:0001903	Anemia
ORPHA:2598	YARS2	51067	HP:0000252	Microcephaly
ORPHA:2598	YARS2	51067	HP:0000823	Delayed puberty
ORPHA:2598	YARS2	51067	HP:0000218	High palate
ORPHA:2598	YARS2	51067	HP:0000343	Long philtrum
ORPHA:2598	YARS2	51067	HP:0002650	Scoliosis
ORPHA:2598	YARS2	51067	HP:0003196	Short nose
ORPHA:2598	YARS2	51067	HP:0000347	Micrognathia
ORPHA:2598	YARS2	51067	HP:0003128	Lactic acidosis
ORPHA:2598	YARS2	51067	HP:0002808	Kyphosis
ORPHA:2598	YARS2	51067	HP:0003737	Mitochondrial myopathy
ORPHA:2598	YARS2	51067	HP:0003198	Myopathy
ORPHA:2598	YARS2	51067	HP:0003457	EMG abnormality
ORPHA:2598	YARS2	51067	HP:0000501	Glaucoma
ORPHA:2598	YARS2	51067	HP:0001249	Intellectual disability
ORPHA:2598	YARS2	51067	HP:0001252	Muscular hypotonia
ORPHA:2598	YARS2	51067	HP:0009055	Generalized limb muscle atrophy
ORPHA:2598	YARS2	51067	HP:0009743	Distichiasis
OMIM:616948	VWA3B	200403	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616948	VWA3B	200403	HP:0000639	Nystagmus
OMIM:616948	VWA3B	200403	HP:0002061	Lower limb spasticity
OMIM:616948	VWA3B	200403	HP:0000007	Autosomal recessive inheritance
OMIM:616948	VWA3B	200403	HP:0001310	Dysmetria
OMIM:616948	VWA3B	200403	HP:0002317	Unsteady gait
OMIM:616948	VWA3B	200403	HP:0001272	Cerebellar atrophy
OMIM:616948	VWA3B	200403	HP:0001260	Dysarthria
OMIM:616948	VWA3B	200403	HP:0001249	Intellectual disability
OMIM:616948	VWA3B	200403	HP:0002078	Truncal ataxia
OMIM:616948	VWA3B	200403	HP:0002080	Intention tremor
OMIM:616948	VWA3B	200403	HP:0001347	Hyperreflexia
OMIM:616948	VWA3B	200403	HP:0007256	Abnormal pyramidal signs
OMIM:616948	VWA3B	200403	HP:0003677	Slow progression
OMIM:607450	DSP	1832	HP:0001635	Congestive heart failure
OMIM:607450	DSP	1832	HP:0004756	Ventricular tachycardia
OMIM:607450	DSP	1832	HP:0001425	Heterogeneous
OMIM:607450	DSP	1832	HP:0006682	Ventricular extrasystoles
OMIM:607450	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:607450	DSP	1832	HP:0001645	Sudden cardiac death
OMIM:607450	DSP	1832	HP:0001663	Ventricular fibrillation
OMIM:607450	DSP	1832	HP:0011663	Right ventricular cardiomyopathy
OMIM:236670	POMT2	29954	HP:0000110	Renal dysplasia
OMIM:236670	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:236670	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMT2	29954	HP:0002085	Occipital encephalocele
OMIM:236670	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:236670	POMT2	29954	HP:0008551	Microtia
OMIM:236670	POMT2	29954	HP:0001105	Retinal atrophy
OMIM:236670	POMT2	29954	HP:0001263	Global developmental delay
OMIM:236670	POMT2	29954	HP:0000485	Megalocornea
OMIM:236670	POMT2	29954	HP:0007957	Corneal opacity
OMIM:236670	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:236670	POMT2	29954	HP:0000568	Microphthalmia
OMIM:236670	POMT2	29954	HP:0000659	Peters anomaly
OMIM:236670	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:236670	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:236670	POMT2	29954	HP:0001250	Seizures
OMIM:236670	POMT2	29954	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMT2	29954	HP:0000175	Cleft palate
OMIM:236670	POMT2	29954	HP:0000589	Coloboma
OMIM:236670	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMT2	29954	HP:0002023	Anal atresia
OMIM:236670	POMT2	29954	HP:0006891	Thick cerebral cortex
OMIM:236670	POMT2	29954	HP:0000557	Buphthalmos
OMIM:236670	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMT2	29954	HP:0000545	Myopia
OMIM:236670	POMT2	29954	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMT2	29954	HP:0002803	Congenital contracture
OMIM:236670	POMT2	29954	HP:0000541	Retinal detachment
OMIM:236670	POMT2	29954	HP:0001425	Heterogeneous
OMIM:236670	POMT2	29954	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMT2	29954	HP:0000252	Microcephaly
OMIM:236670	POMT2	29954	HP:0000204	Cleft upper lip
OMIM:236670	POMT2	29954	HP:0007291	Posterior fossa cyst
OMIM:236670	POMT2	29954	HP:0000518	Cataract
OMIM:236670	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMT2	29954	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:236670	POMT2	29954	HP:0000618	Blindness
OMIM:236670	POMT2	29954	HP:0006888	Meningoencephalocele
OMIM:236670	POMT2	29954	HP:0001302	Pachygyria
OMIM:236670	POMT2	29954	HP:0003812	Phenotypic variability
OMIM:236670	POMT2	29954	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMT1	10585	HP:0000110	Renal dysplasia
OMIM:236670	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:236670	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMT1	10585	HP:0002085	Occipital encephalocele
OMIM:236670	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:236670	POMT1	10585	HP:0008551	Microtia
OMIM:236670	POMT1	10585	HP:0001105	Retinal atrophy
OMIM:236670	POMT1	10585	HP:0001263	Global developmental delay
OMIM:236670	POMT1	10585	HP:0000485	Megalocornea
OMIM:236670	POMT1	10585	HP:0007957	Corneal opacity
OMIM:236670	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:236670	POMT1	10585	HP:0000568	Microphthalmia
OMIM:236670	POMT1	10585	HP:0000659	Peters anomaly
OMIM:236670	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:236670	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:236670	POMT1	10585	HP:0001250	Seizures
OMIM:236670	POMT1	10585	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMT1	10585	HP:0000175	Cleft palate
OMIM:236670	POMT1	10585	HP:0000589	Coloboma
OMIM:236670	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMT1	10585	HP:0002023	Anal atresia
OMIM:236670	POMT1	10585	HP:0006891	Thick cerebral cortex
OMIM:236670	POMT1	10585	HP:0000557	Buphthalmos
OMIM:236670	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMT1	10585	HP:0000545	Myopia
OMIM:236670	POMT1	10585	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMT1	10585	HP:0002803	Congenital contracture
OMIM:236670	POMT1	10585	HP:0000541	Retinal detachment
OMIM:236670	POMT1	10585	HP:0001425	Heterogeneous
OMIM:236670	POMT1	10585	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMT1	10585	HP:0000252	Microcephaly
OMIM:236670	POMT1	10585	HP:0000204	Cleft upper lip
OMIM:236670	POMT1	10585	HP:0007291	Posterior fossa cyst
OMIM:236670	POMT1	10585	HP:0000518	Cataract
OMIM:236670	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMT1	10585	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:236670	POMT1	10585	HP:0000618	Blindness
OMIM:236670	POMT1	10585	HP:0006888	Meningoencephalocele
OMIM:236670	POMT1	10585	HP:0001302	Pachygyria
OMIM:236670	POMT1	10585	HP:0003812	Phenotypic variability
OMIM:236670	POMT1	10585	HP:0000413	Atresia of the external auditory canal
OMIM:236670	FKTN	2218	HP:0000110	Renal dysplasia
OMIM:236670	FKTN	2218	HP:0010864	Intellectual disability, severe
OMIM:236670	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:236670	FKTN	2218	HP:0002085	Occipital encephalocele
OMIM:236670	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:236670	FKTN	2218	HP:0008551	Microtia
OMIM:236670	FKTN	2218	HP:0001105	Retinal atrophy
OMIM:236670	FKTN	2218	HP:0001263	Global developmental delay
OMIM:236670	FKTN	2218	HP:0000485	Megalocornea
OMIM:236670	FKTN	2218	HP:0007957	Corneal opacity
OMIM:236670	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:236670	FKTN	2218	HP:0000568	Microphthalmia
OMIM:236670	FKTN	2218	HP:0000659	Peters anomaly
OMIM:236670	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:236670	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:236670	FKTN	2218	HP:0001250	Seizures
OMIM:236670	FKTN	2218	HP:0002189	Excessive daytime sleepiness
OMIM:236670	FKTN	2218	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	FKTN	2218	HP:0000175	Cleft palate
OMIM:236670	FKTN	2218	HP:0000589	Coloboma
OMIM:236670	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:236670	FKTN	2218	HP:0002023	Anal atresia
OMIM:236670	FKTN	2218	HP:0006891	Thick cerebral cortex
OMIM:236670	FKTN	2218	HP:0000557	Buphthalmos
OMIM:236670	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:236670	FKTN	2218	HP:0000545	Myopia
OMIM:236670	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:236670	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:236670	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:236670	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	FKTN	2218	HP:0002803	Congenital contracture
OMIM:236670	FKTN	2218	HP:0000541	Retinal detachment
OMIM:236670	FKTN	2218	HP:0001425	Heterogeneous
OMIM:236670	FKTN	2218	HP:0000609	Optic nerve hypoplasia
OMIM:236670	FKTN	2218	HP:0000252	Microcephaly
OMIM:236670	FKTN	2218	HP:0000204	Cleft upper lip
OMIM:236670	FKTN	2218	HP:0007291	Posterior fossa cyst
OMIM:236670	FKTN	2218	HP:0000518	Cataract
OMIM:236670	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:236670	FKTN	2218	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:236670	FKTN	2218	HP:0000618	Blindness
OMIM:236670	FKTN	2218	HP:0006888	Meningoencephalocele
OMIM:236670	FKTN	2218	HP:0001302	Pachygyria
OMIM:236670	FKTN	2218	HP:0003812	Phenotypic variability
OMIM:236670	FKTN	2218	HP:0000413	Atresia of the external auditory canal
OMIM:236670	FKRP	79147	HP:0000110	Renal dysplasia
OMIM:236670	FKRP	79147	HP:0010864	Intellectual disability, severe
OMIM:236670	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:236670	FKRP	79147	HP:0002085	Occipital encephalocele
OMIM:236670	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:236670	FKRP	79147	HP:0008551	Microtia
OMIM:236670	FKRP	79147	HP:0001105	Retinal atrophy
OMIM:236670	FKRP	79147	HP:0001263	Global developmental delay
OMIM:236670	FKRP	79147	HP:0000485	Megalocornea
OMIM:236670	FKRP	79147	HP:0007957	Corneal opacity
OMIM:236670	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:236670	FKRP	79147	HP:0000568	Microphthalmia
OMIM:236670	FKRP	79147	HP:0000659	Peters anomaly
OMIM:236670	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:236670	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:236670	FKRP	79147	HP:0001250	Seizures
OMIM:236670	FKRP	79147	HP:0002189	Excessive daytime sleepiness
OMIM:236670	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	FKRP	79147	HP:0000175	Cleft palate
OMIM:236670	FKRP	79147	HP:0000589	Coloboma
OMIM:236670	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:236670	FKRP	79147	HP:0002023	Anal atresia
OMIM:236670	FKRP	79147	HP:0006891	Thick cerebral cortex
OMIM:236670	FKRP	79147	HP:0000557	Buphthalmos
OMIM:236670	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:236670	FKRP	79147	HP:0000545	Myopia
OMIM:236670	FKRP	79147	HP:0001274	Agenesis of corpus callosum
OMIM:236670	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:236670	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:236670	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	FKRP	79147	HP:0002803	Congenital contracture
OMIM:236670	FKRP	79147	HP:0000541	Retinal detachment
OMIM:236670	FKRP	79147	HP:0001425	Heterogeneous
OMIM:236670	FKRP	79147	HP:0000609	Optic nerve hypoplasia
OMIM:236670	FKRP	79147	HP:0000252	Microcephaly
OMIM:236670	FKRP	79147	HP:0000204	Cleft upper lip
OMIM:236670	FKRP	79147	HP:0007291	Posterior fossa cyst
OMIM:236670	FKRP	79147	HP:0000518	Cataract
OMIM:236670	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:236670	FKRP	79147	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:236670	FKRP	79147	HP:0000618	Blindness
OMIM:236670	FKRP	79147	HP:0006888	Meningoencephalocele
OMIM:236670	FKRP	79147	HP:0001302	Pachygyria
OMIM:236670	FKRP	79147	HP:0003812	Phenotypic variability
OMIM:236670	FKRP	79147	HP:0000413	Atresia of the external auditory canal
OMIM:236670	LARGE1	9215	HP:0000110	Renal dysplasia
OMIM:236670	LARGE1	9215	HP:0010864	Intellectual disability, severe
OMIM:236670	LARGE1	9215	HP:0000007	Autosomal recessive inheritance
OMIM:236670	LARGE1	9215	HP:0002085	Occipital encephalocele
OMIM:236670	LARGE1	9215	HP:0002187	Intellectual disability, profound
OMIM:236670	LARGE1	9215	HP:0008551	Microtia
OMIM:236670	LARGE1	9215	HP:0001105	Retinal atrophy
OMIM:236670	LARGE1	9215	HP:0001263	Global developmental delay
OMIM:236670	LARGE1	9215	HP:0000485	Megalocornea
OMIM:236670	LARGE1	9215	HP:0007957	Corneal opacity
OMIM:236670	LARGE1	9215	HP:0000238	Hydrocephalus
OMIM:236670	LARGE1	9215	HP:0000568	Microphthalmia
OMIM:236670	LARGE1	9215	HP:0000659	Peters anomaly
OMIM:236670	LARGE1	9215	HP:0002126	Polymicrogyria
OMIM:236670	LARGE1	9215	HP:0007973	Retinal dysplasia
OMIM:236670	LARGE1	9215	HP:0001250	Seizures
OMIM:236670	LARGE1	9215	HP:0002189	Excessive daytime sleepiness
OMIM:236670	LARGE1	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	LARGE1	9215	HP:0000175	Cleft palate
OMIM:236670	LARGE1	9215	HP:0000589	Coloboma
OMIM:236670	LARGE1	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	LARGE1	9215	HP:0001305	Dandy-Walker malformation
OMIM:236670	LARGE1	9215	HP:0002023	Anal atresia
OMIM:236670	LARGE1	9215	HP:0006891	Thick cerebral cortex
OMIM:236670	LARGE1	9215	HP:0000557	Buphthalmos
OMIM:236670	LARGE1	9215	HP:0006829	Severe muscular hypotonia
OMIM:236670	LARGE1	9215	HP:0000545	Myopia
OMIM:236670	LARGE1	9215	HP:0001274	Agenesis of corpus callosum
OMIM:236670	LARGE1	9215	HP:0003741	Congenital muscular dystrophy
OMIM:236670	LARGE1	9215	HP:0001321	Cerebellar hypoplasia
OMIM:236670	LARGE1	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	LARGE1	9215	HP:0002803	Congenital contracture
OMIM:236670	LARGE1	9215	HP:0000541	Retinal detachment
OMIM:236670	LARGE1	9215	HP:0001425	Heterogeneous
OMIM:236670	LARGE1	9215	HP:0000609	Optic nerve hypoplasia
OMIM:236670	LARGE1	9215	HP:0000252	Microcephaly
OMIM:236670	LARGE1	9215	HP:0000204	Cleft upper lip
OMIM:236670	LARGE1	9215	HP:0007291	Posterior fossa cyst
OMIM:236670	LARGE1	9215	HP:0000518	Cataract
OMIM:236670	LARGE1	9215	HP:0007033	Cerebellar dysplasia
OMIM:236670	LARGE1	9215	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	LARGE1	9215	HP:0007260	Type II lissencephaly
OMIM:236670	LARGE1	9215	HP:0000618	Blindness
OMIM:236670	LARGE1	9215	HP:0006888	Meningoencephalocele
OMIM:236670	LARGE1	9215	HP:0001302	Pachygyria
OMIM:236670	LARGE1	9215	HP:0003812	Phenotypic variability
OMIM:236670	LARGE1	9215	HP:0000413	Atresia of the external auditory canal
ORPHA:2514	DPP6	1804	HP:0000252	Microcephaly
ORPHA:2514	DPP6	1804	HP:0009804	Reduced number of teeth
ORPHA:2514	DPP6	1804	HP:0004322	Short stature
ORPHA:2514	DPP6	1804	HP:0001137	Alternating esotropia
OMIM:305100	EDA	1896	HP:0000668	Hypodontia
OMIM:305100	EDA	1896	HP:0002046	Heat intolerance
OMIM:305100	EDA	1896	HP:0001006	Hypotrichosis
OMIM:305100	EDA	1896	HP:0000535	Sparse and thin eyebrow
OMIM:305100	EDA	1896	HP:0000970	Anhidrosis
OMIM:305100	EDA	1896	HP:0001106	Periorbital hyperpigmentation
OMIM:305100	EDA	1896	HP:0002007	Frontal bossing
OMIM:305100	EDA	1896	HP:0002557	Hypoplastic nipples
OMIM:305100	EDA	1896	HP:0005280	Depressed nasal bridge
OMIM:305100	EDA	1896	HP:0001609	Hoarse voice
OMIM:305100	EDA	1896	HP:0000958	Dry skin
OMIM:305100	EDA	1896	HP:0002299	Brittle hair
OMIM:305100	EDA	1896	HP:0001419	X-linked recessive inheritance
OMIM:305100	EDA	1896	HP:0000607	Periorbital wrinkles
OMIM:305100	EDA	1896	HP:0003196	Short nose
OMIM:305100	EDA	1896	HP:0001425	Heterogeneous
OMIM:305100	EDA	1896	HP:0010803	Everted upper lip vermilion
OMIM:305100	EDA	1896	HP:0000977	Soft skin
OMIM:305100	EDA	1896	HP:0000336	Prominent supraorbital ridges
OMIM:305100	EDA	1896	HP:0011830	Abnormality of oral mucosa
OMIM:305100	EDA	1896	HP:0002223	Absent eyebrow
OMIM:305100	EDA	1896	HP:0002098	Respiratory distress
OMIM:305100	EDA	1896	HP:0000691	Microdontia
OMIM:305100	EDA	1896	HP:0000698	Conical tooth
OMIM:305100	EDA	1896	HP:0002561	Absent nipple
OMIM:305100	EDA	1896	HP:0007411	Hypoplastic-absent sebaceous glands
OMIM:305100	EDA	1896	HP:0000966	Hypohidrosis
OMIM:305100	EDA	1896	HP:0012471	Thick vermilion border
OMIM:305100	EDA	1896	HP:0000653	Sparse eyelashes
OMIM:305100	EDA	1896	HP:0000679	Taurodontia
OMIM:305100	EDA	1896	HP:0000964	Eczema
OMIM:305100	EDA	1896	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
OMIM:305100	EDA	1896	HP:0001598	Concave nail
OMIM:305100	EDA	1896	HP:0000331	Short chin
OMIM:305100	EDA	1896	HP:0007607	Hypohidrotic ectodermal dysplasia
OMIM:305100	EDA	1896	HP:0000327	Hypoplasia of the maxilla
OMIM:305100	EDA	1896	HP:0001618	Dysphonia
OMIM:305100	EDA	1896	HP:0000430	Underdeveloped nasal alae
OMIM:305100	EDA	1896	HP:0001945	Fever
OMIM:305100	EDA	1896	HP:0000232	Everted lower lip vermilion
OMIM:305100	EDA	1896	HP:0000963	Thin skin
OMIM:613860	FCN3	8547	HP:0200043	Verrucae
OMIM:613860	FCN3	8547	HP:0002722	Recurrent abscess formation
OMIM:613860	FCN3	8547	HP:0000007	Autosomal recessive inheritance
OMIM:613860	FCN3	8547	HP:0002783	Recurrent lower respiratory tract infections
OMIM:613860	FCN3	8547	HP:0002721	Immunodeficiency
OMIM:616038	PSAT1	29968	HP:0003577	Congenital onset
OMIM:616038	PSAT1	29968	HP:0000470	Short neck
OMIM:616038	PSAT1	29968	HP:0000377	Abnormality of the pinna
OMIM:616038	PSAT1	29968	HP:0000347	Micrognathia
OMIM:616038	PSAT1	29968	HP:0008064	Ichthyosis
OMIM:616038	PSAT1	29968	HP:0000369	Low-set ears
OMIM:616038	PSAT1	29968	HP:0000457	Depressed nasal ridge
OMIM:616038	PSAT1	29968	HP:0000007	Autosomal recessive inheritance
OMIM:616038	PSAT1	29968	HP:0000252	Microcephaly
OMIM:616038	PSAT1	29968	HP:0001511	Intrauterine growth retardation
OMIM:616038	PSAT1	29968	HP:0002650	Scoliosis
OMIM:616038	PSAT1	29968	HP:0000175	Cleft palate
OMIM:616038	PSAT1	29968	HP:0000316	Hypertelorism
OMIM:616038	PSAT1	29968	HP:0000340	Sloping forehead
OMIM:616038	PSAT1	29968	HP:0001558	Decreased fetal movement
OMIM:616038	PSAT1	29968	HP:0000218	High palate
OMIM:616038	PSAT1	29968	HP:0001838	Rocker bottom foot
ORPHA:110	MKKS	8195	HP:0001249	Intellectual disability
ORPHA:110	MKKS	8195	HP:0000512	Abnormal electroretinogram
ORPHA:110	MKKS	8195	HP:0000580	Pigmentary retinopathy
ORPHA:110	MKKS	8195	HP:0000639	Nystagmus
ORPHA:110	MKKS	8195	HP:0001162	Postaxial hand polydactyly
ORPHA:110	MKKS	8195	HP:0000135	Hypogonadism
ORPHA:110	MKKS	8195	HP:0008724	Hypoplasia of the ovary
ORPHA:110	MKKS	8195	HP:0000822	Hypertension
ORPHA:110	MKKS	8195	HP:0008736	Hypoplasia of penis
ORPHA:110	MKKS	8195	HP:0004322	Short stature
ORPHA:110	MKKS	8195	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	MKKS	8195	HP:0001513	Obesity
ORPHA:110	NPHP1	4867	HP:0001249	Intellectual disability
ORPHA:110	NPHP1	4867	HP:0000512	Abnormal electroretinogram
ORPHA:110	NPHP1	4867	HP:0000580	Pigmentary retinopathy
ORPHA:110	NPHP1	4867	HP:0000639	Nystagmus
ORPHA:110	NPHP1	4867	HP:0001162	Postaxial hand polydactyly
ORPHA:110	NPHP1	4867	HP:0000135	Hypogonadism
ORPHA:110	NPHP1	4867	HP:0008724	Hypoplasia of the ovary
ORPHA:110	NPHP1	4867	HP:0000822	Hypertension
ORPHA:110	NPHP1	4867	HP:0008736	Hypoplasia of penis
ORPHA:110	NPHP1	4867	HP:0004322	Short stature
ORPHA:110	NPHP1	4867	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	NPHP1	4867	HP:0001513	Obesity
ORPHA:110	BBIP1	92482	HP:0001249	Intellectual disability
ORPHA:110	BBIP1	92482	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBIP1	92482	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBIP1	92482	HP:0000639	Nystagmus
ORPHA:110	BBIP1	92482	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBIP1	92482	HP:0000135	Hypogonadism
ORPHA:110	BBIP1	92482	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBIP1	92482	HP:0000822	Hypertension
ORPHA:110	BBIP1	92482	HP:0008736	Hypoplasia of penis
ORPHA:110	BBIP1	92482	HP:0004322	Short stature
ORPHA:110	BBIP1	92482	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBIP1	92482	HP:0001513	Obesity
ORPHA:110	ARL6	84100	HP:0001249	Intellectual disability
ORPHA:110	ARL6	84100	HP:0000512	Abnormal electroretinogram
ORPHA:110	ARL6	84100	HP:0000580	Pigmentary retinopathy
ORPHA:110	ARL6	84100	HP:0000639	Nystagmus
ORPHA:110	ARL6	84100	HP:0001162	Postaxial hand polydactyly
ORPHA:110	ARL6	84100	HP:0000135	Hypogonadism
ORPHA:110	ARL6	84100	HP:0008724	Hypoplasia of the ovary
ORPHA:110	ARL6	84100	HP:0000822	Hypertension
ORPHA:110	ARL6	84100	HP:0008736	Hypoplasia of penis
ORPHA:110	ARL6	84100	HP:0004322	Short stature
ORPHA:110	ARL6	84100	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	ARL6	84100	HP:0001513	Obesity
ORPHA:110	BBS1	582	HP:0001249	Intellectual disability
ORPHA:110	BBS1	582	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS1	582	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS1	582	HP:0000639	Nystagmus
ORPHA:110	BBS1	582	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS1	582	HP:0000135	Hypogonadism
ORPHA:110	BBS1	582	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS1	582	HP:0000822	Hypertension
ORPHA:110	BBS1	582	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS1	582	HP:0004322	Short stature
ORPHA:110	BBS1	582	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS1	582	HP:0001513	Obesity
ORPHA:110	BBS2	583	HP:0001249	Intellectual disability
ORPHA:110	BBS2	583	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS2	583	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS2	583	HP:0000639	Nystagmus
ORPHA:110	BBS2	583	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS2	583	HP:0000135	Hypogonadism
ORPHA:110	BBS2	583	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS2	583	HP:0000822	Hypertension
ORPHA:110	BBS2	583	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS2	583	HP:0004322	Short stature
ORPHA:110	BBS2	583	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS2	583	HP:0001513	Obesity
ORPHA:110	BBS4	585	HP:0001249	Intellectual disability
ORPHA:110	BBS4	585	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS4	585	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS4	585	HP:0000639	Nystagmus
ORPHA:110	BBS4	585	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS4	585	HP:0000135	Hypogonadism
ORPHA:110	BBS4	585	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS4	585	HP:0000822	Hypertension
ORPHA:110	BBS4	585	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS4	585	HP:0004322	Short stature
ORPHA:110	BBS4	585	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS4	585	HP:0001513	Obesity
ORPHA:110	BBS9	27241	HP:0001249	Intellectual disability
ORPHA:110	BBS9	27241	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS9	27241	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS9	27241	HP:0000639	Nystagmus
ORPHA:110	BBS9	27241	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS9	27241	HP:0000135	Hypogonadism
ORPHA:110	BBS9	27241	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS9	27241	HP:0000822	Hypertension
ORPHA:110	BBS9	27241	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS9	27241	HP:0004322	Short stature
ORPHA:110	BBS9	27241	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS9	27241	HP:0001513	Obesity
ORPHA:110	TTC8	123016	HP:0001249	Intellectual disability
ORPHA:110	TTC8	123016	HP:0000512	Abnormal electroretinogram
ORPHA:110	TTC8	123016	HP:0000580	Pigmentary retinopathy
ORPHA:110	TTC8	123016	HP:0000639	Nystagmus
ORPHA:110	TTC8	123016	HP:0001162	Postaxial hand polydactyly
ORPHA:110	TTC8	123016	HP:0000135	Hypogonadism
ORPHA:110	TTC8	123016	HP:0008724	Hypoplasia of the ovary
ORPHA:110	TTC8	123016	HP:0000822	Hypertension
ORPHA:110	TTC8	123016	HP:0008736	Hypoplasia of penis
ORPHA:110	TTC8	123016	HP:0004322	Short stature
ORPHA:110	TTC8	123016	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	TTC8	123016	HP:0001513	Obesity
ORPHA:110	BBS12	166379	HP:0001249	Intellectual disability
ORPHA:110	BBS12	166379	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS12	166379	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS12	166379	HP:0000639	Nystagmus
ORPHA:110	BBS12	166379	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS12	166379	HP:0000135	Hypogonadism
ORPHA:110	BBS12	166379	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS12	166379	HP:0000822	Hypertension
ORPHA:110	BBS12	166379	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS12	166379	HP:0004322	Short stature
ORPHA:110	BBS12	166379	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS12	166379	HP:0001513	Obesity
ORPHA:110	TRIM32	22954	HP:0001249	Intellectual disability
ORPHA:110	TRIM32	22954	HP:0000512	Abnormal electroretinogram
ORPHA:110	TRIM32	22954	HP:0000580	Pigmentary retinopathy
ORPHA:110	TRIM32	22954	HP:0000639	Nystagmus
ORPHA:110	TRIM32	22954	HP:0001162	Postaxial hand polydactyly
ORPHA:110	TRIM32	22954	HP:0000135	Hypogonadism
ORPHA:110	TRIM32	22954	HP:0008724	Hypoplasia of the ovary
ORPHA:110	TRIM32	22954	HP:0000822	Hypertension
ORPHA:110	TRIM32	22954	HP:0008736	Hypoplasia of penis
ORPHA:110	TRIM32	22954	HP:0004322	Short stature
ORPHA:110	TRIM32	22954	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	TRIM32	22954	HP:0001513	Obesity
ORPHA:110	BBS7	55212	HP:0001249	Intellectual disability
ORPHA:110	BBS7	55212	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS7	55212	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS7	55212	HP:0000639	Nystagmus
ORPHA:110	BBS7	55212	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS7	55212	HP:0000135	Hypogonadism
ORPHA:110	BBS7	55212	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS7	55212	HP:0000822	Hypertension
ORPHA:110	BBS7	55212	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS7	55212	HP:0004322	Short stature
ORPHA:110	BBS7	55212	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS7	55212	HP:0001513	Obesity
ORPHA:110	IFT27	11020	HP:0001249	Intellectual disability
ORPHA:110	IFT27	11020	HP:0000512	Abnormal electroretinogram
ORPHA:110	IFT27	11020	HP:0000580	Pigmentary retinopathy
ORPHA:110	IFT27	11020	HP:0000639	Nystagmus
ORPHA:110	IFT27	11020	HP:0001162	Postaxial hand polydactyly
ORPHA:110	IFT27	11020	HP:0000135	Hypogonadism
ORPHA:110	IFT27	11020	HP:0008724	Hypoplasia of the ovary
ORPHA:110	IFT27	11020	HP:0000822	Hypertension
ORPHA:110	IFT27	11020	HP:0008736	Hypoplasia of penis
ORPHA:110	IFT27	11020	HP:0004322	Short stature
ORPHA:110	IFT27	11020	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	IFT27	11020	HP:0001513	Obesity
ORPHA:110	IFT172	26160	HP:0001249	Intellectual disability
ORPHA:110	IFT172	26160	HP:0000512	Abnormal electroretinogram
ORPHA:110	IFT172	26160	HP:0000580	Pigmentary retinopathy
ORPHA:110	IFT172	26160	HP:0000639	Nystagmus
ORPHA:110	IFT172	26160	HP:0001162	Postaxial hand polydactyly
ORPHA:110	IFT172	26160	HP:0000135	Hypogonadism
ORPHA:110	IFT172	26160	HP:0008724	Hypoplasia of the ovary
ORPHA:110	IFT172	26160	HP:0000822	Hypertension
ORPHA:110	IFT172	26160	HP:0008736	Hypoplasia of penis
ORPHA:110	IFT172	26160	HP:0004322	Short stature
ORPHA:110	IFT172	26160	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	IFT172	26160	HP:0001513	Obesity
ORPHA:110	WDPCP	51057	HP:0001249	Intellectual disability
ORPHA:110	WDPCP	51057	HP:0000512	Abnormal electroretinogram
ORPHA:110	WDPCP	51057	HP:0000580	Pigmentary retinopathy
ORPHA:110	WDPCP	51057	HP:0000639	Nystagmus
ORPHA:110	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
ORPHA:110	WDPCP	51057	HP:0000135	Hypogonadism
ORPHA:110	WDPCP	51057	HP:0008724	Hypoplasia of the ovary
ORPHA:110	WDPCP	51057	HP:0000822	Hypertension
ORPHA:110	WDPCP	51057	HP:0008736	Hypoplasia of penis
ORPHA:110	WDPCP	51057	HP:0004322	Short stature
ORPHA:110	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	WDPCP	51057	HP:0001513	Obesity
ORPHA:110	SDCCAG8	10806	HP:0001249	Intellectual disability
ORPHA:110	SDCCAG8	10806	HP:0000512	Abnormal electroretinogram
ORPHA:110	SDCCAG8	10806	HP:0000580	Pigmentary retinopathy
ORPHA:110	SDCCAG8	10806	HP:0000639	Nystagmus
ORPHA:110	SDCCAG8	10806	HP:0001162	Postaxial hand polydactyly
ORPHA:110	SDCCAG8	10806	HP:0000135	Hypogonadism
ORPHA:110	SDCCAG8	10806	HP:0008724	Hypoplasia of the ovary
ORPHA:110	SDCCAG8	10806	HP:0000822	Hypertension
ORPHA:110	SDCCAG8	10806	HP:0008736	Hypoplasia of penis
ORPHA:110	SDCCAG8	10806	HP:0004322	Short stature
ORPHA:110	SDCCAG8	10806	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	SDCCAG8	10806	HP:0001513	Obesity
ORPHA:110	MKS1	54903	HP:0001249	Intellectual disability
ORPHA:110	MKS1	54903	HP:0000512	Abnormal electroretinogram
ORPHA:110	MKS1	54903	HP:0000580	Pigmentary retinopathy
ORPHA:110	MKS1	54903	HP:0000639	Nystagmus
ORPHA:110	MKS1	54903	HP:0001162	Postaxial hand polydactyly
ORPHA:110	MKS1	54903	HP:0000135	Hypogonadism
ORPHA:110	MKS1	54903	HP:0008724	Hypoplasia of the ovary
ORPHA:110	MKS1	54903	HP:0000822	Hypertension
ORPHA:110	MKS1	54903	HP:0008736	Hypoplasia of penis
ORPHA:110	MKS1	54903	HP:0004322	Short stature
ORPHA:110	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	MKS1	54903	HP:0001513	Obesity
ORPHA:110	BBS5	129880	HP:0001249	Intellectual disability
ORPHA:110	BBS5	129880	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS5	129880	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS5	129880	HP:0000639	Nystagmus
ORPHA:110	BBS5	129880	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS5	129880	HP:0000135	Hypogonadism
ORPHA:110	BBS5	129880	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS5	129880	HP:0000822	Hypertension
ORPHA:110	BBS5	129880	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS5	129880	HP:0004322	Short stature
ORPHA:110	BBS5	129880	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS5	129880	HP:0001513	Obesity
ORPHA:110	CEP290	80184	HP:0001249	Intellectual disability
ORPHA:110	CEP290	80184	HP:0000512	Abnormal electroretinogram
ORPHA:110	CEP290	80184	HP:0000580	Pigmentary retinopathy
ORPHA:110	CEP290	80184	HP:0000639	Nystagmus
ORPHA:110	CEP290	80184	HP:0001162	Postaxial hand polydactyly
ORPHA:110	CEP290	80184	HP:0000135	Hypogonadism
ORPHA:110	CEP290	80184	HP:0008724	Hypoplasia of the ovary
ORPHA:110	CEP290	80184	HP:0000822	Hypertension
ORPHA:110	CEP290	80184	HP:0008736	Hypoplasia of penis
ORPHA:110	CEP290	80184	HP:0004322	Short stature
ORPHA:110	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	CEP290	80184	HP:0001513	Obesity
ORPHA:110	LZTFL1	54585	HP:0001249	Intellectual disability
ORPHA:110	LZTFL1	54585	HP:0000512	Abnormal electroretinogram
ORPHA:110	LZTFL1	54585	HP:0000580	Pigmentary retinopathy
ORPHA:110	LZTFL1	54585	HP:0000639	Nystagmus
ORPHA:110	LZTFL1	54585	HP:0001162	Postaxial hand polydactyly
ORPHA:110	LZTFL1	54585	HP:0000135	Hypogonadism
ORPHA:110	LZTFL1	54585	HP:0008724	Hypoplasia of the ovary
ORPHA:110	LZTFL1	54585	HP:0000822	Hypertension
ORPHA:110	LZTFL1	54585	HP:0008736	Hypoplasia of penis
ORPHA:110	LZTFL1	54585	HP:0004322	Short stature
ORPHA:110	LZTFL1	54585	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	LZTFL1	54585	HP:0001513	Obesity
ORPHA:110	BBS10	79738	HP:0001249	Intellectual disability
ORPHA:110	BBS10	79738	HP:0000512	Abnormal electroretinogram
ORPHA:110	BBS10	79738	HP:0000580	Pigmentary retinopathy
ORPHA:110	BBS10	79738	HP:0000639	Nystagmus
ORPHA:110	BBS10	79738	HP:0001162	Postaxial hand polydactyly
ORPHA:110	BBS10	79738	HP:0000135	Hypogonadism
ORPHA:110	BBS10	79738	HP:0008724	Hypoplasia of the ovary
ORPHA:110	BBS10	79738	HP:0000822	Hypertension
ORPHA:110	BBS10	79738	HP:0008736	Hypoplasia of penis
ORPHA:110	BBS10	79738	HP:0004322	Short stature
ORPHA:110	BBS10	79738	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	BBS10	79738	HP:0001513	Obesity
ORPHA:110	C8ORF37	157657	HP:0001249	Intellectual disability
ORPHA:110	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
ORPHA:110	C8ORF37	157657	HP:0000580	Pigmentary retinopathy
ORPHA:110	C8ORF37	157657	HP:0000639	Nystagmus
ORPHA:110	C8ORF37	157657	HP:0001162	Postaxial hand polydactyly
ORPHA:110	C8ORF37	157657	HP:0000135	Hypogonadism
ORPHA:110	C8ORF37	157657	HP:0008724	Hypoplasia of the ovary
ORPHA:110	C8ORF37	157657	HP:0000822	Hypertension
ORPHA:110	C8ORF37	157657	HP:0008736	Hypoplasia of penis
ORPHA:110	C8ORF37	157657	HP:0004322	Short stature
ORPHA:110	C8ORF37	157657	HP:0000003	Multicystic kidney dysplasia
ORPHA:110	C8ORF37	157657	HP:0001513	Obesity
ORPHA:369929	CACNA1D	776	HP:0100285	EMG: impaired neuromuscular transmission
ORPHA:369929	CACNA1D	776	HP:0001263	Global developmental delay
ORPHA:369929	CACNA1D	776	HP:0002900	Hypokalemia
ORPHA:369929	CACNA1D	776	HP:0000859	Hyperaldosteronism
ORPHA:369929	CACNA1D	776	HP:0001258	Spastic paraplegia
ORPHA:369929	CACNA1D	776	HP:0010864	Intellectual disability, severe
ORPHA:369929	CACNA1D	776	HP:0100021	Cerebral palsy
ORPHA:369929	CACNA1D	776	HP:0200114	Metabolic alkalosis
ORPHA:369929	CACNA1D	776	HP:0002305	Athetosis
ORPHA:369929	CACNA1D	776	HP:0011410	Caesarian section
ORPHA:369929	CACNA1D	776	HP:0011706	Second degree atrioventricular block
ORPHA:369929	CACNA1D	776	HP:0001714	Ventricular hypertrophy
ORPHA:369929	CACNA1D	776	HP:0040084	Abnormal circulating renin
ORPHA:369929	CACNA1D	776	HP:0100704	Cortical visual impairment
ORPHA:369929	CACNA1D	776	HP:0002069	Generalized tonic-clonic seizures
ORPHA:369929	CACNA1D	776	HP:0001959	Polydipsia
ORPHA:369929	CACNA1D	776	HP:0002092	Pulmonary arterial hypertension
ORPHA:369929	CACNA1D	776	HP:0002384	Focal seizures with impairment of consciousness or awareness
ORPHA:369929	CACNA1D	776	HP:0000822	Hypertension
ORPHA:369929	CACNA1D	776	HP:0011166	Focal myoclonic seizures
OMIM:612394	PLOD3	8985	HP:0000545	Myopia
OMIM:612394	PLOD3	8985	HP:0000938	Osteopenia
OMIM:612394	PLOD3	8985	HP:0000343	Long philtrum
OMIM:612394	PLOD3	8985	HP:0002164	Nail dysplasia
OMIM:612394	PLOD3	8985	HP:0000365	Hearing impairment
OMIM:612394	PLOD3	8985	HP:0003196	Short nose
OMIM:612394	PLOD3	8985	HP:0002208	Coarse hair
OMIM:612394	PLOD3	8985	HP:0012368	Flat face
OMIM:612394	PLOD3	8985	HP:0025019	Arterial rupture
OMIM:612394	PLOD3	8985	HP:0002650	Scoliosis
OMIM:612394	PLOD3	8985	HP:0009110	Diaphragmatic eventration
OMIM:612394	PLOD3	8985	HP:0000272	Malar flattening
OMIM:612394	PLOD3	8985	HP:0001511	Intrauterine growth retardation
OMIM:612394	PLOD3	8985	HP:0001762	Talipes equinovarus
OMIM:612394	PLOD3	8985	HP:0002714	Downturned corners of mouth
OMIM:612394	PLOD3	8985	HP:0000369	Low-set ears
OMIM:612394	PLOD3	8985	HP:0002987	Elbow flexion contracture
OMIM:612394	PLOD3	8985	HP:0000377	Abnormality of the pinna
OMIM:612394	PLOD3	8985	HP:0008897	Postnatal growth retardation
OMIM:612394	PLOD3	8985	HP:0000586	Shallow orbits
OMIM:612394	PLOD3	8985	HP:0000926	Platyspondyly
OMIM:612394	PLOD3	8985	HP:0000007	Autosomal recessive inheritance
OMIM:612394	PLOD3	8985	HP:0000518	Cataract
OMIM:612394	PLOD3	8985	HP:0004944	Dilatation of the cerebral artery
OMIM:612394	PLOD3	8985	HP:0000978	Bruising susceptibility
OMIM:612394	PLOD3	8985	HP:0002680	J-shaped sella turcica
OMIM:612394	PLOD3	8985	HP:0003393	Thenar muscle atrophy
OMIM:612394	PLOD3	8985	HP:0000463	Anteverted nares
OMIM:612394	PLOD3	8985	HP:0002756	Pathologic fracture
OMIM:612394	PLOD3	8985	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:612394	PLOD3	8985	HP:0001263	Global developmental delay
OMIM:612394	PLOD3	8985	HP:0006184	Decreased palmar creases
ORPHA:2026	ABCA5	23461	HP:0002353	EEG abnormality
ORPHA:2026	ABCA5	23461	HP:0000280	Coarse facial features
ORPHA:2026	ABCA5	23461	HP:0000169	Gingival fibromatosis
ORPHA:2026	ABCA5	23461	HP:0000212	Gingival overgrowth
ORPHA:2026	ABCA5	23461	HP:0002230	Generalized hirsutism
ORPHA:2026	ABCA5	23461	HP:0000684	Delayed eruption of teeth
OMIM:610006	ACADSB	36	HP:0000577	Exotropia
OMIM:610006	ACADSB	36	HP:0001270	Motor delay
OMIM:610006	ACADSB	36	HP:0003700	Generalized amyotrophy
OMIM:610006	ACADSB	36	HP:0002045	Hypothermia
OMIM:610006	ACADSB	36	HP:0001263	Global developmental delay
OMIM:610006	ACADSB	36	HP:0000252	Microcephaly
OMIM:610006	ACADSB	36	HP:0003593	Infantile onset
OMIM:610006	ACADSB	36	HP:0001254	Lethargy
OMIM:610006	ACADSB	36	HP:0001943	Hypoglycemia
OMIM:610006	ACADSB	36	HP:0005949	Apneic episodes in infancy
OMIM:610006	ACADSB	36	HP:0000007	Autosomal recessive inheritance
OMIM:610006	ACADSB	36	HP:0001250	Seizures
OMIM:610006	ACADSB	36	HP:0001290	Generalized hypotonia
OMIM:222748	DPYS	1807	HP:0001510	Growth delay
OMIM:222748	DPYS	1807	HP:0001999	Abnormal facial shape
OMIM:222748	DPYS	1807	HP:0001249	Intellectual disability
OMIM:222748	DPYS	1807	HP:0001262	Excessive daytime somnolence
OMIM:222748	DPYS	1807	HP:0000750	Delayed speech and language development
OMIM:222748	DPYS	1807	HP:0002023	Anal atresia
OMIM:222748	DPYS	1807	HP:0000007	Autosomal recessive inheritance
OMIM:222748	DPYS	1807	HP:0001250	Seizures
OMIM:222748	DPYS	1807	HP:0001762	Talipes equinovarus
OMIM:222748	DPYS	1807	HP:0002500	Abnormality of the cerebral white matter
OMIM:222748	DPYS	1807	HP:0001254	Lethargy
OMIM:222748	DPYS	1807	HP:0007308	Extrapyramidal dyskinesia
OMIM:222748	DPYS	1807	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:222748	DPYS	1807	HP:0001942	Metabolic acidosis
OMIM:222748	DPYS	1807	HP:0003654	Reduced dihydropyrimidine dehydrogenase activity
OMIM:222748	DPYS	1807	HP:0003812	Phenotypic variability
OMIM:222748	DPYS	1807	HP:0008872	Feeding difficulties in infancy
OMIM:222748	DPYS	1807	HP:0001357	Plagiocephaly
OMIM:222748	DPYS	1807	HP:0009803	Short phalanx of finger
OMIM:609821	P2RY12	64805	HP:0000007	Autosomal recessive inheritance
OMIM:609821	P2RY12	64805	HP:0000421	Epistaxis
OMIM:609821	P2RY12	64805	HP:0000978	Bruising susceptibility
OMIM:609821	P2RY12	64805	HP:0001934	Persistent bleeding after trauma
OMIM:609821	P2RY12	64805	HP:0004866	Impaired ADP-induced platelet aggregation
OMIM:609821	P2RY12	64805	HP:0004846	Prolonged bleeding after surgery
OMIM:609821	P2RX1	5023	HP:0000007	Autosomal recessive inheritance
OMIM:609821	P2RX1	5023	HP:0000421	Epistaxis
OMIM:609821	P2RX1	5023	HP:0000978	Bruising susceptibility
OMIM:609821	P2RX1	5023	HP:0001934	Persistent bleeding after trauma
OMIM:609821	P2RX1	5023	HP:0004866	Impaired ADP-induced platelet aggregation
OMIM:609821	P2RX1	5023	HP:0004846	Prolonged bleeding after surgery
OMIM:617102	IFT52	51098	HP:0000540	Hypermetropia
OMIM:617102	IFT52	51098	HP:0003180	Flat acetabular roof
OMIM:617102	IFT52	51098	HP:0001852	Sandal gap
OMIM:617102	IFT52	51098	HP:0009826	Limb undergrowth
OMIM:617102	IFT52	51098	HP:0000670	Carious teeth
OMIM:617102	IFT52	51098	HP:0004322	Short stature
OMIM:617102	IFT52	51098	HP:0010743	Short metatarsal
OMIM:617102	IFT52	51098	HP:0011800	Midface retrusion
OMIM:617102	IFT52	51098	HP:0000268	Dolichocephaly
OMIM:617102	IFT52	51098	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617102	IFT52	51098	HP:0009882	Short distal phalanx of finger
OMIM:617102	IFT52	51098	HP:0000293	Full cheeks
OMIM:617102	IFT52	51098	HP:0000369	Low-set ears
OMIM:617102	IFT52	51098	HP:0001270	Motor delay
OMIM:617102	IFT52	51098	HP:0000348	High forehead
OMIM:617102	IFT52	51098	HP:0000431	Wide nasal bridge
OMIM:617102	IFT52	51098	HP:0000506	Telecanthus
OMIM:617102	IFT52	51098	HP:0000007	Autosomal recessive inheritance
OMIM:617102	IFT52	51098	HP:0002098	Respiratory distress
OMIM:617102	IFT52	51098	HP:0005280	Depressed nasal bridge
OMIM:617102	IFT52	51098	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:617102	IFT52	51098	HP:0001156	Brachydactyly
OMIM:617102	IFT52	51098	HP:0010049	Short metacarpal
OMIM:101800	PRKAR1A	5573	HP:0000316	Hypertelorism
OMIM:101800	PRKAR1A	5573	HP:0000286	Epicanthus
OMIM:101800	PRKAR1A	5573	HP:0001530	Mild postnatal growth retardation
OMIM:101800	PRKAR1A	5573	HP:0000248	Brachycephaly
OMIM:101800	PRKAR1A	5573	HP:0010743	Short metatarsal
OMIM:101800	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
OMIM:101800	PRKAR1A	5573	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:101800	PRKAR1A	5573	HP:0000135	Hypogonadism
OMIM:101800	PRKAR1A	5573	HP:0005756	Neonatal epiphyseal stippling
OMIM:101800	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:101800	PRKAR1A	5573	HP:0000238	Hydrocephalus
OMIM:101800	PRKAR1A	5573	HP:0000995	Melanocytic nevus
OMIM:101800	PRKAR1A	5573	HP:0000303	Mandibular prognathia
OMIM:101800	PRKAR1A	5573	HP:0001169	Broad palm
OMIM:101800	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
OMIM:101800	PRKAR1A	5573	HP:0000635	Blue irides
OMIM:101800	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
OMIM:101800	PRKAR1A	5573	HP:0000858	Menstrual irregularities
OMIM:101800	PRKAR1A	5573	HP:0001847	Long hallux
OMIM:101800	PRKAR1A	5573	HP:0008873	Disproportionate short-limb short stature
OMIM:101800	PRKAR1A	5573	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:101800	PRKAR1A	5573	HP:0002650	Scoliosis
OMIM:101800	PRKAR1A	5573	HP:0000028	Cryptorchidism
OMIM:101800	PRKAR1A	5573	HP:0008450	Narrow vertebral interpedicular distance
OMIM:101800	PRKAR1A	5573	HP:0000327	Hypoplasia of the maxilla
OMIM:101800	PRKAR1A	5573	HP:0003083	Dislocated radial head
OMIM:101800	PRKAR1A	5573	HP:0001249	Intellectual disability
OMIM:101800	PRKAR1A	5573	HP:0009803	Short phalanx of finger
OMIM:101800	PRKAR1A	5573	HP:0000486	Strabismus
OMIM:101800	PRKAR1A	5573	HP:0000689	Dental malocclusion
OMIM:101800	PRKAR1A	5573	HP:0000684	Delayed eruption of teeth
OMIM:101800	PRKAR1A	5573	HP:0008479	Hypoplastic vertebral bodies
OMIM:101800	PRKAR1A	5573	HP:0000365	Hearing impairment
OMIM:101800	PRKAR1A	5573	HP:0000455	Broad nasal tip
OMIM:101800	PRKAR1A	5573	HP:0000648	Optic atrophy
OMIM:101800	PRKAR1A	5573	HP:0000463	Anteverted nares
OMIM:101800	PRKAR1A	5573	HP:0004279	Short palm
OMIM:101800	PRKAR1A	5573	HP:0004490	Calvarial hyperostosis
OMIM:101800	PRKAR1A	5573	HP:0000668	Hypodontia
OMIM:101800	PRKAR1A	5573	HP:0010049	Short metacarpal
ORPHA:1328	TGFB1	7040	HP:0003202	Skeletal muscle atrophy
ORPHA:1328	TGFB1	7040	HP:0100255	Metaphyseal dysplasia
ORPHA:1328	TGFB1	7040	HP:0012544	Elevated aldolase level
ORPHA:1328	TGFB1	7040	HP:0100774	Hyperostosis
ORPHA:1328	TGFB1	7040	HP:0002997	Abnormality of the ulna
ORPHA:1328	TGFB1	7040	HP:0002653	Bone pain
ORPHA:1328	TGFB1	7040	HP:0002515	Waddling gait
ORPHA:1328	TGFB1	7040	HP:0002992	Abnormality of tibia morphology
ORPHA:1328	TGFB1	7040	HP:0004326	Cachexia
ORPHA:1328	TGFB1	7040	HP:0003063	Abnormality of the humerus
ORPHA:1328	TGFB1	7040	HP:0005464	Craniofacial osteosclerosis
ORPHA:1328	TGFB1	7040	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1328	TGFB1	7040	HP:0005791	Cortical thickening of long bone diaphyses
ORPHA:1328	TGFB1	7040	HP:0001376	Limitation of joint mobility
OMIM:610489	PRKAR1A	5573	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
OMIM:610489	PRKAR1A	5573	HP:0001579	Primary hypercorticolism
OMIM:610489	PRKAR1A	5573	HP:0000939	Osteoporosis
OMIM:610489	PRKAR1A	5573	HP:0002808	Kyphosis
OMIM:610489	PRKAR1A	5573	HP:0001268	Mental deterioration
OMIM:610489	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:610489	PRKAR1A	5573	HP:0000822	Hypertension
OMIM:610489	PRKAR1A	5573	HP:0001956	Truncal obesity
OMIM:610489	PRKAR1A	5573	HP:0000709	Psychosis
OMIM:610489	PRKAR1A	5573	HP:0000716	Depressivity
OMIM:610489	PRKAR1A	5573	HP:0002920	Decreased circulating ACTH level
OMIM:610489	PRKAR1A	5573	HP:0001580	Pigmented micronodular adrenocortical disease
OMIM:610489	PRKAR1A	5573	HP:0003674	Onset
OMIM:610489	PRKAR1A	5573	HP:0000938	Osteopenia
OMIM:610489	PRKAR1A	5573	HP:0000978	Bruising susceptibility
OMIM:610489	PRKAR1A	5573	HP:0001065	Striae distensae
OMIM:610489	PRKAR1A	5573	HP:0000739	Anxiety
OMIM:610489	PRKAR1A	5573	HP:0000311	Round face
OMIM:610489	PRKAR1A	5573	HP:0000963	Thin skin
OMIM:610489	PRKAR1A	5573	HP:0001575	Mood changes
OMIM:610489	PRKAR1A	5573	HP:0000713	Agitation
OMIM:611022	RDX	5962	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	RDX	5962	HP:0003593	Infantile onset
OMIM:611022	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608808	MED13L	23389	HP:0003829	Incomplete penetrance
OMIM:608808	MED13L	23389	HP:0001669	Transposition of the great arteries
OMIM:608808	MED13L	23389	HP:0000006	Autosomal dominant inheritance
OMIM:613177	LTBP4	8425	HP:0002035	Rectal prolapse
OMIM:613177	LTBP4	8425	HP:0002021	Pyloric stenosis
OMIM:613177	LTBP4	8425	HP:0002779	Tracheomalacia
OMIM:613177	LTBP4	8425	HP:0000316	Hypertelorism
OMIM:613177	LTBP4	8425	HP:0000007	Autosomal recessive inheritance
OMIM:613177	LTBP4	8425	HP:0001601	Laryngomalacia
OMIM:613177	LTBP4	8425	HP:0011800	Midface retrusion
OMIM:613177	LTBP4	8425	HP:0100539	Periorbital edema
OMIM:613177	LTBP4	8425	HP:0000431	Wide nasal bridge
OMIM:613177	LTBP4	8425	HP:0004415	Pulmonary artery stenosis
OMIM:613177	LTBP4	8425	HP:0000343	Long philtrum
OMIM:613177	LTBP4	8425	HP:0000340	Sloping forehead
OMIM:613177	LTBP4	8425	HP:0000023	Inguinal hernia
OMIM:613177	LTBP4	8425	HP:0001655	Patent foramen ovale
OMIM:613177	LTBP4	8425	HP:0002097	Emphysema
OMIM:613177	LTBP4	8425	HP:0000278	Retrognathia
OMIM:613177	LTBP4	8425	HP:0000973	Cutis laxa
OMIM:613177	LTBP4	8425	HP:0001537	Umbilical hernia
OMIM:613177	LTBP4	8425	HP:0001852	Sandal gap
OMIM:613177	LTBP4	8425	HP:0002089	Pulmonary hypoplasia
OMIM:613177	LTBP4	8425	HP:0001290	Generalized hypotonia
OMIM:613177	LTBP4	8425	HP:0000347	Micrognathia
OMIM:613177	LTBP4	8425	HP:0000126	Hydronephrosis
OMIM:613177	LTBP4	8425	HP:0002020	Gastroesophageal reflux
OMIM:613177	LTBP4	8425	HP:0000015	Bladder diverticulum
OMIM:613177	LTBP4	8425	HP:0002780	Bronchomalacia
OMIM:613177	LTBP4	8425	HP:0000272	Malar flattening
OMIM:613177	LTBP4	8425	HP:0001388	Joint laxity
OMIM:616680	MAG	4099	HP:0003487	Babinski sign
OMIM:616680	MAG	4099	HP:0002600	Hyporeflexia of lower limbs
OMIM:616680	MAG	4099	HP:0007663	Reduced visual acuity
OMIM:616680	MAG	4099	HP:0002522	Areflexia of lower limbs
OMIM:616680	MAG	4099	HP:0100543	Cognitive impairment
OMIM:616680	MAG	4099	HP:0000007	Autosomal recessive inheritance
OMIM:616680	MAG	4099	HP:0001272	Cerebellar atrophy
OMIM:616680	MAG	4099	HP:0001263	Global developmental delay
OMIM:616680	MAG	4099	HP:0000648	Optic atrophy
OMIM:616680	MAG	4099	HP:0000483	Astigmatism
OMIM:616680	MAG	4099	HP:0000540	Hypermetropia
OMIM:616680	MAG	4099	HP:0001310	Dysmetria
OMIM:616680	MAG	4099	HP:0001319	Neonatal hypotonia
OMIM:616680	MAG	4099	HP:0003677	Slow progression
OMIM:616680	MAG	4099	HP:0002313	Spastic paraparesis
OMIM:616680	MAG	4099	HP:0002464	Spastic dysarthria
OMIM:616680	MAG	4099	HP:0009830	Peripheral neuropathy
OMIM:616680	MAG	4099	HP:0000639	Nystagmus
OMIM:616680	MAG	4099	HP:0007371	Corpus callosum atrophy
OMIM:174200	GLI3	2737	HP:0100258	Preaxial polydactyly
OMIM:174200	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:174200	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:614209	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614209	B9D1	27077	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	B9D1	27077	HP:0001762	Talipes equinovarus
OMIM:614209	B9D1	27077	HP:0000062	Ambiguous genitalia
OMIM:614209	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:614209	B9D1	27077	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	B9D1	27077	HP:0009826	Limb undergrowth
ORPHA:868	TPI1	7167	HP:0003202	Skeletal muscle atrophy
ORPHA:868	TPI1	7167	HP:0006597	Diaphragmatic paralysis
ORPHA:868	TPI1	7167	HP:0001252	Muscular hypotonia
ORPHA:868	TPI1	7167	HP:0007009	Central nervous system degeneration
ORPHA:868	TPI1	7167	HP:0010978	Abnormality of immune system physiology
OMIM:615092	MIB1	57534	HP:0030682	Left ventricular noncompaction
OMIM:615092	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:615092	MIB1	57534	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:616546	KIAA0586	9786	HP:0000776	Congenital diaphragmatic hernia
OMIM:616546	KIAA0586	9786	HP:0000175	Cleft palate
OMIM:616546	KIAA0586	9786	HP:0100258	Preaxial polydactyly
OMIM:616546	KIAA0586	9786	HP:0006660	Aplastic clavicles
OMIM:616546	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:616546	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616546	KIAA0586	9786	HP:0002126	Polymicrogyria
OMIM:616546	KIAA0586	9786	HP:0000238	Hydrocephalus
OMIM:616546	KIAA0586	9786	HP:0001290	Generalized hypotonia
OMIM:616546	KIAA0586	9786	HP:0001631	Atrial septal defect
OMIM:616546	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:616546	KIAA0586	9786	HP:0100259	Postaxial polydactyly
OMIM:616546	KIAA0586	9786	HP:0000054	Micropenis
OMIM:616546	KIAA0586	9786	HP:0000369	Low-set ears
OMIM:616546	KIAA0586	9786	HP:0002323	Anencephaly
OMIM:616546	KIAA0586	9786	HP:0000377	Abnormality of the pinna
OMIM:616546	KIAA0586	9786	HP:0000480	Retinal coloboma
OMIM:616546	KIAA0586	9786	HP:0002983	Micromelia
OMIM:616546	KIAA0586	9786	HP:0001265	Hyporeflexia
OMIM:616546	KIAA0586	9786	HP:0002089	Pulmonary hypoplasia
OMIM:616546	KIAA0586	9786	HP:0005280	Depressed nasal bridge
OMIM:616546	KIAA0586	9786	HP:0000774	Narrow chest
OMIM:616546	KIAA0586	9786	HP:0000773	Short ribs
OMIM:616546	KIAA0586	9786	HP:0001561	Polyhydramnios
OMIM:616546	KIAA0586	9786	HP:0000470	Short neck
OMIM:612933	LDHA	3939	HP:0003542	Increased serum pyruvate
OMIM:612933	LDHA	3939	HP:0002063	Rigidity
OMIM:612933	LDHA	3939	HP:0003552	Muscle stiffness
OMIM:612933	LDHA	3939	HP:0003394	Muscle cramps
OMIM:612933	LDHA	3939	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612933	LDHA	3939	HP:0003326	Myalgia
OMIM:612933	LDHA	3939	HP:0003546	Exercise intolerance
OMIM:612933	LDHA	3939	HP:0000007	Autosomal recessive inheritance
OMIM:612933	LDHA	3939	HP:0003201	Rhabdomyolysis
OMIM:612933	LDHA	3939	HP:0000083	Renal insufficiency
OMIM:612933	LDHA	3939	HP:0003621	Juvenile onset
OMIM:612933	LDHA	3939	HP:0002913	Myoglobinuria
OMIM:612933	LDHA	3939	HP:0002151	Increased serum lactate
OMIM:616549	MYO18B	84700	HP:0000007	Autosomal recessive inheritance
OMIM:616549	MYO18B	84700	HP:0000430	Underdeveloped nasal alae
OMIM:616549	MYO18B	84700	HP:0000252	Microcephaly
OMIM:616549	MYO18B	84700	HP:0000347	Micrognathia
OMIM:616549	MYO18B	84700	HP:0003198	Myopathy
OMIM:616549	MYO18B	84700	HP:0002949	Fused cervical vertebrae
OMIM:616549	MYO18B	84700	HP:0000232	Everted lower lip vermilion
OMIM:616549	MYO18B	84700	HP:0000508	Ptosis
OMIM:616549	MYO18B	84700	HP:0000343	Long philtrum
OMIM:616549	MYO18B	84700	HP:0002162	Low posterior hairline
OMIM:616549	MYO18B	84700	HP:0000219	Thin upper lip vermilion
OMIM:616549	MYO18B	84700	HP:0003502	Mild short stature
OMIM:616549	MYO18B	84700	HP:0000465	Webbed neck
OMIM:616549	MYO18B	84700	HP:0000369	Low-set ears
OMIM:616549	MYO18B	84700	HP:0000414	Bulbous nose
OMIM:616549	MYO18B	84700	HP:0000470	Short neck
OMIM:616549	MYO18B	84700	HP:0008807	Acetabular dysplasia
OMIM:616549	MYO18B	84700	HP:0002944	Thoracolumbar scoliosis
OMIM:236200	CBS	875	HP:0001733	Pancreatitis
OMIM:236200	CBS	875	HP:0001297	Stroke
OMIM:236200	CBS	875	HP:0000678	Dental crowding
OMIM:236200	CBS	875	HP:0002156	Homocystinuria
OMIM:236200	CBS	875	HP:0004586	Biconcave vertebral bodies
OMIM:236200	CBS	875	HP:0001249	Intellectual disability
OMIM:236200	CBS	875	HP:0001250	Seizures
OMIM:236200	CBS	875	HP:0001083	Ectopia lentis
OMIM:236200	CBS	875	HP:0000098	Tall stature
OMIM:236200	CBS	875	HP:0001634	Mitral valve prolapse
OMIM:236200	CBS	875	HP:0001010	Hypopigmentation of the skin
OMIM:236200	CBS	875	HP:0001907	Thromboembolism
OMIM:236200	CBS	875	HP:0000218	High palate
OMIM:236200	CBS	875	HP:0000501	Glaucoma
OMIM:236200	CBS	875	HP:0001376	Limitation of joint mobility
OMIM:236200	CBS	875	HP:0001397	Hepatic steatosis
OMIM:236200	CBS	875	HP:0000023	Inguinal hernia
OMIM:236200	CBS	875	HP:0001519	Disproportionate tall stature
OMIM:236200	CBS	875	HP:0012075	Personality disorder
OMIM:236200	CBS	875	HP:0000007	Autosomal recessive inheritance
OMIM:236200	CBS	875	HP:0002299	Brittle hair
OMIM:236200	CBS	875	HP:0001658	Myocardial infarction
OMIM:236200	CBS	875	HP:0002751	Kyphoscoliosis
OMIM:236200	CBS	875	HP:0000716	Depressivity
OMIM:236200	CBS	875	HP:0000767	Pectus excavatum
OMIM:236200	CBS	875	HP:0001166	Arachnodactyly
OMIM:236200	CBS	875	HP:0000545	Myopia
OMIM:236200	CBS	875	HP:0000965	Cutis marmorata
OMIM:236200	CBS	875	HP:0040160	Generalized osteoporosis
OMIM:236200	CBS	875	HP:0000768	Pectus carinatum
ORPHA:65684	C5ORF42	65250	HP:0007149	Distal upper limb amyotrophy
ORPHA:65684	C5ORF42	65250	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:65684	C5ORF42	65250	HP:0001324	Muscle weakness
ORPHA:65684	C5ORF42	65250	HP:0002398	Degeneration of anterior horn cells
ORPHA:65684	C5ORF42	65250	HP:0003457	EMG abnormality
ORPHA:65684	CEP126	57562	HP:0007149	Distal upper limb amyotrophy
ORPHA:65684	CEP126	57562	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:65684	CEP126	57562	HP:0001324	Muscle weakness
ORPHA:65684	CEP126	57562	HP:0002398	Degeneration of anterior horn cells
ORPHA:65684	CEP126	57562	HP:0003457	EMG abnormality
OMIM:614340	LINS1	55180	HP:0001290	Generalized hypotonia
OMIM:614340	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614340	LINS1	55180	HP:0005280	Depressed nasal bridge
OMIM:614340	LINS1	55180	HP:0002465	Poor speech
OMIM:614340	LINS1	55180	HP:0001263	Global developmental delay
OMIM:614340	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614340	LINS1	55180	HP:0011800	Midface retrusion
OMIM:614340	LINS1	55180	HP:0001347	Hyperreflexia
OMIM:614340	LINS1	55180	HP:0001510	Growth delay
OMIM:174050	PRKCSH	5589	HP:0006557	Polycystic liver disease
OMIM:174050	PRKCSH	5589	HP:0003270	Abdominal distention
OMIM:174050	PRKCSH	5589	HP:0000707	Abnormality of the nervous system
OMIM:174050	PRKCSH	5589	HP:0001541	Ascites
OMIM:174050	PRKCSH	5589	HP:0000107	Renal cyst
OMIM:174050	PRKCSH	5589	HP:0003573	Increased total bilirubin
OMIM:174050	PRKCSH	5589	HP:0003418	Back pain
OMIM:174050	PRKCSH	5589	HP:0000006	Autosomal dominant inheritance
OMIM:174050	PRKCSH	5589	HP:0001626	Abnormality of the cardiovascular system
OMIM:174050	SEC63	11231	HP:0006557	Polycystic liver disease
OMIM:174050	SEC63	11231	HP:0003270	Abdominal distention
OMIM:174050	SEC63	11231	HP:0000707	Abnormality of the nervous system
OMIM:174050	SEC63	11231	HP:0001541	Ascites
OMIM:174050	SEC63	11231	HP:0000107	Renal cyst
OMIM:174050	SEC63	11231	HP:0003573	Increased total bilirubin
OMIM:174050	SEC63	11231	HP:0003418	Back pain
OMIM:174050	SEC63	11231	HP:0000006	Autosomal dominant inheritance
OMIM:174050	SEC63	11231	HP:0001626	Abnormality of the cardiovascular system
OMIM:615222	RAB33B	83452	HP:0002857	Genu valgum
OMIM:615222	RAB33B	83452	HP:0008812	Flattened femoral head
OMIM:615222	RAB33B	83452	HP:0000926	Platyspondyly
OMIM:615222	RAB33B	83452	HP:0004325	Decreased body weight
OMIM:615222	RAB33B	83452	HP:0010049	Short metacarpal
OMIM:615222	RAB33B	83452	HP:0001763	Pes planus
OMIM:615222	RAB33B	83452	HP:0000768	Pectus carinatum
OMIM:615222	RAB33B	83452	HP:0009803	Short phalanx of finger
OMIM:615222	RAB33B	83452	HP:0000470	Short neck
OMIM:615222	RAB33B	83452	HP:0006429	Broad femoral neck
OMIM:615222	RAB33B	83452	HP:0010743	Short metatarsal
OMIM:615222	RAB33B	83452	HP:0003521	Disproportionate short-trunk short stature
OMIM:615222	RAB33B	83452	HP:0006009	Broad phalanx
OMIM:615222	RAB33B	83452	HP:0000007	Autosomal recessive inheritance
OMIM:615222	RAB33B	83452	HP:0003311	Hypoplasia of the odontoid process
OMIM:615222	RAB33B	83452	HP:0001552	Barrel-shaped chest
OMIM:610140	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:610140	LMNA	4000	HP:0030084	Clinodactyly
OMIM:610140	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:610140	LMNA	4000	HP:0001159	Syndactyly
OMIM:610140	LMNA	4000	HP:0001156	Brachydactyly
OMIM:610140	LMNA	4000	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:263570	GBE1	2632	HP:0003401	Paresthesia
OMIM:263570	GBE1	2632	HP:0000011	Neurogenic bladder
OMIM:263570	GBE1	2632	HP:0002936	Distal sensory impairment
OMIM:263570	GBE1	2632	HP:0100543	Cognitive impairment
OMIM:263570	GBE1	2632	HP:0003477	Peripheral axonal neuropathy
OMIM:263570	GBE1	2632	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:263570	GBE1	2632	HP:0002273	Tetraparesis
OMIM:263570	GBE1	2632	HP:0002500	Abnormality of the cerebral white matter
OMIM:263570	GBE1	2632	HP:0002127	Abnormal upper motor neuron morphology
OMIM:263570	GBE1	2632	HP:0001258	Spastic paraplegia
OMIM:263570	GBE1	2632	HP:0000007	Autosomal recessive inheritance
OMIM:263570	GBE1	2632	HP:0003581	Adult onset
OMIM:263570	GBE1	2632	HP:0001288	Gait disturbance
OMIM:263570	GBE1	2632	HP:0003677	Slow progression
ORPHA:53271	FGFR3	2261	HP:0002705	High, narrow palate
ORPHA:53271	FGFR3	2261	HP:0004279	Short palm
ORPHA:53271	FGFR3	2261	HP:0000508	Ptosis
ORPHA:53271	FGFR3	2261	HP:0001357	Plagiocephaly
ORPHA:53271	FGFR3	2261	HP:0002516	Increased intracranial pressure
ORPHA:53271	FGFR3	2261	HP:0000520	Proptosis
ORPHA:53271	FGFR3	2261	HP:0009702	Carpal synostosis
ORPHA:53271	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
ORPHA:53271	FGFR3	2261	HP:0004440	Coronal craniosynostosis
ORPHA:53271	FGFR3	2261	HP:0000316	Hypertelorism
ORPHA:53271	FGFR3	2261	HP:0001773	Short foot
ORPHA:53271	FGFR3	2261	HP:0000248	Brachycephaly
ORPHA:53271	FGFR3	2261	HP:0008368	Tarsal synostosis
ORPHA:53271	FGFR3	2261	HP:0000272	Malar flattening
ORPHA:53271	FGFR3	2261	HP:0010579	Cone-shaped epiphysis
OMIM:278250	ATP6V0A2	23545	HP:0001799	Short nail
OMIM:278250	ATP6V0A2	23545	HP:0003691	Scapular winging
OMIM:278250	ATP6V0A2	23545	HP:0000670	Carious teeth
OMIM:278250	ATP6V0A2	23545	HP:0007517	Palmoplantar cutis laxa
OMIM:278250	ATP6V0A2	23545	HP:0002650	Scoliosis
OMIM:278250	ATP6V0A2	23545	HP:0000270	Delayed cranial suture closure
OMIM:278250	ATP6V0A2	23545	HP:0000767	Pectus excavatum
OMIM:278250	ATP6V0A2	23545	HP:0001252	Muscular hypotonia
OMIM:278250	ATP6V0A2	23545	HP:0001788	Premature rupture of membranes
OMIM:278250	ATP6V0A2	23545	HP:0000286	Epicanthus
OMIM:278250	ATP6V0A2	23545	HP:0009004	Hypoplasia of the musculature
OMIM:278250	ATP6V0A2	23545	HP:0000369	Low-set ears
OMIM:278250	ATP6V0A2	23545	HP:0001537	Umbilical hernia
OMIM:278250	ATP6V0A2	23545	HP:0002808	Kyphosis
OMIM:278250	ATP6V0A2	23545	HP:0000431	Wide nasal bridge
OMIM:278250	ATP6V0A2	23545	HP:0001382	Joint hypermobility
OMIM:278250	ATP6V0A2	23545	HP:0001508	Failure to thrive
OMIM:278250	ATP6V0A2	23545	HP:0002645	Wormian bones
OMIM:278250	ATP6V0A2	23545	HP:0000253	Progressive microcephaly
OMIM:278250	ATP6V0A2	23545	HP:0001808	Fragile nails
OMIM:278250	ATP6V0A2	23545	HP:0006191	Deep palmar crease
OMIM:278250	ATP6V0A2	23545	HP:0008070	Sparse hair
OMIM:278250	ATP6V0A2	23545	HP:0000319	Smooth philtrum
OMIM:278250	ATP6V0A2	23545	HP:0011995	Atrial septal dilatation
OMIM:278250	ATP6V0A2	23545	HP:0000023	Inguinal hernia
OMIM:278250	ATP6V0A2	23545	HP:0000750	Delayed speech and language development
OMIM:278250	ATP6V0A2	23545	HP:0000028	Cryptorchidism
OMIM:278250	ATP6V0A2	23545	HP:0001869	Deep plantar creases
OMIM:278250	ATP6V0A2	23545	HP:0000316	Hypertelorism
OMIM:278250	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
OMIM:278250	ATP6V0A2	23545	HP:0000684	Delayed eruption of teeth
OMIM:278250	ATP6V0A2	23545	HP:0000691	Microdontia
OMIM:278250	ATP6V0A2	23545	HP:0001611	Nasal speech
OMIM:278250	ATP6V0A2	23545	HP:0000260	Wide anterior fontanel
OMIM:278250	ATP6V0A2	23545	HP:0003100	Slender long bone
OMIM:278250	ATP6V0A2	23545	HP:0004322	Short stature
OMIM:278250	ATP6V0A2	23545	HP:0000007	Autosomal recessive inheritance
OMIM:278250	ATP6V0A2	23545	HP:0007414	Neonatal wrinkled skin of hands and feet
OMIM:278250	ATP6V0A2	23545	HP:0001762	Talipes equinovarus
OMIM:278250	ATP6V0A2	23545	HP:0002812	Coxa vara
OMIM:278250	ATP6V0A2	23545	HP:0000343	Long philtrum
OMIM:278250	ATP6V0A2	23545	HP:0000218	High palate
OMIM:278250	ATP6V0A2	23545	HP:0000938	Osteopenia
OMIM:278250	ATP6V0A2	23545	HP:0003160	Abnormal isoelectric focusing of serum transferrin
OMIM:278250	ATP6V0A2	23545	HP:0001249	Intellectual disability
OMIM:278250	ATP6V0A2	23545	HP:0001763	Pes planus
OMIM:278250	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
OMIM:617006	ZAP70	7535	HP:0000093	Proteinuria
OMIM:617006	ZAP70	7535	HP:0000007	Autosomal recessive inheritance
OMIM:617006	ZAP70	7535	HP:0003593	Infantile onset
ORPHA:93600	HOGA1	112817	HP:0003159	Hyperoxaluria
ORPHA:93600	HOGA1	112817	HP:0000121	Nephrocalcinosis
ORPHA:93600	HOGA1	112817	HP:0100518	Dysuria
ORPHA:93600	HOGA1	112817	HP:0100515	Pollakisuria
ORPHA:93600	HOGA1	112817	HP:0000790	Hematuria
ORPHA:93600	HOGA1	112817	HP:0008672	Calcium oxalate nephrolithiasis
ORPHA:93600	HOGA1	112817	HP:0012531	Pain
OMIM:615191	LAMB1	3912	HP:0007260	Type II lissencephaly
OMIM:615191	LAMB1	3912	HP:0001250	Seizures
OMIM:615191	LAMB1	3912	HP:0001249	Intellectual disability
OMIM:615191	LAMB1	3912	HP:0001252	Muscular hypotonia
OMIM:615191	LAMB1	3912	HP:0002365	Hypoplasia of the brainstem
OMIM:615191	LAMB1	3912	HP:0011344	Severe global developmental delay
OMIM:615191	LAMB1	3912	HP:0001321	Cerebellar hypoplasia
OMIM:615191	LAMB1	3912	HP:0002281	Gray matter heterotopias
OMIM:615191	LAMB1	3912	HP:0002085	Occipital encephalocele
OMIM:615191	LAMB1	3912	HP:0000007	Autosomal recessive inheritance
OMIM:615191	LAMB1	3912	HP:0002132	Porencephalic cyst
OMIM:615191	LAMB1	3912	HP:0003828	Variable expressivity
OMIM:615191	LAMB1	3912	HP:0000256	Macrocephaly
OMIM:615191	LAMB1	3912	HP:0002500	Abnormality of the cerebral white matter
OMIM:615191	LAMB1	3912	HP:0001290	Generalized hypotonia
OMIM:615191	LAMB1	3912	HP:0000238	Hydrocephalus
OMIM:615191	LAMB1	3912	HP:0001258	Spastic paraplegia
OMIM:615191	LAMB1	3912	HP:0002352	Leukoencephalopathy
OMIM:615191	LAMB1	3912	HP:0003676	Progressive
ORPHA:163690	SLC3A1	6519	HP:0000508	Ptosis
ORPHA:163690	SLC3A1	6519	HP:0001558	Decreased fetal movement
ORPHA:163690	SLC3A1	6519	HP:0000286	Epicanthus
ORPHA:163690	SLC3A1	6519	HP:0003131	Cystinuria
ORPHA:163690	SLC3A1	6519	HP:0002007	Frontal bossing
ORPHA:163690	SLC3A1	6519	HP:0001510	Growth delay
ORPHA:163690	SLC3A1	6519	HP:0000787	Nephrolithiasis
ORPHA:163690	SLC3A1	6519	HP:0001611	Nasal speech
ORPHA:163690	SLC3A1	6519	HP:0001252	Muscular hypotonia
ORPHA:163690	SLC3A1	6519	HP:0002591	Polyphagia
ORPHA:163690	SLC3A1	6519	HP:0012378	Fatigue
ORPHA:163690	SLC3A1	6519	HP:0000268	Dolichocephaly
ORPHA:163690	SLC3A1	6519	HP:0001508	Failure to thrive
ORPHA:163690	SLC3A1	6519	HP:0000278	Retrognathia
ORPHA:163690	PREPL	9581	HP:0000508	Ptosis
ORPHA:163690	PREPL	9581	HP:0001558	Decreased fetal movement
ORPHA:163690	PREPL	9581	HP:0000286	Epicanthus
ORPHA:163690	PREPL	9581	HP:0003131	Cystinuria
ORPHA:163690	PREPL	9581	HP:0002007	Frontal bossing
ORPHA:163690	PREPL	9581	HP:0001510	Growth delay
ORPHA:163690	PREPL	9581	HP:0000787	Nephrolithiasis
ORPHA:163690	PREPL	9581	HP:0001611	Nasal speech
ORPHA:163690	PREPL	9581	HP:0001252	Muscular hypotonia
ORPHA:163690	PREPL	9581	HP:0002591	Polyphagia
ORPHA:163690	PREPL	9581	HP:0012378	Fatigue
ORPHA:163690	PREPL	9581	HP:0000268	Dolichocephaly
ORPHA:163690	PREPL	9581	HP:0001508	Failure to thrive
ORPHA:163690	PREPL	9581	HP:0000278	Retrognathia
ORPHA:575	NLRP3	114548	HP:0000112	Nephropathy
ORPHA:575	NLRP3	114548	HP:0001744	Splenomegaly
ORPHA:575	NLRP3	114548	HP:0001917	Renal amyloidosis
ORPHA:575	NLRP3	114548	HP:0000100	Nephrotic syndrome
ORPHA:575	NLRP3	114548	HP:0001025	Urticaria
ORPHA:575	NLRP3	114548	HP:0002240	Hepatomegaly
ORPHA:575	NLRP3	114548	HP:0000509	Conjunctivitis
ORPHA:575	NLRP3	114548	HP:0001769	Broad foot
ORPHA:575	NLRP3	114548	HP:0100534	Episcleritis
ORPHA:575	NLRP3	114548	HP:0000408	Progressive sensorineural hearing impairment
ORPHA:575	NLRP3	114548	HP:0000554	Uveitis
ORPHA:575	NLRP3	114548	HP:0000988	Skin rash
ORPHA:575	NLRP3	114548	HP:0002027	Abdominal pain
ORPHA:575	NLRP3	114548	HP:0002829	Arthralgia
ORPHA:575	NLRP3	114548	HP:0006824	Cranial nerve paralysis
ORPHA:575	NLRP3	114548	HP:0001369	Arthritis
ORPHA:575	NLRP3	114548	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:614190	PDE8B	8622	HP:0008221	Adrenal hyperplasia
OMIM:614190	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:614190	PDE8B	8622	HP:0003118	Increased circulating cortisol level
OMIM:617397	USP18	11274	HP:0000967	Petechiae
OMIM:617397	USP18	11274	HP:0002282	Heterotopia
OMIM:617397	USP18	11274	HP:0002240	Hepatomegaly
OMIM:617397	USP18	11274	HP:0001290	Generalized hypotonia
OMIM:617397	USP18	11274	HP:0003128	Lactic acidosis
OMIM:617397	USP18	11274	HP:0002514	Cerebral calcification
OMIM:617397	USP18	11274	HP:0001410	Decreased liver function
OMIM:617397	USP18	11274	HP:0002093	Respiratory insufficiency
OMIM:617397	USP18	11274	HP:0001342	Cerebral hemorrhage
OMIM:617397	USP18	11274	HP:0001541	Ascites
OMIM:617397	USP18	11274	HP:0001662	Bradycardia
OMIM:617397	USP18	11274	HP:0000007	Autosomal recessive inheritance
OMIM:617397	USP18	11274	HP:0003577	Congenital onset
OMIM:617397	USP18	11274	HP:0001643	Patent ductus arteriosus
OMIM:617397	USP18	11274	HP:0002126	Polymicrogyria
OMIM:617397	USP18	11274	HP:0001321	Cerebellar hypoplasia
OMIM:617397	USP18	11274	HP:0002119	Ventriculomegaly
OMIM:617397	USP18	11274	HP:0001873	Thrombocytopenia
OMIM:617397	USP18	11274	HP:0000252	Microcephaly
OMIM:617397	USP18	11274	HP:0001254	Lethargy
ORPHA:79434	TYR	7299	HP:0000613	Photophobia
ORPHA:79434	TYR	7299	HP:0001480	Freckling
ORPHA:79434	TYR	7299	HP:0000505	Visual impairment
ORPHA:79434	TYR	7299	HP:0000587	Abnormality of the optic nerve
ORPHA:79434	TYR	7299	HP:0000639	Nystagmus
ORPHA:79434	TYR	7299	HP:0001022	Albinism
ORPHA:79434	TYR	7299	HP:0000486	Strabismus
ORPHA:79434	TYR	7299	HP:0007730	Iris hypopigmentation
ORPHA:79434	TYR	7299	HP:0000995	Melanocytic nevus
ORPHA:79434	TYR	7299	HP:0007750	Hypoplasia of the fovea
ORPHA:79434	TYR	7299	HP:0007703	Abnormality of retinal pigmentation
OMIM:616399	KCND3	3752	HP:0001962	Palpitations
OMIM:616399	KCND3	3752	HP:0000006	Autosomal dominant inheritance
ORPHA:51	SAMHD1	25939	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	SAMHD1	25939	HP:0001257	Spasticity
ORPHA:51	SAMHD1	25939	HP:0002187	Intellectual disability, profound
ORPHA:51	SAMHD1	25939	HP:0000625	Cleft eyelid
ORPHA:51	SAMHD1	25939	HP:0002132	Porencephalic cyst
ORPHA:51	SAMHD1	25939	HP:0002139	Arrhinencephaly
ORPHA:51	RNASEH2B	79621	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	RNASEH2B	79621	HP:0001257	Spasticity
ORPHA:51	RNASEH2B	79621	HP:0002187	Intellectual disability, profound
ORPHA:51	RNASEH2B	79621	HP:0000625	Cleft eyelid
ORPHA:51	RNASEH2B	79621	HP:0002132	Porencephalic cyst
ORPHA:51	RNASEH2B	79621	HP:0002139	Arrhinencephaly
ORPHA:51	RNASEH2A	10535	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	RNASEH2A	10535	HP:0001257	Spasticity
ORPHA:51	RNASEH2A	10535	HP:0002187	Intellectual disability, profound
ORPHA:51	RNASEH2A	10535	HP:0000625	Cleft eyelid
ORPHA:51	RNASEH2A	10535	HP:0002132	Porencephalic cyst
ORPHA:51	RNASEH2A	10535	HP:0002139	Arrhinencephaly
ORPHA:51	ADAR	103	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	ADAR	103	HP:0001257	Spasticity
ORPHA:51	ADAR	103	HP:0002187	Intellectual disability, profound
ORPHA:51	ADAR	103	HP:0000625	Cleft eyelid
ORPHA:51	ADAR	103	HP:0002132	Porencephalic cyst
ORPHA:51	ADAR	103	HP:0002139	Arrhinencephaly
ORPHA:51	IFIH1	64135	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	IFIH1	64135	HP:0001257	Spasticity
ORPHA:51	IFIH1	64135	HP:0002187	Intellectual disability, profound
ORPHA:51	IFIH1	64135	HP:0000625	Cleft eyelid
ORPHA:51	IFIH1	64135	HP:0002132	Porencephalic cyst
ORPHA:51	IFIH1	64135	HP:0002139	Arrhinencephaly
ORPHA:51	RNASEH2C	84153	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	RNASEH2C	84153	HP:0001257	Spasticity
ORPHA:51	RNASEH2C	84153	HP:0002187	Intellectual disability, profound
ORPHA:51	RNASEH2C	84153	HP:0000625	Cleft eyelid
ORPHA:51	RNASEH2C	84153	HP:0002132	Porencephalic cyst
ORPHA:51	RNASEH2C	84153	HP:0002139	Arrhinencephaly
ORPHA:51	TREX1	11277	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	TREX1	11277	HP:0001257	Spasticity
ORPHA:51	TREX1	11277	HP:0002187	Intellectual disability, profound
ORPHA:51	TREX1	11277	HP:0000625	Cleft eyelid
ORPHA:51	TREX1	11277	HP:0002132	Porencephalic cyst
ORPHA:51	TREX1	11277	HP:0002139	Arrhinencephaly
OMIM:617026	TSEN15	116461	HP:0003577	Congenital onset
OMIM:617026	TSEN15	116461	HP:0001290	Generalized hypotonia
OMIM:617026	TSEN15	116461	HP:0000253	Progressive microcephaly
OMIM:617026	TSEN15	116461	HP:0001249	Intellectual disability
OMIM:617026	TSEN15	116461	HP:0003828	Variable expressivity
OMIM:617026	TSEN15	116461	HP:0000007	Autosomal recessive inheritance
OMIM:606070	MATR3	9782	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	MATR3	9782	HP:0003828	Variable expressivity
OMIM:606070	MATR3	9782	HP:0002460	Distal muscle weakness
OMIM:606070	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	MATR3	9782	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	MATR3	9782	HP:0008756	Bowing of the vocal cords
OMIM:606070	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:606070	MATR3	9782	HP:0001347	Hyperreflexia
OMIM:606070	MATR3	9782	HP:0003581	Adult onset
OMIM:606070	MATR3	9782	HP:0001260	Dysarthria
OMIM:606070	MATR3	9782	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	MATR3	9782	HP:0002835	Aspiration
OMIM:606070	MATR3	9782	HP:0001283	Bulbar palsy
OMIM:606070	MATR3	9782	HP:0002015	Dysphagia
OMIM:606070	MATR3	9782	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	MATR3	9782	HP:0003805	Rimmed vacuoles
OMIM:606070	MATR3	9782	HP:0001609	Hoarse voice
OMIM:606070	MATR3	9782	HP:0002483	Bulbar signs
OMIM:606070	MATR3	9782	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	MATR3	9782	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	MATR3	9782	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:616645	SLC12A5	57468	HP:0007256	Abnormal pyramidal signs
OMIM:616645	SLC12A5	57468	HP:0003781	Excessive salivation
OMIM:616645	SLC12A5	57468	HP:0001249	Intellectual disability
OMIM:616645	SLC12A5	57468	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:616645	SLC12A5	57468	HP:0006813	Hemiclonic seizures
OMIM:616645	SLC12A5	57468	HP:0002059	Cerebral atrophy
OMIM:616645	SLC12A5	57468	HP:0002540	Inability to walk
OMIM:616645	SLC12A5	57468	HP:0003593	Infantile onset
OMIM:616645	SLC12A5	57468	HP:0002188	Delayed CNS myelination
OMIM:616645	SLC12A5	57468	HP:0002133	Status epilepticus
OMIM:616645	SLC12A5	57468	HP:0005484	Postnatal microcephaly
OMIM:616645	SLC12A5	57468	HP:0000007	Autosomal recessive inheritance
OMIM:616645	SLC12A5	57468	HP:0001263	Global developmental delay
OMIM:610954	TCF4	6925	HP:0001250	Seizures
OMIM:610954	TCF4	6925	HP:0002020	Gastroesophageal reflux
OMIM:610954	TCF4	6925	HP:0000483	Astigmatism
OMIM:610954	TCF4	6925	HP:0000954	Single transverse palmar crease
OMIM:610954	TCF4	6925	HP:0001290	Generalized hypotonia
OMIM:610954	TCF4	6925	HP:0000322	Short philtrum
OMIM:610954	TCF4	6925	HP:0006887	Intellectual disability, progressive
OMIM:610954	TCF4	6925	HP:0000028	Cryptorchidism
OMIM:610954	TCF4	6925	HP:0000687	Widely spaced teeth
OMIM:610954	TCF4	6925	HP:0000490	Deeply set eye
OMIM:610954	TCF4	6925	HP:0000718	Aggressive behavior
OMIM:610954	TCF4	6925	HP:0000252	Microcephaly
OMIM:610954	TCF4	6925	HP:0001763	Pes planus
OMIM:610954	TCF4	6925	HP:0000054	Micropenis
OMIM:610954	TCF4	6925	HP:0008081	Pes valgus
OMIM:610954	TCF4	6925	HP:0001298	Encephalopathy
OMIM:610954	TCF4	6925	HP:0002066	Gait ataxia
OMIM:610954	TCF4	6925	HP:0000341	Narrow forehead
OMIM:610954	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:610954	TCF4	6925	HP:0000545	Myopia
OMIM:610954	TCF4	6925	HP:0000431	Wide nasal bridge
OMIM:610954	TCF4	6925	HP:0001270	Motor delay
OMIM:610954	TCF4	6925	HP:0002459	Dysautonomia
OMIM:610954	TCF4	6925	HP:0001344	Absent speech
OMIM:610954	TCF4	6925	HP:0010864	Intellectual disability, severe
OMIM:610954	TCF4	6925	HP:0000470	Short neck
OMIM:610954	TCF4	6925	HP:0000582	Upslanted palpebral fissure
OMIM:610954	TCF4	6925	HP:0001786	Narrow foot
OMIM:610954	TCF4	6925	HP:0002311	Incoordination
OMIM:610954	TCF4	6925	HP:0000486	Strabismus
OMIM:610954	TCF4	6925	HP:0004879	Intermittent hyperventilation
OMIM:610954	TCF4	6925	HP:0000378	Cupped ear
OMIM:610954	TCF4	6925	HP:0000194	Open mouth
OMIM:610954	TCF4	6925	HP:0000280	Coarse facial features
OMIM:610954	TCF4	6925	HP:0001217	Clubbing
OMIM:610954	TCF4	6925	HP:0001182	Tapered finger
OMIM:610954	TCF4	6925	HP:0000293	Full cheeks
OMIM:610954	TCF4	6925	HP:0002019	Constipation
OMIM:610954	TCF4	6925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610954	TCF4	6925	HP:0030084	Clinodactyly
OMIM:601390	DCHS1	8642	HP:0030084	Clinodactyly
OMIM:601390	DCHS1	8642	HP:0000316	Hypertelorism
OMIM:601390	DCHS1	8642	HP:0010554	Cutaneous finger syndactyly
OMIM:601390	DCHS1	8642	HP:0000431	Wide nasal bridge
OMIM:601390	DCHS1	8642	HP:0000581	Blepharophimosis
OMIM:601390	DCHS1	8642	HP:0012745	Short palpebral fissure
OMIM:601390	DCHS1	8642	HP:0000894	Short clavicles
OMIM:601390	DCHS1	8642	HP:0002079	Hypoplasia of the corpus callosum
OMIM:601390	DCHS1	8642	HP:0001290	Generalized hypotonia
OMIM:601390	DCHS1	8642	HP:0000508	Ptosis
OMIM:601390	DCHS1	8642	HP:0000405	Conductive hearing impairment
OMIM:601390	DCHS1	8642	HP:0002652	Skeletal dysplasia
OMIM:601390	DCHS1	8642	HP:0002650	Scoliosis
OMIM:601390	DCHS1	8642	HP:0010804	Tented upper lip vermilion
OMIM:601390	DCHS1	8642	HP:0000347	Micrognathia
OMIM:601390	DCHS1	8642	HP:0000774	Narrow chest
OMIM:601390	DCHS1	8642	HP:0011968	Feeding difficulties
OMIM:601390	DCHS1	8642	HP:0000938	Osteopenia
OMIM:601390	DCHS1	8642	HP:0002714	Downturned corners of mouth
OMIM:601390	DCHS1	8642	HP:0000007	Autosomal recessive inheritance
OMIM:601390	DCHS1	8642	HP:0040079	Irregular dentition
OMIM:601390	DCHS1	8642	HP:0004689	Short fourth metatarsal
OMIM:601390	DCHS1	8642	HP:0000341	Narrow forehead
OMIM:601390	DCHS1	8642	HP:0010537	Wide cranial sutures
OMIM:601390	DCHS1	8642	HP:0000407	Sensorineural hearing impairment
OMIM:601390	DCHS1	8642	HP:0001388	Joint laxity
OMIM:601390	DCHS1	8642	HP:0002023	Anal atresia
OMIM:601390	DCHS1	8642	HP:0001510	Growth delay
OMIM:601390	DCHS1	8642	HP:0001762	Talipes equinovarus
OMIM:601390	DCHS1	8642	HP:0000286	Epicanthus
OMIM:601390	DCHS1	8642	HP:0003577	Congenital onset
OMIM:601390	DCHS1	8642	HP:0000272	Malar flattening
OMIM:601390	DCHS1	8642	HP:0001302	Pachygyria
OMIM:601390	DCHS1	8642	HP:0009879	Cortical gyral simplification
OMIM:601390	DCHS1	8642	HP:0000327	Hypoplasia of the maxilla
OMIM:601390	DCHS1	8642	HP:0001545	Anteriorly placed anus
OMIM:601390	DCHS1	8642	HP:0000260	Wide anterior fontanel
OMIM:601390	DCHS1	8642	HP:0008551	Microtia
OMIM:601390	DCHS1	8642	HP:0002779	Tracheomalacia
OMIM:601390	DCHS1	8642	HP:0000960	Sacral dimple
OMIM:601390	DCHS1	8642	HP:0000047	Hypospadias
OMIM:601390	DCHS1	8642	HP:0011800	Midface retrusion
OMIM:601390	DCHS1	8642	HP:0000413	Atresia of the external auditory canal
OMIM:601390	DCHS1	8642	HP:0000689	Dental malocclusion
OMIM:601390	DCHS1	8642	HP:0010044	Short 4th metacarpal
OMIM:601390	DCHS1	8642	HP:0000218	High palate
OMIM:601390	DCHS1	8642	HP:0000089	Renal hypoplasia
OMIM:601390	DCHS1	8642	HP:0001249	Intellectual disability
OMIM:265450	BMPR2	659	HP:0000006	Autosomal dominant inheritance
OMIM:265450	BMPR2	659	HP:0002092	Pulmonary arterial hypertension
OMIM:265450	BMPR2	659	HP:0006518	Pulmonary venous occlusion
OMIM:265450	BMPR2	659	HP:0030848	Elevated jugular venous pressure
ORPHA:90652	FLNA	2316	HP:0000494	Downslanted palpebral fissures
ORPHA:90652	FLNA	2316	HP:0001508	Failure to thrive
ORPHA:90652	FLNA	2316	HP:0100490	Camptodactyly of finger
ORPHA:90652	FLNA	2316	HP:0002652	Skeletal dysplasia
ORPHA:90652	FLNA	2316	HP:0000336	Prominent supraorbital ridges
ORPHA:90652	FLNA	2316	HP:0001163	Abnormality of the metacarpal bones
ORPHA:90652	FLNA	2316	HP:0000272	Malar flattening
ORPHA:90652	FLNA	2316	HP:0000175	Cleft palate
ORPHA:90652	FLNA	2316	HP:0000369	Low-set ears
ORPHA:90652	FLNA	2316	HP:0005280	Depressed nasal bridge
ORPHA:90652	FLNA	2316	HP:0000162	Glossoptosis
ORPHA:90652	FLNA	2316	HP:0000377	Abnormality of the pinna
ORPHA:90652	FLNA	2316	HP:0000677	Oligodontia
ORPHA:90652	FLNA	2316	HP:0000047	Hypospadias
ORPHA:90652	FLNA	2316	HP:0002990	Fibular aplasia
ORPHA:90652	FLNA	2316	HP:0000774	Narrow chest
ORPHA:90652	FLNA	2316	HP:0002738	Hypoplastic frontal sinuses
ORPHA:90652	FLNA	2316	HP:0003042	Elbow dislocation
ORPHA:90652	FLNA	2316	HP:0001671	Abnormality of the cardiac septa
ORPHA:90652	FLNA	2316	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:90652	FLNA	2316	HP:0002684	Thickened calvaria
ORPHA:90652	FLNA	2316	HP:0004279	Short palm
ORPHA:90652	FLNA	2316	HP:0000239	Large fontanelles
ORPHA:90652	FLNA	2316	HP:0001263	Global developmental delay
ORPHA:90652	FLNA	2316	HP:0000674	Anodontia
ORPHA:90652	FLNA	2316	HP:0000238	Hydrocephalus
ORPHA:90652	FLNA	2316	HP:0001654	Abnormality of the heart valves
ORPHA:90652	FLNA	2316	HP:0000126	Hydronephrosis
ORPHA:90652	FLNA	2316	HP:0002869	Flared iliac wings
ORPHA:90652	FLNA	2316	HP:0000347	Micrognathia
ORPHA:90652	FLNA	2316	HP:0006000	Ureteral obstruction
ORPHA:90652	FLNA	2316	HP:0002089	Pulmonary hypoplasia
ORPHA:90652	FLNA	2316	HP:0011001	Increased bone mineral density
ORPHA:90652	FLNA	2316	HP:0000772	Abnormality of the ribs
ORPHA:90652	FLNA	2316	HP:0001249	Intellectual disability
ORPHA:90652	FLNA	2316	HP:0009778	Short thumb
ORPHA:90652	FLNA	2316	HP:0010109	Short hallux
ORPHA:90652	FLNA	2316	HP:0000337	Broad forehead
ORPHA:90652	FLNA	2316	HP:0000160	Narrow mouth
ORPHA:90652	FLNA	2316	HP:0006487	Bowing of the long bones
ORPHA:90652	FLNA	2316	HP:0000201	Pierre-Robin sequence
ORPHA:90652	FLNA	2316	HP:0001321	Cerebellar hypoplasia
ORPHA:90652	FLNA	2316	HP:0003196	Short nose
ORPHA:90652	FLNA	2316	HP:0000316	Hypertelorism
ORPHA:90652	FLNA	2316	HP:0000365	Hearing impairment
ORPHA:90652	FLNA	2316	HP:0001539	Omphalocele
OMIM:614229	SYT14	255928	HP:0001263	Global developmental delay
OMIM:614229	SYT14	255928	HP:0000007	Autosomal recessive inheritance
OMIM:614229	SYT14	255928	HP:0001272	Cerebellar atrophy
OMIM:614229	SYT14	255928	HP:0002070	Limb ataxia
OMIM:614229	SYT14	255928	HP:0002078	Truncal ataxia
OMIM:614229	SYT14	255928	HP:0007772	Impaired smooth pursuit
OMIM:614229	SYT14	255928	HP:0001260	Dysarthria
OMIM:614229	SYT14	255928	HP:0003677	Slow progression
OMIM:616632	DIAPH1	1729	HP:0000252	Microcephaly
OMIM:616632	DIAPH1	1729	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616632	DIAPH1	1729	HP:0001250	Seizures
OMIM:616632	DIAPH1	1729	HP:0000007	Autosomal recessive inheritance
OMIM:616632	DIAPH1	1729	HP:0004322	Short stature
OMIM:616632	DIAPH1	1729	HP:0000648	Optic atrophy
OMIM:616632	DIAPH1	1729	HP:0002465	Poor speech
OMIM:616632	DIAPH1	1729	HP:0100704	Cortical visual impairment
OMIM:614727	TMEM165	55858	HP:0004322	Short stature
OMIM:614727	TMEM165	55858	HP:0100252	Diaphyseal dysplasia
OMIM:614727	TMEM165	55858	HP:0001324	Muscle weakness
OMIM:614727	TMEM165	55858	HP:0002910	Elevated hepatic transaminases
OMIM:614727	TMEM165	55858	HP:0000358	Posteriorly rotated ears
OMIM:614727	TMEM165	55858	HP:0001388	Joint laxity
OMIM:614727	TMEM165	55858	HP:0001508	Failure to thrive
OMIM:614727	TMEM165	55858	HP:0100255	Metaphyseal dysplasia
OMIM:614727	TMEM165	55858	HP:0000007	Autosomal recessive inheritance
OMIM:614727	TMEM165	55858	HP:0002240	Hepatomegaly
OMIM:614727	TMEM165	55858	HP:0002656	Epiphyseal dysplasia
OMIM:614727	TMEM165	55858	HP:0003812	Phenotypic variability
OMIM:614727	TMEM165	55858	HP:0002751	Kyphoscoliosis
OMIM:614727	TMEM165	55858	HP:0001263	Global developmental delay
OMIM:614727	TMEM165	55858	HP:0001873	Thrombocytopenia
OMIM:614727	TMEM165	55858	HP:0000939	Osteoporosis
OMIM:614727	TMEM165	55858	HP:0000369	Low-set ears
OMIM:614727	TMEM165	55858	HP:0002500	Abnormality of the cerebral white matter
OMIM:614727	TMEM165	55858	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614727	TMEM165	55858	HP:0005484	Postnatal microcephaly
OMIM:614727	TMEM165	55858	HP:0001290	Generalized hypotonia
OMIM:608380	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:608380	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:608380	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CERKL	375298	HP:0000505	Visual impairment
OMIM:608380	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:191100	TSC1	7248	HP:0000107	Renal cyst
OMIM:191100	TSC1	7248	HP:0003812	Phenotypic variability
OMIM:191100	TSC1	7248	HP:0009720	Adenoma sebaceum
OMIM:191100	TSC1	7248	HP:0200024	Premature chromatid separation
OMIM:191100	TSC1	7248	HP:0010762	Chordoma
OMIM:191100	TSC1	7248	HP:0009717	Cortical tubers
OMIM:191100	TSC1	7248	HP:0000006	Autosomal dominant inheritance
OMIM:191100	TSC1	7248	HP:0009554	Projection of scalp hair onto lateral cheek
OMIM:191100	TSC1	7248	HP:0000826	Precocious puberty
OMIM:191100	TSC1	7248	HP:0009721	Shagreen patch
OMIM:191100	TSC1	7248	HP:0002888	Ependymoma
OMIM:191100	TSC1	7248	HP:0000169	Gingival fibromatosis
OMIM:191100	TSC1	7248	HP:0002514	Cerebral calcification
OMIM:191100	TSC1	7248	HP:0009716	Subependymal nodules
OMIM:191100	TSC1	7248	HP:0000717	Autism
OMIM:191100	TSC1	7248	HP:0009592	Astrocytoma
OMIM:191100	TSC1	7248	HP:0007018	Attention deficit hyperactivity disorder
OMIM:191100	TSC1	7248	HP:0002086	Abnormality of the respiratory system
OMIM:191100	TSC1	7248	HP:0001482	Subcutaneous nodule
OMIM:191100	TSC1	7248	HP:0001425	Heterogeneous
OMIM:191100	TSC1	7248	HP:0005584	Renal cell carcinoma
OMIM:191100	TSC1	7248	HP:0006772	Renal angiomyolipoma
OMIM:191100	TSC1	7248	HP:0000821	Hypothyroidism
OMIM:191100	TSC1	7248	HP:0009729	Cardiac rhabdomyoma
OMIM:191100	TSC1	7248	HP:0009724	Subungual fibromas
OMIM:191100	TSC1	7248	HP:0009722	Dental enamel pits
OMIM:191100	TSC1	7248	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:191100	TSC1	7248	HP:0009734	Optic glioma
OMIM:191100	TSC1	7248	HP:0009727	Achromatic retinal patches
OMIM:191100	TSC1	7248	HP:0012469	Infantile spasms
OMIM:191100	TSC1	7248	HP:0000957	Cafe-au-lait spot
OMIM:191100	TSC1	7248	HP:0001328	Specific learning disability
OMIM:191100	TSC1	7248	HP:0009719	Hypomelanotic macule
OMIM:202300	TP53	7157	HP:0000007	Autosomal recessive inheritance
OMIM:202300	TP53	7157	HP:0006744	Adrenocortical carcinoma
OMIM:617537	HIST1H1E	3008	HP:0005616	Accelerated skeletal maturation
OMIM:617537	HIST1H1E	3008	HP:0000293	Full cheeks
OMIM:617537	HIST1H1E	3008	HP:0000486	Strabismus
OMIM:617537	HIST1H1E	3008	HP:0000483	Astigmatism
OMIM:617537	HIST1H1E	3008	HP:0003764	Nevus
OMIM:617537	HIST1H1E	3008	HP:0001319	Neonatal hypotonia
OMIM:617537	HIST1H1E	3008	HP:0000256	Macrocephaly
OMIM:617537	HIST1H1E	3008	HP:0001263	Global developmental delay
OMIM:617537	HIST1H1E	3008	HP:0000006	Autosomal dominant inheritance
OMIM:617537	HIST1H1E	3008	HP:0002751	Kyphoscoliosis
OMIM:617537	HIST1H1E	3008	HP:0001762	Talipes equinovarus
OMIM:617537	HIST1H1E	3008	HP:0012385	Camptodactyly
OMIM:617537	HIST1H1E	3008	HP:0000646	Amblyopia
OMIM:617537	HIST1H1E	3008	HP:0001249	Intellectual disability
OMIM:617537	HIST1H1E	3008	HP:0000506	Telecanthus
OMIM:617537	HIST1H1E	3008	HP:0001276	Hypertonia
OMIM:300354	CUL4B	8450	HP:0004482	Relative macrocephaly
OMIM:300354	CUL4B	8450	HP:0001761	Pes cavus
OMIM:300354	CUL4B	8450	HP:0000047	Hypospadias
OMIM:300354	CUL4B	8450	HP:0000720	Mood swings
OMIM:300354	CUL4B	8450	HP:0001065	Striae distensae
OMIM:300354	CUL4B	8450	HP:0000028	Cryptorchidism
OMIM:300354	CUL4B	8450	HP:0000348	High forehead
OMIM:300354	CUL4B	8450	HP:0002808	Kyphosis
OMIM:300354	CUL4B	8450	HP:0001290	Generalized hypotonia
OMIM:300354	CUL4B	8450	HP:0001388	Joint laxity
OMIM:300354	CUL4B	8450	HP:0000054	Micropenis
OMIM:300354	CUL4B	8450	HP:0001419	X-linked recessive inheritance
OMIM:300354	CUL4B	8450	HP:0000377	Abnormality of the pinna
OMIM:300354	CUL4B	8450	HP:0000158	Macroglossia
OMIM:300354	CUL4B	8450	HP:0005280	Depressed nasal bridge
OMIM:300354	CUL4B	8450	HP:0004322	Short stature
OMIM:300354	CUL4B	8450	HP:0000823	Delayed puberty
OMIM:300354	CUL4B	8450	HP:0000752	Hyperactivity
OMIM:300354	CUL4B	8450	HP:0001249	Intellectual disability
OMIM:300354	CUL4B	8450	HP:0002119	Ventriculomegaly
OMIM:300354	CUL4B	8450	HP:0000303	Mandibular prognathia
OMIM:300354	CUL4B	8450	HP:0001252	Muscular hypotonia
OMIM:300354	CUL4B	8450	HP:0000135	Hypogonadism
OMIM:300354	CUL4B	8450	HP:0200055	Small hand
OMIM:300354	CUL4B	8450	HP:0000154	Wide mouth
OMIM:300354	CUL4B	8450	HP:0000280	Coarse facial features
OMIM:300354	CUL4B	8450	HP:0001344	Absent speech
OMIM:607453	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607453	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:614699	CR2	1380	HP:0002205	Recurrent respiratory infections
OMIM:614699	CR2	1380	HP:0002028	Chronic diarrhea
OMIM:614699	CR2	1380	HP:0002720	IgA deficiency
OMIM:614699	CR2	1380	HP:0002721	Immunodeficiency
OMIM:614699	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:615156	DNA2	1763	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615156	DNA2	1763	HP:0003325	Limb-girdle muscle weakness
OMIM:615156	DNA2	1763	HP:0003677	Slow progression
OMIM:615156	DNA2	1763	HP:0001533	Slender build
OMIM:615156	DNA2	1763	HP:0003326	Myalgia
OMIM:615156	DNA2	1763	HP:0003546	Exercise intolerance
OMIM:615156	DNA2	1763	HP:0002875	Exertional dyspnea
OMIM:615156	DNA2	1763	HP:0003391	Gowers sign
OMIM:615156	DNA2	1763	HP:0003700	Generalized amyotrophy
OMIM:615156	DNA2	1763	HP:0000590	Progressive external ophthalmoplegia
OMIM:615156	DNA2	1763	HP:0000508	Ptosis
OMIM:615156	DNA2	1763	HP:0001288	Gait disturbance
OMIM:615156	DNA2	1763	HP:0003394	Muscle cramps
OMIM:615156	DNA2	1763	HP:0010628	Facial palsy
OMIM:615156	DNA2	1763	HP:0000006	Autosomal dominant inheritance
OMIM:617061	TRIO	7204	HP:0000347	Micrognathia
OMIM:617061	TRIO	7204	HP:0007018	Attention deficit hyperactivity disorder
OMIM:617061	TRIO	7204	HP:0000494	Downslanted palpebral fissures
OMIM:617061	TRIO	7204	HP:0000750	Delayed speech and language development
OMIM:617061	TRIO	7204	HP:0000582	Upslanted palpebral fissure
OMIM:617061	TRIO	7204	HP:0000252	Microcephaly
OMIM:617061	TRIO	7204	HP:0000668	Hypodontia
OMIM:617061	TRIO	7204	HP:0000664	Synophrys
OMIM:617061	TRIO	7204	HP:0001182	Tapered finger
OMIM:617061	TRIO	7204	HP:0012471	Thick vermilion border
OMIM:617061	TRIO	7204	HP:0000218	High palate
OMIM:617061	TRIO	7204	HP:0000678	Dental crowding
OMIM:617061	TRIO	7204	HP:0001270	Motor delay
OMIM:617061	TRIO	7204	HP:0000348	High forehead
OMIM:617061	TRIO	7204	HP:0004691	2-3 toe syndactyly
OMIM:617061	TRIO	7204	HP:0000400	Macrotia
OMIM:617061	TRIO	7204	HP:0000574	Thick eyebrow
OMIM:617061	TRIO	7204	HP:0000718	Aggressive behavior
OMIM:617061	TRIO	7204	HP:0030084	Clinodactyly
OMIM:617061	TRIO	7204	HP:0003196	Short nose
OMIM:617061	TRIO	7204	HP:0001156	Brachydactyly
OMIM:617061	TRIO	7204	HP:0000006	Autosomal dominant inheritance
OMIM:617061	TRIO	7204	HP:0002465	Poor speech
OMIM:617061	TRIO	7204	HP:0000722	Obsessive-compulsive behavior
OMIM:617061	TRIO	7204	HP:0003812	Phenotypic variability
OMIM:233400	HSD17B4	3295	HP:0001762	Talipes equinovarus
OMIM:233400	HSD17B4	3295	HP:0000639	Nystagmus
OMIM:233400	HSD17B4	3295	HP:0001761	Pes cavus
OMIM:233400	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:233400	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:233400	HSD17B4	3295	HP:0000133	Gonadal dysgenesis
OMIM:233400	HSD17B4	3295	HP:0000218	High palate
OMIM:233400	HSD17B4	3295	HP:0000939	Osteoporosis
OMIM:233400	HSD17B4	3295	HP:0007941	Limited extraocular movements
OMIM:233400	HSD17B4	3295	HP:0002066	Gait ataxia
OMIM:233400	HSD17B4	3295	HP:0002650	Scoliosis
OMIM:233400	HSD17B4	3295	HP:0003812	Phenotypic variability
OMIM:233400	HSD17B4	3295	HP:0004322	Short stature
OMIM:233400	HSD17B4	3295	HP:0000407	Sensorineural hearing impairment
OMIM:233400	HSD17B4	3295	HP:0000837	Increased circulating gonadotropin level
OMIM:271400	RPSA	3921	HP:0000006	Autosomal dominant inheritance
OMIM:271400	RPSA	3921	HP:0003593	Infantile onset
OMIM:271400	RPSA	3921	HP:0001438	Abnormality of abdomen morphology
OMIM:271400	RPSA	3921	HP:0000007	Autosomal recessive inheritance
OMIM:271400	RPSA	3921	HP:0001746	Asplenia
OMIM:271400	RPSA	3921	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:79281	NAGA	4668	HP:0000717	Autism
ORPHA:79281	NAGA	4668	HP:0000518	Cataract
ORPHA:79281	NAGA	4668	HP:0002240	Hepatomegaly
ORPHA:79281	NAGA	4668	HP:0000486	Strabismus
ORPHA:79281	NAGA	4668	HP:0001249	Intellectual disability
ORPHA:79281	NAGA	4668	HP:0001250	Seizures
ORPHA:79281	NAGA	4668	HP:0001263	Global developmental delay
ORPHA:79281	NAGA	4668	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616050	NLRC4	58484	HP:0001744	Splenomegaly
OMIM:616050	NLRC4	58484	HP:0004322	Short stature
OMIM:616050	NLRC4	58484	HP:0001876	Pancytopenia
OMIM:616050	NLRC4	58484	HP:0003326	Myalgia
OMIM:616050	NLRC4	58484	HP:0000006	Autosomal dominant inheritance
OMIM:616050	NLRC4	58484	HP:0003281	Increased serum ferritin
OMIM:616050	NLRC4	58484	HP:0004387	Enterocolitis
OMIM:616050	NLRC4	58484	HP:0001508	Failure to thrive
OMIM:616050	NLRC4	58484	HP:0002829	Arthralgia
OMIM:616050	NLRC4	58484	HP:0005521	Disseminated intravascular coagulation
OMIM:616050	NLRC4	58484	HP:0000988	Skin rash
OMIM:616050	NLRC4	58484	HP:0001945	Fever
OMIM:610542	GFPT1	2673	HP:0003394	Muscle cramps
OMIM:610542	GFPT1	2673	HP:0000597	Ophthalmoparesis
OMIM:610542	GFPT1	2673	HP:0003388	Easy fatigability
OMIM:610542	GFPT1	2673	HP:0003391	Gowers sign
OMIM:610542	GFPT1	2673	HP:0003621	Juvenile onset
OMIM:610542	GFPT1	2673	HP:0000508	Ptosis
OMIM:610542	GFPT1	2673	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
OMIM:610542	GFPT1	2673	HP:0000007	Autosomal recessive inheritance
OMIM:610542	GFPT1	2673	HP:0000467	Neck muscle weakness
OMIM:610542	GFPT1	2673	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:610542	GFPT1	2673	HP:0007126	Proximal amyotrophy
OMIM:610542	GFPT1	2673	HP:0002515	Waddling gait
OMIM:610542	GFPT1	2673	HP:0010628	Facial palsy
OMIM:610542	GFPT1	2673	HP:0003473	Fatigable weakness
OMIM:615593	TNFRSF4	7293	HP:0004844	Coombs-positive hemolytic anemia
OMIM:615593	TNFRSF4	7293	HP:0001876	Pancytopenia
OMIM:615593	TNFRSF4	7293	HP:0000007	Autosomal recessive inheritance
OMIM:615593	TNFRSF4	7293	HP:0002721	Immunodeficiency
OMIM:615593	TNFRSF4	7293	HP:0001744	Splenomegaly
OMIM:615593	TNFRSF4	7293	HP:0003621	Juvenile onset
OMIM:613266	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:613266	SOX10	6663	HP:0000135	Hypogonadism
OMIM:613266	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:613266	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:613266	SOX10	6663	HP:0001425	Heterogeneous
OMIM:613266	SOX10	6663	HP:0002227	White eyelashes
OMIM:613266	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:613266	SOX10	6663	HP:0002251	Aganglionic megacolon
OMIM:613266	SOX10	6663	HP:0002211	White forelock
OMIM:613266	SOX10	6663	HP:0000635	Blue irides
OMIM:613266	SOX10	6663	HP:0002226	White eyebrow
OMIM:613266	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:613266	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:609313	AP1S1	1174	HP:0002014	Diarrhea
OMIM:609313	AP1S1	1174	HP:0000348	High forehead
OMIM:609313	AP1S1	1174	HP:0003577	Congenital onset
OMIM:609313	AP1S1	1174	HP:0000365	Hearing impairment
OMIM:609313	AP1S1	1174	HP:0001249	Intellectual disability
OMIM:609313	AP1S1	1174	HP:0000582	Upslanted palpebral fissure
OMIM:609313	AP1S1	1174	HP:0001263	Global developmental delay
OMIM:609313	AP1S1	1174	HP:0001394	Cirrhosis
OMIM:609313	AP1S1	1174	HP:0001396	Cholestasis
OMIM:609313	AP1S1	1174	HP:0009830	Peripheral neuropathy
OMIM:609313	AP1S1	1174	HP:0000007	Autosomal recessive inheritance
OMIM:609313	AP1S1	1174	HP:0010783	Erythema
OMIM:609313	AP1S1	1174	HP:0002242	Abnormality of the intestine
OMIM:609313	AP1S1	1174	HP:0001395	Hepatic fibrosis
OMIM:609313	AP1S1	1174	HP:0001510	Growth delay
OMIM:609313	AP1S1	1174	HP:0001290	Generalized hypotonia
OMIM:609313	AP1S1	1174	HP:0008064	Ichthyosis
OMIM:610967	IFITM5	387733	HP:0000938	Osteopenia
OMIM:610967	IFITM5	387733	HP:0006394	Limited pronation/supination of forearm
OMIM:610967	IFITM5	387733	HP:0005084	Anterior radial head dislocation
OMIM:610967	IFITM5	387733	HP:0000325	Triangular face
OMIM:610967	IFITM5	387733	HP:0030268	Hyperplastic callus formation
OMIM:610967	IFITM5	387733	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:610967	IFITM5	387733	HP:0004586	Biconcave vertebral bodies
OMIM:610967	IFITM5	387733	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:610967	IFITM5	387733	HP:0002645	Wormian bones
OMIM:610967	IFITM5	387733	HP:0004322	Short stature
OMIM:610967	IFITM5	387733	HP:0008422	Vertebral wedging
OMIM:610967	IFITM5	387733	HP:0000006	Autosomal dominant inheritance
OMIM:610967	IFITM5	387733	HP:0000926	Platyspondyly
OMIM:610967	IFITM5	387733	HP:0002757	Recurrent fractures
OMIM:616220	CRB2	286204	HP:0000100	Nephrotic syndrome
OMIM:616220	CRB2	286204	HP:0000007	Autosomal recessive inheritance
OMIM:616220	CRB2	286204	HP:0000097	Focal segmental glomerulosclerosis
OMIM:612900	KANK1	23189	HP:0002119	Ventriculomegaly
OMIM:612900	KANK1	23189	HP:0002059	Cerebral atrophy
OMIM:612900	KANK1	23189	HP:0002510	Spastic tetraplegia
OMIM:612900	KANK1	23189	HP:0100021	Cerebral palsy
OMIM:612900	KANK1	23189	HP:0012275	Autosomal dominant inheritance with maternal imprinting
OMIM:612900	KANK1	23189	HP:0001252	Muscular hypotonia
OMIM:612900	KANK1	23189	HP:0001249	Intellectual disability
OMIM:615207	IL21R	50615	HP:0001399	Hepatic failure
OMIM:615207	IL21R	50615	HP:0002721	Immunodeficiency
OMIM:615207	IL21R	50615	HP:0001508	Failure to thrive
OMIM:615207	IL21R	50615	HP:0002028	Chronic diarrhea
OMIM:615207	IL21R	50615	HP:0002090	Pneumonia
OMIM:615207	IL21R	50615	HP:0000007	Autosomal recessive inheritance
OMIM:615207	IL21R	50615	HP:0001394	Cirrhosis
OMIM:615207	IL21R	50615	HP:0002110	Bronchiectasis
OMIM:615207	IL21R	50615	HP:0030151	Cholangitis
OMIM:615207	IL21R	50615	HP:0200124	Chronic hepatitis due to cryptospridium infection
OMIM:615207	IL21R	50615	HP:0011108	Recurrent sinusitis
OMIM:611553	RAF1	5894	HP:0001263	Global developmental delay
OMIM:611553	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611553	RAF1	5894	HP:0000766	Abnormality of the sternum
OMIM:611553	RAF1	5894	HP:0001999	Abnormal facial shape
OMIM:611553	RAF1	5894	HP:0000470	Short neck
OMIM:270450	IGF1R	3480	HP:0000007	Autosomal recessive inheritance
OMIM:270450	IGF1R	3480	HP:0000713	Agitation
OMIM:270450	IGF1R	3480	HP:0004325	Decreased body weight
OMIM:270450	IGF1R	3480	HP:0000219	Thin upper lip vermilion
OMIM:270450	IGF1R	3480	HP:0000739	Anxiety
OMIM:270450	IGF1R	3480	HP:0003577	Congenital onset
OMIM:270450	IGF1R	3480	HP:0001999	Abnormal facial shape
OMIM:270450	IGF1R	3480	HP:0001511	Intrauterine growth retardation
OMIM:270450	IGF1R	3480	HP:0000750	Delayed speech and language development
OMIM:270450	IGF1R	3480	HP:0030084	Clinodactyly
OMIM:270450	IGF1R	3480	HP:0000319	Smooth philtrum
OMIM:270450	IGF1R	3480	HP:0004322	Short stature
OMIM:270450	IGF1R	3480	HP:0009466	Radial deviation of finger
OMIM:270450	IGF1R	3480	HP:0001547	Abnormality of the rib cage
OMIM:270450	IGF1R	3480	HP:0001270	Motor delay
OMIM:270450	IGF1R	3480	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:270450	IGF1R	3480	HP:0000343	Long philtrum
OMIM:270450	IGF1R	3480	HP:0000767	Pectus excavatum
OMIM:270450	IGF1R	3480	HP:0000006	Autosomal dominant inheritance
OMIM:270450	IGF1R	3480	HP:0000252	Microcephaly
OMIM:270450	IGF1R	3480	HP:0000431	Wide nasal bridge
OMIM:270450	IGF1R	3480	HP:0002750	Delayed skeletal maturation
ORPHA:231237	HBB	3043	HP:0011902	Abnormal hemoglobin
ORPHA:231237	HBB	3043	HP:0001935	Microcytic anemia
ORPHA:231237	HBD	3045	HP:0011902	Abnormal hemoglobin
ORPHA:231237	HBD	3045	HP:0001935	Microcytic anemia
ORPHA:231237	HBG1	3047	HP:0011902	Abnormal hemoglobin
ORPHA:231237	HBG1	3047	HP:0001935	Microcytic anemia
OMIM:614165	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHA	6389	HP:0002668	Paraganglioma
OMIM:236680	HYLS1	219844	HP:0001305	Dandy-Walker malformation
OMIM:236680	HYLS1	219844	HP:0001539	Omphalocele
OMIM:236680	HYLS1	219844	HP:0011803	Bifid nose
OMIM:236680	HYLS1	219844	HP:0001274	Agenesis of corpus callosum
OMIM:236680	HYLS1	219844	HP:0002536	Abnormal cortical gyration
OMIM:236680	HYLS1	219844	HP:0000475	Broad neck
OMIM:236680	HYLS1	219844	HP:0000007	Autosomal recessive inheritance
OMIM:236680	HYLS1	219844	HP:0001177	Preaxial hand polydactyly
OMIM:236680	HYLS1	219844	HP:0002139	Arrhinencephaly
OMIM:236680	HYLS1	219844	HP:0001511	Intrauterine growth retardation
OMIM:236680	HYLS1	219844	HP:0008216	Adrenal gland dysgenesis
OMIM:236680	HYLS1	219844	HP:0008986	Agenesis of the diaphragm
OMIM:236680	HYLS1	219844	HP:0000142	Abnormality of the vagina
OMIM:236680	HYLS1	219844	HP:0001747	Accessory spleen
OMIM:236680	HYLS1	219844	HP:0001629	Ventricular septal defect
OMIM:236680	HYLS1	219844	HP:0000161	Median cleft lip
OMIM:236680	HYLS1	219844	HP:0002282	Heterotopia
OMIM:236680	HYLS1	219844	HP:0001331	Absent septum pellucidum
OMIM:236680	HYLS1	219844	HP:0006379	Proximal tibial hypoplasia
OMIM:607906	ALG2	85365	HP:0000518	Cataract
OMIM:607906	ALG2	85365	HP:0001347	Hyperreflexia
OMIM:607906	ALG2	85365	HP:0002521	Hypsarrhythmia
OMIM:607906	ALG2	85365	HP:0001928	Abnormality of coagulation
OMIM:607906	ALG2	85365	HP:0001250	Seizures
OMIM:607906	ALG2	85365	HP:0002240	Hepatomegaly
OMIM:607906	ALG2	85365	HP:0000639	Nystagmus
OMIM:607906	ALG2	85365	HP:0000589	Coloboma
OMIM:607906	ALG2	85365	HP:0001263	Global developmental delay
OMIM:607906	ALG2	85365	HP:0000007	Autosomal recessive inheritance
OMIM:607906	ALG2	85365	HP:0000505	Visual impairment
OMIM:607906	ALG2	85365	HP:0001249	Intellectual disability
OMIM:601338	ATP1A3	478	HP:0000618	Blindness
OMIM:601338	ATP1A3	478	HP:0006852	Episodic generalized hypotonia
OMIM:601338	ATP1A3	478	HP:0001310	Dysmetria
OMIM:601338	ATP1A3	478	HP:0002131	Episodic ataxia
OMIM:601338	ATP1A3	478	HP:0001284	Areflexia
OMIM:601338	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:601338	ATP1A3	478	HP:0000639	Nystagmus
OMIM:601338	ATP1A3	478	HP:0000408	Progressive sensorineural hearing impairment
OMIM:601338	ATP1A3	478	HP:0001761	Pes cavus
OMIM:601338	ATP1A3	478	HP:0001324	Muscle weakness
OMIM:601338	ATP1A3	478	HP:0001269	Hemiparesis
OMIM:601338	ATP1A3	478	HP:0001332	Dystonia
OMIM:601338	ATP1A3	478	HP:0001260	Dysarthria
OMIM:601338	ATP1A3	478	HP:0000529	Progressive visual loss
OMIM:601338	ATP1A3	478	HP:0002078	Truncal ataxia
OMIM:601338	ATP1A3	478	HP:0002066	Gait ataxia
OMIM:601338	ATP1A3	478	HP:0000648	Optic atrophy
OMIM:246200	INSR	3643	HP:0000040	Long penis
OMIM:246200	INSR	3643	HP:0001396	Cholestasis
OMIM:246200	INSR	3643	HP:0000154	Wide mouth
OMIM:246200	INSR	3643	HP:0000842	Hyperinsulinemia
OMIM:246200	INSR	3643	HP:0000274	Small face
OMIM:246200	INSR	3643	HP:0001833	Long foot
OMIM:246200	INSR	3643	HP:0000179	Thick lower lip vermilion
OMIM:246200	INSR	3643	HP:0008887	Adipose tissue loss
OMIM:246200	INSR	3643	HP:0000520	Proptosis
OMIM:246200	INSR	3643	HP:0001395	Hepatic fibrosis
OMIM:246200	INSR	3643	HP:0004428	Elfin facies
OMIM:246200	INSR	3643	HP:0001034	Hypermelanotic macule
OMIM:246200	INSR	3643	HP:0000962	Hyperkeratosis
OMIM:246200	INSR	3643	HP:0000369	Low-set ears
OMIM:246200	INSR	3643	HP:0008897	Postnatal growth retardation
OMIM:246200	INSR	3643	HP:0001511	Intrauterine growth retardation
OMIM:246200	INSR	3643	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:246200	INSR	3643	HP:0003270	Abdominal distention
OMIM:246200	INSR	3643	HP:0000998	Hypertrichosis
OMIM:246200	INSR	3643	HP:0000138	Ovarian cyst
OMIM:246200	INSR	3643	HP:0001176	Large hands
OMIM:246200	INSR	3643	HP:0000212	Gingival overgrowth
OMIM:246200	INSR	3643	HP:0003202	Skeletal muscle atrophy
OMIM:246200	INSR	3643	HP:0002164	Nail dysplasia
OMIM:246200	INSR	3643	HP:0002719	Recurrent infections
OMIM:246200	INSR	3643	HP:0008665	Clitoral hypertrophy
OMIM:246200	INSR	3643	HP:0000956	Acanthosis nigricans
OMIM:246200	INSR	3643	HP:0000007	Autosomal recessive inheritance
OMIM:246200	INSR	3643	HP:0003074	Hyperglycemia
OMIM:246200	INSR	3643	HP:0004298	Abnormality of the abdominal wall
OMIM:246200	INSR	3643	HP:0002750	Delayed skeletal maturation
OMIM:246200	INSR	3643	HP:0003162	Fasting hypoglycemia
OMIM:246200	INSR	3643	HP:0011998	Postprandial hyperglycemia
OMIM:246200	INSR	3643	HP:0000400	Macrotia
OMIM:246200	INSR	3643	HP:0000826	Precocious puberty
OMIM:246200	INSR	3643	HP:0004405	Prominent nipples
OMIM:246200	INSR	3643	HP:0001525	Severe failure to thrive
OMIM:300807	F9	2158	HP:0001417	X-linked inheritance
OMIM:300807	F9	2158	HP:0010989	Abnormality of the intrinsic pathway
OMIM:300807	F9	2158	HP:0100724	Hypercoagulability
OMIM:300807	F9	2158	HP:0002625	Deep venous thrombosis
OMIM:225100	ADAMTSL4	54507	HP:0001083	Ectopia lentis
OMIM:225100	ADAMTSL4	54507	HP:0000007	Autosomal recessive inheritance
OMIM:616938	SMARCE1	6605	HP:0009928	Thick nasal alae
OMIM:616938	SMARCE1	6605	HP:0009882	Short distal phalanx of finger
OMIM:616938	SMARCE1	6605	HP:0001305	Dandy-Walker malformation
OMIM:616938	SMARCE1	6605	HP:0000280	Coarse facial features
OMIM:616938	SMARCE1	6605	HP:0001263	Global developmental delay
OMIM:616938	SMARCE1	6605	HP:0001631	Atrial septal defect
OMIM:616938	SMARCE1	6605	HP:0002719	Recurrent infections
OMIM:616938	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:616938	SMARCE1	6605	HP:0002209	Sparse scalp hair
OMIM:616938	SMARCE1	6605	HP:0000154	Wide mouth
OMIM:616938	SMARCE1	6605	HP:0000508	Ptosis
OMIM:616938	SMARCE1	6605	HP:0000322	Short philtrum
OMIM:616938	SMARCE1	6605	HP:0001810	Dystrophic toenail
OMIM:616938	SMARCE1	6605	HP:0001852	Sandal gap
OMIM:616938	SMARCE1	6605	HP:0001800	Hypoplastic toenails
OMIM:616938	SMARCE1	6605	HP:0001511	Intrauterine growth retardation
OMIM:616938	SMARCE1	6605	HP:0001166	Arachnodactyly
OMIM:616938	SMARCE1	6605	HP:0000574	Thick eyebrow
OMIM:616938	SMARCE1	6605	HP:0001321	Cerebellar hypoplasia
OMIM:616938	SMARCE1	6605	HP:0011968	Feeding difficulties
OMIM:616938	SMARCE1	6605	HP:0004322	Short stature
OMIM:616938	SMARCE1	6605	HP:0000445	Wide nose
OMIM:616938	SMARCE1	6605	HP:0000179	Thick lower lip vermilion
OMIM:616938	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:616938	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:616938	SMARCE1	6605	HP:0005280	Depressed nasal bridge
OMIM:616938	SMARCE1	6605	HP:0000219	Thin upper lip vermilion
OMIM:616938	SMARCE1	6605	HP:0000252	Microcephaly
OMIM:616938	SMARCE1	6605	HP:0001344	Absent speech
OMIM:616938	SMARCE1	6605	HP:0000294	Low anterior hairline
OMIM:616938	SMARCE1	6605	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:84	RAD51	5888	HP:0001053	Hypopigmented skin patches
ORPHA:84	RAD51	5888	HP:0004322	Short stature
ORPHA:84	RAD51	5888	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	RAD51	5888	HP:0012745	Short palpebral fissure
ORPHA:84	RAD51	5888	HP:0002650	Scoliosis
ORPHA:84	RAD51	5888	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	RAD51	5888	HP:0001882	Leukopenia
ORPHA:84	RAD51	5888	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	RAD51	5888	HP:0003220	Abnormality of chromosome stability
ORPHA:84	RAD51	5888	HP:0007400	Irregular hyperpigmentation
ORPHA:84	RAD51	5888	HP:0001263	Global developmental delay
ORPHA:84	RAD51	5888	HP:0001249	Intellectual disability
ORPHA:84	RAD51	5888	HP:0000252	Microcephaly
ORPHA:84	RAD51	5888	HP:0001873	Thrombocytopenia
ORPHA:84	FANCC	2176	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCC	2176	HP:0004322	Short stature
ORPHA:84	FANCC	2176	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCC	2176	HP:0012745	Short palpebral fissure
ORPHA:84	FANCC	2176	HP:0002650	Scoliosis
ORPHA:84	FANCC	2176	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCC	2176	HP:0001882	Leukopenia
ORPHA:84	FANCC	2176	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCC	2176	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCC	2176	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCC	2176	HP:0001263	Global developmental delay
ORPHA:84	FANCC	2176	HP:0001249	Intellectual disability
ORPHA:84	FANCC	2176	HP:0000252	Microcephaly
ORPHA:84	FANCC	2176	HP:0001873	Thrombocytopenia
ORPHA:84	FANCD2	2177	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCD2	2177	HP:0004322	Short stature
ORPHA:84	FANCD2	2177	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCD2	2177	HP:0012745	Short palpebral fissure
ORPHA:84	FANCD2	2177	HP:0002650	Scoliosis
ORPHA:84	FANCD2	2177	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCD2	2177	HP:0001882	Leukopenia
ORPHA:84	FANCD2	2177	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCD2	2177	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCD2	2177	HP:0001263	Global developmental delay
ORPHA:84	FANCD2	2177	HP:0001249	Intellectual disability
ORPHA:84	FANCD2	2177	HP:0000252	Microcephaly
ORPHA:84	FANCD2	2177	HP:0001873	Thrombocytopenia
ORPHA:84	FANCM	57697	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCM	57697	HP:0004322	Short stature
ORPHA:84	FANCM	57697	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCM	57697	HP:0012745	Short palpebral fissure
ORPHA:84	FANCM	57697	HP:0002650	Scoliosis
ORPHA:84	FANCM	57697	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCM	57697	HP:0001882	Leukopenia
ORPHA:84	FANCM	57697	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCM	57697	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCM	57697	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCM	57697	HP:0001263	Global developmental delay
ORPHA:84	FANCM	57697	HP:0001249	Intellectual disability
ORPHA:84	FANCM	57697	HP:0000252	Microcephaly
ORPHA:84	FANCM	57697	HP:0001873	Thrombocytopenia
ORPHA:84	RAD51C	5889	HP:0001053	Hypopigmented skin patches
ORPHA:84	RAD51C	5889	HP:0004322	Short stature
ORPHA:84	RAD51C	5889	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	RAD51C	5889	HP:0012745	Short palpebral fissure
ORPHA:84	RAD51C	5889	HP:0002650	Scoliosis
ORPHA:84	RAD51C	5889	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	RAD51C	5889	HP:0001882	Leukopenia
ORPHA:84	RAD51C	5889	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
ORPHA:84	RAD51C	5889	HP:0007400	Irregular hyperpigmentation
ORPHA:84	RAD51C	5889	HP:0001263	Global developmental delay
ORPHA:84	RAD51C	5889	HP:0001249	Intellectual disability
ORPHA:84	RAD51C	5889	HP:0000252	Microcephaly
ORPHA:84	RAD51C	5889	HP:0001873	Thrombocytopenia
ORPHA:84	UBE2T	29089	HP:0001053	Hypopigmented skin patches
ORPHA:84	UBE2T	29089	HP:0004322	Short stature
ORPHA:84	UBE2T	29089	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	UBE2T	29089	HP:0012745	Short palpebral fissure
ORPHA:84	UBE2T	29089	HP:0002650	Scoliosis
ORPHA:84	UBE2T	29089	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	UBE2T	29089	HP:0001882	Leukopenia
ORPHA:84	UBE2T	29089	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
ORPHA:84	UBE2T	29089	HP:0007400	Irregular hyperpigmentation
ORPHA:84	UBE2T	29089	HP:0001263	Global developmental delay
ORPHA:84	UBE2T	29089	HP:0001249	Intellectual disability
ORPHA:84	UBE2T	29089	HP:0000252	Microcephaly
ORPHA:84	UBE2T	29089	HP:0001873	Thrombocytopenia
ORPHA:84	FANCE	2178	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCE	2178	HP:0004322	Short stature
ORPHA:84	FANCE	2178	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCE	2178	HP:0012745	Short palpebral fissure
ORPHA:84	FANCE	2178	HP:0002650	Scoliosis
ORPHA:84	FANCE	2178	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCE	2178	HP:0001882	Leukopenia
ORPHA:84	FANCE	2178	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCE	2178	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCE	2178	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCE	2178	HP:0001263	Global developmental delay
ORPHA:84	FANCE	2178	HP:0001249	Intellectual disability
ORPHA:84	FANCE	2178	HP:0000252	Microcephaly
ORPHA:84	FANCE	2178	HP:0001873	Thrombocytopenia
ORPHA:84	BRCA2	675	HP:0001053	Hypopigmented skin patches
ORPHA:84	BRCA2	675	HP:0004322	Short stature
ORPHA:84	BRCA2	675	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	BRCA2	675	HP:0012745	Short palpebral fissure
ORPHA:84	BRCA2	675	HP:0002650	Scoliosis
ORPHA:84	BRCA2	675	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	BRCA2	675	HP:0001882	Leukopenia
ORPHA:84	BRCA2	675	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	BRCA2	675	HP:0003220	Abnormality of chromosome stability
ORPHA:84	BRCA2	675	HP:0007400	Irregular hyperpigmentation
ORPHA:84	BRCA2	675	HP:0001263	Global developmental delay
ORPHA:84	BRCA2	675	HP:0001249	Intellectual disability
ORPHA:84	BRCA2	675	HP:0000252	Microcephaly
ORPHA:84	BRCA2	675	HP:0001873	Thrombocytopenia
ORPHA:84	FANCB	2187	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCB	2187	HP:0004322	Short stature
ORPHA:84	FANCB	2187	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCB	2187	HP:0012745	Short palpebral fissure
ORPHA:84	FANCB	2187	HP:0002650	Scoliosis
ORPHA:84	FANCB	2187	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCB	2187	HP:0001882	Leukopenia
ORPHA:84	FANCB	2187	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCB	2187	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCB	2187	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCB	2187	HP:0001263	Global developmental delay
ORPHA:84	FANCB	2187	HP:0001249	Intellectual disability
ORPHA:84	FANCB	2187	HP:0000252	Microcephaly
ORPHA:84	FANCB	2187	HP:0001873	Thrombocytopenia
ORPHA:84	FANCF	2188	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCF	2188	HP:0004322	Short stature
ORPHA:84	FANCF	2188	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCF	2188	HP:0012745	Short palpebral fissure
ORPHA:84	FANCF	2188	HP:0002650	Scoliosis
ORPHA:84	FANCF	2188	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCF	2188	HP:0001882	Leukopenia
ORPHA:84	FANCF	2188	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCF	2188	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCF	2188	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCF	2188	HP:0001263	Global developmental delay
ORPHA:84	FANCF	2188	HP:0001249	Intellectual disability
ORPHA:84	FANCF	2188	HP:0000252	Microcephaly
ORPHA:84	FANCF	2188	HP:0001873	Thrombocytopenia
ORPHA:84	FANCG	2189	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCG	2189	HP:0004322	Short stature
ORPHA:84	FANCG	2189	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCG	2189	HP:0012745	Short palpebral fissure
ORPHA:84	FANCG	2189	HP:0002650	Scoliosis
ORPHA:84	FANCG	2189	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCG	2189	HP:0001882	Leukopenia
ORPHA:84	FANCG	2189	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCG	2189	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCG	2189	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCG	2189	HP:0001263	Global developmental delay
ORPHA:84	FANCG	2189	HP:0001249	Intellectual disability
ORPHA:84	FANCG	2189	HP:0000252	Microcephaly
ORPHA:84	FANCG	2189	HP:0001873	Thrombocytopenia
ORPHA:84	FANCI	55215	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCI	55215	HP:0004322	Short stature
ORPHA:84	FANCI	55215	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCI	55215	HP:0012745	Short palpebral fissure
ORPHA:84	FANCI	55215	HP:0002650	Scoliosis
ORPHA:84	FANCI	55215	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCI	55215	HP:0001882	Leukopenia
ORPHA:84	FANCI	55215	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCI	55215	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCI	55215	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCI	55215	HP:0001263	Global developmental delay
ORPHA:84	FANCI	55215	HP:0001249	Intellectual disability
ORPHA:84	FANCI	55215	HP:0000252	Microcephaly
ORPHA:84	FANCI	55215	HP:0001873	Thrombocytopenia
ORPHA:84	FANCL	55120	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCL	55120	HP:0004322	Short stature
ORPHA:84	FANCL	55120	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCL	55120	HP:0012745	Short palpebral fissure
ORPHA:84	FANCL	55120	HP:0002650	Scoliosis
ORPHA:84	FANCL	55120	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCL	55120	HP:0001882	Leukopenia
ORPHA:84	FANCL	55120	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCL	55120	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCL	55120	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCL	55120	HP:0001263	Global developmental delay
ORPHA:84	FANCL	55120	HP:0001249	Intellectual disability
ORPHA:84	FANCL	55120	HP:0000252	Microcephaly
ORPHA:84	FANCL	55120	HP:0001873	Thrombocytopenia
ORPHA:84	PALB2	79728	HP:0001053	Hypopigmented skin patches
ORPHA:84	PALB2	79728	HP:0004322	Short stature
ORPHA:84	PALB2	79728	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	PALB2	79728	HP:0012745	Short palpebral fissure
ORPHA:84	PALB2	79728	HP:0002650	Scoliosis
ORPHA:84	PALB2	79728	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	PALB2	79728	HP:0001882	Leukopenia
ORPHA:84	PALB2	79728	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	PALB2	79728	HP:0003220	Abnormality of chromosome stability
ORPHA:84	PALB2	79728	HP:0007400	Irregular hyperpigmentation
ORPHA:84	PALB2	79728	HP:0001263	Global developmental delay
ORPHA:84	PALB2	79728	HP:0001249	Intellectual disability
ORPHA:84	PALB2	79728	HP:0000252	Microcephaly
ORPHA:84	PALB2	79728	HP:0001873	Thrombocytopenia
ORPHA:84	SLX4	84464	HP:0001053	Hypopigmented skin patches
ORPHA:84	SLX4	84464	HP:0004322	Short stature
ORPHA:84	SLX4	84464	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	SLX4	84464	HP:0012745	Short palpebral fissure
ORPHA:84	SLX4	84464	HP:0002650	Scoliosis
ORPHA:84	SLX4	84464	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	SLX4	84464	HP:0001882	Leukopenia
ORPHA:84	SLX4	84464	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	SLX4	84464	HP:0003220	Abnormality of chromosome stability
ORPHA:84	SLX4	84464	HP:0007400	Irregular hyperpigmentation
ORPHA:84	SLX4	84464	HP:0001263	Global developmental delay
ORPHA:84	SLX4	84464	HP:0001249	Intellectual disability
ORPHA:84	SLX4	84464	HP:0000252	Microcephaly
ORPHA:84	SLX4	84464	HP:0001873	Thrombocytopenia
ORPHA:84	BRIP1	83990	HP:0001053	Hypopigmented skin patches
ORPHA:84	BRIP1	83990	HP:0004322	Short stature
ORPHA:84	BRIP1	83990	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	BRIP1	83990	HP:0012745	Short palpebral fissure
ORPHA:84	BRIP1	83990	HP:0002650	Scoliosis
ORPHA:84	BRIP1	83990	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	BRIP1	83990	HP:0001882	Leukopenia
ORPHA:84	BRIP1	83990	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
ORPHA:84	BRIP1	83990	HP:0007400	Irregular hyperpigmentation
ORPHA:84	BRIP1	83990	HP:0001263	Global developmental delay
ORPHA:84	BRIP1	83990	HP:0001249	Intellectual disability
ORPHA:84	BRIP1	83990	HP:0000252	Microcephaly
ORPHA:84	BRIP1	83990	HP:0001873	Thrombocytopenia
ORPHA:84	ERCC4	2072	HP:0001053	Hypopigmented skin patches
ORPHA:84	ERCC4	2072	HP:0004322	Short stature
ORPHA:84	ERCC4	2072	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	ERCC4	2072	HP:0012745	Short palpebral fissure
ORPHA:84	ERCC4	2072	HP:0002650	Scoliosis
ORPHA:84	ERCC4	2072	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	ERCC4	2072	HP:0001882	Leukopenia
ORPHA:84	ERCC4	2072	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
ORPHA:84	ERCC4	2072	HP:0007400	Irregular hyperpigmentation
ORPHA:84	ERCC4	2072	HP:0001263	Global developmental delay
ORPHA:84	ERCC4	2072	HP:0001249	Intellectual disability
ORPHA:84	ERCC4	2072	HP:0000252	Microcephaly
ORPHA:84	ERCC4	2072	HP:0001873	Thrombocytopenia
ORPHA:84	MAD2L2	10459	HP:0001053	Hypopigmented skin patches
ORPHA:84	MAD2L2	10459	HP:0004322	Short stature
ORPHA:84	MAD2L2	10459	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	MAD2L2	10459	HP:0012745	Short palpebral fissure
ORPHA:84	MAD2L2	10459	HP:0002650	Scoliosis
ORPHA:84	MAD2L2	10459	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	MAD2L2	10459	HP:0001882	Leukopenia
ORPHA:84	MAD2L2	10459	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	MAD2L2	10459	HP:0003220	Abnormality of chromosome stability
ORPHA:84	MAD2L2	10459	HP:0007400	Irregular hyperpigmentation
ORPHA:84	MAD2L2	10459	HP:0001263	Global developmental delay
ORPHA:84	MAD2L2	10459	HP:0001249	Intellectual disability
ORPHA:84	MAD2L2	10459	HP:0000252	Microcephaly
ORPHA:84	MAD2L2	10459	HP:0001873	Thrombocytopenia
ORPHA:84	XRCC2	7516	HP:0001053	Hypopigmented skin patches
ORPHA:84	XRCC2	7516	HP:0004322	Short stature
ORPHA:84	XRCC2	7516	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	XRCC2	7516	HP:0012745	Short palpebral fissure
ORPHA:84	XRCC2	7516	HP:0002650	Scoliosis
ORPHA:84	XRCC2	7516	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	XRCC2	7516	HP:0001882	Leukopenia
ORPHA:84	XRCC2	7516	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	XRCC2	7516	HP:0003220	Abnormality of chromosome stability
ORPHA:84	XRCC2	7516	HP:0007400	Irregular hyperpigmentation
ORPHA:84	XRCC2	7516	HP:0001263	Global developmental delay
ORPHA:84	XRCC2	7516	HP:0001249	Intellectual disability
ORPHA:84	XRCC2	7516	HP:0000252	Microcephaly
ORPHA:84	XRCC2	7516	HP:0001873	Thrombocytopenia
ORPHA:84	FANCA	2175	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCA	2175	HP:0004322	Short stature
ORPHA:84	FANCA	2175	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCA	2175	HP:0012745	Short palpebral fissure
ORPHA:84	FANCA	2175	HP:0002650	Scoliosis
ORPHA:84	FANCA	2175	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCA	2175	HP:0001882	Leukopenia
ORPHA:84	FANCA	2175	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCA	2175	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCA	2175	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCA	2175	HP:0001263	Global developmental delay
ORPHA:84	FANCA	2175	HP:0001249	Intellectual disability
ORPHA:84	FANCA	2175	HP:0000252	Microcephaly
ORPHA:84	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:613805	CDC6	990	HP:0001270	Motor delay
OMIM:613805	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:613805	CDC6	990	HP:0000028	Cryptorchidism
OMIM:613805	CDC6	990	HP:0000054	Micropenis
OMIM:613805	CDC6	990	HP:0005487	Prominent metopic ridge
OMIM:613805	CDC6	990	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	CDC6	990	HP:0003100	Slender long bone
OMIM:613805	CDC6	990	HP:0000325	Triangular face
OMIM:613805	CDC6	990	HP:0000385	Small earlobe
OMIM:613805	CDC6	990	HP:0000369	Low-set ears
OMIM:613805	CDC6	990	HP:0003090	Hypoplasia of the capital femoral epiphysis
OMIM:613805	CDC6	990	HP:0006443	Patellar aplasia
OMIM:613805	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:613805	CDC6	990	HP:0000347	Micrognathia
OMIM:613805	CDC6	990	HP:0006361	Irregular femoral epiphysis
OMIM:613805	CDC6	990	HP:0000343	Long philtrum
OMIM:613805	CDC6	990	HP:0000252	Microcephaly
OMIM:613805	CDC6	990	HP:0001508	Failure to thrive
OMIM:613805	CDC6	990	HP:0002020	Gastroesophageal reflux
OMIM:613805	CDC6	990	HP:0011968	Feeding difficulties
OMIM:613805	CDC6	990	HP:0003042	Elbow dislocation
OMIM:613805	CDC6	990	HP:0008551	Microtia
OMIM:613805	CDC6	990	HP:0003561	Birth length less than 3rd percentile
OMIM:613805	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:613805	CDC6	990	HP:0011342	Mild global developmental delay
ORPHA:65	AIPL1	23746	HP:0001250	Seizures
ORPHA:65	AIPL1	23746	HP:0001141	Severe visual impairment
ORPHA:65	AIPL1	23746	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	AIPL1	23746	HP:0000639	Nystagmus
ORPHA:65	AIPL1	23746	HP:0000563	Keratoconus
ORPHA:65	AIPL1	23746	HP:0001252	Muscular hypotonia
ORPHA:65	AIPL1	23746	HP:0000512	Abnormal electroretinogram
ORPHA:65	AIPL1	23746	HP:0002269	Abnormality of neuronal migration
ORPHA:65	AIPL1	23746	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	AIPL1	23746	HP:0012795	Abnormality of the optic disc
ORPHA:65	AIPL1	23746	HP:0002084	Encephalocele
ORPHA:65	AIPL1	23746	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	AIPL1	23746	HP:0000518	Cataract
ORPHA:65	NMNAT1	64802	HP:0001250	Seizures
ORPHA:65	NMNAT1	64802	HP:0001141	Severe visual impairment
ORPHA:65	NMNAT1	64802	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	NMNAT1	64802	HP:0000639	Nystagmus
ORPHA:65	NMNAT1	64802	HP:0000563	Keratoconus
ORPHA:65	NMNAT1	64802	HP:0001252	Muscular hypotonia
ORPHA:65	NMNAT1	64802	HP:0000512	Abnormal electroretinogram
ORPHA:65	NMNAT1	64802	HP:0002269	Abnormality of neuronal migration
ORPHA:65	NMNAT1	64802	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	NMNAT1	64802	HP:0012795	Abnormality of the optic disc
ORPHA:65	NMNAT1	64802	HP:0002084	Encephalocele
ORPHA:65	NMNAT1	64802	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	NMNAT1	64802	HP:0000518	Cataract
ORPHA:65	SPATA7	55812	HP:0001250	Seizures
ORPHA:65	SPATA7	55812	HP:0001141	Severe visual impairment
ORPHA:65	SPATA7	55812	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	SPATA7	55812	HP:0000639	Nystagmus
ORPHA:65	SPATA7	55812	HP:0000563	Keratoconus
ORPHA:65	SPATA7	55812	HP:0001252	Muscular hypotonia
ORPHA:65	SPATA7	55812	HP:0000512	Abnormal electroretinogram
ORPHA:65	SPATA7	55812	HP:0002269	Abnormality of neuronal migration
ORPHA:65	SPATA7	55812	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	SPATA7	55812	HP:0012795	Abnormality of the optic disc
ORPHA:65	SPATA7	55812	HP:0002084	Encephalocele
ORPHA:65	SPATA7	55812	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	SPATA7	55812	HP:0000518	Cataract
ORPHA:65	RDH12	145226	HP:0001250	Seizures
ORPHA:65	RDH12	145226	HP:0001141	Severe visual impairment
ORPHA:65	RDH12	145226	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	RDH12	145226	HP:0000639	Nystagmus
ORPHA:65	RDH12	145226	HP:0000563	Keratoconus
ORPHA:65	RDH12	145226	HP:0001252	Muscular hypotonia
ORPHA:65	RDH12	145226	HP:0000512	Abnormal electroretinogram
ORPHA:65	RDH12	145226	HP:0002269	Abnormality of neuronal migration
ORPHA:65	RDH12	145226	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	RDH12	145226	HP:0012795	Abnormality of the optic disc
ORPHA:65	RDH12	145226	HP:0002084	Encephalocele
ORPHA:65	RDH12	145226	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	RDH12	145226	HP:0000518	Cataract
ORPHA:65	RPGRIP1	57096	HP:0001250	Seizures
ORPHA:65	RPGRIP1	57096	HP:0001141	Severe visual impairment
ORPHA:65	RPGRIP1	57096	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	RPGRIP1	57096	HP:0000639	Nystagmus
ORPHA:65	RPGRIP1	57096	HP:0000563	Keratoconus
ORPHA:65	RPGRIP1	57096	HP:0001252	Muscular hypotonia
ORPHA:65	RPGRIP1	57096	HP:0000512	Abnormal electroretinogram
ORPHA:65	RPGRIP1	57096	HP:0002269	Abnormality of neuronal migration
ORPHA:65	RPGRIP1	57096	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	RPGRIP1	57096	HP:0012795	Abnormality of the optic disc
ORPHA:65	RPGRIP1	57096	HP:0002084	Encephalocele
ORPHA:65	RPGRIP1	57096	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	RPGRIP1	57096	HP:0000518	Cataract
ORPHA:65	RPE65	6121	HP:0001250	Seizures
ORPHA:65	RPE65	6121	HP:0001141	Severe visual impairment
ORPHA:65	RPE65	6121	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	RPE65	6121	HP:0000639	Nystagmus
ORPHA:65	RPE65	6121	HP:0000563	Keratoconus
ORPHA:65	RPE65	6121	HP:0001252	Muscular hypotonia
ORPHA:65	RPE65	6121	HP:0000512	Abnormal electroretinogram
ORPHA:65	RPE65	6121	HP:0002269	Abnormality of neuronal migration
ORPHA:65	RPE65	6121	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	RPE65	6121	HP:0012795	Abnormality of the optic disc
ORPHA:65	RPE65	6121	HP:0002084	Encephalocele
ORPHA:65	RPE65	6121	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	RPE65	6121	HP:0000518	Cataract
ORPHA:65	LCA5	167691	HP:0001250	Seizures
ORPHA:65	LCA5	167691	HP:0001141	Severe visual impairment
ORPHA:65	LCA5	167691	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	LCA5	167691	HP:0000639	Nystagmus
ORPHA:65	LCA5	167691	HP:0000563	Keratoconus
ORPHA:65	LCA5	167691	HP:0001252	Muscular hypotonia
ORPHA:65	LCA5	167691	HP:0000512	Abnormal electroretinogram
ORPHA:65	LCA5	167691	HP:0002269	Abnormality of neuronal migration
ORPHA:65	LCA5	167691	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	LCA5	167691	HP:0012795	Abnormality of the optic disc
ORPHA:65	LCA5	167691	HP:0002084	Encephalocele
ORPHA:65	LCA5	167691	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	LCA5	167691	HP:0000518	Cataract
ORPHA:65	PCYT1A	5130	HP:0001250	Seizures
ORPHA:65	PCYT1A	5130	HP:0001141	Severe visual impairment
ORPHA:65	PCYT1A	5130	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	PCYT1A	5130	HP:0000639	Nystagmus
ORPHA:65	PCYT1A	5130	HP:0000563	Keratoconus
ORPHA:65	PCYT1A	5130	HP:0001252	Muscular hypotonia
ORPHA:65	PCYT1A	5130	HP:0000512	Abnormal electroretinogram
ORPHA:65	PCYT1A	5130	HP:0002269	Abnormality of neuronal migration
ORPHA:65	PCYT1A	5130	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	PCYT1A	5130	HP:0012795	Abnormality of the optic disc
ORPHA:65	PCYT1A	5130	HP:0002084	Encephalocele
ORPHA:65	PCYT1A	5130	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	PCYT1A	5130	HP:0000518	Cataract
ORPHA:65	LRAT	9227	HP:0001250	Seizures
ORPHA:65	LRAT	9227	HP:0001141	Severe visual impairment
ORPHA:65	LRAT	9227	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	LRAT	9227	HP:0000639	Nystagmus
ORPHA:65	LRAT	9227	HP:0000563	Keratoconus
ORPHA:65	LRAT	9227	HP:0001252	Muscular hypotonia
ORPHA:65	LRAT	9227	HP:0000512	Abnormal electroretinogram
ORPHA:65	LRAT	9227	HP:0002269	Abnormality of neuronal migration
ORPHA:65	LRAT	9227	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	LRAT	9227	HP:0012795	Abnormality of the optic disc
ORPHA:65	LRAT	9227	HP:0002084	Encephalocele
ORPHA:65	LRAT	9227	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	LRAT	9227	HP:0000518	Cataract
ORPHA:65	IFT140	9742	HP:0001250	Seizures
ORPHA:65	IFT140	9742	HP:0001141	Severe visual impairment
ORPHA:65	IFT140	9742	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	IFT140	9742	HP:0000639	Nystagmus
ORPHA:65	IFT140	9742	HP:0000563	Keratoconus
ORPHA:65	IFT140	9742	HP:0001252	Muscular hypotonia
ORPHA:65	IFT140	9742	HP:0000512	Abnormal electroretinogram
ORPHA:65	IFT140	9742	HP:0002269	Abnormality of neuronal migration
ORPHA:65	IFT140	9742	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	IFT140	9742	HP:0012795	Abnormality of the optic disc
ORPHA:65	IFT140	9742	HP:0002084	Encephalocele
ORPHA:65	IFT140	9742	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	IFT140	9742	HP:0000518	Cataract
ORPHA:65	TULP1	7287	HP:0001250	Seizures
ORPHA:65	TULP1	7287	HP:0001141	Severe visual impairment
ORPHA:65	TULP1	7287	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	TULP1	7287	HP:0000639	Nystagmus
ORPHA:65	TULP1	7287	HP:0000563	Keratoconus
ORPHA:65	TULP1	7287	HP:0001252	Muscular hypotonia
ORPHA:65	TULP1	7287	HP:0000512	Abnormal electroretinogram
ORPHA:65	TULP1	7287	HP:0002269	Abnormality of neuronal migration
ORPHA:65	TULP1	7287	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	TULP1	7287	HP:0012795	Abnormality of the optic disc
ORPHA:65	TULP1	7287	HP:0002084	Encephalocele
ORPHA:65	TULP1	7287	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	TULP1	7287	HP:0000518	Cataract
ORPHA:65	GUCY2D	3000	HP:0001250	Seizures
ORPHA:65	GUCY2D	3000	HP:0001141	Severe visual impairment
ORPHA:65	GUCY2D	3000	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	GUCY2D	3000	HP:0000639	Nystagmus
ORPHA:65	GUCY2D	3000	HP:0000563	Keratoconus
ORPHA:65	GUCY2D	3000	HP:0001252	Muscular hypotonia
ORPHA:65	GUCY2D	3000	HP:0000512	Abnormal electroretinogram
ORPHA:65	GUCY2D	3000	HP:0002269	Abnormality of neuronal migration
ORPHA:65	GUCY2D	3000	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	GUCY2D	3000	HP:0012795	Abnormality of the optic disc
ORPHA:65	GUCY2D	3000	HP:0002084	Encephalocele
ORPHA:65	GUCY2D	3000	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	GUCY2D	3000	HP:0000518	Cataract
ORPHA:65	CEP290	80184	HP:0001250	Seizures
ORPHA:65	CEP290	80184	HP:0001141	Severe visual impairment
ORPHA:65	CEP290	80184	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	CEP290	80184	HP:0000639	Nystagmus
ORPHA:65	CEP290	80184	HP:0000563	Keratoconus
ORPHA:65	CEP290	80184	HP:0001252	Muscular hypotonia
ORPHA:65	CEP290	80184	HP:0000512	Abnormal electroretinogram
ORPHA:65	CEP290	80184	HP:0002269	Abnormality of neuronal migration
ORPHA:65	CEP290	80184	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	CEP290	80184	HP:0012795	Abnormality of the optic disc
ORPHA:65	CEP290	80184	HP:0002084	Encephalocele
ORPHA:65	CEP290	80184	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	CEP290	80184	HP:0000518	Cataract
ORPHA:65	IQCB1	9657	HP:0001250	Seizures
ORPHA:65	IQCB1	9657	HP:0001141	Severe visual impairment
ORPHA:65	IQCB1	9657	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	IQCB1	9657	HP:0000639	Nystagmus
ORPHA:65	IQCB1	9657	HP:0000563	Keratoconus
ORPHA:65	IQCB1	9657	HP:0001252	Muscular hypotonia
ORPHA:65	IQCB1	9657	HP:0000512	Abnormal electroretinogram
ORPHA:65	IQCB1	9657	HP:0002269	Abnormality of neuronal migration
ORPHA:65	IQCB1	9657	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	IQCB1	9657	HP:0012795	Abnormality of the optic disc
ORPHA:65	IQCB1	9657	HP:0002084	Encephalocele
ORPHA:65	IQCB1	9657	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	IQCB1	9657	HP:0000518	Cataract
ORPHA:65	KCNJ13	3769	HP:0001250	Seizures
ORPHA:65	KCNJ13	3769	HP:0001141	Severe visual impairment
ORPHA:65	KCNJ13	3769	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	KCNJ13	3769	HP:0000639	Nystagmus
ORPHA:65	KCNJ13	3769	HP:0000563	Keratoconus
ORPHA:65	KCNJ13	3769	HP:0001252	Muscular hypotonia
ORPHA:65	KCNJ13	3769	HP:0000512	Abnormal electroretinogram
ORPHA:65	KCNJ13	3769	HP:0002269	Abnormality of neuronal migration
ORPHA:65	KCNJ13	3769	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	KCNJ13	3769	HP:0012795	Abnormality of the optic disc
ORPHA:65	KCNJ13	3769	HP:0002084	Encephalocele
ORPHA:65	KCNJ13	3769	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	KCNJ13	3769	HP:0000518	Cataract
ORPHA:65	CRB1	23418	HP:0001250	Seizures
ORPHA:65	CRB1	23418	HP:0001141	Severe visual impairment
ORPHA:65	CRB1	23418	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	CRB1	23418	HP:0000639	Nystagmus
ORPHA:65	CRB1	23418	HP:0000563	Keratoconus
ORPHA:65	CRB1	23418	HP:0001252	Muscular hypotonia
ORPHA:65	CRB1	23418	HP:0000512	Abnormal electroretinogram
ORPHA:65	CRB1	23418	HP:0002269	Abnormality of neuronal migration
ORPHA:65	CRB1	23418	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	CRB1	23418	HP:0012795	Abnormality of the optic disc
ORPHA:65	CRB1	23418	HP:0002084	Encephalocele
ORPHA:65	CRB1	23418	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	CRB1	23418	HP:0000518	Cataract
ORPHA:65	GDF6	392255	HP:0001250	Seizures
ORPHA:65	GDF6	392255	HP:0001141	Severe visual impairment
ORPHA:65	GDF6	392255	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	GDF6	392255	HP:0000639	Nystagmus
ORPHA:65	GDF6	392255	HP:0000563	Keratoconus
ORPHA:65	GDF6	392255	HP:0001252	Muscular hypotonia
ORPHA:65	GDF6	392255	HP:0000512	Abnormal electroretinogram
ORPHA:65	GDF6	392255	HP:0002269	Abnormality of neuronal migration
ORPHA:65	GDF6	392255	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	GDF6	392255	HP:0012795	Abnormality of the optic disc
ORPHA:65	GDF6	392255	HP:0002084	Encephalocele
ORPHA:65	GDF6	392255	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	GDF6	392255	HP:0000518	Cataract
ORPHA:65	RD3	343035	HP:0001250	Seizures
ORPHA:65	RD3	343035	HP:0001141	Severe visual impairment
ORPHA:65	RD3	343035	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	RD3	343035	HP:0000639	Nystagmus
ORPHA:65	RD3	343035	HP:0000563	Keratoconus
ORPHA:65	RD3	343035	HP:0001252	Muscular hypotonia
ORPHA:65	RD3	343035	HP:0000512	Abnormal electroretinogram
ORPHA:65	RD3	343035	HP:0002269	Abnormality of neuronal migration
ORPHA:65	RD3	343035	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	RD3	343035	HP:0012795	Abnormality of the optic disc
ORPHA:65	RD3	343035	HP:0002084	Encephalocele
ORPHA:65	RD3	343035	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	RD3	343035	HP:0000518	Cataract
ORPHA:65	CRX	1406	HP:0001250	Seizures
ORPHA:65	CRX	1406	HP:0001141	Severe visual impairment
ORPHA:65	CRX	1406	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	CRX	1406	HP:0000639	Nystagmus
ORPHA:65	CRX	1406	HP:0000563	Keratoconus
ORPHA:65	CRX	1406	HP:0001252	Muscular hypotonia
ORPHA:65	CRX	1406	HP:0000512	Abnormal electroretinogram
ORPHA:65	CRX	1406	HP:0002269	Abnormality of neuronal migration
ORPHA:65	CRX	1406	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	CRX	1406	HP:0012795	Abnormality of the optic disc
ORPHA:65	CRX	1406	HP:0002084	Encephalocele
ORPHA:65	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	CRX	1406	HP:0000518	Cataract
ORPHA:65	IMPDH1	3614	HP:0001250	Seizures
ORPHA:65	IMPDH1	3614	HP:0001141	Severe visual impairment
ORPHA:65	IMPDH1	3614	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	IMPDH1	3614	HP:0000639	Nystagmus
ORPHA:65	IMPDH1	3614	HP:0000563	Keratoconus
ORPHA:65	IMPDH1	3614	HP:0001252	Muscular hypotonia
ORPHA:65	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
ORPHA:65	IMPDH1	3614	HP:0002269	Abnormality of neuronal migration
ORPHA:65	IMPDH1	3614	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	IMPDH1	3614	HP:0012795	Abnormality of the optic disc
ORPHA:65	IMPDH1	3614	HP:0002084	Encephalocele
ORPHA:65	IMPDH1	3614	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	IMPDH1	3614	HP:0000518	Cataract
OMIM:603736	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:256840	CCT5	22948	HP:0001258	Spastic paraplegia
OMIM:256840	CCT5	22948	HP:0003431	Decreased motor nerve conduction velocity
OMIM:256840	CCT5	22948	HP:0003477	Peripheral axonal neuropathy
OMIM:256840	CCT5	22948	HP:0003621	Juvenile onset
OMIM:256840	CCT5	22948	HP:0003593	Infantile onset
OMIM:256840	CCT5	22948	HP:0003146	Hypocholesterolemia
OMIM:256840	CCT5	22948	HP:0001760	Abnormality of the foot
OMIM:256840	CCT5	22948	HP:0002936	Distal sensory impairment
OMIM:256840	CCT5	22948	HP:0002064	Spastic gait
OMIM:256840	CCT5	22948	HP:0002169	Clonus
OMIM:256840	CCT5	22948	HP:0006827	Atrophy of the spinal cord
OMIM:256840	CCT5	22948	HP:0000007	Autosomal recessive inheritance
OMIM:256840	CCT5	22948	HP:0001226	Acral ulceration and osteomyelitis leading to autoamputation of digits
OMIM:256840	CCT5	22948	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:256840	CCT5	22948	HP:0003693	Distal amyotrophy
OMIM:256840	CCT5	22948	HP:0003487	Babinski sign
OMIM:256840	CCT5	22948	HP:0006984	Distal sensory loss of all modalities
OMIM:109150	ATXN3	4287	HP:0003693	Distal amyotrophy
OMIM:109150	ATXN3	4287	HP:0002171	Gliosis
OMIM:109150	ATXN3	4287	HP:0000726	Dementia
OMIM:109150	ATXN3	4287	HP:0003438	Absent Achilles reflex
OMIM:109150	ATXN3	4287	HP:0002172	Postural instability
OMIM:109150	ATXN3	4287	HP:0003487	Babinski sign
OMIM:109150	ATXN3	4287	HP:0000508	Ptosis
OMIM:109150	ATXN3	4287	HP:0001272	Cerebellar atrophy
OMIM:109150	ATXN3	4287	HP:0002067	Bradykinesia
OMIM:109150	ATXN3	4287	HP:0002198	Dilated fourth ventricle
OMIM:109150	ATXN3	4287	HP:0001151	Impaired horizontal smooth pursuit
OMIM:109150	ATXN3	4287	HP:0030454	Abnormal electrooculogram
OMIM:109150	ATXN3	4287	HP:0002073	Progressive cerebellar ataxia
OMIM:109150	ATXN3	4287	HP:0003394	Muscle cramps
OMIM:109150	ATXN3	4287	HP:0003676	Progressive
OMIM:109150	ATXN3	4287	HP:0000623	Supranuclear ophthalmoplegia
OMIM:109150	ATXN3	4287	HP:0000006	Autosomal dominant inheritance
OMIM:109150	ATXN3	4287	HP:0002495	Impaired vibratory sensation
OMIM:109150	ATXN3	4287	HP:0002503	Spinocerebellar tract degeneration
OMIM:109150	ATXN3	4287	HP:0007089	Facial-lingual fasciculations
OMIM:109150	ATXN3	4287	HP:0002015	Dysphagia
OMIM:109150	ATXN3	4287	HP:0003743	Genetic anticipation
OMIM:109150	ATXN3	4287	HP:0000520	Proptosis
OMIM:109150	ATXN3	4287	HP:0002078	Truncal ataxia
OMIM:109150	ATXN3	4287	HP:0000651	Diplopia
OMIM:109150	ATXN3	4287	HP:0000641	Dysmetric saccades
OMIM:109150	ATXN3	4287	HP:0002070	Limb ataxia
OMIM:109150	ATXN3	4287	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:109150	ATXN3	4287	HP:0012532	Chronic pain
OMIM:109150	ATXN3	4287	HP:0002063	Rigidity
OMIM:602361	FAM111A	63901	HP:0003015	Flared metaphysis
OMIM:602361	FAM111A	63901	HP:0002901	Hypocalcemia
OMIM:602361	FAM111A	63901	HP:0001508	Failure to thrive
OMIM:602361	FAM111A	63901	HP:0000054	Micropenis
OMIM:602361	FAM111A	63901	HP:0010296	Ankyloglossia
OMIM:602361	FAM111A	63901	HP:0000006	Autosomal dominant inheritance
OMIM:602361	FAM111A	63901	HP:0006270	Hypoplastic spleen
OMIM:602361	FAM111A	63901	HP:0001156	Brachydactyly
OMIM:602361	FAM111A	63901	HP:0004322	Short stature
OMIM:602361	FAM111A	63901	HP:0001541	Ascites
OMIM:602361	FAM111A	63901	HP:0000526	Aniridia
OMIM:602361	FAM111A	63901	HP:0001250	Seizures
OMIM:602361	FAM111A	63901	HP:0001263	Global developmental delay
OMIM:602361	FAM111A	63901	HP:0000238	Hydrocephalus
OMIM:602361	FAM111A	63901	HP:0003100	Slender long bone
OMIM:602361	FAM111A	63901	HP:0000568	Microphthalmia
OMIM:602361	FAM111A	63901	HP:0011220	Prominent forehead
OMIM:611383	WHRN	25861	HP:0000365	Hearing impairment
OMIM:611383	WHRN	25861	HP:0000510	Rod-cone dystrophy
OMIM:611383	WHRN	25861	HP:0000007	Autosomal recessive inheritance
OMIM:300695	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300695	FHL1	2273	HP:0001423	X-linked dominant inheritance
OMIM:300695	FHL1	2273	HP:0003202	Skeletal muscle atrophy
OMIM:300695	FHL1	2273	HP:0003376	Steppage gait
OMIM:300695	FHL1	2273	HP:0003691	Scapular winging
OMIM:300695	FHL1	2273	HP:0007340	Lower limb muscle weakness
OMIM:300695	FHL1	2273	HP:0003581	Adult onset
OMIM:300695	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:300695	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300695	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300695	FHL1	2273	HP:0003715	Myofibrillar myopathy
OMIM:300695	FHL1	2273	HP:0011675	Arrhythmia
OMIM:300695	FHL1	2273	HP:0002515	Waddling gait
OMIM:300695	FHL1	2273	HP:0009027	Foot dorsiflexor weakness
OMIM:300695	FHL1	2273	HP:0009054	Scapuloperoneal myopathy
OMIM:614302	TMEM43	79188	HP:0003581	Adult onset
OMIM:614302	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:614302	TMEM43	79188	HP:0007126	Proximal amyotrophy
OMIM:614302	TMEM43	79188	HP:0003677	Slow progression
OMIM:614302	TMEM43	79188	HP:0000467	Neck muscle weakness
OMIM:614302	TMEM43	79188	HP:0001662	Bradycardia
OMIM:614302	TMEM43	79188	HP:0003701	Proximal muscle weakness
OMIM:614302	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:614302	TMEM43	79188	HP:0005110	Atrial fibrillation
ORPHA:79239	GALT	2592	HP:0001824	Weight loss
ORPHA:79239	GALT	2592	HP:0004915	Impairment of galactose metabolism
ORPHA:79239	GALT	2592	HP:0001399	Hepatic failure
ORPHA:79239	GALT	2592	HP:0011098	Speech apraxia
ORPHA:79239	GALT	2592	HP:0001892	Abnormal bleeding
ORPHA:79239	GALT	2592	HP:0002017	Nausea and vomiting
ORPHA:79239	GALT	2592	HP:0001249	Intellectual disability
ORPHA:79239	GALT	2592	HP:0000939	Osteoporosis
ORPHA:79239	GALT	2592	HP:0001943	Hypoglycemia
ORPHA:79239	GALT	2592	HP:0000137	Abnormality of the ovary
ORPHA:79239	GALT	2592	HP:0000952	Jaundice
ORPHA:79239	GALT	2592	HP:0009088	Speech articulation difficulties
ORPHA:79239	GALT	2592	HP:0011968	Feeding difficulties
ORPHA:79239	GALT	2592	HP:0000868	Decreased fertility in females
ORPHA:79239	GALT	2592	HP:0000518	Cataract
ORPHA:79239	GALT	2592	HP:0001508	Failure to thrive
OMIM:610019	FYCO1	79443	HP:0000518	Cataract
OMIM:610019	FYCO1	79443	HP:0000007	Autosomal recessive inheritance
OMIM:309585	LAS1L	81887	HP:0000248	Brachycephaly
OMIM:309585	LAS1L	81887	HP:0001182	Tapered finger
OMIM:309585	LAS1L	81887	HP:0000028	Cryptorchidism
OMIM:309585	LAS1L	81887	HP:0000823	Delayed puberty
OMIM:309585	LAS1L	81887	HP:0001252	Muscular hypotonia
OMIM:309585	LAS1L	81887	HP:0001423	X-linked dominant inheritance
OMIM:309585	LAS1L	81887	HP:0001761	Pes cavus
OMIM:309585	LAS1L	81887	HP:0001263	Global developmental delay
OMIM:309585	LAS1L	81887	HP:0000135	Hypogonadism
OMIM:309585	LAS1L	81887	HP:0000712	Emotional lability
OMIM:309585	LAS1L	81887	HP:0000692	Misalignment of teeth
OMIM:309585	LAS1L	81887	HP:0000455	Broad nasal tip
OMIM:309585	LAS1L	81887	HP:0001763	Pes planus
OMIM:309585	LAS1L	81887	HP:0001249	Intellectual disability
OMIM:309585	LAS1L	81887	HP:0002808	Kyphosis
OMIM:309585	LAS1L	81887	HP:0004322	Short stature
OMIM:309585	LAS1L	81887	HP:0000252	Microcephaly
OMIM:309585	LAS1L	81887	HP:0000490	Deeply set eye
OMIM:309585	LAS1L	81887	HP:0000054	Micropenis
OMIM:309585	LAS1L	81887	HP:0001773	Short foot
OMIM:309585	LAS1L	81887	HP:0001419	X-linked recessive inheritance
OMIM:309585	LAS1L	81887	HP:0000574	Thick eyebrow
OMIM:309585	LAS1L	81887	HP:0000771	Gynecomastia
OMIM:309585	LAS1L	81887	HP:0400005	Short ear
OMIM:309585	LAS1L	81887	HP:0003199	Decreased muscle mass
OMIM:309585	LAS1L	81887	HP:0000750	Delayed speech and language development
OMIM:309585	LAS1L	81887	HP:0001956	Truncal obesity
OMIM:309585	LAS1L	81887	HP:0008734	Decreased testicular size
OMIM:309585	LAS1L	81887	HP:0000278	Retrognathia
OMIM:309585	LAS1L	81887	HP:0000336	Prominent supraorbital ridges
OMIM:309585	LAS1L	81887	HP:0200055	Small hand
OMIM:615558	APOB	338	HP:0001927	Acanthocytosis
OMIM:615558	APOB	338	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:615558	APOB	338	HP:0000546	Retinal degeneration
OMIM:615558	APOB	338	HP:0001251	Ataxia
OMIM:615558	APOB	338	HP:0000007	Autosomal recessive inheritance
OMIM:615558	APOB	338	HP:0001315	Reduced tendon reflexes
OMIM:615705	RUBCN	9711	HP:0001250	Seizures
OMIM:615705	RUBCN	9711	HP:0001270	Motor delay
OMIM:615705	RUBCN	9711	HP:0002317	Unsteady gait
OMIM:615705	RUBCN	9711	HP:0003676	Progressive
OMIM:615705	RUBCN	9711	HP:0001260	Dysarthria
OMIM:615705	RUBCN	9711	HP:0000007	Autosomal recessive inheritance
OMIM:615705	RUBCN	9711	HP:0001251	Ataxia
OMIM:615705	RUBCN	9711	HP:0001347	Hyperreflexia
OMIM:615705	RUBCN	9711	HP:0000639	Nystagmus
OMIM:615705	RUBCN	9711	HP:0001265	Hyporeflexia
OMIM:615705	RUBCN	9711	HP:0001249	Intellectual disability
OMIM:262190	INSR	3643	HP:0003074	Hyperglycemia
OMIM:262190	INSR	3643	HP:0008665	Clitoral hypertrophy
OMIM:262190	INSR	3643	HP:0003162	Fasting hypoglycemia
OMIM:262190	INSR	3643	HP:0001263	Global developmental delay
OMIM:262190	INSR	3643	HP:0006288	Advanced eruption of teeth
OMIM:262190	INSR	3643	HP:0000303	Mandibular prognathia
OMIM:262190	INSR	3643	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:262190	INSR	3643	HP:0000958	Dry skin
OMIM:262190	INSR	3643	HP:0001943	Hypoglycemia
OMIM:262190	INSR	3643	HP:0000007	Autosomal recessive inheritance
OMIM:262190	INSR	3643	HP:0000040	Long penis
OMIM:262190	INSR	3643	HP:0001953	Diabetic ketoacidosis
OMIM:262190	INSR	3643	HP:0000280	Coarse facial features
OMIM:262190	INSR	3643	HP:0000956	Acanthosis nigricans
OMIM:262190	INSR	3643	HP:0001518	Small for gestational age
OMIM:262190	INSR	3643	HP:0000842	Hyperinsulinemia
OMIM:262190	INSR	3643	HP:0012542	Onychauxis
OMIM:262190	INSR	3643	HP:0011998	Postprandial hyperglycemia
OMIM:262190	INSR	3643	HP:0004322	Short stature
OMIM:262190	INSR	3643	HP:0000218	High palate
OMIM:262190	INSR	3643	HP:0000826	Precocious puberty
OMIM:262190	INSR	3643	HP:0000998	Hypertrichosis
OMIM:609227	MLPH	79083	HP:0002218	Silver-gray hair
OMIM:609227	MLPH	79083	HP:0002227	White eyelashes
OMIM:609227	MLPH	79083	HP:0001425	Heterogeneous
OMIM:609227	MLPH	79083	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft
OMIM:609227	MLPH	79083	HP:0000007	Autosomal recessive inheritance
OMIM:248700	PIEZO2	63895	HP:0002365	Hypoplasia of the brainstem
OMIM:248700	PIEZO2	63895	HP:0002650	Scoliosis
OMIM:248700	PIEZO2	63895	HP:0000175	Cleft palate
OMIM:248700	PIEZO2	63895	HP:0000463	Anteverted nares
OMIM:248700	PIEZO2	63895	HP:0000581	Blepharophimosis
OMIM:248700	PIEZO2	63895	HP:0001762	Talipes equinovarus
OMIM:248700	PIEZO2	63895	HP:0000508	Ptosis
OMIM:248700	PIEZO2	63895	HP:0001274	Agenesis of corpus callosum
OMIM:248700	PIEZO2	63895	HP:0002044	Zollinger-Ellison syndrome
OMIM:248700	PIEZO2	63895	HP:0000316	Hypertelorism
OMIM:248700	PIEZO2	63895	HP:0000568	Microphthalmia
OMIM:248700	PIEZO2	63895	HP:0000028	Cryptorchidism
OMIM:248700	PIEZO2	63895	HP:0000054	Micropenis
OMIM:248700	PIEZO2	63895	HP:0001249	Intellectual disability
OMIM:248700	PIEZO2	63895	HP:0002705	High, narrow palate
OMIM:248700	PIEZO2	63895	HP:0000089	Renal hypoplasia
OMIM:248700	PIEZO2	63895	HP:0000343	Long philtrum
OMIM:248700	PIEZO2	63895	HP:0001651	Dextrocardia
OMIM:248700	PIEZO2	63895	HP:0000007	Autosomal recessive inheritance
OMIM:248700	PIEZO2	63895	HP:0003199	Decreased muscle mass
OMIM:248700	PIEZO2	63895	HP:0002089	Pulmonary hypoplasia
OMIM:248700	PIEZO2	63895	HP:0001166	Arachnodactyly
OMIM:248700	PIEZO2	63895	HP:0000347	Micrognathia
OMIM:248700	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:248700	PIEZO2	63895	HP:0001321	Cerebellar hypoplasia
OMIM:248700	PIEZO2	63895	HP:0000260	Wide anterior fontanel
OMIM:248700	PIEZO2	63895	HP:0007068	Inferior vermis hypoplasia
OMIM:248700	PIEZO2	63895	HP:0000252	Microcephaly
OMIM:248700	PIEZO2	63895	HP:0002803	Congenital contracture
OMIM:248700	PIEZO2	63895	HP:0001511	Intrauterine growth retardation
OMIM:248700	PIEZO2	63895	HP:0001250	Seizures
OMIM:248700	PIEZO2	63895	HP:0000006	Autosomal dominant inheritance
OMIM:248700	PIEZO2	63895	HP:0000486	Strabismus
OMIM:248700	PIEZO2	63895	HP:0002021	Pyloric stenosis
OMIM:248700	PIEZO2	63895	HP:0000160	Narrow mouth
OMIM:248700	PIEZO2	63895	HP:0009473	Joint contracture of the hand
OMIM:248700	PIEZO2	63895	HP:0000766	Abnormality of the sternum
OMIM:248700	PIEZO2	63895	HP:0001305	Dandy-Walker malformation
OMIM:248700	PIEZO2	63895	HP:0005329	Fixed facial expression
OMIM:248700	PIEZO2	63895	HP:0002808	Kyphosis
OMIM:248700	PIEZO2	63895	HP:0001290	Generalized hypotonia
OMIM:248700	PIEZO2	63895	HP:0012385	Camptodactyly
OMIM:248700	PIEZO2	63895	HP:0008897	Postnatal growth retardation
OMIM:248700	PIEZO2	63895	HP:0000023	Inguinal hernia
OMIM:248700	PIEZO2	63895	HP:0000470	Short neck
OMIM:248700	PIEZO2	63895	HP:0000047	Hypospadias
OMIM:248700	PIEZO2	63895	HP:0000369	Low-set ears
OMIM:248700	PIEZO2	63895	HP:0002974	Radioulnar synostosis
OMIM:248700	PIEZO2	63895	HP:0002476	Primitive reflex
OMIM:146200	PTH	5741	HP:0002514	Cerebral calcification
OMIM:146200	PTH	5741	HP:0000829	Hypoparathyroidism
OMIM:146200	PTH	5741	HP:0000518	Cataract
OMIM:146200	PTH	5741	HP:0002905	Hyperphosphatemia
OMIM:146200	PTH	5741	HP:0001250	Seizures
OMIM:146200	PTH	5741	HP:0000006	Autosomal dominant inheritance
OMIM:146200	PTH	5741	HP:0002901	Hypocalcemia
OMIM:146200	PTH	5741	HP:0001281	Tetany
OMIM:146200	GCM2	9247	HP:0002514	Cerebral calcification
OMIM:146200	GCM2	9247	HP:0000829	Hypoparathyroidism
OMIM:146200	GCM2	9247	HP:0000518	Cataract
OMIM:146200	GCM2	9247	HP:0002905	Hyperphosphatemia
OMIM:146200	GCM2	9247	HP:0001250	Seizures
OMIM:146200	GCM2	9247	HP:0000006	Autosomal dominant inheritance
OMIM:146200	GCM2	9247	HP:0002901	Hypocalcemia
OMIM:146200	GCM2	9247	HP:0001281	Tetany
OMIM:155255	PTCH2	8643	HP:0000007	Autosomal recessive inheritance
OMIM:155255	PTCH2	8643	HP:0003829	Incomplete penetrance
OMIM:155255	PTCH2	8643	HP:0002885	Medulloblastoma
OMIM:155255	PTCH2	8643	HP:0000006	Autosomal dominant inheritance
OMIM:155255	SUFU	51684	HP:0000007	Autosomal recessive inheritance
OMIM:155255	SUFU	51684	HP:0003829	Incomplete penetrance
OMIM:155255	SUFU	51684	HP:0002885	Medulloblastoma
OMIM:155255	SUFU	51684	HP:0000006	Autosomal dominant inheritance
OMIM:155255	CTNNB1	1499	HP:0000007	Autosomal recessive inheritance
OMIM:155255	CTNNB1	1499	HP:0003829	Incomplete penetrance
OMIM:155255	CTNNB1	1499	HP:0002885	Medulloblastoma
OMIM:155255	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
ORPHA:52429	EYA1	2138	HP:0004467	Preauricular pit
ORPHA:52429	EYA1	2138	HP:0000413	Atresia of the external auditory canal
ORPHA:52429	EYA1	2138	HP:0009795	Branchial fistula
ORPHA:52429	EYA1	2138	HP:0000405	Conductive hearing impairment
ORPHA:52429	EYA1	2138	HP:0008609	Morphological abnormality of the middle ear
ORPHA:52429	EYA1	2138	HP:0000407	Sensorineural hearing impairment
ORPHA:52429	SIX1	6495	HP:0004467	Preauricular pit
ORPHA:52429	SIX1	6495	HP:0000413	Atresia of the external auditory canal
ORPHA:52429	SIX1	6495	HP:0009795	Branchial fistula
ORPHA:52429	SIX1	6495	HP:0000405	Conductive hearing impairment
ORPHA:52429	SIX1	6495	HP:0008609	Morphological abnormality of the middle ear
ORPHA:52429	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:171400	RET	5979	HP:0003528	Elevated calcitonin
OMIM:171400	RET	5979	HP:0003639	Elevated urinary epinephrine
OMIM:171400	RET	5979	HP:0002897	Parathyroid adenoma
OMIM:171400	RET	5979	HP:0000822	Hypertension
OMIM:171400	RET	5979	HP:0001574	Abnormality of the integument
OMIM:171400	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:171400	RET	5979	HP:0002666	Pheochromocytoma
OMIM:171400	RET	5979	HP:0000843	Hyperparathyroidism
OMIM:171400	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:171400	RET	5979	HP:0002865	Medullary thyroid carcinoma
OMIM:171400	RET	5979	HP:0003118	Increased circulating cortisol level
OMIM:254940	MYMK	389827	HP:0010628	Facial palsy
OMIM:254940	MYMK	389827	HP:0012246	Oculomotor nerve palsy
OMIM:254940	MYMK	389827	HP:0000252	Microcephaly
OMIM:254940	MYMK	389827	HP:0000286	Epicanthus
OMIM:254940	MYMK	389827	HP:0000347	Micrognathia
OMIM:254940	MYMK	389827	HP:0002015	Dysphagia
OMIM:254940	MYMK	389827	HP:0000463	Anteverted nares
OMIM:254940	MYMK	389827	HP:0000494	Downslanted palpebral fissures
OMIM:254940	MYMK	389827	HP:0001357	Plagiocephaly
OMIM:254940	MYMK	389827	HP:0000007	Autosomal recessive inheritance
OMIM:254940	MYMK	389827	HP:0001508	Failure to thrive
OMIM:254940	MYMK	389827	HP:0001671	Abnormality of the cardiac septa
OMIM:254940	MYMK	389827	HP:0003198	Myopathy
OMIM:254940	MYMK	389827	HP:0000278	Retrognathia
OMIM:254940	MYMK	389827	HP:0001762	Talipes equinovarus
OMIM:254940	MYMK	389827	HP:0000162	Glossoptosis
OMIM:254940	MYMK	389827	HP:0000175	Cleft palate
OMIM:254940	MYMK	389827	HP:0001182	Tapered finger
OMIM:254940	MYMK	389827	HP:0000602	Ophthalmoplegia
OMIM:254940	MYMK	389827	HP:0000201	Pierre-Robin sequence
OMIM:254940	MYMK	389827	HP:0000256	Macrocephaly
OMIM:254940	MYMK	389827	HP:0001371	Flexion contracture
OMIM:254940	MYMK	389827	HP:0001558	Decreased fetal movement
OMIM:254940	MYMK	389827	HP:0005280	Depressed nasal bridge
OMIM:254940	MYMK	389827	HP:0000508	Ptosis
OMIM:254940	MYMK	389827	HP:0002119	Ventriculomegaly
OMIM:254940	MYMK	389827	HP:0006829	Severe muscular hypotonia
OMIM:254940	MYMK	389827	HP:0002365	Hypoplasia of the brainstem
OMIM:254940	MYMK	389827	HP:0002020	Gastroesophageal reflux
OMIM:254940	MYMK	389827	HP:0001510	Growth delay
OMIM:254940	MYMK	389827	HP:0000211	Trismus
OMIM:254940	MYMK	389827	HP:0011968	Feeding difficulties
OMIM:254940	MYMK	389827	HP:0002093	Respiratory insufficiency
OMIM:240300	AIRE	326	HP:0000829	Hypoparathyroidism
OMIM:240300	AIRE	326	HP:0001096	Keratoconjunctivitis
OMIM:240300	AIRE	326	HP:0001746	Asplenia
OMIM:240300	AIRE	326	HP:0200120	Chronic active hepatitis
OMIM:240300	AIRE	326	HP:0100651	Type I diabetes mellitus
OMIM:240300	AIRE	326	HP:0000819	Diabetes mellitus
OMIM:240300	AIRE	326	HP:0002014	Diarrhea
OMIM:240300	AIRE	326	HP:0002582	Chronic atrophic gastritis
OMIM:240300	AIRE	326	HP:0006297	Hypoplasia of dental enamel
OMIM:240300	AIRE	326	HP:0001081	Cholelithiasis
OMIM:240300	AIRE	326	HP:0001903	Anemia
OMIM:240300	AIRE	326	HP:0004319	Decreased circulating aldosterone level
OMIM:240300	AIRE	326	HP:0000134	Female hypogonadism
OMIM:240300	AIRE	326	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:240300	AIRE	326	HP:0000006	Autosomal dominant inheritance
OMIM:240300	AIRE	326	HP:0002024	Malabsorption
OMIM:240300	AIRE	326	HP:0001596	Alopecia
OMIM:240300	AIRE	326	HP:0000007	Autosomal recessive inheritance
OMIM:240300	AIRE	326	HP:0007663	Reduced visual acuity
OMIM:240300	AIRE	326	HP:0000580	Pigmentary retinopathy
OMIM:240300	AIRE	326	HP:0003621	Juvenile onset
OMIM:240300	AIRE	326	HP:0001133	Constriction of peripheral visual field
OMIM:240300	AIRE	326	HP:0001045	Vitiligo
OMIM:153100	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:153100	FLT4	2324	HP:0003759	Hypoplasia of lymphatic vessels
OMIM:153100	FLT4	2324	HP:0001028	Hemangioma
OMIM:153100	FLT4	2324	HP:0007448	Hyperkeratosis over edematous areas
OMIM:153100	FLT4	2324	HP:0000034	Hydrocele testis
OMIM:153100	FLT4	2324	HP:0001560	Abnormality of the amniotic fluid
OMIM:153100	FLT4	2324	HP:0003577	Congenital onset
OMIM:153100	FLT4	2324	HP:0001790	Nonimmune hydrops fetalis
OMIM:153100	FLT4	2324	HP:0003550	Predominantly lower limb lymphedema
OMIM:153100	FLT4	2324	HP:0001597	Abnormality of the nail
OMIM:241080	DCAF17	80067	HP:0040171	Decreased serum testosterone level
OMIM:241080	DCAF17	80067	HP:0000054	Micropenis
OMIM:241080	DCAF17	80067	HP:0000815	Hypergonadotropic hypogonadism
OMIM:241080	DCAF17	80067	HP:0008209	Premature ovarian insufficiency
OMIM:241080	DCAF17	80067	HP:0003812	Phenotypic variability
OMIM:241080	DCAF17	80067	HP:0001249	Intellectual disability
OMIM:241080	DCAF17	80067	HP:0030353	Decreased serum insulin-like growth factor 1
OMIM:241080	DCAF17	80067	HP:0001596	Alopecia
OMIM:241080	DCAF17	80067	HP:0000407	Sensorineural hearing impairment
OMIM:241080	DCAF17	80067	HP:0001266	Choreoathetosis
OMIM:241080	DCAF17	80067	HP:0000007	Autosomal recessive inheritance
OMIM:241080	DCAF17	80067	HP:0002213	Fine hair
OMIM:241080	DCAF17	80067	HP:0002925	Increased thyroid-stimulating hormone level
OMIM:241080	DCAF17	80067	HP:0000819	Diabetes mellitus
OMIM:241080	DCAF17	80067	HP:0000013	Hypoplasia of the uterus
OMIM:241080	DCAF17	80067	HP:0001332	Dystonia
OMIM:241080	DCAF17	80067	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:241080	DCAF17	80067	HP:0008070	Sparse hair
OMIM:241080	DCAF17	80067	HP:0008734	Decreased testicular size
OMIM:241080	DCAF17	80067	HP:0001260	Dysarthria
OMIM:241080	DCAF17	80067	HP:0003077	Hyperlipidemia
OMIM:241080	DCAF17	80067	HP:0008697	Hypoplasia of the fallopian tube
OMIM:241080	DCAF17	80067	HP:0005135	Abnormal T-wave
OMIM:241080	DCAF17	80067	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:616111	UQCC3	790955	HP:0001510	Growth delay
OMIM:616111	UQCC3	790955	HP:0011968	Feeding difficulties
OMIM:616111	UQCC3	790955	HP:0003577	Congenital onset
OMIM:616111	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:616111	UQCC3	790955	HP:0003128	Lactic acidosis
OMIM:616111	UQCC3	790955	HP:0001290	Generalized hypotonia
OMIM:616111	UQCC3	790955	HP:0001943	Hypoglycemia
OMIM:616111	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:616111	UQCC3	790955	HP:0002151	Increased serum lactate
ORPHA:990	PRRX1	5396	HP:0000160	Narrow mouth
ORPHA:990	PRRX1	5396	HP:0008736	Hypoplasia of penis
ORPHA:990	PRRX1	5396	HP:0001274	Agenesis of corpus callosum
ORPHA:990	PRRX1	5396	HP:0001291	Abnormality of the cranial nerves
ORPHA:990	PRRX1	5396	HP:0001696	Situs inversus totalis
ORPHA:990	PRRX1	5396	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:990	PRRX1	5396	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:990	PRRX1	5396	HP:0001360	Holoprosencephaly
ORPHA:990	PRRX1	5396	HP:0100596	Absent nares
ORPHA:990	PRRX1	5396	HP:0009914	Cyclopia
ORPHA:990	PRRX1	5396	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:990	PRRX1	5396	HP:0000171	Microglossia
ORPHA:990	PRRX1	5396	HP:0011386	Narrow internal auditory canal
ORPHA:990	PRRX1	5396	HP:0009939	Mandibular aplasia
ORPHA:990	PRRX1	5396	HP:0002098	Respiratory distress
ORPHA:990	PRRX1	5396	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:990	PRRX1	5396	HP:0001561	Polyhydramnios
ORPHA:990	PRRX1	5396	HP:0100663	Synotia
ORPHA:990	OTX2	5015	HP:0000160	Narrow mouth
ORPHA:990	OTX2	5015	HP:0008736	Hypoplasia of penis
ORPHA:990	OTX2	5015	HP:0001274	Agenesis of corpus callosum
ORPHA:990	OTX2	5015	HP:0001291	Abnormality of the cranial nerves
ORPHA:990	OTX2	5015	HP:0001696	Situs inversus totalis
ORPHA:990	OTX2	5015	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHA:990	OTX2	5015	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:990	OTX2	5015	HP:0001360	Holoprosencephaly
ORPHA:990	OTX2	5015	HP:0100596	Absent nares
ORPHA:990	OTX2	5015	HP:0009914	Cyclopia
ORPHA:990	OTX2	5015	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:990	OTX2	5015	HP:0000171	Microglossia
ORPHA:990	OTX2	5015	HP:0011386	Narrow internal auditory canal
ORPHA:990	OTX2	5015	HP:0009939	Mandibular aplasia
ORPHA:990	OTX2	5015	HP:0002098	Respiratory distress
ORPHA:990	OTX2	5015	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:990	OTX2	5015	HP:0001561	Polyhydramnios
ORPHA:990	OTX2	5015	HP:0100663	Synotia
OMIM:608266	CDC73	79577	HP:0000006	Autosomal dominant inheritance
OMIM:608266	CDC73	79577	HP:0001428	Somatic mutation
OMIM:608266	CDC73	79577	HP:0006780	Parathyroid carcinoma
OMIM:608266	CDC73	79577	HP:0003072	Hypercalcemia
OMIM:608266	CDC73	79577	HP:0000843	Hyperparathyroidism
OMIM:612356	SERPIND1	3053	HP:0005521	Disseminated intravascular coagulation
OMIM:612356	SERPIND1	3053	HP:0000006	Autosomal dominant inheritance
OMIM:612356	SERPIND1	3053	HP:0004761	Post-angioplasty coronary artery restenosis
OMIM:612356	SERPIND1	3053	HP:0004850	Recurrent deep vein thrombosis
OMIM:600858	PRKAG2	51422	HP:0001688	Sinus bradycardia
OMIM:600858	PRKAG2	51422	HP:0001670	Asymmetric septal hypertrophy
OMIM:600858	PRKAG2	51422	HP:0001678	Atrioventricular block
OMIM:600858	PRKAG2	51422	HP:0001639	Hypertrophic cardiomyopathy
OMIM:600858	PRKAG2	51422	HP:0005110	Atrial fibrillation
OMIM:600858	PRKAG2	51422	HP:0004309	Ventricular preexcitation
OMIM:600858	PRKAG2	51422	HP:0001716	Wolff-Parkinson-White syndrome
OMIM:600858	PRKAG2	51422	HP:0000006	Autosomal dominant inheritance
OMIM:600858	PRKAG2	51422	HP:0011713	Left bundle branch block
OMIM:600858	PRKAG2	51422	HP:0001425	Heterogeneous
OMIM:108721	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:108721	FLNB	2317	HP:0002650	Scoliosis
OMIM:108721	FLNB	2317	HP:0000175	Cleft palate
OMIM:108721	FLNB	2317	HP:0000327	Hypoplasia of the maxilla
OMIM:108721	FLNB	2317	HP:0002947	Cervical kyphosis
OMIM:108721	FLNB	2317	HP:0002007	Frontal bossing
OMIM:108721	FLNB	2317	HP:0006200	Widened distal phalanges
OMIM:108721	FLNB	2317	HP:0008905	Rhizomelia
OMIM:108721	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:108721	FLNB	2317	HP:0000470	Short neck
OMIM:108721	FLNB	2317	HP:0011800	Midface retrusion
OMIM:108721	FLNB	2317	HP:0004632	Cervical segmentation defect
OMIM:108721	FLNB	2317	HP:0002982	Tibial bowing
OMIM:108721	FLNB	2317	HP:0004976	Knee dislocation
OMIM:108721	FLNB	2317	HP:0000269	Prominent occiput
OMIM:108721	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:108721	FLNB	2317	HP:0003440	Horizontal sacrum
OMIM:108721	FLNB	2317	HP:0000347	Micrognathia
OMIM:108721	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:108721	FLNB	2317	HP:0002986	Radial bowing
OMIM:108721	FLNB	2317	HP:0000272	Malar flattening
OMIM:108721	FLNB	2317	HP:0006060	Tombstone-shaped proximal phalanges
OMIM:108721	FLNB	2317	HP:0001234	Hitchhiker thumb
OMIM:108721	FLNB	2317	HP:0001852	Sandal gap
OMIM:108721	FLNB	2317	HP:0003180	Flat acetabular roof
OMIM:614188	IL11RA	3590	HP:0004442	Sagittal craniosynostosis
OMIM:614188	IL11RA	3590	HP:0001085	Papilledema
OMIM:614188	IL11RA	3590	HP:0000327	Hypoplasia of the maxilla
OMIM:614188	IL11RA	3590	HP:0000684	Delayed eruption of teeth
OMIM:614188	IL11RA	3590	HP:0004440	Coronal craniosynostosis
OMIM:614188	IL11RA	3590	HP:0000007	Autosomal recessive inheritance
OMIM:215100	PEX7	5191	HP:0001371	Flexion contracture
OMIM:215100	PEX7	5191	HP:0008064	Ichthyosis
OMIM:215100	PEX7	5191	HP:0001250	Seizures
OMIM:215100	PEX7	5191	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215100	PEX7	5191	HP:0000407	Sensorineural hearing impairment
OMIM:215100	PEX7	5191	HP:0002007	Frontal bossing
OMIM:215100	PEX7	5191	HP:0002188	Delayed CNS myelination
OMIM:215100	PEX7	5191	HP:0008905	Rhizomelia
OMIM:215100	PEX7	5191	HP:0001525	Severe failure to thrive
OMIM:215100	PEX7	5191	HP:0003417	Coronal cleft vertebrae
OMIM:215100	PEX7	5191	HP:0001596	Alopecia
OMIM:215100	PEX7	5191	HP:0002093	Respiratory insufficiency
OMIM:215100	PEX7	5191	HP:0001257	Spasticity
OMIM:215100	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:215100	PEX7	5191	HP:0000272	Malar flattening
OMIM:215100	PEX7	5191	HP:0010655	Epiphyseal stippling
OMIM:215100	PEX7	5191	HP:0000252	Microcephaly
OMIM:215100	PEX7	5191	HP:0002120	Cerebral cortical atrophy
OMIM:215100	PEX7	5191	HP:0003510	Severe short stature
OMIM:215100	PEX7	5191	HP:0012368	Flat face
OMIM:215100	PEX7	5191	HP:0005280	Depressed nasal bridge
OMIM:215100	PEX7	5191	HP:0002751	Kyphoscoliosis
OMIM:215100	PEX7	5191	HP:0000347	Micrognathia
OMIM:215100	PEX7	5191	HP:0003015	Flared metaphysis
OMIM:215100	PEX7	5191	HP:0000175	Cleft palate
OMIM:215100	PEX7	5191	HP:0005841	Calcific stippling of infantile cartilaginous skeleton
OMIM:215100	PEX7	5191	HP:0000519	Congenital cataract
OMIM:215100	PEX7	5191	HP:0000582	Upslanted palpebral fissure
OMIM:215100	PEX7	5191	HP:0001249	Intellectual disability
OMIM:616559	SOS2	6655	HP:0000508	Ptosis
OMIM:616559	SOS2	6655	HP:0000470	Short neck
OMIM:616559	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:616559	SOS2	6655	HP:0000316	Hypertelorism
OMIM:616559	SOS2	6655	HP:0001680	Coarctation of aorta
OMIM:616559	SOS2	6655	HP:0004322	Short stature
OMIM:616559	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:616559	SOS2	6655	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	SOS2	6655	HP:0000465	Webbed neck
OMIM:616559	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:616559	SOS2	6655	HP:0002212	Curly hair
OMIM:616559	SOS2	6655	HP:0000535	Sparse and thin eyebrow
OMIM:616559	SOS2	6655	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:179800	SLC4A1	6521	HP:0000121	Nephrocalcinosis
OMIM:179800	SLC4A1	6521	HP:0001947	Renal tubular acidosis
OMIM:179800	SLC4A1	6521	HP:0008897	Postnatal growth retardation
OMIM:179800	SLC4A1	6521	HP:0002749	Osteomalacia
OMIM:179800	SLC4A1	6521	HP:0003768	Periodic paralysis
OMIM:179800	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:179800	SLC4A1	6521	HP:0002901	Hypocalcemia
OMIM:179800	SLC4A1	6521	HP:0008153	Periodic hypokalemic paresis
OMIM:179800	SLC4A1	6521	HP:0002756	Pathologic fracture
OMIM:613794	RPE65	6121	HP:0000639	Nystagmus
OMIM:613794	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613794	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613794	RPE65	6121	HP:0001141	Severe visual impairment
ORPHA:79332	B4GALT1	2683	HP:0000238	Hydrocephalus
ORPHA:79332	B4GALT1	2683	HP:0001305	Dandy-Walker malformation
ORPHA:79332	B4GALT1	2683	HP:0000256	Macrocephaly
ORPHA:79332	B4GALT1	2683	HP:0001252	Muscular hypotonia
ORPHA:79332	B4GALT1	2683	HP:0003198	Myopathy
ORPHA:79	SERPINF2	5345	HP:0001934	Persistent bleeding after trauma
ORPHA:79	SERPINF2	5345	HP:0000790	Hematuria
ORPHA:79	SERPINF2	5345	HP:0012151	Hemothorax
ORPHA:79	SERPINF2	5345	HP:0005261	Joint hemorrhage
ORPHA:79	SERPINF2	5345	HP:0040247	Reduced euglobulin clot lysis time
ORPHA:79	SERPINF2	5345	HP:0012233	Intramuscular hematoma
OMIM:219150	ALDH18A1	5832	HP:0007394	Prominent superficial blood vessels
OMIM:219150	ALDH18A1	5832	HP:0000518	Cataract
OMIM:219150	ALDH18A1	5832	HP:0000369	Low-set ears
OMIM:219150	ALDH18A1	5832	HP:0000963	Thin skin
OMIM:219150	ALDH18A1	5832	HP:0001374	Congenital hip dislocation
OMIM:219150	ALDH18A1	5832	HP:0000418	Narrow nasal ridge
OMIM:219150	ALDH18A1	5832	HP:0001537	Umbilical hernia
OMIM:219150	ALDH18A1	5832	HP:0001762	Talipes equinovarus
OMIM:219150	ALDH18A1	5832	HP:0003745	Sporadic
OMIM:219150	ALDH18A1	5832	HP:0000400	Macrotia
OMIM:219150	ALDH18A1	5832	HP:0001382	Joint hypermobility
OMIM:219150	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:219150	ALDH18A1	5832	HP:0000023	Inguinal hernia
OMIM:219150	ALDH18A1	5832	HP:0001290	Generalized hypotonia
OMIM:219150	ALDH18A1	5832	HP:0008070	Sparse hair
OMIM:219150	ALDH18A1	5832	HP:0000316	Hypertelorism
OMIM:219150	ALDH18A1	5832	HP:0000973	Cutis laxa
OMIM:219150	ALDH18A1	5832	HP:0001249	Intellectual disability
OMIM:219150	ALDH18A1	5832	HP:0001511	Intrauterine growth retardation
OMIM:219150	ALDH18A1	5832	HP:0002007	Frontal bossing
OMIM:219150	ALDH18A1	5832	HP:0002305	Athetosis
OMIM:219150	ALDH18A1	5832	HP:0000601	Hypotelorism
OMIM:219150	ALDH18A1	5832	HP:0000767	Pectus excavatum
OMIM:219150	ALDH18A1	5832	HP:0002750	Delayed skeletal maturation
OMIM:219150	ALDH18A1	5832	HP:0000007	Autosomal recessive inheritance
OMIM:219150	ALDH18A1	5832	HP:0000248	Brachycephaly
OMIM:219150	ALDH18A1	5832	HP:0001181	Adducted thumb
OMIM:219150	ALDH18A1	5832	HP:0001250	Seizures
OMIM:219150	ALDH18A1	5832	HP:0001084	Corneal arcus
OMIM:219150	ALDH18A1	5832	HP:0002645	Wormian bones
OMIM:219150	ALDH18A1	5832	HP:0003510	Severe short stature
OMIM:219150	ALDH18A1	5832	HP:0000486	Strabismus
OMIM:219150	ALDH18A1	5832	HP:0010537	Wide cranial sutures
OMIM:219150	ALDH18A1	5832	HP:0002650	Scoliosis
OMIM:219150	ALDH18A1	5832	HP:0000545	Myopia
OMIM:219150	ALDH18A1	5832	HP:0011220	Prominent forehead
OMIM:219150	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:219150	ALDH18A1	5832	HP:0000239	Large fontanelles
OMIM:219150	ALDH18A1	5832	HP:0001508	Failure to thrive
OMIM:219150	ALDH18A1	5832	HP:0000160	Narrow mouth
OMIM:610031	TUBB2B	347733	HP:0002307	Drooling
OMIM:610031	TUBB2B	347733	HP:0000007	Autosomal recessive inheritance
OMIM:610031	TUBB2B	347733	HP:0001250	Seizures
OMIM:610031	TUBB2B	347733	HP:0001263	Global developmental delay
OMIM:610031	TUBB2B	347733	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610031	TUBB2B	347733	HP:0001321	Cerebellar hypoplasia
OMIM:610031	TUBB2B	347733	HP:0001249	Intellectual disability
OMIM:610031	TUBB2B	347733	HP:0001270	Motor delay
OMIM:610031	TUBB2B	347733	HP:0001328	Specific learning disability
OMIM:610031	TUBB2B	347733	HP:0001269	Hemiparesis
OMIM:610031	TUBB2B	347733	HP:0001339	Lissencephaly
OMIM:610031	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:610031	TUBB2B	347733	HP:0003828	Variable expressivity
OMIM:610031	TUBB2B	347733	HP:0000252	Microcephaly
OMIM:610031	TUBB2B	347733	HP:0001274	Agenesis of corpus callosum
OMIM:610031	TUBB2B	347733	HP:0001302	Pachygyria
OMIM:610031	TUBB2B	347733	HP:0006927	Unilateral polymicrogyria
OMIM:610031	TUBB2B	347733	HP:0006930	Frontoparietal cortical dysplasia
OMIM:616973	GNB1	2782	HP:0001250	Seizures
OMIM:616973	GNB1	2782	HP:0001508	Failure to thrive
OMIM:616973	GNB1	2782	HP:0000006	Autosomal dominant inheritance
OMIM:616973	GNB1	2782	HP:0000639	Nystagmus
OMIM:616973	GNB1	2782	HP:0001263	Global developmental delay
OMIM:616973	GNB1	2782	HP:0002509	Limb hypertonia
OMIM:616973	GNB1	2782	HP:0003593	Infantile onset
OMIM:616973	GNB1	2782	HP:0000486	Strabismus
OMIM:616973	GNB1	2782	HP:0002353	EEG abnormality
OMIM:616973	GNB1	2782	HP:0007772	Impaired smooth pursuit
OMIM:616973	GNB1	2782	HP:0001290	Generalized hypotonia
OMIM:616973	GNB1	2782	HP:0001249	Intellectual disability
OMIM:616083	ZMYND11	10771	HP:0000316	Hypertelorism
OMIM:616083	ZMYND11	10771	HP:0001263	Global developmental delay
OMIM:616083	ZMYND11	10771	HP:0000508	Ptosis
OMIM:616083	ZMYND11	10771	HP:0000154	Wide mouth
OMIM:616083	ZMYND11	10771	HP:0000718	Aggressive behavior
OMIM:616083	ZMYND11	10771	HP:0001256	Intellectual disability, mild
OMIM:616083	ZMYND11	10771	HP:0001249	Intellectual disability
OMIM:616083	ZMYND11	10771	HP:0000750	Delayed speech and language development
OMIM:616083	ZMYND11	10771	HP:0000006	Autosomal dominant inheritance
OMIM:616083	ZMYND11	10771	HP:0001999	Abnormal facial shape
OMIM:614069	ZBTB24	9841	HP:0000286	Epicanthus
OMIM:614069	ZBTB24	9841	HP:0000278	Retrognathia
OMIM:614069	ZBTB24	9841	HP:0001249	Intellectual disability
OMIM:614069	ZBTB24	9841	HP:0000007	Autosomal recessive inheritance
OMIM:614069	ZBTB24	9841	HP:0002090	Pneumonia
OMIM:614069	ZBTB24	9841	HP:0002721	Immunodeficiency
OMIM:614069	ZBTB24	9841	HP:0001270	Motor delay
OMIM:614069	ZBTB24	9841	HP:0005280	Depressed nasal bridge
OMIM:614069	ZBTB24	9841	HP:0000331	Short chin
OMIM:614069	ZBTB24	9841	HP:0000218	High palate
OMIM:614069	ZBTB24	9841	HP:0001510	Growth delay
OMIM:614069	ZBTB24	9841	HP:0000316	Hypertelorism
OMIM:614069	ZBTB24	9841	HP:0000369	Low-set ears
OMIM:614069	ZBTB24	9841	HP:0000463	Anteverted nares
OMIM:614069	ZBTB24	9841	HP:0004469	Chronic bronchitis
OMIM:614069	ZBTB24	9841	HP:0004313	Decreased antibody level in blood
OMIM:614069	ZBTB24	9841	HP:0000311	Round face
OMIM:614069	ZBTB24	9841	HP:0003196	Short nose
OMIM:614069	ZBTB24	9841	HP:0003577	Congenital onset
OMIM:300842	XK	7504	HP:0000722	Obsessive-compulsive behavior
OMIM:300842	XK	7504	HP:0001927	Acanthocytosis
OMIM:300842	XK	7504	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300842	XK	7504	HP:0001417	X-linked inheritance
OMIM:300842	XK	7504	HP:0000716	Depressivity
OMIM:300842	XK	7504	HP:0001284	Areflexia
OMIM:300842	XK	7504	HP:0000739	Anxiety
OMIM:300842	XK	7504	HP:0012075	Personality disorder
OMIM:300842	XK	7504	HP:0002197	Generalized seizures
OMIM:300842	XK	7504	HP:0001324	Muscle weakness
OMIM:300842	XK	7504	HP:0001644	Dilated cardiomyopathy
OMIM:300842	XK	7504	HP:0005110	Atrial fibrillation
OMIM:300842	XK	7504	HP:0001260	Dysarthria
ORPHA:75840	COL12A1	1303	HP:0002987	Elbow flexion contracture
ORPHA:75840	COL12A1	1303	HP:0001238	Slender finger
ORPHA:75840	COL12A1	1303	HP:0001558	Decreased fetal movement
ORPHA:75840	COL12A1	1303	HP:0003324	Generalized muscle weakness
ORPHA:75840	COL12A1	1303	HP:0002808	Kyphosis
ORPHA:75840	COL12A1	1303	HP:0002878	Respiratory failure
ORPHA:75840	COL12A1	1303	HP:0000470	Short neck
ORPHA:75840	COL12A1	1303	HP:0009113	Diaphragmatic weakness
ORPHA:75840	COL12A1	1303	HP:0008081	Pes valgus
ORPHA:75840	COL12A1	1303	HP:0000565	Esotropia
ORPHA:75840	COL12A1	1303	HP:0005072	Hyperextensibility at wrists
ORPHA:75840	COL12A1	1303	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:75840	COL12A1	1303	HP:0003306	Spinal rigidity
ORPHA:75840	COL12A1	1303	HP:0000174	Abnormality of the palate
ORPHA:75840	COL12A1	1303	HP:0006380	Knee flexion contracture
ORPHA:75840	COL12A1	1303	HP:0002827	Hip dislocation
ORPHA:75840	COL12A1	1303	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:75840	COL12A1	1303	HP:0006149	Increased laxity of fingers
ORPHA:75840	COL12A1	1303	HP:0002359	Frequent falls
ORPHA:75840	COL12A1	1303	HP:0010511	Long toe
ORPHA:75840	COL12A1	1303	HP:0000473	Torticollis
ORPHA:75840	COL12A1	1303	HP:0000347	Micrognathia
ORPHA:75840	COL12A1	1303	HP:0002650	Scoliosis
ORPHA:75840	COL12A1	1303	HP:0001290	Generalized hypotonia
ORPHA:75840	COL12A1	1303	HP:0003458	EMG: myopathic abnormalities
ORPHA:75840	COL12A1	1303	HP:0100297	Increased endomysial connective tissue
ORPHA:75840	COL12A1	1303	HP:0001181	Adducted thumb
ORPHA:75840	COL12A1	1303	HP:0003700	Generalized amyotrophy
ORPHA:75840	COL6A1	1291	HP:0002987	Elbow flexion contracture
ORPHA:75840	COL6A1	1291	HP:0001238	Slender finger
ORPHA:75840	COL6A1	1291	HP:0001558	Decreased fetal movement
ORPHA:75840	COL6A1	1291	HP:0003324	Generalized muscle weakness
ORPHA:75840	COL6A1	1291	HP:0002808	Kyphosis
ORPHA:75840	COL6A1	1291	HP:0002878	Respiratory failure
ORPHA:75840	COL6A1	1291	HP:0000470	Short neck
ORPHA:75840	COL6A1	1291	HP:0009113	Diaphragmatic weakness
ORPHA:75840	COL6A1	1291	HP:0008081	Pes valgus
ORPHA:75840	COL6A1	1291	HP:0000565	Esotropia
ORPHA:75840	COL6A1	1291	HP:0005072	Hyperextensibility at wrists
ORPHA:75840	COL6A1	1291	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:75840	COL6A1	1291	HP:0003306	Spinal rigidity
ORPHA:75840	COL6A1	1291	HP:0000174	Abnormality of the palate
ORPHA:75840	COL6A1	1291	HP:0006380	Knee flexion contracture
ORPHA:75840	COL6A1	1291	HP:0002827	Hip dislocation
ORPHA:75840	COL6A1	1291	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:75840	COL6A1	1291	HP:0006149	Increased laxity of fingers
ORPHA:75840	COL6A1	1291	HP:0002359	Frequent falls
ORPHA:75840	COL6A1	1291	HP:0010511	Long toe
ORPHA:75840	COL6A1	1291	HP:0000473	Torticollis
ORPHA:75840	COL6A1	1291	HP:0000347	Micrognathia
ORPHA:75840	COL6A1	1291	HP:0002650	Scoliosis
ORPHA:75840	COL6A1	1291	HP:0001290	Generalized hypotonia
ORPHA:75840	COL6A1	1291	HP:0003458	EMG: myopathic abnormalities
ORPHA:75840	COL6A1	1291	HP:0100297	Increased endomysial connective tissue
ORPHA:75840	COL6A1	1291	HP:0001181	Adducted thumb
ORPHA:75840	COL6A1	1291	HP:0003700	Generalized amyotrophy
ORPHA:75840	COL6A2	1292	HP:0002987	Elbow flexion contracture
ORPHA:75840	COL6A2	1292	HP:0001238	Slender finger
ORPHA:75840	COL6A2	1292	HP:0001558	Decreased fetal movement
ORPHA:75840	COL6A2	1292	HP:0003324	Generalized muscle weakness
ORPHA:75840	COL6A2	1292	HP:0002808	Kyphosis
ORPHA:75840	COL6A2	1292	HP:0002878	Respiratory failure
ORPHA:75840	COL6A2	1292	HP:0000470	Short neck
ORPHA:75840	COL6A2	1292	HP:0009113	Diaphragmatic weakness
ORPHA:75840	COL6A2	1292	HP:0008081	Pes valgus
ORPHA:75840	COL6A2	1292	HP:0000565	Esotropia
ORPHA:75840	COL6A2	1292	HP:0005072	Hyperextensibility at wrists
ORPHA:75840	COL6A2	1292	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:75840	COL6A2	1292	HP:0003306	Spinal rigidity
ORPHA:75840	COL6A2	1292	HP:0000174	Abnormality of the palate
ORPHA:75840	COL6A2	1292	HP:0006380	Knee flexion contracture
ORPHA:75840	COL6A2	1292	HP:0002827	Hip dislocation
ORPHA:75840	COL6A2	1292	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:75840	COL6A2	1292	HP:0006149	Increased laxity of fingers
ORPHA:75840	COL6A2	1292	HP:0002359	Frequent falls
ORPHA:75840	COL6A2	1292	HP:0010511	Long toe
ORPHA:75840	COL6A2	1292	HP:0000473	Torticollis
ORPHA:75840	COL6A2	1292	HP:0000347	Micrognathia
ORPHA:75840	COL6A2	1292	HP:0002650	Scoliosis
ORPHA:75840	COL6A2	1292	HP:0001290	Generalized hypotonia
ORPHA:75840	COL6A2	1292	HP:0003458	EMG: myopathic abnormalities
ORPHA:75840	COL6A2	1292	HP:0100297	Increased endomysial connective tissue
ORPHA:75840	COL6A2	1292	HP:0001181	Adducted thumb
ORPHA:75840	COL6A2	1292	HP:0003700	Generalized amyotrophy
ORPHA:75840	COL6A3	1293	HP:0002987	Elbow flexion contracture
ORPHA:75840	COL6A3	1293	HP:0001238	Slender finger
ORPHA:75840	COL6A3	1293	HP:0001558	Decreased fetal movement
ORPHA:75840	COL6A3	1293	HP:0003324	Generalized muscle weakness
ORPHA:75840	COL6A3	1293	HP:0002808	Kyphosis
ORPHA:75840	COL6A3	1293	HP:0002878	Respiratory failure
ORPHA:75840	COL6A3	1293	HP:0000470	Short neck
ORPHA:75840	COL6A3	1293	HP:0009113	Diaphragmatic weakness
ORPHA:75840	COL6A3	1293	HP:0008081	Pes valgus
ORPHA:75840	COL6A3	1293	HP:0000565	Esotropia
ORPHA:75840	COL6A3	1293	HP:0005072	Hyperextensibility at wrists
ORPHA:75840	COL6A3	1293	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:75840	COL6A3	1293	HP:0003306	Spinal rigidity
ORPHA:75840	COL6A3	1293	HP:0000174	Abnormality of the palate
ORPHA:75840	COL6A3	1293	HP:0006380	Knee flexion contracture
ORPHA:75840	COL6A3	1293	HP:0002827	Hip dislocation
ORPHA:75840	COL6A3	1293	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:75840	COL6A3	1293	HP:0006149	Increased laxity of fingers
ORPHA:75840	COL6A3	1293	HP:0002359	Frequent falls
ORPHA:75840	COL6A3	1293	HP:0010511	Long toe
ORPHA:75840	COL6A3	1293	HP:0000473	Torticollis
ORPHA:75840	COL6A3	1293	HP:0000347	Micrognathia
ORPHA:75840	COL6A3	1293	HP:0002650	Scoliosis
ORPHA:75840	COL6A3	1293	HP:0001290	Generalized hypotonia
ORPHA:75840	COL6A3	1293	HP:0003458	EMG: myopathic abnormalities
ORPHA:75840	COL6A3	1293	HP:0100297	Increased endomysial connective tissue
ORPHA:75840	COL6A3	1293	HP:0001181	Adducted thumb
ORPHA:75840	COL6A3	1293	HP:0003700	Generalized amyotrophy
ORPHA:89843	COL7A1	1294	HP:0200036	Skin nodule
ORPHA:89843	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:89843	COL7A1	1294	HP:0008066	Abnormal blistering of the skin
ORPHA:89843	COL7A1	1294	HP:0001056	Milia
ORPHA:89843	COL7A1	1294	HP:0000989	Pruritus
ORPHA:89843	COL7A1	1294	HP:0200034	Papule
ORPHA:89843	COL7A1	1294	HP:0001030	Fragile skin
ORPHA:89843	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHA:89843	COL7A1	1294	HP:0000963	Thin skin
ORPHA:89843	COL7A1	1294	HP:0200037	Skin vesicle
OMIM:177735	NR3C2	4306	HP:0000848	Increased circulating renin level
OMIM:177735	NR3C2	4306	HP:0008242	Pseudohypoaldosteronism
OMIM:177735	NR3C2	4306	HP:0000859	Hyperaldosteronism
OMIM:177735	NR3C2	4306	HP:0001944	Dehydration
OMIM:177735	NR3C2	4306	HP:0002615	Hypotension
OMIM:177735	NR3C2	4306	HP:0002153	Hyperkalemia
OMIM:177735	NR3C2	4306	HP:0011968	Feeding difficulties
OMIM:177735	NR3C2	4306	HP:0001508	Failure to thrive
OMIM:177735	NR3C2	4306	HP:0003812	Phenotypic variability
OMIM:177735	NR3C2	4306	HP:0000841	Hyperactive renin-angiotensin system
OMIM:177735	NR3C2	4306	HP:0001942	Metabolic acidosis
OMIM:177735	NR3C2	4306	HP:0002902	Hyponatremia
OMIM:177735	NR3C2	4306	HP:0003593	Infantile onset
OMIM:177735	NR3C2	4306	HP:0002013	Vomiting
OMIM:177735	NR3C2	4306	HP:0002014	Diarrhea
OMIM:177735	NR3C2	4306	HP:0000006	Autosomal dominant inheritance
ORPHA:90024	FGF3	2248	HP:0000494	Downslanted palpebral fissures
ORPHA:90024	FGF3	2248	HP:0008551	Microtia
ORPHA:90024	FGF3	2248	HP:0001291	Abnormality of the cranial nerves
ORPHA:90024	FGF3	2248	HP:0000687	Widely spaced teeth
ORPHA:90024	FGF3	2248	HP:0000347	Micrognathia
ORPHA:90024	FGF3	2248	HP:0000407	Sensorineural hearing impairment
ORPHA:90024	FGF3	2248	HP:0000431	Wide nasal bridge
ORPHA:90024	FGF3	2248	HP:0000698	Conical tooth
ORPHA:90024	FGF3	2248	HP:0000276	Long face
ORPHA:90024	FGF3	2248	HP:0000307	Pointed chin
ORPHA:90024	FGF3	2248	HP:0000430	Underdeveloped nasal alae
ORPHA:90024	FGF3	2248	HP:0000691	Microdontia
ORPHA:90024	FGF3	2248	HP:0011372	Aplasia of the inner ear
OMIM:257320	RELN	5649	HP:0006891	Thick cerebral cortex
OMIM:257320	RELN	5649	HP:0006818	Type I lissencephaly
OMIM:257320	RELN	5649	HP:0000252	Microcephaly
OMIM:257320	RELN	5649	HP:0000340	Sloping forehead
OMIM:257320	RELN	5649	HP:0000007	Autosomal recessive inheritance
OMIM:257320	RELN	5649	HP:0000426	Prominent nasal bridge
OMIM:300400	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:300400	IL2RG	3561	HP:0007274	Recurrent bacterial meningitis
OMIM:300400	IL2RG	3561	HP:0009098	Chronic oral candidiasis
OMIM:300400	IL2RG	3561	HP:0002240	Hepatomegaly
OMIM:300400	IL2RG	3561	HP:0004432	Agammaglobulinemia
OMIM:300400	IL2RG	3561	HP:0002028	Chronic diarrhea
OMIM:300400	IL2RG	3561	HP:0001508	Failure to thrive
OMIM:300400	IL2RG	3561	HP:0000988	Skin rash
OMIM:300400	IL2RG	3561	HP:0000778	Hypoplasia of the thymus
OMIM:300400	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
OMIM:300400	IL2RG	3561	HP:0002090	Pneumonia
OMIM:300400	IL2RG	3561	HP:0002841	Recurrent fungal infections
OMIM:203700	POLG	5428	HP:0000649	Abnormality of visual evoked potentials
OMIM:203700	POLG	5428	HP:0001399	Hepatic failure
OMIM:203700	POLG	5428	HP:0000726	Dementia
OMIM:203700	POLG	5428	HP:0001414	Microvesicular hepatic steatosis
OMIM:203700	POLG	5428	HP:0002013	Vomiting
OMIM:203700	POLG	5428	HP:0002376	Developmental regression
OMIM:203700	POLG	5428	HP:0002922	Increased CSF protein
OMIM:203700	POLG	5428	HP:0002151	Increased serum lactate
OMIM:203700	POLG	5428	HP:0100704	Cortical visual impairment
OMIM:203700	POLG	5428	HP:0001508	Failure to thrive
OMIM:203700	POLG	5428	HP:0003535	3-Methylglutaconic aciduria
OMIM:203700	POLG	5428	HP:0003678	Rapidly progressive
OMIM:203700	POLG	5428	HP:0001276	Hypertonia
OMIM:203700	POLG	5428	HP:0006964	Cerebral cortical neurodegeneration
OMIM:203700	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:203700	POLG	5428	HP:0001413	Micronodular cirrhosis
OMIM:203700	POLG	5428	HP:0001290	Generalized hypotonia
OMIM:203700	POLG	5428	HP:0002446	Astrocytosis
OMIM:203700	POLG	5428	HP:0000572	Visual loss
OMIM:203700	POLG	5428	HP:0003219	Ethylmalonic aciduria
OMIM:203700	POLG	5428	HP:0001408	Bile duct proliferation
OMIM:203700	POLG	5428	HP:0002529	Neuronal loss in central nervous system
OMIM:203700	POLG	5428	HP:0002240	Hepatomegaly
OMIM:203700	POLG	5428	HP:0001336	Myoclonus
OMIM:203700	POLG	5428	HP:0002171	Gliosis
OMIM:203700	POLG	5428	HP:0002910	Elevated hepatic transaminases
OMIM:203700	POLG	5428	HP:0003470	Paralysis
OMIM:203700	POLG	5428	HP:0001263	Global developmental delay
OMIM:203700	POLG	5428	HP:0003593	Infantile onset
OMIM:203700	POLG	5428	HP:0001251	Ataxia
OMIM:203700	POLG	5428	HP:0001272	Cerebellar atrophy
OMIM:203700	POLG	5428	HP:0012847	Epilepsia partialis continua
OMIM:614135	COL9A1	1297	HP:0010582	Irregular epiphyses
OMIM:614135	COL9A1	1297	HP:0030041	Schmorl's node
OMIM:614135	COL9A1	1297	HP:0000006	Autosomal dominant inheritance
OMIM:614135	COL9A1	1297	HP:0002815	Abnormality of the knee
OMIM:614135	COL9A1	1297	HP:0003301	Irregular vertebral endplates
OMIM:614135	COL9A1	1297	HP:0006407	Irregular distal femoral epiphysis
OMIM:614135	COL9A1	1297	HP:0002829	Arthralgia
OMIM:614135	COL9A1	1297	HP:0002758	Osteoarthritis
OMIM:614135	COL9A1	1297	HP:0003365	Arthralgia of the hip
OMIM:614135	COL9A1	1297	HP:0006398	Flat distal femoral epiphysis
OMIM:614135	COL9A1	1297	HP:0003370	Flat capital femoral epiphysis
OMIM:614135	COL9A1	1297	HP:0010585	Small epiphyses
OMIM:614135	COL9A1	1297	HP:0002656	Epiphyseal dysplasia
OMIM:614135	COL9A1	1297	HP:0002654	Multiple epiphyseal dysplasia
OMIM:614135	COL9A1	1297	HP:0011463	Childhood onset
ORPHA:2822	SPG11	80208	HP:0001249	Intellectual disability
ORPHA:2822	SPG11	80208	HP:0002119	Ventriculomegaly
ORPHA:2822	SPG11	80208	HP:0001250	Seizures
ORPHA:2822	SPG11	80208	HP:0001260	Dysarthria
ORPHA:2822	SPG11	80208	HP:0000639	Nystagmus
ORPHA:2822	SPG11	80208	HP:0001251	Ataxia
ORPHA:2822	SPG11	80208	HP:0001258	Spastic paraplegia
ORPHA:2822	SPG11	80208	HP:0002120	Cerebral cortical atrophy
ORPHA:2822	SPG11	80208	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2822	SPG11	80208	HP:0001268	Mental deterioration
ORPHA:2822	SPG11	80208	HP:0001288	Gait disturbance
ORPHA:2822	SPG11	80208	HP:0001152	Saccadic smooth pursuit
OMIM:613243	TNNC1	7134	HP:0001663	Ventricular fibrillation
OMIM:613243	TNNC1	7134	HP:0100749	Chest pain
OMIM:613243	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613243	TNNC1	7134	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615629	TNC	3371	HP:0000365	Hearing impairment
OMIM:615629	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:616040	SYT2	127833	HP:0000006	Autosomal dominant inheritance
OMIM:616040	SYT2	127833	HP:0001284	Areflexia
OMIM:616040	SYT2	127833	HP:0001288	Gait disturbance
OMIM:616040	SYT2	127833	HP:0001761	Pes cavus
OMIM:616040	SYT2	127833	HP:0001765	Hammertoe
OMIM:616040	SYT2	127833	HP:0002460	Distal muscle weakness
OMIM:616040	SYT2	127833	HP:0001265	Hyporeflexia
ORPHA:347	WT1	7490	HP:0000150	Gonadoblastoma
ORPHA:347	WT1	7490	HP:0000822	Hypertension
ORPHA:347	WT1	7490	HP:0008723	Gonadal dysgenesis with female appearance, male
ORPHA:347	WT1	7490	HP:0100820	Glomerulopathy
ORPHA:347	WT1	7490	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:347	WT1	7490	HP:0000093	Proteinuria
ORPHA:347	WT1	7490	HP:0000037	Male pseudohermaphroditism
ORPHA:347	WT1	7490	HP:0000837	Increased circulating gonadotropin level
ORPHA:347	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
ORPHA:347	WT1	7490	HP:0000100	Nephrotic syndrome
ORPHA:347	WT1	7490	HP:0008214	Decreased serum estradiol
ORPHA:347	WT1	7490	HP:0010464	Streak ovary
ORPHA:347	WT1	7490	HP:0000083	Renal insufficiency
ORPHA:347	WT1	7490	HP:0000786	Primary amenorrhea
ORPHA:347	WT1	7490	HP:0000033	Ambiguous genitalia, male
ORPHA:296	PTH1R	5745	HP:0002797	Osteolysis
ORPHA:296	PTH1R	5745	HP:0100761	Visceral angiomatosis
ORPHA:296	PTH1R	5745	HP:0000944	Abnormality of the metaphysis
ORPHA:296	PTH1R	5745	HP:0005701	Multiple enchondromatosis
ORPHA:296	PTH1R	5745	HP:0001482	Subcutaneous nodule
ORPHA:296	PTH1R	5745	HP:0002653	Bone pain
ORPHA:296	PTH1R	5745	HP:0001387	Joint stiffness
ORPHA:296	PTH1R	5745	HP:0002983	Micromelia
ORPHA:296	IDH1	3417	HP:0002797	Osteolysis
ORPHA:296	IDH1	3417	HP:0100761	Visceral angiomatosis
ORPHA:296	IDH1	3417	HP:0000944	Abnormality of the metaphysis
ORPHA:296	IDH1	3417	HP:0005701	Multiple enchondromatosis
ORPHA:296	IDH1	3417	HP:0001482	Subcutaneous nodule
ORPHA:296	IDH1	3417	HP:0002653	Bone pain
ORPHA:296	IDH1	3417	HP:0001387	Joint stiffness
ORPHA:296	IDH1	3417	HP:0002983	Micromelia
ORPHA:296	IDH2	3418	HP:0002797	Osteolysis
ORPHA:296	IDH2	3418	HP:0100761	Visceral angiomatosis
ORPHA:296	IDH2	3418	HP:0000944	Abnormality of the metaphysis
ORPHA:296	IDH2	3418	HP:0005701	Multiple enchondromatosis
ORPHA:296	IDH2	3418	HP:0001482	Subcutaneous nodule
ORPHA:296	IDH2	3418	HP:0002653	Bone pain
ORPHA:296	IDH2	3418	HP:0001387	Joint stiffness
ORPHA:296	IDH2	3418	HP:0002983	Micromelia
OMIM:187900	GFI1B	8328	HP:0001873	Thrombocytopenia
OMIM:187900	GFI1B	8328	HP:0003337	Reduced prothrombin consumption
OMIM:187900	GFI1B	8328	HP:0000007	Autosomal recessive inheritance
OMIM:187900	GFI1B	8328	HP:0000006	Autosomal dominant inheritance
OMIM:187900	GFI1B	8328	HP:0002239	Gastrointestinal hemorrhage
OMIM:187900	GFI1B	8328	HP:0012526	Absence of alpha granules
OMIM:187900	GFI1B	8328	HP:0011974	Myelofibrosis
OMIM:187900	GFI1B	8328	HP:0000978	Bruising susceptibility
OMIM:187900	GFI1B	8328	HP:0003828	Variable expressivity
OMIM:187900	GFI1B	8328	HP:0003593	Infantile onset
OMIM:187900	GFI1B	8328	HP:0000421	Epistaxis
OMIM:187900	GFI1B	8328	HP:0001872	Abnormality of thrombocytes
OMIM:187900	GFI1B	8328	HP:0003010	Prolonged bleeding time
OMIM:135700	KIF21A	55605	HP:0000006	Autosomal dominant inheritance
OMIM:135700	KIF21A	55605	HP:0012241	Levator palpebrae superioris atrophy
OMIM:135700	KIF21A	55605	HP:0001488	Bilateral ptosis
OMIM:135700	KIF21A	55605	HP:0000577	Exotropia
OMIM:135700	KIF21A	55605	HP:0007936	Restrictive external ophthalmoplegia
OMIM:135700	KIF21A	55605	HP:0001491	Congenital fibrosis of extraocular muscles
OMIM:135700	KIF21A	55605	HP:0012242	Superior rectus atrophy
OMIM:135700	KIF21A	55605	HP:0000565	Esotropia
OMIM:135700	KIF21A	55605	HP:0001477	Compensatory chin elevation
OMIM:252605	GNPTG	84572	HP:0000007	Autosomal recessive inheritance
OMIM:252605	GNPTG	84572	HP:0000470	Short neck
OMIM:252605	GNPTG	84572	HP:0001155	Abnormality of the hand
OMIM:252605	GNPTG	84572	HP:0002869	Flared iliac wings
OMIM:252605	GNPTG	84572	HP:0003333	Increased serum beta-hexosaminidase
OMIM:252605	GNPTG	84572	HP:0002650	Scoliosis
OMIM:252605	GNPTG	84572	HP:0000943	Dysostosis multiplex
OMIM:252605	GNPTG	84572	HP:0001387	Joint stiffness
OMIM:252605	GNPTG	84572	HP:0007759	Opacification of the corneal stroma
OMIM:252605	GNPTG	84572	HP:0000768	Pectus carinatum
OMIM:252605	GNPTG	84572	HP:0003538	Increased serum iduronate sulfatase activity
OMIM:252605	GNPTG	84572	HP:0002829	Arthralgia
OMIM:252605	GNPTG	84572	HP:0001650	Aortic valve stenosis
OMIM:252605	GNPTG	84572	HP:0001256	Intellectual disability, mild
OMIM:252605	GNPTG	84572	HP:0000545	Myopia
OMIM:252605	GNPTG	84572	HP:0001547	Abnormality of the rib cage
OMIM:252605	GNPTG	84572	HP:0000280	Coarse facial features
OMIM:252605	GNPTG	84572	HP:0002808	Kyphosis
OMIM:252605	GNPTG	84572	HP:0002857	Genu valgum
OMIM:252605	GNPTG	84572	HP:0001659	Aortic regurgitation
OMIM:252605	GNPTG	84572	HP:0003307	Hyperlordosis
OMIM:252605	GNPTG	84572	HP:0003370	Flat capital femoral epiphysis
OMIM:252605	GNPTG	84572	HP:0004322	Short stature
OMIM:615750	GUCY1A3	2982	HP:0000802	Impotence
OMIM:615750	GUCY1A3	2982	HP:0002571	Achalasia
OMIM:615750	GUCY1A3	2982	HP:0000007	Autosomal recessive inheritance
OMIM:615750	GUCY1A3	2982	HP:0002015	Dysphagia
OMIM:615750	GUCY1A3	2982	HP:0003828	Variable expressivity
OMIM:606963	MMP1	4312	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:920	TWIST2	117581	HP:0011224	Ablepharon
ORPHA:920	TWIST2	117581	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHA:920	TWIST2	117581	HP:0003187	Breast hypoplasia
ORPHA:920	TWIST2	117581	HP:0007957	Corneal opacity
ORPHA:920	TWIST2	117581	HP:0001126	Cryptophthalmos
ORPHA:920	TWIST2	117581	HP:0008736	Hypoplasia of penis
ORPHA:920	TWIST2	117581	HP:0000561	Absent eyelashes
ORPHA:920	TWIST2	117581	HP:0000154	Wide mouth
ORPHA:920	TWIST2	117581	HP:0000062	Ambiguous genitalia
ORPHA:920	TWIST2	117581	HP:0001537	Umbilical hernia
ORPHA:920	TWIST2	117581	HP:0000963	Thin skin
ORPHA:920	TWIST2	117581	HP:0008070	Sparse hair
ORPHA:920	TWIST2	117581	HP:0000055	Abnormality of female external genitalia
ORPHA:920	TWIST2	117581	HP:0100490	Camptodactyly of finger
ORPHA:920	TWIST2	117581	HP:0002213	Fine hair
ORPHA:920	TWIST2	117581	HP:0001263	Global developmental delay
ORPHA:920	TWIST2	117581	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:920	TWIST2	117581	HP:0000505	Visual impairment
ORPHA:920	TWIST2	117581	HP:0002223	Absent eyebrow
ORPHA:920	TWIST2	117581	HP:0000463	Anteverted nares
ORPHA:920	TWIST2	117581	HP:0000365	Hearing impairment
ORPHA:920	TWIST2	117581	HP:0000430	Underdeveloped nasal alae
ORPHA:920	TWIST2	117581	HP:0008551	Microtia
ORPHA:920	TWIST2	117581	HP:0001582	Redundant skin
ORPHA:920	TWIST2	117581	HP:0000545	Myopia
ORPHA:920	TWIST2	117581	HP:0000691	Microdontia
ORPHA:920	TWIST2	117581	HP:0000958	Dry skin
ORPHA:920	TWIST2	117581	HP:0000327	Hypoplasia of the maxilla
ORPHA:920	TWIST2	117581	HP:0000750	Delayed speech and language development
ORPHA:920	TWIST2	117581	HP:0007392	Excessive wrinkled skin
OMIM:614696	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:614696	CHMP2B	25978	HP:0001284	Areflexia
OMIM:614696	CHMP2B	25978	HP:0003678	Rapidly progressive
OMIM:614696	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:614696	CHMP2B	25978	HP:0003581	Adult onset
OMIM:614696	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:614696	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:614696	CHMP2B	25978	HP:0001265	Hyporeflexia
OMIM:614696	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:614696	CHMP2B	25978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	CHMP2B	25978	HP:0002483	Bulbar signs
OMIM:614696	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614823	SMAD6	4091	HP:0000006	Autosomal dominant inheritance
OMIM:614823	SMAD6	4091	HP:0004963	Calcification of the aorta
OMIM:614823	SMAD6	4091	HP:0001680	Coarctation of aorta
OMIM:614823	SMAD6	4091	HP:0001647	Bicuspid aortic valve
OMIM:256850	GAN	8139	HP:0010628	Facial palsy
OMIM:256850	GAN	8139	HP:0001347	Hyperreflexia
OMIM:256850	GAN	8139	HP:0001260	Dysarthria
OMIM:256850	GAN	8139	HP:0002460	Distal muscle weakness
OMIM:256850	GAN	8139	HP:0003390	Sensory axonal neuropathy
OMIM:256850	GAN	8139	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:256850	GAN	8139	HP:0003677	Slow progression
OMIM:256850	GAN	8139	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:256850	GAN	8139	HP:0002212	Curly hair
OMIM:256850	GAN	8139	HP:0001155	Abnormality of the hand
OMIM:256850	GAN	8139	HP:0001317	Abnormality of the cerebellum
OMIM:256850	GAN	8139	HP:0003701	Proximal muscle weakness
OMIM:256850	GAN	8139	HP:0000007	Autosomal recessive inheritance
OMIM:256850	GAN	8139	HP:0001762	Talipes equinovarus
OMIM:256850	GAN	8139	HP:0002600	Hyporeflexia of lower limbs
OMIM:256850	GAN	8139	HP:0002650	Scoliosis
OMIM:256850	GAN	8139	HP:0003621	Juvenile onset
OMIM:256850	GAN	8139	HP:0001763	Pes planus
OMIM:256850	GAN	8139	HP:0007002	Motor axonal neuropathy
OMIM:256850	GAN	8139	HP:0001258	Spastic paraplegia
OMIM:256850	GAN	8139	HP:0003376	Steppage gait
OMIM:256850	GAN	8139	HP:0003693	Distal amyotrophy
OMIM:256850	GAN	8139	HP:0002936	Distal sensory impairment
OMIM:256850	GAN	8139	HP:0003812	Phenotypic variability
OMIM:256850	GAN	8139	HP:0007256	Abnormal pyramidal signs
OMIM:256850	GAN	8139	HP:0002522	Areflexia of lower limbs
OMIM:256850	GAN	8139	HP:0000639	Nystagmus
OMIM:256850	GAN	8139	HP:0001761	Pes cavus
OMIM:612541	G6PC3	92579	HP:0001510	Growth delay
OMIM:612541	G6PC3	92579	HP:0000431	Wide nasal bridge
OMIM:612541	G6PC3	92579	HP:0012133	Erythroid hypoplasia
OMIM:612541	G6PC3	92579	HP:0001631	Atrial septal defect
OMIM:612541	G6PC3	92579	HP:0012311	Monocytosis
OMIM:612541	G6PC3	92579	HP:0002240	Hepatomegaly
OMIM:612541	G6PC3	92579	HP:0001643	Patent ductus arteriosus
OMIM:612541	G6PC3	92579	HP:0011304	Broad thumb
OMIM:612541	G6PC3	92579	HP:0001653	Mitral regurgitation
OMIM:612541	G6PC3	92579	HP:0001744	Splenomegaly
OMIM:612541	G6PC3	92579	HP:0002205	Recurrent respiratory infections
OMIM:612541	G6PC3	92579	HP:0001642	Pulmonic stenosis
OMIM:612541	G6PC3	92579	HP:0001875	Neutropenia
OMIM:612541	G6PC3	92579	HP:0000028	Cryptorchidism
OMIM:612541	G6PC3	92579	HP:0002092	Pulmonary arterial hypertension
OMIM:612541	G6PC3	92579	HP:0000175	Cleft palate
OMIM:612541	G6PC3	92579	HP:0000252	Microcephaly
OMIM:612541	G6PC3	92579	HP:0030084	Clinodactyly
OMIM:612541	G6PC3	92579	HP:0002619	Varicose veins
OMIM:612541	G6PC3	92579	HP:0000007	Autosomal recessive inheritance
OMIM:612541	G6PC3	92579	HP:0000778	Hypoplasia of the thymus
OMIM:612541	G6PC3	92579	HP:0000365	Hearing impairment
OMIM:612541	G6PC3	92579	HP:0003812	Phenotypic variability
OMIM:612541	G6PC3	92579	HP:0001873	Thrombocytopenia
OMIM:612541	G6PC3	92579	HP:0001888	Lymphopenia
OMIM:612541	G6PC3	92579	HP:0100806	Sepsis
OMIM:612541	G6PC3	92579	HP:0001903	Anemia
OMIM:612541	G6PC3	92579	HP:0000218	High palate
OMIM:612541	G6PC3	92579	HP:0002718	Recurrent bacterial infections
OMIM:612541	G6PC3	92579	HP:0001508	Failure to thrive
OMIM:612541	G6PC3	92579	HP:0002093	Respiratory insufficiency
OMIM:612541	G6PC3	92579	HP:0000768	Pectus carinatum
OMIM:612541	G6PC3	92579	HP:0000954	Single transverse palmar crease
OMIM:614325	NRXN1	9378	HP:0002883	Hyperventilation
OMIM:614325	NRXN1	9378	HP:0000154	Wide mouth
OMIM:614325	NRXN1	9378	HP:0001642	Pulmonic stenosis
OMIM:614325	NRXN1	9378	HP:0002307	Drooling
OMIM:614325	NRXN1	9378	HP:0001290	Generalized hypotonia
OMIM:614325	NRXN1	9378	HP:0002020	Gastroesophageal reflux
OMIM:614325	NRXN1	9378	HP:0002019	Constipation
OMIM:614325	NRXN1	9378	HP:0010808	Protruding tongue
OMIM:614325	NRXN1	9378	HP:0002650	Scoliosis
OMIM:614325	NRXN1	9378	HP:0000007	Autosomal recessive inheritance
OMIM:614325	NRXN1	9378	HP:0011968	Feeding difficulties
OMIM:614325	NRXN1	9378	HP:0200134	Epileptic encephalopathy
OMIM:614325	NRXN1	9378	HP:0010864	Intellectual disability, severe
OMIM:614325	NRXN1	9378	HP:0000486	Strabismus
OMIM:601419	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:601419	DES	1674	HP:0002019	Constipation
OMIM:601419	DES	1674	HP:0003458	EMG: myopathic abnormalities
OMIM:601419	DES	1674	HP:0000467	Neck muscle weakness
OMIM:601419	DES	1674	HP:0002460	Distal muscle weakness
OMIM:601419	DES	1674	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:601419	DES	1674	HP:0003694	Late-onset proximal muscle weakness
OMIM:601419	DES	1674	HP:0001283	Bulbar palsy
OMIM:601419	DES	1674	HP:0002600	Hyporeflexia of lower limbs
OMIM:601419	DES	1674	HP:0011675	Arrhythmia
OMIM:601419	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:601419	DES	1674	HP:0005130	Restrictive heart failure
OMIM:601419	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:601419	DES	1674	HP:0001639	Hypertrophic cardiomyopathy
OMIM:601419	DES	1674	HP:0002014	Diarrhea
OMIM:601419	DES	1674	HP:0003812	Phenotypic variability
OMIM:601419	DES	1674	HP:0010628	Facial palsy
OMIM:300749	CASK	8573	HP:0000300	Oval face
OMIM:300749	CASK	8573	HP:0002342	Intellectual disability, moderate
OMIM:300749	CASK	8573	HP:0001257	Spasticity
OMIM:300749	CASK	8573	HP:0008897	Postnatal growth retardation
OMIM:300749	CASK	8573	HP:0004322	Short stature
OMIM:300749	CASK	8573	HP:0001263	Global developmental delay
OMIM:300749	CASK	8573	HP:0002198	Dilated fourth ventricle
OMIM:300749	CASK	8573	HP:0001321	Cerebellar hypoplasia
OMIM:300749	CASK	8573	HP:0000966	Hypohidrosis
OMIM:300749	CASK	8573	HP:0001090	Large eyes
OMIM:300749	CASK	8573	HP:0000347	Micrognathia
OMIM:300749	CASK	8573	HP:0003196	Short nose
OMIM:300749	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:300749	CASK	8573	HP:0000286	Epicanthus
OMIM:300749	CASK	8573	HP:0000343	Long philtrum
OMIM:300749	CASK	8573	HP:0001423	X-linked dominant inheritance
OMIM:300749	CASK	8573	HP:0004325	Decreased body weight
OMIM:300749	CASK	8573	HP:0000455	Broad nasal tip
OMIM:300749	CASK	8573	HP:0000431	Wide nasal bridge
OMIM:300749	CASK	8573	HP:0000253	Progressive microcephaly
OMIM:300749	CASK	8573	HP:0000218	High palate
OMIM:300749	CASK	8573	HP:0001344	Absent speech
OMIM:300749	CASK	8573	HP:0000316	Hypertelorism
OMIM:300749	CASK	8573	HP:0000400	Macrotia
OMIM:300749	CASK	8573	HP:0001324	Muscle weakness
OMIM:300749	CASK	8573	HP:0001290	Generalized hypotonia
OMIM:300749	CASK	8573	HP:0001347	Hyperreflexia
OMIM:300749	CASK	8573	HP:0000426	Prominent nasal bridge
OMIM:300749	CASK	8573	HP:0000252	Microcephaly
ORPHA:2198	RHBDF2	79651	HP:0002033	Poor suck
ORPHA:2198	RHBDF2	79651	HP:0002015	Dysphagia
ORPHA:2198	RHBDF2	79651	HP:0002239	Gastrointestinal hemorrhage
ORPHA:2198	RHBDF2	79651	HP:0045026	Abnormality of the mediastinum
ORPHA:2198	RHBDF2	79651	HP:0002017	Nausea and vomiting
ORPHA:2198	RHBDF2	79651	HP:0002020	Gastroesophageal reflux
ORPHA:2198	RHBDF2	79651	HP:0000982	Palmoplantar keratoderma
ORPHA:2198	RHBDF2	79651	HP:0001541	Ascites
ORPHA:2198	RHBDF2	79651	HP:0100751	Esophageal neoplasm
ORPHA:2198	RHBDF2	79651	HP:0002240	Hepatomegaly
ORPHA:2198	RHBDF2	79651	HP:0001824	Weight loss
ORPHA:2198	RHBDF2	79651	HP:0002250	Abnormality of the large intestine
ORPHA:2198	RHBDF2	79651	HP:0004396	Poor appetite
ORPHA:1226	FOXE1	2304	HP:0000851	Congenital hypothyroidism
ORPHA:1226	FOXE1	2304	HP:0000453	Choanal atresia
ORPHA:1226	FOXE1	2304	HP:0001561	Polyhydramnios
ORPHA:1226	FOXE1	2304	HP:0008191	Thyroid agenesis
ORPHA:1226	FOXE1	2304	HP:0000278	Retrognathia
ORPHA:1226	FOXE1	2304	HP:0000175	Cleft palate
ORPHA:1226	FOXE1	2304	HP:0001249	Intellectual disability
ORPHA:1226	FOXE1	2304	HP:0011362	Abnormal hair quantity
OMIM:613759	FADD	8772	HP:0002059	Cerebral atrophy
OMIM:613759	FADD	8772	HP:0001410	Decreased liver function
OMIM:613759	FADD	8772	HP:0001629	Ventricular septal defect
OMIM:613759	FADD	8772	HP:0002719	Recurrent infections
OMIM:613759	FADD	8772	HP:0000007	Autosomal recessive inheritance
OMIM:613759	FADD	8772	HP:0001250	Seizures
OMIM:613759	FADD	8772	HP:0001298	Encephalopathy
OMIM:613759	FADD	8772	HP:0004935	Pulmonary artery atresia
OMIM:615995	BBIP1	92482	HP:0000083	Renal insufficiency
OMIM:615995	BBIP1	92482	HP:0001156	Brachydactyly
OMIM:615995	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBIP1	92482	HP:0000007	Autosomal recessive inheritance
OMIM:615995	BBIP1	92482	HP:0001513	Obesity
OMIM:615995	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615995	BBIP1	92482	HP:0000518	Cataract
ORPHA:2128	H19	283120	HP:0001555	Asymmetry of the thorax
ORPHA:2128	H19	283120	HP:0001256	Intellectual disability, mild
ORPHA:2128	H19	283120	HP:0000164	Abnormality of the dentition
ORPHA:2128	H19	283120	HP:0002650	Scoliosis
ORPHA:2128	H19	283120	HP:0001528	Hemihypertrophy
ORPHA:2128	H19	283120	HP:0000324	Facial asymmetry
ORPHA:2128	KCNQ1OT1	10984	HP:0001555	Asymmetry of the thorax
ORPHA:2128	KCNQ1OT1	10984	HP:0001256	Intellectual disability, mild
ORPHA:2128	KCNQ1OT1	10984	HP:0000164	Abnormality of the dentition
ORPHA:2128	KCNQ1OT1	10984	HP:0002650	Scoliosis
ORPHA:2128	KCNQ1OT1	10984	HP:0001528	Hemihypertrophy
ORPHA:2128	KCNQ1OT1	10984	HP:0000324	Facial asymmetry
ORPHA:2128	IGF2	3481	HP:0001555	Asymmetry of the thorax
ORPHA:2128	IGF2	3481	HP:0001256	Intellectual disability, mild
ORPHA:2128	IGF2	3481	HP:0000164	Abnormality of the dentition
ORPHA:2128	IGF2	3481	HP:0002650	Scoliosis
ORPHA:2128	IGF2	3481	HP:0001528	Hemihypertrophy
ORPHA:2128	IGF2	3481	HP:0000324	Facial asymmetry
ORPHA:261279	TBX4	9496	HP:0000252	Microcephaly
ORPHA:261279	TBX4	9496	HP:0002092	Pulmonary arterial hypertension
ORPHA:261279	TBX4	9496	HP:0000750	Delayed speech and language development
ORPHA:261279	TBX4	9496	HP:0100807	Long fingers
ORPHA:261279	TBX4	9496	HP:0002007	Frontal bossing
ORPHA:261279	TBX4	9496	HP:0004322	Short stature
ORPHA:261279	TBX4	9496	HP:0001511	Intrauterine growth retardation
ORPHA:261279	TBX4	9496	HP:0001643	Patent ductus arteriosus
ORPHA:261279	TBX4	9496	HP:0010511	Long toe
ORPHA:261279	TBX4	9496	HP:0011342	Mild global developmental delay
ORPHA:261279	TBX4	9496	HP:0011343	Moderate global developmental delay
ORPHA:261279	TBX2	6909	HP:0000252	Microcephaly
ORPHA:261279	TBX2	6909	HP:0002092	Pulmonary arterial hypertension
ORPHA:261279	TBX2	6909	HP:0000750	Delayed speech and language development
ORPHA:261279	TBX2	6909	HP:0100807	Long fingers
ORPHA:261279	TBX2	6909	HP:0002007	Frontal bossing
ORPHA:261279	TBX2	6909	HP:0004322	Short stature
ORPHA:261279	TBX2	6909	HP:0001511	Intrauterine growth retardation
ORPHA:261279	TBX2	6909	HP:0001643	Patent ductus arteriosus
ORPHA:261279	TBX2	6909	HP:0010511	Long toe
ORPHA:261279	TBX2	6909	HP:0011342	Mild global developmental delay
ORPHA:261279	TBX2	6909	HP:0011343	Moderate global developmental delay
OMIM:607855	LAMA2	3908	HP:0003560	Muscular dystrophy
OMIM:607855	LAMA2	3908	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:607855	LAMA2	3908	HP:0001290	Generalized hypotonia
OMIM:607855	LAMA2	3908	HP:0002751	Kyphoscoliosis
OMIM:607855	LAMA2	3908	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:607855	LAMA2	3908	HP:0008872	Feeding difficulties in infancy
OMIM:607855	LAMA2	3908	HP:0003577	Congenital onset
OMIM:607855	LAMA2	3908	HP:0001371	Flexion contracture
OMIM:607855	LAMA2	3908	HP:0000007	Autosomal recessive inheritance
OMIM:607855	LAMA2	3908	HP:0001250	Seizures
OMIM:607855	LAMA2	3908	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607855	LAMA2	3908	HP:0002536	Abnormal cortical gyration
OMIM:607855	LAMA2	3908	HP:0001284	Areflexia
OMIM:607855	LAMA2	3908	HP:0001270	Motor delay
OMIM:607855	LAMA2	3908	HP:0003741	Congenital muscular dystrophy
ORPHA:280794	KIT	3815	HP:0008066	Abnormal blistering of the skin
ORPHA:280794	KIT	3815	HP:0200151	Cutaneous mastocytosis
OMIM:277900	ATP7B	540	HP:0007327	Mixed demyelinating and axonal polyneuropathy
OMIM:277900	ATP7B	540	HP:0001878	Hemolytic anemia
OMIM:277900	ATP7B	540	HP:0200032	Kayser-Fleischer ring
OMIM:277900	ATP7B	540	HP:0002749	Osteomalacia
OMIM:277900	ATP7B	540	HP:0002150	Hypercalciuria
OMIM:277900	ATP7B	540	HP:0003076	Glycosuria
OMIM:277900	ATP7B	540	HP:0000124	Renal tubular dysfunction
OMIM:277900	ATP7B	540	HP:0000787	Nephrolithiasis
OMIM:277900	ATP7B	540	HP:0000829	Hypoparathyroidism
OMIM:277900	ATP7B	540	HP:0002240	Hepatomegaly
OMIM:277900	ATP7B	540	HP:0003109	Hyperphosphaturia
OMIM:277900	ATP7B	540	HP:0000939	Osteoporosis
OMIM:277900	ATP7B	540	HP:0003355	Aminoaciduria
OMIM:277900	ATP7B	540	HP:0001382	Joint hypermobility
OMIM:277900	ATP7B	540	HP:0200122	Atypical or prolonged hepatitis
OMIM:277900	ATP7B	540	HP:0000007	Autosomal recessive inheritance
OMIM:277900	ATP7B	540	HP:0001332	Dystonia
OMIM:277900	ATP7B	540	HP:0001394	Cirrhosis
OMIM:277900	ATP7B	540	HP:0001337	Tremor
OMIM:277900	ATP7B	540	HP:0002040	Esophageal varix
OMIM:277900	ATP7B	540	HP:0000726	Dementia
OMIM:277900	ATP7B	540	HP:0002015	Dysphagia
OMIM:277900	ATP7B	540	HP:0001399	Hepatic failure
OMIM:277900	ATP7B	540	HP:0001260	Dysarthria
OMIM:277900	ATP7B	540	HP:0001259	Coma
OMIM:277900	ATP7B	540	HP:0002275	Poor motor coordination
OMIM:277900	ATP7B	540	HP:0000751	Personality changes
OMIM:277900	ATP7B	540	HP:0002307	Drooling
OMIM:277900	ATP7B	540	HP:0000934	Chondrocalcinosis
OMIM:277900	ATP7B	540	HP:0010838	High nonceruloplasmin-bound serum copper
OMIM:277900	ATP7B	540	HP:0002758	Osteoarthritis
OMIM:277900	ATP7B	540	HP:0000093	Proteinuria
OMIM:610024	PDE6H	5149	HP:0008020	Progressive cone degeneration
OMIM:610024	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:610024	PDE6H	5149	HP:0000613	Photophobia
OMIM:610024	PDE6H	5149	HP:0000006	Autosomal dominant inheritance
OMIM:610024	PDE6H	5149	HP:0007641	Dyschromatopsia
OMIM:610024	PDE6H	5149	HP:0007663	Reduced visual acuity
OMIM:610024	PDE6H	5149	HP:0000662	Nyctalopia
OMIM:610024	PDE6H	5149	HP:0000548	Cone/cone-rod dystrophy
ORPHA:2067	ANTXR1	84168	HP:0000348	High forehead
ORPHA:2067	ANTXR1	84168	HP:0000974	Hyperextensible skin
ORPHA:2067	ANTXR1	84168	HP:0001596	Alopecia
ORPHA:2067	ANTXR1	84168	HP:0005692	Joint hyperflexibility
ORPHA:2067	ANTXR1	84168	HP:0100540	Palpebral edema
ORPHA:2067	ANTXR1	84168	HP:0000369	Low-set ears
ORPHA:2067	ANTXR1	84168	HP:0000316	Hypertelorism
ORPHA:2067	ANTXR1	84168	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:2067	ANTXR1	84168	HP:0000944	Abnormality of the metaphysis
ORPHA:2067	ANTXR1	84168	HP:0000501	Glaucoma
ORPHA:2067	ANTXR1	84168	HP:0000684	Delayed eruption of teeth
ORPHA:2067	ANTXR1	84168	HP:0005280	Depressed nasal bridge
ORPHA:2067	ANTXR1	84168	HP:0000653	Sparse eyelashes
ORPHA:2067	ANTXR1	84168	HP:0000535	Sparse and thin eyebrow
ORPHA:2067	ANTXR1	84168	HP:0000174	Abnormality of the palate
ORPHA:2067	ANTXR1	84168	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2067	ANTXR1	84168	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:2067	ANTXR1	84168	HP:0009928	Thick nasal alae
ORPHA:2067	ANTXR1	84168	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:2067	ANTXR1	84168	HP:0000889	Abnormality of the clavicle
ORPHA:2067	ANTXR1	84168	HP:0007495	Prematurely aged appearance
ORPHA:2067	ANTXR1	84168	HP:0010609	Skin tags
ORPHA:2067	ANTXR1	84168	HP:0000343	Long philtrum
ORPHA:2067	ANTXR1	84168	HP:0000505	Visual impairment
ORPHA:2067	ANTXR1	84168	HP:0000563	Keratoconus
ORPHA:2067	ANTXR1	84168	HP:0011800	Midface retrusion
ORPHA:2067	ANTXR1	84168	HP:0001537	Umbilical hernia
ORPHA:2067	ANTXR1	84168	HP:0002234	Early balding
ORPHA:2067	ANTXR1	84168	HP:0000347	Micrognathia
ORPHA:2067	ANTXR1	84168	HP:0002007	Frontal bossing
ORPHA:2067	ANTXR1	84168	HP:0000232	Everted lower lip vermilion
ORPHA:2067	ANTXR1	84168	HP:0000337	Broad forehead
ORPHA:2067	ANTXR1	84168	HP:0000303	Mandibular prognathia
ORPHA:2067	ANTXR1	84168	HP:0002750	Delayed skeletal maturation
ORPHA:2067	ANTXR1	84168	HP:0000463	Anteverted nares
ORPHA:2067	ANTXR1	84168	HP:0004322	Short stature
OMIM:167320	VCP	7415	HP:0002145	Frontotemporal dementia
OMIM:167320	VCP	7415	HP:0001288	Gait disturbance
OMIM:167320	VCP	7415	HP:0001332	Dystonia
OMIM:167320	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:167320	VCP	7415	HP:0002938	Lumbar hyperlordosis
OMIM:167320	VCP	7415	HP:0003198	Myopathy
OMIM:167320	VCP	7415	HP:0006913	Frontal cortical atrophy
OMIM:167320	VCP	7415	HP:0003724	Shoulder girdle muscle atrophy
OMIM:167320	VCP	7415	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:167320	VCP	7415	HP:0008988	Pelvic girdle muscle atrophy
OMIM:167320	VCP	7415	HP:0003701	Proximal muscle weakness
OMIM:167320	VCP	7415	HP:0003418	Back pain
OMIM:167320	VCP	7415	HP:0007112	Temporal cortical atrophy
OMIM:167320	VCP	7415	HP:0008946	Pelvic girdle amyotrophy
OMIM:167320	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:167320	VCP	7415	HP:0003690	Limb muscle weakness
OMIM:167320	VCP	7415	HP:0003749	Pelvic girdle muscle weakness
OMIM:167320	VCP	7415	HP:0003547	Shoulder girdle muscle weakness
OMIM:167320	VCP	7415	HP:0003551	Difficulty climbing stairs
OMIM:167320	VCP	7415	HP:0010639	Elevated alkaline phosphatase of bone origin
OMIM:167320	VCP	7415	HP:0003691	Scapular winging
OMIM:167320	VCP	7415	HP:0002357	Dysphasia
OMIM:167320	VCP	7415	HP:0003693	Distal amyotrophy
OMIM:167320	VCP	7415	HP:0003805	Rimmed vacuoles
OMIM:167320	VCP	7415	HP:0030838	Hip pain
OMIM:167320	VCP	7415	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613769	RGR	5995	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RGR	5995	HP:0000505	Visual impairment
OMIM:613769	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613769	RGR	5995	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RGR	5995	HP:0001133	Constriction of peripheral visual field
ORPHA:158681	KRT5	3852	HP:0001000	Abnormality of skin pigmentation
ORPHA:158681	KRT5	3852	HP:0200037	Skin vesicle
ORPHA:158681	KRT5	3852	HP:0010783	Erythema
ORPHA:158681	KRT5	3852	HP:0000988	Skin rash
OMIM:300835	GATA1	2623	HP:0004312	Abnormality of reticulocytes
OMIM:300835	GATA1	2623	HP:0011273	Anisocytosis
OMIM:300835	GATA1	2623	HP:0001875	Neutropenia
OMIM:300835	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:300835	GATA1	2623	HP:0003593	Infantile onset
OMIM:300835	GATA1	2623	HP:0001900	Increased hemoglobin
OMIM:300835	GATA1	2623	HP:0004445	Elliptocytosis
OMIM:300835	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:300835	GATA1	2623	HP:0003828	Variable expressivity
OMIM:616566	RIPPLY2	134701	HP:0000007	Autosomal recessive inheritance
OMIM:616566	RIPPLY2	134701	HP:0002947	Cervical kyphosis
OMIM:616566	RIPPLY2	134701	HP:0003416	Spinal canal stenosis
ORPHA:90340	NOD2	64127	HP:0000491	Keratitis
ORPHA:90340	NOD2	64127	HP:0000518	Cataract
ORPHA:90340	NOD2	64127	HP:0012219	Erythema nodosum
ORPHA:90340	NOD2	64127	HP:0100769	Synovitis
ORPHA:90340	NOD2	64127	HP:0002829	Arthralgia
ORPHA:90340	NOD2	64127	HP:0100490	Camptodactyly of finger
ORPHA:90340	NOD2	64127	HP:0001945	Fever
ORPHA:90340	NOD2	64127	HP:0000613	Photophobia
ORPHA:90340	NOD2	64127	HP:0005764	Polyarticular arthritis
ORPHA:90340	NOD2	64127	HP:0000953	Hyperpigmentation of the skin
ORPHA:90340	NOD2	64127	HP:0012123	Posterior uveitis
ORPHA:90340	NOD2	64127	HP:0001094	Iridocyclitis
ORPHA:90340	NOD2	64127	HP:0200034	Papule
ORPHA:90340	NOD2	64127	HP:0000958	Dry skin
ORPHA:90340	NOD2	64127	HP:0000988	Skin rash
ORPHA:90340	NOD2	64127	HP:0010783	Erythema
ORPHA:90340	NOD2	64127	HP:0001376	Limitation of joint mobility
ORPHA:90340	NOD2	64127	HP:0000501	Glaucoma
ORPHA:90340	NOD2	64127	HP:0001386	Joint swelling
OMIM:204650	ENAM	10117	HP:0006285	Hypomineralization of enamel
OMIM:204650	ENAM	10117	HP:0009102	Anterior open-bite malocclusion
OMIM:204650	ENAM	10117	HP:0006286	Yellow-brown discoloration of the teeth
OMIM:204650	ENAM	10117	HP:0000007	Autosomal recessive inheritance
OMIM:204650	ENAM	10117	HP:0001425	Heterogeneous
OMIM:204650	ENAM	10117	HP:0000705	Amelogenesis imperfecta
OMIM:605899	AMT	275	HP:0100247	Recurrent singultus
OMIM:605899	AMT	275	HP:0000752	Hyperactivity
OMIM:605899	AMT	275	HP:0001250	Seizures
OMIM:605899	AMT	275	HP:0003108	Hyperglycinuria
OMIM:605899	AMT	275	HP:0000711	Restlessness
OMIM:605899	AMT	275	HP:0001298	Encephalopathy
OMIM:605899	AMT	275	HP:0001336	Myoclonus
OMIM:605899	AMT	275	HP:0001274	Agenesis of corpus callosum
OMIM:605899	AMT	275	HP:0001522	Death in infancy
OMIM:605899	AMT	275	HP:0000737	Irritability
OMIM:605899	AMT	275	HP:0001290	Generalized hypotonia
OMIM:605899	AMT	275	HP:0001249	Intellectual disability
OMIM:605899	AMT	275	HP:0001254	Lethargy
OMIM:605899	AMT	275	HP:0000007	Autosomal recessive inheritance
OMIM:605899	AMT	275	HP:0002154	Hyperglycinemia
OMIM:605899	AMT	275	HP:0001347	Hyperreflexia
OMIM:605899	AMT	275	HP:0000718	Aggressive behavior
OMIM:605899	AMT	275	HP:0100710	Impulsivity
OMIM:605899	GLDC	2731	HP:0100247	Recurrent singultus
OMIM:605899	GLDC	2731	HP:0000752	Hyperactivity
OMIM:605899	GLDC	2731	HP:0001250	Seizures
OMIM:605899	GLDC	2731	HP:0003108	Hyperglycinuria
OMIM:605899	GLDC	2731	HP:0000711	Restlessness
OMIM:605899	GLDC	2731	HP:0001298	Encephalopathy
OMIM:605899	GLDC	2731	HP:0001336	Myoclonus
OMIM:605899	GLDC	2731	HP:0001274	Agenesis of corpus callosum
OMIM:605899	GLDC	2731	HP:0001522	Death in infancy
OMIM:605899	GLDC	2731	HP:0000737	Irritability
OMIM:605899	GLDC	2731	HP:0001290	Generalized hypotonia
OMIM:605899	GLDC	2731	HP:0001249	Intellectual disability
OMIM:605899	GLDC	2731	HP:0001254	Lethargy
OMIM:605899	GLDC	2731	HP:0000007	Autosomal recessive inheritance
OMIM:605899	GLDC	2731	HP:0002154	Hyperglycinemia
OMIM:605899	GLDC	2731	HP:0001347	Hyperreflexia
OMIM:605899	GLDC	2731	HP:0000718	Aggressive behavior
OMIM:605899	GLDC	2731	HP:0100710	Impulsivity
OMIM:605899	GCSH	2653	HP:0100247	Recurrent singultus
OMIM:605899	GCSH	2653	HP:0000752	Hyperactivity
OMIM:605899	GCSH	2653	HP:0001250	Seizures
OMIM:605899	GCSH	2653	HP:0003108	Hyperglycinuria
OMIM:605899	GCSH	2653	HP:0000711	Restlessness
OMIM:605899	GCSH	2653	HP:0001298	Encephalopathy
OMIM:605899	GCSH	2653	HP:0001336	Myoclonus
OMIM:605899	GCSH	2653	HP:0001274	Agenesis of corpus callosum
OMIM:605899	GCSH	2653	HP:0001522	Death in infancy
OMIM:605899	GCSH	2653	HP:0000737	Irritability
OMIM:605899	GCSH	2653	HP:0001290	Generalized hypotonia
OMIM:605899	GCSH	2653	HP:0001249	Intellectual disability
OMIM:605899	GCSH	2653	HP:0001254	Lethargy
OMIM:605899	GCSH	2653	HP:0000007	Autosomal recessive inheritance
OMIM:605899	GCSH	2653	HP:0002154	Hyperglycinemia
OMIM:605899	GCSH	2653	HP:0001347	Hyperreflexia
OMIM:605899	GCSH	2653	HP:0000718	Aggressive behavior
OMIM:605899	GCSH	2653	HP:0100710	Impulsivity
OMIM:545000	TRNI	4565	HP:0001336	Myoclonus
OMIM:545000	TRNI	4565	HP:0003200	Ragged-red muscle fibers
OMIM:545000	TRNI	4565	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNI	4565	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNI	4565	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNI	4565	HP:0001324	Muscle weakness
OMIM:545000	TRNI	4565	HP:0001250	Seizures
OMIM:545000	TRNI	4565	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNI	4565	HP:0001251	Ataxia
OMIM:545000	TRNI	4565	HP:0002151	Increased serum lactate
OMIM:545000	TRNI	4565	HP:0003198	Myopathy
OMIM:545000	TRNI	4565	HP:0001257	Spasticity
OMIM:545000	TRNK	4566	HP:0001336	Myoclonus
OMIM:545000	TRNK	4566	HP:0003200	Ragged-red muscle fibers
OMIM:545000	TRNK	4566	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNK	4566	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNK	4566	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNK	4566	HP:0001324	Muscle weakness
OMIM:545000	TRNK	4566	HP:0001250	Seizures
OMIM:545000	TRNK	4566	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNK	4566	HP:0001251	Ataxia
OMIM:545000	TRNK	4566	HP:0002151	Increased serum lactate
OMIM:545000	TRNK	4566	HP:0003198	Myopathy
OMIM:545000	TRNK	4566	HP:0001257	Spasticity
OMIM:545000	TRNL1	4567	HP:0001336	Myoclonus
OMIM:545000	TRNL1	4567	HP:0003200	Ragged-red muscle fibers
OMIM:545000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNL1	4567	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNL1	4567	HP:0001324	Muscle weakness
OMIM:545000	TRNL1	4567	HP:0001250	Seizures
OMIM:545000	TRNL1	4567	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNL1	4567	HP:0001251	Ataxia
OMIM:545000	TRNL1	4567	HP:0002151	Increased serum lactate
OMIM:545000	TRNL1	4567	HP:0003198	Myopathy
OMIM:545000	TRNL1	4567	HP:0001257	Spasticity
OMIM:545000	TRNP	4571	HP:0001336	Myoclonus
OMIM:545000	TRNP	4571	HP:0003200	Ragged-red muscle fibers
OMIM:545000	TRNP	4571	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNP	4571	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNP	4571	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNP	4571	HP:0001324	Muscle weakness
OMIM:545000	TRNP	4571	HP:0001250	Seizures
OMIM:545000	TRNP	4571	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNP	4571	HP:0001251	Ataxia
OMIM:545000	TRNP	4571	HP:0002151	Increased serum lactate
OMIM:545000	TRNP	4571	HP:0003198	Myopathy
OMIM:545000	TRNP	4571	HP:0001257	Spasticity
OMIM:545000	TRNF	4558	HP:0001336	Myoclonus
OMIM:545000	TRNF	4558	HP:0003200	Ragged-red muscle fibers
OMIM:545000	TRNF	4558	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNF	4558	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNF	4558	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNF	4558	HP:0001324	Muscle weakness
OMIM:545000	TRNF	4558	HP:0001250	Seizures
OMIM:545000	TRNF	4558	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNF	4558	HP:0001251	Ataxia
OMIM:545000	TRNF	4558	HP:0002151	Increased serum lactate
OMIM:545000	TRNF	4558	HP:0003198	Myopathy
OMIM:545000	TRNF	4558	HP:0001257	Spasticity
ORPHA:221016	RECQL4	9401	HP:0001006	Hypotrichosis
ORPHA:221016	RECQL4	9401	HP:0008404	Nail dystrophy
ORPHA:221016	RECQL4	9401	HP:0002652	Skeletal dysplasia
ORPHA:221016	RECQL4	9401	HP:0001029	Poikiloderma
ORPHA:221016	RECQL4	9401	HP:0002860	Squamous cell carcinoma
ORPHA:221016	RECQL4	9401	HP:0000992	Cutaneous photosensitivity
ORPHA:221016	RECQL4	9401	HP:0002984	Hypoplasia of the radius
ORPHA:221016	RECQL4	9401	HP:0000685	Hypoplasia of teeth
ORPHA:221016	RECQL4	9401	HP:0000982	Palmoplantar keratoderma
ORPHA:221016	RECQL4	9401	HP:0001510	Growth delay
ORPHA:221016	RECQL4	9401	HP:0002669	Osteosarcoma
ORPHA:221016	RECQL4	9401	HP:0002671	Basal cell carcinoma
ORPHA:221016	RECQL4	9401	HP:0002007	Frontal bossing
ORPHA:221016	RECQL4	9401	HP:0000691	Microdontia
ORPHA:221016	RECQL4	9401	HP:0002223	Absent eyebrow
ORPHA:221016	RECQL4	9401	HP:0009778	Short thumb
ORPHA:221016	RECQL4	9401	HP:0000561	Absent eyelashes
ORPHA:221016	RECQL4	9401	HP:0007495	Prematurely aged appearance
ORPHA:221016	RECQL4	9401	HP:0002299	Brittle hair
ORPHA:221016	RECQL4	9401	HP:0000518	Cataract
ORPHA:221016	RECQL4	9401	HP:0011120	Concave nasal ridge
OMIM:613382	PTHLH	5744	HP:0001156	Brachydactyly
OMIM:613382	PTHLH	5744	HP:0010743	Short metatarsal
OMIM:613382	PTHLH	5744	HP:0004322	Short stature
OMIM:613382	PTHLH	5744	HP:0000006	Autosomal dominant inheritance
OMIM:613382	PTHLH	5744	HP:0010049	Short metacarpal
OMIM:610582	KCNJ11	3767	HP:0008255	Transient neonatal diabetes mellitus
OMIM:610582	KCNJ11	3767	HP:0040217	Elevated hemoglobin A1c
OMIM:610582	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:610582	KCNJ11	3767	HP:0003074	Hyperglycemia
OMIM:610582	KCNJ11	3767	HP:0009800	Maternal diabetes
OMIM:611884	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:611884	DNAH11	8701	HP:0012265	Ciliary dyskinesia
ORPHA:238459	SLC35A1	10559	HP:0002090	Pneumonia
ORPHA:238459	SLC35A1	10559	HP:0012143	Abnormality of cells of the megakaryocyte lineage
ORPHA:238459	SLC35A1	10559	HP:0011883	Abnormal platelet granules
ORPHA:238459	SLC35A1	10559	HP:0100658	Cellulitis
ORPHA:238459	SLC35A1	10559	HP:0001902	Giant platelets
ORPHA:238459	SLC35A1	10559	HP:0001933	Subcutaneous hemorrhage
ORPHA:238459	SLC35A1	10559	HP:0040223	Pulmonary hemorrhage
ORPHA:238459	SLC35A1	10559	HP:0002098	Respiratory distress
ORPHA:238459	SLC35A1	10559	HP:0012418	Hypoxemia
ORPHA:238459	SLC35A1	10559	HP:0003010	Prolonged bleeding time
ORPHA:238459	SLC35A1	10559	HP:0001875	Neutropenia
ORPHA:238459	SLC35A1	10559	HP:0001873	Thrombocytopenia
OMIM:245900	LCAT	3931	HP:0002155	Hypertriglyceridemia
OMIM:245900	LCAT	3931	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:245900	LCAT	3931	HP:0001895	Normochromic anemia
OMIM:245900	LCAT	3931	HP:0007759	Opacification of the corneal stroma
OMIM:245900	LCAT	3931	HP:0000083	Renal insufficiency
OMIM:245900	LCAT	3931	HP:0001878	Hemolytic anemia
OMIM:245900	LCAT	3931	HP:0000007	Autosomal recessive inheritance
OMIM:245900	LCAT	3931	HP:0000093	Proteinuria
OMIM:613192	TRAPPC9	83696	HP:0000322	Short philtrum
OMIM:613192	TRAPPC9	83696	HP:0000752	Hyperactivity
OMIM:613192	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:613192	TRAPPC9	83696	HP:0000319	Smooth philtrum
OMIM:613192	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:613192	TRAPPC9	83696	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	TRAPPC9	83696	HP:0000470	Short neck
OMIM:613192	TRAPPC9	83696	HP:0003593	Infantile onset
OMIM:613192	TRAPPC9	83696	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	TRAPPC9	83696	HP:0005484	Postnatal microcephaly
OMIM:614782	FUS	2521	HP:0002174	Postural tremor
OMIM:614782	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:615075	CTNNB1	1499	HP:0000252	Microcephaly
OMIM:615075	CTNNB1	1499	HP:0003593	Infantile onset
OMIM:615075	CTNNB1	1499	HP:0000486	Strabismus
OMIM:615075	CTNNB1	1499	HP:0001249	Intellectual disability
OMIM:615075	CTNNB1	1499	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615075	CTNNB1	1499	HP:0001264	Spastic diplegia
OMIM:615075	CTNNB1	1499	HP:0000219	Thin upper lip vermilion
OMIM:615075	CTNNB1	1499	HP:0000343	Long philtrum
OMIM:615075	CTNNB1	1499	HP:0002167	Neurological speech impairment
OMIM:615075	CTNNB1	1499	HP:0001290	Generalized hypotonia
OMIM:615075	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:615075	CTNNB1	1499	HP:0001263	Global developmental delay
OMIM:600001	GATA6	2627	HP:0003076	Glycosuria
OMIM:600001	GATA6	2627	HP:0011611	Interrupted aortic arch
OMIM:600001	GATA6	2627	HP:0001643	Patent ductus arteriosus
OMIM:600001	GATA6	2627	HP:0001508	Failure to thrive
OMIM:600001	GATA6	2627	HP:0004415	Pulmonary artery stenosis
OMIM:600001	GATA6	2627	HP:0001642	Pulmonic stenosis
OMIM:600001	GATA6	2627	HP:0001636	Tetralogy of Fallot
OMIM:600001	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:600001	GATA6	2627	HP:0001655	Patent foramen ovale
OMIM:600001	GATA6	2627	HP:0011682	Perimembranous ventricular septal defect
OMIM:600001	GATA6	2627	HP:0001511	Intrauterine growth retardation
OMIM:600001	GATA6	2627	HP:0001660	Truncus arteriosus
OMIM:600001	GATA6	2627	HP:0001263	Global developmental delay
OMIM:600001	GATA6	2627	HP:0000819	Diabetes mellitus
OMIM:600001	GATA6	2627	HP:0001669	Transposition of the great arteries
OMIM:600001	GATA6	2627	HP:0003074	Hyperglycemia
OMIM:600001	GATA6	2627	HP:0002594	Pancreatic hypoplasia
OMIM:252650	MCOLN1	57192	HP:0003593	Infantile onset
OMIM:252650	MCOLN1	57192	HP:0000252	Microcephaly
OMIM:252650	MCOLN1	57192	HP:0007893	Progressive retinal degeneration
OMIM:252650	MCOLN1	57192	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:252650	MCOLN1	57192	HP:0001344	Absent speech
OMIM:252650	MCOLN1	57192	HP:0001272	Cerebellar atrophy
OMIM:252650	MCOLN1	57192	HP:0001290	Generalized hypotonia
OMIM:252650	MCOLN1	57192	HP:0001263	Global developmental delay
OMIM:252650	MCOLN1	57192	HP:0007281	Developmental stagnation
OMIM:252650	MCOLN1	57192	HP:0002510	Spastic tetraplegia
OMIM:252650	MCOLN1	57192	HP:0007759	Opacification of the corneal stroma
OMIM:252650	MCOLN1	57192	HP:0000613	Photophobia
OMIM:252650	MCOLN1	57192	HP:0001249	Intellectual disability
OMIM:252650	MCOLN1	57192	HP:0001347	Hyperreflexia
OMIM:252650	MCOLN1	57192	HP:0000007	Autosomal recessive inheritance
OMIM:252650	MCOLN1	57192	HP:0001332	Dystonia
OMIM:252650	MCOLN1	57192	HP:0001438	Abnormality of abdomen morphology
OMIM:252650	MCOLN1	57192	HP:0007266	Cerebral dysmyelination
OMIM:252650	MCOLN1	57192	HP:0000648	Optic atrophy
OMIM:252650	MCOLN1	57192	HP:0006989	Dysplastic corpus callosum
OMIM:252650	MCOLN1	57192	HP:0011020	Abnormality of mucopolysaccharide metabolism
OMIM:252650	MCOLN1	57192	HP:0000486	Strabismus
OMIM:252650	MCOLN1	57192	HP:0003487	Babinski sign
OMIM:252650	MCOLN1	57192	HP:0004345	Abnormality of ganglioside metabolism
OMIM:312750	MECP2	4204	HP:0005484	Postnatal microcephaly
OMIM:312750	MECP2	4204	HP:0002333	Motor deterioration
OMIM:312750	MECP2	4204	HP:0002808	Kyphosis
OMIM:312750	MECP2	4204	HP:0001332	Dystonia
OMIM:312750	MECP2	4204	HP:0001773	Short foot
OMIM:312750	MECP2	4204	HP:0002376	Developmental regression
OMIM:312750	MECP2	4204	HP:0004322	Short stature
OMIM:312750	MECP2	4204	HP:0002187	Intellectual disability, profound
OMIM:312750	MECP2	4204	HP:0002019	Constipation
OMIM:312750	MECP2	4204	HP:0002066	Gait ataxia
OMIM:312750	MECP2	4204	HP:0002120	Cerebral cortical atrophy
OMIM:312750	MECP2	4204	HP:0003763	Bruxism
OMIM:312750	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:312750	MECP2	4204	HP:0000726	Dementia
OMIM:312750	MECP2	4204	HP:0001250	Seizures
OMIM:312750	MECP2	4204	HP:0001423	X-linked dominant inheritance
OMIM:312750	MECP2	4204	HP:0005135	Abnormal T-wave
OMIM:312750	MECP2	4204	HP:0001257	Spasticity
OMIM:312750	MECP2	4204	HP:0000164	Abnormality of the dentition
OMIM:312750	MECP2	4204	HP:0002078	Truncal ataxia
OMIM:312750	MECP2	4204	HP:0004326	Cachexia
OMIM:312750	MECP2	4204	HP:0003202	Skeletal muscle atrophy
OMIM:312750	MECP2	4204	HP:0000729	Autistic behavior
OMIM:312750	MECP2	4204	HP:0002650	Scoliosis
OMIM:312750	MECP2	4204	HP:0005184	Prolonged QTc interval
OMIM:312750	MECP2	4204	HP:0004879	Intermittent hyperventilation
OMIM:312750	MECP2	4204	HP:0010521	Gait apraxia
OMIM:312750	MECP2	4204	HP:0002353	EEG abnormality
OMIM:615715	ERCC6L2	375748	HP:0001319	Neonatal hypotonia
OMIM:615715	ERCC6L2	375748	HP:0001903	Anemia
OMIM:615715	ERCC6L2	375748	HP:0000007	Autosomal recessive inheritance
OMIM:615715	ERCC6L2	375748	HP:0000252	Microcephaly
OMIM:615715	ERCC6L2	375748	HP:0001873	Thrombocytopenia
OMIM:615715	ERCC6L2	375748	HP:0001882	Leukopenia
OMIM:615715	ERCC6L2	375748	HP:0005528	Bone marrow hypocellularity
OMIM:613157	POMGNT1	55624	HP:0000545	Myopia
OMIM:613157	POMGNT1	55624	HP:0003551	Difficulty climbing stairs
OMIM:613157	POMGNT1	55624	HP:0012378	Fatigue
OMIM:613157	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613157	POMGNT1	55624	HP:0003712	Skeletal muscle hypertrophy
OMIM:613157	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613157	POMGNT1	55624	HP:0003307	Hyperlordosis
OMIM:613157	POMGNT1	55624	HP:0003676	Progressive
OMIM:613157	POMGNT1	55624	HP:0003391	Gowers sign
OMIM:613157	POMGNT1	55624	HP:0003560	Muscular dystrophy
ORPHA:175	RMRP	6023	HP:0001508	Failure to thrive
ORPHA:175	RMRP	6023	HP:0000486	Strabismus
ORPHA:175	RMRP	6023	HP:0000212	Gingival overgrowth
ORPHA:175	RMRP	6023	HP:0002983	Micromelia
ORPHA:175	RMRP	6023	HP:0005019	Diaphyseal thickening
ORPHA:175	RMRP	6023	HP:0100569	Abnormal vertebral ossification
ORPHA:175	RMRP	6023	HP:0008070	Sparse hair
ORPHA:175	RMRP	6023	HP:0003307	Hyperlordosis
ORPHA:175	RMRP	6023	HP:0100729	Large face
ORPHA:175	RMRP	6023	HP:0000592	Blue sclerae
ORPHA:175	RMRP	6023	HP:0000545	Myopia
ORPHA:175	RMRP	6023	HP:0007703	Abnormality of retinal pigmentation
ORPHA:175	RMRP	6023	HP:0001638	Cardiomyopathy
ORPHA:175	RMRP	6023	HP:0002650	Scoliosis
ORPHA:175	RMRP	6023	HP:0000774	Narrow chest
ORPHA:175	RMRP	6023	HP:0002777	Tracheal stenosis
ORPHA:175	RMRP	6023	HP:0005871	Metaphyseal chondrodysplasia
ORPHA:175	RMRP	6023	HP:0004625	Biconvex vertebral bodies
ORPHA:175	RMRP	6023	HP:0011220	Prominent forehead
ORPHA:175	RMRP	6023	HP:0003272	Abnormality of the hip bone
ORPHA:175	RMRP	6023	HP:0006589	Flaring of lower rib cage
ORPHA:175	RMRP	6023	HP:0001315	Reduced tendon reflexes
ORPHA:175	RMRP	6023	HP:0001377	Limited elbow extension
ORPHA:175	RMRP	6023	HP:0005280	Depressed nasal bridge
ORPHA:175	RMRP	6023	HP:0000535	Sparse and thin eyebrow
ORPHA:175	RMRP	6023	HP:0001732	Abnormality of the pancreas
ORPHA:175	RMRP	6023	HP:0002982	Tibial bowing
ORPHA:175	RMRP	6023	HP:0004279	Short palm
ORPHA:175	RMRP	6023	HP:0008155	Mucopolysacchariduria
ORPHA:175	RMRP	6023	HP:0010301	Spinal dysraphism
ORPHA:175	RMRP	6023	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:175	RMRP	6023	HP:0002093	Respiratory insufficiency
ORPHA:175	RMRP	6023	HP:0002353	EEG abnormality
ORPHA:175	RMRP	6023	HP:0005930	Abnormality of epiphysis morphology
ORPHA:175	RMRP	6023	HP:0003027	Mesomelia
ORPHA:175	RMRP	6023	HP:0002024	Malabsorption
ORPHA:175	RMRP	6023	HP:0008905	Rhizomelia
ORPHA:175	RMRP	6023	HP:0001875	Neutropenia
ORPHA:175	RMRP	6023	HP:0001671	Abnormality of the cardiac septa
ORPHA:175	RMRP	6023	HP:0002901	Hypocalcemia
ORPHA:175	RMRP	6023	HP:0000470	Short neck
ORPHA:175	RMRP	6023	HP:0001252	Muscular hypotonia
ORPHA:175	RMRP	6023	HP:0000505	Visual impairment
ORPHA:175	RMRP	6023	HP:0008499	High-grade hypermetropia
ORPHA:175	RMRP	6023	HP:0000174	Abnormality of the palate
ORPHA:175	RMRP	6023	HP:0009832	Abnormality of the distal phalanx of finger
ORPHA:175	RMRP	6023	HP:0000444	Convex nasal ridge
OMIM:249000	MKS1	54903	HP:0001341	Olfactory lobe agenesis
OMIM:249000	MKS1	54903	HP:0001195	Single umbilical artery
OMIM:249000	MKS1	54903	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	MKS1	54903	HP:0000695	Natal tooth
OMIM:249000	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:249000	MKS1	54903	HP:0002308	Arnold-Chiari malformation
OMIM:249000	MKS1	54903	HP:0000470	Short neck
OMIM:249000	MKS1	54903	HP:0002566	Intestinal malrotation
OMIM:249000	MKS1	54903	HP:0000369	Low-set ears
OMIM:249000	MKS1	54903	HP:0000316	Hypertelorism
OMIM:249000	MKS1	54903	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
OMIM:249000	MKS1	54903	HP:0000028	Cryptorchidism
OMIM:249000	MKS1	54903	HP:0002089	Pulmonary hypoplasia
OMIM:249000	MKS1	54903	HP:0000130	Abnormality of the uterus
OMIM:249000	MKS1	54903	HP:0000180	Lobulated tongue
OMIM:249000	MKS1	54903	HP:0000568	Microphthalmia
OMIM:249000	MKS1	54903	HP:0000033	Ambiguous genitalia, male
OMIM:249000	MKS1	54903	HP:0001829	Foot polydactyly
OMIM:249000	MKS1	54903	HP:0000154	Wide mouth
OMIM:249000	MKS1	54903	HP:0001680	Coarctation of aorta
OMIM:249000	MKS1	54903	HP:0000252	Microcephaly
OMIM:249000	MKS1	54903	HP:0000601	Hypotelorism
OMIM:249000	MKS1	54903	HP:0001746	Asplenia
OMIM:249000	MKS1	54903	HP:0005343	Hypoplasia of the bladder
OMIM:249000	MKS1	54903	HP:0000340	Sloping forehead
OMIM:249000	MKS1	54903	HP:0001159	Syndactyly
OMIM:249000	MKS1	54903	HP:0000612	Iris coloboma
OMIM:249000	MKS1	54903	HP:0001539	Omphalocele
OMIM:249000	MKS1	54903	HP:0001883	Talipes
OMIM:249000	MKS1	54903	HP:0000347	Micrognathia
OMIM:249000	MKS1	54903	HP:0000465	Webbed neck
OMIM:249000	MKS1	54903	HP:0009466	Radial deviation of finger
OMIM:249000	MKS1	54903	HP:0001274	Agenesis of corpus callosum
OMIM:249000	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:249000	MKS1	54903	HP:0000069	Abnormality of the ureter
OMIM:249000	MKS1	54903	HP:0001744	Splenomegaly
OMIM:249000	MKS1	54903	HP:0001747	Accessory spleen
OMIM:249000	MKS1	54903	HP:0001321	Cerebellar hypoplasia
OMIM:249000	MKS1	54903	HP:0000204	Cleft upper lip
OMIM:249000	MKS1	54903	HP:0000835	Adrenal hypoplasia
OMIM:249000	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:249000	MKS1	54903	HP:0001600	Abnormality of the larynx
OMIM:249000	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:249000	MKS1	54903	HP:0006872	Cerebral hypoplasia
OMIM:249000	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:249000	MKS1	54903	HP:0000104	Renal agenesis
OMIM:249000	MKS1	54903	HP:0030084	Clinodactyly
OMIM:249000	MKS1	54903	HP:0006267	Large placenta
OMIM:249000	MKS1	54903	HP:0000061	Ambiguous genitalia, female
OMIM:249000	MKS1	54903	HP:0006487	Bowing of the long bones
OMIM:249000	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:249000	MKS1	54903	HP:0001623	Breech presentation
OMIM:249000	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:249000	MKS1	54903	HP:0002023	Anal atresia
OMIM:249000	MKS1	54903	HP:0001643	Patent ductus arteriosus
OMIM:249000	MKS1	54903	HP:0001562	Oligohydramnios
OMIM:249000	MKS1	54903	HP:0000175	Cleft palate
OMIM:249000	MKS1	54903	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	MKS1	54903	HP:0001511	Intrauterine growth retardation
OMIM:249000	MKS1	54903	HP:0002323	Anencephaly
OMIM:118800	PNKD	25953	HP:0002268	Paroxysmal dystonia
OMIM:118800	PNKD	25953	HP:0000273	Facial grimacing
OMIM:118800	PNKD	25953	HP:0002015	Dysphagia
OMIM:118800	PNKD	25953	HP:0001260	Dysarthria
OMIM:118800	PNKD	25953	HP:0003593	Infantile onset
OMIM:118800	PNKD	25953	HP:0011463	Childhood onset
OMIM:118800	PNKD	25953	HP:0002411	Myokymia
OMIM:118800	PNKD	25953	HP:0000006	Autosomal dominant inheritance
OMIM:118800	PNKD	25953	HP:0000473	Torticollis
OMIM:118800	PNKD	25953	HP:0007098	Paroxysmal choreoathetosis
OMIM:608236	ARHGEF10	9639	HP:0011096	Peripheral demyelination
OMIM:608236	ARHGEF10	9639	HP:0003581	Adult onset
OMIM:608236	ARHGEF10	9639	HP:0003383	Onion bulb formation
OMIM:608236	ARHGEF10	9639	HP:0000006	Autosomal dominant inheritance
OMIM:608236	ARHGEF10	9639	HP:0000762	Decreased nerve conduction velocity
OMIM:613855	CACNB4	785	HP:0002321	Vertigo
OMIM:613855	CACNB4	785	HP:0003829	Incomplete penetrance
OMIM:613855	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:613855	CACNB4	785	HP:0001260	Dysarthria
OMIM:613855	CACNB4	785	HP:0002131	Episodic ataxia
OMIM:613855	CACNB4	785	HP:0000640	Gaze-evoked nystagmus
OMIM:614170	PRDM5	11107	HP:0000592	Blue sclerae
OMIM:614170	PRDM5	11107	HP:0000563	Keratoconus
OMIM:614170	PRDM5	11107	HP:0000545	Myopia
OMIM:614170	PRDM5	11107	HP:0001119	Keratoglobus
OMIM:614170	PRDM5	11107	HP:0000365	Hearing impairment
OMIM:614170	PRDM5	11107	HP:0000007	Autosomal recessive inheritance
OMIM:605479	ABCB11	8647	HP:0000007	Autosomal recessive inheritance
OMIM:605479	ABCB11	8647	HP:0000952	Jaundice
OMIM:605479	ABCB11	8647	HP:0002908	Conjugated hyperbilirubinemia
OMIM:605479	ABCB11	8647	HP:0000989	Pruritus
OMIM:605479	ABCB11	8647	HP:0002240	Hepatomegaly
OMIM:605479	ABCB11	8647	HP:0003155	Elevated alkaline phosphatase
OMIM:605479	ABCB11	8647	HP:0001081	Cholelithiasis
OMIM:207900	ASL	435	HP:0002038	Protein avoidance
OMIM:207900	ASL	435	HP:0003623	Neonatal onset
OMIM:207900	ASL	435	HP:0008872	Feeding difficulties in infancy
OMIM:207900	ASL	435	HP:0005961	Hypoargininemia
OMIM:207900	ASL	435	HP:0001259	Coma
OMIM:207900	ASL	435	HP:0003217	Hyperglutaminemia
OMIM:207900	ASL	435	HP:0003218	Oroticaciduria
OMIM:207900	ASL	435	HP:0001251	Ataxia
OMIM:207900	ASL	435	HP:0000007	Autosomal recessive inheritance
OMIM:207900	ASL	435	HP:0001508	Failure to thrive
OMIM:207900	ASL	435	HP:0002240	Hepatomegaly
OMIM:207900	ASL	435	HP:0001987	Hyperammonemia
OMIM:207900	ASL	435	HP:0001950	Respiratory alkalosis
OMIM:207900	ASL	435	HP:0000737	Irritability
OMIM:207900	ASL	435	HP:0002013	Vomiting
OMIM:207900	ASL	435	HP:0001951	Episodic ammonia intoxication
OMIM:207900	ASL	435	HP:0001254	Lethargy
OMIM:207900	ASL	435	HP:0011359	Dry hair
OMIM:207900	ASL	435	HP:0001263	Global developmental delay
OMIM:207900	ASL	435	HP:0002181	Cerebral edema
OMIM:207900	ASL	435	HP:0003355	Aminoaciduria
OMIM:207900	ASL	435	HP:0001250	Seizures
OMIM:207900	ASL	435	HP:0009886	Trichorrhexis nodosa
OMIM:207900	ASL	435	HP:0001249	Intellectual disability
OMIM:207900	ASL	435	HP:0001395	Hepatic fibrosis
OMIM:300387	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300387	ACSL4	2182	HP:0000739	Anxiety
OMIM:300387	ACSL4	2182	HP:0001347	Hyperreflexia
OMIM:300387	ACSL4	2182	HP:0001423	X-linked dominant inheritance
OMIM:300387	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:616005	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:616005	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
OMIM:616005	PIK3R1	5295	HP:0000006	Autosomal dominant inheritance
OMIM:616005	PIK3R1	5295	HP:0004313	Decreased antibody level in blood
OMIM:616005	PIK3R1	5295	HP:0002721	Immunodeficiency
OMIM:616053	CCDC88C	440193	HP:0000006	Autosomal dominant inheritance
OMIM:616053	CCDC88C	440193	HP:0002313	Spastic paraparesis
OMIM:616053	CCDC88C	440193	HP:0002080	Intention tremor
OMIM:616053	CCDC88C	440193	HP:0002136	Broad-based gait
OMIM:616053	CCDC88C	440193	HP:0002317	Unsteady gait
OMIM:616053	CCDC88C	440193	HP:0003677	Slow progression
OMIM:616053	CCDC88C	440193	HP:0001260	Dysarthria
OMIM:616053	CCDC88C	440193	HP:0001347	Hyperreflexia
OMIM:616053	CCDC88C	440193	HP:0002075	Dysdiadochokinesis
OMIM:616053	CCDC88C	440193	HP:0006879	Pontocerebellar atrophy
OMIM:616053	CCDC88C	440193	HP:0003581	Adult onset
OMIM:607941	GATA4	2626	HP:0001631	Atrial septal defect
OMIM:607941	GATA4	2626	HP:0000006	Autosomal dominant inheritance
ORPHA:363618	LMNA	4000	HP:0100678	Premature skin wrinkling
ORPHA:363618	LMNA	4000	HP:0000561	Absent eyelashes
ORPHA:363618	LMNA	4000	HP:0002616	Aortic root dilatation
ORPHA:363618	LMNA	4000	HP:0003124	Hypercholesterolemia
ORPHA:363618	LMNA	4000	HP:0004929	Coronary atherosclerosis
ORPHA:363618	LMNA	4000	HP:0002289	Alopecia universalis
ORPHA:363618	LMNA	4000	HP:0002155	Hypertriglyceridemia
ORPHA:363618	LMNA	4000	HP:0002216	Premature graying of hair
ORPHA:363618	LMNA	4000	HP:0001635	Congestive heart failure
ORPHA:363618	LMNA	4000	HP:0001714	Ventricular hypertrophy
ORPHA:363618	LMNA	4000	HP:0002170	Intracranial hemorrhage
ORPHA:363618	LMNA	4000	HP:0012397	Aortic atherosclerosis
ORPHA:363618	LMNA	4000	HP:0001650	Aortic valve stenosis
ORPHA:363618	LMNA	4000	HP:0006739	Squamous cell carcinoma of the skin
ORPHA:363618	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:363618	LMNA	4000	HP:0002097	Emphysema
ORPHA:363618	LMNA	4000	HP:0004382	Mitral valve calcification
ORPHA:363618	LMNA	4000	HP:0001653	Mitral regurgitation
ORPHA:363618	LMNA	4000	HP:0002671	Basal cell carcinoma
ORPHA:363618	LMNA	4000	HP:0008070	Sparse hair
ORPHA:363618	LMNA	4000	HP:0002223	Absent eyebrow
ORPHA:363618	LMNA	4000	HP:0030445	Pulmonary carcinoid tumor
ORPHA:363618	LMNA	4000	HP:0004414	Abnormality of the pulmonary artery
ORPHA:363618	LMNA	4000	HP:0100324	Scleroderma
ORPHA:363618	LMNA	4000	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:363618	LMNA	4000	HP:0000822	Hypertension
ORPHA:363618	LMNA	4000	HP:0006766	Papillary renal cell carcinoma
ORPHA:2771	PLOD2	5352	HP:0000939	Osteoporosis
ORPHA:2771	PLOD2	5352	HP:0000325	Triangular face
ORPHA:2771	PLOD2	5352	HP:0001059	Pterygium
ORPHA:2771	PLOD2	5352	HP:0002650	Scoliosis
ORPHA:2771	PLOD2	5352	HP:0002645	Wormian bones
ORPHA:2771	PLOD2	5352	HP:0002757	Recurrent fractures
ORPHA:2771	PLOD2	5352	HP:0002808	Kyphosis
ORPHA:2771	PLOD2	5352	HP:0001762	Talipes equinovarus
ORPHA:2771	PLOD2	5352	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:2771	PLOD2	5352	HP:0004322	Short stature
ORPHA:2771	PLOD2	5352	HP:0002093	Respiratory insufficiency
ORPHA:2771	PLOD2	5352	HP:0001387	Joint stiffness
ORPHA:2771	FKBP10	60681	HP:0000939	Osteoporosis
ORPHA:2771	FKBP10	60681	HP:0000325	Triangular face
ORPHA:2771	FKBP10	60681	HP:0001059	Pterygium
ORPHA:2771	FKBP10	60681	HP:0002650	Scoliosis
ORPHA:2771	FKBP10	60681	HP:0002645	Wormian bones
ORPHA:2771	FKBP10	60681	HP:0002757	Recurrent fractures
ORPHA:2771	FKBP10	60681	HP:0002808	Kyphosis
ORPHA:2771	FKBP10	60681	HP:0001762	Talipes equinovarus
ORPHA:2771	FKBP10	60681	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:2771	FKBP10	60681	HP:0004322	Short stature
ORPHA:2771	FKBP10	60681	HP:0002093	Respiratory insufficiency
ORPHA:2771	FKBP10	60681	HP:0001387	Joint stiffness
OMIM:616963	SLC34A1	6569	HP:0000117	Renal phosphate wasting
OMIM:616963	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:616963	SLC34A1	6569	HP:0003072	Hypercalcemia
OMIM:616963	SLC34A1	6569	HP:0000007	Autosomal recessive inheritance
OMIM:616963	SLC34A1	6569	HP:0012408	Medullary nephrocalcinosis
ORPHA:887	HOXD13	3239	HP:0001671	Abnormality of the cardiac septa
ORPHA:887	HOXD13	3239	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:887	HOXD13	3239	HP:0002777	Tracheal stenosis
ORPHA:887	HOXD13	3239	HP:0001561	Polyhydramnios
ORPHA:887	HOXD13	3239	HP:0002575	Tracheoesophageal fistula
ORPHA:887	HOXD13	3239	HP:0001601	Laryngomalacia
ORPHA:887	HOXD13	3239	HP:0003422	Vertebral segmentation defect
ORPHA:887	HOXD13	3239	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:887	HOXD13	3239	HP:0000086	Ectopic kidney
ORPHA:887	HOXD13	3239	HP:0000104	Renal agenesis
ORPHA:887	HOXD13	3239	HP:0000776	Congenital diaphragmatic hernia
ORPHA:887	HOXD13	3239	HP:0002023	Anal atresia
ORPHA:887	HOXD13	3239	HP:0001622	Premature birth
OMIM:609308	POMT1	10585	HP:0003593	Infantile onset
OMIM:609308	POMT1	10585	HP:0000252	Microcephaly
OMIM:609308	POMT1	10585	HP:0003325	Limb-girdle muscle weakness
OMIM:609308	POMT1	10585	HP:0002938	Lumbar hyperlordosis
OMIM:609308	POMT1	10585	HP:0003551	Difficulty climbing stairs
OMIM:609308	POMT1	10585	HP:0003388	Easy fatigability
OMIM:609308	POMT1	10585	HP:0001371	Flexion contracture
OMIM:609308	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:609308	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:609308	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609308	POMT1	10585	HP:0003828	Variable expressivity
OMIM:609308	POMT1	10585	HP:0001270	Motor delay
OMIM:609308	POMT1	10585	HP:0002355	Difficulty walking
OMIM:609308	POMT1	10585	HP:0001249	Intellectual disability
OMIM:609308	POMT1	10585	HP:0003306	Spinal rigidity
OMIM:609308	POMT1	10585	HP:0003677	Slow progression
OMIM:610021	SLC16A1	6566	HP:0000006	Autosomal dominant inheritance
OMIM:610021	SLC16A1	6566	HP:0001425	Heterogeneous
OMIM:610021	SLC16A1	6566	HP:0002173	Hypoglycemic seizures
OMIM:610021	SLC16A1	6566	HP:0001325	Hypoglycemic coma
OMIM:610021	SLC16A1	6566	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:610021	SLC16A1	6566	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:615072	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:615072	GDF5	8200	HP:0001156	Brachydactyly
OMIM:615072	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:615072	GDF5	8200	HP:0004322	Short stature
OMIM:312920	PLP1	5354	HP:0001419	X-linked recessive inheritance
OMIM:312920	PLP1	5354	HP:0002503	Spinocerebellar tract degeneration
OMIM:312920	PLP1	5354	HP:0001347	Hyperreflexia
OMIM:312920	PLP1	5354	HP:0001249	Intellectual disability
OMIM:312920	PLP1	5354	HP:0001260	Dysarthria
OMIM:312920	PLP1	5354	HP:0003202	Skeletal muscle atrophy
OMIM:312920	PLP1	5354	HP:0003621	Juvenile onset
OMIM:312920	PLP1	5354	HP:0002313	Spastic paraparesis
OMIM:312920	PLP1	5354	HP:0002061	Lower limb spasticity
OMIM:312920	PLP1	5354	HP:0001258	Spastic paraplegia
OMIM:312920	PLP1	5354	HP:0000639	Nystagmus
OMIM:312920	PLP1	5354	HP:0002064	Spastic gait
OMIM:312920	PLP1	5354	HP:0000648	Optic atrophy
OMIM:312920	PLP1	5354	HP:0003487	Babinski sign
OMIM:312920	PLP1	5354	HP:0001761	Pes cavus
OMIM:312920	PLP1	5354	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:312920	PLP1	5354	HP:0001371	Flexion contracture
OMIM:312920	PLP1	5354	HP:0001310	Dysmetria
OMIM:312920	PLP1	5354	HP:0007340	Lower limb muscle weakness
OMIM:312920	PLP1	5354	HP:0003812	Phenotypic variability
OMIM:206500	TRIM36	55521	HP:0002323	Anencephaly
OMIM:206500	TRIM36	55521	HP:0002414	Spina bifida
OMIM:250790	CYB5A	1528	HP:0000037	Male pseudohermaphroditism
OMIM:250790	CYB5A	1528	HP:0012119	Methemoglobinemia
OMIM:250790	CYB5A	1528	HP:0000961	Cyanosis
OMIM:250790	CYB5A	1528	HP:0000007	Autosomal recessive inheritance
OMIM:250790	CYB5A	1528	HP:0003593	Infantile onset
OMIM:250790	CYB5A	1528	HP:0001939	Abnormality of metabolism/homeostasis
ORPHA:1617	TBR1	10716	HP:0001508	Failure to thrive
ORPHA:1617	TBR1	10716	HP:0100490	Camptodactyly of finger
ORPHA:1617	TBR1	10716	HP:0001319	Neonatal hypotonia
ORPHA:1617	TBR1	10716	HP:0000322	Short philtrum
ORPHA:1617	TBR1	10716	HP:0001249	Intellectual disability
ORPHA:1617	TBR1	10716	HP:0000316	Hypertelorism
ORPHA:1617	TBR1	10716	HP:0000729	Autistic behavior
ORPHA:1617	TBR1	10716	HP:0000589	Coloboma
ORPHA:1617	TBR1	10716	HP:0001518	Small for gestational age
ORPHA:1617	TBR1	10716	HP:0010078	Bullet-shaped distal phalanx of the hallux
ORPHA:1617	TBR1	10716	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1617	TBR1	10716	HP:0100807	Long fingers
ORPHA:1617	TBR1	10716	HP:0000568	Microphthalmia
ORPHA:1617	TBR1	10716	HP:0011344	Severe global developmental delay
ORPHA:1617	TBR1	10716	HP:0000175	Cleft palate
ORPHA:1617	TBR1	10716	HP:0000525	Abnormality of the iris
ORPHA:1617	TBR1	10716	HP:0001770	Toe syndactyly
ORPHA:1617	TBR1	10716	HP:0000494	Downslanted palpebral fissures
ORPHA:1617	TBR1	10716	HP:0001250	Seizures
ORPHA:1617	TBR1	10716	HP:0001188	Hand clenching
ORPHA:1617	TBR1	10716	HP:0001510	Growth delay
ORPHA:1617	TBR1	10716	HP:0000470	Short neck
ORPHA:1617	TBR1	10716	HP:0000274	Small face
ORPHA:1617	TBR1	10716	HP:0000518	Cataract
ORPHA:1617	TBR1	10716	HP:0000190	Abnormality of oral frenula
ORPHA:2337	AQP5	362	HP:0010783	Erythema
ORPHA:2337	AQP5	362	HP:0000989	Pruritus
ORPHA:2337	AQP5	362	HP:0200034	Papule
ORPHA:2337	AQP5	362	HP:0007435	Diffuse palmoplantar keratoderma
ORPHA:2337	AQP5	362	HP:0008066	Abnormal blistering of the skin
ORPHA:2337	AQP5	362	HP:0200042	Skin ulcer
OMIM:617041	MAFB	9935	HP:0000006	Autosomal dominant inheritance
OMIM:617041	MAFB	9935	HP:0000542	Impaired ocular adduction
OMIM:617041	MAFB	9935	HP:0000634	Impaired ocular abduction
ORPHA:31112	PDGFB	5155	HP:0010783	Erythema
ORPHA:31112	PDGFB	5155	HP:0001482	Subcutaneous nodule
ORPHA:31112	PDGFB	5155	HP:0001072	Thickened skin
ORPHA:31112	PDGFB	5155	HP:0100244	Fibrosarcoma
ORPHA:31112	PDGFB	5155	HP:0008069	Neoplasm of the skin
ORPHA:31112	PDGFB	5155	HP:0200042	Skin ulcer
ORPHA:31112	COL1A1	1277	HP:0010783	Erythema
ORPHA:31112	COL1A1	1277	HP:0001482	Subcutaneous nodule
ORPHA:31112	COL1A1	1277	HP:0001072	Thickened skin
ORPHA:31112	COL1A1	1277	HP:0100244	Fibrosarcoma
ORPHA:31112	COL1A1	1277	HP:0008069	Neoplasm of the skin
ORPHA:31112	COL1A1	1277	HP:0200042	Skin ulcer
OMIM:607473	VKORC1	79001	HP:0008321	Reduced factor X activity
OMIM:607473	VKORC1	79001	HP:0008169	Reduced factor VII activity
OMIM:607473	VKORC1	79001	HP:0001892	Abnormal bleeding
OMIM:607473	VKORC1	79001	HP:0011858	Reduced factor IX activity
OMIM:607473	VKORC1	79001	HP:0012201	Reduced prothrombin activity
OMIM:607473	VKORC1	79001	HP:0000007	Autosomal recessive inheritance
OMIM:202110	CYP17A1	1586	HP:0008221	Adrenal hyperplasia
OMIM:202110	CYP17A1	1586	HP:0000062	Ambiguous genitalia
OMIM:202110	CYP17A1	1586	HP:0000822	Hypertension
OMIM:202110	CYP17A1	1586	HP:0000771	Gynecomastia
OMIM:202110	CYP17A1	1586	HP:0001949	Hypokalemic alkalosis
OMIM:202110	CYP17A1	1586	HP:0000786	Primary amenorrhea
OMIM:202110	CYP17A1	1586	HP:0000007	Autosomal recessive inheritance
OMIM:202110	CYP17A1	1586	HP:0000840	Adrenogenital syndrome
OMIM:202110	CYP17A1	1586	HP:0000037	Male pseudohermaphroditism
OMIM:615725	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615725	SLC7A14	57709	HP:0001105	Retinal atrophy
OMIM:615725	SLC7A14	57709	HP:0001123	Visual field defect
OMIM:615725	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:614350	MSH6	2956	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
OMIM:614350	MSH6	2956	HP:0012114	Endometrial carcinoma
OMIM:614350	MSH6	2956	HP:0003829	Incomplete penetrance
OMIM:614350	MSH6	2956	HP:0000006	Autosomal dominant inheritance
ORPHA:171851	AP1S1	1174	HP:0010837	Decreased serum ceruloplasmin
ORPHA:171851	AP1S1	1174	HP:0011967	Hypocupremia
ORPHA:171851	AP1S1	1174	HP:0001249	Intellectual disability
ORPHA:171851	AP1S1	1174	HP:0008064	Ichthyosis
ORPHA:171851	AP1S1	1174	HP:0000962	Hyperkeratosis
ORPHA:171851	AP1S1	1174	HP:0009830	Peripheral neuropathy
ORPHA:171851	AP1S1	1174	HP:0001406	Intrahepatic cholestasis
ORPHA:171851	AP1S1	1174	HP:0002242	Abnormality of the intestine
ORPHA:3318	MPL	4352	HP:0003401	Paresthesia
ORPHA:3318	MPL	4352	HP:0100576	Amaurosis fugax
ORPHA:3318	MPL	4352	HP:0011875	Abnormal platelet morphology
ORPHA:3318	MPL	4352	HP:0005513	Increased megakaryocyte count
ORPHA:3318	MPL	4352	HP:0001658	Myocardial infarction
ORPHA:3318	MPL	4352	HP:0004420	Arterial thrombosis
ORPHA:3318	MPL	4352	HP:0001744	Splenomegaly
ORPHA:3318	MPL	4352	HP:0004936	Venous thrombosis
ORPHA:3318	MPL	4352	HP:0002326	Transient ischemic attack
ORPHA:3318	MPL	4352	HP:0100749	Chest pain
ORPHA:3318	MPL	4352	HP:0003010	Prolonged bleeding time
ORPHA:3318	SH2B3	10019	HP:0003401	Paresthesia
ORPHA:3318	SH2B3	10019	HP:0100576	Amaurosis fugax
ORPHA:3318	SH2B3	10019	HP:0011875	Abnormal platelet morphology
ORPHA:3318	SH2B3	10019	HP:0005513	Increased megakaryocyte count
ORPHA:3318	SH2B3	10019	HP:0001658	Myocardial infarction
ORPHA:3318	SH2B3	10019	HP:0004420	Arterial thrombosis
ORPHA:3318	SH2B3	10019	HP:0001744	Splenomegaly
ORPHA:3318	SH2B3	10019	HP:0004936	Venous thrombosis
ORPHA:3318	SH2B3	10019	HP:0002326	Transient ischemic attack
ORPHA:3318	SH2B3	10019	HP:0100749	Chest pain
ORPHA:3318	SH2B3	10019	HP:0003010	Prolonged bleeding time
ORPHA:3318	TP53	7157	HP:0003401	Paresthesia
ORPHA:3318	TP53	7157	HP:0100576	Amaurosis fugax
ORPHA:3318	TP53	7157	HP:0011875	Abnormal platelet morphology
ORPHA:3318	TP53	7157	HP:0005513	Increased megakaryocyte count
ORPHA:3318	TP53	7157	HP:0001658	Myocardial infarction
ORPHA:3318	TP53	7157	HP:0004420	Arterial thrombosis
ORPHA:3318	TP53	7157	HP:0001744	Splenomegaly
ORPHA:3318	TP53	7157	HP:0004936	Venous thrombosis
ORPHA:3318	TP53	7157	HP:0002326	Transient ischemic attack
ORPHA:3318	TP53	7157	HP:0100749	Chest pain
ORPHA:3318	TP53	7157	HP:0003010	Prolonged bleeding time
ORPHA:3318	JAK2	3717	HP:0003401	Paresthesia
ORPHA:3318	JAK2	3717	HP:0100576	Amaurosis fugax
ORPHA:3318	JAK2	3717	HP:0011875	Abnormal platelet morphology
ORPHA:3318	JAK2	3717	HP:0005513	Increased megakaryocyte count
ORPHA:3318	JAK2	3717	HP:0001658	Myocardial infarction
ORPHA:3318	JAK2	3717	HP:0004420	Arterial thrombosis
ORPHA:3318	JAK2	3717	HP:0001744	Splenomegaly
ORPHA:3318	JAK2	3717	HP:0004936	Venous thrombosis
ORPHA:3318	JAK2	3717	HP:0002326	Transient ischemic attack
ORPHA:3318	JAK2	3717	HP:0100749	Chest pain
ORPHA:3318	JAK2	3717	HP:0003010	Prolonged bleeding time
ORPHA:3318	TET2	54790	HP:0003401	Paresthesia
ORPHA:3318	TET2	54790	HP:0100576	Amaurosis fugax
ORPHA:3318	TET2	54790	HP:0011875	Abnormal platelet morphology
ORPHA:3318	TET2	54790	HP:0005513	Increased megakaryocyte count
ORPHA:3318	TET2	54790	HP:0001658	Myocardial infarction
ORPHA:3318	TET2	54790	HP:0004420	Arterial thrombosis
ORPHA:3318	TET2	54790	HP:0001744	Splenomegaly
ORPHA:3318	TET2	54790	HP:0004936	Venous thrombosis
ORPHA:3318	TET2	54790	HP:0002326	Transient ischemic attack
ORPHA:3318	TET2	54790	HP:0100749	Chest pain
ORPHA:3318	TET2	54790	HP:0003010	Prolonged bleeding time
ORPHA:3318	CALR	811	HP:0003401	Paresthesia
ORPHA:3318	CALR	811	HP:0100576	Amaurosis fugax
ORPHA:3318	CALR	811	HP:0011875	Abnormal platelet morphology
ORPHA:3318	CALR	811	HP:0005513	Increased megakaryocyte count
ORPHA:3318	CALR	811	HP:0001658	Myocardial infarction
ORPHA:3318	CALR	811	HP:0004420	Arterial thrombosis
ORPHA:3318	CALR	811	HP:0001744	Splenomegaly
ORPHA:3318	CALR	811	HP:0004936	Venous thrombosis
ORPHA:3318	CALR	811	HP:0002326	Transient ischemic attack
ORPHA:3318	CALR	811	HP:0100749	Chest pain
ORPHA:3318	CALR	811	HP:0003010	Prolonged bleeding time
ORPHA:3267	ERF	2077	HP:0004446	Stomatocytosis
ORPHA:3267	ERF	2077	HP:0001357	Plagiocephaly
ORPHA:3267	ERF	2077	HP:0005469	Flat occiput
ORPHA:3267	ERF	2077	HP:0011220	Prominent forehead
ORPHA:3267	ERF	2077	HP:0001252	Muscular hypotonia
ORPHA:3267	ERF	2077	HP:0008572	External ear malformation
OMIM:132900	MYH11	4629	HP:0001647	Bicuspid aortic valve
OMIM:132900	MYH11	4629	HP:0001643	Patent ductus arteriosus
OMIM:132900	MYH11	4629	HP:0002622	Dissecting aortic dilatation
OMIM:132900	MYH11	4629	HP:0005162	Left ventricular failure
OMIM:132900	MYH11	4629	HP:0012180	Cystic medial necrosis
OMIM:132900	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:132900	MYH11	4629	HP:0001659	Aortic regurgitation
OMIM:132900	MYH11	4629	HP:0008034	Abnormal iris pigmentation
OMIM:614039	TUBB3	10381	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614039	TUBB3	10381	HP:0003577	Congenital onset
OMIM:614039	TUBB3	10381	HP:0002342	Intellectual disability, moderate
OMIM:614039	TUBB3	10381	HP:0001339	Lissencephaly
OMIM:614039	TUBB3	10381	HP:0000252	Microcephaly
OMIM:614039	TUBB3	10381	HP:0003828	Variable expressivity
OMIM:614039	TUBB3	10381	HP:0000639	Nystagmus
OMIM:614039	TUBB3	10381	HP:0008936	Muscular hypotonia of the trunk
OMIM:614039	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:614039	TUBB3	10381	HP:0001274	Agenesis of corpus callosum
OMIM:614039	TUBB3	10381	HP:0002365	Hypoplasia of the brainstem
OMIM:614039	TUBB3	10381	HP:0001263	Global developmental delay
OMIM:614039	TUBB3	10381	HP:0001257	Spasticity
OMIM:614039	TUBB3	10381	HP:0000486	Strabismus
OMIM:614039	TUBB3	10381	HP:0002126	Polymicrogyria
OMIM:614039	TUBB3	10381	HP:0002539	Cortical dysplasia
OMIM:263750	DHODH	1723	HP:0000347	Micrognathia
OMIM:263750	DHODH	1723	HP:0000369	Low-set ears
OMIM:263750	DHODH	1723	HP:0001374	Congenital hip dislocation
OMIM:263750	DHODH	1723	HP:0000054	Micropenis
OMIM:263750	DHODH	1723	HP:0000453	Choanal atresia
OMIM:263750	DHODH	1723	HP:0000077	Abnormality of the kidney
OMIM:263750	DHODH	1723	HP:0005211	Midgut malrotation
OMIM:263750	DHODH	1723	HP:0000175	Cleft palate
OMIM:263750	DHODH	1723	HP:0002984	Hypoplasia of the radius
OMIM:263750	DHODH	1723	HP:0009778	Short thumb
OMIM:263750	DHODH	1723	HP:0000625	Cleft eyelid
OMIM:263750	DHODH	1723	HP:0008897	Postnatal growth retardation
OMIM:263750	DHODH	1723	HP:0000698	Conical tooth
OMIM:263750	DHODH	1723	HP:0003022	Hypoplasia of the ulna
OMIM:263750	DHODH	1723	HP:0000405	Conductive hearing impairment
OMIM:263750	DHODH	1723	HP:0002974	Radioulnar synostosis
OMIM:263750	DHODH	1723	HP:0001159	Syndactyly
OMIM:263750	DHODH	1723	HP:0002946	Supernumerary vertebrae
OMIM:263750	DHODH	1723	HP:0000204	Cleft upper lip
OMIM:263750	DHODH	1723	HP:0001760	Abnormality of the foot
OMIM:263750	DHODH	1723	HP:0000007	Autosomal recessive inheritance
OMIM:263750	DHODH	1723	HP:0002558	Supernumerary nipple
OMIM:263750	DHODH	1723	HP:0000272	Malar flattening
OMIM:263750	DHODH	1723	HP:0000378	Cupped ear
OMIM:263750	DHODH	1723	HP:0000767	Pectus excavatum
OMIM:263750	DHODH	1723	HP:0000494	Downslanted palpebral fissures
OMIM:263750	DHODH	1723	HP:0002021	Pyloric stenosis
OMIM:263750	DHODH	1723	HP:0000028	Cryptorchidism
OMIM:263750	DHODH	1723	HP:0000656	Ectropion
ORPHA:1263	FLNB	2317	HP:0002992	Abnormality of tibia morphology
ORPHA:1263	FLNB	2317	HP:0000774	Narrow chest
ORPHA:1263	FLNB	2317	HP:0002983	Micromelia
ORPHA:1263	FLNB	2317	HP:0006492	Aplasia/Hypoplasia of the fibula
ORPHA:1263	FLNB	2317	HP:0002818	Abnormality of the radius
ORPHA:1263	FLNB	2317	HP:0003063	Abnormality of the humerus
ORPHA:1263	FLNB	2317	HP:0001163	Abnormality of the metacarpal bones
ORPHA:1263	FLNB	2317	HP:0000824	Growth hormone deficiency
ORPHA:1263	FLNB	2317	HP:0100856	Poorly ossified vertebrae
ORPHA:1263	FLNB	2317	HP:0001539	Omphalocele
ORPHA:1263	FLNB	2317	HP:0002823	Abnormality of femur morphology
ORPHA:1263	FLNB	2317	HP:0008890	Severe short-limb dwarfism
ORPHA:1263	FLNB	2317	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:1263	FLNB	2317	HP:0001789	Hydrops fetalis
ORPHA:1263	FLNB	2317	HP:0006101	Finger syndactyly
ORPHA:1263	FLNB	2317	HP:0001561	Polyhydramnios
ORPHA:1263	FLNB	2317	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:1263	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:535000	COX3	4514	HP:0003198	Myopathy
OMIM:535000	COX3	4514	HP:0000648	Optic atrophy
OMIM:535000	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:535000	COX3	4514	HP:0001271	Polyneuropathy
OMIM:535000	COX3	4514	HP:0003829	Incomplete penetrance
OMIM:535000	COX3	4514	HP:0001425	Heterogeneous
OMIM:535000	COX3	4514	HP:0001251	Ataxia
OMIM:535000	COX3	4514	HP:0011675	Arrhythmia
OMIM:535000	COX3	4514	HP:0001138	Optic neuropathy
OMIM:535000	COX3	4514	HP:0002174	Postural tremor
OMIM:535000	COX3	4514	HP:0001332	Dystonia
OMIM:535000	COX3	4514	HP:0000572	Visual loss
OMIM:535000	COX3	4514	HP:0000576	Centrocecal scotoma
OMIM:535000	COX3	4514	HP:0001112	Leber optic atrophy
OMIM:535000	COX3	4514	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	CYTB	4519	HP:0003198	Myopathy
OMIM:535000	CYTB	4519	HP:0000648	Optic atrophy
OMIM:535000	CYTB	4519	HP:0001427	Mitochondrial inheritance
OMIM:535000	CYTB	4519	HP:0001271	Polyneuropathy
OMIM:535000	CYTB	4519	HP:0003829	Incomplete penetrance
OMIM:535000	CYTB	4519	HP:0001425	Heterogeneous
OMIM:535000	CYTB	4519	HP:0001251	Ataxia
OMIM:535000	CYTB	4519	HP:0011675	Arrhythmia
OMIM:535000	CYTB	4519	HP:0001138	Optic neuropathy
OMIM:535000	CYTB	4519	HP:0002174	Postural tremor
OMIM:535000	CYTB	4519	HP:0001332	Dystonia
OMIM:535000	CYTB	4519	HP:0000572	Visual loss
OMIM:535000	CYTB	4519	HP:0000576	Centrocecal scotoma
OMIM:535000	CYTB	4519	HP:0001112	Leber optic atrophy
OMIM:535000	CYTB	4519	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND1	4535	HP:0003198	Myopathy
OMIM:535000	ND1	4535	HP:0000648	Optic atrophy
OMIM:535000	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND1	4535	HP:0001271	Polyneuropathy
OMIM:535000	ND1	4535	HP:0003829	Incomplete penetrance
OMIM:535000	ND1	4535	HP:0001425	Heterogeneous
OMIM:535000	ND1	4535	HP:0001251	Ataxia
OMIM:535000	ND1	4535	HP:0011675	Arrhythmia
OMIM:535000	ND1	4535	HP:0001138	Optic neuropathy
OMIM:535000	ND1	4535	HP:0002174	Postural tremor
OMIM:535000	ND1	4535	HP:0001332	Dystonia
OMIM:535000	ND1	4535	HP:0000572	Visual loss
OMIM:535000	ND1	4535	HP:0000576	Centrocecal scotoma
OMIM:535000	ND1	4535	HP:0001112	Leber optic atrophy
OMIM:535000	ND1	4535	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND2	4536	HP:0003198	Myopathy
OMIM:535000	ND2	4536	HP:0000648	Optic atrophy
OMIM:535000	ND2	4536	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND2	4536	HP:0001271	Polyneuropathy
OMIM:535000	ND2	4536	HP:0003829	Incomplete penetrance
OMIM:535000	ND2	4536	HP:0001425	Heterogeneous
OMIM:535000	ND2	4536	HP:0001251	Ataxia
OMIM:535000	ND2	4536	HP:0011675	Arrhythmia
OMIM:535000	ND2	4536	HP:0001138	Optic neuropathy
OMIM:535000	ND2	4536	HP:0002174	Postural tremor
OMIM:535000	ND2	4536	HP:0001332	Dystonia
OMIM:535000	ND2	4536	HP:0000572	Visual loss
OMIM:535000	ND2	4536	HP:0000576	Centrocecal scotoma
OMIM:535000	ND2	4536	HP:0001112	Leber optic atrophy
OMIM:535000	ND2	4536	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND4	4538	HP:0003198	Myopathy
OMIM:535000	ND4	4538	HP:0000648	Optic atrophy
OMIM:535000	ND4	4538	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND4	4538	HP:0001271	Polyneuropathy
OMIM:535000	ND4	4538	HP:0003829	Incomplete penetrance
OMIM:535000	ND4	4538	HP:0001425	Heterogeneous
OMIM:535000	ND4	4538	HP:0001251	Ataxia
OMIM:535000	ND4	4538	HP:0011675	Arrhythmia
OMIM:535000	ND4	4538	HP:0001138	Optic neuropathy
OMIM:535000	ND4	4538	HP:0002174	Postural tremor
OMIM:535000	ND4	4538	HP:0001332	Dystonia
OMIM:535000	ND4	4538	HP:0000572	Visual loss
OMIM:535000	ND4	4538	HP:0000576	Centrocecal scotoma
OMIM:535000	ND4	4538	HP:0001112	Leber optic atrophy
OMIM:535000	ND4	4538	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND4L	4539	HP:0003198	Myopathy
OMIM:535000	ND4L	4539	HP:0000648	Optic atrophy
OMIM:535000	ND4L	4539	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND4L	4539	HP:0001271	Polyneuropathy
OMIM:535000	ND4L	4539	HP:0003829	Incomplete penetrance
OMIM:535000	ND4L	4539	HP:0001425	Heterogeneous
OMIM:535000	ND4L	4539	HP:0001251	Ataxia
OMIM:535000	ND4L	4539	HP:0011675	Arrhythmia
OMIM:535000	ND4L	4539	HP:0001138	Optic neuropathy
OMIM:535000	ND4L	4539	HP:0002174	Postural tremor
OMIM:535000	ND4L	4539	HP:0001332	Dystonia
OMIM:535000	ND4L	4539	HP:0000572	Visual loss
OMIM:535000	ND4L	4539	HP:0000576	Centrocecal scotoma
OMIM:535000	ND4L	4539	HP:0001112	Leber optic atrophy
OMIM:535000	ND4L	4539	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ATP6	4508	HP:0003198	Myopathy
OMIM:535000	ATP6	4508	HP:0000648	Optic atrophy
OMIM:535000	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:535000	ATP6	4508	HP:0001271	Polyneuropathy
OMIM:535000	ATP6	4508	HP:0003829	Incomplete penetrance
OMIM:535000	ATP6	4508	HP:0001425	Heterogeneous
OMIM:535000	ATP6	4508	HP:0001251	Ataxia
OMIM:535000	ATP6	4508	HP:0011675	Arrhythmia
OMIM:535000	ATP6	4508	HP:0001138	Optic neuropathy
OMIM:535000	ATP6	4508	HP:0002174	Postural tremor
OMIM:535000	ATP6	4508	HP:0001332	Dystonia
OMIM:535000	ATP6	4508	HP:0000572	Visual loss
OMIM:535000	ATP6	4508	HP:0000576	Centrocecal scotoma
OMIM:535000	ATP6	4508	HP:0001112	Leber optic atrophy
OMIM:535000	ATP6	4508	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND5	4540	HP:0003198	Myopathy
OMIM:535000	ND5	4540	HP:0000648	Optic atrophy
OMIM:535000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND5	4540	HP:0001271	Polyneuropathy
OMIM:535000	ND5	4540	HP:0003829	Incomplete penetrance
OMIM:535000	ND5	4540	HP:0001425	Heterogeneous
OMIM:535000	ND5	4540	HP:0001251	Ataxia
OMIM:535000	ND5	4540	HP:0011675	Arrhythmia
OMIM:535000	ND5	4540	HP:0001138	Optic neuropathy
OMIM:535000	ND5	4540	HP:0002174	Postural tremor
OMIM:535000	ND5	4540	HP:0001332	Dystonia
OMIM:535000	ND5	4540	HP:0000572	Visual loss
OMIM:535000	ND5	4540	HP:0000576	Centrocecal scotoma
OMIM:535000	ND5	4540	HP:0001112	Leber optic atrophy
OMIM:535000	ND5	4540	HP:0007768	Central retinal vessel vascular tortuosity
OMIM:535000	ND6	4541	HP:0003198	Myopathy
OMIM:535000	ND6	4541	HP:0000648	Optic atrophy
OMIM:535000	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND6	4541	HP:0001271	Polyneuropathy
OMIM:535000	ND6	4541	HP:0003829	Incomplete penetrance
OMIM:535000	ND6	4541	HP:0001425	Heterogeneous
OMIM:535000	ND6	4541	HP:0001251	Ataxia
OMIM:535000	ND6	4541	HP:0011675	Arrhythmia
OMIM:535000	ND6	4541	HP:0001138	Optic neuropathy
OMIM:535000	ND6	4541	HP:0002174	Postural tremor
OMIM:535000	ND6	4541	HP:0001332	Dystonia
OMIM:535000	ND6	4541	HP:0000572	Visual loss
OMIM:535000	ND6	4541	HP:0000576	Centrocecal scotoma
OMIM:535000	ND6	4541	HP:0001112	Leber optic atrophy
OMIM:535000	ND6	4541	HP:0007768	Central retinal vessel vascular tortuosity
ORPHA:2286	SHH	6469	HP:0001511	Intrauterine growth retardation
ORPHA:2286	SHH	6469	HP:0010644	Midnasal stenosis
ORPHA:2286	SHH	6469	HP:0000252	Microcephaly
ORPHA:2286	SHH	6469	HP:0000446	Narrow nasal bridge
ORPHA:2286	SHH	6469	HP:0000453	Choanal atresia
ORPHA:2286	SHH	6469	HP:0004322	Short stature
ORPHA:2286	SHH	6469	HP:0006315	Single median maxillary incisor
ORPHA:2286	SHH	6469	HP:0000601	Hypotelorism
ORPHA:2286	SHH	6469	HP:0001249	Intellectual disability
ORPHA:2286	SHH	6469	HP:0000322	Short philtrum
ORPHA:2286	SHH	6469	HP:0001622	Premature birth
ORPHA:2286	SHH	6469	HP:0010804	Tented upper lip vermilion
OMIM:614833	RTTN	25914	HP:0002342	Intellectual disability, moderate
OMIM:614833	RTTN	25914	HP:0001250	Seizures
OMIM:614833	RTTN	25914	HP:0002126	Polymicrogyria
OMIM:614833	RTTN	25914	HP:0002353	EEG abnormality
OMIM:614833	RTTN	25914	HP:0001260	Dysarthria
OMIM:614833	RTTN	25914	HP:0001273	Abnormality of the corpus callosum
OMIM:614833	RTTN	25914	HP:0000252	Microcephaly
OMIM:614833	RTTN	25914	HP:0003502	Mild short stature
OMIM:614833	RTTN	25914	HP:0002465	Poor speech
OMIM:614833	RTTN	25914	HP:0000007	Autosomal recessive inheritance
OMIM:227600	F10	2159	HP:0005261	Joint hemorrhage
OMIM:227600	F10	2159	HP:0003645	Prolonged partial thromboplastin time
OMIM:227600	F10	2159	HP:0000421	Epistaxis
OMIM:227600	F10	2159	HP:0008151	Prolonged prothrombin time
OMIM:227600	F10	2159	HP:0002170	Intracranial hemorrhage
OMIM:227600	F10	2159	HP:0000132	Menorrhagia
OMIM:227600	F10	2159	HP:0000007	Autosomal recessive inheritance
OMIM:227600	F10	2159	HP:0012233	Intramuscular hematoma
OMIM:227600	F10	2159	HP:0000225	Gingival bleeding
OMIM:227600	F10	2159	HP:0003828	Variable expressivity
OMIM:227600	F10	2159	HP:0008321	Reduced factor X activity
OMIM:612852	IL1RN	3557	HP:0000962	Hyperkeratosis
OMIM:612852	IL1RN	3557	HP:0001744	Splenomegaly
OMIM:612852	IL1RN	3557	HP:0002754	Osteomyelitis
OMIM:612852	IL1RN	3557	HP:0000007	Autosomal recessive inheritance
OMIM:612852	IL1RN	3557	HP:0002240	Hepatomegaly
OMIM:612852	IL1RN	3557	HP:0025116	Fetal distress
OMIM:612852	IL1RN	3557	HP:0001386	Joint swelling
OMIM:612852	IL1RN	3557	HP:0010280	Stomatitis
OMIM:612852	IL1RN	3557	HP:0025092	Epidermal acanthosis
OMIM:612852	IL1RN	3557	HP:0002829	Arthralgia
OMIM:612852	IL1RN	3557	HP:0040165	Periostitis
ORPHA:1394	TMCO1	54499	HP:0000892	Bifid ribs
ORPHA:1394	TMCO1	54499	HP:0011800	Midface retrusion
ORPHA:1394	TMCO1	54499	HP:0000494	Downslanted palpebral fissures
ORPHA:1394	TMCO1	54499	HP:0000256	Macrocephaly
ORPHA:1394	TMCO1	54499	HP:0000902	Rib fusion
ORPHA:1394	TMCO1	54499	HP:0003196	Short nose
ORPHA:1394	TMCO1	54499	HP:0002937	Hemivertebrae
ORPHA:1394	TMCO1	54499	HP:0000774	Narrow chest
ORPHA:1394	TMCO1	54499	HP:0000154	Wide mouth
ORPHA:1394	TMCO1	54499	HP:0001561	Polyhydramnios
ORPHA:1394	TMCO1	54499	HP:0002162	Low posterior hairline
ORPHA:1394	TMCO1	54499	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:1394	TMCO1	54499	HP:0000289	Broad philtrum
ORPHA:1394	TMCO1	54499	HP:0002120	Cerebral cortical atrophy
ORPHA:1394	TMCO1	54499	HP:0000445	Wide nose
ORPHA:1394	TMCO1	54499	HP:0000574	Thick eyebrow
ORPHA:1394	TMCO1	54499	HP:0000248	Brachycephaly
ORPHA:1394	TMCO1	54499	HP:0004322	Short stature
ORPHA:1394	TMCO1	54499	HP:0000470	Short neck
ORPHA:1394	TMCO1	54499	HP:0000316	Hypertelorism
ORPHA:1394	TMCO1	54499	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1394	TMCO1	54499	HP:0100790	Hernia
ORPHA:1394	TMCO1	54499	HP:0000486	Strabismus
ORPHA:1394	TMCO1	54499	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:1394	TMCO1	54499	HP:0002208	Coarse hair
ORPHA:1394	TMCO1	54499	HP:0002650	Scoliosis
ORPHA:1394	TMCO1	54499	HP:0000286	Epicanthus
ORPHA:1394	TMCO1	54499	HP:0000912	Sprengel anomaly
ORPHA:1394	TMCO1	54499	HP:0002119	Ventriculomegaly
ORPHA:1394	TMCO1	54499	HP:0000664	Synophrys
ORPHA:1394	TMCO1	54499	HP:0001249	Intellectual disability
ORPHA:300298	STEAP3	55240	HP:0003452	Increased serum iron
ORPHA:300298	STEAP3	55240	HP:0012464	Decreased transferrin saturation
ORPHA:300298	STEAP3	55240	HP:0025066	Decreased mean corpuscular volume
ORPHA:300298	STEAP3	55240	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:300298	STEAP3	55240	HP:0001903	Anemia
ORPHA:300298	STEAP3	55240	HP:0004823	Anisopoikilocytosis
ORPHA:300298	STEAP3	55240	HP:0012378	Fatigue
ORPHA:300298	STEAP3	55240	HP:0002910	Elevated hepatic transaminases
ORPHA:300298	STEAP3	55240	HP:0000135	Hypogonadism
ORPHA:300298	STEAP3	55240	HP:0000980	Pallor
ORPHA:300298	STEAP3	55240	HP:0001896	Reticulocytopenia
ORPHA:300298	STEAP3	55240	HP:0003281	Increased serum ferritin
ORPHA:300298	STEAP3	55240	HP:0012465	Elevated hepatic iron concentration
ORPHA:300298	STEAP3	55240	HP:0000027	Azoospermia
ORPHA:3095	FOXG1	2290	HP:0002119	Ventriculomegaly
ORPHA:3095	FOXG1	2290	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3095	FOXG1	2290	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:3095	FOXG1	2290	HP:0000365	Hearing impairment
ORPHA:3095	FOXG1	2290	HP:0002353	EEG abnormality
ORPHA:3095	FOXG1	2290	HP:0002020	Gastroesophageal reflux
ORPHA:3095	FOXG1	2290	HP:0009896	Abnormality of the antitragus
ORPHA:3095	FOXG1	2290	HP:0100490	Camptodactyly of finger
ORPHA:3095	FOXG1	2290	HP:0000430	Underdeveloped nasal alae
ORPHA:3095	FOXG1	2290	HP:0001231	Abnormality of the fingernails
ORPHA:3095	FOXG1	2290	HP:0000787	Nephrolithiasis
ORPHA:3095	FOXG1	2290	HP:0001257	Spasticity
ORPHA:3095	FOXG1	2290	HP:0100022	Abnormality of movement
ORPHA:3095	FOXG1	2290	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3095	FOXG1	2290	HP:0001250	Seizures
ORPHA:3095	FOXG1	2290	HP:0002120	Cerebral cortical atrophy
ORPHA:3095	FOXG1	2290	HP:0000154	Wide mouth
ORPHA:3095	FOXG1	2290	HP:0001249	Intellectual disability
ORPHA:3095	FOXG1	2290	HP:0000343	Long philtrum
ORPHA:3095	FOXG1	2290	HP:0002213	Fine hair
ORPHA:3095	FOXG1	2290	HP:0000252	Microcephaly
ORPHA:3095	FOXG1	2290	HP:0000445	Wide nose
ORPHA:3095	FOXG1	2290	HP:0002376	Developmental regression
ORPHA:3095	FOXG1	2290	HP:0012471	Thick vermilion border
ORPHA:3095	NTNG1	22854	HP:0002119	Ventriculomegaly
ORPHA:3095	NTNG1	22854	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3095	NTNG1	22854	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:3095	NTNG1	22854	HP:0000365	Hearing impairment
ORPHA:3095	NTNG1	22854	HP:0002353	EEG abnormality
ORPHA:3095	NTNG1	22854	HP:0002020	Gastroesophageal reflux
ORPHA:3095	NTNG1	22854	HP:0009896	Abnormality of the antitragus
ORPHA:3095	NTNG1	22854	HP:0100490	Camptodactyly of finger
ORPHA:3095	NTNG1	22854	HP:0000430	Underdeveloped nasal alae
ORPHA:3095	NTNG1	22854	HP:0001231	Abnormality of the fingernails
ORPHA:3095	NTNG1	22854	HP:0000787	Nephrolithiasis
ORPHA:3095	NTNG1	22854	HP:0001257	Spasticity
ORPHA:3095	NTNG1	22854	HP:0100022	Abnormality of movement
ORPHA:3095	NTNG1	22854	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3095	NTNG1	22854	HP:0001250	Seizures
ORPHA:3095	NTNG1	22854	HP:0002120	Cerebral cortical atrophy
ORPHA:3095	NTNG1	22854	HP:0000154	Wide mouth
ORPHA:3095	NTNG1	22854	HP:0001249	Intellectual disability
ORPHA:3095	NTNG1	22854	HP:0000343	Long philtrum
ORPHA:3095	NTNG1	22854	HP:0002213	Fine hair
ORPHA:3095	NTNG1	22854	HP:0000252	Microcephaly
ORPHA:3095	NTNG1	22854	HP:0000445	Wide nose
ORPHA:3095	NTNG1	22854	HP:0002376	Developmental regression
ORPHA:3095	NTNG1	22854	HP:0012471	Thick vermilion border
ORPHA:3095	CDKL5	6792	HP:0002119	Ventriculomegaly
ORPHA:3095	CDKL5	6792	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3095	CDKL5	6792	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:3095	CDKL5	6792	HP:0000365	Hearing impairment
ORPHA:3095	CDKL5	6792	HP:0002353	EEG abnormality
ORPHA:3095	CDKL5	6792	HP:0002020	Gastroesophageal reflux
ORPHA:3095	CDKL5	6792	HP:0009896	Abnormality of the antitragus
ORPHA:3095	CDKL5	6792	HP:0100490	Camptodactyly of finger
ORPHA:3095	CDKL5	6792	HP:0000430	Underdeveloped nasal alae
ORPHA:3095	CDKL5	6792	HP:0001231	Abnormality of the fingernails
ORPHA:3095	CDKL5	6792	HP:0000787	Nephrolithiasis
ORPHA:3095	CDKL5	6792	HP:0001257	Spasticity
ORPHA:3095	CDKL5	6792	HP:0100022	Abnormality of movement
ORPHA:3095	CDKL5	6792	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3095	CDKL5	6792	HP:0001250	Seizures
ORPHA:3095	CDKL5	6792	HP:0002120	Cerebral cortical atrophy
ORPHA:3095	CDKL5	6792	HP:0000154	Wide mouth
ORPHA:3095	CDKL5	6792	HP:0001249	Intellectual disability
ORPHA:3095	CDKL5	6792	HP:0000343	Long philtrum
ORPHA:3095	CDKL5	6792	HP:0002213	Fine hair
ORPHA:3095	CDKL5	6792	HP:0000252	Microcephaly
ORPHA:3095	CDKL5	6792	HP:0000445	Wide nose
ORPHA:3095	CDKL5	6792	HP:0002376	Developmental regression
ORPHA:3095	CDKL5	6792	HP:0012471	Thick vermilion border
ORPHA:3095	MECP2	4204	HP:0002119	Ventriculomegaly
ORPHA:3095	MECP2	4204	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3095	MECP2	4204	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:3095	MECP2	4204	HP:0000365	Hearing impairment
ORPHA:3095	MECP2	4204	HP:0002353	EEG abnormality
ORPHA:3095	MECP2	4204	HP:0002020	Gastroesophageal reflux
ORPHA:3095	MECP2	4204	HP:0009896	Abnormality of the antitragus
ORPHA:3095	MECP2	4204	HP:0100490	Camptodactyly of finger
ORPHA:3095	MECP2	4204	HP:0000430	Underdeveloped nasal alae
ORPHA:3095	MECP2	4204	HP:0001231	Abnormality of the fingernails
ORPHA:3095	MECP2	4204	HP:0000787	Nephrolithiasis
ORPHA:3095	MECP2	4204	HP:0001257	Spasticity
ORPHA:3095	MECP2	4204	HP:0100022	Abnormality of movement
ORPHA:3095	MECP2	4204	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3095	MECP2	4204	HP:0001250	Seizures
ORPHA:3095	MECP2	4204	HP:0002120	Cerebral cortical atrophy
ORPHA:3095	MECP2	4204	HP:0000154	Wide mouth
ORPHA:3095	MECP2	4204	HP:0001249	Intellectual disability
ORPHA:3095	MECP2	4204	HP:0000343	Long philtrum
ORPHA:3095	MECP2	4204	HP:0002213	Fine hair
ORPHA:3095	MECP2	4204	HP:0000252	Microcephaly
ORPHA:3095	MECP2	4204	HP:0000445	Wide nose
ORPHA:3095	MECP2	4204	HP:0002376	Developmental regression
ORPHA:3095	MECP2	4204	HP:0012471	Thick vermilion border
ORPHA:293964	AKT2	208	HP:0001520	Large for gestational age
ORPHA:293964	AKT2	208	HP:0001956	Truncal obesity
ORPHA:293964	AKT2	208	HP:0040215	Abnormal circulating insulin level
ORPHA:293964	AKT2	208	HP:0001528	Hemihypertrophy
ORPHA:293964	AKT2	208	HP:0006568	Increased hepatic glycogen content
ORPHA:293964	AKT2	208	HP:0002173	Hypoglycemic seizures
ORPHA:293964	AKT2	208	HP:0001985	Hypoketotic hypoglycemia
ORPHA:293964	AKT2	208	HP:0001998	Neonatal hypoglycemia
ORPHA:293964	AKT2	208	HP:0000771	Gynecomastia
ORPHA:293964	AKT2	208	HP:0030812	Enlarged tonsils
ORPHA:293964	AKT2	208	HP:0001325	Hypoglycemic coma
ORPHA:293964	AKT2	208	HP:0001958	Nonketotic hypoglycemia
ORPHA:3449	ADAMTS10	81794	HP:0011003	Severe Myopia
ORPHA:3449	ADAMTS10	81794	HP:0009778	Short thumb
ORPHA:3449	ADAMTS10	81794	HP:0001156	Brachydactyly
ORPHA:3449	ADAMTS10	81794	HP:0000501	Glaucoma
ORPHA:3449	ADAMTS10	81794	HP:0001083	Ectopia lentis
ORPHA:3449	ADAMTS10	81794	HP:0004322	Short stature
ORPHA:3449	ADAMTS10	81794	HP:0001072	Thickened skin
ORPHA:3449	ADAMTS10	81794	HP:0001376	Limitation of joint mobility
ORPHA:3449	LTBP2	4053	HP:0011003	Severe Myopia
ORPHA:3449	LTBP2	4053	HP:0009778	Short thumb
ORPHA:3449	LTBP2	4053	HP:0001156	Brachydactyly
ORPHA:3449	LTBP2	4053	HP:0000501	Glaucoma
ORPHA:3449	LTBP2	4053	HP:0001083	Ectopia lentis
ORPHA:3449	LTBP2	4053	HP:0004322	Short stature
ORPHA:3449	LTBP2	4053	HP:0001072	Thickened skin
ORPHA:3449	LTBP2	4053	HP:0001376	Limitation of joint mobility
ORPHA:3449	FBN1	2200	HP:0011003	Severe Myopia
ORPHA:3449	FBN1	2200	HP:0009778	Short thumb
ORPHA:3449	FBN1	2200	HP:0001156	Brachydactyly
ORPHA:3449	FBN1	2200	HP:0000501	Glaucoma
ORPHA:3449	FBN1	2200	HP:0001083	Ectopia lentis
ORPHA:3449	FBN1	2200	HP:0004322	Short stature
ORPHA:3449	FBN1	2200	HP:0001072	Thickened skin
ORPHA:3449	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:614158	TBXAS1	6916	HP:0000421	Epistaxis
OMIM:614158	TBXAS1	6916	HP:0003010	Prolonged bleeding time
OMIM:614158	TBXAS1	6916	HP:0000006	Autosomal dominant inheritance
OMIM:614158	TBXAS1	6916	HP:0000978	Bruising susceptibility
ORPHA:3454	ZC4H2	55906	HP:0100022	Abnormality of movement
ORPHA:3454	ZC4H2	55906	HP:0005745	Congenital foot contractures
ORPHA:3454	ZC4H2	55906	HP:0001263	Global developmental delay
ORPHA:3454	ZC4H2	55906	HP:0002167	Neurological speech impairment
ORPHA:3454	ZC4H2	55906	HP:0003693	Distal amyotrophy
ORPHA:3454	ZC4H2	55906	HP:0001376	Limitation of joint mobility
ORPHA:3454	ZC4H2	55906	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3454	ZC4H2	55906	HP:0001256	Intellectual disability, mild
ORPHA:3454	ZC4H2	55906	HP:0000657	Oculomotor apraxia
OMIM:612199	CTC1	80169	HP:0001250	Seizures
OMIM:612199	CTC1	80169	HP:0001257	Spasticity
OMIM:612199	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:612199	CTC1	80169	HP:0000618	Blindness
OMIM:612199	CTC1	80169	HP:0002756	Pathologic fracture
OMIM:612199	CTC1	80169	HP:0000939	Osteoporosis
OMIM:612199	CTC1	80169	HP:0001332	Dystonia
OMIM:612199	CTC1	80169	HP:0008897	Postnatal growth retardation
OMIM:612199	CTC1	80169	HP:0100864	Short femoral neck
OMIM:612199	CTC1	80169	HP:0007763	Retinal telangiectasia
OMIM:612199	CTC1	80169	HP:0002415	Leukodystrophy
OMIM:612199	CTC1	80169	HP:0000938	Osteopenia
OMIM:612199	CTC1	80169	HP:0002352	Leukoencephalopathy
OMIM:612199	CTC1	80169	HP:0003812	Phenotypic variability
OMIM:612199	CTC1	80169	HP:0008070	Sparse hair
OMIM:612199	CTC1	80169	HP:0001511	Intrauterine growth retardation
OMIM:612199	CTC1	80169	HP:0000963	Thin skin
OMIM:612199	CTC1	80169	HP:0002857	Genu valgum
OMIM:612199	CTC1	80169	HP:0002514	Cerebral calcification
OMIM:612199	CTC1	80169	HP:0004979	Metaphyseal sclerosis
OMIM:612199	CTC1	80169	HP:0003593	Infantile onset
OMIM:612199	CTC1	80169	HP:0001268	Mental deterioration
OMIM:612199	CTC1	80169	HP:0001251	Ataxia
OMIM:612199	CTC1	80169	HP:0001337	Tremor
OMIM:612199	CTC1	80169	HP:0002301	Hemiplegia
OMIM:612199	CTC1	80169	HP:0004322	Short stature
OMIM:612199	CTC1	80169	HP:0000648	Optic atrophy
OMIM:612199	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:612199	CTC1	80169	HP:0007256	Abnormal pyramidal signs
OMIM:612199	CTC1	80169	HP:0002650	Scoliosis
OMIM:612199	CTC1	80169	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:612199	CTC1	80169	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:612199	CTC1	80169	HP:0002584	Intestinal bleeding
OMIM:612199	CTC1	80169	HP:0007898	Exudative retinopathy
OMIM:612199	CTC1	80169	HP:0001903	Anemia
OMIM:612199	CTC1	80169	HP:0001260	Dysarthria
OMIM:612199	CTC1	80169	HP:0003676	Progressive
OMIM:615760	QARS	5859	HP:0002119	Ventriculomegaly
OMIM:615760	QARS	5859	HP:0000253	Progressive microcephaly
OMIM:615760	QARS	5859	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615760	QARS	5859	HP:0003429	CNS hypomyelination
OMIM:615760	QARS	5859	HP:0002059	Cerebral atrophy
OMIM:615760	QARS	5859	HP:0000340	Sloping forehead
OMIM:615760	QARS	5859	HP:0006855	Cerebellar vermis atrophy
OMIM:615760	QARS	5859	HP:0000601	Hypotelorism
OMIM:615760	QARS	5859	HP:0002133	Status epilepticus
OMIM:615760	QARS	5859	HP:0001290	Generalized hypotonia
OMIM:615760	QARS	5859	HP:0000007	Autosomal recessive inheritance
OMIM:615760	QARS	5859	HP:0000286	Epicanthus
OMIM:615760	QARS	5859	HP:0000341	Narrow forehead
OMIM:615760	QARS	5859	HP:0000369	Low-set ears
OMIM:615760	QARS	5859	HP:0001263	Global developmental delay
OMIM:615760	QARS	5859	HP:0000358	Posteriorly rotated ears
OMIM:615760	QARS	5859	HP:0003676	Progressive
OMIM:154780	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
OMIM:154780	COL11A1	1301	HP:0000006	Autosomal dominant inheritance
OMIM:154780	COL11A1	1301	HP:0012284	Small proximal tibial epiphyses
OMIM:154780	COL11A1	1301	HP:0012019	Lens luxation
OMIM:154780	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:154780	COL11A1	1301	HP:0000541	Retinal detachment
OMIM:154780	COL11A1	1301	HP:0000272	Malar flattening
OMIM:154780	COL11A1	1301	HP:0000286	Epicanthus
OMIM:154780	COL11A1	1301	HP:0000316	Hypertelorism
OMIM:154780	COL11A1	1301	HP:0000501	Glaucoma
OMIM:154780	COL11A1	1301	HP:0000343	Long philtrum
OMIM:154780	COL11A1	1301	HP:0000175	Cleft palate
OMIM:154780	COL11A1	1301	HP:0003031	Ulnar bowing
OMIM:154780	COL11A1	1301	HP:0011800	Midface retrusion
OMIM:154780	COL11A1	1301	HP:0006095	Wide tufts of distal phalanges
OMIM:154780	COL11A1	1301	HP:0000545	Myopia
OMIM:154780	COL11A1	1301	HP:0002684	Thickened calvaria
OMIM:154780	COL11A1	1301	HP:0000655	Vitreoretinal degeneration
OMIM:154780	COL11A1	1301	HP:0100250	Meningeal calcification
OMIM:154780	COL11A1	1301	HP:0000565	Esotropia
OMIM:154780	COL11A1	1301	HP:0003196	Short nose
OMIM:154780	COL11A1	1301	HP:0000519	Congenital cataract
OMIM:154780	COL11A1	1301	HP:0000946	Hypoplastic ilia
OMIM:154780	COL11A1	1301	HP:0005462	Calcification of falx cerebri
OMIM:154780	COL11A1	1301	HP:0002688	Absent frontal sinuses
OMIM:154780	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:154780	COL11A1	1301	HP:0012283	Small distal femoral epiphysis
OMIM:154780	COL11A1	1301	HP:0006407	Irregular distal femoral epiphysis
OMIM:154780	COL11A1	1301	HP:0002673	Coxa valga
OMIM:154780	COL11A1	1301	HP:0006456	Irregular proximal tibial epiphyses
OMIM:154780	COL11A1	1301	HP:0002986	Radial bowing
OMIM:154780	COL11A1	1301	HP:0000675	Macrodontia of permanent maxillary central incisor
OMIM:154780	COL11A1	1301	HP:0000926	Platyspondyly
OMIM:154780	COL11A1	1301	HP:0000215	Thick upper lip vermilion
OMIM:154780	COL11A1	1301	HP:0000201	Pierre-Robin sequence
OMIM:154780	COL11A1	1301	HP:0000347	Micrognathia
OMIM:154780	COL11A1	1301	HP:0004322	Short stature
OMIM:154780	COL11A1	1301	HP:0000179	Thick lower lip vermilion
OMIM:154780	COL11A1	1301	HP:0000369	Low-set ears
ORPHA:143	CDC73	79577	HP:0000939	Osteoporosis
ORPHA:143	CDC73	79577	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:143	CDC73	79577	HP:0000121	Nephrocalcinosis
ORPHA:143	CDC73	79577	HP:0001609	Hoarse voice
ORPHA:143	CDC73	79577	HP:0001824	Weight loss
ORPHA:143	CDC73	79577	HP:0008250	Infantile hypercalcemia
ORPHA:143	CDC73	79577	HP:0012378	Fatigue
ORPHA:143	CDC73	79577	HP:0000787	Nephrolithiasis
ORPHA:143	CDC73	79577	HP:0002150	Hypercalciuria
ORPHA:143	CDC73	79577	HP:0000131	Uterine leiomyoma
ORPHA:143	CDC73	79577	HP:0002015	Dysphagia
ORPHA:143	CDC73	79577	HP:0010614	Fibroma
ORPHA:143	CDC73	79577	HP:0012232	Shortened QT interval
ORPHA:143	CDC73	79577	HP:0002148	Hypophosphatemia
ORPHA:143	CDC73	79577	HP:0008200	Primary hyperparathyroidism
ORPHA:143	CDC73	79577	HP:0006780	Parathyroid carcinoma
ORPHA:143	CDC73	79577	HP:0001959	Polydipsia
OMIM:616589	DLL4	54567	HP:0001660	Truncus arteriosus
OMIM:616589	DLL4	54567	HP:0001849	Foot oligodactyly
OMIM:616589	DLL4	54567	HP:0000006	Autosomal dominant inheritance
OMIM:616589	DLL4	54567	HP:0001156	Brachydactyly
OMIM:616589	DLL4	54567	HP:0007385	Aplasia cutis congenita of scalp
OMIM:616589	DLL4	54567	HP:0005180	Tricuspid regurgitation
OMIM:616589	DLL4	54567	HP:0001159	Syndactyly
OMIM:616589	DLL4	54567	HP:0001362	Calvarial skull defect
OMIM:616589	DLL4	54567	HP:0001629	Ventricular septal defect
OMIM:214800	CHD7	55636	HP:0000589	Coloboma
OMIM:214800	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:214800	CHD7	55636	HP:0000321	Square face
OMIM:214800	CHD7	55636	HP:0000494	Downslanted palpebral fissures
OMIM:214800	CHD7	55636	HP:0001629	Ventricular septal defect
OMIM:214800	CHD7	55636	HP:0008213	Gonadotropin deficiency
OMIM:214800	CHD7	55636	HP:0000821	Hypothyroidism
OMIM:214800	CHD7	55636	HP:0000324	Facial asymmetry
OMIM:214800	CHD7	55636	HP:0000272	Malar flattening
OMIM:214800	CHD7	55636	HP:0000860	Parathyroid hypoplasia
OMIM:214800	CHD7	55636	HP:0001537	Umbilical hernia
OMIM:214800	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:214800	CHD7	55636	HP:0002247	Duodenal atresia
OMIM:214800	CHD7	55636	HP:0000085	Horseshoe kidney
OMIM:214800	CHD7	55636	HP:0001643	Patent ductus arteriosus
OMIM:214800	CHD7	55636	HP:0002901	Hypocalcemia
OMIM:214800	CHD7	55636	HP:0010628	Facial palsy
OMIM:214800	CHD7	55636	HP:0001636	Tetralogy of Fallot
OMIM:214800	CHD7	55636	HP:0004496	Posterior choanal atresia
OMIM:214800	CHD7	55636	HP:0000823	Delayed puberty
OMIM:214800	CHD7	55636	HP:0002015	Dysphagia
OMIM:214800	CHD7	55636	HP:0001888	Lymphopenia
OMIM:214800	CHD7	55636	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:214800	CHD7	55636	HP:0001719	Double outlet right ventricle
OMIM:214800	CHD7	55636	HP:0000054	Micropenis
OMIM:214800	CHD7	55636	HP:0011968	Feeding difficulties
OMIM:214800	CHD7	55636	HP:0000568	Microphthalmia
OMIM:214800	CHD7	55636	HP:0002032	Esophageal atresia
OMIM:214800	CHD7	55636	HP:0003812	Phenotypic variability
OMIM:214800	CHD7	55636	HP:0001642	Pulmonic stenosis
OMIM:214800	CHD7	55636	HP:0003745	Sporadic
OMIM:214800	CHD7	55636	HP:0008897	Postnatal growth retardation
OMIM:214800	CHD7	55636	HP:0000126	Hydronephrosis
OMIM:214800	CHD7	55636	HP:0000066	Labial hypoplasia
OMIM:214800	CHD7	55636	HP:0000458	Anosmia
OMIM:214800	CHD7	55636	HP:0001631	Atrial septal defect
OMIM:214800	SEMA3E	9723	HP:0000589	Coloboma
OMIM:214800	SEMA3E	9723	HP:0000028	Cryptorchidism
OMIM:214800	SEMA3E	9723	HP:0000321	Square face
OMIM:214800	SEMA3E	9723	HP:0000494	Downslanted palpebral fissures
OMIM:214800	SEMA3E	9723	HP:0001629	Ventricular septal defect
OMIM:214800	SEMA3E	9723	HP:0008213	Gonadotropin deficiency
OMIM:214800	SEMA3E	9723	HP:0000821	Hypothyroidism
OMIM:214800	SEMA3E	9723	HP:0000324	Facial asymmetry
OMIM:214800	SEMA3E	9723	HP:0000272	Malar flattening
OMIM:214800	SEMA3E	9723	HP:0000860	Parathyroid hypoplasia
OMIM:214800	SEMA3E	9723	HP:0001537	Umbilical hernia
OMIM:214800	SEMA3E	9723	HP:0000006	Autosomal dominant inheritance
OMIM:214800	SEMA3E	9723	HP:0002247	Duodenal atresia
OMIM:214800	SEMA3E	9723	HP:0000085	Horseshoe kidney
OMIM:214800	SEMA3E	9723	HP:0001643	Patent ductus arteriosus
OMIM:214800	SEMA3E	9723	HP:0002901	Hypocalcemia
OMIM:214800	SEMA3E	9723	HP:0010628	Facial palsy
OMIM:214800	SEMA3E	9723	HP:0001636	Tetralogy of Fallot
OMIM:214800	SEMA3E	9723	HP:0004496	Posterior choanal atresia
OMIM:214800	SEMA3E	9723	HP:0000823	Delayed puberty
OMIM:214800	SEMA3E	9723	HP:0002015	Dysphagia
OMIM:214800	SEMA3E	9723	HP:0001888	Lymphopenia
OMIM:214800	SEMA3E	9723	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:214800	SEMA3E	9723	HP:0001719	Double outlet right ventricle
OMIM:214800	SEMA3E	9723	HP:0000054	Micropenis
OMIM:214800	SEMA3E	9723	HP:0011968	Feeding difficulties
OMIM:214800	SEMA3E	9723	HP:0000568	Microphthalmia
OMIM:214800	SEMA3E	9723	HP:0002032	Esophageal atresia
OMIM:214800	SEMA3E	9723	HP:0003812	Phenotypic variability
OMIM:214800	SEMA3E	9723	HP:0001642	Pulmonic stenosis
OMIM:214800	SEMA3E	9723	HP:0003745	Sporadic
OMIM:214800	SEMA3E	9723	HP:0008897	Postnatal growth retardation
OMIM:214800	SEMA3E	9723	HP:0000126	Hydronephrosis
OMIM:214800	SEMA3E	9723	HP:0000066	Labial hypoplasia
OMIM:214800	SEMA3E	9723	HP:0000458	Anosmia
OMIM:214800	SEMA3E	9723	HP:0001631	Atrial septal defect
OMIM:605588	LMNA	4000	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:605588	LMNA	4000	HP:0001265	Hyporeflexia
OMIM:605588	LMNA	4000	HP:0003384	Peripheral axonal atrophy
OMIM:605588	LMNA	4000	HP:0003484	Upper limb muscle weakness
OMIM:605588	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:605588	LMNA	4000	HP:0001425	Heterogeneous
OMIM:605588	LMNA	4000	HP:0003693	Distal amyotrophy
OMIM:605588	LMNA	4000	HP:0003383	Onion bulb formation
OMIM:605588	LMNA	4000	HP:0003378	Axonal degeneration/regeneration
OMIM:605588	LMNA	4000	HP:0003674	Onset
OMIM:605588	LMNA	4000	HP:0009027	Foot dorsiflexor weakness
OMIM:605588	LMNA	4000	HP:0001761	Pes cavus
OMIM:605588	LMNA	4000	HP:0002751	Kyphoscoliosis
OMIM:605588	LMNA	4000	HP:0003376	Steppage gait
OMIM:605588	LMNA	4000	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605588	LMNA	4000	HP:0002460	Distal muscle weakness
OMIM:605588	LMNA	4000	HP:0002936	Distal sensory impairment
OMIM:605588	LMNA	4000	HP:0001284	Areflexia
OMIM:605588	LMNA	4000	HP:0003701	Proximal muscle weakness
OMIM:615985	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615985	TTC8	123016	HP:0000248	Brachycephaly
OMIM:615985	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615985	TTC8	123016	HP:0010442	Polydactyly
OMIM:615985	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615985	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615985	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615985	TTC8	123016	HP:0000047	Hypospadias
OMIM:615985	TTC8	123016	HP:0001513	Obesity
OMIM:615985	TTC8	123016	HP:0001263	Global developmental delay
OMIM:608099	SGCA	6442	HP:0008981	Calf muscle hypertrophy
OMIM:608099	SGCA	6442	HP:0003797	Limb-girdle muscle atrophy
OMIM:608099	SGCA	6442	HP:0006785	Limb-girdle muscular dystrophy
OMIM:608099	SGCA	6442	HP:0003325	Limb-girdle muscle weakness
OMIM:608099	SGCA	6442	HP:0002317	Unsteady gait
OMIM:608099	SGCA	6442	HP:0003458	EMG: myopathic abnormalities
OMIM:608099	SGCA	6442	HP:0003621	Juvenile onset
OMIM:608099	SGCA	6442	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608099	SGCA	6442	HP:0001371	Flexion contracture
OMIM:608099	SGCA	6442	HP:0003676	Progressive
OMIM:608099	SGCA	6442	HP:0003828	Variable expressivity
OMIM:608099	SGCA	6442	HP:0000007	Autosomal recessive inheritance
OMIM:615095	ZNF335	63925	HP:0000252	Microcephaly
OMIM:615095	ZNF335	63925	HP:0012736	Profound global developmental delay
OMIM:615095	ZNF335	63925	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615095	ZNF335	63925	HP:0000347	Micrognathia
OMIM:615095	ZNF335	63925	HP:0001272	Cerebellar atrophy
OMIM:615095	ZNF335	63925	HP:0002171	Gliosis
OMIM:615095	ZNF335	63925	HP:0001511	Intrauterine growth retardation
OMIM:615095	ZNF335	63925	HP:0001518	Small for gestational age
OMIM:615095	ZNF335	63925	HP:0003577	Congenital onset
OMIM:615095	ZNF335	63925	HP:0002059	Cerebral atrophy
OMIM:615095	ZNF335	63925	HP:0000340	Sloping forehead
OMIM:615095	ZNF335	63925	HP:0000426	Prominent nasal bridge
OMIM:615095	ZNF335	63925	HP:0000453	Choanal atresia
OMIM:615095	ZNF335	63925	HP:0011344	Severe global developmental delay
OMIM:615095	ZNF335	63925	HP:0000518	Cataract
OMIM:615095	ZNF335	63925	HP:0000007	Autosomal recessive inheritance
OMIM:615095	ZNF335	63925	HP:0001257	Spasticity
OMIM:615095	ZNF335	63925	HP:0012448	Delayed myelination
ORPHA:701	HR	55806	HP:0002223	Absent eyebrow
ORPHA:701	HR	55806	HP:0002229	Alopecia areata
ORPHA:701	HR	55806	HP:0002289	Alopecia universalis
ORPHA:701	HR	55806	HP:0000561	Absent eyelashes
OMIM:613830	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:613830	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
ORPHA:766	PKLR	5313	HP:0004870	Chronic hemolytic anemia
ORPHA:766	PKLR	5313	HP:0008282	Unconjugated hyperbilirubinemia
ORPHA:766	PKLR	5313	HP:0001744	Splenomegaly
ORPHA:766	PKLR	5313	HP:0003452	Increased serum iron
ORPHA:766	PKLR	5313	HP:0006579	Prolonged neonatal jaundice
ORPHA:766	PKLR	5313	HP:0001789	Hydrops fetalis
ORPHA:766	PKLR	5313	HP:0025109	Reduced red cell pyruvate kinase activity
ORPHA:766	PKLR	5313	HP:0004804	Congenital hemolytic anemia
ORPHA:766	PKLR	5313	HP:0001923	Reticulocytosis
ORPHA:766	PKLR	5313	HP:0003281	Increased serum ferritin
ORPHA:293843	MASP1	5648	HP:0002714	Downturned corners of mouth
ORPHA:293843	MASP1	5648	HP:0000581	Blepharophimosis
ORPHA:293843	MASP1	5648	HP:0008689	Bilateral cryptorchidism
ORPHA:293843	MASP1	5648	HP:0001540	Diastasis recti
ORPHA:293843	MASP1	5648	HP:0000494	Downslanted palpebral fissures
ORPHA:293843	MASP1	5648	HP:0000506	Telecanthus
ORPHA:293843	MASP1	5648	HP:0003307	Hyperlordosis
ORPHA:293843	MASP1	5648	HP:0000316	Hypertelorism
ORPHA:293843	MASP1	5648	HP:0002265	Large fleshy ears
ORPHA:293843	MASP1	5648	HP:0006394	Limited pronation/supination of forearm
ORPHA:293843	MASP1	5648	HP:0002650	Scoliosis
ORPHA:293843	MASP1	5648	HP:0000537	Epicanthus inversus
ORPHA:293843	MASP1	5648	HP:0002974	Radioulnar synostosis
ORPHA:293843	MASP1	5648	HP:0000508	Ptosis
ORPHA:293843	MASP1	5648	HP:0000202	Oral cleft
ORPHA:293843	MASP1	5648	HP:0000593	Abnormality of the anterior chamber
ORPHA:293843	MASP1	5648	HP:0008897	Postnatal growth retardation
ORPHA:293843	MASP1	5648	HP:0001249	Intellectual disability
ORPHA:293843	MASP1	5648	HP:0000365	Hearing impairment
ORPHA:293843	MASP1	5648	HP:0003298	Spina bifida occulta
ORPHA:293843	MASP1	5648	HP:0001363	Craniosynostosis
ORPHA:293843	MASP1	5648	HP:0002558	Supernumerary nipple
ORPHA:293843	COLEC10	10584	HP:0002714	Downturned corners of mouth
ORPHA:293843	COLEC10	10584	HP:0000581	Blepharophimosis
ORPHA:293843	COLEC10	10584	HP:0008689	Bilateral cryptorchidism
ORPHA:293843	COLEC10	10584	HP:0001540	Diastasis recti
ORPHA:293843	COLEC10	10584	HP:0000494	Downslanted palpebral fissures
ORPHA:293843	COLEC10	10584	HP:0000506	Telecanthus
ORPHA:293843	COLEC10	10584	HP:0003307	Hyperlordosis
ORPHA:293843	COLEC10	10584	HP:0000316	Hypertelorism
ORPHA:293843	COLEC10	10584	HP:0002265	Large fleshy ears
ORPHA:293843	COLEC10	10584	HP:0006394	Limited pronation/supination of forearm
ORPHA:293843	COLEC10	10584	HP:0002650	Scoliosis
ORPHA:293843	COLEC10	10584	HP:0000537	Epicanthus inversus
ORPHA:293843	COLEC10	10584	HP:0002974	Radioulnar synostosis
ORPHA:293843	COLEC10	10584	HP:0000508	Ptosis
ORPHA:293843	COLEC10	10584	HP:0000202	Oral cleft
ORPHA:293843	COLEC10	10584	HP:0000593	Abnormality of the anterior chamber
ORPHA:293843	COLEC10	10584	HP:0008897	Postnatal growth retardation
ORPHA:293843	COLEC10	10584	HP:0001249	Intellectual disability
ORPHA:293843	COLEC10	10584	HP:0000365	Hearing impairment
ORPHA:293843	COLEC10	10584	HP:0003298	Spina bifida occulta
ORPHA:293843	COLEC10	10584	HP:0001363	Craniosynostosis
ORPHA:293843	COLEC10	10584	HP:0002558	Supernumerary nipple
ORPHA:293843	COLEC11	78989	HP:0002714	Downturned corners of mouth
ORPHA:293843	COLEC11	78989	HP:0000581	Blepharophimosis
ORPHA:293843	COLEC11	78989	HP:0008689	Bilateral cryptorchidism
ORPHA:293843	COLEC11	78989	HP:0001540	Diastasis recti
ORPHA:293843	COLEC11	78989	HP:0000494	Downslanted palpebral fissures
ORPHA:293843	COLEC11	78989	HP:0000506	Telecanthus
ORPHA:293843	COLEC11	78989	HP:0003307	Hyperlordosis
ORPHA:293843	COLEC11	78989	HP:0000316	Hypertelorism
ORPHA:293843	COLEC11	78989	HP:0002265	Large fleshy ears
ORPHA:293843	COLEC11	78989	HP:0006394	Limited pronation/supination of forearm
ORPHA:293843	COLEC11	78989	HP:0002650	Scoliosis
ORPHA:293843	COLEC11	78989	HP:0000537	Epicanthus inversus
ORPHA:293843	COLEC11	78989	HP:0002974	Radioulnar synostosis
ORPHA:293843	COLEC11	78989	HP:0000508	Ptosis
ORPHA:293843	COLEC11	78989	HP:0000202	Oral cleft
ORPHA:293843	COLEC11	78989	HP:0000593	Abnormality of the anterior chamber
ORPHA:293843	COLEC11	78989	HP:0008897	Postnatal growth retardation
ORPHA:293843	COLEC11	78989	HP:0001249	Intellectual disability
ORPHA:293843	COLEC11	78989	HP:0000365	Hearing impairment
ORPHA:293843	COLEC11	78989	HP:0003298	Spina bifida occulta
ORPHA:293843	COLEC11	78989	HP:0001363	Craniosynostosis
ORPHA:293843	COLEC11	78989	HP:0002558	Supernumerary nipple
OMIM:186500	NOG	9241	HP:0010554	Cutaneous finger syndactyly
OMIM:186500	NOG	9241	HP:0002515	Waddling gait
OMIM:186500	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:186500	NOG	9241	HP:0003083	Dislocated radial head
OMIM:186500	NOG	9241	HP:0000215	Thick upper lip vermilion
OMIM:186500	NOG	9241	HP:0000430	Underdeveloped nasal alae
OMIM:186500	NOG	9241	HP:0000920	Enlargement of the costochondral junction
OMIM:186500	NOG	9241	HP:0000219	Thin upper lip vermilion
OMIM:186500	NOG	9241	HP:0003468	Abnormal vertebral morphology
OMIM:186500	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:186500	NOG	9241	HP:0006385	Short lower limbs
OMIM:186500	NOG	9241	HP:0010109	Short hallux
OMIM:186500	NOG	9241	HP:0006152	Proximal symphalangism of hands
OMIM:186500	NOG	9241	HP:0009466	Radial deviation of finger
OMIM:186500	NOG	9241	HP:0000954	Single transverse palmar crease
OMIM:186500	NOG	9241	HP:0009702	Carpal synostosis
OMIM:186500	NOG	9241	HP:0000767	Pectus excavatum
OMIM:186500	NOG	9241	HP:0001156	Brachydactyly
OMIM:186500	NOG	9241	HP:0030084	Clinodactyly
OMIM:186500	NOG	9241	HP:0005792	Short humerus
OMIM:186500	NOG	9241	HP:0000275	Narrow face
OMIM:186500	NOG	9241	HP:0005807	Absent distal phalanges
OMIM:186500	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:186500	NOG	9241	HP:0000879	Short sternum
OMIM:186500	NOG	9241	HP:0008607	Progressive conductive hearing impairment
OMIM:186500	NOG	9241	HP:0001773	Short foot
OMIM:186500	NOG	9241	HP:0005104	Hypoplastic nasal septum
OMIM:186500	NOG	9241	HP:0006187	Fusion of midphalangeal joints
OMIM:186500	NOG	9241	HP:0000486	Strabismus
OMIM:186500	NOG	9241	HP:0004691	2-3 toe syndactyly
OMIM:186500	NOG	9241	HP:0008460	Hypoplastic spinal processes
OMIM:186500	NOG	9241	HP:0001032	Absent distal interphalangeal creases
OMIM:186500	NOG	9241	HP:0002967	Cubitus valgus
OMIM:186500	NOG	9241	HP:0009816	Lower limb undergrowth
OMIM:186500	NOG	9241	HP:0000322	Short philtrum
OMIM:186500	NOG	9241	HP:0010624	Aplastic/hypoplastic toenail
OMIM:186500	NOG	9241	HP:0001798	Anonychia
OMIM:186500	NOG	9241	HP:0003416	Spinal canal stenosis
OMIM:186500	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:616030	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:616030	FEZF1	389549	HP:0000135	Hypogonadism
OMIM:616030	FEZF1	389549	HP:0000458	Anosmia
OMIM:616030	FEZF1	389549	HP:0000007	Autosomal recessive inheritance
OMIM:616030	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:616030	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:616030	FEZF1	389549	HP:0000054	Micropenis
OMIM:616028	NOTCH1	4851	HP:0001048	Cavernous hemangioma
OMIM:616028	NOTCH1	4851	HP:0001159	Syndactyly
OMIM:616028	NOTCH1	4851	HP:0025107	Cutis marmorata telangiectatica congenita
OMIM:616028	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:616028	NOTCH1	4851	HP:0001810	Dystrophic toenail
OMIM:616028	NOTCH1	4851	HP:0001156	Brachydactyly
OMIM:616028	NOTCH1	4851	HP:0001642	Pulmonic stenosis
OMIM:616028	NOTCH1	4851	HP:0002092	Pulmonary arterial hypertension
OMIM:616028	NOTCH1	4851	HP:0001667	Right ventricular hypertrophy
OMIM:616028	NOTCH1	4851	HP:0003812	Phenotypic variability
OMIM:229300	FXN	2395	HP:0002495	Impaired vibratory sensation
OMIM:229300	FXN	2395	HP:0000007	Autosomal recessive inheritance
OMIM:229300	FXN	2395	HP:0010831	Impaired proprioception
OMIM:229300	FXN	2395	HP:0003209	Decreased pyruvate carboxylase activity
OMIM:229300	FXN	2395	HP:0003621	Juvenile onset
OMIM:229300	FXN	2395	HP:0001635	Congestive heart failure
OMIM:229300	FXN	2395	HP:0001761	Pes cavus
OMIM:229300	FXN	2395	HP:0000819	Diabetes mellitus
OMIM:229300	FXN	2395	HP:0003115	Abnormal EKG
OMIM:229300	FXN	2395	HP:0002066	Gait ataxia
OMIM:229300	FXN	2395	HP:0003116	Abnormal echocardiogram
OMIM:229300	FXN	2395	HP:0003487	Babinski sign
OMIM:229300	FXN	2395	HP:0001639	Hypertrophic cardiomyopathy
OMIM:229300	FXN	2395	HP:0000763	Sensory neuropathy
OMIM:229300	FXN	2395	HP:0002070	Limb ataxia
OMIM:229300	FXN	2395	HP:0000649	Abnormality of visual evoked potentials
OMIM:229300	FXN	2395	HP:0002650	Scoliosis
OMIM:229300	FXN	2395	HP:0003232	Mitochondrial malic enzyme reduced
OMIM:229300	FXN	2395	HP:0007078	Decreased amplitude of sensory action potentials
OMIM:229300	FXN	2395	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:229300	FXN	2395	HP:0002522	Areflexia of lower limbs
OMIM:229300	FXN	2395	HP:0001260	Dysarthria
OMIM:229300	FXN	2395	HP:0001123	Visual field defect
OMIM:229300	FXN	2395	HP:0000639	Nystagmus
OMIM:229300	FXN	2395	HP:0000648	Optic atrophy
OMIM:267300	ATP6V1B1	525	HP:0000787	Nephrolithiasis
OMIM:267300	ATP6V1B1	525	HP:0001947	Renal tubular acidosis
OMIM:267300	ATP6V1B1	525	HP:0000007	Autosomal recessive inheritance
OMIM:267300	ATP6V1B1	525	HP:0000407	Sensorineural hearing impairment
OMIM:611788	ACTA2	59	HP:0004942	Aortic aneurysm
OMIM:611788	ACTA2	59	HP:0004933	Ascending aortic dissection
OMIM:611788	ACTA2	59	HP:0011834	Moyamoya phenomenon
OMIM:611788	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:611788	ACTA2	59	HP:0002631	Dilatation of ascending aorta
OMIM:610896	SIX5	147912	HP:0000110	Renal dysplasia
OMIM:610896	SIX5	147912	HP:0000006	Autosomal dominant inheritance
OMIM:610896	SIX5	147912	HP:0000365	Hearing impairment
OMIM:610896	SIX5	147912	HP:0000384	Preauricular skin tag
OMIM:610896	SIX5	147912	HP:0011332	Hemifacial hypoplasia
OMIM:610896	SIX5	147912	HP:0000083	Renal insufficiency
ORPHA:1571	COL18A1	80781	HP:0000545	Myopia
ORPHA:1571	COL18A1	80781	HP:0000639	Nystagmus
ORPHA:1571	COL18A1	80781	HP:0000608	Macular degeneration
ORPHA:1571	COL18A1	80781	HP:0000655	Vitreoretinal degeneration
ORPHA:1571	COL18A1	80781	HP:0000541	Retinal detachment
ORPHA:1571	COL18A1	80781	HP:0001362	Calvarial skull defect
ORPHA:1571	COL18A1	80781	HP:0002085	Occipital encephalocele
ORPHA:1571	COL18A1	80781	HP:0004327	Abnormality of the vitreous humor
ORPHA:1571	COL18A1	80781	HP:0000529	Progressive visual loss
ORPHA:1571	COL18A1	80781	HP:0000238	Hydrocephalus
OMIM:615085	SNX10	29887	HP:0001508	Failure to thrive
OMIM:615085	SNX10	29887	HP:0000007	Autosomal recessive inheritance
OMIM:615085	SNX10	29887	HP:0000256	Macrocephaly
OMIM:615085	SNX10	29887	HP:0000648	Optic atrophy
OMIM:615085	SNX10	29887	HP:0001873	Thrombocytopenia
OMIM:615085	SNX10	29887	HP:0001903	Anemia
OMIM:615085	SNX10	29887	HP:0002240	Hepatomegaly
OMIM:615085	SNX10	29887	HP:0001744	Splenomegaly
OMIM:615085	SNX10	29887	HP:0011968	Feeding difficulties
OMIM:615085	SNX10	29887	HP:0011002	Osteopetrosis
OMIM:615085	SNX10	29887	HP:0010628	Facial palsy
OMIM:615085	SNX10	29887	HP:0002007	Frontal bossing
OMIM:614180	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:614180	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CLRN1	7401	HP:0000505	Visual impairment
OMIM:614180	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:614180	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613820	TTC21B	79809	HP:0000006	Autosomal dominant inheritance
OMIM:613820	TTC21B	79809	HP:0000090	Nephronophthisis
OMIM:613820	TTC21B	79809	HP:0003774	Stage 5 chronic kidney disease
OMIM:613820	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
ORPHA:678	CTSC	1075	HP:0006323	Premature loss of primary teeth
ORPHA:678	CTSC	1075	HP:0001231	Abnormality of the fingernails
ORPHA:678	CTSC	1075	HP:0008404	Nail dystrophy
ORPHA:678	CTSC	1075	HP:0006308	Atrophy of alveolar ridges
ORPHA:678	CTSC	1075	HP:0002205	Recurrent respiratory infections
ORPHA:678	CTSC	1075	HP:0000972	Palmoplantar hyperkeratosis
ORPHA:678	CTSC	1075	HP:0011132	Chronic furunculosis
ORPHA:678	CTSC	1075	HP:0000166	Severe periodontitis
ORPHA:678	CTSC	1075	HP:0009804	Reduced number of teeth
ORPHA:678	CTSC	1075	HP:0000230	Gingivitis
ORPHA:678	CTSC	1075	HP:0100838	Recurrent cutaneous abscess formation
ORPHA:678	CTSC	1075	HP:0002514	Cerebral calcification
ORPHA:678	CTSC	1075	HP:0000982	Palmoplantar keratoderma
ORPHA:678	CTSC	1075	HP:0200039	Pustule
OMIM:614305	LRP4	4038	HP:0002007	Frontal bossing
OMIM:614305	LRP4	4038	HP:0010628	Facial palsy
OMIM:614305	LRP4	4038	HP:0000006	Autosomal dominant inheritance
OMIM:614305	LRP4	4038	HP:0000303	Mandibular prognathia
OMIM:614305	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:614305	LRP4	4038	HP:0000365	Hearing impairment
OMIM:614305	LRP4	4038	HP:0002164	Nail dysplasia
OMIM:614305	LRP4	4038	HP:0009381	Short finger
OMIM:614305	LRP4	4038	HP:0000316	Hypertelorism
OMIM:614305	LRP4	4038	HP:0010554	Cutaneous finger syndactyly
OMIM:614305	LRP4	4038	HP:0000256	Macrocephaly
OMIM:615181	B3GALNT2	148789	HP:0000618	Blindness
OMIM:615181	B3GALNT2	148789	HP:0002350	Cerebellar cyst
OMIM:615181	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:615181	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:615181	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:615181	B3GALNT2	148789	HP:0000518	Cataract
OMIM:615181	B3GALNT2	148789	HP:0000545	Myopia
OMIM:615181	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615181	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:615181	B3GALNT2	148789	HP:0012110	Hypoplasia of the pons
OMIM:615181	B3GALNT2	148789	HP:0000609	Optic nerve hypoplasia
OMIM:615181	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:615181	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:615181	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:615181	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:615181	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:615181	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:615181	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:148500	RHBDF2	79651	HP:0007447	Diffuse palmoplantar hyperkeratosis
OMIM:148500	RHBDF2	79651	HP:0001036	Parakeratosis
OMIM:148500	RHBDF2	79651	HP:0000006	Autosomal dominant inheritance
OMIM:148500	RHBDF2	79651	HP:0000153	Abnormality of the mouth
OMIM:148500	RHBDF2	79651	HP:0011459	Esophageal carcinoma
OMIM:231530	HADH	3033	HP:0002173	Hypoglycemic seizures
OMIM:231530	HADH	3033	HP:0001644	Dilated cardiomyopathy
OMIM:231530	HADH	3033	HP:0002913	Myoglobinuria
OMIM:231530	HADH	3033	HP:0003215	Dicarboxylic aciduria
OMIM:231530	HADH	3033	HP:0001985	Hypoketotic hypoglycemia
OMIM:231530	HADH	3033	HP:0002605	Hepatic necrosis
OMIM:231530	HADH	3033	HP:0008872	Feeding difficulties in infancy
OMIM:231530	HADH	3033	HP:0001397	Hepatic steatosis
OMIM:231530	HADH	3033	HP:0004448	Fulminant hepatic failure
OMIM:231530	HADH	3033	HP:0000007	Autosomal recessive inheritance
OMIM:231530	HADH	3033	HP:0001252	Muscular hypotonia
OMIM:231530	HADH	3033	HP:0003812	Phenotypic variability
OMIM:231530	HADH	3033	HP:0001510	Growth delay
OMIM:231530	HADH	3033	HP:0001639	Hypertrophic cardiomyopathy
OMIM:231530	HADH	3033	HP:0006929	Hypoglycemic encephalopathy
OMIM:605027	RAD54L	8438	HP:0002665	Lymphoma
OMIM:605027	CASP10	843	HP:0002665	Lymphoma
OMIM:605027	RAD54B	25788	HP:0002665	Lymphoma
OMIM:605027	PRF1	5551	HP:0002665	Lymphoma
OMIM:609310	MLH1	4292	HP:0003003	Colon cancer
OMIM:609310	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:616579	CHAMP1	283489	HP:0000232	Everted lower lip vermilion
OMIM:616579	CHAMP1	283489	HP:0000286	Epicanthus
OMIM:616579	CHAMP1	283489	HP:0002020	Gastroesophageal reflux
OMIM:616579	CHAMP1	283489	HP:0010804	Tented upper lip vermilion
OMIM:616579	CHAMP1	283489	HP:0000297	Facial hypotonia
OMIM:616579	CHAMP1	283489	HP:0001382	Joint hypermobility
OMIM:616579	CHAMP1	283489	HP:0000276	Long face
OMIM:616579	CHAMP1	283489	HP:0002066	Gait ataxia
OMIM:616579	CHAMP1	283489	HP:0001263	Global developmental delay
OMIM:616579	CHAMP1	283489	HP:0000369	Low-set ears
OMIM:616579	CHAMP1	283489	HP:0000307	Pointed chin
OMIM:616579	CHAMP1	283489	HP:0000540	Hypermetropia
OMIM:616579	CHAMP1	283489	HP:0001249	Intellectual disability
OMIM:616579	CHAMP1	283489	HP:0000006	Autosomal dominant inheritance
OMIM:616579	CHAMP1	283489	HP:0000252	Microcephaly
OMIM:616579	CHAMP1	283489	HP:0000733	Stereotypy
OMIM:616579	CHAMP1	283489	HP:0000486	Strabismus
OMIM:616579	CHAMP1	283489	HP:0011968	Feeding difficulties
OMIM:616579	CHAMP1	283489	HP:0001290	Generalized hypotonia
OMIM:616579	CHAMP1	283489	HP:0000322	Short philtrum
OMIM:616579	CHAMP1	283489	HP:0003577	Congenital onset
OMIM:616579	CHAMP1	283489	HP:0000218	High palate
OMIM:616579	CHAMP1	283489	HP:0007328	Impaired pain sensation
OMIM:616579	CHAMP1	283489	HP:0000194	Open mouth
OMIM:616579	CHAMP1	283489	HP:0002205	Recurrent respiratory infections
OMIM:616579	CHAMP1	283489	HP:0000582	Upslanted palpebral fissure
OMIM:610623	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:610623	PITX3	5309	HP:0000568	Microphthalmia
OMIM:610623	PITX3	5309	HP:0000518	Cataract
OMIM:613779	C3	718	HP:0000007	Autosomal recessive inheritance
OMIM:613779	C3	718	HP:0005421	Decreased serum complement C3
OMIM:613779	C3	718	HP:0000100	Nephrotic syndrome
OMIM:613779	C3	718	HP:0000083	Renal insufficiency
OMIM:613779	C3	718	HP:0002718	Recurrent bacterial infections
OMIM:610476	DSC2	1824	HP:0000982	Palmoplantar keratoderma
OMIM:610476	DSC2	1824	HP:0002094	Dyspnea
OMIM:610476	DSC2	1824	HP:0011663	Right ventricular cardiomyopathy
OMIM:610476	DSC2	1824	HP:0000006	Autosomal dominant inheritance
OMIM:610476	DSC2	1824	HP:0001279	Syncope
OMIM:610476	DSC2	1824	HP:0002224	Woolly hair
OMIM:610476	DSC2	1824	HP:0000007	Autosomal recessive inheritance
OMIM:610476	DSC2	1824	HP:0004308	Ventricular arrhythmia
OMIM:610476	DSC2	1824	HP:0001645	Sudden cardiac death
OMIM:610476	DSC2	1824	HP:0001962	Palpitations
OMIM:604145	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:601198	CASR	846	HP:0002917	Hypomagnesemia
OMIM:601198	CASR	846	HP:0000121	Nephrocalcinosis
OMIM:601198	CASR	846	HP:0001250	Seizures
OMIM:601198	CASR	846	HP:0001281	Tetany
OMIM:601198	CASR	846	HP:0002135	Basal ganglia calcification
OMIM:601198	CASR	846	HP:0003401	Paresthesia
OMIM:601198	CASR	846	HP:0012211	Abnormal renal physiology
OMIM:601198	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:601198	CASR	846	HP:0003394	Muscle cramps
OMIM:601198	CASR	846	HP:0000787	Nephrolithiasis
OMIM:601198	CASR	846	HP:0002150	Hypercalciuria
OMIM:601198	CASR	846	HP:0002901	Hypocalcemia
ORPHA:226	QDPR	5860	HP:0001249	Intellectual disability
ORPHA:226	QDPR	5860	HP:0001263	Global developmental delay
ORPHA:226	QDPR	5860	HP:0000252	Microcephaly
ORPHA:226	QDPR	5860	HP:0002015	Dysphagia
ORPHA:97297	ASXL1	171023	HP:0000444	Convex nasal ridge
ORPHA:97297	ASXL1	171023	HP:0000593	Abnormality of the anterior chamber
ORPHA:97297	ASXL1	171023	HP:0002020	Gastroesophageal reflux
ORPHA:97297	ASXL1	171023	HP:0010864	Intellectual disability, severe
ORPHA:97297	ASXL1	171023	HP:0005487	Prominent metopic ridge
ORPHA:97297	ASXL1	171023	HP:0000664	Synophrys
ORPHA:97297	ASXL1	171023	HP:0002566	Intestinal malrotation
ORPHA:97297	ASXL1	171023	HP:0000278	Retrognathia
ORPHA:97297	ASXL1	171023	HP:0001263	Global developmental delay
ORPHA:97297	ASXL1	171023	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:97297	ASXL1	171023	HP:0000369	Low-set ears
ORPHA:97297	ASXL1	171023	HP:0001508	Failure to thrive
ORPHA:97297	ASXL1	171023	HP:0006610	Wide intermamillary distance
ORPHA:97297	ASXL1	171023	HP:0100874	Thick hair
ORPHA:97297	ASXL1	171023	HP:0002558	Supernumerary nipple
ORPHA:97297	ASXL1	171023	HP:0002120	Cerebral cortical atrophy
ORPHA:97297	ASXL1	171023	HP:0010306	Short thorax
ORPHA:97297	ASXL1	171023	HP:0000582	Upslanted palpebral fissure
ORPHA:97297	ASXL1	171023	HP:0000520	Proptosis
ORPHA:97297	ASXL1	171023	HP:0001250	Seizures
ORPHA:97297	ASXL1	171023	HP:0000293	Full cheeks
ORPHA:97297	ASXL1	171023	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:97297	ASXL1	171023	HP:0003042	Elbow dislocation
ORPHA:97297	ASXL1	171023	HP:0000774	Narrow chest
ORPHA:97297	ASXL1	171023	HP:0000488	Retinopathy
ORPHA:97297	ASXL1	171023	HP:0000926	Platyspondyly
ORPHA:97297	ASXL1	171023	HP:0000486	Strabismus
ORPHA:97297	ASXL1	171023	HP:0000294	Low anterior hairline
ORPHA:97297	ASXL1	171023	HP:0007413	Nevus flammeus of the forehead
ORPHA:97297	ASXL1	171023	HP:0100490	Camptodactyly of finger
ORPHA:97297	ASXL1	171023	HP:0000431	Wide nasal bridge
ORPHA:97297	ASXL1	171023	HP:0004422	Biparietal narrowing
ORPHA:97297	ASXL1	171023	HP:0001376	Limitation of joint mobility
ORPHA:97297	ASXL1	171023	HP:0000204	Cleft upper lip
ORPHA:97297	ASXL1	171023	HP:0001732	Abnormality of the pancreas
ORPHA:97297	ASXL1	171023	HP:0000252	Microcephaly
ORPHA:97297	ASXL1	171023	HP:0000316	Hypertelorism
ORPHA:97297	ASXL1	171023	HP:0000191	Accessory oral frenulum
ORPHA:97297	ASXL1	171023	HP:0011968	Feeding difficulties
ORPHA:97297	ASXL1	171023	HP:0009465	Ulnar deviation of finger
ORPHA:97297	ASXL1	171023	HP:0001522	Death in infancy
ORPHA:97297	ASXL1	171023	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:97297	ASXL1	171023	HP:0001511	Intrauterine growth retardation
ORPHA:97297	ASXL1	171023	HP:0000175	Cleft palate
ORPHA:97297	ASXL1	171023	HP:0000243	Trigonocephaly
OMIM:612285	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:612285	CC2D2A	57545	HP:0000518	Cataract
OMIM:612285	CC2D2A	57545	HP:0002119	Ventriculomegaly
OMIM:612285	CC2D2A	57545	HP:0000483	Astigmatism
OMIM:612285	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:612285	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:612285	CC2D2A	57545	HP:0000510	Rod-cone dystrophy
OMIM:612285	CC2D2A	57545	HP:0001249	Intellectual disability
OMIM:615578	SFXN4	119559	HP:0001249	Intellectual disability
OMIM:615578	SFXN4	119559	HP:0000750	Delayed speech and language development
OMIM:615578	SFXN4	119559	HP:0003128	Lactic acidosis
OMIM:615578	SFXN4	119559	HP:0001256	Intellectual disability, mild
OMIM:615578	SFXN4	119559	HP:0001337	Tremor
OMIM:615578	SFXN4	119559	HP:0000007	Autosomal recessive inheritance
OMIM:615578	SFXN4	119559	HP:0001511	Intrauterine growth retardation
OMIM:615578	SFXN4	119559	HP:0003202	Skeletal muscle atrophy
OMIM:615578	SFXN4	119559	HP:0000505	Visual impairment
OMIM:615578	SFXN4	119559	HP:0002151	Increased serum lactate
OMIM:615578	SFXN4	119559	HP:0001310	Dysmetria
OMIM:615578	SFXN4	119559	HP:0003828	Variable expressivity
OMIM:615578	SFXN4	119559	HP:0001290	Generalized hypotonia
OMIM:603218	PRNP	5621	HP:0000718	Aggressive behavior
OMIM:603218	PRNP	5621	HP:0002317	Unsteady gait
OMIM:603218	PRNP	5621	HP:0001260	Dysarthria
OMIM:603218	PRNP	5621	HP:0000739	Anxiety
OMIM:603218	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:603218	PRNP	5621	HP:0000746	Delusions
OMIM:603218	PRNP	5621	HP:0002311	Incoordination
OMIM:603218	PRNP	5621	HP:0006999	Basal ganglia gliosis
OMIM:603218	PRNP	5621	HP:0002063	Rigidity
OMIM:603218	PRNP	5621	HP:0002072	Chorea
OMIM:603218	PRNP	5621	HP:0002283	Global brain atrophy
OMIM:603218	PRNP	5621	HP:0000726	Dementia
OMIM:603218	PRNP	5621	HP:0000751	Personality changes
OMIM:603218	PRNP	5621	HP:0000711	Restlessness
OMIM:603218	PRNP	5621	HP:0000716	Depressivity
OMIM:603218	PRNP	5621	HP:0001310	Dysmetria
OMIM:613865	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:273750	CUL7	9820	HP:0000272	Malar flattening
OMIM:273750	CUL7	9820	HP:0002007	Frontal bossing
OMIM:273750	CUL7	9820	HP:0003100	Slender long bone
OMIM:273750	CUL7	9820	HP:0008839	Hypoplastic pelvis
OMIM:273750	CUL7	9820	HP:0000007	Autosomal recessive inheritance
OMIM:273750	CUL7	9820	HP:0001511	Intrauterine growth retardation
OMIM:273750	CUL7	9820	HP:0003307	Hyperlordosis
OMIM:273750	CUL7	9820	HP:0000303	Mandibular prognathia
OMIM:273750	CUL7	9820	HP:0002750	Delayed skeletal maturation
OMIM:273750	CUL7	9820	HP:0001763	Pes planus
OMIM:273750	CUL7	9820	HP:0004570	Increased vertebral height
OMIM:273750	CUL7	9820	HP:0008734	Decreased testicular size
OMIM:273750	CUL7	9820	HP:0000307	Pointed chin
OMIM:273750	CUL7	9820	HP:0004209	Clinodactyly of the 5th finger
OMIM:273750	CUL7	9820	HP:0000179	Thick lower lip vermilion
OMIM:273750	CUL7	9820	HP:0002827	Hip dislocation
OMIM:273750	CUL7	9820	HP:0010306	Short thorax
OMIM:273750	CUL7	9820	HP:0000325	Triangular face
OMIM:273750	CUL7	9820	HP:0003298	Spina bifida occulta
OMIM:273750	CUL7	9820	HP:0000268	Dolichocephaly
OMIM:273750	CUL7	9820	HP:0004322	Short stature
OMIM:273750	CUL7	9820	HP:0009237	Short 5th finger
OMIM:273750	CUL7	9820	HP:0005280	Depressed nasal bridge
OMIM:273750	CUL7	9820	HP:0002643	Neonatal respiratory distress
OMIM:273750	CUL7	9820	HP:0000470	Short neck
OMIM:273750	CUL7	9820	HP:0000767	Pectus excavatum
OMIM:273750	CUL7	9820	HP:0000343	Long philtrum
OMIM:273750	CUL7	9820	HP:0000574	Thick eyebrow
OMIM:273750	CUL7	9820	HP:0000463	Anteverted nares
OMIM:273750	CUL7	9820	HP:0003691	Scapular winging
OMIM:273750	CUL7	9820	HP:0000047	Hypospadias
OMIM:273750	CUL7	9820	HP:0001382	Joint hypermobility
OMIM:273750	CUL7	9820	HP:0001518	Small for gestational age
OMIM:273750	CUL7	9820	HP:0000773	Short ribs
OMIM:273750	CUL7	9820	HP:0008897	Postnatal growth retardation
OMIM:613286	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:614219	DOCK6	57572	HP:0001290	Generalized hypotonia
OMIM:614219	DOCK6	57572	HP:0000316	Hypertelorism
OMIM:614219	DOCK6	57572	HP:0000965	Cutis marmorata
OMIM:614219	DOCK6	57572	HP:0000252	Microcephaly
OMIM:614219	DOCK6	57572	HP:0000007	Autosomal recessive inheritance
OMIM:614219	DOCK6	57572	HP:0000294	Low anterior hairline
OMIM:614219	DOCK6	57572	HP:0000414	Bulbous nose
OMIM:614219	DOCK6	57572	HP:0045025	Narrow palpebral fissure
OMIM:614219	DOCK6	57572	HP:0000954	Single transverse palmar crease
OMIM:614219	DOCK6	57572	HP:0005280	Depressed nasal bridge
OMIM:614219	DOCK6	57572	HP:0001250	Seizures
OMIM:614219	DOCK6	57572	HP:0000347	Micrognathia
OMIM:614219	DOCK6	57572	HP:0001263	Global developmental delay
OMIM:614219	DOCK6	57572	HP:0001562	Oligohydramnios
OMIM:614219	DOCK6	57572	HP:0000369	Low-set ears
OMIM:614219	DOCK6	57572	HP:0001792	Small nail
OMIM:162091	NF2	4771	HP:0010302	Spinal cord tumor
OMIM:162091	NF2	4771	HP:0100008	Schwannoma
OMIM:162091	NF2	4771	HP:0000951	Abnormality of the skin
OMIM:162091	NF2	4771	HP:0001428	Somatic mutation
OMIM:162091	NF2	4771	HP:0003829	Incomplete penetrance
OMIM:162091	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:162091	NF2	4771	HP:0000925	Abnormality of the vertebral column
OMIM:162091	NF2	4771	HP:0003828	Variable expressivity
OMIM:162091	NF2	4771	HP:0002858	Meningioma
OMIM:606482	DNM2	1785	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:606482	DNM2	1785	HP:0001265	Hyporeflexia
OMIM:606482	DNM2	1785	HP:0001425	Heterogeneous
OMIM:606482	DNM2	1785	HP:0003621	Juvenile onset
OMIM:606482	DNM2	1785	HP:0003693	Distal amyotrophy
OMIM:606482	DNM2	1785	HP:0001284	Areflexia
OMIM:606482	DNM2	1785	HP:0002460	Distal muscle weakness
OMIM:606482	DNM2	1785	HP:0000006	Autosomal dominant inheritance
OMIM:606482	DNM2	1785	HP:0040078	Axonal degeneration
OMIM:606482	DNM2	1785	HP:0002936	Distal sensory impairment
OMIM:606482	DNM2	1785	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:606482	DNM2	1785	HP:0003383	Onion bulb formation
OMIM:606482	DNM2	1785	HP:0001761	Pes cavus
OMIM:611528	JUP	3728	HP:0011663	Right ventricular cardiomyopathy
OMIM:611528	JUP	3728	HP:0000006	Autosomal dominant inheritance
OMIM:611528	JUP	3728	HP:0004308	Ventricular arrhythmia
OMIM:611528	JUP	3728	HP:0004756	Ventricular tachycardia
OMIM:611528	JUP	3728	HP:0001279	Syncope
OMIM:611528	JUP	3728	HP:0001425	Heterogeneous
OMIM:157170	SIX3	6496	HP:0001274	Agenesis of corpus callosum
OMIM:157170	SIX3	6496	HP:0001250	Seizures
OMIM:157170	SIX3	6496	HP:0001425	Heterogeneous
OMIM:157170	SIX3	6496	HP:0001249	Intellectual disability
OMIM:157170	SIX3	6496	HP:0010626	Anterior pituitary agenesis
OMIM:157170	SIX3	6496	HP:0000193	Bifid uvula
OMIM:157170	SIX3	6496	HP:0000272	Malar flattening
OMIM:157170	SIX3	6496	HP:0001263	Global developmental delay
OMIM:157170	SIX3	6496	HP:0001360	Holoprosencephaly
OMIM:157170	SIX3	6496	HP:0000835	Adrenal hypoplasia
OMIM:157170	SIX3	6496	HP:0000006	Autosomal dominant inheritance
OMIM:157170	SIX3	6496	HP:0000873	Diabetes insipidus
OMIM:157170	SIX3	6496	HP:0000601	Hypotelorism
OMIM:157170	SIX3	6496	HP:0011800	Midface retrusion
OMIM:157170	SIX3	6496	HP:0000176	Submucous cleft hard palate
OMIM:157170	SIX3	6496	HP:0003828	Variable expressivity
OMIM:157170	SIX3	6496	HP:0008501	Median cleft lip and palate
OMIM:157170	SIX3	6496	HP:0001321	Cerebellar hypoplasia
OMIM:157170	SIX3	6496	HP:0000568	Microphthalmia
OMIM:157170	SIX3	6496	HP:0002650	Scoliosis
OMIM:157170	SIX3	6496	HP:0006315	Single median maxillary incisor
OMIM:157170	SIX3	6496	HP:0000252	Microcephaly
OMIM:157170	SIX3	6496	HP:0001290	Generalized hypotonia
OMIM:157170	SIX3	6496	HP:0009914	Cyclopia
OMIM:157170	SIX3	6496	HP:0003829	Incomplete penetrance
OMIM:157170	SIX3	6496	HP:0002019	Constipation
OMIM:157170	SIX3	6496	HP:0003745	Sporadic
OMIM:157170	SIX3	6496	HP:0009927	Aplasia of the nose
OMIM:157170	SIX3	6496	HP:0005273	Absent nasal septal cartilage
OMIM:616063	SLC17A9	63910	HP:0200034	Papule
OMIM:616063	SLC17A9	63910	HP:0000006	Autosomal dominant inheritance
OMIM:616063	SLC17A9	63910	HP:0200044	Porokeratosis
ORPHA:2789	NOTCH3	4854	HP:0004493	Craniofacial hyperostosis
ORPHA:2789	NOTCH3	4854	HP:0005487	Prominent metopic ridge
ORPHA:2789	NOTCH3	4854	HP:0000405	Conductive hearing impairment
ORPHA:2789	NOTCH3	4854	HP:0000358	Posteriorly rotated ears
ORPHA:2789	NOTCH3	4854	HP:0002162	Low posterior hairline
ORPHA:2789	NOTCH3	4854	HP:0000678	Dental crowding
ORPHA:2789	NOTCH3	4854	HP:0000508	Ptosis
ORPHA:2789	NOTCH3	4854	HP:0000494	Downslanted palpebral fissures
ORPHA:2789	NOTCH3	4854	HP:0002645	Wormian bones
ORPHA:2789	NOTCH3	4854	HP:0002705	High, narrow palate
ORPHA:2789	NOTCH3	4854	HP:0000347	Micrognathia
ORPHA:2789	NOTCH3	4854	HP:0000369	Low-set ears
ORPHA:2789	NOTCH3	4854	HP:0000272	Malar flattening
ORPHA:2789	NOTCH3	4854	HP:0000767	Pectus excavatum
ORPHA:2789	NOTCH3	4854	HP:0005692	Joint hyperflexibility
ORPHA:2789	NOTCH3	4854	HP:0000275	Narrow face
ORPHA:2789	NOTCH3	4854	HP:0000319	Smooth philtrum
ORPHA:2789	NOTCH3	4854	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:2789	NOTCH3	4854	HP:0100775	Dural ectasia
ORPHA:2789	NOTCH3	4854	HP:0000268	Dolichocephaly
ORPHA:2789	NOTCH3	4854	HP:0000413	Atresia of the external auditory canal
ORPHA:2789	NOTCH3	4854	HP:0000023	Inguinal hernia
ORPHA:2789	NOTCH3	4854	HP:0000470	Short neck
ORPHA:2789	NOTCH3	4854	HP:0002435	Meningocele
ORPHA:2789	NOTCH3	4854	HP:0002650	Scoliosis
ORPHA:2789	NOTCH3	4854	HP:0001537	Umbilical hernia
ORPHA:2789	NOTCH3	4854	HP:0004452	Abnormality of the middle ear ossicles
OMIM:112310	FLNB	2317	HP:0000430	Underdeveloped nasal alae
OMIM:112310	FLNB	2317	HP:0000431	Wide nasal bridge
OMIM:112310	FLNB	2317	HP:0003510	Severe short stature
OMIM:112310	FLNB	2317	HP:0003974	Absent radius
OMIM:112310	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:112310	FLNB	2317	HP:0008824	Hypoplastic iliac body
OMIM:112310	FLNB	2317	HP:0002990	Fibular aplasia
OMIM:112310	FLNB	2317	HP:0005104	Hypoplastic nasal septum
OMIM:112310	FLNB	2317	HP:0003811	Neonatal death
ORPHA:280365	LMNA	4000	HP:0030685	Decreased adiponectin level
ORPHA:280365	LMNA	4000	HP:0003233	Decreased circulating high-density lipoprotein levels
ORPHA:280365	LMNA	4000	HP:0005328	Progeroid facial appearance
ORPHA:280365	LMNA	4000	HP:0000991	Xanthomatosis
ORPHA:280365	LMNA	4000	HP:0004416	Precocious atherosclerosis
ORPHA:280365	LMNA	4000	HP:0000287	Increased facial adipose tissue
ORPHA:280365	LMNA	4000	HP:0000468	Increased adipose tissue around the neck
ORPHA:280365	LMNA	4000	HP:0000147	Polycystic ovaries
ORPHA:280365	LMNA	4000	HP:0000819	Diabetes mellitus
ORPHA:280365	LMNA	4000	HP:0001597	Abnormality of the nail
ORPHA:280365	LMNA	4000	HP:0000347	Micrognathia
ORPHA:280365	LMNA	4000	HP:0008968	Muscle hypertrophy of the lower extremities
ORPHA:280365	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:280365	LMNA	4000	HP:0003717	Minimal subcutaneous fat
ORPHA:280365	LMNA	4000	HP:0006288	Advanced eruption of teeth
ORPHA:280365	LMNA	4000	HP:0100578	Lipoatrophy
ORPHA:280365	LMNA	4000	HP:0000956	Acanthosis nigricans
ORPHA:280365	LMNA	4000	HP:0000418	Narrow nasal ridge
ORPHA:280365	LMNA	4000	HP:0002216	Premature graying of hair
ORPHA:280365	LMNA	4000	HP:0002240	Hepatomegaly
ORPHA:280365	LMNA	4000	HP:0009771	Osteolytic defects of the phalanges of the hand
ORPHA:280365	LMNA	4000	HP:0000869	Secondary amenorrhea
ORPHA:280365	LMNA	4000	HP:0003292	Decreased serum leptin
ORPHA:280365	LMNA	4000	HP:0000963	Thin skin
ORPHA:280365	LMNA	4000	HP:0000311	Round face
ORPHA:280365	LMNA	4000	HP:0008993	Increased intraabdominal fat
ORPHA:280365	LMNA	4000	HP:0000855	Insulin resistance
ORPHA:280365	LMNA	4000	HP:0001870	Acroosteolysis of distal phalanges (feet)
ORPHA:280365	LMNA	4000	HP:0004943	Accelerated atherosclerosis
ORPHA:280365	LMNA	4000	HP:0040266	Proximal upper limb muscle hypertrophy
ORPHA:280365	LMNA	4000	HP:0001397	Hepatic steatosis
ORPHA:280365	LMNA	4000	HP:0002155	Hypertriglyceridemia
OMIM:607483	SLC19A3	80704	HP:0001289	Confusion
OMIM:607483	SLC19A3	80704	HP:0002015	Dysphagia
OMIM:607483	SLC19A3	80704	HP:0001259	Coma
OMIM:607483	SLC19A3	80704	HP:0002066	Gait ataxia
OMIM:607483	SLC19A3	80704	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:607483	SLC19A3	80704	HP:0002063	Rigidity
OMIM:607483	SLC19A3	80704	HP:0002134	Abnormality of the basal ganglia
OMIM:607483	SLC19A3	80704	HP:0000508	Ptosis
OMIM:607483	SLC19A3	80704	HP:0001250	Seizures
OMIM:607483	SLC19A3	80704	HP:0003487	Babinski sign
OMIM:607483	SLC19A3	80704	HP:0001945	Fever
OMIM:607483	SLC19A3	80704	HP:0002385	Paraparesis
OMIM:607483	SLC19A3	80704	HP:0012179	Craniofacial dystonia
OMIM:607483	SLC19A3	80704	HP:0001260	Dysarthria
OMIM:607483	SLC19A3	80704	HP:0000639	Nystagmus
OMIM:607483	SLC19A3	80704	HP:0003621	Juvenile onset
OMIM:607483	SLC19A3	80704	HP:0000007	Autosomal recessive inheritance
OMIM:607483	SLC19A3	80704	HP:0000737	Irritability
OMIM:607483	SLC19A3	80704	HP:0000544	External ophthalmoplegia
OMIM:607483	SLC19A3	80704	HP:0008936	Muscular hypotonia of the trunk
OMIM:607483	SLC19A3	80704	HP:0001298	Encephalopathy
OMIM:607483	SLC19A3	80704	HP:0002300	Mutism
OMIM:607483	SLC19A3	80704	HP:0002540	Inability to walk
OMIM:612359	SDHB	6390	HP:0012114	Endometrial carcinoma
OMIM:612359	SDHB	6390	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:612359	SDHB	6390	HP:0003002	Breast carcinoma
OMIM:612359	SDHB	6390	HP:0000131	Uterine leiomyoma
ORPHA:2701	SHOC2	8036	HP:0002750	Delayed skeletal maturation
ORPHA:2701	SHOC2	8036	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:2701	SHOC2	8036	HP:0000767	Pectus excavatum
ORPHA:2701	SHOC2	8036	HP:0000238	Hydrocephalus
ORPHA:2701	SHOC2	8036	HP:0004322	Short stature
ORPHA:2701	SHOC2	8036	HP:0000463	Anteverted nares
ORPHA:2701	SHOC2	8036	HP:0000286	Epicanthus
ORPHA:2701	SHOC2	8036	HP:0001642	Pulmonic stenosis
ORPHA:2701	SHOC2	8036	HP:0002162	Low posterior hairline
ORPHA:2701	SHOC2	8036	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2701	SHOC2	8036	HP:0002209	Sparse scalp hair
ORPHA:2701	SHOC2	8036	HP:0000465	Webbed neck
ORPHA:2701	SHOC2	8036	HP:0002002	Deep philtrum
ORPHA:2701	SHOC2	8036	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:2701	SHOC2	8036	HP:0000400	Macrotia
ORPHA:2701	SHOC2	8036	HP:0003196	Short nose
ORPHA:729	MPL	4352	HP:0002027	Abdominal pain
ORPHA:729	MPL	4352	HP:0002863	Myelodysplasia
ORPHA:729	MPL	4352	HP:0000225	Gingival bleeding
ORPHA:729	MPL	4352	HP:0002829	Arthralgia
ORPHA:729	MPL	4352	HP:0001681	Angina pectoris
ORPHA:729	MPL	4352	HP:0002240	Hepatomegaly
ORPHA:729	MPL	4352	HP:0002315	Headache
ORPHA:729	MPL	4352	HP:0011974	Myelofibrosis
ORPHA:729	MPL	4352	HP:0002093	Respiratory insufficiency
ORPHA:729	MPL	4352	HP:0001744	Splenomegaly
ORPHA:729	MPL	4352	HP:0001824	Weight loss
ORPHA:729	MPL	4352	HP:0000978	Bruising susceptibility
ORPHA:729	MPL	4352	HP:0000360	Tinnitus
ORPHA:729	MPL	4352	HP:0000421	Epistaxis
ORPHA:729	MPL	4352	HP:0012378	Fatigue
ORPHA:729	MPL	4352	HP:0002321	Vertigo
ORPHA:729	MPL	4352	HP:0002488	Acute leukemia
ORPHA:729	JAK2	3717	HP:0002027	Abdominal pain
ORPHA:729	JAK2	3717	HP:0002863	Myelodysplasia
ORPHA:729	JAK2	3717	HP:0000225	Gingival bleeding
ORPHA:729	JAK2	3717	HP:0002829	Arthralgia
ORPHA:729	JAK2	3717	HP:0001681	Angina pectoris
ORPHA:729	JAK2	3717	HP:0002240	Hepatomegaly
ORPHA:729	JAK2	3717	HP:0002315	Headache
ORPHA:729	JAK2	3717	HP:0011974	Myelofibrosis
ORPHA:729	JAK2	3717	HP:0002093	Respiratory insufficiency
ORPHA:729	JAK2	3717	HP:0001744	Splenomegaly
ORPHA:729	JAK2	3717	HP:0001824	Weight loss
ORPHA:729	JAK2	3717	HP:0000978	Bruising susceptibility
ORPHA:729	JAK2	3717	HP:0000360	Tinnitus
ORPHA:729	JAK2	3717	HP:0000421	Epistaxis
ORPHA:729	JAK2	3717	HP:0012378	Fatigue
ORPHA:729	JAK2	3717	HP:0002321	Vertigo
ORPHA:729	JAK2	3717	HP:0002488	Acute leukemia
ORPHA:729	TET2	54790	HP:0002027	Abdominal pain
ORPHA:729	TET2	54790	HP:0002863	Myelodysplasia
ORPHA:729	TET2	54790	HP:0000225	Gingival bleeding
ORPHA:729	TET2	54790	HP:0002829	Arthralgia
ORPHA:729	TET2	54790	HP:0001681	Angina pectoris
ORPHA:729	TET2	54790	HP:0002240	Hepatomegaly
ORPHA:729	TET2	54790	HP:0002315	Headache
ORPHA:729	TET2	54790	HP:0011974	Myelofibrosis
ORPHA:729	TET2	54790	HP:0002093	Respiratory insufficiency
ORPHA:729	TET2	54790	HP:0001744	Splenomegaly
ORPHA:729	TET2	54790	HP:0001824	Weight loss
ORPHA:729	TET2	54790	HP:0000978	Bruising susceptibility
ORPHA:729	TET2	54790	HP:0000360	Tinnitus
ORPHA:729	TET2	54790	HP:0000421	Epistaxis
ORPHA:729	TET2	54790	HP:0012378	Fatigue
ORPHA:729	TET2	54790	HP:0002321	Vertigo
ORPHA:729	TET2	54790	HP:0002488	Acute leukemia
OMIM:160900	DMPK	1760	HP:0000518	Cataract
OMIM:160900	DMPK	1760	HP:0001081	Cholelithiasis
OMIM:160900	DMPK	1760	HP:0001561	Polyhydramnios
OMIM:160900	DMPK	1760	HP:0000135	Hypogonadism
OMIM:160900	DMPK	1760	HP:0002098	Respiratory distress
OMIM:160900	DMPK	1760	HP:0001558	Decreased fetal movement
OMIM:160900	DMPK	1760	HP:0010864	Intellectual disability, severe
OMIM:160900	DMPK	1760	HP:0002059	Cerebral atrophy
OMIM:160900	DMPK	1760	HP:0002292	Frontal balding
OMIM:160900	DMPK	1760	HP:0001290	Generalized hypotonia
OMIM:160900	DMPK	1760	HP:0006887	Intellectual disability, progressive
OMIM:160900	DMPK	1760	HP:0011705	First degree atrioventricular block
OMIM:160900	DMPK	1760	HP:0002015	Dysphagia
OMIM:160900	DMPK	1760	HP:0000006	Autosomal dominant inheritance
OMIM:160900	DMPK	1760	HP:0008770	Obsessive-compulsive trait
OMIM:160900	DMPK	1760	HP:0002486	Myotonia
OMIM:160900	DMPK	1760	HP:0000029	Testicular atrophy
OMIM:160900	DMPK	1760	HP:0008872	Feeding difficulties in infancy
OMIM:160900	DMPK	1760	HP:0001324	Muscle weakness
OMIM:160900	DMPK	1760	HP:0001349	Facial diplegia
OMIM:160900	DMPK	1760	HP:0002189	Excessive daytime sleepiness
ORPHA:71529	MC4R	4160	HP:0008915	Childhood-onset truncal obesity
ORPHA:71529	MC4R	4160	HP:0009126	Increased adipose tissue
ORPHA:71529	MC4R	4160	HP:0002591	Polyphagia
ORPHA:93284	TRAPPC2	6399	HP:0002650	Scoliosis
ORPHA:93284	TRAPPC2	6399	HP:0000470	Short neck
ORPHA:93284	TRAPPC2	6399	HP:0003498	Disproportionate short stature
ORPHA:93284	TRAPPC2	6399	HP:0002866	Hypoplastic iliac wing
ORPHA:93284	TRAPPC2	6399	HP:0008843	Hip osteoarthritis
ORPHA:93284	TRAPPC2	6399	HP:0002942	Thoracic kyphosis
ORPHA:93284	TRAPPC2	6399	HP:0003311	Hypoplasia of the odontoid process
ORPHA:93284	TRAPPC2	6399	HP:0002812	Coxa vara
ORPHA:93284	TRAPPC2	6399	HP:0010306	Short thorax
ORPHA:93284	TRAPPC2	6399	HP:0002938	Lumbar hyperlordosis
ORPHA:93284	TRAPPC2	6399	HP:0009824	Upper limb undergrowth
ORPHA:93284	TRAPPC2	6399	HP:0002655	Spondyloepiphyseal dysplasia
ORPHA:93284	TRAPPC2	6399	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93284	TRAPPC2	6399	HP:0002829	Arthralgia
ORPHA:93284	TRAPPC2	6399	HP:0001552	Barrel-shaped chest
ORPHA:93284	TRAPPC2	6399	HP:0000926	Platyspondyly
OMIM:614049	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:614049	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:142946	TGIF1	7050	HP:0005273	Absent nasal septal cartilage
OMIM:142946	TGIF1	7050	HP:0000161	Median cleft lip
OMIM:142946	TGIF1	7050	HP:0000601	Hypotelorism
OMIM:142946	TGIF1	7050	HP:0005280	Depressed nasal bridge
OMIM:142946	TGIF1	7050	HP:0002507	Semilobar holoprosencephaly
OMIM:142946	TGIF1	7050	HP:0000006	Autosomal dominant inheritance
OMIM:142946	TGIF1	7050	HP:0000437	Depressed nasal tip
OMIM:142946	TGIF1	7050	HP:0000508	Ptosis
OMIM:142946	TGIF1	7050	HP:0008501	Median cleft lip and palate
OMIM:225750	TREX1	11277	HP:0001945	Fever
OMIM:225750	TREX1	11277	HP:0009710	Chilblain lesions
OMIM:225750	TREX1	11277	HP:0002059	Cerebral atrophy
OMIM:225750	TREX1	11277	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	TREX1	11277	HP:0002352	Leukoencephalopathy
OMIM:225750	TREX1	11277	HP:0001332	Dystonia
OMIM:225750	TREX1	11277	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	TREX1	11277	HP:0001250	Seizures
OMIM:225750	TREX1	11277	HP:0001433	Hepatosplenomegaly
OMIM:225750	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:225750	TREX1	11277	HP:0002421	Poor head control
OMIM:225750	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:225750	TREX1	11277	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	TREX1	11277	HP:0000967	Petechiae
OMIM:225750	TREX1	11277	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	TREX1	11277	HP:0008872	Feeding difficulties in infancy
OMIM:225750	TREX1	11277	HP:0000639	Nystagmus
OMIM:225750	TREX1	11277	HP:0001063	Acrocyanosis
OMIM:225750	TREX1	11277	HP:0002187	Intellectual disability, profound
OMIM:225750	TREX1	11277	HP:0007321	Deep white matter hypodensities
OMIM:225750	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:225750	TREX1	11277	HP:0000253	Progressive microcephaly
OMIM:225750	TREX1	11277	HP:0009709	Increased CSF interferon alpha
OMIM:225750	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:225750	TREX1	11277	HP:0001263	Global developmental delay
OMIM:225750	TREX1	11277	HP:0000486	Strabismus
OMIM:225750	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:225750	TREX1	11277	HP:0002448	Progressive encephalopathy
OMIM:225750	TREX1	11277	HP:0004394	Multiple gastric polyps
OMIM:225750	TREX1	11277	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	TREX1	11277	HP:0001257	Spasticity
OMIM:212780	LRP4	4038	HP:0000089	Renal hypoplasia
OMIM:212780	LRP4	4038	HP:0011220	Prominent forehead
OMIM:212780	LRP4	4038	HP:0000494	Downslanted palpebral fissures
OMIM:212780	LRP4	4038	HP:0002984	Hypoplasia of the radius
OMIM:212780	LRP4	4038	HP:0000104	Renal agenesis
OMIM:212780	LRP4	4038	HP:0000347	Micrognathia
OMIM:212780	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:212780	LRP4	4038	HP:0000316	Hypertelorism
OMIM:212780	LRP4	4038	HP:0001159	Syndactyly
OMIM:212780	LRP4	4038	HP:0003022	Hypoplasia of the ulna
OMIM:606703	ADCY5	111	HP:0001332	Dystonia
OMIM:606703	ADCY5	111	HP:0001260	Dysarthria
OMIM:606703	ADCY5	111	HP:0002509	Limb hypertonia
OMIM:606703	ADCY5	111	HP:0003621	Juvenile onset
OMIM:606703	ADCY5	111	HP:0000739	Anxiety
OMIM:606703	ADCY5	111	HP:0002072	Chorea
OMIM:606703	ADCY5	111	HP:0000006	Autosomal dominant inheritance
OMIM:606703	ADCY5	111	HP:0000317	Facial myokymia
OMIM:606703	ADCY5	111	HP:0100660	Dyskinesia
OMIM:231950	GGT1	2678	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:231950	GGT1	2678	HP:0000007	Autosomal recessive inheritance
OMIM:231950	GGT1	2678	HP:0001249	Intellectual disability
OMIM:610992	PSAT1	29968	HP:0001250	Seizures
OMIM:610992	PSAT1	29968	HP:0001276	Hypertonia
OMIM:610992	PSAT1	29968	HP:0003593	Infantile onset
OMIM:610992	PSAT1	29968	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610992	PSAT1	29968	HP:0012279	Hyposerinemia
OMIM:610992	PSAT1	29968	HP:0008872	Feeding difficulties in infancy
OMIM:610992	PSAT1	29968	HP:0005484	Postnatal microcephaly
OMIM:610992	PSAT1	29968	HP:0001263	Global developmental delay
OMIM:610992	PSAT1	29968	HP:0012277	Hypoglycinemia
OMIM:610992	PSAT1	29968	HP:0000007	Autosomal recessive inheritance
OMIM:607364	CLCNKB	1188	HP:0000128	Renal potassium wasting
OMIM:607364	CLCNKB	1188	HP:0008046	Abnormality of the retinal vasculature
OMIM:607364	CLCNKB	1188	HP:0000610	Abnormality of the choroid
OMIM:607364	CLCNKB	1188	HP:0000848	Increased circulating renin level
OMIM:607364	CLCNKB	1188	HP:0003324	Generalized muscle weakness
OMIM:607364	CLCNKB	1188	HP:0002615	Hypotension
OMIM:607364	CLCNKB	1188	HP:0000007	Autosomal recessive inheritance
OMIM:607364	CLCNKB	1188	HP:0003081	Increased urinary potassium
OMIM:607364	CLCNKB	1188	HP:0002914	Hyperchloriduria
OMIM:607364	CLCNKB	1188	HP:0001944	Dehydration
OMIM:607364	CLCNKB	1188	HP:0000841	Hyperactive renin-angiotensin system
OMIM:607364	CLCNKB	1188	HP:0002900	Hypokalemia
OMIM:607364	CLCNKB	1188	HP:0001960	Hypokalemic metabolic alkalosis
OMIM:607364	CLCNKB	1188	HP:0000103	Polyuria
OMIM:607364	CLCNKB	1188	HP:0000127	Renal salt wasting
OMIM:607364	CLCNKB	1188	HP:0000859	Hyperaldosteronism
OMIM:607364	CLCNKB	1188	HP:0005579	Impaired reabsorption of chloride
OMIM:607364	CLCNKB	1188	HP:0000591	Abnormality of the sclera
OMIM:615113	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:615113	ALDH1A3	220	HP:0000609	Optic nerve hypoplasia
OMIM:615113	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:614231	IER3IP1	51124	HP:0010804	Tented upper lip vermilion
OMIM:614231	IER3IP1	51124	HP:0001319	Neonatal hypotonia
OMIM:614231	IER3IP1	51124	HP:0000341	Narrow forehead
OMIM:614231	IER3IP1	51124	HP:0011968	Feeding difficulties
OMIM:614231	IER3IP1	51124	HP:0000508	Ptosis
OMIM:614231	IER3IP1	51124	HP:0002123	Generalized myoclonic seizures
OMIM:614231	IER3IP1	51124	HP:0003577	Congenital onset
OMIM:614231	IER3IP1	51124	HP:0000218	High palate
OMIM:614231	IER3IP1	51124	HP:0000252	Microcephaly
OMIM:614231	IER3IP1	51124	HP:0012448	Delayed myelination
OMIM:614231	IER3IP1	51124	HP:0000007	Autosomal recessive inheritance
OMIM:614231	IER3IP1	51124	HP:0000463	Anteverted nares
OMIM:614231	IER3IP1	51124	HP:0000293	Full cheeks
OMIM:614231	IER3IP1	51124	HP:0008936	Muscular hypotonia of the trunk
OMIM:614231	IER3IP1	51124	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614231	IER3IP1	51124	HP:0000819	Diabetes mellitus
OMIM:614231	IER3IP1	51124	HP:0001348	Brisk reflexes
OMIM:614231	IER3IP1	51124	HP:0002205	Recurrent respiratory infections
OMIM:614231	IER3IP1	51124	HP:0001263	Global developmental delay
OMIM:614231	IER3IP1	51124	HP:0002521	Hypsarrhythmia
OMIM:614231	IER3IP1	51124	HP:0000952	Jaundice
OMIM:614231	IER3IP1	51124	HP:0002187	Intellectual disability, profound
OMIM:614231	IER3IP1	51124	HP:0009879	Cortical gyral simplification
ORPHA:2044	SRCAP	10847	HP:0001263	Global developmental delay
ORPHA:2044	SRCAP	10847	HP:0001387	Joint stiffness
ORPHA:2044	SRCAP	10847	HP:0006585	Congenital pseudoarthrosis of the clavicle
ORPHA:2044	SRCAP	10847	HP:0000233	Thin vermilion border
ORPHA:2044	SRCAP	10847	HP:0002024	Malabsorption
ORPHA:2044	SRCAP	10847	HP:0001511	Intrauterine growth retardation
ORPHA:2044	SRCAP	10847	HP:0001611	Nasal speech
ORPHA:2044	SRCAP	10847	HP:0002750	Delayed skeletal maturation
ORPHA:2044	SRCAP	10847	HP:0000325	Triangular face
ORPHA:2044	SRCAP	10847	HP:0000403	Recurrent otitis media
ORPHA:2044	SRCAP	10847	HP:0000448	Prominent nose
ORPHA:2044	SRCAP	10847	HP:0000894	Short clavicles
ORPHA:2044	SRCAP	10847	HP:0008872	Feeding difficulties in infancy
ORPHA:2044	SRCAP	10847	HP:0000431	Wide nasal bridge
ORPHA:2044	SRCAP	10847	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2044	SRCAP	10847	HP:0000358	Posteriorly rotated ears
ORPHA:2044	SRCAP	10847	HP:0010761	Broad columella
ORPHA:2044	SRCAP	10847	HP:0000154	Wide mouth
ORPHA:2044	SRCAP	10847	HP:0001249	Intellectual disability
ORPHA:2044	SRCAP	10847	HP:0011304	Broad thumb
ORPHA:2044	SRCAP	10847	HP:0005692	Joint hyperflexibility
ORPHA:2044	SRCAP	10847	HP:0002019	Constipation
ORPHA:2044	SRCAP	10847	HP:0002230	Generalized hirsutism
ORPHA:2044	SRCAP	10847	HP:0004322	Short stature
ORPHA:2044	SRCAP	10847	HP:0002474	Expressive language delay
ORPHA:2044	SRCAP	10847	HP:0003037	Enlarged joints
ORPHA:2044	SRCAP	10847	HP:0002167	Neurological speech impairment
ORPHA:2044	SRCAP	10847	HP:0000470	Short neck
ORPHA:2044	SRCAP	10847	HP:0000322	Short philtrum
ORPHA:2044	SRCAP	10847	HP:0001620	High pitched voice
ORPHA:2044	SRCAP	10847	HP:0000430	Underdeveloped nasal alae
ORPHA:2044	SRCAP	10847	HP:0001156	Brachydactyly
ORPHA:2044	SRCAP	10847	HP:0000490	Deeply set eye
ORPHA:2044	SRCAP	10847	HP:0000527	Long eyelashes
ORPHA:2044	SRCAP	10847	HP:0100736	Abnormality of the soft palate
ORPHA:2044	SRCAP	10847	HP:0000414	Bulbous nose
ORPHA:2044	SRCAP	10847	HP:0100490	Camptodactyly of finger
ORPHA:138	CHD7	55636	HP:0000359	Abnormality of the inner ear
ORPHA:138	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:138	CHD7	55636	HP:0010628	Facial palsy
ORPHA:138	CHD7	55636	HP:0000486	Strabismus
ORPHA:138	CHD7	55636	HP:0000830	Anterior hypopituitarism
ORPHA:138	CHD7	55636	HP:0000066	Labial hypoplasia
ORPHA:138	CHD7	55636	HP:0000684	Delayed eruption of teeth
ORPHA:138	CHD7	55636	HP:0008572	External ear malformation
ORPHA:138	CHD7	55636	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:138	CHD7	55636	HP:0100736	Abnormality of the soft palate
ORPHA:138	CHD7	55636	HP:0000722	Obsessive-compulsive behavior
ORPHA:138	CHD7	55636	HP:0000028	Cryptorchidism
ORPHA:138	CHD7	55636	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:138	CHD7	55636	HP:0000612	Iris coloboma
ORPHA:138	CHD7	55636	HP:0001636	Tetralogy of Fallot
ORPHA:138	CHD7	55636	HP:0005280	Depressed nasal bridge
ORPHA:138	CHD7	55636	HP:0001561	Polyhydramnios
ORPHA:138	CHD7	55636	HP:0000648	Optic atrophy
ORPHA:138	CHD7	55636	HP:0001671	Abnormality of the cardiac septa
ORPHA:138	CHD7	55636	HP:0000365	Hearing impairment
ORPHA:138	CHD7	55636	HP:0010751	Dimple chin
ORPHA:138	CHD7	55636	HP:0000008	Abnormality of female internal genitalia
ORPHA:138	CHD7	55636	HP:0000567	Chorioretinal coloboma
ORPHA:138	CHD7	55636	HP:0001643	Patent ductus arteriosus
ORPHA:138	CHD7	55636	HP:0001646	Abnormality of the aortic valve
ORPHA:138	CHD7	55636	HP:0000717	Autism
ORPHA:138	CHD7	55636	HP:0002020	Gastroesophageal reflux
ORPHA:138	CHD7	55636	HP:0000453	Choanal atresia
ORPHA:138	CHD7	55636	HP:0000275	Narrow face
ORPHA:138	CHD7	55636	HP:0000528	Anophthalmia
ORPHA:138	CHD7	55636	HP:0008736	Hypoplasia of penis
ORPHA:138	CHD7	55636	HP:0000639	Nystagmus
ORPHA:138	CHD7	55636	HP:0001249	Intellectual disability
ORPHA:138	CHD7	55636	HP:0000508	Ptosis
ORPHA:138	CHD7	55636	HP:0000048	Bifid scrotum
ORPHA:138	CHD7	55636	HP:0000324	Facial asymmetry
ORPHA:138	CHD7	55636	HP:0000568	Microphthalmia
ORPHA:138	CHD7	55636	HP:0005113	Dilatation of the aortic arch
ORPHA:138	CHD7	55636	HP:0011611	Interrupted aortic arch
ORPHA:138	CHD7	55636	HP:0000458	Anosmia
ORPHA:138	CHD7	55636	HP:0000175	Cleft palate
ORPHA:138	CHD7	55636	HP:0000396	Overfolded helix
ORPHA:138	CHD7	55636	HP:0000204	Cleft upper lip
ORPHA:138	CHD7	55636	HP:0000160	Narrow mouth
ORPHA:138	CHD7	55636	HP:0001252	Muscular hypotonia
ORPHA:138	CHD7	55636	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:138	SEMA3E	9723	HP:0000359	Abnormality of the inner ear
ORPHA:138	SEMA3E	9723	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:138	SEMA3E	9723	HP:0010628	Facial palsy
ORPHA:138	SEMA3E	9723	HP:0000486	Strabismus
ORPHA:138	SEMA3E	9723	HP:0000830	Anterior hypopituitarism
ORPHA:138	SEMA3E	9723	HP:0000066	Labial hypoplasia
ORPHA:138	SEMA3E	9723	HP:0000684	Delayed eruption of teeth
ORPHA:138	SEMA3E	9723	HP:0008572	External ear malformation
ORPHA:138	SEMA3E	9723	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHA:138	SEMA3E	9723	HP:0100736	Abnormality of the soft palate
ORPHA:138	SEMA3E	9723	HP:0000722	Obsessive-compulsive behavior
ORPHA:138	SEMA3E	9723	HP:0000028	Cryptorchidism
ORPHA:138	SEMA3E	9723	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:138	SEMA3E	9723	HP:0000612	Iris coloboma
ORPHA:138	SEMA3E	9723	HP:0001636	Tetralogy of Fallot
ORPHA:138	SEMA3E	9723	HP:0005280	Depressed nasal bridge
ORPHA:138	SEMA3E	9723	HP:0001561	Polyhydramnios
ORPHA:138	SEMA3E	9723	HP:0000648	Optic atrophy
ORPHA:138	SEMA3E	9723	HP:0001671	Abnormality of the cardiac septa
ORPHA:138	SEMA3E	9723	HP:0000365	Hearing impairment
ORPHA:138	SEMA3E	9723	HP:0010751	Dimple chin
ORPHA:138	SEMA3E	9723	HP:0000008	Abnormality of female internal genitalia
ORPHA:138	SEMA3E	9723	HP:0000567	Chorioretinal coloboma
ORPHA:138	SEMA3E	9723	HP:0001643	Patent ductus arteriosus
ORPHA:138	SEMA3E	9723	HP:0001646	Abnormality of the aortic valve
ORPHA:138	SEMA3E	9723	HP:0000717	Autism
ORPHA:138	SEMA3E	9723	HP:0002020	Gastroesophageal reflux
ORPHA:138	SEMA3E	9723	HP:0000453	Choanal atresia
ORPHA:138	SEMA3E	9723	HP:0000275	Narrow face
ORPHA:138	SEMA3E	9723	HP:0000528	Anophthalmia
ORPHA:138	SEMA3E	9723	HP:0008736	Hypoplasia of penis
ORPHA:138	SEMA3E	9723	HP:0000639	Nystagmus
ORPHA:138	SEMA3E	9723	HP:0001249	Intellectual disability
ORPHA:138	SEMA3E	9723	HP:0000508	Ptosis
ORPHA:138	SEMA3E	9723	HP:0000048	Bifid scrotum
ORPHA:138	SEMA3E	9723	HP:0000324	Facial asymmetry
ORPHA:138	SEMA3E	9723	HP:0000568	Microphthalmia
ORPHA:138	SEMA3E	9723	HP:0005113	Dilatation of the aortic arch
ORPHA:138	SEMA3E	9723	HP:0011611	Interrupted aortic arch
ORPHA:138	SEMA3E	9723	HP:0000458	Anosmia
ORPHA:138	SEMA3E	9723	HP:0000175	Cleft palate
ORPHA:138	SEMA3E	9723	HP:0000396	Overfolded helix
ORPHA:138	SEMA3E	9723	HP:0000204	Cleft upper lip
ORPHA:138	SEMA3E	9723	HP:0000160	Narrow mouth
ORPHA:138	SEMA3E	9723	HP:0001252	Muscular hypotonia
ORPHA:138	SEMA3E	9723	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:524	CHEK2	11200	HP:0008069	Neoplasm of the skin
ORPHA:524	CHEK2	11200	HP:0002669	Osteosarcoma
ORPHA:524	CHEK2	11200	HP:0004375	Neoplasm of the nervous system
ORPHA:524	CHEK2	11200	HP:0100273	Neoplasm of the colon
ORPHA:524	CHEK2	11200	HP:0100641	Neoplasm of the adrenal cortex
ORPHA:524	CHEK2	11200	HP:0002448	Progressive encephalopathy
ORPHA:524	CHEK2	11200	HP:0002894	Neoplasm of the pancreas
ORPHA:524	CHEK2	11200	HP:0003002	Breast carcinoma
ORPHA:524	CHEK2	11200	HP:0002665	Lymphoma
ORPHA:524	MDM2	4193	HP:0008069	Neoplasm of the skin
ORPHA:524	MDM2	4193	HP:0002669	Osteosarcoma
ORPHA:524	MDM2	4193	HP:0004375	Neoplasm of the nervous system
ORPHA:524	MDM2	4193	HP:0100273	Neoplasm of the colon
ORPHA:524	MDM2	4193	HP:0100641	Neoplasm of the adrenal cortex
ORPHA:524	MDM2	4193	HP:0002448	Progressive encephalopathy
ORPHA:524	MDM2	4193	HP:0002894	Neoplasm of the pancreas
ORPHA:524	MDM2	4193	HP:0003002	Breast carcinoma
ORPHA:524	MDM2	4193	HP:0002665	Lymphoma
ORPHA:524	TP53	7157	HP:0008069	Neoplasm of the skin
ORPHA:524	TP53	7157	HP:0002669	Osteosarcoma
ORPHA:524	TP53	7157	HP:0004375	Neoplasm of the nervous system
ORPHA:524	TP53	7157	HP:0100273	Neoplasm of the colon
ORPHA:524	TP53	7157	HP:0100641	Neoplasm of the adrenal cortex
ORPHA:524	TP53	7157	HP:0002448	Progressive encephalopathy
ORPHA:524	TP53	7157	HP:0002894	Neoplasm of the pancreas
ORPHA:524	TP53	7157	HP:0003002	Breast carcinoma
ORPHA:524	TP53	7157	HP:0002665	Lymphoma
ORPHA:69087	KRT14	3861	HP:0007588	Reticular hyperpigmentation
ORPHA:69087	KRT14	3861	HP:0000968	Ectodermal dysplasia
ORPHA:69087	KRT14	3861	HP:0000682	Abnormality of dental enamel
ORPHA:69087	KRT14	3861	HP:0007435	Diffuse palmoplantar keratoderma
ORPHA:69087	KRT14	3861	HP:0001810	Dystrophic toenail
ORPHA:69087	KRT14	3861	HP:0007455	Adermatoglyphia
ORPHA:69087	KRT14	3861	HP:0008391	Dystrophic fingernails
OMIM:611548	NOBOX	135935	HP:0000869	Secondary amenorrhea
OMIM:611548	NOBOX	135935	HP:0000006	Autosomal dominant inheritance
OMIM:611548	NOBOX	135935	HP:0008209	Premature ovarian insufficiency
OMIM:204200	CLN3	1201	HP:0002505	Progressive inability to walk
OMIM:204200	CLN3	1201	HP:0001317	Abnormality of the cerebellum
OMIM:204200	CLN3	1201	HP:0000726	Dementia
OMIM:204200	CLN3	1201	HP:0001250	Seizures
OMIM:204200	CLN3	1201	HP:0000550	Undetectable electroretinogram
OMIM:204200	CLN3	1201	HP:0000529	Progressive visual loss
OMIM:204200	CLN3	1201	HP:0001260	Dysarthria
OMIM:204200	CLN3	1201	HP:0001922	Vacuolated lymphocytes
OMIM:204200	CLN3	1201	HP:0002074	Increased neuronal autofluorescent lipopigment
OMIM:204200	CLN3	1201	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
OMIM:204200	CLN3	1201	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
OMIM:204200	CLN3	1201	HP:0000510	Rod-cone dystrophy
OMIM:204200	CLN3	1201	HP:0001300	Parkinsonism
OMIM:204200	CLN3	1201	HP:0003463	Increased extraneuronal autofluorescent lipopigment
OMIM:204200	CLN3	1201	HP:0000709	Psychosis
OMIM:204200	CLN3	1201	HP:0002361	Psychomotor deterioration
OMIM:204200	CLN3	1201	HP:0005157	Concentric hypertrophic cardiomyopathy
OMIM:204200	CLN3	1201	HP:0000007	Autosomal recessive inheritance
OMIM:204200	CLN3	1201	HP:0001336	Myoclonus
OMIM:204200	CLN3	1201	HP:0000648	Optic atrophy
OMIM:204200	CLN3	1201	HP:0002059	Cerebral atrophy
OMIM:204200	CLN3	1201	HP:0000608	Macular degeneration
OMIM:204200	CLN3	1201	HP:0000618	Blindness
OMIM:204200	CLN3	1201	HP:0000739	Anxiety
OMIM:204200	CLN3	1201	HP:0001249	Intellectual disability
OMIM:612938	FTO	79068	HP:0001250	Seizures
OMIM:612938	FTO	79068	HP:0002678	Skull asymmetry
OMIM:612938	FTO	79068	HP:0001629	Ventricular septal defect
OMIM:612938	FTO	79068	HP:0000028	Cryptorchidism
OMIM:612938	FTO	79068	HP:0001643	Patent ductus arteriosus
OMIM:612938	FTO	79068	HP:0000280	Coarse facial features
OMIM:612938	FTO	79068	HP:0001513	Obesity
OMIM:612938	FTO	79068	HP:0000158	Macroglossia
OMIM:612938	FTO	79068	HP:0000407	Sensorineural hearing impairment
OMIM:612938	FTO	79068	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612938	FTO	79068	HP:0000965	Cutis marmorata
OMIM:612938	FTO	79068	HP:0001508	Failure to thrive
OMIM:612938	FTO	79068	HP:0001156	Brachydactyly
OMIM:612938	FTO	79068	HP:0010808	Protruding tongue
OMIM:612938	FTO	79068	HP:0001792	Small nail
OMIM:612938	FTO	79068	HP:0000238	Hydrocephalus
OMIM:612938	FTO	79068	HP:0000193	Bifid uvula
OMIM:612938	FTO	79068	HP:0000278	Retrognathia
OMIM:612938	FTO	79068	HP:0001339	Lissencephaly
OMIM:612938	FTO	79068	HP:0001263	Global developmental delay
OMIM:612938	FTO	79068	HP:0001511	Intrauterine growth retardation
OMIM:612938	FTO	79068	HP:0000007	Autosomal recessive inheritance
OMIM:612938	FTO	79068	HP:0001276	Hypertonia
OMIM:612938	FTO	79068	HP:0000463	Anteverted nares
OMIM:612938	FTO	79068	HP:0000252	Microcephaly
OMIM:612938	FTO	79068	HP:0001537	Umbilical hernia
OMIM:612938	FTO	79068	HP:0000470	Short neck
OMIM:612938	FTO	79068	HP:0000175	Cleft palate
OMIM:612938	FTO	79068	HP:0001305	Dandy-Walker malformation
ORPHA:892	VHL	7428	HP:0000407	Sensorineural hearing impairment
ORPHA:892	VHL	7428	HP:0000505	Visual impairment
ORPHA:892	VHL	7428	HP:0002167	Neurological speech impairment
ORPHA:892	VHL	7428	HP:0000238	Hydrocephalus
ORPHA:892	VHL	7428	HP:0002017	Nausea and vomiting
ORPHA:892	VHL	7428	HP:0001737	Pancreatic cysts
ORPHA:892	VHL	7428	HP:0009711	Retinal capillary hemangioma
ORPHA:892	VHL	7428	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:892	VHL	7428	HP:0001288	Gait disturbance
ORPHA:892	VHL	7428	HP:0002076	Migraine
ORPHA:892	VHL	7428	HP:0100585	Telangiectasia of the skin
ORPHA:892	VHL	7428	HP:0000113	Polycystic kidney dysplasia
ORPHA:892	VHL	7428	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:892	VHL	7428	HP:0004374	Hemiplegia/hemiparesis
ORPHA:892	VHL	7428	HP:0100761	Visceral angiomatosis
ORPHA:892	VHL	7428	HP:0000639	Nystagmus
ORPHA:892	VHL	7428	HP:0000763	Sensory neuropathy
ORPHA:892	VHL	7428	HP:0000003	Multicystic kidney dysplasia
ORPHA:892	VHL	7428	HP:0100026	Arteriovenous malformation
ORPHA:892	VHL	7428	HP:0005306	Capillary hemangiomas
ORPHA:892	VHL	7428	HP:0009715	Papillary cystadenoma of the epididymis
ORPHA:892	VHL	7428	HP:0001251	Ataxia
ORPHA:892	VHL	7428	HP:0005584	Renal cell carcinoma
ORPHA:892	VHL	7428	HP:0008046	Abnormality of the retinal vasculature
OMIM:309350	FLNA	2316	HP:0000472	Long neck
OMIM:309350	FLNA	2316	HP:0001270	Motor delay
OMIM:309350	FLNA	2316	HP:0000692	Misalignment of teeth
OMIM:309350	FLNA	2316	HP:0001288	Gait disturbance
OMIM:309350	FLNA	2316	HP:0003826	Stillbirth
OMIM:309350	FLNA	2316	HP:0000175	Cleft palate
OMIM:309350	FLNA	2316	HP:0000403	Recurrent otitis media
OMIM:309350	FLNA	2316	HP:0000347	Micrognathia
OMIM:309350	FLNA	2316	HP:0002751	Kyphoscoliosis
OMIM:309350	FLNA	2316	HP:0000270	Delayed cranial suture closure
OMIM:309350	FLNA	2316	HP:0001539	Omphalocele
OMIM:309350	FLNA	2316	HP:0005446	Obtuse angle of mandible
OMIM:309350	FLNA	2316	HP:0005792	Short humerus
OMIM:309350	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:309350	FLNA	2316	HP:0000071	Ureteral stenosis
OMIM:309350	FLNA	2316	HP:0001508	Failure to thrive
OMIM:309350	FLNA	2316	HP:0002092	Pulmonary arterial hypertension
OMIM:309350	FLNA	2316	HP:0002673	Coxa valga
OMIM:309350	FLNA	2316	HP:0009882	Short distal phalanx of finger
OMIM:309350	FLNA	2316	HP:0001763	Pes planus
OMIM:309350	FLNA	2316	HP:0000684	Delayed eruption of teeth
OMIM:309350	FLNA	2316	HP:0000400	Macrotia
OMIM:309350	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:309350	FLNA	2316	HP:0000882	Hypoplastic scapulae
OMIM:309350	FLNA	2316	HP:0000316	Hypertelorism
OMIM:309350	FLNA	2316	HP:0000486	Strabismus
OMIM:309350	FLNA	2316	HP:0001609	Hoarse voice
OMIM:309350	FLNA	2316	HP:0002827	Hip dislocation
OMIM:309350	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:309350	FLNA	2316	HP:0000274	Small face
OMIM:309350	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:309350	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:309350	FLNA	2316	HP:0001762	Talipes equinovarus
OMIM:309350	FLNA	2316	HP:0002208	Coarse hair
OMIM:309350	FLNA	2316	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:309350	FLNA	2316	HP:0001377	Limited elbow extension
OMIM:309350	FLNA	2316	HP:0002205	Recurrent respiratory infections
OMIM:309350	FLNA	2316	HP:0011335	Frontal hirsutism
OMIM:309350	FLNA	2316	HP:0004611	Anterior concavity of thoracic vertebrae
OMIM:309350	FLNA	2316	HP:0000774	Narrow chest
OMIM:309350	FLNA	2316	HP:0000520	Proptosis
OMIM:309350	FLNA	2316	HP:0003015	Flared metaphysis
OMIM:309350	FLNA	2316	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:309350	FLNA	2316	HP:0000894	Short clavicles
OMIM:309350	FLNA	2316	HP:0001704	Tricuspid valve prolapse
OMIM:309350	FLNA	2316	HP:0002982	Tibial bowing
OMIM:309350	FLNA	2316	HP:0002857	Genu valgum
ORPHA:93409	HOXD13	3239	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:93409	HOXD13	3239	HP:0001822	Hallux valgus
ORPHA:93409	HOXD13	3239	HP:0004220	Short middle phalanx of the 5th finger
ORPHA:93409	HOXD13	3239	HP:0009577	Short middle phalanx of the 2nd finger
ORPHA:93409	HOXD13	3239	HP:0001770	Toe syndactyly
ORPHA:93409	HOXD13	3239	HP:0010047	Short 5th metacarpal
ORPHA:93409	HOXD13	3239	HP:0004704	Short fifth metatarsal
ORPHA:93316	COL2A1	1280	HP:0002751	Kyphoscoliosis
ORPHA:93316	COL2A1	1280	HP:0002857	Genu valgum
ORPHA:93316	COL2A1	1280	HP:0000926	Platyspondyly
ORPHA:93316	COL2A1	1280	HP:0003026	Short long bone
ORPHA:93316	COL2A1	1280	HP:0004322	Short stature
ORPHA:93316	COL2A1	1280	HP:0000545	Myopia
ORPHA:93316	COL2A1	1280	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:93316	COL2A1	1280	HP:0001373	Joint dislocation
ORPHA:93316	COL2A1	1280	HP:0002983	Micromelia
ORPHA:93316	COL2A1	1280	HP:0008839	Hypoplastic pelvis
ORPHA:93316	COL2A1	1280	HP:0003019	Abnormality of the wrist
ORPHA:93316	COL2A1	1280	HP:0100255	Metaphyseal dysplasia
OMIM:615237	CLMP	79827	HP:0002028	Chronic diarrhea
OMIM:615237	CLMP	79827	HP:0000007	Autosomal recessive inheritance
OMIM:615237	CLMP	79827	HP:0002570	Steatorrhea
OMIM:615237	CLMP	79827	HP:0002566	Intestinal malrotation
OMIM:615237	CLMP	79827	HP:0030914	Abnormal peristalsis
OMIM:615237	CLMP	79827	HP:0001508	Failure to thrive
OMIM:615237	CLMP	79827	HP:0030897	Decreased intestinal transit time
OMIM:615237	CLMP	79827	HP:0030889	Congenital shortened small intestine
OMIM:186580	NOD2	64127	HP:0000585	Band keratopathy
OMIM:186580	NOD2	64127	HP:0011505	Cystoid macular edema
OMIM:186580	NOD2	64127	HP:0001386	Joint swelling
OMIM:186580	NOD2	64127	HP:0000964	Eczema
OMIM:186580	NOD2	64127	HP:0005830	Flexion contracture of toe
OMIM:186580	NOD2	64127	HP:0000518	Cataract
OMIM:186580	NOD2	64127	HP:0000554	Uveitis
OMIM:186580	NOD2	64127	HP:0001369	Arthritis
OMIM:186580	NOD2	64127	HP:0001291	Abnormality of the cranial nerves
OMIM:186580	NOD2	64127	HP:0100769	Synovitis
OMIM:186580	NOD2	64127	HP:0000598	Abnormality of the ear
OMIM:186580	NOD2	64127	HP:0007432	Intermittent generalized erythematous papular rash
OMIM:186580	NOD2	64127	HP:0007813	Nongranulomatous uveitis
OMIM:186580	NOD2	64127	HP:0200042	Skin ulcer
OMIM:186580	NOD2	64127	HP:0100490	Camptodactyly of finger
OMIM:186580	NOD2	64127	HP:0000006	Autosomal dominant inheritance
OMIM:186580	NOD2	64127	HP:0001101	Iritis
OMIM:186580	NOD2	64127	HP:0000501	Glaucoma
OMIM:186580	NOD2	64127	HP:0025230	Tendonitis
ORPHA:300605	SPG11	80208	HP:0001288	Gait disturbance
ORPHA:300605	SPG11	80208	HP:0007256	Abnormal pyramidal signs
ORPHA:300605	SPG11	80208	HP:0003199	Decreased muscle mass
ORPHA:300605	SPG11	80208	HP:0001260	Dysarthria
ORPHA:300605	SPG11	80208	HP:0001347	Hyperreflexia
ORPHA:300605	SPG11	80208	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:300605	SPG11	80208	HP:0003457	EMG abnormality
ORPHA:300605	SPG11	80208	HP:0001257	Spasticity
ORPHA:300605	SPG11	80208	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:300605	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:300605	SIGMAR1	10280	HP:0001288	Gait disturbance
ORPHA:300605	SIGMAR1	10280	HP:0007256	Abnormal pyramidal signs
ORPHA:300605	SIGMAR1	10280	HP:0003199	Decreased muscle mass
ORPHA:300605	SIGMAR1	10280	HP:0001260	Dysarthria
ORPHA:300605	SIGMAR1	10280	HP:0001347	Hyperreflexia
ORPHA:300605	SIGMAR1	10280	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:300605	SIGMAR1	10280	HP:0003457	EMG abnormality
ORPHA:300605	SIGMAR1	10280	HP:0001257	Spasticity
ORPHA:300605	SIGMAR1	10280	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:300605	SIGMAR1	10280	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:300605	FUS	2521	HP:0001288	Gait disturbance
ORPHA:300605	FUS	2521	HP:0007256	Abnormal pyramidal signs
ORPHA:300605	FUS	2521	HP:0003199	Decreased muscle mass
ORPHA:300605	FUS	2521	HP:0001260	Dysarthria
ORPHA:300605	FUS	2521	HP:0001347	Hyperreflexia
ORPHA:300605	FUS	2521	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:300605	FUS	2521	HP:0003457	EMG abnormality
ORPHA:300605	FUS	2521	HP:0001257	Spasticity
ORPHA:300605	FUS	2521	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:300605	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:300605	ALS2	57679	HP:0001288	Gait disturbance
ORPHA:300605	ALS2	57679	HP:0007256	Abnormal pyramidal signs
ORPHA:300605	ALS2	57679	HP:0003199	Decreased muscle mass
ORPHA:300605	ALS2	57679	HP:0001260	Dysarthria
ORPHA:300605	ALS2	57679	HP:0001347	Hyperreflexia
ORPHA:300605	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:300605	ALS2	57679	HP:0003457	EMG abnormality
ORPHA:300605	ALS2	57679	HP:0001257	Spasticity
ORPHA:300605	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:300605	ALS2	57679	HP:0007354	Amyotrophic lateral sclerosis
OMIM:617142	TRIM44	54765	HP:0000529	Progressive visual loss
OMIM:617142	TRIM44	54765	HP:0000006	Autosomal dominant inheritance
OMIM:617142	TRIM44	54765	HP:0000518	Cataract
OMIM:236250	MTHFR	4524	HP:0002160	Hyperhomocystinemia
OMIM:236250	MTHFR	4524	HP:0000252	Microcephaly
OMIM:236250	MTHFR	4524	HP:0001288	Gait disturbance
OMIM:236250	MTHFR	4524	HP:0002311	Incoordination
OMIM:236250	MTHFR	4524	HP:0001324	Muscle weakness
OMIM:236250	MTHFR	4524	HP:0002156	Homocystinuria
OMIM:236250	MTHFR	4524	HP:0000007	Autosomal recessive inheritance
OMIM:236250	MTHFR	4524	HP:0001250	Seizures
OMIM:236250	MTHFR	4524	HP:0001297	Stroke
OMIM:236250	MTHFR	4524	HP:0003401	Paresthesia
OMIM:236250	MTHFR	4524	HP:0000708	Behavioral abnormality
OMIM:236250	MTHFR	4524	HP:0001263	Global developmental delay
OMIM:615042	DPM2	8818	HP:0002650	Scoliosis
OMIM:615042	DPM2	8818	HP:0003577	Congenital onset
OMIM:615042	DPM2	8818	HP:0000648	Optic atrophy
OMIM:615042	DPM2	8818	HP:0006829	Severe muscular hypotonia
OMIM:615042	DPM2	8818	HP:0011968	Feeding difficulties
OMIM:615042	DPM2	8818	HP:0001250	Seizures
OMIM:615042	DPM2	8818	HP:0000218	High palate
OMIM:615042	DPM2	8818	HP:0000486	Strabismus
OMIM:615042	DPM2	8818	HP:0003196	Short nose
OMIM:615042	DPM2	8818	HP:0000007	Autosomal recessive inheritance
OMIM:615042	DPM2	8818	HP:0001263	Global developmental delay
OMIM:615042	DPM2	8818	HP:0000347	Micrognathia
OMIM:615042	DPM2	8818	HP:0002058	Myopathic facies
OMIM:615042	DPM2	8818	HP:0005484	Postnatal microcephaly
OMIM:615042	DPM2	8818	HP:0002476	Primitive reflex
OMIM:615042	DPM2	8818	HP:0001522	Death in infancy
OMIM:615042	DPM2	8818	HP:0001321	Cerebellar hypoplasia
OMIM:615042	DPM2	8818	HP:0000219	Thin upper lip vermilion
OMIM:615042	DPM2	8818	HP:0000601	Hypotelorism
OMIM:615042	DPM2	8818	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615042	DPM2	8818	HP:0002803	Congenital contracture
OMIM:215150	COL2A1	1280	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis
OMIM:215150	COL2A1	1280	HP:0002656	Epiphyseal dysplasia
OMIM:215150	COL2A1	1280	HP:0004568	Beaking of vertebral bodies
OMIM:215150	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:215150	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:215150	COL2A1	1280	HP:0003088	Premature osteoarthritis
OMIM:215150	COL2A1	1280	HP:0002938	Lumbar hyperlordosis
OMIM:215150	COL2A1	1280	HP:0002829	Arthralgia
OMIM:215150	COL2A1	1280	HP:0000463	Anteverted nares
OMIM:215150	COL2A1	1280	HP:0000414	Bulbous nose
OMIM:215150	COL2A1	1280	HP:0009803	Short phalanx of finger
OMIM:215150	COL2A1	1280	HP:0000272	Malar flattening
OMIM:215150	COL2A1	1280	HP:0000347	Micrognathia
OMIM:215150	COL2A1	1280	HP:0001371	Flexion contracture
OMIM:215150	COL2A1	1280	HP:0004679	Large tarsal bones
OMIM:215150	COL2A1	1280	HP:0000410	Mixed hearing impairment
OMIM:215150	COL2A1	1280	HP:0004279	Short palm
OMIM:215150	COL2A1	1280	HP:0003026	Short long bone
OMIM:215150	COL2A1	1280	HP:0000175	Cleft palate
OMIM:215150	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
OMIM:215150	COL2A1	1280	HP:0003015	Flared metaphysis
OMIM:215150	COL2A1	1280	HP:0000007	Autosomal recessive inheritance
OMIM:215150	COL2A1	1280	HP:0006237	Prominent interphalangeal joints
OMIM:215150	COL2A1	1280	HP:0004322	Short stature
OMIM:215150	COL2A1	1280	HP:0000201	Pierre-Robin sequence
OMIM:215150	COL2A1	1280	HP:0011800	Midface retrusion
OMIM:215150	COL2A1	1280	HP:0003037	Enlarged joints
OMIM:215150	COL2A1	1280	HP:0006532	Recurrent pneumonia
OMIM:215150	COL11A2	1302	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis
OMIM:215150	COL11A2	1302	HP:0002656	Epiphyseal dysplasia
OMIM:215150	COL11A2	1302	HP:0004568	Beaking of vertebral bodies
OMIM:215150	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:215150	COL11A2	1302	HP:0010049	Short metacarpal
OMIM:215150	COL11A2	1302	HP:0003088	Premature osteoarthritis
OMIM:215150	COL11A2	1302	HP:0002938	Lumbar hyperlordosis
OMIM:215150	COL11A2	1302	HP:0002829	Arthralgia
OMIM:215150	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:215150	COL11A2	1302	HP:0000414	Bulbous nose
OMIM:215150	COL11A2	1302	HP:0009803	Short phalanx of finger
OMIM:215150	COL11A2	1302	HP:0000272	Malar flattening
OMIM:215150	COL11A2	1302	HP:0000347	Micrognathia
OMIM:215150	COL11A2	1302	HP:0001371	Flexion contracture
OMIM:215150	COL11A2	1302	HP:0004679	Large tarsal bones
OMIM:215150	COL11A2	1302	HP:0000410	Mixed hearing impairment
OMIM:215150	COL11A2	1302	HP:0004279	Short palm
OMIM:215150	COL11A2	1302	HP:0003026	Short long bone
OMIM:215150	COL11A2	1302	HP:0000175	Cleft palate
OMIM:215150	COL11A2	1302	HP:0003417	Coronal cleft vertebrae
OMIM:215150	COL11A2	1302	HP:0003015	Flared metaphysis
OMIM:215150	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:215150	COL11A2	1302	HP:0006237	Prominent interphalangeal joints
OMIM:215150	COL11A2	1302	HP:0004322	Short stature
OMIM:215150	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:215150	COL11A2	1302	HP:0011800	Midface retrusion
OMIM:215150	COL11A2	1302	HP:0003037	Enlarged joints
OMIM:215150	COL11A2	1302	HP:0006532	Recurrent pneumonia
OMIM:612561	RPL5	6125	HP:0001508	Failure to thrive
OMIM:612561	RPL5	6125	HP:0000347	Micrognathia
OMIM:612561	RPL5	6125	HP:0000316	Hypertelorism
OMIM:612561	RPL5	6125	HP:0005518	Increased mean corpuscular volume
OMIM:612561	RPL5	6125	HP:0009778	Short thumb
OMIM:612561	RPL5	6125	HP:0002779	Tracheomalacia
OMIM:612561	RPL5	6125	HP:0000175	Cleft palate
OMIM:612561	RPL5	6125	HP:0001510	Growth delay
OMIM:612561	RPL5	6125	HP:0001634	Mitral valve prolapse
OMIM:612561	RPL5	6125	HP:0001714	Ventricular hypertrophy
OMIM:612561	RPL5	6125	HP:0000193	Bifid uvula
OMIM:612561	RPL5	6125	HP:0001636	Tetralogy of Fallot
OMIM:612561	RPL5	6125	HP:0000204	Cleft upper lip
OMIM:612561	RPL5	6125	HP:0001643	Patent ductus arteriosus
OMIM:612561	RPL5	6125	HP:0001653	Mitral regurgitation
OMIM:612561	RPL5	6125	HP:0011904	Persistence of hemoglobin F
OMIM:612561	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612561	RPL5	6125	HP:0001629	Ventricular septal defect
OMIM:612561	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:617296	KIDINS220	57498	HP:0000639	Nystagmus
OMIM:617296	KIDINS220	57498	HP:0011220	Prominent forehead
OMIM:617296	KIDINS220	57498	HP:0007663	Reduced visual acuity
OMIM:617296	KIDINS220	57498	HP:0000565	Esotropia
OMIM:617296	KIDINS220	57498	HP:0006956	Dilation of lateral ventricles
OMIM:617296	KIDINS220	57498	HP:0001249	Intellectual disability
OMIM:617296	KIDINS220	57498	HP:0000483	Astigmatism
OMIM:617296	KIDINS220	57498	HP:0008936	Muscular hypotonia of the trunk
OMIM:617296	KIDINS220	57498	HP:0000490	Deeply set eye
OMIM:617296	KIDINS220	57498	HP:0002059	Cerebral atrophy
OMIM:617296	KIDINS220	57498	HP:0001263	Global developmental delay
OMIM:617296	KIDINS220	57498	HP:0002509	Limb hypertonia
OMIM:617296	KIDINS220	57498	HP:0001258	Spastic paraplegia
OMIM:617296	KIDINS220	57498	HP:0000293	Full cheeks
OMIM:617296	KIDINS220	57498	HP:0000540	Hypermetropia
OMIM:617296	KIDINS220	57498	HP:0000750	Delayed speech and language development
OMIM:617296	KIDINS220	57498	HP:0012448	Delayed myelination
OMIM:617296	KIDINS220	57498	HP:0001347	Hyperreflexia
OMIM:617296	KIDINS220	57498	HP:0003593	Infantile onset
OMIM:617296	KIDINS220	57498	HP:0000006	Autosomal dominant inheritance
OMIM:617337	KDF1	126695	HP:0011120	Concave nasal ridge
OMIM:617337	KDF1	126695	HP:0007387	Hypoplastic sweat glands
OMIM:617337	KDF1	126695	HP:0008404	Nail dystrophy
OMIM:617337	KDF1	126695	HP:0000006	Autosomal dominant inheritance
OMIM:617337	KDF1	126695	HP:0000966	Hypohidrosis
OMIM:617337	KDF1	126695	HP:0040154	Acne inversa
OMIM:616726	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:616726	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:616726	GAS8	2622	HP:0006532	Recurrent pneumonia
OMIM:616726	GAS8	2622	HP:0002257	Chronic rhinitis
OMIM:616726	GAS8	2622	HP:0012265	Ciliary dyskinesia
OMIM:616726	GAS8	2622	HP:0002837	Recurrent bronchitis
OMIM:616726	GAS8	2622	HP:0012735	Cough
OMIM:616726	GAS8	2622	HP:0100750	Atelectasis
OMIM:616726	GAS8	2622	HP:0000405	Conductive hearing impairment
OMIM:616726	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:609338	PPARG	5468	HP:0012273	Increased carotid artery intimal medial thickness
OMIM:609338	PPARG	5468	HP:0010982	Polygenic inheritance
OMIM:600081	CYP2R1	120227	HP:0002148	Hypophosphatemia
OMIM:600081	CYP2R1	120227	HP:0002355	Difficulty walking
OMIM:600081	CYP2R1	120227	HP:0002979	Bowing of the legs
OMIM:600081	CYP2R1	120227	HP:0000886	Deformed rib cage
OMIM:600081	CYP2R1	120227	HP:0002752	Sparse bone trabeculae
OMIM:600081	CYP2R1	120227	HP:0001290	Generalized hypotonia
OMIM:600081	CYP2R1	120227	HP:0005469	Flat occiput
OMIM:600081	CYP2R1	120227	HP:0004492	Widely patent fontanelles and sutures
OMIM:600081	CYP2R1	120227	HP:0003020	Enlargement of the wrists
OMIM:600081	CYP2R1	120227	HP:0001324	Muscle weakness
OMIM:600081	CYP2R1	120227	HP:0002980	Femoral bowing
OMIM:600081	CYP2R1	120227	HP:0002757	Recurrent fractures
OMIM:600081	CYP2R1	120227	HP:0010502	Fibular bowing
OMIM:600081	CYP2R1	120227	HP:0003029	Enlargement of the ankles
OMIM:600081	CYP2R1	120227	HP:0002007	Frontal bossing
OMIM:600081	CYP2R1	120227	HP:0003013	Bulging epiphyses
OMIM:600081	CYP2R1	120227	HP:0000920	Enlargement of the costochondral junction
OMIM:600081	CYP2R1	120227	HP:0000007	Autosomal recessive inheritance
OMIM:600081	CYP2R1	120227	HP:0002663	Delayed epiphyseal ossification
OMIM:600081	CYP2R1	120227	HP:0000893	Bulging of the costochondral junction
OMIM:600081	CYP2R1	120227	HP:0003155	Elevated alkaline phosphatase
OMIM:600081	CYP2R1	120227	HP:0003593	Infantile onset
OMIM:600081	CYP2R1	120227	HP:0002653	Bone pain
OMIM:600081	CYP2R1	120227	HP:0001510	Growth delay
OMIM:600081	CYP2R1	120227	HP:0003698	Difficulty standing
OMIM:600081	CYP2R1	120227	HP:0002748	Rickets
OMIM:600081	CYP2R1	120227	HP:0002982	Tibial bowing
OMIM:600081	CYP2R1	120227	HP:0003025	Metaphyseal irregularity
OMIM:600081	CYP2R1	120227	HP:0001508	Failure to thrive
OMIM:600081	CYP2R1	120227	HP:0002753	Thin bony cortex
OMIM:616943	GTF2E2	2961	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:616943	GTF2E2	2961	HP:0004322	Short stature
OMIM:616943	GTF2E2	2961	HP:0002423	Long-tract signs
OMIM:616943	GTF2E2	2961	HP:0002342	Intellectual disability, moderate
OMIM:616943	GTF2E2	2961	HP:0045055	Tiger tail banding
OMIM:616943	GTF2E2	2961	HP:0000007	Autosomal recessive inheritance
OMIM:616943	GTF2E2	2961	HP:0002299	Brittle hair
OMIM:616943	GTF2E2	2961	HP:0000565	Esotropia
OMIM:616943	GTF2E2	2961	HP:0002217	Slow-growing hair
OMIM:616943	GTF2E2	2961	HP:0001270	Motor delay
OMIM:616943	GTF2E2	2961	HP:0000252	Microcephaly
OMIM:616943	GTF2E2	2961	HP:0000958	Dry skin
OMIM:616943	GTF2E2	2961	HP:0008883	Mild intrauterine growth retardation
OMIM:616943	GTF2E2	2961	HP:0001518	Small for gestational age
OMIM:616943	GTF2E2	2961	HP:0004440	Coronal craniosynostosis
ORPHA:158676	COL7A1	1294	HP:0001802	Absent toenail
ORPHA:158676	COL7A1	1294	HP:0001810	Dystrophic toenail
ORPHA:1826	MAP3K7	6885	HP:0004493	Craniofacial hyperostosis
ORPHA:1826	MAP3K7	6885	HP:0100807	Long fingers
ORPHA:1826	MAP3K7	6885	HP:0006482	Abnormality of dental morphology
ORPHA:1826	MAP3K7	6885	HP:0000316	Hypertelorism
ORPHA:1826	MAP3K7	6885	HP:0009004	Hypoplasia of the musculature
ORPHA:1826	MAP3K7	6885	HP:0006487	Bowing of the long bones
ORPHA:1826	MAP3K7	6885	HP:0000407	Sensorineural hearing impairment
ORPHA:1826	MAP3K7	6885	HP:0009465	Ulnar deviation of finger
ORPHA:1826	MAP3K7	6885	HP:0000218	High palate
ORPHA:1826	MAP3K7	6885	HP:0005048	Synostosis of carpal bones
ORPHA:1826	MAP3K7	6885	HP:0010103	Short distal phalanx of hallux
ORPHA:1826	MAP3K7	6885	HP:0001387	Joint stiffness
ORPHA:1826	MAP3K7	6885	HP:0000405	Conductive hearing impairment
ORPHA:1826	MAP3K7	6885	HP:0002650	Scoliosis
ORPHA:1826	MAP3K7	6885	HP:0008451	Posterior vertebral hypoplasia
ORPHA:1826	MAP3K7	6885	HP:0002949	Fused cervical vertebrae
ORPHA:1826	MAP3K7	6885	HP:0000347	Micrognathia
ORPHA:1826	MAP3K7	6885	HP:0000494	Downslanted palpebral fissures
ORPHA:1826	MAP3K7	6885	HP:0005616	Accelerated skeletal maturation
ORPHA:1826	MAP3K7	6885	HP:0000336	Prominent supraorbital ridges
ORPHA:1826	MAP3K7	6885	HP:0003042	Elbow dislocation
ORPHA:1826	MAP3K7	6885	HP:0005453	Absent/hypoplastic paranasal sinuses
ORPHA:1826	MAP3K7	6885	HP:0010493	Long metacarpals
ORPHA:1826	MAP3K7	6885	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:1826	MAP3K7	6885	HP:0006160	Irregular metacarpals
ORPHA:1826	MAP3K7	6885	HP:0000944	Abnormality of the metaphysis
ORPHA:1826	MAP3K7	6885	HP:0009804	Reduced number of teeth
ORPHA:1826	MAP3K7	6885	HP:0100490	Camptodactyly of finger
ORPHA:1826	MAP3K7	6885	HP:0009650	Short distal phalanx of the thumb
ORPHA:1826	FLNA	2316	HP:0004493	Craniofacial hyperostosis
ORPHA:1826	FLNA	2316	HP:0100807	Long fingers
ORPHA:1826	FLNA	2316	HP:0006482	Abnormality of dental morphology
ORPHA:1826	FLNA	2316	HP:0000316	Hypertelorism
ORPHA:1826	FLNA	2316	HP:0009004	Hypoplasia of the musculature
ORPHA:1826	FLNA	2316	HP:0006487	Bowing of the long bones
ORPHA:1826	FLNA	2316	HP:0000407	Sensorineural hearing impairment
ORPHA:1826	FLNA	2316	HP:0009465	Ulnar deviation of finger
ORPHA:1826	FLNA	2316	HP:0000218	High palate
ORPHA:1826	FLNA	2316	HP:0005048	Synostosis of carpal bones
ORPHA:1826	FLNA	2316	HP:0010103	Short distal phalanx of hallux
ORPHA:1826	FLNA	2316	HP:0001387	Joint stiffness
ORPHA:1826	FLNA	2316	HP:0000405	Conductive hearing impairment
ORPHA:1826	FLNA	2316	HP:0002650	Scoliosis
ORPHA:1826	FLNA	2316	HP:0008451	Posterior vertebral hypoplasia
ORPHA:1826	FLNA	2316	HP:0002949	Fused cervical vertebrae
ORPHA:1826	FLNA	2316	HP:0000347	Micrognathia
ORPHA:1826	FLNA	2316	HP:0000494	Downslanted palpebral fissures
ORPHA:1826	FLNA	2316	HP:0005616	Accelerated skeletal maturation
ORPHA:1826	FLNA	2316	HP:0000336	Prominent supraorbital ridges
ORPHA:1826	FLNA	2316	HP:0003042	Elbow dislocation
ORPHA:1826	FLNA	2316	HP:0005453	Absent/hypoplastic paranasal sinuses
ORPHA:1826	FLNA	2316	HP:0010493	Long metacarpals
ORPHA:1826	FLNA	2316	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:1826	FLNA	2316	HP:0006160	Irregular metacarpals
ORPHA:1826	FLNA	2316	HP:0000944	Abnormality of the metaphysis
ORPHA:1826	FLNA	2316	HP:0009804	Reduced number of teeth
ORPHA:1826	FLNA	2316	HP:0100490	Camptodactyly of finger
ORPHA:1826	FLNA	2316	HP:0009650	Short distal phalanx of the thumb
OMIM:604757	MSX2	4488	HP:0000244	Brachyturricephaly
OMIM:604757	MSX2	4488	HP:0011318	Bicoronal synostosis
OMIM:604757	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:604757	MSX2	4488	HP:0000243	Trigonocephaly
OMIM:604757	MSX2	4488	HP:0011315	Unicoronal synostosis
OMIM:604757	MSX2	4488	HP:0002007	Frontal bossing
OMIM:613951	SLX4	84464	HP:0003828	Variable expressivity
OMIM:613951	SLX4	84464	HP:0001876	Pancytopenia
OMIM:613951	SLX4	84464	HP:0001903	Anemia
OMIM:613951	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:613951	SLX4	84464	HP:0004322	Short stature
OMIM:613951	SLX4	84464	HP:0000957	Cafe-au-lait spot
ORPHA:1031	FAM20A	54757	HP:0000705	Amelogenesis imperfecta
ORPHA:1031	FAM20A	54757	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:1031	FAM20A	54757	HP:0006286	Yellow-brown discoloration of the teeth
ORPHA:1031	FAM20A	54757	HP:0000684	Delayed eruption of teeth
ORPHA:1031	FAM20A	54757	HP:0000112	Nephropathy
ORPHA:1031	FAM20A	54757	HP:0000121	Nephrocalcinosis
OMIM:600901	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:600901	FANCE	2178	HP:0009777	Absent thumb
OMIM:600901	FANCE	2178	HP:0001017	Anemic pallor
OMIM:600901	FANCE	2178	HP:0000086	Ectopic kidney
OMIM:600901	FANCE	2178	HP:0001876	Pancytopenia
OMIM:600901	FANCE	2178	HP:0003974	Absent radius
OMIM:600901	FANCE	2178	HP:0001627	Abnormal heart morphology
OMIM:600901	FANCE	2178	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCE	2178	HP:0009778	Short thumb
OMIM:600901	FANCE	2178	HP:0001903	Anemia
OMIM:600901	FANCE	2178	HP:0001909	Leukemia
OMIM:600901	FANCE	2178	HP:0001896	Reticulocytopenia
OMIM:600901	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCE	2178	HP:0001875	Neutropenia
OMIM:600901	FANCE	2178	HP:0000568	Microphthalmia
OMIM:600901	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:600901	FANCE	2178	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCE	2178	HP:0000104	Renal agenesis
OMIM:600901	FANCE	2178	HP:0001263	Global developmental delay
OMIM:600901	FANCE	2178	HP:0004322	Short stature
OMIM:600901	FANCE	2178	HP:0001518	Small for gestational age
OMIM:600901	FANCE	2178	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:600901	FANCE	2178	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCE	2178	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCE	2178	HP:0000252	Microcephaly
OMIM:600901	FANCE	2178	HP:0000486	Strabismus
OMIM:600901	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:600901	FANCE	2178	HP:0000081	Duplicated collecting system
OMIM:600901	FANCE	2178	HP:0000978	Bruising susceptibility
OMIM:600901	FANCE	2178	HP:0000365	Hearing impairment
OMIM:600901	FANCE	2178	HP:0001249	Intellectual disability
OMIM:300751	ALAS2	212	HP:0004840	Hypochromic microcytic anemia
OMIM:300751	ALAS2	212	HP:0001419	X-linked recessive inheritance
OMIM:300751	ALAS2	212	HP:0001972	Macrocytic anemia
OMIM:300751	ALAS2	212	HP:0003828	Variable expressivity
OMIM:300751	ALAS2	212	HP:0001924	Sideroblastic anemia
OMIM:300511	DIAPH2	1730	HP:0000869	Secondary amenorrhea
OMIM:300511	DIAPH2	1730	HP:0001423	X-linked dominant inheritance
OMIM:300511	DIAPH2	1730	HP:0008209	Premature ovarian insufficiency
OMIM:613916	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613916	KARS	3735	HP:0000365	Hearing impairment
ORPHA:324713	APP	351	HP:0000726	Dementia
ORPHA:324713	APP	351	HP:0001297	Stroke
ORPHA:324713	APP	351	HP:0001342	Cerebral hemorrhage
ORPHA:324713	APP	351	HP:0001259	Coma
ORPHA:324713	APP	351	HP:0001250	Seizures
ORPHA:324713	APP	351	HP:0002076	Migraine
OMIM:211180	EMG1	10436	HP:0000007	Autosomal recessive inheritance
OMIM:211180	EMG1	10436	HP:0000347	Micrognathia
OMIM:211180	EMG1	10436	HP:0000448	Prominent nose
OMIM:211180	EMG1	10436	HP:0004209	Clinodactyly of the 5th finger
OMIM:211180	EMG1	10436	HP:0001367	Abnormal joint morphology
OMIM:211180	EMG1	10436	HP:0001518	Small for gestational age
OMIM:211180	EMG1	10436	HP:0001838	Rocker bottom foot
OMIM:211180	EMG1	10436	HP:0000252	Microcephaly
OMIM:614115	LAMC3	10319	HP:0000572	Visual loss
OMIM:614115	LAMC3	10319	HP:0000007	Autosomal recessive inheritance
OMIM:614115	LAMC3	10319	HP:0002353	EEG abnormality
OMIM:225300	WNT10B	7480	HP:0006101	Finger syndactyly
OMIM:225300	WNT10B	7480	HP:0001171	Split hand
OMIM:225300	WNT10B	7480	HP:0001849	Foot oligodactyly
OMIM:225300	WNT10B	7480	HP:0000007	Autosomal recessive inheritance
OMIM:225300	WNT10B	7480	HP:0003829	Incomplete penetrance
OMIM:225300	WNT10B	7480	HP:0001180	Hand oligodactyly
OMIM:225300	WNT10B	7480	HP:0001839	Split foot
OMIM:225300	WNT10B	7480	HP:0001770	Toe syndactyly
OMIM:176305	HOXA13	3209	HP:0000807	Glandular hypospadias
OMIM:176305	HOXA13	3209	HP:0001885	Short 2nd toe
OMIM:176305	HOXA13	3209	HP:0000006	Autosomal dominant inheritance
OMIM:176305	HOXA13	3209	HP:0001162	Postaxial hand polydactyly
OMIM:104200	COL4A3	1285	HP:0030034	Diffuse glomerular basement membrane lamellation
OMIM:104200	COL4A3	1285	HP:0002148	Hypophosphatemia
OMIM:104200	COL4A3	1285	HP:0001142	Lenticonus
OMIM:104200	COL4A3	1285	HP:0000100	Nephrotic syndrome
OMIM:104200	COL4A3	1285	HP:0004722	Thickening of the glomerular basement membrane
OMIM:104200	COL4A3	1285	HP:0000006	Autosomal dominant inheritance
OMIM:104200	COL4A3	1285	HP:0000093	Proteinuria
OMIM:104200	COL4A3	1285	HP:0000121	Nephrocalcinosis
OMIM:104200	COL4A3	1285	HP:0000822	Hypertension
OMIM:104200	COL4A3	1285	HP:0000407	Sensorineural hearing impairment
OMIM:104200	COL4A3	1285	HP:0003774	Stage 5 chronic kidney disease
OMIM:104200	COL4A3	1285	HP:0003676	Progressive
OMIM:104200	COL4A3	1285	HP:0000099	Glomerulonephritis
OMIM:104200	COL4A3	1285	HP:0000545	Myopia
OMIM:104200	COL4A3	1285	HP:0001134	Anterior polar cataract
OMIM:104200	COL4A3	1285	HP:0000790	Hematuria
OMIM:104200	COL4A3	1285	HP:0002157	Azotemia
ORPHA:90349	FBLN5	10516	HP:0000015	Bladder diverticulum
ORPHA:90349	FBLN5	10516	HP:0005692	Joint hyperflexibility
ORPHA:90349	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90349	FBLN5	10516	HP:0005313	Arterial fibromuscular dysplasia
ORPHA:90349	FBLN5	10516	HP:0000508	Ptosis
ORPHA:90349	FBLN5	10516	HP:0100678	Premature skin wrinkling
ORPHA:90349	FBLN5	10516	HP:0001582	Redundant skin
ORPHA:90349	FBLN5	10516	HP:0000010	Recurrent urinary tract infections
ORPHA:90349	FBLN5	10516	HP:0000293	Full cheeks
ORPHA:90349	FBLN5	10516	HP:0000270	Delayed cranial suture closure
ORPHA:90349	FBLN5	10516	HP:0100545	Arterial stenosis
ORPHA:90349	FBLN5	10516	HP:0100877	Renal diverticulum
ORPHA:90349	FBLN5	10516	HP:0000023	Inguinal hernia
ORPHA:90349	FBLN5	10516	HP:0004942	Aortic aneurysm
ORPHA:90349	FBLN5	10516	HP:0002097	Emphysema
ORPHA:90349	FBLN5	10516	HP:0002595	Ileus
ORPHA:90349	FBLN5	10516	HP:0100750	Atelectasis
ORPHA:90349	EFEMP2	30008	HP:0000015	Bladder diverticulum
ORPHA:90349	EFEMP2	30008	HP:0005692	Joint hyperflexibility
ORPHA:90349	EFEMP2	30008	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90349	EFEMP2	30008	HP:0005313	Arterial fibromuscular dysplasia
ORPHA:90349	EFEMP2	30008	HP:0000508	Ptosis
ORPHA:90349	EFEMP2	30008	HP:0100678	Premature skin wrinkling
ORPHA:90349	EFEMP2	30008	HP:0001582	Redundant skin
ORPHA:90349	EFEMP2	30008	HP:0000010	Recurrent urinary tract infections
ORPHA:90349	EFEMP2	30008	HP:0000293	Full cheeks
ORPHA:90349	EFEMP2	30008	HP:0000270	Delayed cranial suture closure
ORPHA:90349	EFEMP2	30008	HP:0100545	Arterial stenosis
ORPHA:90349	EFEMP2	30008	HP:0100877	Renal diverticulum
ORPHA:90349	EFEMP2	30008	HP:0000023	Inguinal hernia
ORPHA:90349	EFEMP2	30008	HP:0004942	Aortic aneurysm
ORPHA:90349	EFEMP2	30008	HP:0002097	Emphysema
ORPHA:90349	EFEMP2	30008	HP:0002595	Ileus
ORPHA:90349	EFEMP2	30008	HP:0100750	Atelectasis
OMIM:614499	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614499	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614499	CRADD	8738	HP:0040194	Increased head circumference
OMIM:614499	CRADD	8738	HP:0001355	Megalencephaly
OMIM:614499	CRADD	8738	HP:0000750	Delayed speech and language development
OMIM:614499	CRADD	8738	HP:0001339	Lissencephaly
OMIM:615007	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:615007	PDGFRB	5159	HP:0002135	Basal ganglia calcification
OMIM:615007	PDGFRB	5159	HP:0000716	Depressivity
OMIM:248500	MAN2B1	4125	HP:0000007	Autosomal recessive inheritance
OMIM:248500	MAN2B1	4125	HP:0000337	Broad forehead
OMIM:248500	MAN2B1	4125	HP:0007893	Progressive retinal degeneration
OMIM:248500	MAN2B1	4125	HP:0000998	Hypertrichosis
OMIM:248500	MAN2B1	4125	HP:0003487	Babinski sign
OMIM:248500	MAN2B1	4125	HP:0000158	Macroglossia
OMIM:248500	MAN2B1	4125	HP:0005469	Flat occiput
OMIM:248500	MAN2B1	4125	HP:0002171	Gliosis
OMIM:248500	MAN2B1	4125	HP:0000768	Pectus carinatum
OMIM:248500	MAN2B1	4125	HP:0000294	Low anterior hairline
OMIM:248500	MAN2B1	4125	HP:0001744	Splenomegaly
OMIM:248500	MAN2B1	4125	HP:0002070	Limb ataxia
OMIM:248500	MAN2B1	4125	HP:0012448	Delayed myelination
OMIM:248500	MAN2B1	4125	HP:0000272	Malar flattening
OMIM:248500	MAN2B1	4125	HP:0000023	Inguinal hernia
OMIM:248500	MAN2B1	4125	HP:0000943	Dysostosis multiplex
OMIM:248500	MAN2B1	4125	HP:0002240	Hepatomegaly
OMIM:248500	MAN2B1	4125	HP:0002980	Femoral bowing
OMIM:248500	MAN2B1	4125	HP:0002059	Cerebral atrophy
OMIM:248500	MAN2B1	4125	HP:0001260	Dysarthria
OMIM:248500	MAN2B1	4125	HP:0000256	Macrocephaly
OMIM:248500	MAN2B1	4125	HP:0000303	Mandibular prognathia
OMIM:248500	MAN2B1	4125	HP:0000639	Nystagmus
OMIM:248500	MAN2B1	4125	HP:0000574	Thick eyebrow
OMIM:248500	MAN2B1	4125	HP:0000286	Epicanthus
OMIM:248500	MAN2B1	4125	HP:0002684	Thickened calvaria
OMIM:248500	MAN2B1	4125	HP:0000400	Macrotia
OMIM:248500	MAN2B1	4125	HP:0001257	Spasticity
OMIM:248500	MAN2B1	4125	HP:0001263	Global developmental delay
OMIM:248500	MAN2B1	4125	HP:0005619	Thoracolumbar kyphosis
OMIM:248500	MAN2B1	4125	HP:0001510	Growth delay
OMIM:248500	MAN2B1	4125	HP:0004570	Increased vertebral height
OMIM:248500	MAN2B1	4125	HP:0000457	Depressed nasal ridge
OMIM:248500	MAN2B1	4125	HP:0002718	Recurrent bacterial infections
OMIM:248500	MAN2B1	4125	HP:0002066	Gait ataxia
OMIM:248500	MAN2B1	4125	HP:0000212	Gingival overgrowth
OMIM:248500	MAN2B1	4125	HP:0002007	Frontal bossing
OMIM:248500	MAN2B1	4125	HP:0007232	Spinocerebellar tract disease in lower limbs
OMIM:248500	MAN2B1	4125	HP:0001290	Generalized hypotonia
OMIM:248500	MAN2B1	4125	HP:0001547	Abnormality of the rib cage
OMIM:248500	MAN2B1	4125	HP:0001249	Intellectual disability
OMIM:248500	MAN2B1	4125	HP:0007772	Impaired smooth pursuit
OMIM:248500	MAN2B1	4125	HP:0001922	Vacuolated lymphocytes
OMIM:248500	MAN2B1	4125	HP:0001347	Hyperreflexia
OMIM:248500	MAN2B1	4125	HP:0011800	Midface retrusion
OMIM:248500	MAN2B1	4125	HP:0003302	Spondylolisthesis
OMIM:248500	MAN2B1	4125	HP:0000280	Coarse facial features
OMIM:248500	MAN2B1	4125	HP:0000407	Sensorineural hearing impairment
OMIM:248500	MAN2B1	4125	HP:0001272	Cerebellar atrophy
OMIM:248500	MAN2B1	4125	HP:0004313	Decreased antibody level in blood
OMIM:248500	MAN2B1	4125	HP:0000687	Widely spaced teeth
OMIM:617107	FIBP	9158	HP:0000158	Macroglossia
OMIM:617107	FIBP	9158	HP:0000286	Epicanthus
OMIM:617107	FIBP	9158	HP:0000494	Downslanted palpebral fissures
OMIM:617107	FIBP	9158	HP:0001263	Global developmental delay
OMIM:617107	FIBP	9158	HP:0001256	Intellectual disability, mild
OMIM:617107	FIBP	9158	HP:0001847	Long hallux
OMIM:617107	FIBP	9158	HP:0030037	Bifid ureter
OMIM:617107	FIBP	9158	HP:0000589	Coloboma
OMIM:617107	FIBP	9158	HP:0001176	Large hands
OMIM:617107	FIBP	9158	HP:0001520	Large for gestational age
OMIM:617107	FIBP	9158	HP:0000316	Hypertelorism
OMIM:617107	FIBP	9158	HP:0000486	Strabismus
OMIM:617107	FIBP	9158	HP:0000400	Macrotia
OMIM:617107	FIBP	9158	HP:0001548	Overgrowth
OMIM:617107	FIBP	9158	HP:0012471	Thick vermilion border
OMIM:617107	FIBP	9158	HP:0001634	Mitral valve prolapse
OMIM:617107	FIBP	9158	HP:0002619	Varicose veins
OMIM:617107	FIBP	9158	HP:0000007	Autosomal recessive inheritance
OMIM:617107	FIBP	9158	HP:0001833	Long foot
OMIM:617107	FIBP	9158	HP:0004712	Renal malrotation
OMIM:617107	FIBP	9158	HP:0000311	Round face
OMIM:617107	FIBP	9158	HP:0011800	Midface retrusion
OMIM:617107	FIBP	9158	HP:0000490	Deeply set eye
ORPHA:2710	GJA1	2697	HP:0001347	Hyperreflexia
ORPHA:2710	GJA1	2697	HP:0008499	High-grade hypermetropia
ORPHA:2710	GJA1	2697	HP:0000316	Hypertelorism
ORPHA:2710	GJA1	2697	HP:0000405	Conductive hearing impairment
ORPHA:2710	GJA1	2697	HP:0004495	Thin anteverted nares
ORPHA:2710	GJA1	2697	HP:0000303	Mandibular prognathia
ORPHA:2710	GJA1	2697	HP:0001288	Gait disturbance
ORPHA:2710	GJA1	2697	HP:0000518	Cataract
ORPHA:2710	GJA1	2697	HP:0009804	Reduced number of teeth
ORPHA:2710	GJA1	2697	HP:0002217	Slow-growing hair
ORPHA:2710	GJA1	2697	HP:0000482	Microcornea
ORPHA:2710	GJA1	2697	HP:0006323	Premature loss of primary teeth
ORPHA:2710	GJA1	2697	HP:0001770	Toe syndactyly
ORPHA:2710	GJA1	2697	HP:0000944	Abnormality of the metaphysis
ORPHA:2710	GJA1	2697	HP:0002514	Cerebral calcification
ORPHA:2710	GJA1	2697	HP:0001324	Muscle weakness
ORPHA:2710	GJA1	2697	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
ORPHA:2710	GJA1	2697	HP:0000011	Neurogenic bladder
ORPHA:2710	GJA1	2697	HP:0004437	Cranial hyperostosis
ORPHA:2710	GJA1	2697	HP:0011342	Mild global developmental delay
ORPHA:2710	GJA1	2697	HP:0000187	Broad alveolar ridges
ORPHA:2710	GJA1	2697	HP:0000175	Cleft palate
ORPHA:2710	GJA1	2697	HP:0000682	Abnormality of dental enamel
ORPHA:2710	GJA1	2697	HP:0000670	Carious teeth
ORPHA:2710	GJA1	2697	HP:0002212	Curly hair
ORPHA:2710	GJA1	2697	HP:0000545	Myopia
ORPHA:2710	GJA1	2697	HP:0000601	Hypotelorism
ORPHA:2710	GJA1	2697	HP:0000348	High forehead
ORPHA:2710	GJA1	2697	HP:0002313	Spastic paraparesis
ORPHA:2710	GJA1	2697	HP:0000161	Median cleft lip
ORPHA:2710	GJA1	2697	HP:0000648	Optic atrophy
ORPHA:2710	GJA1	2697	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2710	GJA1	2697	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:2710	GJA1	2697	HP:0001006	Hypotrichosis
ORPHA:2710	GJA1	2697	HP:0100490	Camptodactyly of finger
ORPHA:2710	GJA1	2697	HP:0000501	Glaucoma
ORPHA:2710	GJA1	2697	HP:0001260	Dysarthria
ORPHA:2710	GJA1	2697	HP:0000446	Narrow nasal bridge
ORPHA:2710	GJA1	2697	HP:0008572	External ear malformation
ORPHA:2710	GJA1	2697	HP:0003103	Abnormal cortical bone morphology
ORPHA:2710	GJA1	2697	HP:0006101	Finger syndactyly
ORPHA:2710	GJA1	2697	HP:0001251	Ataxia
ORPHA:2710	GJA1	2697	HP:0010761	Broad columella
ORPHA:2710	GJA1	2697	HP:0000430	Underdeveloped nasal alae
ORPHA:2710	GJA1	2697	HP:0003196	Short nose
ORPHA:2710	GJA1	2697	HP:0000505	Visual impairment
ORPHA:2710	GJA1	2697	HP:0001250	Seizures
ORPHA:2710	GJA1	2697	HP:0001231	Abnormality of the fingernails
OMIM:615553	SLC35A3	23443	HP:0000308	Microretrognathia
OMIM:615553	SLC35A3	23443	HP:0000252	Microcephaly
OMIM:615553	SLC35A3	23443	HP:0100490	Camptodactyly of finger
OMIM:615553	SLC35A3	23443	HP:0004976	Knee dislocation
OMIM:615553	SLC35A3	23443	HP:0001263	Global developmental delay
OMIM:615553	SLC35A3	23443	HP:0002827	Hip dislocation
OMIM:615553	SLC35A3	23443	HP:0001249	Intellectual disability
OMIM:615553	SLC35A3	23443	HP:0000007	Autosomal recessive inheritance
OMIM:615553	SLC35A3	23443	HP:0001290	Generalized hypotonia
OMIM:615553	SLC35A3	23443	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615553	SLC35A3	23443	HP:0000729	Autistic behavior
OMIM:615553	SLC35A3	23443	HP:0001250	Seizures
OMIM:616445	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:616445	IL17RC	84818	HP:0012203	Onychomycosis
OMIM:616445	IL17RC	84818	HP:0011107	Recurrent aphthous stomatitis
OMIM:227400	F5	2153	HP:0000132	Menorrhagia
OMIM:227400	F5	2153	HP:0003645	Prolonged partial thromboplastin time
OMIM:227400	F5	2153	HP:0003010	Prolonged bleeding time
OMIM:227400	F5	2153	HP:0000421	Epistaxis
OMIM:227400	F5	2153	HP:0000007	Autosomal recessive inheritance
OMIM:227400	F5	2153	HP:0000978	Bruising susceptibility
OMIM:227400	F5	2153	HP:0005542	Prolonged whole-blood clotting time
OMIM:227400	F5	2153	HP:0003225	Reduced factor V activity
OMIM:227400	F5	2153	HP:0008151	Prolonged prothrombin time
OMIM:300895	MED12	9968	HP:0000957	Cafe-au-lait spot
OMIM:300895	MED12	9968	HP:0000448	Prominent nose
OMIM:300895	MED12	9968	HP:0001263	Global developmental delay
OMIM:300895	MED12	9968	HP:0000343	Long philtrum
OMIM:300895	MED12	9968	HP:0000414	Bulbous nose
OMIM:300895	MED12	9968	HP:0000365	Hearing impairment
OMIM:300895	MED12	9968	HP:0030084	Clinodactyly
OMIM:300895	MED12	9968	HP:0000028	Cryptorchidism
OMIM:300895	MED12	9968	HP:0005280	Depressed nasal bridge
OMIM:300895	MED12	9968	HP:0000319	Smooth philtrum
OMIM:300895	MED12	9968	HP:0001382	Joint hypermobility
OMIM:300895	MED12	9968	HP:0004325	Decreased body weight
OMIM:300895	MED12	9968	HP:0000581	Blepharophimosis
OMIM:300895	MED12	9968	HP:0001249	Intellectual disability
OMIM:300895	MED12	9968	HP:0000046	Scrotal hypoplasia
OMIM:300895	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300895	MED12	9968	HP:0000347	Micrognathia
OMIM:300895	MED12	9968	HP:0000508	Ptosis
OMIM:300895	MED12	9968	HP:0011968	Feeding difficulties
OMIM:300895	MED12	9968	HP:0000233	Thin vermilion border
OMIM:300895	MED12	9968	HP:0000431	Wide nasal bridge
OMIM:300895	MED12	9968	HP:0000280	Coarse facial features
OMIM:300895	MED12	9968	HP:0000160	Narrow mouth
ORPHA:444463	TPP2	7174	HP:0001744	Splenomegaly
ORPHA:444463	TPP2	7174	HP:0001888	Lymphopenia
ORPHA:444463	TPP2	7174	HP:0001973	Autoimmune thrombocytopenia
ORPHA:444463	TPP2	7174	HP:0000403	Recurrent otitis media
ORPHA:444463	TPP2	7174	HP:0001269	Hemiparesis
ORPHA:444463	TPP2	7174	HP:0001297	Stroke
ORPHA:444463	TPP2	7174	HP:0002716	Lymphadenopathy
ORPHA:444463	TPP2	7174	HP:0001890	Autoimmune hemolytic anemia
ORPHA:444463	TPP2	7174	HP:0002725	Systemic lupus erythematosus
ORPHA:444463	TPP2	7174	HP:0011343	Moderate global developmental delay
ORPHA:444463	TPP2	7174	HP:0012115	Hepatitis
ORPHA:444463	TPP2	7174	HP:0011947	Respiratory tract infection
OMIM:208400	AGA	175	HP:0000518	Cataract
OMIM:208400	AGA	175	HP:0002756	Pathologic fracture
OMIM:208400	AGA	175	HP:0000053	Macroorchidism
OMIM:208400	AGA	175	HP:0002376	Developmental regression
OMIM:208400	AGA	175	HP:0003302	Spondylolisthesis
OMIM:208400	AGA	175	HP:0002240	Hepatomegaly
OMIM:208400	AGA	175	HP:0002059	Cerebral atrophy
OMIM:208400	AGA	175	HP:0004322	Short stature
OMIM:208400	AGA	175	HP:0002808	Kyphosis
OMIM:208400	AGA	175	HP:0003304	Spondylolysis
OMIM:208400	AGA	175	HP:0001875	Neutropenia
OMIM:208400	AGA	175	HP:0001290	Generalized hypotonia
OMIM:208400	AGA	175	HP:0000283	Broad face
OMIM:208400	AGA	175	HP:0001257	Spasticity
OMIM:208400	AGA	175	HP:0000158	Macroglossia
OMIM:208400	AGA	175	HP:0001250	Seizures
OMIM:208400	AGA	175	HP:0000280	Coarse facial features
OMIM:208400	AGA	175	HP:0001388	Joint laxity
OMIM:208400	AGA	175	HP:0002205	Recurrent respiratory infections
OMIM:208400	AGA	175	HP:0001609	Hoarse voice
OMIM:208400	AGA	175	HP:0002014	Diarrhea
OMIM:208400	AGA	175	HP:0001922	Vacuolated lymphocytes
OMIM:208400	AGA	175	HP:0000248	Brachycephaly
OMIM:208400	AGA	175	HP:0001061	Acne
OMIM:208400	AGA	175	HP:0001071	Angiokeratoma corporis diffusum
OMIM:208400	AGA	175	HP:0000007	Autosomal recessive inheritance
OMIM:208400	AGA	175	HP:0004568	Beaking of vertebral bodies
OMIM:208400	AGA	175	HP:0012068	Aspartylglucosaminuria
OMIM:208400	AGA	175	HP:0100790	Hernia
OMIM:208400	AGA	175	HP:0001653	Mitral regurgitation
OMIM:208400	AGA	175	HP:0002750	Delayed skeletal maturation
OMIM:208400	AGA	175	HP:0000154	Wide mouth
OMIM:208400	AGA	175	HP:0000252	Microcephaly
OMIM:208400	AGA	175	HP:0000750	Delayed speech and language development
OMIM:208400	AGA	175	HP:0000943	Dysostosis multiplex
OMIM:208400	AGA	175	HP:0002738	Hypoplastic frontal sinuses
OMIM:208400	AGA	175	HP:0005280	Depressed nasal bridge
OMIM:208400	AGA	175	HP:0002684	Thickened calvaria
OMIM:208400	AGA	175	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:208400	AGA	175	HP:0000179	Thick lower lip vermilion
OMIM:208400	AGA	175	HP:0000463	Anteverted nares
OMIM:208400	AGA	175	HP:0000926	Platyspondyly
OMIM:208400	AGA	175	HP:0001249	Intellectual disability
OMIM:208400	AGA	175	HP:0002650	Scoliosis
OMIM:309120	TEX11	56159	HP:0001419	X-linked recessive inheritance
OMIM:309120	TEX11	56159	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309120	TEX11	56159	HP:0003251	Male infertility
OMIM:309120	TEX11	56159	HP:0000027	Azoospermia
ORPHA:101028	TALDO1	6888	HP:0001433	Hepatosplenomegaly
ORPHA:101028	TALDO1	6888	HP:0001394	Cirrhosis
ORPHA:101028	TALDO1	6888	HP:0001999	Abnormal facial shape
ORPHA:101028	TALDO1	6888	HP:0001009	Telangiectasia
ORPHA:101028	TALDO1	6888	HP:0001903	Anemia
ORPHA:101028	TALDO1	6888	HP:0010903	Abnormality of glutamine metabolism
ORPHA:101028	TALDO1	6888	HP:0001873	Thrombocytopenia
ORPHA:101028	TALDO1	6888	HP:0012202	Increased serum bile acid concentration
ORPHA:101028	TALDO1	6888	HP:0000056	Abnormality of the clitoris
ORPHA:101028	TALDO1	6888	HP:0000077	Abnormality of the kidney
ORPHA:101028	TALDO1	6888	HP:0001789	Hydrops fetalis
ORPHA:101028	TALDO1	6888	HP:0100678	Premature skin wrinkling
OMIM:183090	ATXN2	6311	HP:0000641	Dysmetric saccades
OMIM:183090	ATXN2	6311	HP:0002015	Dysphagia
OMIM:183090	ATXN2	6311	HP:0002075	Dysdiadochokinesis
OMIM:183090	ATXN2	6311	HP:0000510	Rod-cone dystrophy
OMIM:183090	ATXN2	6311	HP:0002174	Postural tremor
OMIM:183090	ATXN2	6311	HP:0000602	Ophthalmoplegia
OMIM:183090	ATXN2	6311	HP:0001265	Hyporeflexia
OMIM:183090	ATXN2	6311	HP:0002067	Bradykinesia
OMIM:183090	ATXN2	6311	HP:0001260	Dysarthria
OMIM:183090	ATXN2	6311	HP:0002070	Limb ataxia
OMIM:183090	ATXN2	6311	HP:0002073	Progressive cerebellar ataxia
OMIM:183090	ATXN2	6311	HP:0002172	Postural instability
OMIM:183090	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:183090	ATXN2	6311	HP:0002495	Impaired vibratory sensation
OMIM:183090	ATXN2	6311	HP:0002198	Dilated fourth ventricle
OMIM:183090	ATXN2	6311	HP:0002063	Rigidity
OMIM:183090	ATXN2	6311	HP:0001151	Impaired horizontal smooth pursuit
OMIM:183090	ATXN2	6311	HP:0001290	Generalized hypotonia
OMIM:183090	ATXN2	6311	HP:0001336	Myoclonus
OMIM:183090	ATXN2	6311	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:183090	ATXN2	6311	HP:0000514	Slow saccadic eye movements
OMIM:183090	ATXN2	6311	HP:0001310	Dysmetria
OMIM:183090	ATXN2	6311	HP:0002380	Fasciculations
OMIM:183090	ATXN2	6311	HP:0002542	Olivopontocerebellar atrophy
OMIM:183090	ATXN2	6311	HP:0000657	Oculomotor apraxia
OMIM:183090	ATXN2	6311	HP:0003743	Genetic anticipation
OMIM:183090	ATXN2	6311	HP:0000640	Gaze-evoked nystagmus
OMIM:183090	ATXN2	6311	HP:0000726	Dementia
OMIM:183090	ATXN2	6311	HP:0003693	Distal amyotrophy
OMIM:183090	ATXN2	6311	HP:0001257	Spasticity
OMIM:183090	ATXN2	6311	HP:0002503	Spinocerebellar tract degeneration
OMIM:613453	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SERPINB6	5269	HP:0001730	Progressive hearing impairment
ORPHA:85173	CDKN1C	1028	HP:0000047	Hypospadias
ORPHA:85173	CDKN1C	1028	HP:0000135	Hypogonadism
ORPHA:85173	CDKN1C	1028	HP:0001511	Intrauterine growth retardation
ORPHA:85173	CDKN1C	1028	HP:0000835	Adrenal hypoplasia
ORPHA:85173	CDKN1C	1028	HP:0100255	Metaphyseal dysplasia
ORPHA:85173	CDKN1C	1028	HP:0000028	Cryptorchidism
ORPHA:85173	CDKN1C	1028	HP:0002007	Frontal bossing
ORPHA:85173	CDKN1C	1028	HP:0002983	Micromelia
ORPHA:85173	CDKN1C	1028	HP:0005280	Depressed nasal bridge
ORPHA:85173	CDKN1C	1028	HP:0000126	Hydronephrosis
ORPHA:85173	CDKN1C	1028	HP:0000369	Low-set ears
ORPHA:85173	CDKN1C	1028	HP:0001252	Muscular hypotonia
ORPHA:2510	RAB3GAP1	22930	HP:0000518	Cataract
ORPHA:2510	RAB3GAP1	22930	HP:0001511	Intrauterine growth retardation
ORPHA:2510	RAB3GAP1	22930	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2510	RAB3GAP1	22930	HP:0001263	Global developmental delay
ORPHA:2510	RAB3GAP1	22930	HP:0002650	Scoliosis
ORPHA:2510	RAB3GAP1	22930	HP:0000218	High palate
ORPHA:2510	RAB3GAP1	22930	HP:0000060	Clitoral hypoplasia
ORPHA:2510	RAB3GAP1	22930	HP:0000064	Hypoplastic labia minora
ORPHA:2510	RAB3GAP1	22930	HP:0000482	Microcornea
ORPHA:2510	RAB3GAP1	22930	HP:0000648	Optic atrophy
ORPHA:2510	RAB3GAP1	22930	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2510	RAB3GAP1	22930	HP:0000823	Delayed puberty
ORPHA:2510	RAB3GAP1	22930	HP:0001257	Spasticity
ORPHA:2510	RAB3GAP1	22930	HP:0002120	Cerebral cortical atrophy
ORPHA:2510	RAB3GAP1	22930	HP:0000028	Cryptorchidism
ORPHA:2510	RAB3GAP1	22930	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2510	RAB3GAP1	22930	HP:0000568	Microphthalmia
ORPHA:2510	RAB3GAP1	22930	HP:0000649	Abnormality of visual evoked potentials
ORPHA:2510	RAB3GAP1	22930	HP:0001339	Lissencephaly
ORPHA:2510	RAB3GAP1	22930	HP:0004322	Short stature
ORPHA:2510	RAB3GAP1	22930	HP:0000322	Short philtrum
ORPHA:2510	RAB3GAP1	22930	HP:0000347	Micrognathia
ORPHA:2510	RAB3GAP1	22930	HP:0010864	Intellectual disability, severe
ORPHA:2510	RAB3GAP1	22930	HP:0008736	Hypoplasia of penis
ORPHA:2510	RAB3GAP1	22930	HP:0002230	Generalized hirsutism
ORPHA:2510	RAB3GAP1	22930	HP:0100704	Cortical visual impairment
ORPHA:2510	RAB3GAP1	22930	HP:0000463	Anteverted nares
ORPHA:2510	RAB3GAP1	22930	HP:0001252	Muscular hypotonia
ORPHA:2510	RAB3GAP1	22930	HP:0001387	Joint stiffness
ORPHA:2510	RAB3GAP1	22930	HP:0000400	Macrotia
ORPHA:2510	RAB3GAP1	22930	HP:0000252	Microcephaly
ORPHA:2510	RAB3GAP1	22930	HP:0001302	Pachygyria
ORPHA:2510	RAB3GAP1	22930	HP:0002808	Kyphosis
ORPHA:2510	RAB3GAP1	22930	HP:0000431	Wide nasal bridge
ORPHA:2510	RAB3GAP1	22930	HP:0003196	Short nose
ORPHA:2510	RAB18	22931	HP:0000518	Cataract
ORPHA:2510	RAB18	22931	HP:0001511	Intrauterine growth retardation
ORPHA:2510	RAB18	22931	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2510	RAB18	22931	HP:0001263	Global developmental delay
ORPHA:2510	RAB18	22931	HP:0002650	Scoliosis
ORPHA:2510	RAB18	22931	HP:0000218	High palate
ORPHA:2510	RAB18	22931	HP:0000060	Clitoral hypoplasia
ORPHA:2510	RAB18	22931	HP:0000064	Hypoplastic labia minora
ORPHA:2510	RAB18	22931	HP:0000482	Microcornea
ORPHA:2510	RAB18	22931	HP:0000648	Optic atrophy
ORPHA:2510	RAB18	22931	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2510	RAB18	22931	HP:0000823	Delayed puberty
ORPHA:2510	RAB18	22931	HP:0001257	Spasticity
ORPHA:2510	RAB18	22931	HP:0002120	Cerebral cortical atrophy
ORPHA:2510	RAB18	22931	HP:0000028	Cryptorchidism
ORPHA:2510	RAB18	22931	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2510	RAB18	22931	HP:0000568	Microphthalmia
ORPHA:2510	RAB18	22931	HP:0000649	Abnormality of visual evoked potentials
ORPHA:2510	RAB18	22931	HP:0001339	Lissencephaly
ORPHA:2510	RAB18	22931	HP:0004322	Short stature
ORPHA:2510	RAB18	22931	HP:0000322	Short philtrum
ORPHA:2510	RAB18	22931	HP:0000347	Micrognathia
ORPHA:2510	RAB18	22931	HP:0010864	Intellectual disability, severe
ORPHA:2510	RAB18	22931	HP:0008736	Hypoplasia of penis
ORPHA:2510	RAB18	22931	HP:0002230	Generalized hirsutism
ORPHA:2510	RAB18	22931	HP:0100704	Cortical visual impairment
ORPHA:2510	RAB18	22931	HP:0000463	Anteverted nares
ORPHA:2510	RAB18	22931	HP:0001252	Muscular hypotonia
ORPHA:2510	RAB18	22931	HP:0001387	Joint stiffness
ORPHA:2510	RAB18	22931	HP:0000400	Macrotia
ORPHA:2510	RAB18	22931	HP:0000252	Microcephaly
ORPHA:2510	RAB18	22931	HP:0001302	Pachygyria
ORPHA:2510	RAB18	22931	HP:0002808	Kyphosis
ORPHA:2510	RAB18	22931	HP:0000431	Wide nasal bridge
ORPHA:2510	RAB18	22931	HP:0003196	Short nose
ORPHA:2510	RAB3GAP2	25782	HP:0000518	Cataract
ORPHA:2510	RAB3GAP2	25782	HP:0001511	Intrauterine growth retardation
ORPHA:2510	RAB3GAP2	25782	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2510	RAB3GAP2	25782	HP:0001263	Global developmental delay
ORPHA:2510	RAB3GAP2	25782	HP:0002650	Scoliosis
ORPHA:2510	RAB3GAP2	25782	HP:0000218	High palate
ORPHA:2510	RAB3GAP2	25782	HP:0000060	Clitoral hypoplasia
ORPHA:2510	RAB3GAP2	25782	HP:0000064	Hypoplastic labia minora
ORPHA:2510	RAB3GAP2	25782	HP:0000482	Microcornea
ORPHA:2510	RAB3GAP2	25782	HP:0000648	Optic atrophy
ORPHA:2510	RAB3GAP2	25782	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2510	RAB3GAP2	25782	HP:0000823	Delayed puberty
ORPHA:2510	RAB3GAP2	25782	HP:0001257	Spasticity
ORPHA:2510	RAB3GAP2	25782	HP:0002120	Cerebral cortical atrophy
ORPHA:2510	RAB3GAP2	25782	HP:0000028	Cryptorchidism
ORPHA:2510	RAB3GAP2	25782	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2510	RAB3GAP2	25782	HP:0000568	Microphthalmia
ORPHA:2510	RAB3GAP2	25782	HP:0000649	Abnormality of visual evoked potentials
ORPHA:2510	RAB3GAP2	25782	HP:0001339	Lissencephaly
ORPHA:2510	RAB3GAP2	25782	HP:0004322	Short stature
ORPHA:2510	RAB3GAP2	25782	HP:0000322	Short philtrum
ORPHA:2510	RAB3GAP2	25782	HP:0000347	Micrognathia
ORPHA:2510	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
ORPHA:2510	RAB3GAP2	25782	HP:0008736	Hypoplasia of penis
ORPHA:2510	RAB3GAP2	25782	HP:0002230	Generalized hirsutism
ORPHA:2510	RAB3GAP2	25782	HP:0100704	Cortical visual impairment
ORPHA:2510	RAB3GAP2	25782	HP:0000463	Anteverted nares
ORPHA:2510	RAB3GAP2	25782	HP:0001252	Muscular hypotonia
ORPHA:2510	RAB3GAP2	25782	HP:0001387	Joint stiffness
ORPHA:2510	RAB3GAP2	25782	HP:0000400	Macrotia
ORPHA:2510	RAB3GAP2	25782	HP:0000252	Microcephaly
ORPHA:2510	RAB3GAP2	25782	HP:0001302	Pachygyria
ORPHA:2510	RAB3GAP2	25782	HP:0002808	Kyphosis
ORPHA:2510	RAB3GAP2	25782	HP:0000431	Wide nasal bridge
ORPHA:2510	RAB3GAP2	25782	HP:0003196	Short nose
ORPHA:2510	TBC1D20	128637	HP:0000518	Cataract
ORPHA:2510	TBC1D20	128637	HP:0001511	Intrauterine growth retardation
ORPHA:2510	TBC1D20	128637	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2510	TBC1D20	128637	HP:0001263	Global developmental delay
ORPHA:2510	TBC1D20	128637	HP:0002650	Scoliosis
ORPHA:2510	TBC1D20	128637	HP:0000218	High palate
ORPHA:2510	TBC1D20	128637	HP:0000060	Clitoral hypoplasia
ORPHA:2510	TBC1D20	128637	HP:0000064	Hypoplastic labia minora
ORPHA:2510	TBC1D20	128637	HP:0000482	Microcornea
ORPHA:2510	TBC1D20	128637	HP:0000648	Optic atrophy
ORPHA:2510	TBC1D20	128637	HP:0007703	Abnormality of retinal pigmentation
ORPHA:2510	TBC1D20	128637	HP:0000823	Delayed puberty
ORPHA:2510	TBC1D20	128637	HP:0001257	Spasticity
ORPHA:2510	TBC1D20	128637	HP:0002120	Cerebral cortical atrophy
ORPHA:2510	TBC1D20	128637	HP:0000028	Cryptorchidism
ORPHA:2510	TBC1D20	128637	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:2510	TBC1D20	128637	HP:0000568	Microphthalmia
ORPHA:2510	TBC1D20	128637	HP:0000649	Abnormality of visual evoked potentials
ORPHA:2510	TBC1D20	128637	HP:0001339	Lissencephaly
ORPHA:2510	TBC1D20	128637	HP:0004322	Short stature
ORPHA:2510	TBC1D20	128637	HP:0000322	Short philtrum
ORPHA:2510	TBC1D20	128637	HP:0000347	Micrognathia
ORPHA:2510	TBC1D20	128637	HP:0010864	Intellectual disability, severe
ORPHA:2510	TBC1D20	128637	HP:0008736	Hypoplasia of penis
ORPHA:2510	TBC1D20	128637	HP:0002230	Generalized hirsutism
ORPHA:2510	TBC1D20	128637	HP:0100704	Cortical visual impairment
ORPHA:2510	TBC1D20	128637	HP:0000463	Anteverted nares
ORPHA:2510	TBC1D20	128637	HP:0001252	Muscular hypotonia
ORPHA:2510	TBC1D20	128637	HP:0001387	Joint stiffness
ORPHA:2510	TBC1D20	128637	HP:0000400	Macrotia
ORPHA:2510	TBC1D20	128637	HP:0000252	Microcephaly
ORPHA:2510	TBC1D20	128637	HP:0001302	Pachygyria
ORPHA:2510	TBC1D20	128637	HP:0002808	Kyphosis
ORPHA:2510	TBC1D20	128637	HP:0000431	Wide nasal bridge
ORPHA:2510	TBC1D20	128637	HP:0003196	Short nose
OMIM:300946	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:300946	TSR2	90121	HP:0011800	Midface retrusion
OMIM:300946	TSR2	90121	HP:0000494	Downslanted palpebral fissures
OMIM:300946	TSR2	90121	HP:0000405	Conductive hearing impairment
OMIM:300946	TSR2	90121	HP:0008551	Microtia
OMIM:300946	TSR2	90121	HP:0001419	X-linked recessive inheritance
OMIM:300946	TSR2	90121	HP:0000347	Micrognathia
OMIM:615604	FTL	2512	HP:0000007	Autosomal recessive inheritance
OMIM:615604	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:600969	COL9A3	1299	HP:0003502	Mild short stature
OMIM:600969	COL9A3	1299	HP:0002758	Osteoarthritis
OMIM:600969	COL9A3	1299	HP:0010585	Small epiphyses
OMIM:600969	COL9A3	1299	HP:0003701	Proximal muscle weakness
OMIM:600969	COL9A3	1299	HP:0010582	Irregular epiphyses
OMIM:600969	COL9A3	1299	HP:0002663	Delayed epiphyseal ossification
OMIM:600969	COL9A3	1299	HP:0001384	Abnormality of the hip joint
OMIM:600969	COL9A3	1299	HP:0002656	Epiphyseal dysplasia
OMIM:600969	COL9A3	1299	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:600969	COL9A3	1299	HP:0000006	Autosomal dominant inheritance
OMIM:600969	COL9A3	1299	HP:0001425	Heterogeneous
OMIM:600969	COL9A3	1299	HP:0010049	Short metacarpal
OMIM:176100	UROD	7389	HP:0000006	Autosomal dominant inheritance
OMIM:176100	UROD	7389	HP:0001394	Cirrhosis
OMIM:176100	UROD	7389	HP:0001596	Alopecia
OMIM:176100	UROD	7389	HP:0001030	Fragile skin
OMIM:176100	UROD	7389	HP:0000992	Cutaneous photosensitivity
OMIM:176100	UROD	7389	HP:0002219	Facial hypertrichosis
OMIM:176100	UROD	7389	HP:0001806	Onycholysis
OMIM:176100	UROD	7389	HP:0005586	Hyperpigmentation in sun-exposed areas
OMIM:176100	UROD	7389	HP:0100324	Scleroderma
OMIM:176100	UROD	7389	HP:0001402	Hepatocellular carcinoma
OMIM:615282	KIF5C	3800	HP:0001263	Global developmental delay
OMIM:615282	KIF5C	3800	HP:0001344	Absent speech
OMIM:615282	KIF5C	3800	HP:0001250	Seizures
OMIM:615282	KIF5C	3800	HP:0001989	Fetal akinesia sequence
OMIM:615282	KIF5C	3800	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615282	KIF5C	3800	HP:0000252	Microcephaly
OMIM:615282	KIF5C	3800	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615282	KIF5C	3800	HP:0000006	Autosomal dominant inheritance
OMIM:615282	KIF5C	3800	HP:0002126	Polymicrogyria
OMIM:615282	KIF5C	3800	HP:0002539	Cortical dysplasia
OMIM:615282	KIF5C	3800	HP:0003577	Congenital onset
OMIM:615282	KIF5C	3800	HP:0002510	Spastic tetraplegia
OMIM:615282	KIF5C	3800	HP:0001511	Intrauterine growth retardation
OMIM:615282	KIF5C	3800	HP:0003828	Variable expressivity
OMIM:608089	PTEN	5728	HP:0012114	Endometrial carcinoma
OMIM:608089	MSH3	4437	HP:0012114	Endometrial carcinoma
OMIM:608089	CDH1	999	HP:0012114	Endometrial carcinoma
OMIM:608089	MSH6	2956	HP:0012114	Endometrial carcinoma
OMIM:614074	HPS5	11234	HP:0001873	Thrombocytopenia
OMIM:614074	HPS5	11234	HP:0000007	Autosomal recessive inheritance
OMIM:614074	HPS5	11234	HP:0001022	Albinism
OMIM:614074	HPS5	11234	HP:0000978	Bruising susceptibility
OMIM:614074	HPS5	11234	HP:0001107	Ocular albinism
OMIM:614201	GP6	51206	HP:0000007	Autosomal recessive inheritance
OMIM:614201	GP6	51206	HP:0000421	Epistaxis
OMIM:614201	GP6	51206	HP:0003593	Infantile onset
OMIM:614201	GP6	51206	HP:0003010	Prolonged bleeding time
OMIM:614201	GP6	51206	HP:0000978	Bruising susceptibility
OMIM:614201	GP6	51206	HP:0000132	Menorrhagia
OMIM:614201	GP6	51206	HP:0003828	Variable expressivity
OMIM:300243	SLC9A6	10479	HP:0006794	Loss of ability to walk in first decade
OMIM:300243	SLC9A6	10479	HP:0002607	Bowel incontinence
OMIM:300243	SLC9A6	10479	HP:0000252	Microcephaly
OMIM:300243	SLC9A6	10479	HP:0000275	Narrow face
OMIM:300243	SLC9A6	10479	HP:0002078	Truncal ataxia
OMIM:300243	SLC9A6	10479	HP:0007207	Photosensitive tonic-clonic seizures
OMIM:300243	SLC9A6	10479	HP:0000602	Ophthalmoplegia
OMIM:300243	SLC9A6	10479	HP:0003189	Long nose
OMIM:300243	SLC9A6	10479	HP:0000303	Mandibular prognathia
OMIM:300243	SLC9A6	10479	HP:0002487	Hyperkinesis
OMIM:300243	SLC9A6	10479	HP:0001760	Abnormality of the foot
OMIM:300243	SLC9A6	10479	HP:0000774	Narrow chest
OMIM:300243	SLC9A6	10479	HP:0000276	Long face
OMIM:300243	SLC9A6	10479	HP:0001181	Adducted thumb
OMIM:300243	SLC9A6	10479	HP:0000020	Urinary incontinence
OMIM:300243	SLC9A6	10479	HP:0002529	Neuronal loss in central nervous system
OMIM:300243	SLC9A6	10479	HP:0006887	Intellectual disability, progressive
OMIM:300243	SLC9A6	10479	HP:0003202	Skeletal muscle atrophy
OMIM:300243	SLC9A6	10479	HP:0001238	Slender finger
OMIM:300243	SLC9A6	10479	HP:0002307	Drooling
OMIM:300243	SLC9A6	10479	HP:0001344	Absent speech
OMIM:300243	SLC9A6	10479	HP:0002300	Mutism
OMIM:300243	SLC9A6	10479	HP:0002360	Sleep disturbance
OMIM:300243	SLC9A6	10479	HP:0040082	Happy demeanor
OMIM:300243	SLC9A6	10479	HP:0000194	Open mouth
OMIM:300243	SLC9A6	10479	HP:0000574	Thick eyebrow
OMIM:300243	SLC9A6	10479	HP:0001290	Generalized hypotonia
OMIM:300243	SLC9A6	10479	HP:0001423	X-linked dominant inheritance
OMIM:300243	SLC9A6	10479	HP:0001263	Global developmental delay
OMIM:300243	SLC9A6	10479	HP:0010864	Intellectual disability, severe
OMIM:300243	SLC9A6	10479	HP:0000400	Macrotia
OMIM:300243	SLC9A6	10479	HP:0001371	Flexion contracture
OMIM:300243	SLC9A6	10479	HP:0004325	Decreased body weight
OMIM:300243	SLC9A6	10479	HP:0001272	Cerebellar atrophy
OMIM:300243	SLC9A6	10479	HP:0000486	Strabismus
OMIM:300243	SLC9A6	10479	HP:0002015	Dysphagia
OMIM:617066	TRIP4	9325	HP:0006829	Severe muscular hypotonia
OMIM:617066	TRIP4	9325	HP:0000007	Autosomal recessive inheritance
OMIM:617066	TRIP4	9325	HP:0000467	Neck muscle weakness
OMIM:617066	TRIP4	9325	HP:0002650	Scoliosis
OMIM:617066	TRIP4	9325	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:617066	TRIP4	9325	HP:0000958	Dry skin
OMIM:617066	TRIP4	9325	HP:0003560	Muscular dystrophy
OMIM:617066	TRIP4	9325	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:617066	TRIP4	9325	HP:0007502	Follicular hyperkeratosis
OMIM:617066	TRIP4	9325	HP:0001270	Motor delay
OMIM:617066	TRIP4	9325	HP:0003577	Congenital onset
OMIM:617066	TRIP4	9325	HP:0003306	Spinal rigidity
OMIM:267500	AK2	204	HP:0000777	Abnormality of the thymus
OMIM:267500	AK2	204	HP:0005541	Congenital agranulocytosis
OMIM:267500	AK2	204	HP:0001888	Lymphopenia
OMIM:267500	AK2	204	HP:0005354	Absent cellular immunity
OMIM:267500	AK2	204	HP:0000007	Autosomal recessive inheritance
OMIM:613086	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:613086	LTBP2	4053	HP:0000613	Photophobia
OMIM:613086	LTBP2	4053	HP:0008007	Primary congenital glaucoma
OMIM:613086	LTBP2	4053	HP:0007957	Corneal opacity
OMIM:127400	ADAR	103	HP:0003593	Infantile onset
OMIM:127400	ADAR	103	HP:0007441	Hyperpigmented/hypopigmented macules
OMIM:127400	ADAR	103	HP:0000006	Autosomal dominant inheritance
OMIM:612290	HOXA2	3199	HP:0008551	Microtia
OMIM:612290	HOXA2	3199	HP:0000410	Mixed hearing impairment
OMIM:612290	HOXA2	3199	HP:0000006	Autosomal dominant inheritance
OMIM:612290	HOXA2	3199	HP:0000007	Autosomal recessive inheritance
OMIM:612290	HOXA2	3199	HP:0000175	Cleft palate
OMIM:612015	RFT1	91869	HP:0001508	Failure to thrive
OMIM:612015	RFT1	91869	HP:0000007	Autosomal recessive inheritance
OMIM:612015	RFT1	91869	HP:0001181	Adducted thumb
OMIM:612015	RFT1	91869	HP:0001250	Seizures
OMIM:612015	RFT1	91869	HP:0001290	Generalized hypotonia
OMIM:612015	RFT1	91869	HP:0008081	Pes valgus
OMIM:612015	RFT1	91869	HP:0001347	Hyperreflexia
OMIM:612015	RFT1	91869	HP:0001252	Muscular hypotonia
OMIM:612015	RFT1	91869	HP:0003256	Abnormality of the coagulation cascade
OMIM:612015	RFT1	91869	HP:0001336	Myoclonus
OMIM:612015	RFT1	91869	HP:0010864	Intellectual disability, severe
OMIM:612015	RFT1	91869	HP:0000347	Micrognathia
OMIM:612015	RFT1	91869	HP:0003160	Abnormal isoelectric focusing of serum transferrin
OMIM:612015	RFT1	91869	HP:0000252	Microcephaly
OMIM:612015	RFT1	91869	HP:0004322	Short stature
OMIM:612015	RFT1	91869	HP:0007663	Reduced visual acuity
OMIM:612015	RFT1	91869	HP:0002093	Respiratory insufficiency
OMIM:612015	RFT1	91869	HP:0011968	Feeding difficulties
OMIM:612015	RFT1	91869	HP:0001251	Ataxia
OMIM:612015	RFT1	91869	HP:0003593	Infantile onset
OMIM:612015	RFT1	91869	HP:0001257	Spasticity
OMIM:612015	RFT1	91869	HP:0001263	Global developmental delay
OMIM:612015	RFT1	91869	HP:0002240	Hepatomegaly
OMIM:612015	RFT1	91869	HP:0000407	Sensorineural hearing impairment
OMIM:612015	RFT1	91869	HP:0001249	Intellectual disability
OMIM:612015	RFT1	91869	HP:0003186	Inverted nipples
OMIM:612015	RFT1	91869	HP:0000470	Short neck
OMIM:616078	SETBP1	26040	HP:0000316	Hypertelorism
OMIM:616078	SETBP1	26040	HP:0000508	Ptosis
OMIM:616078	SETBP1	26040	HP:0000307	Pointed chin
OMIM:616078	SETBP1	26040	HP:0001270	Motor delay
OMIM:616078	SETBP1	26040	HP:0000678	Dental crowding
OMIM:616078	SETBP1	26040	HP:0001344	Absent speech
OMIM:616078	SETBP1	26040	HP:0000219	Thin upper lip vermilion
OMIM:616078	SETBP1	26040	HP:0001249	Intellectual disability
OMIM:616078	SETBP1	26040	HP:0000248	Brachycephaly
OMIM:616078	SETBP1	26040	HP:0000494	Downslanted palpebral fissures
OMIM:616078	SETBP1	26040	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616078	SETBP1	26040	HP:0000218	High palate
OMIM:616078	SETBP1	26040	HP:0000369	Low-set ears
OMIM:616078	SETBP1	26040	HP:0000189	Narrow palate
OMIM:616078	SETBP1	26040	HP:0000006	Autosomal dominant inheritance
OMIM:616078	SETBP1	26040	HP:0000664	Synophrys
OMIM:616078	SETBP1	26040	HP:0000276	Long face
ORPHA:2380	COL2A1	1280	HP:0002750	Delayed skeletal maturation
ORPHA:2380	COL2A1	1280	HP:0002829	Arthralgia
ORPHA:2380	COL2A1	1280	HP:0004322	Short stature
ORPHA:2380	COL2A1	1280	HP:0001373	Joint dislocation
ORPHA:2380	COL2A1	1280	HP:0010885	Aseptic necrosis
ORPHA:2380	COL2A1	1280	HP:0000164	Abnormality of the dentition
ORPHA:2380	COL2A1	1280	HP:0003202	Skeletal muscle atrophy
ORPHA:2380	COL2A1	1280	HP:0100773	Cartilage destruction
ORPHA:276580	KCNJ11	3767	HP:0001259	Coma
ORPHA:276580	KCNJ11	3767	HP:0002013	Vomiting
ORPHA:276580	KCNJ11	3767	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:276580	KCNJ11	3767	HP:0002240	Hepatomegaly
ORPHA:276580	KCNJ11	3767	HP:0001998	Neonatal hypoglycemia
ORPHA:276580	KCNJ11	3767	HP:0004359	Abnormality of fatty-acid metabolism
ORPHA:276580	KCNJ11	3767	HP:0001985	Hypoketotic hypoglycemia
ORPHA:276580	KCNJ11	3767	HP:0000980	Pallor
ORPHA:276580	KCNJ11	3767	HP:0001649	Tachycardia
ORPHA:276580	KCNJ11	3767	HP:0100503	Vitamin B1 deficiency
ORPHA:276580	KCNJ11	3767	HP:0000252	Microcephaly
ORPHA:276580	KCNJ11	3767	HP:0002014	Diarrhea
ORPHA:276580	KCNJ11	3767	HP:0001254	Lethargy
ORPHA:276580	KCNJ11	3767	HP:0004510	Pancreatic islet-cell hyperplasia
ORPHA:276580	KCNJ11	3767	HP:0000975	Hyperhidrosis
ORPHA:276580	KCNJ11	3767	HP:0002344	Progressive neurologic deterioration
OMIM:612389	TSEN2	80746	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612389	TSEN2	80746	HP:0001321	Cerebellar hypoplasia
OMIM:612389	TSEN2	80746	HP:0002365	Hypoplasia of the brainstem
OMIM:612389	TSEN2	80746	HP:0001250	Seizures
OMIM:612389	TSEN2	80746	HP:0000252	Microcephaly
OMIM:612389	TSEN2	80746	HP:0007308	Extrapyramidal dyskinesia
OMIM:612389	TSEN2	80746	HP:0000340	Sloping forehead
OMIM:612389	TSEN2	80746	HP:0001290	Generalized hypotonia
OMIM:612389	TSEN2	80746	HP:0011968	Feeding difficulties
OMIM:612389	TSEN2	80746	HP:0001332	Dystonia
OMIM:612389	TSEN2	80746	HP:0002072	Chorea
OMIM:612389	TSEN2	80746	HP:0003487	Babinski sign
OMIM:612389	TSEN2	80746	HP:0002509	Limb hypertonia
OMIM:612389	TSEN2	80746	HP:0000253	Progressive microcephaly
OMIM:612389	TSEN2	80746	HP:0000007	Autosomal recessive inheritance
OMIM:612389	TSEN2	80746	HP:0008936	Muscular hypotonia of the trunk
OMIM:612389	TSEN2	80746	HP:0002169	Clonus
OMIM:612389	TSEN2	80746	HP:0002179	Opisthotonus
OMIM:612389	TSEN2	80746	HP:0003577	Congenital onset
OMIM:613693	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:613693	KCNE2	9992	HP:0001279	Syncope
OMIM:613693	KCNE2	9992	HP:0001425	Heterogeneous
OMIM:613693	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:613693	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:615758	LCK	3932	HP:0002721	Immunodeficiency
OMIM:615758	LCK	3932	HP:0002014	Diarrhea
OMIM:615758	LCK	3932	HP:0000007	Autosomal recessive inheritance
OMIM:615758	LCK	3932	HP:0002205	Recurrent respiratory infections
OMIM:615758	LCK	3932	HP:0003593	Infantile onset
OMIM:615758	LCK	3932	HP:0002960	Autoimmunity
OMIM:615758	LCK	3932	HP:0001508	Failure to thrive
OMIM:615758	LCK	3932	HP:0012490	Panniculitis
ORPHA:1454	CC2D2A	57545	HP:0000276	Long face
ORPHA:1454	CC2D2A	57545	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1454	CC2D2A	57545	HP:0000505	Visual impairment
ORPHA:1454	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
ORPHA:1454	CC2D2A	57545	HP:0001347	Hyperreflexia
ORPHA:1454	CC2D2A	57545	HP:0001252	Muscular hypotonia
ORPHA:1454	CC2D2A	57545	HP:0002612	Congenital hepatic fibrosis
ORPHA:1454	CC2D2A	57545	HP:0000588	Optic nerve coloboma
ORPHA:1454	CC2D2A	57545	HP:0001251	Ataxia
ORPHA:1454	CC2D2A	57545	HP:0002240	Hepatomegaly
ORPHA:1454	CC2D2A	57545	HP:0000657	Oculomotor apraxia
ORPHA:1454	CC2D2A	57545	HP:0004422	Biparietal narrowing
ORPHA:1454	CC2D2A	57545	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:1454	CC2D2A	57545	HP:0002910	Elevated hepatic transaminases
ORPHA:1454	CC2D2A	57545	HP:0002342	Intellectual disability, moderate
ORPHA:1454	CC2D2A	57545	HP:0000112	Nephropathy
ORPHA:1454	CC2D2A	57545	HP:0002104	Apnea
ORPHA:1454	CC2D2A	57545	HP:0000612	Iris coloboma
ORPHA:1454	CC2D2A	57545	HP:0008872	Feeding difficulties in infancy
ORPHA:1454	CC2D2A	57545	HP:0005248	Intrahepatic biliary atresia
ORPHA:1454	CC2D2A	57545	HP:0001288	Gait disturbance
ORPHA:1454	CC2D2A	57545	HP:0000639	Nystagmus
ORPHA:1454	TMEM67	91147	HP:0000276	Long face
ORPHA:1454	TMEM67	91147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1454	TMEM67	91147	HP:0000505	Visual impairment
ORPHA:1454	TMEM67	91147	HP:0000567	Chorioretinal coloboma
ORPHA:1454	TMEM67	91147	HP:0001347	Hyperreflexia
ORPHA:1454	TMEM67	91147	HP:0001252	Muscular hypotonia
ORPHA:1454	TMEM67	91147	HP:0002612	Congenital hepatic fibrosis
ORPHA:1454	TMEM67	91147	HP:0000588	Optic nerve coloboma
ORPHA:1454	TMEM67	91147	HP:0001251	Ataxia
ORPHA:1454	TMEM67	91147	HP:0002240	Hepatomegaly
ORPHA:1454	TMEM67	91147	HP:0000657	Oculomotor apraxia
ORPHA:1454	TMEM67	91147	HP:0004422	Biparietal narrowing
ORPHA:1454	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:1454	TMEM67	91147	HP:0002910	Elevated hepatic transaminases
ORPHA:1454	TMEM67	91147	HP:0002342	Intellectual disability, moderate
ORPHA:1454	TMEM67	91147	HP:0000112	Nephropathy
ORPHA:1454	TMEM67	91147	HP:0002104	Apnea
ORPHA:1454	TMEM67	91147	HP:0000612	Iris coloboma
ORPHA:1454	TMEM67	91147	HP:0008872	Feeding difficulties in infancy
ORPHA:1454	TMEM67	91147	HP:0005248	Intrahepatic biliary atresia
ORPHA:1454	TMEM67	91147	HP:0001288	Gait disturbance
ORPHA:1454	TMEM67	91147	HP:0000639	Nystagmus
ORPHA:1454	RPGRIP1L	23322	HP:0000276	Long face
ORPHA:1454	RPGRIP1L	23322	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1454	RPGRIP1L	23322	HP:0000505	Visual impairment
ORPHA:1454	RPGRIP1L	23322	HP:0000567	Chorioretinal coloboma
ORPHA:1454	RPGRIP1L	23322	HP:0001347	Hyperreflexia
ORPHA:1454	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
ORPHA:1454	RPGRIP1L	23322	HP:0002612	Congenital hepatic fibrosis
ORPHA:1454	RPGRIP1L	23322	HP:0000588	Optic nerve coloboma
ORPHA:1454	RPGRIP1L	23322	HP:0001251	Ataxia
ORPHA:1454	RPGRIP1L	23322	HP:0002240	Hepatomegaly
ORPHA:1454	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
ORPHA:1454	RPGRIP1L	23322	HP:0004422	Biparietal narrowing
ORPHA:1454	RPGRIP1L	23322	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:1454	RPGRIP1L	23322	HP:0002910	Elevated hepatic transaminases
ORPHA:1454	RPGRIP1L	23322	HP:0002342	Intellectual disability, moderate
ORPHA:1454	RPGRIP1L	23322	HP:0000112	Nephropathy
ORPHA:1454	RPGRIP1L	23322	HP:0002104	Apnea
ORPHA:1454	RPGRIP1L	23322	HP:0000612	Iris coloboma
ORPHA:1454	RPGRIP1L	23322	HP:0008872	Feeding difficulties in infancy
ORPHA:1454	RPGRIP1L	23322	HP:0005248	Intrahepatic biliary atresia
ORPHA:1454	RPGRIP1L	23322	HP:0001288	Gait disturbance
ORPHA:1454	RPGRIP1L	23322	HP:0000639	Nystagmus
ORPHA:1454	INPP5E	56623	HP:0000276	Long face
ORPHA:1454	INPP5E	56623	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1454	INPP5E	56623	HP:0000505	Visual impairment
ORPHA:1454	INPP5E	56623	HP:0000567	Chorioretinal coloboma
ORPHA:1454	INPP5E	56623	HP:0001347	Hyperreflexia
ORPHA:1454	INPP5E	56623	HP:0001252	Muscular hypotonia
ORPHA:1454	INPP5E	56623	HP:0002612	Congenital hepatic fibrosis
ORPHA:1454	INPP5E	56623	HP:0000588	Optic nerve coloboma
ORPHA:1454	INPP5E	56623	HP:0001251	Ataxia
ORPHA:1454	INPP5E	56623	HP:0002240	Hepatomegaly
ORPHA:1454	INPP5E	56623	HP:0000657	Oculomotor apraxia
ORPHA:1454	INPP5E	56623	HP:0004422	Biparietal narrowing
ORPHA:1454	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:1454	INPP5E	56623	HP:0002910	Elevated hepatic transaminases
ORPHA:1454	INPP5E	56623	HP:0002342	Intellectual disability, moderate
ORPHA:1454	INPP5E	56623	HP:0000112	Nephropathy
ORPHA:1454	INPP5E	56623	HP:0002104	Apnea
ORPHA:1454	INPP5E	56623	HP:0000612	Iris coloboma
ORPHA:1454	INPP5E	56623	HP:0008872	Feeding difficulties in infancy
ORPHA:1454	INPP5E	56623	HP:0005248	Intrahepatic biliary atresia
ORPHA:1454	INPP5E	56623	HP:0001288	Gait disturbance
ORPHA:1454	INPP5E	56623	HP:0000639	Nystagmus
OMIM:614105	ALDH6A1	4329	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614105	ALDH6A1	4329	HP:0003812	Phenotypic variability
OMIM:614105	ALDH6A1	4329	HP:0001263	Global developmental delay
OMIM:614105	ALDH6A1	4329	HP:0000252	Microcephaly
OMIM:614105	ALDH6A1	4329	HP:0003196	Short nose
OMIM:614105	ALDH6A1	4329	HP:0012448	Delayed myelination
OMIM:614105	ALDH6A1	4329	HP:0000414	Bulbous nose
OMIM:614105	ALDH6A1	4329	HP:0001332	Dystonia
OMIM:614105	ALDH6A1	4329	HP:0011968	Feeding difficulties
OMIM:614105	ALDH6A1	4329	HP:0000007	Autosomal recessive inheritance
OMIM:614105	ALDH6A1	4329	HP:0000348	High forehead
OMIM:614105	ALDH6A1	4329	HP:0000218	High palate
OMIM:614105	ALDH6A1	4329	HP:0001999	Abnormal facial shape
OMIM:614105	ALDH6A1	4329	HP:0010804	Tented upper lip vermilion
OMIM:614105	ALDH6A1	4329	HP:0001942	Metabolic acidosis
OMIM:614105	ALDH6A1	4329	HP:0000286	Epicanthus
OMIM:614105	ALDH6A1	4329	HP:0000343	Long philtrum
OMIM:614105	ALDH6A1	4329	HP:0000316	Hypertelorism
OMIM:614105	ALDH6A1	4329	HP:0001252	Muscular hypotonia
OMIM:614105	ALDH6A1	4329	HP:0005280	Depressed nasal bridge
OMIM:614105	ALDH6A1	4329	HP:0000568	Microphthalmia
OMIM:614105	ALDH6A1	4329	HP:0000518	Cataract
OMIM:614105	ALDH6A1	4329	HP:0002007	Frontal bossing
OMIM:614105	ALDH6A1	4329	HP:0000494	Downslanted palpebral fissures
OMIM:614105	ALDH6A1	4329	HP:0001290	Generalized hypotonia
ORPHA:231568	COL7A1	1294	HP:0001075	Atrophic scars
ORPHA:231568	COL7A1	1294	HP:0001053	Hypopigmented skin patches
ORPHA:231568	COL7A1	1294	HP:0008388	Abnormal toenail morphology
ORPHA:231568	COL7A1	1294	HP:0200037	Skin vesicle
ORPHA:231568	COL7A1	1294	HP:0001231	Abnormality of the fingernails
ORPHA:231568	COL7A1	1294	HP:0100825	Cheilitis
ORPHA:231568	COL7A1	1294	HP:0000670	Carious teeth
OMIM:606713	GRHL3	57822	HP:0000006	Autosomal dominant inheritance
OMIM:606713	GRHL3	57822	HP:0000175	Cleft palate
OMIM:606713	GRHL3	57822	HP:0000204	Cleft upper lip
ORPHA:1775	NOP10	55505	HP:0001511	Intrauterine growth retardation
ORPHA:1775	NOP10	55505	HP:0008070	Sparse hair
ORPHA:1775	NOP10	55505	HP:0008661	Urethral stenosis
ORPHA:1775	NOP10	55505	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	NOP10	55505	HP:0000704	Periodontitis
ORPHA:1775	NOP10	55505	HP:0001034	Hypermelanotic macule
ORPHA:1775	NOP10	55505	HP:0200042	Skin ulcer
ORPHA:1775	NOP10	55505	HP:0001231	Abnormality of the fingernails
ORPHA:1775	NOP10	55505	HP:0004322	Short stature
ORPHA:1775	NOP10	55505	HP:0001874	Abnormality of neutrophils
ORPHA:1775	NOP10	55505	HP:0002205	Recurrent respiratory infections
ORPHA:1775	NOP10	55505	HP:0001928	Abnormality of coagulation
ORPHA:1775	NOP10	55505	HP:0000679	Taurodontia
ORPHA:1775	NOP10	55505	HP:0000975	Hyperhidrosis
ORPHA:1775	NOP10	55505	HP:0000668	Hypodontia
ORPHA:1775	NOP10	55505	HP:0100670	Rough bone trabeculation
ORPHA:1775	NOP10	55505	HP:0001873	Thrombocytopenia
ORPHA:1775	NOP10	55505	HP:0002757	Recurrent fractures
ORPHA:1775	NOP10	55505	HP:0002745	Oral leukoplakia
ORPHA:1775	NOP10	55505	HP:0001903	Anemia
ORPHA:1775	NOP10	55505	HP:0010450	Esophageal stenosis
ORPHA:1775	NOP10	55505	HP:0000670	Carious teeth
ORPHA:1775	NOP10	55505	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	NOP10	55505	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	NOP10	55505	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	NOP10	55505	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	NOP10	55505	HP:0002024	Malabsorption
ORPHA:1775	NOP10	55505	HP:0005374	Cellular immunodeficiency
ORPHA:1775	NOP10	55505	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	NOP10	55505	HP:0008404	Nail dystrophy
ORPHA:1775	NOP10	55505	HP:0000600	Abnormality of the pharynx
ORPHA:1775	NOP10	55505	HP:0100585	Telangiectasia of the skin
ORPHA:1775	NOP10	55505	HP:0001053	Hypopigmented skin patches
ORPHA:1775	NOP10	55505	HP:0001263	Global developmental delay
ORPHA:1775	NOP10	55505	HP:0012732	Anorectal anomaly
ORPHA:1775	PARN	5073	HP:0001511	Intrauterine growth retardation
ORPHA:1775	PARN	5073	HP:0008070	Sparse hair
ORPHA:1775	PARN	5073	HP:0008661	Urethral stenosis
ORPHA:1775	PARN	5073	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	PARN	5073	HP:0000704	Periodontitis
ORPHA:1775	PARN	5073	HP:0001034	Hypermelanotic macule
ORPHA:1775	PARN	5073	HP:0200042	Skin ulcer
ORPHA:1775	PARN	5073	HP:0001231	Abnormality of the fingernails
ORPHA:1775	PARN	5073	HP:0004322	Short stature
ORPHA:1775	PARN	5073	HP:0001874	Abnormality of neutrophils
ORPHA:1775	PARN	5073	HP:0002205	Recurrent respiratory infections
ORPHA:1775	PARN	5073	HP:0001928	Abnormality of coagulation
ORPHA:1775	PARN	5073	HP:0000679	Taurodontia
ORPHA:1775	PARN	5073	HP:0000975	Hyperhidrosis
ORPHA:1775	PARN	5073	HP:0000668	Hypodontia
ORPHA:1775	PARN	5073	HP:0100670	Rough bone trabeculation
ORPHA:1775	PARN	5073	HP:0001873	Thrombocytopenia
ORPHA:1775	PARN	5073	HP:0002757	Recurrent fractures
ORPHA:1775	PARN	5073	HP:0002745	Oral leukoplakia
ORPHA:1775	PARN	5073	HP:0001903	Anemia
ORPHA:1775	PARN	5073	HP:0010450	Esophageal stenosis
ORPHA:1775	PARN	5073	HP:0000670	Carious teeth
ORPHA:1775	PARN	5073	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	PARN	5073	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	PARN	5073	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	PARN	5073	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	PARN	5073	HP:0002024	Malabsorption
ORPHA:1775	PARN	5073	HP:0005374	Cellular immunodeficiency
ORPHA:1775	PARN	5073	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	PARN	5073	HP:0008404	Nail dystrophy
ORPHA:1775	PARN	5073	HP:0000600	Abnormality of the pharynx
ORPHA:1775	PARN	5073	HP:0100585	Telangiectasia of the skin
ORPHA:1775	PARN	5073	HP:0001053	Hypopigmented skin patches
ORPHA:1775	PARN	5073	HP:0001263	Global developmental delay
ORPHA:1775	PARN	5073	HP:0012732	Anorectal anomaly
ORPHA:1775	NHP2	55651	HP:0001511	Intrauterine growth retardation
ORPHA:1775	NHP2	55651	HP:0008070	Sparse hair
ORPHA:1775	NHP2	55651	HP:0008661	Urethral stenosis
ORPHA:1775	NHP2	55651	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	NHP2	55651	HP:0000704	Periodontitis
ORPHA:1775	NHP2	55651	HP:0001034	Hypermelanotic macule
ORPHA:1775	NHP2	55651	HP:0200042	Skin ulcer
ORPHA:1775	NHP2	55651	HP:0001231	Abnormality of the fingernails
ORPHA:1775	NHP2	55651	HP:0004322	Short stature
ORPHA:1775	NHP2	55651	HP:0001874	Abnormality of neutrophils
ORPHA:1775	NHP2	55651	HP:0002205	Recurrent respiratory infections
ORPHA:1775	NHP2	55651	HP:0001928	Abnormality of coagulation
ORPHA:1775	NHP2	55651	HP:0000679	Taurodontia
ORPHA:1775	NHP2	55651	HP:0000975	Hyperhidrosis
ORPHA:1775	NHP2	55651	HP:0000668	Hypodontia
ORPHA:1775	NHP2	55651	HP:0100670	Rough bone trabeculation
ORPHA:1775	NHP2	55651	HP:0001873	Thrombocytopenia
ORPHA:1775	NHP2	55651	HP:0002757	Recurrent fractures
ORPHA:1775	NHP2	55651	HP:0002745	Oral leukoplakia
ORPHA:1775	NHP2	55651	HP:0001903	Anemia
ORPHA:1775	NHP2	55651	HP:0010450	Esophageal stenosis
ORPHA:1775	NHP2	55651	HP:0000670	Carious teeth
ORPHA:1775	NHP2	55651	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	NHP2	55651	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	NHP2	55651	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	NHP2	55651	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	NHP2	55651	HP:0002024	Malabsorption
ORPHA:1775	NHP2	55651	HP:0005374	Cellular immunodeficiency
ORPHA:1775	NHP2	55651	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	NHP2	55651	HP:0008404	Nail dystrophy
ORPHA:1775	NHP2	55651	HP:0000600	Abnormality of the pharynx
ORPHA:1775	NHP2	55651	HP:0100585	Telangiectasia of the skin
ORPHA:1775	NHP2	55651	HP:0001053	Hypopigmented skin patches
ORPHA:1775	NHP2	55651	HP:0001263	Global developmental delay
ORPHA:1775	NHP2	55651	HP:0012732	Anorectal anomaly
ORPHA:1775	USB1	79650	HP:0001511	Intrauterine growth retardation
ORPHA:1775	USB1	79650	HP:0008070	Sparse hair
ORPHA:1775	USB1	79650	HP:0008661	Urethral stenosis
ORPHA:1775	USB1	79650	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	USB1	79650	HP:0000704	Periodontitis
ORPHA:1775	USB1	79650	HP:0001034	Hypermelanotic macule
ORPHA:1775	USB1	79650	HP:0200042	Skin ulcer
ORPHA:1775	USB1	79650	HP:0001231	Abnormality of the fingernails
ORPHA:1775	USB1	79650	HP:0004322	Short stature
ORPHA:1775	USB1	79650	HP:0001874	Abnormality of neutrophils
ORPHA:1775	USB1	79650	HP:0002205	Recurrent respiratory infections
ORPHA:1775	USB1	79650	HP:0001928	Abnormality of coagulation
ORPHA:1775	USB1	79650	HP:0000679	Taurodontia
ORPHA:1775	USB1	79650	HP:0000975	Hyperhidrosis
ORPHA:1775	USB1	79650	HP:0000668	Hypodontia
ORPHA:1775	USB1	79650	HP:0100670	Rough bone trabeculation
ORPHA:1775	USB1	79650	HP:0001873	Thrombocytopenia
ORPHA:1775	USB1	79650	HP:0002757	Recurrent fractures
ORPHA:1775	USB1	79650	HP:0002745	Oral leukoplakia
ORPHA:1775	USB1	79650	HP:0001903	Anemia
ORPHA:1775	USB1	79650	HP:0010450	Esophageal stenosis
ORPHA:1775	USB1	79650	HP:0000670	Carious teeth
ORPHA:1775	USB1	79650	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	USB1	79650	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	USB1	79650	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	USB1	79650	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	USB1	79650	HP:0002024	Malabsorption
ORPHA:1775	USB1	79650	HP:0005374	Cellular immunodeficiency
ORPHA:1775	USB1	79650	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	USB1	79650	HP:0008404	Nail dystrophy
ORPHA:1775	USB1	79650	HP:0000600	Abnormality of the pharynx
ORPHA:1775	USB1	79650	HP:0100585	Telangiectasia of the skin
ORPHA:1775	USB1	79650	HP:0001053	Hypopigmented skin patches
ORPHA:1775	USB1	79650	HP:0001263	Global developmental delay
ORPHA:1775	USB1	79650	HP:0012732	Anorectal anomaly
ORPHA:1775	TERC	7012	HP:0001511	Intrauterine growth retardation
ORPHA:1775	TERC	7012	HP:0008070	Sparse hair
ORPHA:1775	TERC	7012	HP:0008661	Urethral stenosis
ORPHA:1775	TERC	7012	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	TERC	7012	HP:0000704	Periodontitis
ORPHA:1775	TERC	7012	HP:0001034	Hypermelanotic macule
ORPHA:1775	TERC	7012	HP:0200042	Skin ulcer
ORPHA:1775	TERC	7012	HP:0001231	Abnormality of the fingernails
ORPHA:1775	TERC	7012	HP:0004322	Short stature
ORPHA:1775	TERC	7012	HP:0001874	Abnormality of neutrophils
ORPHA:1775	TERC	7012	HP:0002205	Recurrent respiratory infections
ORPHA:1775	TERC	7012	HP:0001928	Abnormality of coagulation
ORPHA:1775	TERC	7012	HP:0000679	Taurodontia
ORPHA:1775	TERC	7012	HP:0000975	Hyperhidrosis
ORPHA:1775	TERC	7012	HP:0000668	Hypodontia
ORPHA:1775	TERC	7012	HP:0100670	Rough bone trabeculation
ORPHA:1775	TERC	7012	HP:0001873	Thrombocytopenia
ORPHA:1775	TERC	7012	HP:0002757	Recurrent fractures
ORPHA:1775	TERC	7012	HP:0002745	Oral leukoplakia
ORPHA:1775	TERC	7012	HP:0001903	Anemia
ORPHA:1775	TERC	7012	HP:0010450	Esophageal stenosis
ORPHA:1775	TERC	7012	HP:0000670	Carious teeth
ORPHA:1775	TERC	7012	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	TERC	7012	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	TERC	7012	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	TERC	7012	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	TERC	7012	HP:0002024	Malabsorption
ORPHA:1775	TERC	7012	HP:0005374	Cellular immunodeficiency
ORPHA:1775	TERC	7012	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	TERC	7012	HP:0008404	Nail dystrophy
ORPHA:1775	TERC	7012	HP:0000600	Abnormality of the pharynx
ORPHA:1775	TERC	7012	HP:0100585	Telangiectasia of the skin
ORPHA:1775	TERC	7012	HP:0001053	Hypopigmented skin patches
ORPHA:1775	TERC	7012	HP:0001263	Global developmental delay
ORPHA:1775	TERC	7012	HP:0012732	Anorectal anomaly
ORPHA:1775	TINF2	26277	HP:0001511	Intrauterine growth retardation
ORPHA:1775	TINF2	26277	HP:0008070	Sparse hair
ORPHA:1775	TINF2	26277	HP:0008661	Urethral stenosis
ORPHA:1775	TINF2	26277	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	TINF2	26277	HP:0000704	Periodontitis
ORPHA:1775	TINF2	26277	HP:0001034	Hypermelanotic macule
ORPHA:1775	TINF2	26277	HP:0200042	Skin ulcer
ORPHA:1775	TINF2	26277	HP:0001231	Abnormality of the fingernails
ORPHA:1775	TINF2	26277	HP:0004322	Short stature
ORPHA:1775	TINF2	26277	HP:0001874	Abnormality of neutrophils
ORPHA:1775	TINF2	26277	HP:0002205	Recurrent respiratory infections
ORPHA:1775	TINF2	26277	HP:0001928	Abnormality of coagulation
ORPHA:1775	TINF2	26277	HP:0000679	Taurodontia
ORPHA:1775	TINF2	26277	HP:0000975	Hyperhidrosis
ORPHA:1775	TINF2	26277	HP:0000668	Hypodontia
ORPHA:1775	TINF2	26277	HP:0100670	Rough bone trabeculation
ORPHA:1775	TINF2	26277	HP:0001873	Thrombocytopenia
ORPHA:1775	TINF2	26277	HP:0002757	Recurrent fractures
ORPHA:1775	TINF2	26277	HP:0002745	Oral leukoplakia
ORPHA:1775	TINF2	26277	HP:0001903	Anemia
ORPHA:1775	TINF2	26277	HP:0010450	Esophageal stenosis
ORPHA:1775	TINF2	26277	HP:0000670	Carious teeth
ORPHA:1775	TINF2	26277	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	TINF2	26277	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	TINF2	26277	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	TINF2	26277	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	TINF2	26277	HP:0002024	Malabsorption
ORPHA:1775	TINF2	26277	HP:0005374	Cellular immunodeficiency
ORPHA:1775	TINF2	26277	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	TINF2	26277	HP:0008404	Nail dystrophy
ORPHA:1775	TINF2	26277	HP:0000600	Abnormality of the pharynx
ORPHA:1775	TINF2	26277	HP:0100585	Telangiectasia of the skin
ORPHA:1775	TINF2	26277	HP:0001053	Hypopigmented skin patches
ORPHA:1775	TINF2	26277	HP:0001263	Global developmental delay
ORPHA:1775	TINF2	26277	HP:0012732	Anorectal anomaly
ORPHA:1775	RTEL1	51750	HP:0001511	Intrauterine growth retardation
ORPHA:1775	RTEL1	51750	HP:0008070	Sparse hair
ORPHA:1775	RTEL1	51750	HP:0008661	Urethral stenosis
ORPHA:1775	RTEL1	51750	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	RTEL1	51750	HP:0000704	Periodontitis
ORPHA:1775	RTEL1	51750	HP:0001034	Hypermelanotic macule
ORPHA:1775	RTEL1	51750	HP:0200042	Skin ulcer
ORPHA:1775	RTEL1	51750	HP:0001231	Abnormality of the fingernails
ORPHA:1775	RTEL1	51750	HP:0004322	Short stature
ORPHA:1775	RTEL1	51750	HP:0001874	Abnormality of neutrophils
ORPHA:1775	RTEL1	51750	HP:0002205	Recurrent respiratory infections
ORPHA:1775	RTEL1	51750	HP:0001928	Abnormality of coagulation
ORPHA:1775	RTEL1	51750	HP:0000679	Taurodontia
ORPHA:1775	RTEL1	51750	HP:0000975	Hyperhidrosis
ORPHA:1775	RTEL1	51750	HP:0000668	Hypodontia
ORPHA:1775	RTEL1	51750	HP:0100670	Rough bone trabeculation
ORPHA:1775	RTEL1	51750	HP:0001873	Thrombocytopenia
ORPHA:1775	RTEL1	51750	HP:0002757	Recurrent fractures
ORPHA:1775	RTEL1	51750	HP:0002745	Oral leukoplakia
ORPHA:1775	RTEL1	51750	HP:0001903	Anemia
ORPHA:1775	RTEL1	51750	HP:0010450	Esophageal stenosis
ORPHA:1775	RTEL1	51750	HP:0000670	Carious teeth
ORPHA:1775	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	RTEL1	51750	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	RTEL1	51750	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	RTEL1	51750	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	RTEL1	51750	HP:0002024	Malabsorption
ORPHA:1775	RTEL1	51750	HP:0005374	Cellular immunodeficiency
ORPHA:1775	RTEL1	51750	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	RTEL1	51750	HP:0008404	Nail dystrophy
ORPHA:1775	RTEL1	51750	HP:0000600	Abnormality of the pharynx
ORPHA:1775	RTEL1	51750	HP:0100585	Telangiectasia of the skin
ORPHA:1775	RTEL1	51750	HP:0001053	Hypopigmented skin patches
ORPHA:1775	RTEL1	51750	HP:0001263	Global developmental delay
ORPHA:1775	RTEL1	51750	HP:0012732	Anorectal anomaly
ORPHA:1775	TERT	7015	HP:0001511	Intrauterine growth retardation
ORPHA:1775	TERT	7015	HP:0008070	Sparse hair
ORPHA:1775	TERT	7015	HP:0008661	Urethral stenosis
ORPHA:1775	TERT	7015	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	TERT	7015	HP:0000704	Periodontitis
ORPHA:1775	TERT	7015	HP:0001034	Hypermelanotic macule
ORPHA:1775	TERT	7015	HP:0200042	Skin ulcer
ORPHA:1775	TERT	7015	HP:0001231	Abnormality of the fingernails
ORPHA:1775	TERT	7015	HP:0004322	Short stature
ORPHA:1775	TERT	7015	HP:0001874	Abnormality of neutrophils
ORPHA:1775	TERT	7015	HP:0002205	Recurrent respiratory infections
ORPHA:1775	TERT	7015	HP:0001928	Abnormality of coagulation
ORPHA:1775	TERT	7015	HP:0000679	Taurodontia
ORPHA:1775	TERT	7015	HP:0000975	Hyperhidrosis
ORPHA:1775	TERT	7015	HP:0000668	Hypodontia
ORPHA:1775	TERT	7015	HP:0100670	Rough bone trabeculation
ORPHA:1775	TERT	7015	HP:0001873	Thrombocytopenia
ORPHA:1775	TERT	7015	HP:0002757	Recurrent fractures
ORPHA:1775	TERT	7015	HP:0002745	Oral leukoplakia
ORPHA:1775	TERT	7015	HP:0001903	Anemia
ORPHA:1775	TERT	7015	HP:0010450	Esophageal stenosis
ORPHA:1775	TERT	7015	HP:0000670	Carious teeth
ORPHA:1775	TERT	7015	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	TERT	7015	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	TERT	7015	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	TERT	7015	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	TERT	7015	HP:0002024	Malabsorption
ORPHA:1775	TERT	7015	HP:0005374	Cellular immunodeficiency
ORPHA:1775	TERT	7015	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	TERT	7015	HP:0008404	Nail dystrophy
ORPHA:1775	TERT	7015	HP:0000600	Abnormality of the pharynx
ORPHA:1775	TERT	7015	HP:0100585	Telangiectasia of the skin
ORPHA:1775	TERT	7015	HP:0001053	Hypopigmented skin patches
ORPHA:1775	TERT	7015	HP:0001263	Global developmental delay
ORPHA:1775	TERT	7015	HP:0012732	Anorectal anomaly
ORPHA:1775	DKC1	1736	HP:0001511	Intrauterine growth retardation
ORPHA:1775	DKC1	1736	HP:0008070	Sparse hair
ORPHA:1775	DKC1	1736	HP:0008661	Urethral stenosis
ORPHA:1775	DKC1	1736	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	DKC1	1736	HP:0000704	Periodontitis
ORPHA:1775	DKC1	1736	HP:0001034	Hypermelanotic macule
ORPHA:1775	DKC1	1736	HP:0200042	Skin ulcer
ORPHA:1775	DKC1	1736	HP:0001231	Abnormality of the fingernails
ORPHA:1775	DKC1	1736	HP:0004322	Short stature
ORPHA:1775	DKC1	1736	HP:0001874	Abnormality of neutrophils
ORPHA:1775	DKC1	1736	HP:0002205	Recurrent respiratory infections
ORPHA:1775	DKC1	1736	HP:0001928	Abnormality of coagulation
ORPHA:1775	DKC1	1736	HP:0000679	Taurodontia
ORPHA:1775	DKC1	1736	HP:0000975	Hyperhidrosis
ORPHA:1775	DKC1	1736	HP:0000668	Hypodontia
ORPHA:1775	DKC1	1736	HP:0100670	Rough bone trabeculation
ORPHA:1775	DKC1	1736	HP:0001873	Thrombocytopenia
ORPHA:1775	DKC1	1736	HP:0002757	Recurrent fractures
ORPHA:1775	DKC1	1736	HP:0002745	Oral leukoplakia
ORPHA:1775	DKC1	1736	HP:0001903	Anemia
ORPHA:1775	DKC1	1736	HP:0010450	Esophageal stenosis
ORPHA:1775	DKC1	1736	HP:0000670	Carious teeth
ORPHA:1775	DKC1	1736	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	DKC1	1736	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	DKC1	1736	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	DKC1	1736	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	DKC1	1736	HP:0002024	Malabsorption
ORPHA:1775	DKC1	1736	HP:0005374	Cellular immunodeficiency
ORPHA:1775	DKC1	1736	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	DKC1	1736	HP:0008404	Nail dystrophy
ORPHA:1775	DKC1	1736	HP:0000600	Abnormality of the pharynx
ORPHA:1775	DKC1	1736	HP:0100585	Telangiectasia of the skin
ORPHA:1775	DKC1	1736	HP:0001053	Hypopigmented skin patches
ORPHA:1775	DKC1	1736	HP:0001263	Global developmental delay
ORPHA:1775	DKC1	1736	HP:0012732	Anorectal anomaly
ORPHA:1775	CTC1	80169	HP:0001511	Intrauterine growth retardation
ORPHA:1775	CTC1	80169	HP:0008070	Sparse hair
ORPHA:1775	CTC1	80169	HP:0008661	Urethral stenosis
ORPHA:1775	CTC1	80169	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	CTC1	80169	HP:0000704	Periodontitis
ORPHA:1775	CTC1	80169	HP:0001034	Hypermelanotic macule
ORPHA:1775	CTC1	80169	HP:0200042	Skin ulcer
ORPHA:1775	CTC1	80169	HP:0001231	Abnormality of the fingernails
ORPHA:1775	CTC1	80169	HP:0004322	Short stature
ORPHA:1775	CTC1	80169	HP:0001874	Abnormality of neutrophils
ORPHA:1775	CTC1	80169	HP:0002205	Recurrent respiratory infections
ORPHA:1775	CTC1	80169	HP:0001928	Abnormality of coagulation
ORPHA:1775	CTC1	80169	HP:0000679	Taurodontia
ORPHA:1775	CTC1	80169	HP:0000975	Hyperhidrosis
ORPHA:1775	CTC1	80169	HP:0000668	Hypodontia
ORPHA:1775	CTC1	80169	HP:0100670	Rough bone trabeculation
ORPHA:1775	CTC1	80169	HP:0001873	Thrombocytopenia
ORPHA:1775	CTC1	80169	HP:0002757	Recurrent fractures
ORPHA:1775	CTC1	80169	HP:0002745	Oral leukoplakia
ORPHA:1775	CTC1	80169	HP:0001903	Anemia
ORPHA:1775	CTC1	80169	HP:0010450	Esophageal stenosis
ORPHA:1775	CTC1	80169	HP:0000670	Carious teeth
ORPHA:1775	CTC1	80169	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	CTC1	80169	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	CTC1	80169	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	CTC1	80169	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	CTC1	80169	HP:0002024	Malabsorption
ORPHA:1775	CTC1	80169	HP:0005374	Cellular immunodeficiency
ORPHA:1775	CTC1	80169	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	CTC1	80169	HP:0008404	Nail dystrophy
ORPHA:1775	CTC1	80169	HP:0000600	Abnormality of the pharynx
ORPHA:1775	CTC1	80169	HP:0100585	Telangiectasia of the skin
ORPHA:1775	CTC1	80169	HP:0001053	Hypopigmented skin patches
ORPHA:1775	CTC1	80169	HP:0001263	Global developmental delay
ORPHA:1775	CTC1	80169	HP:0012732	Anorectal anomaly
ORPHA:1775	WRAP53	55135	HP:0001511	Intrauterine growth retardation
ORPHA:1775	WRAP53	55135	HP:0008070	Sparse hair
ORPHA:1775	WRAP53	55135	HP:0008661	Urethral stenosis
ORPHA:1775	WRAP53	55135	HP:0002575	Tracheoesophageal fistula
ORPHA:1775	WRAP53	55135	HP:0000704	Periodontitis
ORPHA:1775	WRAP53	55135	HP:0001034	Hypermelanotic macule
ORPHA:1775	WRAP53	55135	HP:0200042	Skin ulcer
ORPHA:1775	WRAP53	55135	HP:0001231	Abnormality of the fingernails
ORPHA:1775	WRAP53	55135	HP:0004322	Short stature
ORPHA:1775	WRAP53	55135	HP:0001874	Abnormality of neutrophils
ORPHA:1775	WRAP53	55135	HP:0002205	Recurrent respiratory infections
ORPHA:1775	WRAP53	55135	HP:0001928	Abnormality of coagulation
ORPHA:1775	WRAP53	55135	HP:0000679	Taurodontia
ORPHA:1775	WRAP53	55135	HP:0000975	Hyperhidrosis
ORPHA:1775	WRAP53	55135	HP:0000668	Hypodontia
ORPHA:1775	WRAP53	55135	HP:0100670	Rough bone trabeculation
ORPHA:1775	WRAP53	55135	HP:0001873	Thrombocytopenia
ORPHA:1775	WRAP53	55135	HP:0002757	Recurrent fractures
ORPHA:1775	WRAP53	55135	HP:0002745	Oral leukoplakia
ORPHA:1775	WRAP53	55135	HP:0001903	Anemia
ORPHA:1775	WRAP53	55135	HP:0010450	Esophageal stenosis
ORPHA:1775	WRAP53	55135	HP:0000670	Carious teeth
ORPHA:1775	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
ORPHA:1775	WRAP53	55135	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1775	WRAP53	55135	HP:0010624	Aplastic/hypoplastic toenail
ORPHA:1775	WRAP53	55135	HP:0008066	Abnormal blistering of the skin
ORPHA:1775	WRAP53	55135	HP:0002024	Malabsorption
ORPHA:1775	WRAP53	55135	HP:0005374	Cellular immunodeficiency
ORPHA:1775	WRAP53	55135	HP:0000008	Abnormality of female internal genitalia
ORPHA:1775	WRAP53	55135	HP:0008404	Nail dystrophy
ORPHA:1775	WRAP53	55135	HP:0000600	Abnormality of the pharynx
ORPHA:1775	WRAP53	55135	HP:0100585	Telangiectasia of the skin
ORPHA:1775	WRAP53	55135	HP:0001053	Hypopigmented skin patches
ORPHA:1775	WRAP53	55135	HP:0001263	Global developmental delay
ORPHA:1775	WRAP53	55135	HP:0012732	Anorectal anomaly
OMIM:300991	PIH1D3	139212	HP:0002643	Neonatal respiratory distress
OMIM:300991	PIH1D3	139212	HP:0001696	Situs inversus totalis
OMIM:300991	PIH1D3	139212	HP:0000789	Infertility
OMIM:300991	PIH1D3	139212	HP:0011108	Recurrent sinusitis
OMIM:300991	PIH1D3	139212	HP:0002110	Bronchiectasis
OMIM:300991	PIH1D3	139212	HP:0001419	X-linked recessive inheritance
OMIM:616892	NUP93	9688	HP:0001967	Diffuse mesangial sclerosis
OMIM:616892	NUP93	9688	HP:0003676	Progressive
OMIM:616892	NUP93	9688	HP:0000790	Hematuria
OMIM:616892	NUP93	9688	HP:0003774	Stage 5 chronic kidney disease
OMIM:616892	NUP93	9688	HP:0000007	Autosomal recessive inheritance
OMIM:616260	RNF125	54941	HP:0000998	Hypertrichosis
OMIM:616260	RNF125	54941	HP:0000270	Delayed cranial suture closure
OMIM:616260	RNF125	54941	HP:0000445	Wide nose
OMIM:616260	RNF125	54941	HP:0001943	Hypoglycemia
OMIM:616260	RNF125	54941	HP:0000006	Autosomal dominant inheritance
OMIM:616260	RNF125	54941	HP:0000303	Mandibular prognathia
OMIM:616260	RNF125	54941	HP:0100021	Cerebral palsy
OMIM:616260	RNF125	54941	HP:0030880	Raynaud phenomenon
OMIM:616260	RNF125	54941	HP:0000938	Osteopenia
OMIM:616260	RNF125	54941	HP:0001290	Generalized hypotonia
OMIM:616260	RNF125	54941	HP:0000739	Anxiety
OMIM:616260	RNF125	54941	HP:0000750	Delayed speech and language development
OMIM:616260	RNF125	54941	HP:0002003	Large forehead
OMIM:616260	RNF125	54941	HP:0002119	Ventriculomegaly
OMIM:616260	RNF125	54941	HP:0000506	Telecanthus
OMIM:616260	RNF125	54941	HP:0002104	Apnea
OMIM:616260	RNF125	54941	HP:0000238	Hydrocephalus
OMIM:616260	RNF125	54941	HP:0002020	Gastroesophageal reflux
OMIM:616260	RNF125	54941	HP:0002312	Clumsiness
OMIM:616260	RNF125	54941	HP:0040216	Hypoinsulinemia
OMIM:616260	RNF125	54941	HP:0001279	Syncope
OMIM:616260	RNF125	54941	HP:0000158	Macroglossia
OMIM:616260	RNF125	54941	HP:0001097	Keratoconjunctivitis sicca
OMIM:616260	RNF125	54941	HP:0000256	Macrocephaly
OMIM:616260	RNF125	54941	HP:0002090	Pneumonia
OMIM:616260	RNF125	54941	HP:0001250	Seizures
OMIM:616260	RNF125	54941	HP:0000463	Anteverted nares
OMIM:616260	RNF125	54941	HP:0000574	Thick eyebrow
OMIM:616260	RNF125	54941	HP:0001249	Intellectual disability
OMIM:616260	RNF125	54941	HP:0002650	Scoliosis
OMIM:616260	RNF125	54941	HP:0002120	Cerebral cortical atrophy
OMIM:616260	RNF125	54941	HP:0001288	Gait disturbance
ORPHA:178333	CACNA1F	778	HP:0007750	Hypoplasia of the fovea
ORPHA:178333	CACNA1F	778	HP:0007663	Reduced visual acuity
ORPHA:178333	CACNA1F	778	HP:0000512	Abnormal electroretinogram
ORPHA:178333	CACNA1F	778	HP:0007894	Hypopigmentation of the fundus
ORPHA:178333	CACNA1F	778	HP:0030513	Difficulty adjusting from light to dark
ORPHA:178333	CACNA1F	778	HP:0000551	Abnormality of color vision
ORPHA:178333	CACNA1F	778	HP:0000545	Myopia
ORPHA:178333	CACNA1F	778	HP:0000639	Nystagmus
ORPHA:178333	CACNA1F	778	HP:0000483	Astigmatism
OMIM:115150	BRAF	673	HP:0002020	Gastroesophageal reflux
OMIM:115150	BRAF	673	HP:0008872	Feeding difficulties in infancy
OMIM:115150	BRAF	673	HP:0008064	Ichthyosis
OMIM:115150	BRAF	673	HP:0100703	Tongue thrusting
OMIM:115150	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:115150	BRAF	673	HP:0001250	Seizures
OMIM:115150	BRAF	673	HP:0000126	Hydronephrosis
OMIM:115150	BRAF	673	HP:0000639	Nystagmus
OMIM:115150	BRAF	673	HP:0001249	Intellectual disability
OMIM:115150	BRAF	673	HP:0002212	Curly hair
OMIM:115150	BRAF	673	HP:0001744	Splenomegaly
OMIM:115150	BRAF	673	HP:0000463	Anteverted nares
OMIM:115150	BRAF	673	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:115150	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:115150	BRAF	673	HP:0000286	Epicanthus
OMIM:115150	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:115150	BRAF	673	HP:0001093	Optic nerve dysplasia
OMIM:115150	BRAF	673	HP:0004482	Relative macrocephaly
OMIM:115150	BRAF	673	HP:0000561	Absent eyelashes
OMIM:115150	BRAF	673	HP:0002013	Vomiting
OMIM:115150	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:115150	BRAF	673	HP:0010807	Open bite
OMIM:115150	BRAF	673	HP:0008113	Multiple plantar creases
OMIM:115150	BRAF	673	HP:0001276	Hypertonia
OMIM:115150	BRAF	673	HP:0003577	Congenital onset
OMIM:115150	BRAF	673	HP:0003196	Short nose
OMIM:115150	BRAF	673	HP:0000486	Strabismus
OMIM:115150	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115150	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:115150	BRAF	673	HP:0000689	Dental malocclusion
OMIM:115150	BRAF	673	HP:0000768	Pectus carinatum
OMIM:115150	BRAF	673	HP:0002120	Cerebral cortical atrophy
OMIM:115150	BRAF	673	HP:0001508	Failure to thrive
OMIM:115150	BRAF	673	HP:0000238	Hydrocephalus
OMIM:115150	BRAF	673	HP:0009891	Underdeveloped supraorbital ridges
OMIM:115150	BRAF	673	HP:0000341	Narrow forehead
OMIM:115150	BRAF	673	HP:0001047	Atopic dermatitis
OMIM:115150	BRAF	673	HP:0008070	Sparse hair
OMIM:115150	BRAF	673	HP:0000176	Submucous cleft hard palate
OMIM:115150	BRAF	673	HP:0000508	Ptosis
OMIM:115150	BRAF	673	HP:0001003	Multiple lentigines
OMIM:115150	BRAF	673	HP:0000268	Dolichocephaly
OMIM:115150	BRAF	673	HP:0000365	Hearing impairment
OMIM:115150	BRAF	673	HP:0000545	Myopia
OMIM:115150	BRAF	673	HP:0011220	Prominent forehead
OMIM:115150	BRAF	673	HP:0001187	Hyperextensibility of the finger joints
OMIM:115150	BRAF	673	HP:0007333	Hypoplasia of the frontal lobes
OMIM:115150	BRAF	673	HP:0000529	Progressive visual loss
OMIM:115150	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:115150	BRAF	673	HP:0002019	Constipation
OMIM:115150	BRAF	673	HP:0000767	Pectus excavatum
OMIM:115150	BRAF	673	HP:0000347	Micrognathia
OMIM:115150	BRAF	673	HP:0000657	Oculomotor apraxia
OMIM:115150	BRAF	673	HP:0000369	Low-set ears
OMIM:115150	BRAF	673	HP:0000938	Osteopenia
OMIM:115150	BRAF	673	HP:0004322	Short stature
OMIM:115150	BRAF	673	HP:0002002	Deep philtrum
OMIM:115150	BRAF	673	HP:0000280	Coarse facial features
OMIM:115150	BRAF	673	HP:0001631	Atrial septal defect
OMIM:115150	BRAF	673	HP:0006114	Multiple palmar creases
OMIM:115150	BRAF	673	HP:0000218	High palate
OMIM:115150	BRAF	673	HP:0000520	Proptosis
OMIM:115150	BRAF	673	HP:0009908	Anterior creases of earlobe
OMIM:115150	BRAF	673	HP:0002217	Slow-growing hair
OMIM:115150	BRAF	673	HP:0001561	Polyhydramnios
OMIM:115150	BRAF	673	HP:0004209	Clinodactyly of the 5th finger
OMIM:115150	BRAF	673	HP:0001622	Premature birth
OMIM:115150	BRAF	673	HP:0000414	Bulbous nose
OMIM:115150	BRAF	673	HP:0001048	Cavernous hemangioma
OMIM:115150	BRAF	673	HP:0002223	Absent eyebrow
OMIM:115150	BRAF	673	HP:0000194	Open mouth
OMIM:115150	BRAF	673	HP:0000316	Hypertelorism
OMIM:115150	BRAF	673	HP:0001290	Generalized hypotonia
OMIM:115150	BRAF	673	HP:0002750	Delayed skeletal maturation
OMIM:614431	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614431	CITED2	10370	HP:0011682	Perimembranous ventricular septal defect
OMIM:617091	DNAJB13	374407	HP:0000007	Autosomal recessive inheritance
OMIM:105830	UBE3A	7337	HP:0000545	Myopia
OMIM:105830	UBE3A	7337	HP:0001344	Absent speech
OMIM:105830	UBE3A	7337	HP:0005484	Postnatal microcephaly
OMIM:105830	UBE3A	7337	HP:0007240	Progressive gait ataxia
OMIM:105830	UBE3A	7337	HP:0002120	Cerebral cortical atrophy
OMIM:105830	UBE3A	7337	HP:0000154	Wide mouth
OMIM:105830	UBE3A	7337	HP:0000749	Paroxysmal bursts of laughter
OMIM:105830	UBE3A	7337	HP:0002286	Fair hair
OMIM:105830	UBE3A	7337	HP:0002307	Drooling
OMIM:105830	UBE3A	7337	HP:0000687	Widely spaced teeth
OMIM:105830	UBE3A	7337	HP:0000327	Hypoplasia of the maxilla
OMIM:105830	UBE3A	7337	HP:0000752	Hyperactivity
OMIM:105830	UBE3A	7337	HP:0002312	Clumsiness
OMIM:105830	UBE3A	7337	HP:0000639	Nystagmus
OMIM:105830	UBE3A	7337	HP:0002019	Constipation
OMIM:105830	UBE3A	7337	HP:0001263	Global developmental delay
OMIM:105830	UBE3A	7337	HP:0002650	Scoliosis
OMIM:105830	UBE3A	7337	HP:0008872	Feeding difficulties in infancy
OMIM:105830	UBE3A	7337	HP:0010808	Protruding tongue
OMIM:105830	UBE3A	7337	HP:0001347	Hyperreflexia
OMIM:105830	UBE3A	7337	HP:0200085	Limb tremor
OMIM:105830	UBE3A	7337	HP:0001252	Muscular hypotonia
OMIM:105830	UBE3A	7337	HP:0005469	Flat occiput
OMIM:105830	UBE3A	7337	HP:0000006	Autosomal dominant inheritance
OMIM:105830	UBE3A	7337	HP:0000577	Exotropia
OMIM:105830	UBE3A	7337	HP:0000303	Mandibular prognathia
OMIM:105830	UBE3A	7337	HP:0001010	Hypopigmentation of the skin
OMIM:105830	UBE3A	7337	HP:0001250	Seizures
OMIM:105830	UBE3A	7337	HP:0002353	EEG abnormality
OMIM:105830	UBE3A	7337	HP:0000248	Brachycephaly
OMIM:105830	UBE3A	7337	HP:0002136	Broad-based gait
OMIM:105830	UBE3A	7337	HP:0010864	Intellectual disability, severe
OMIM:105830	UBE3A	7337	HP:0000490	Deeply set eye
OMIM:105830	UBE3A	7337	HP:0001513	Obesity
OMIM:105830	UBE3A	7337	HP:0000158	Macroglossia
OMIM:105830	UBE3A	7337	HP:0003745	Sporadic
OMIM:105830	UBE3A	7337	HP:0001290	Generalized hypotonia
OMIM:105830	UBE3A	7337	HP:0006979	Sleep-wake cycle disturbance
OMIM:105830	UBE3A	7337	HP:0000486	Strabismus
OMIM:105830	UBE3A	7337	HP:0001270	Motor delay
OMIM:105830	UBE3A	7337	HP:0006887	Intellectual disability, progressive
OMIM:105830	UBE3A	7337	HP:0000635	Blue irides
OMIM:613172	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613172	RBM20	282996	HP:0001645	Sudden cardiac death
OMIM:613172	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613172	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:155240	NTRK1	4914	HP:0000006	Autosomal dominant inheritance
OMIM:155240	NTRK1	4914	HP:0002865	Medullary thyroid carcinoma
OMIM:155240	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:155240	RET	5979	HP:0002865	Medullary thyroid carcinoma
OMIM:261650	PCK2	5106	HP:0001397	Hepatic steatosis
OMIM:261650	PCK2	5106	HP:0001399	Hepatic failure
OMIM:261650	PCK2	5106	HP:0005959	Impaired gluconeogenesis
OMIM:261650	PCK2	5106	HP:0001943	Hypoglycemia
OMIM:261650	PCK2	5106	HP:0000007	Autosomal recessive inheritance
OMIM:261650	PCK2	5106	HP:0000799	Renal steatosis
ORPHA:90307	RASA1	5921	HP:0001052	Nevus flammeus
ORPHA:90307	RASA1	5921	HP:0100784	Peripheral arteriovenous fistula
ORPHA:90307	RASA1	5921	HP:0100585	Telangiectasia of the skin
ORPHA:90307	RASA1	5921	HP:0010496	Hypertrophy of the lower limb
ORPHA:90307	RASA1	5921	HP:0001892	Abnormal bleeding
ORPHA:90307	RASA1	5921	HP:0010484	Hypertrophy of the upper limb
ORPHA:90307	RASA1	5921	HP:0002619	Varicose veins
OMIM:610069	BMPR1A	657	HP:0005227	Adenomatous colonic polyposis
OMIM:610069	BMPR1A	657	HP:0012183	Hyperplastic colonic polyposis
OMIM:610069	BMPR1A	657	HP:0003003	Colon cancer
OMIM:610069	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:610069	BMPR1A	657	HP:0012198	Juvenile colonic polyposis
OMIM:614380	C4A	720	HP:0004431	Complement deficiency
OMIM:614380	C4A	720	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C4A	720	HP:0000099	Glomerulonephritis
OMIM:614380	C4A	720	HP:0002633	Vasculitis
OMIM:614380	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C4A	720	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C4A	720	HP:0000979	Purpura
ORPHA:2924	PRKCSH	5589	HP:0002240	Hepatomegaly
ORPHA:2924	PRKCSH	5589	HP:0006557	Polycystic liver disease
ORPHA:2924	PRKCSH	5589	HP:0003270	Abdominal distention
ORPHA:2924	PRKCSH	5589	HP:0005562	Multiple renal cysts
ORPHA:2924	LRP5	4041	HP:0002240	Hepatomegaly
ORPHA:2924	LRP5	4041	HP:0006557	Polycystic liver disease
ORPHA:2924	LRP5	4041	HP:0003270	Abdominal distention
ORPHA:2924	LRP5	4041	HP:0005562	Multiple renal cysts
ORPHA:2924	SEC63	11231	HP:0002240	Hepatomegaly
ORPHA:2924	SEC63	11231	HP:0006557	Polycystic liver disease
ORPHA:2924	SEC63	11231	HP:0003270	Abdominal distention
ORPHA:2924	SEC63	11231	HP:0005562	Multiple renal cysts
OMIM:305390	NDP	4693	HP:0007710	Peripheral vitreous opacities
OMIM:305390	NDP	4693	HP:0000541	Retinal detachment
OMIM:305390	NDP	4693	HP:0001419	X-linked recessive inheritance
OMIM:305390	NDP	4693	HP:0011532	Subretinal exudate
OMIM:305390	NDP	4693	HP:0001493	Falciform retinal fold
OMIM:305390	NDP	4693	HP:0007989	Intraretinal exudate
OMIM:305390	NDP	4693	HP:0030490	Exudative vitreoretinopathy
OMIM:305390	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:305390	NDP	4693	HP:0000490	Deeply set eye
OMIM:259440	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:259440	PPIB	5479	HP:0003023	Bowing of limbs due to multiple fractures
OMIM:259440	PPIB	5479	HP:0002650	Scoliosis
OMIM:259440	PPIB	5479	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	PPIB	5479	HP:0000703	Dentinogenesis imperfecta
OMIM:259440	PPIB	5479	HP:0002645	Wormian bones
OMIM:259440	PPIB	5479	HP:0005855	Multiple prenatal fractures
OMIM:259440	PPIB	5479	HP:0000592	Blue sclerae
OMIM:259440	PPIB	5479	HP:0000767	Pectus excavatum
OMIM:259440	PPIB	5479	HP:0000768	Pectus carinatum
OMIM:259440	PPIB	5479	HP:0002808	Kyphosis
OMIM:259440	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:616490	KIAA0586	9786	HP:0002104	Apnea
OMIM:616490	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:616490	KIAA0586	9786	HP:0002789	Tachypnea
OMIM:616490	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:616490	KIAA0586	9786	HP:0000496	Abnormality of eye movement
OMIM:615508	DSG1	1828	HP:0000982	Palmoplantar keratoderma
OMIM:615508	DSG1	1828	HP:0100792	Acantholysis
OMIM:615508	DSG1	1828	HP:0002205	Recurrent respiratory infections
OMIM:615508	DSG1	1828	HP:0001581	Recurrent skin infections
OMIM:615508	DSG1	1828	HP:0001019	Erythroderma
OMIM:615508	DSG1	1828	HP:0001510	Growth delay
OMIM:615508	DSG1	1828	HP:0003765	Psoriasiform dermatitis
OMIM:615508	DSG1	1828	HP:0000007	Autosomal recessive inheritance
OMIM:615508	DSG1	1828	HP:0001006	Hypotrichosis
OMIM:615508	DSG1	1828	HP:0003228	Hypernatremia
OMIM:183900	COL2A1	1280	HP:0002515	Waddling gait
OMIM:183900	COL2A1	1280	HP:0000545	Myopia
OMIM:183900	COL2A1	1280	HP:0001762	Talipes equinovarus
OMIM:183900	COL2A1	1280	HP:0000655	Vitreoretinal degeneration
OMIM:183900	COL2A1	1280	HP:0000470	Short neck
OMIM:183900	COL2A1	1280	HP:0008142	Delayed calcaneal ossification
OMIM:183900	COL2A1	1280	HP:0000175	Cleft palate
OMIM:183900	COL2A1	1280	HP:0002655	Spondyloepiphyseal dysplasia
OMIM:183900	COL2A1	1280	HP:0012368	Flat face
OMIM:183900	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:183900	COL2A1	1280	HP:0002808	Kyphosis
OMIM:183900	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:183900	COL2A1	1280	HP:0002938	Lumbar hyperlordosis
OMIM:183900	COL2A1	1280	HP:0001290	Generalized hypotonia
OMIM:183900	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:183900	COL2A1	1280	HP:0003071	Flattened epiphysis
OMIM:183900	COL2A1	1280	HP:0008857	Neonatal short-trunk short stature
OMIM:183900	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:183900	COL2A1	1280	HP:0002091	Restrictive ventilatory defect
OMIM:183900	COL2A1	1280	HP:0002812	Coxa vara
OMIM:183900	COL2A1	1280	HP:0010501	Limitation of knee mobility
OMIM:183900	COL2A1	1280	HP:0002650	Scoliosis
OMIM:183900	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:183900	COL2A1	1280	HP:0008800	Limited hip movement
OMIM:183900	COL2A1	1280	HP:0003300	Ovoid vertebral bodies
OMIM:183900	COL2A1	1280	HP:0008788	Delayed pubic bone ossification
OMIM:183900	COL2A1	1280	HP:0002996	Limited elbow movement
OMIM:183900	COL2A1	1280	HP:0002827	Hip dislocation
OMIM:183900	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
OMIM:183900	COL2A1	1280	HP:0000272	Malar flattening
OMIM:183900	COL2A1	1280	HP:0002098	Respiratory distress
OMIM:183900	COL2A1	1280	HP:0002318	Cervical myelopathy
ORPHA:1947	CLN8	2055	HP:0000711	Restlessness
ORPHA:1947	CLN8	2055	HP:0000709	Psychosis
ORPHA:1947	CLN8	2055	HP:0002312	Clumsiness
ORPHA:1947	CLN8	2055	HP:0001249	Intellectual disability
ORPHA:1947	CLN8	2055	HP:0002069	Generalized tonic-clonic seizures
ORPHA:1947	CLN8	2055	HP:0001268	Mental deterioration
ORPHA:1947	CLN8	2055	HP:0000529	Progressive visual loss
ORPHA:1947	CLN8	2055	HP:0002376	Developmental regression
ORPHA:1947	CLN8	2055	HP:0002353	EEG abnormality
ORPHA:1947	CLN8	2055	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616521	MYT1L	23040	HP:0000006	Autosomal dominant inheritance
OMIM:616521	MYT1L	23040	HP:0001249	Intellectual disability
OMIM:616521	MYT1L	23040	HP:0001513	Obesity
OMIM:616521	MYT1L	23040	HP:0001263	Global developmental delay
OMIM:616521	MYT1L	23040	HP:0000718	Aggressive behavior
OMIM:616521	MYT1L	23040	HP:0000750	Delayed speech and language development
OMIM:611277	GABRG2	2566	HP:0002121	Absence seizures
OMIM:611277	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:611277	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:611277	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:611277	GABRG2	2566	HP:0007359	Focal seizures
OMIM:611277	GABRG2	2566	HP:0010819	Atonic seizures
ORPHA:63442	GDF5	8200	HP:0008843	Hip osteoarthritis
ORPHA:63442	GDF5	8200	HP:0001385	Hip dysplasia
ORPHA:63442	GDF5	8200	HP:0010034	Short 1st metacarpal
ORPHA:63442	GDF5	8200	HP:0004322	Short stature
ORPHA:63442	GDF5	8200	HP:0004220	Short middle phalanx of the 5th finger
ORPHA:63442	GDF5	8200	HP:0005930	Abnormality of epiphysis morphology
ORPHA:63442	GDF5	8200	HP:0000668	Hypodontia
ORPHA:63442	GDF5	8200	HP:0000684	Delayed eruption of teeth
OMIM:251290	OCLN	100506658	HP:0002240	Hepatomegaly
OMIM:251290	OCLN	100506658	HP:0001873	Thrombocytopenia
OMIM:251290	OCLN	100506658	HP:0002922	Increased CSF protein
OMIM:251290	OCLN	100506658	HP:0002910	Elevated hepatic transaminases
OMIM:251290	OCLN	100506658	HP:0001508	Failure to thrive
OMIM:251290	OCLN	100506658	HP:0001339	Lissencephaly
OMIM:251290	OCLN	100506658	HP:0001321	Cerebellar hypoplasia
OMIM:251290	OCLN	100506658	HP:0000639	Nystagmus
OMIM:251290	OCLN	100506658	HP:0001257	Spasticity
OMIM:251290	OCLN	100506658	HP:0001263	Global developmental delay
OMIM:251290	OCLN	100506658	HP:0000340	Sloping forehead
OMIM:251290	OCLN	100506658	HP:0001250	Seizures
OMIM:251290	OCLN	100506658	HP:0000952	Jaundice
OMIM:251290	OCLN	100506658	HP:0008936	Muscular hypotonia of the trunk
OMIM:251290	OCLN	100506658	HP:0001410	Decreased liver function
OMIM:251290	OCLN	100506658	HP:0003812	Phenotypic variability
OMIM:251290	OCLN	100506658	HP:0000218	High palate
OMIM:251290	OCLN	100506658	HP:0002126	Polymicrogyria
OMIM:251290	OCLN	100506658	HP:0002187	Intellectual disability, profound
OMIM:251290	OCLN	100506658	HP:0000308	Microretrognathia
OMIM:251290	OCLN	100506658	HP:0000252	Microcephaly
OMIM:251290	OCLN	100506658	HP:0000343	Long philtrum
OMIM:251290	OCLN	100506658	HP:0000007	Autosomal recessive inheritance
OMIM:251290	OCLN	100506658	HP:0000967	Petechiae
OMIM:251290	OCLN	100506658	HP:0001302	Pachygyria
OMIM:251290	OCLN	100506658	HP:0002514	Cerebral calcification
OMIM:251290	OCLN	100506658	HP:0000463	Anteverted nares
OMIM:251290	OCLN	100506658	HP:0001744	Splenomegaly
OMIM:251290	OCLN	100506658	HP:0002119	Ventriculomegaly
OMIM:251290	OCLN	100506658	HP:0000369	Low-set ears
OMIM:601110	ALG3	10195	HP:0000648	Optic atrophy
OMIM:601110	ALG3	10195	HP:0000612	Iris coloboma
OMIM:601110	ALG3	10195	HP:0002014	Diarrhea
OMIM:601110	ALG3	10195	HP:0005280	Depressed nasal bridge
OMIM:601110	ALG3	10195	HP:0000486	Strabismus
OMIM:601110	ALG3	10195	HP:0001181	Adducted thumb
OMIM:601110	ALG3	10195	HP:0100807	Long fingers
OMIM:601110	ALG3	10195	HP:0000193	Bifid uvula
OMIM:601110	ALG3	10195	HP:0008936	Muscular hypotonia of the trunk
OMIM:601110	ALG3	10195	HP:0001141	Severe visual impairment
OMIM:601110	ALG3	10195	HP:0002521	Hypsarrhythmia
OMIM:601110	ALG3	10195	HP:0001276	Hypertonia
OMIM:601110	ALG3	10195	HP:0001347	Hyperreflexia
OMIM:601110	ALG3	10195	HP:0000400	Macrotia
OMIM:601110	ALG3	10195	HP:0001508	Failure to thrive
OMIM:601110	ALG3	10195	HP:0001272	Cerebellar atrophy
OMIM:601110	ALG3	10195	HP:0001250	Seizures
OMIM:601110	ALG3	10195	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:601110	ALG3	10195	HP:0000414	Bulbous nose
OMIM:601110	ALG3	10195	HP:0000431	Wide nasal bridge
OMIM:601110	ALG3	10195	HP:0002164	Nail dysplasia
OMIM:601110	ALG3	10195	HP:0000218	High palate
OMIM:601110	ALG3	10195	HP:0002059	Cerebral atrophy
OMIM:601110	ALG3	10195	HP:0011473	Villous atrophy
OMIM:601110	ALG3	10195	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601110	ALG3	10195	HP:0003642	Type I transferrin isoform profile
OMIM:601110	ALG3	10195	HP:0001762	Talipes equinovarus
OMIM:601110	ALG3	10195	HP:0001263	Global developmental delay
OMIM:601110	ALG3	10195	HP:0000252	Microcephaly
OMIM:601110	ALG3	10195	HP:0001864	Clinodactyly of the 5th toe
OMIM:601110	ALG3	10195	HP:0001792	Small nail
OMIM:601110	ALG3	10195	HP:0000007	Autosomal recessive inheritance
OMIM:601110	ALG3	10195	HP:0009473	Joint contracture of the hand
OMIM:601110	ALG3	10195	HP:0002013	Vomiting
OMIM:601110	ALG3	10195	HP:0012537	Food intolerance
OMIM:601110	ALG3	10195	HP:0000286	Epicanthus
ORPHA:2379	RAB39B	116442	HP:0000486	Strabismus
ORPHA:2379	RAB39B	116442	HP:0001249	Intellectual disability
ORPHA:2379	RAB39B	116442	HP:0002167	Neurological speech impairment
ORPHA:2379	RAB39B	116442	HP:0001250	Seizures
ORPHA:2379	RAB39B	116442	HP:0002007	Frontal bossing
ORPHA:2379	RAB39B	116442	HP:0002396	Cogwheel rigidity
ORPHA:2379	RAB39B	116442	HP:0100022	Abnormality of movement
ORPHA:2379	RAB39B	116442	HP:0000256	Macrocephaly
OMIM:616736	TENM4	26011	HP:0003677	Slow progression
OMIM:616736	TENM4	26011	HP:0003828	Variable expressivity
OMIM:616736	TENM4	26011	HP:0002174	Postural tremor
OMIM:616736	TENM4	26011	HP:0003831	Age-dependent penetrance
OMIM:616736	TENM4	26011	HP:0000006	Autosomal dominant inheritance
OMIM:616736	TENM4	26011	HP:0002080	Intention tremor
OMIM:609153	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:269840	ZAP70	7535	HP:0001744	Splenomegaly
OMIM:269840	ZAP70	7535	HP:0002090	Pneumonia
OMIM:269840	ZAP70	7535	HP:0003139	Panhypogammaglobulinemia
OMIM:269840	ZAP70	7535	HP:0002014	Diarrhea
OMIM:269840	ZAP70	7535	HP:0000007	Autosomal recessive inheritance
OMIM:269840	ZAP70	7535	HP:0005401	Recurrent candida infections
OMIM:269840	ZAP70	7535	HP:0002240	Hepatomegaly
OMIM:269840	ZAP70	7535	HP:0000976	Eczematoid dermatitis
OMIM:269840	ZAP70	7535	HP:0001508	Failure to thrive
ORPHA:399808	NANOS1	340719	HP:0000837	Increased circulating gonadotropin level
ORPHA:399808	NANOS1	340719	HP:0012868	Sperm tail anomaly
ORPHA:399808	NANOS1	340719	HP:0012205	Globozoospermia
ORPHA:399808	NANOS1	340719	HP:0011961	Non-obstructive azoospermia
ORPHA:399808	NANOS1	340719	HP:0008734	Decreased testicular size
OMIM:136000	SMARCAD1	56916	HP:0000006	Autosomal dominant inheritance
OMIM:136000	SMARCAD1	56916	HP:0010765	Palmar hyperkeratosis
OMIM:136000	SMARCAD1	56916	HP:0001217	Clubbing
OMIM:136000	SMARCAD1	56916	HP:0007455	Adermatoglyphia
OMIM:215140	LBR	3930	HP:0003107	Abnormality of cholesterol metabolism
OMIM:215140	LBR	3930	HP:0000773	Short ribs
OMIM:215140	LBR	3930	HP:0001640	Cardiomegaly
OMIM:215140	LBR	3930	HP:0004510	Pancreatic islet-cell hyperplasia
OMIM:215140	LBR	3930	HP:0001367	Abnormal joint morphology
OMIM:215140	LBR	3930	HP:0010675	Abnormal foot bone ossification
OMIM:215140	LBR	3930	HP:0005280	Depressed nasal bridge
OMIM:215140	LBR	3930	HP:0002694	Sclerosis of skull base
OMIM:215140	LBR	3930	HP:0001830	Postaxial foot polydactyly
OMIM:215140	LBR	3930	HP:0006487	Bowing of the long bones
OMIM:215140	LBR	3930	HP:0009106	Abnormal pelvis bone ossification
OMIM:215140	LBR	3930	HP:0001852	Sandal gap
OMIM:215140	LBR	3930	HP:0010655	Epiphyseal stippling
OMIM:215140	LBR	3930	HP:0009107	Abnormal ossification involving the femoral head and neck
OMIM:215140	LBR	3930	HP:0005528	Bone marrow hypocellularity
OMIM:215140	LBR	3930	HP:0002089	Pulmonary hypoplasia
OMIM:215140	LBR	3930	HP:0005099	Severe hydrops fetalis
OMIM:215140	LBR	3930	HP:0008420	Punctate vertebral calcifications
OMIM:215140	LBR	3930	HP:0003027	Mesomelia
OMIM:215140	LBR	3930	HP:0008873	Disproportionate short-limb short stature
OMIM:215140	LBR	3930	HP:0000316	Hypertelorism
OMIM:215140	LBR	3930	HP:0000347	Micrognathia
OMIM:215140	LBR	3930	HP:0004598	Supernumerary vertebral ossification centers
OMIM:215140	LBR	3930	HP:0002202	Pleural effusion
OMIM:215140	LBR	3930	HP:0008516	Abnormality of the vertebral spinous processes
OMIM:215140	LBR	3930	HP:0006637	Sternal punctate calcifications
OMIM:215140	LBR	3930	HP:0000476	Cystic hygroma
OMIM:215140	LBR	3930	HP:0008905	Rhizomelia
OMIM:215140	LBR	3930	HP:0001433	Hepatosplenomegaly
OMIM:215140	LBR	3930	HP:0000272	Malar flattening
OMIM:215140	LBR	3930	HP:0002983	Micromelia
OMIM:215140	LBR	3930	HP:0000007	Autosomal recessive inheritance
OMIM:215140	LBR	3930	HP:0002566	Intestinal malrotation
OMIM:215140	LBR	3930	HP:0001539	Omphalocele
OMIM:215140	LBR	3930	HP:0000327	Hypoplasia of the maxilla
OMIM:215140	LBR	3930	HP:0006559	Hepatic calcification
OMIM:215140	LBR	3930	HP:0002101	Abnormal lung lobation
OMIM:215140	LBR	3930	HP:0009803	Short phalanx of finger
OMIM:215140	LBR	3930	HP:0000782	Abnormality of the scapula
OMIM:215140	LBR	3930	HP:0008479	Hypoplastic vertebral bodies
OMIM:215140	LBR	3930	HP:0001561	Polyhydramnios
OMIM:215140	LBR	3930	HP:0000890	Long clavicles
OMIM:215140	LBR	3930	HP:0001552	Barrel-shaped chest
OMIM:215140	LBR	3930	HP:0008754	Laryngeal calcification
OMIM:215140	LBR	3930	HP:0000774	Narrow chest
OMIM:215140	LBR	3930	HP:0004331	Decreased skull ossification
OMIM:215140	LBR	3930	HP:0001169	Broad palm
OMIM:215140	LBR	3930	HP:0001978	Extramedullary hematopoiesis
OMIM:215140	LBR	3930	HP:0002240	Hepatomegaly
OMIM:215140	LBR	3930	HP:0008364	Abnormality of the calcaneus
OMIM:215140	LBR	3930	HP:0000941	Short diaphyses
OMIM:215140	LBR	3930	HP:0006619	Anterior rib punctate calcifications
OMIM:215140	LBR	3930	HP:0002787	Tracheal calcification
OMIM:215140	LBR	3930	HP:0001790	Nonimmune hydrops fetalis
OMIM:215140	LBR	3930	HP:0000348	High forehead
OMIM:215140	LBR	3930	HP:0003015	Flared metaphysis
OMIM:215140	LBR	3930	HP:0009487	Ulnar deviation of the hand
OMIM:215140	LBR	3930	HP:0001802	Absent toenail
OMIM:215140	LBR	3930	HP:0003826	Stillbirth
OMIM:215140	LBR	3930	HP:0000256	Macrocephaly
OMIM:215140	LBR	3930	HP:0001162	Postaxial hand polydactyly
OMIM:215140	LBR	3930	HP:0003440	Horizontal sacrum
OMIM:215140	LBR	3930	HP:0003811	Neonatal death
OMIM:215140	LBR	3930	HP:0001804	Hypoplastic fingernail
OMIM:215140	LBR	3930	HP:0005019	Diaphyseal thickening
OMIM:215140	LBR	3930	HP:0010659	Patchy variation in bone mineral density
OMIM:215140	LBR	3930	HP:0000369	Low-set ears
OMIM:215140	LBR	3930	HP:0004599	Absent or minimally ossified vertebral bodies
OMIM:215140	LBR	3930	HP:0005716	Lethal skeletal dysplasia
OMIM:215140	LBR	3930	HP:0000692	Misalignment of teeth
OMIM:215140	LBR	3930	HP:0003021	Metaphyseal cupping
OMIM:215140	LBR	3930	HP:0000878	11 pairs of ribs
OMIM:215140	LBR	3930	HP:0005855	Multiple prenatal fractures
OMIM:613744	AP4E1	23431	HP:0001250	Seizures
OMIM:613744	AP4E1	23431	HP:0000395	Prominent antihelix
OMIM:613744	AP4E1	23431	HP:0003189	Long nose
OMIM:613744	AP4E1	23431	HP:0003487	Babinski sign
OMIM:613744	AP4E1	23431	HP:0001371	Flexion contracture
OMIM:613744	AP4E1	23431	HP:0003199	Decreased muscle mass
OMIM:613744	AP4E1	23431	HP:0000494	Downslanted palpebral fissures
OMIM:613744	AP4E1	23431	HP:0004322	Short stature
OMIM:613744	AP4E1	23431	HP:0000322	Short philtrum
OMIM:613744	AP4E1	23431	HP:0001319	Neonatal hypotonia
OMIM:613744	AP4E1	23431	HP:0000154	Wide mouth
OMIM:613744	AP4E1	23431	HP:0002120	Cerebral cortical atrophy
OMIM:613744	AP4E1	23431	HP:0003577	Congenital onset
OMIM:613744	AP4E1	23431	HP:0010864	Intellectual disability, severe
OMIM:613744	AP4E1	23431	HP:0001762	Talipes equinovarus
OMIM:613744	AP4E1	23431	HP:0000275	Narrow face
OMIM:613744	AP4E1	23431	HP:0001263	Global developmental delay
OMIM:613744	AP4E1	23431	HP:0001347	Hyperreflexia
OMIM:613744	AP4E1	23431	HP:0000252	Microcephaly
OMIM:613744	AP4E1	23431	HP:0001258	Spastic paraplegia
OMIM:613744	AP4E1	23431	HP:0002307	Drooling
OMIM:613744	AP4E1	23431	HP:0000414	Bulbous nose
OMIM:613744	AP4E1	23431	HP:0002119	Ventriculomegaly
OMIM:613744	AP4E1	23431	HP:0000431	Wide nasal bridge
OMIM:613744	AP4E1	23431	HP:0000307	Pointed chin
OMIM:613744	AP4E1	23431	HP:0000341	Narrow forehead
OMIM:613744	AP4E1	23431	HP:0001272	Cerebellar atrophy
OMIM:613744	AP4E1	23431	HP:0000280	Coarse facial features
OMIM:613744	AP4E1	23431	HP:0000639	Nystagmus
OMIM:613744	AP4E1	23431	HP:0000297	Facial hypotonia
OMIM:613744	AP4E1	23431	HP:0002510	Spastic tetraplegia
OMIM:613744	AP4E1	23431	HP:0000007	Autosomal recessive inheritance
ORPHA:3221	THRB	7068	HP:0000912	Sprengel anomaly
ORPHA:3221	THRB	7068	HP:0000768	Pectus carinatum
ORPHA:3221	THRB	7068	HP:0000820	Abnormality of the thyroid gland
ORPHA:3221	THRB	7068	HP:0000407	Sensorineural hearing impairment
ORPHA:3221	THRB	7068	HP:0000444	Convex nasal ridge
ORPHA:3221	THRB	7068	HP:0002750	Delayed skeletal maturation
ORPHA:3221	THRB	7068	HP:0010655	Epiphyseal stippling
OMIM:616541	XRCC4	7518	HP:0000821	Hypothyroidism
OMIM:616541	XRCC4	7518	HP:0000750	Delayed speech and language development
OMIM:616541	XRCC4	7518	HP:0000819	Diabetes mellitus
OMIM:616541	XRCC4	7518	HP:0000444	Convex nasal ridge
OMIM:616541	XRCC4	7518	HP:0000855	Insulin resistance
OMIM:616541	XRCC4	7518	HP:0003189	Long nose
OMIM:616541	XRCC4	7518	HP:0002136	Broad-based gait
OMIM:616541	XRCC4	7518	HP:0000054	Micropenis
OMIM:616541	XRCC4	7518	HP:0001260	Dysarthria
OMIM:616541	XRCC4	7518	HP:0000426	Prominent nasal bridge
OMIM:616541	XRCC4	7518	HP:0001310	Dysmetria
OMIM:616541	XRCC4	7518	HP:0002119	Ventriculomegaly
OMIM:616541	XRCC4	7518	HP:0000455	Broad nasal tip
OMIM:616541	XRCC4	7518	HP:0000639	Nystagmus
OMIM:616541	XRCC4	7518	HP:0009826	Limb undergrowth
OMIM:616541	XRCC4	7518	HP:0001263	Global developmental delay
OMIM:616541	XRCC4	7518	HP:0001888	Lymphopenia
OMIM:616541	XRCC4	7518	HP:0000490	Deeply set eye
OMIM:616541	XRCC4	7518	HP:0000086	Ectopic kidney
OMIM:616541	XRCC4	7518	HP:0004322	Short stature
OMIM:616541	XRCC4	7518	HP:0001620	High pitched voice
OMIM:616541	XRCC4	7518	HP:0009879	Cortical gyral simplification
OMIM:616541	XRCC4	7518	HP:0000601	Hypotelorism
OMIM:616541	XRCC4	7518	HP:0003119	Abnormality of lipid metabolism
OMIM:616541	XRCC4	7518	HP:0000023	Inguinal hernia
OMIM:616541	XRCC4	7518	HP:0000956	Acanthosis nigricans
OMIM:616541	XRCC4	7518	HP:0002075	Dysdiadochokinesis
OMIM:616541	XRCC4	7518	HP:0000763	Sensory neuropathy
OMIM:616541	XRCC4	7518	HP:0000122	Unilateral renal agenesis
OMIM:616541	XRCC4	7518	HP:0000325	Triangular face
OMIM:616541	XRCC4	7518	HP:0000276	Long face
OMIM:616541	XRCC4	7518	HP:0000692	Misalignment of teeth
OMIM:616541	XRCC4	7518	HP:0000340	Sloping forehead
OMIM:616541	XRCC4	7518	HP:0001511	Intrauterine growth retardation
OMIM:616541	XRCC4	7518	HP:0000252	Microcephaly
OMIM:616541	XRCC4	7518	HP:0000348	High forehead
OMIM:616541	XRCC4	7518	HP:0000007	Autosomal recessive inheritance
OMIM:616541	XRCC4	7518	HP:0006855	Cerebellar vermis atrophy
OMIM:616541	XRCC4	7518	HP:0000331	Short chin
OMIM:616541	XRCC4	7518	HP:0000028	Cryptorchidism
OMIM:616541	XRCC4	7518	HP:0100543	Cognitive impairment
OMIM:616541	XRCC4	7518	HP:0000089	Renal hypoplasia
OMIM:600496	HNF1A	6927	HP:0003593	Infantile onset
OMIM:600496	HNF1A	6927	HP:0005978	Type II diabetes mellitus
OMIM:600496	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:600496	HNF1A	6927	HP:0003074	Hyperglycemia
OMIM:600496	HNF1A	6927	HP:0004904	Maturity-onset diabetes of the young
OMIM:186570	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:186570	NOG	9241	HP:0006152	Proximal symphalangism of hands
OMIM:186570	NOG	9241	HP:0004322	Short stature
OMIM:186570	NOG	9241	HP:0006147	Progressive fusion 2nd-5th pip joints
OMIM:186570	NOG	9241	HP:0001156	Brachydactyly
OMIM:186570	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:186570	NOG	9241	HP:0030084	Clinodactyly
OMIM:186570	NOG	9241	HP:0009381	Short finger
OMIM:186570	NOG	9241	HP:0009466	Radial deviation of finger
OMIM:186570	NOG	9241	HP:0010034	Short 1st metacarpal
OMIM:186570	NOG	9241	HP:0009702	Carpal synostosis
OMIM:300802	SYP	6855	HP:0001423	X-linked dominant inheritance
OMIM:300802	SYP	6855	HP:0001249	Intellectual disability
ORPHA:280356	PLIN1	5346	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:280356	PLIN1	5346	HP:0008981	Calf muscle hypertrophy
ORPHA:280356	PLIN1	5346	HP:0009017	Loss of gluteal subcutaneous adipose tissue
ORPHA:280356	PLIN1	5346	HP:0100578	Lipoatrophy
ORPHA:280356	PLIN1	5346	HP:0000876	Oligomenorrhea
ORPHA:280356	PLIN1	5346	HP:0003758	Reduced subcutaneous adipose tissue
ORPHA:280356	PLIN1	5346	HP:0000147	Polycystic ovaries
ORPHA:280356	PLIN1	5346	HP:0001395	Hepatic fibrosis
ORPHA:280356	PLIN1	5346	HP:0001397	Hepatic steatosis
ORPHA:280356	PLIN1	5346	HP:0000842	Hyperinsulinemia
ORPHA:280356	PLIN1	5346	HP:0000956	Acanthosis nigricans
ORPHA:280356	PLIN1	5346	HP:0000877	Insulin-resistant diabetes mellitus at puberty
ORPHA:280356	PLIN1	5346	HP:0002155	Hypertriglyceridemia
ORPHA:280356	PLIN1	5346	HP:0000789	Infertility
ORPHA:280356	PLIN1	5346	HP:0000822	Hypertension
ORPHA:324290	PRDM8	56978	HP:0001347	Hyperreflexia
ORPHA:324290	PRDM8	56978	HP:0100318	Lafora bodies
ORPHA:324290	PRDM8	56978	HP:0001260	Dysarthria
ORPHA:324290	PRDM8	56978	HP:0001336	Myoclonus
OMIM:614019	NDE1	54820	HP:0001339	Lissencephaly
OMIM:614019	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:614019	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:614019	NDE1	54820	HP:0001321	Cerebellar hypoplasia
OMIM:614019	NDE1	54820	HP:0001250	Seizures
OMIM:614019	NDE1	54820	HP:0003577	Congenital onset
OMIM:614019	NDE1	54820	HP:0000252	Microcephaly
OMIM:614019	NDE1	54820	HP:0001263	Global developmental delay
OMIM:614019	NDE1	54820	HP:0002187	Intellectual disability, profound
OMIM:614019	NDE1	54820	HP:0009879	Cortical gyral simplification
OMIM:261670	PGAM2	5224	HP:0000083	Renal insufficiency
OMIM:261670	PGAM2	5224	HP:0003201	Rhabdomyolysis
OMIM:261670	PGAM2	5224	HP:0003546	Exercise intolerance
OMIM:261670	PGAM2	5224	HP:0003738	Exercise-induced myalgia
OMIM:261670	PGAM2	5224	HP:0003710	Exercise-induced muscle cramps
OMIM:261670	PGAM2	5224	HP:0000007	Autosomal recessive inheritance
OMIM:261670	PGAM2	5224	HP:0002913	Myoglobinuria
OMIM:261670	PGAM2	5224	HP:0003198	Myopathy
OMIM:261670	PGAM2	5224	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:1473	YAP1	10413	HP:0001249	Intellectual disability
ORPHA:1473	YAP1	10413	HP:0000407	Sensorineural hearing impairment
ORPHA:1473	YAP1	10413	HP:0000568	Microphthalmia
ORPHA:1473	YAP1	10413	HP:0002744	Bilateral cleft lip and palate
ORPHA:1473	YAP1	10413	HP:0000790	Hematuria
ORPHA:1473	YAP1	10413	HP:0000567	Chorioretinal coloboma
ORPHA:1473	YAP1	10413	HP:0000612	Iris coloboma
ORPHA:67036	OPA3	80207	HP:0012531	Pain
ORPHA:67036	OPA3	80207	HP:0010924	Posterior cortical cataract
ORPHA:67036	OPA3	80207	HP:0001272	Cerebellar atrophy
ORPHA:67036	OPA3	80207	HP:0000639	Nystagmus
ORPHA:67036	OPA3	80207	HP:0002174	Postural tremor
ORPHA:67036	OPA3	80207	HP:0000603	Central scotoma
ORPHA:67036	OPA3	80207	HP:0001251	Ataxia
ORPHA:67036	OPA3	80207	HP:0003394	Muscle cramps
ORPHA:67036	OPA3	80207	HP:0003401	Paresthesia
ORPHA:67036	OPA3	80207	HP:0000648	Optic atrophy
ORPHA:67036	OPA3	80207	HP:0007663	Reduced visual acuity
ORPHA:67036	OPA3	80207	HP:0002317	Unsteady gait
ORPHA:139474	NF1	4763	HP:0006297	Hypoplasia of dental enamel
ORPHA:139474	NF1	4763	HP:0000252	Microcephaly
ORPHA:139474	NF1	4763	HP:0004322	Short stature
ORPHA:139474	NF1	4763	HP:0001263	Global developmental delay
ORPHA:139474	NF1	4763	HP:0001249	Intellectual disability
ORPHA:1496	SLC12A6	9990	HP:0001249	Intellectual disability
ORPHA:1496	SLC12A6	9990	HP:0001250	Seizures
ORPHA:1496	SLC12A6	9990	HP:0000252	Microcephaly
ORPHA:1496	SLC12A6	9990	HP:0001274	Agenesis of corpus callosum
ORPHA:1496	SLC12A6	9990	HP:0004374	Hemiplegia/hemiparesis
ORPHA:1496	SLC12A6	9990	HP:0001263	Global developmental delay
ORPHA:1496	SLC12A6	9990	HP:0002353	EEG abnormality
ORPHA:1496	SLC12A6	9990	HP:0002410	Aqueductal stenosis
OMIM:600132	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600132	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:263300	JAK2	3717	HP:0002239	Gastrointestinal hemorrhage
OMIM:263300	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:263300	JAK2	3717	HP:0003745	Sporadic
OMIM:263300	JAK2	3717	HP:0001899	Increased hematocrit
OMIM:263300	JAK2	3717	HP:0001898	Increased red blood cell mass
OMIM:263300	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:263300	JAK2	3717	HP:0001428	Somatic mutation
OMIM:263300	JAK2	3717	HP:0001873	Thrombocytopenia
OMIM:263300	JAK2	3717	HP:0001744	Splenomegaly
OMIM:263300	JAK2	3717	HP:0005513	Increased megakaryocyte count
OMIM:263300	JAK2	3717	HP:0001342	Cerebral hemorrhage
OMIM:263300	JAK2	3717	HP:0001907	Thromboembolism
OMIM:263300	JAK2	3717	HP:0001900	Increased hemoglobin
OMIM:263300	JAK2	3717	HP:0001974	Leukocytosis
OMIM:263300	JAK2	3717	HP:0002637	Cerebral ischemia
OMIM:263300	JAK2	3717	HP:0002639	Budd-Chiari syndrome
OMIM:307000	L1CAM	3897	HP:0001181	Adducted thumb
OMIM:307000	L1CAM	3897	HP:0001274	Agenesis of corpus callosum
OMIM:307000	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:307000	L1CAM	3897	HP:0007016	Corticospinal tract hypoplasia
OMIM:307000	L1CAM	3897	HP:0009600	Flexion contracture of thumb
OMIM:307000	L1CAM	3897	HP:0000256	Macrocephaly
OMIM:307000	L1CAM	3897	HP:0001257	Spasticity
OMIM:307000	L1CAM	3897	HP:0001419	X-linked recessive inheritance
OMIM:307000	L1CAM	3897	HP:0001258	Spastic paraplegia
OMIM:307000	L1CAM	3897	HP:0001331	Absent septum pellucidum
OMIM:307000	L1CAM	3897	HP:0002410	Aqueductal stenosis
OMIM:307000	L1CAM	3897	HP:0000238	Hydrocephalus
ORPHA:3193	ELN	2006	HP:0004381	Supravalvular aortic stenosis
ORPHA:3193	ELN	2006	HP:0011675	Arrhythmia
ORPHA:220393	CTGF	1490	HP:0002113	Pulmonary infiltrates
ORPHA:220393	CTGF	1490	HP:0002015	Dysphagia
ORPHA:220393	CTGF	1490	HP:0000670	Carious teeth
ORPHA:220393	CTGF	1490	HP:0002020	Gastroesophageal reflux
ORPHA:220393	CTGF	1490	HP:0001369	Arthritis
ORPHA:220393	CTGF	1490	HP:0002024	Malabsorption
ORPHA:220393	CTGF	1490	HP:0002094	Dyspnea
ORPHA:220393	CTGF	1490	HP:0001371	Flexion contracture
ORPHA:220393	CTGF	1490	HP:0200042	Skin ulcer
ORPHA:220393	CTGF	1490	HP:0000217	Xerostomia
ORPHA:220393	CTGF	1490	HP:0030016	Dyspareunia
ORPHA:220393	CTGF	1490	HP:0001324	Muscle weakness
ORPHA:220393	CTGF	1490	HP:0002206	Pulmonary fibrosis
ORPHA:220393	CTGF	1490	HP:0100958	Narrow foramen obturatorium
ORPHA:220393	CTGF	1490	HP:0002960	Autoimmunity
ORPHA:220393	CTGF	1490	HP:0100520	Oliguria
ORPHA:220393	CTGF	1490	HP:0002797	Osteolysis
ORPHA:220393	CTGF	1490	HP:0002829	Arthralgia
ORPHA:220393	CTGF	1490	HP:0100585	Telangiectasia of the skin
ORPHA:220393	HLA-DRB1	3123	HP:0002113	Pulmonary infiltrates
ORPHA:220393	HLA-DRB1	3123	HP:0002015	Dysphagia
ORPHA:220393	HLA-DRB1	3123	HP:0000670	Carious teeth
ORPHA:220393	HLA-DRB1	3123	HP:0002020	Gastroesophageal reflux
ORPHA:220393	HLA-DRB1	3123	HP:0001369	Arthritis
ORPHA:220393	HLA-DRB1	3123	HP:0002024	Malabsorption
ORPHA:220393	HLA-DRB1	3123	HP:0002094	Dyspnea
ORPHA:220393	HLA-DRB1	3123	HP:0001371	Flexion contracture
ORPHA:220393	HLA-DRB1	3123	HP:0200042	Skin ulcer
ORPHA:220393	HLA-DRB1	3123	HP:0000217	Xerostomia
ORPHA:220393	HLA-DRB1	3123	HP:0030016	Dyspareunia
ORPHA:220393	HLA-DRB1	3123	HP:0001324	Muscle weakness
ORPHA:220393	HLA-DRB1	3123	HP:0002206	Pulmonary fibrosis
ORPHA:220393	HLA-DRB1	3123	HP:0100958	Narrow foramen obturatorium
ORPHA:220393	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHA:220393	HLA-DRB1	3123	HP:0100520	Oliguria
ORPHA:220393	HLA-DRB1	3123	HP:0002797	Osteolysis
ORPHA:220393	HLA-DRB1	3123	HP:0002829	Arthralgia
ORPHA:220393	HLA-DRB1	3123	HP:0100585	Telangiectasia of the skin
ORPHA:220393	CCR6	1235	HP:0002113	Pulmonary infiltrates
ORPHA:220393	CCR6	1235	HP:0002015	Dysphagia
ORPHA:220393	CCR6	1235	HP:0000670	Carious teeth
ORPHA:220393	CCR6	1235	HP:0002020	Gastroesophageal reflux
ORPHA:220393	CCR6	1235	HP:0001369	Arthritis
ORPHA:220393	CCR6	1235	HP:0002024	Malabsorption
ORPHA:220393	CCR6	1235	HP:0002094	Dyspnea
ORPHA:220393	CCR6	1235	HP:0001371	Flexion contracture
ORPHA:220393	CCR6	1235	HP:0200042	Skin ulcer
ORPHA:220393	CCR6	1235	HP:0000217	Xerostomia
ORPHA:220393	CCR6	1235	HP:0030016	Dyspareunia
ORPHA:220393	CCR6	1235	HP:0001324	Muscle weakness
ORPHA:220393	CCR6	1235	HP:0002206	Pulmonary fibrosis
ORPHA:220393	CCR6	1235	HP:0100958	Narrow foramen obturatorium
ORPHA:220393	CCR6	1235	HP:0002960	Autoimmunity
ORPHA:220393	CCR6	1235	HP:0100520	Oliguria
ORPHA:220393	CCR6	1235	HP:0002797	Osteolysis
ORPHA:220393	CCR6	1235	HP:0002829	Arthralgia
ORPHA:220393	CCR6	1235	HP:0100585	Telangiectasia of the skin
ORPHA:220393	CAV1	857	HP:0002113	Pulmonary infiltrates
ORPHA:220393	CAV1	857	HP:0002015	Dysphagia
ORPHA:220393	CAV1	857	HP:0000670	Carious teeth
ORPHA:220393	CAV1	857	HP:0002020	Gastroesophageal reflux
ORPHA:220393	CAV1	857	HP:0001369	Arthritis
ORPHA:220393	CAV1	857	HP:0002024	Malabsorption
ORPHA:220393	CAV1	857	HP:0002094	Dyspnea
ORPHA:220393	CAV1	857	HP:0001371	Flexion contracture
ORPHA:220393	CAV1	857	HP:0200042	Skin ulcer
ORPHA:220393	CAV1	857	HP:0000217	Xerostomia
ORPHA:220393	CAV1	857	HP:0030016	Dyspareunia
ORPHA:220393	CAV1	857	HP:0001324	Muscle weakness
ORPHA:220393	CAV1	857	HP:0002206	Pulmonary fibrosis
ORPHA:220393	CAV1	857	HP:0100958	Narrow foramen obturatorium
ORPHA:220393	CAV1	857	HP:0002960	Autoimmunity
ORPHA:220393	CAV1	857	HP:0100520	Oliguria
ORPHA:220393	CAV1	857	HP:0002797	Osteolysis
ORPHA:220393	CAV1	857	HP:0002829	Arthralgia
ORPHA:220393	CAV1	857	HP:0100585	Telangiectasia of the skin
ORPHA:220393	IRF5	3663	HP:0002113	Pulmonary infiltrates
ORPHA:220393	IRF5	3663	HP:0002015	Dysphagia
ORPHA:220393	IRF5	3663	HP:0000670	Carious teeth
ORPHA:220393	IRF5	3663	HP:0002020	Gastroesophageal reflux
ORPHA:220393	IRF5	3663	HP:0001369	Arthritis
ORPHA:220393	IRF5	3663	HP:0002024	Malabsorption
ORPHA:220393	IRF5	3663	HP:0002094	Dyspnea
ORPHA:220393	IRF5	3663	HP:0001371	Flexion contracture
ORPHA:220393	IRF5	3663	HP:0200042	Skin ulcer
ORPHA:220393	IRF5	3663	HP:0000217	Xerostomia
ORPHA:220393	IRF5	3663	HP:0030016	Dyspareunia
ORPHA:220393	IRF5	3663	HP:0001324	Muscle weakness
ORPHA:220393	IRF5	3663	HP:0002206	Pulmonary fibrosis
ORPHA:220393	IRF5	3663	HP:0100958	Narrow foramen obturatorium
ORPHA:220393	IRF5	3663	HP:0002960	Autoimmunity
ORPHA:220393	IRF5	3663	HP:0100520	Oliguria
ORPHA:220393	IRF5	3663	HP:0002797	Osteolysis
ORPHA:220393	IRF5	3663	HP:0002829	Arthralgia
ORPHA:220393	IRF5	3663	HP:0100585	Telangiectasia of the skin
OMIM:609404	STOX1	219736	HP:0100602	Preeclampsia
OMIM:609404	STOX1	219736	HP:0010982	Polygenic inheritance
OMIM:609404	STOX1	219736	HP:0100601	Eclampsia
ORPHA:1180	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:1180	PNPLA6	10908	HP:0001135	Chorioretinal dystrophy
ORPHA:1180	PNPLA6	10908	HP:0001251	Ataxia
OMIM:264080	PGR	5241	HP:0008222	Female infertility
OMIM:264080	PGR	5241	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264080	PGR	5241	HP:0000007	Autosomal recessive inheritance
ORPHA:3342	SLC2A10	81031	HP:0005692	Joint hyperflexibility
ORPHA:3342	SLC2A10	81031	HP:0000276	Long face
ORPHA:3342	SLC2A10	81031	HP:0002616	Aortic root dilatation
ORPHA:3342	SLC2A10	81031	HP:0000316	Hypertelorism
ORPHA:3342	SLC2A10	81031	HP:0000400	Macrotia
ORPHA:3342	SLC2A10	81031	HP:0004415	Pulmonary artery stenosis
ORPHA:3342	SLC2A10	81031	HP:0001635	Congestive heart failure
ORPHA:3342	SLC2A10	81031	HP:0002647	Aortic dissection
ORPHA:3342	SLC2A10	81031	HP:0000974	Hyperextensible skin
ORPHA:3342	SLC2A10	81031	HP:0008501	Median cleft lip and palate
ORPHA:3342	SLC2A10	81031	HP:0001363	Craniosynostosis
ORPHA:3342	SLC2A10	81031	HP:0004942	Aortic aneurysm
ORPHA:3342	SLC2A10	81031	HP:0100585	Telangiectasia of the skin
ORPHA:3342	SLC2A10	81031	HP:0012378	Fatigue
ORPHA:3342	SLC2A10	81031	HP:0000963	Thin skin
ORPHA:3342	SLC2A10	81031	HP:0005344	Abnormal carotid artery morphology
ORPHA:3342	SLC2A10	81031	HP:0100541	Femoral hernia
ORPHA:3342	SLC2A10	81031	HP:0000023	Inguinal hernia
OMIM:210600	ATR	545	HP:0000444	Convex nasal ridge
OMIM:210600	ATR	545	HP:0000486	Strabismus
OMIM:210600	ATR	545	HP:0000494	Downslanted palpebral fissures
OMIM:210600	ATR	545	HP:0003508	Proportionate short stature
OMIM:210600	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:210600	ATR	545	HP:0000689	Dental malocclusion
OMIM:210600	ATR	545	HP:0000878	11 pairs of ribs
OMIM:210600	ATR	545	HP:0002987	Elbow flexion contracture
OMIM:210600	ATR	545	HP:0000752	Hyperactivity
OMIM:210600	ATR	545	HP:0000340	Sloping forehead
OMIM:210600	ATR	545	HP:0000252	Microcephaly
OMIM:210600	ATR	545	HP:0000581	Blepharophimosis
OMIM:210600	ATR	545	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	ATR	545	HP:0000678	Dental crowding
OMIM:210600	ATR	545	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	ATR	545	HP:0000237	Small anterior fontanelle
OMIM:210600	ATR	545	HP:0000324	Facial asymmetry
OMIM:210600	ATR	545	HP:0008665	Clitoral hypertrophy
OMIM:210600	ATR	545	HP:0002827	Hip dislocation
OMIM:210600	ATR	545	HP:0000347	Micrognathia
OMIM:210600	ATR	545	HP:0006143	Abnormal finger flexion creases
OMIM:210600	ATR	545	HP:0001876	Pancytopenia
OMIM:210600	ATR	545	HP:0000218	High palate
OMIM:210600	ATR	545	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	ATR	545	HP:0000369	Low-set ears
OMIM:210600	ATR	545	HP:0001763	Pes planus
OMIM:210600	ATR	545	HP:0008897	Postnatal growth retardation
OMIM:210600	ATR	545	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	ATR	545	HP:0000448	Prominent nose
OMIM:210600	ATR	545	HP:0002750	Delayed skeletal maturation
OMIM:210600	ATR	545	HP:0010583	Ivory epiphyses
OMIM:210600	ATR	545	HP:0007048	Large basal ganglia
OMIM:210600	ATR	545	HP:0001302	Pachygyria
OMIM:210600	ATR	545	HP:0001592	Selective tooth agenesis
OMIM:210600	ATR	545	HP:0001250	Seizures
OMIM:210600	ATR	545	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	ATR	545	HP:0003083	Dislocated radial head
OMIM:210600	ATR	545	HP:0000028	Cryptorchidism
OMIM:210600	ATR	545	HP:0000047	Hypospadias
OMIM:210600	ATR	545	HP:0002650	Scoliosis
OMIM:210600	ATR	545	HP:0001883	Talipes
OMIM:210600	ATR	545	HP:0001090	Large eyes
OMIM:210600	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:210600	ATR	545	HP:0000954	Single transverse palmar crease
OMIM:210600	ATR	545	HP:0001249	Intellectual disability
OMIM:210600	ATR	545	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	ATR	545	HP:0001852	Sandal gap
OMIM:210600	ATR	545	HP:0000175	Cleft palate
OMIM:210600	ATR	545	HP:0000377	Abnormality of the pinna
OMIM:133701	EXT2	2132	HP:0010049	Short metacarpal
OMIM:133701	EXT2	2132	HP:0003068	Madelung-like forearm deformities
OMIM:133701	EXT2	2132	HP:0002857	Genu valgum
OMIM:133701	EXT2	2132	HP:0006765	Chondrosarcoma
OMIM:133701	EXT2	2132	HP:0000896	Rib exostoses
OMIM:133701	EXT2	2132	HP:0004322	Short stature
OMIM:133701	EXT2	2132	HP:0000006	Autosomal dominant inheritance
OMIM:133701	EXT2	2132	HP:0002318	Cervical myelopathy
OMIM:133701	EXT2	2132	HP:0003276	Pelvic bone exostoses
OMIM:133701	EXT2	2132	HP:0003621	Juvenile onset
OMIM:133701	EXT2	2132	HP:0002812	Coxa vara
OMIM:133701	EXT2	2132	HP:0003105	Protuberances at ends of long bones
OMIM:133701	EXT2	2132	HP:0000918	Scapular exostoses
OMIM:133701	EXT2	2132	HP:0003406	Peripheral nerve compression
OMIM:613443	MEF2C	4208	HP:0000322	Short philtrum
OMIM:613443	MEF2C	4208	HP:0000463	Anteverted nares
OMIM:613443	MEF2C	4208	HP:0001290	Generalized hypotonia
OMIM:613443	MEF2C	4208	HP:0000337	Broad forehead
OMIM:613443	MEF2C	4208	HP:0003745	Sporadic
OMIM:613443	MEF2C	4208	HP:0000331	Short chin
OMIM:613443	MEF2C	4208	HP:0003196	Short nose
OMIM:613443	MEF2C	4208	HP:0001250	Seizures
OMIM:613443	MEF2C	4208	HP:0000369	Low-set ears
OMIM:613443	MEF2C	4208	HP:0000582	Upslanted palpebral fissure
OMIM:613443	MEF2C	4208	HP:0001270	Motor delay
OMIM:613443	MEF2C	4208	HP:0000316	Hypertelorism
OMIM:613443	MEF2C	4208	HP:0002119	Ventriculomegaly
OMIM:613443	MEF2C	4208	HP:0002540	Inability to walk
OMIM:613443	MEF2C	4208	HP:0010864	Intellectual disability, severe
OMIM:613443	MEF2C	4208	HP:0000817	Poor eye contact
OMIM:613443	MEF2C	4208	HP:0005280	Depressed nasal bridge
OMIM:613443	MEF2C	4208	HP:0002714	Downturned corners of mouth
OMIM:613443	MEF2C	4208	HP:0000006	Autosomal dominant inheritance
OMIM:125310	NOTCH3	4854	HP:0000951	Abnormality of the skin
OMIM:125310	NOTCH3	4854	HP:0001297	Stroke
OMIM:125310	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:125310	NOTCH3	4854	HP:0002352	Leukoencephalopathy
OMIM:125310	NOTCH3	4854	HP:0007236	Recurrent subcortical infarcts
OMIM:125310	NOTCH3	4854	HP:0000649	Abnormality of visual evoked potentials
OMIM:125310	NOTCH3	4854	HP:0007634	Nonarteritic anterior ischemic optic neuropathy
OMIM:125310	NOTCH3	4854	HP:0001288	Gait disturbance
OMIM:125310	NOTCH3	4854	HP:0003581	Adult onset
OMIM:125310	NOTCH3	4854	HP:0007123	Subcortical dementia
OMIM:125310	NOTCH3	4854	HP:0002619	Varicose veins
OMIM:125310	NOTCH3	4854	HP:0000020	Urinary incontinence
OMIM:125310	NOTCH3	4854	HP:0002076	Migraine
OMIM:125310	NOTCH3	4854	HP:0000512	Abnormal electroretinogram
OMIM:125310	NOTCH3	4854	HP:0007024	Pseudobulbar paralysis
OMIM:125310	NOTCH3	4854	HP:0001250	Seizures
OMIM:603278	ACTN4	81	HP:0003677	Slow progression
OMIM:603278	ACTN4	81	HP:0000969	Edema
OMIM:603278	ACTN4	81	HP:0001903	Anemia
OMIM:603278	ACTN4	81	HP:0003828	Variable expressivity
OMIM:603278	ACTN4	81	HP:0000006	Autosomal dominant inheritance
OMIM:603278	ACTN4	81	HP:0000822	Hypertension
OMIM:603278	ACTN4	81	HP:0003073	Hypoalbuminemia
OMIM:603278	ACTN4	81	HP:0000097	Focal segmental glomerulosclerosis
OMIM:603278	ACTN4	81	HP:0003077	Hyperlipidemia
OMIM:603278	ACTN4	81	HP:0000093	Proteinuria
OMIM:603278	ACTN4	81	HP:0003829	Incomplete penetrance
ORPHA:157215	SLC34A3	142680	HP:0002748	Rickets
ORPHA:157215	SLC34A3	142680	HP:0002148	Hypophosphatemia
ORPHA:157215	SLC34A3	142680	HP:0002653	Bone pain
ORPHA:157215	SLC34A3	142680	HP:0002749	Osteomalacia
ORPHA:157215	SLC34A3	142680	HP:0001324	Muscle weakness
ORPHA:157215	SLC34A3	142680	HP:0002150	Hypercalciuria
ORPHA:157215	SLC34A3	142680	HP:0004322	Short stature
ORPHA:1896	TP63	8626	HP:0000670	Carious teeth
ORPHA:1896	TP63	8626	HP:0001171	Split hand
ORPHA:1896	TP63	8626	HP:0000682	Abnormality of dental enamel
ORPHA:1896	TP63	8626	HP:0000613	Photophobia
ORPHA:1896	TP63	8626	HP:0008404	Nail dystrophy
ORPHA:1896	TP63	8626	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1896	TP63	8626	HP:0000958	Dry skin
ORPHA:1896	TP63	8626	HP:0000498	Blepharitis
ORPHA:1896	TP63	8626	HP:0000679	Taurodontia
ORPHA:1896	TP63	8626	HP:0001803	Nail pits
ORPHA:1896	TP63	8626	HP:0000535	Sparse and thin eyebrow
ORPHA:1896	TP63	8626	HP:0002217	Slow-growing hair
ORPHA:1896	TP63	8626	HP:0007513	Generalized hypopigmentation
ORPHA:1896	TP63	8626	HP:0000632	Lacrimation abnormality
ORPHA:1896	TP63	8626	HP:0000691	Microdontia
ORPHA:1896	TP63	8626	HP:0000574	Thick eyebrow
ORPHA:1896	TP63	8626	HP:0008678	Renal hypoplasia/aplasia
ORPHA:1896	TP63	8626	HP:0000491	Keratitis
ORPHA:1896	TP63	8626	HP:0000126	Hydronephrosis
ORPHA:1896	TP63	8626	HP:0000962	Hyperkeratosis
ORPHA:1896	TP63	8626	HP:0200020	Corneal erosion
ORPHA:1896	TP63	8626	HP:0000068	Urethral atresia
ORPHA:1896	TP63	8626	HP:0001839	Split foot
ORPHA:1896	TP63	8626	HP:0002208	Coarse hair
ORPHA:1896	TP63	8626	HP:0009804	Reduced number of teeth
OMIM:117000	RYR1	6261	HP:0003798	Nemaline bodies
OMIM:117000	RYR1	6261	HP:0001270	Motor delay
OMIM:117000	RYR1	6261	HP:0001374	Congenital hip dislocation
OMIM:117000	RYR1	6261	HP:0002751	Kyphoscoliosis
OMIM:117000	RYR1	6261	HP:0001763	Pes planus
OMIM:117000	RYR1	6261	HP:0000007	Autosomal recessive inheritance
OMIM:117000	RYR1	6261	HP:0003803	Type 1 muscle fiber predominance
OMIM:117000	RYR1	6261	HP:0003812	Phenotypic variability
OMIM:117000	RYR1	6261	HP:0003680	Nonprogressive
OMIM:117000	RYR1	6261	HP:0001945	Fever
OMIM:117000	RYR1	6261	HP:0003324	Generalized muscle weakness
OMIM:117000	RYR1	6261	HP:0003677	Slow progression
OMIM:117000	RYR1	6261	HP:0001319	Neonatal hypotonia
OMIM:117000	RYR1	6261	HP:0001371	Flexion contracture
OMIM:117000	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:117000	RYR1	6261	HP:0003202	Skeletal muscle atrophy
OMIM:117000	RYR1	6261	HP:0003593	Infantile onset
OMIM:608471	TGFBI	7045	HP:0200020	Corneal erosion
OMIM:608471	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:608471	TGFBI	7045	HP:0007663	Reduced visual acuity
OMIM:608471	TGFBI	7045	HP:0000505	Visual impairment
OMIM:608471	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
ORPHA:1519	SPECC1L	23384	HP:0000343	Long philtrum
ORPHA:1519	SPECC1L	23384	HP:0000574	Thick eyebrow
ORPHA:1519	SPECC1L	23384	HP:0001156	Brachydactyly
ORPHA:1519	SPECC1L	23384	HP:0003196	Short nose
ORPHA:1519	SPECC1L	23384	HP:0000028	Cryptorchidism
ORPHA:1519	SPECC1L	23384	HP:0000049	Shawl scrotum
ORPHA:1519	SPECC1L	23384	HP:0000431	Wide nasal bridge
ORPHA:1519	SPECC1L	23384	HP:0006101	Finger syndactyly
ORPHA:1519	SPECC1L	23384	HP:0000349	Widow's peak
ORPHA:1519	SPECC1L	23384	HP:0000232	Everted lower lip vermilion
ORPHA:1519	SPECC1L	23384	HP:0000233	Thin vermilion border
ORPHA:1519	SPECC1L	23384	HP:0004467	Preauricular pit
ORPHA:1519	SPECC1L	23384	HP:0000311	Round face
ORPHA:1519	SPECC1L	23384	HP:0011039	Abnormality of the helix
ORPHA:1519	SPECC1L	23384	HP:0011220	Prominent forehead
ORPHA:1519	SPECC1L	23384	HP:0000494	Downslanted palpebral fissures
ORPHA:1519	SPECC1L	23384	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1519	SPECC1L	23384	HP:0000369	Low-set ears
ORPHA:1519	SPECC1L	23384	HP:0000508	Ptosis
ORPHA:1519	SPECC1L	23384	HP:0000316	Hypertelorism
ORPHA:1519	SPECC1L	23384	HP:0001537	Umbilical hernia
ORPHA:1519	SPECC1L	23384	HP:0002553	Highly arched eyebrow
ORPHA:1519	SPECC1L	23384	HP:0001831	Short toe
ORPHA:1519	SPECC1L	23384	HP:0000426	Prominent nasal bridge
ORPHA:147	CPS1	1373	HP:0001250	Seizures
ORPHA:147	CPS1	1373	HP:0001987	Hyperammonemia
ORPHA:147	CPS1	1373	HP:0003355	Aminoaciduria
ORPHA:147	CPS1	1373	HP:0001951	Episodic ammonia intoxication
ORPHA:147	CPS1	1373	HP:0005961	Hypoargininemia
ORPHA:147	CPS1	1373	HP:0002093	Respiratory insufficiency
ORPHA:147	CPS1	1373	HP:0001252	Muscular hypotonia
OMIM:161200	LMX1B	4010	HP:0000099	Glomerulonephritis
OMIM:161200	LMX1B	4010	HP:0001598	Concave nail
OMIM:161200	LMX1B	4010	HP:0003997	Hypoplastic radial head
OMIM:161200	LMX1B	4010	HP:0000093	Proteinuria
OMIM:161200	LMX1B	4010	HP:0006650	Thickening of the lateral border of the scapula
OMIM:161200	LMX1B	4010	HP:0002414	Spina bifida
OMIM:161200	LMX1B	4010	HP:0000482	Microcornea
OMIM:161200	LMX1B	4010	HP:0001762	Talipes equinovarus
OMIM:161200	LMX1B	4010	HP:0001763	Pes planus
OMIM:161200	LMX1B	4010	HP:0001798	Anonychia
OMIM:161200	LMX1B	4010	HP:0000006	Autosomal dominant inheritance
OMIM:161200	LMX1B	4010	HP:0000100	Nephrotic syndrome
OMIM:161200	LMX1B	4010	HP:0000501	Glaucoma
OMIM:161200	LMX1B	4010	HP:0004209	Clinodactyly of the 5th finger
OMIM:161200	LMX1B	4010	HP:0006633	Glenoid fossa hypoplasia
OMIM:161200	LMX1B	4010	HP:0009760	Antecubital pterygium
OMIM:161200	LMX1B	4010	HP:0009781	Lester's sign
OMIM:161200	LMX1B	4010	HP:0001807	Ridged nail
OMIM:161200	LMX1B	4010	HP:0006657	Hypoplasia of first ribs
OMIM:161200	LMX1B	4010	HP:0000407	Sensorineural hearing impairment
OMIM:161200	LMX1B	4010	HP:0000508	Ptosis
OMIM:161200	LMX1B	4010	HP:0005255	Absence of pectoralis minor muscle
OMIM:161200	LMX1B	4010	HP:0006424	Elongated radius
OMIM:161200	LMX1B	4010	HP:0000767	Pectus excavatum
OMIM:161200	LMX1B	4010	HP:0001032	Absent distal interphalangeal creases
OMIM:161200	LMX1B	4010	HP:0004322	Short stature
OMIM:161200	LMX1B	4010	HP:0002938	Lumbar hyperlordosis
OMIM:161200	LMX1B	4010	HP:0000518	Cataract
OMIM:161200	LMX1B	4010	HP:0009780	Iliac horns
OMIM:161200	LMX1B	4010	HP:0000083	Renal insufficiency
OMIM:161200	LMX1B	4010	HP:0002650	Scoliosis
OMIM:161200	LMX1B	4010	HP:0012376	Microphakia
OMIM:161200	LMX1B	4010	HP:0000563	Keratoconus
OMIM:161200	LMX1B	4010	HP:0001377	Limited elbow extension
OMIM:161200	LMX1B	4010	HP:0006437	Disproportionate prominence of the femoral medial condyle
OMIM:161200	LMX1B	4010	HP:0000204	Cleft upper lip
OMIM:161200	LMX1B	4010	HP:0000790	Hematuria
OMIM:161200	LMX1B	4010	HP:0000175	Cleft palate
OMIM:161200	LMX1B	4010	HP:0002999	Patellar dislocation
OMIM:161200	LMX1B	4010	HP:0009788	Quadriceps aplasia
OMIM:161200	LMX1B	4010	HP:0009783	Biceps aplasia
OMIM:161200	LMX1B	4010	HP:0006443	Patellar aplasia
OMIM:161200	LMX1B	4010	HP:0009785	Triceps aplasia
ORPHA:363400	BSCL2	26580	HP:0002275	Poor motor coordination
ORPHA:363400	BSCL2	26580	HP:0007272	Progressive psychomotor deterioration
ORPHA:363400	BSCL2	26580	HP:0002448	Progressive encephalopathy
ORPHA:363400	BSCL2	26580	HP:0001348	Brisk reflexes
ORPHA:363400	BSCL2	26580	HP:0002360	Sleep disturbance
ORPHA:363400	BSCL2	26580	HP:0007256	Abnormal pyramidal signs
ORPHA:363400	BSCL2	26580	HP:0009064	Generalized lipodystrophy
ORPHA:363400	BSCL2	26580	HP:0003758	Reduced subcutaneous adipose tissue
ORPHA:363400	BSCL2	26580	HP:0000280	Coarse facial features
ORPHA:363400	BSCL2	26580	HP:0001337	Tremor
ORPHA:363400	BSCL2	26580	HP:0002155	Hypertriglyceridemia
ORPHA:363400	BSCL2	26580	HP:0001257	Spasticity
ORPHA:363400	BSCL2	26580	HP:0000842	Hyperinsulinemia
ORPHA:363400	BSCL2	26580	HP:0001336	Myoclonus
ORPHA:363400	BSCL2	26580	HP:0001397	Hepatic steatosis
ORPHA:363400	BSCL2	26580	HP:0025128	Reduced intraabdominal adipose tissue
ORPHA:363400	BSCL2	26580	HP:0000855	Insulin resistance
ORPHA:363400	BSCL2	26580	HP:0000750	Delayed speech and language development
OMIM:180200	RB1	5925	HP:0000175	Cleft palate
OMIM:180200	RB1	5925	HP:0010799	Pinealoma
OMIM:180200	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:180200	RB1	5925	HP:0000555	Leukocoria
OMIM:180200	RB1	5925	HP:0001428	Somatic mutation
OMIM:180200	RB1	5925	HP:0009919	Retinoblastoma
OMIM:180200	RB1	5925	HP:0002669	Osteosarcoma
OMIM:180200	RB1	5925	HP:0012254	Ewing's sarcoma
OMIM:180200	RB1	5925	HP:0007862	Retinal calcification
OMIM:180200	RB1	5925	HP:0003745	Sporadic
OMIM:180200	RB1	5925	HP:0007902	Vitreous hemorrhage
OMIM:180200	RB1	5925	HP:0001909	Leukemia
OMIM:180200	RB1	5925	HP:0002665	Lymphoma
OMIM:614335	MYBPC1	4604	HP:0012385	Camptodactyly
OMIM:614335	MYBPC1	4604	HP:0000006	Autosomal dominant inheritance
OMIM:614335	MYBPC1	4604	HP:0003812	Phenotypic variability
OMIM:614335	MYBPC1	4604	HP:0008366	Contractures involving the joints of the feet
OMIM:614335	MYBPC1	4604	HP:0005684	Distal arthrogryposis
OMIM:614335	MYBPC1	4604	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616394	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:616394	IFT172	26160	HP:0000750	Delayed speech and language development
OMIM:616394	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:616394	IFT172	26160	HP:0001513	Obesity
OMIM:616394	IFT172	26160	HP:0001733	Pancreatitis
OMIM:616394	IFT172	26160	HP:0002910	Elevated hepatic transaminases
OMIM:616394	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:616394	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:616435	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:616435	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:616435	UBE2T	29089	HP:0009778	Short thumb
OMIM:616435	UBE2T	29089	HP:0001903	Anemia
OMIM:616435	UBE2T	29089	HP:0004322	Short stature
OMIM:616435	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:616435	UBE2T	29089	HP:0009942	Duplication of thumb phalanx
OMIM:616435	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:300263	PHF8	23133	HP:0010511	Long toe
OMIM:300263	PHF8	23133	HP:0000276	Long face
OMIM:300263	PHF8	23133	HP:0000336	Prominent supraorbital ridges
OMIM:300263	PHF8	23133	HP:0002942	Thoracic kyphosis
OMIM:300263	PHF8	23133	HP:0000455	Broad nasal tip
OMIM:300263	PHF8	23133	HP:0000664	Synophrys
OMIM:300263	PHF8	23133	HP:0001763	Pes planus
OMIM:300263	PHF8	23133	HP:0000340	Sloping forehead
OMIM:300263	PHF8	23133	HP:0002162	Low posterior hairline
OMIM:300263	PHF8	23133	HP:0001176	Large hands
OMIM:300263	PHF8	23133	HP:0001249	Intellectual disability
OMIM:300263	PHF8	23133	HP:0001419	X-linked recessive inheritance
OMIM:300263	PHF8	23133	HP:0000750	Delayed speech and language development
OMIM:300263	PHF8	23133	HP:0000582	Upslanted palpebral fissure
OMIM:300263	PHF8	23133	HP:0001611	Nasal speech
OMIM:212720	RAB3GAP2	25782	HP:0000518	Cataract
OMIM:212720	RAB3GAP2	25782	HP:0000692	Misalignment of teeth
OMIM:212720	RAB3GAP2	25782	HP:0001831	Short toe
OMIM:212720	RAB3GAP2	25782	HP:0001762	Talipes equinovarus
OMIM:212720	RAB3GAP2	25782	HP:0010049	Short metacarpal
OMIM:212720	RAB3GAP2	25782	HP:0000768	Pectus carinatum
OMIM:212720	RAB3GAP2	25782	HP:0000358	Posteriorly rotated ears
OMIM:212720	RAB3GAP2	25782	HP:0000767	Pectus excavatum
OMIM:212720	RAB3GAP2	25782	HP:0004322	Short stature
OMIM:212720	RAB3GAP2	25782	HP:0005280	Depressed nasal bridge
OMIM:212720	RAB3GAP2	25782	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212720	RAB3GAP2	25782	HP:0000455	Broad nasal tip
OMIM:212720	RAB3GAP2	25782	HP:0002205	Recurrent respiratory infections
OMIM:212720	RAB3GAP2	25782	HP:0000327	Hypoplasia of the maxilla
OMIM:212720	RAB3GAP2	25782	HP:0003992	Slender ulna
OMIM:212720	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
OMIM:212720	RAB3GAP2	25782	HP:0008388	Abnormal toenail morphology
OMIM:212720	RAB3GAP2	25782	HP:0000218	High palate
OMIM:212720	RAB3GAP2	25782	HP:0001638	Cardiomyopathy
OMIM:212720	RAB3GAP2	25782	HP:0002779	Tracheomalacia
OMIM:212720	RAB3GAP2	25782	HP:0004684	Talipes valgus
OMIM:212720	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:212720	RAB3GAP2	25782	HP:0011300	Broad fingertip
OMIM:212720	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:212720	RAB3GAP2	25782	HP:0002938	Lumbar hyperlordosis
OMIM:212720	RAB3GAP2	25782	HP:0009803	Short phalanx of finger
OMIM:212720	RAB3GAP2	25782	HP:0001840	Metatarsus adductus
OMIM:212720	RAB3GAP2	25782	HP:0008872	Feeding difficulties in infancy
OMIM:212720	RAB3GAP2	25782	HP:0004405	Prominent nipples
OMIM:212720	RAB3GAP2	25782	HP:0001635	Congestive heart failure
OMIM:212720	RAB3GAP2	25782	HP:0000322	Short philtrum
OMIM:212720	RAB3GAP2	25782	HP:0000494	Downslanted palpebral fissures
OMIM:212720	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:212720	RAB3GAP2	25782	HP:0000286	Epicanthus
OMIM:212720	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:212720	RAB3GAP2	25782	HP:0000347	Micrognathia
OMIM:212720	RAB3GAP2	25782	HP:0004279	Short palm
OMIM:212720	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:212720	RAB3GAP2	25782	HP:0008593	Prominent antitragus
OMIM:212720	RAB3GAP2	25782	HP:0006887	Intellectual disability, progressive
OMIM:612877	DSG2	1829	HP:0001644	Dilated cardiomyopathy
ORPHA:85294	SYN1	6853	HP:0000718	Aggressive behavior
ORPHA:85294	SYN1	6853	HP:0001250	Seizures
ORPHA:85294	SYN1	6853	HP:0000256	Macrocephaly
ORPHA:85294	SYN1	6853	HP:0001328	Specific learning disability
OMIM:616781	CEP104	9731	HP:0003593	Infantile onset
OMIM:616781	CEP104	9731	HP:0001321	Cerebellar hypoplasia
OMIM:616781	CEP104	9731	HP:0000007	Autosomal recessive inheritance
OMIM:615768	STUB1	10273	HP:0002070	Limb ataxia
OMIM:615768	STUB1	10273	HP:0002317	Unsteady gait
OMIM:615768	STUB1	10273	HP:0001321	Cerebellar hypoplasia
OMIM:615768	STUB1	10273	HP:0003676	Progressive
OMIM:615768	STUB1	10273	HP:0001260	Dysarthria
OMIM:615768	STUB1	10273	HP:0001272	Cerebellar atrophy
OMIM:615768	STUB1	10273	HP:0002078	Truncal ataxia
OMIM:615768	STUB1	10273	HP:0000007	Autosomal recessive inheritance
OMIM:174000	MUC1	4582	HP:0005576	Tubulointerstitial fibrosis
OMIM:174000	MUC1	4582	HP:0000108	Renal corticomedullary cysts
OMIM:174000	MUC1	4582	HP:0000089	Renal hypoplasia
OMIM:174000	MUC1	4582	HP:0002615	Hypotension
OMIM:174000	MUC1	4582	HP:0000096	Glomerulosclerosis
OMIM:174000	MUC1	4582	HP:0000822	Hypertension
OMIM:174000	MUC1	4582	HP:0000006	Autosomal dominant inheritance
OMIM:174000	MUC1	4582	HP:0000092	Tubular atrophy
OMIM:174000	MUC1	4582	HP:0001903	Anemia
OMIM:174000	MUC1	4582	HP:0001970	Tubulointerstitial nephritis
OMIM:174000	MUC1	4582	HP:0003259	Elevated serum creatinine
OMIM:174000	MUC1	4582	HP:0000127	Renal salt wasting
OMIM:174000	MUC1	4582	HP:0003774	Stage 5 chronic kidney disease
OMIM:174000	MUC1	4582	HP:0001997	Gout
OMIM:174000	MUC1	4582	HP:0004732	Impaired renal uric acid clearance
OMIM:174000	MUC1	4582	HP:0003581	Adult onset
OMIM:174000	MUC1	4582	HP:0012213	Decreased glomerular filtration rate
OMIM:174000	MUC1	4582	HP:0002048	Renal cortical atrophy
OMIM:174000	MUC1	4582	HP:0005583	Tubular basement membrane disintegration
OMIM:174000	MUC1	4582	HP:0002120	Cerebral cortical atrophy
OMIM:269600	APOE	348	HP:0001873	Thrombocytopenia
OMIM:269600	APOE	348	HP:0000007	Autosomal recessive inheritance
OMIM:269600	APOE	348	HP:0001394	Cirrhosis
OMIM:269600	APOE	348	HP:0002221	Absent axillary hair
OMIM:269600	APOE	348	HP:0001982	Sea-blue histiocytosis
OMIM:269600	APOE	348	HP:0000478	Abnormality of the eye
OMIM:269600	APOE	348	HP:0001744	Splenomegaly
ORPHA:2309	KRT17	3872	HP:0001805	Thick nail
ORPHA:2309	KRT17	3872	HP:0002745	Oral leukoplakia
ORPHA:2309	KRT17	3872	HP:0008404	Nail dystrophy
ORPHA:2309	KRT17	3872	HP:0008066	Abnormal blistering of the skin
ORPHA:2309	KRT17	3872	HP:0100643	Abnormality of nail color
ORPHA:2309	KRT17	3872	HP:0000975	Hyperhidrosis
ORPHA:2309	KRT17	3872	HP:0008064	Ichthyosis
ORPHA:2309	KRT17	3872	HP:0200035	Skin plaque
ORPHA:2309	KRT17	3872	HP:0000670	Carious teeth
ORPHA:2309	KRT17	3872	HP:0200040	Epidermoid cyst
ORPHA:2309	KRT17	3872	HP:0000982	Palmoplantar keratoderma
ORPHA:2309	KRT16	3868	HP:0001805	Thick nail
ORPHA:2309	KRT16	3868	HP:0002745	Oral leukoplakia
ORPHA:2309	KRT16	3868	HP:0008404	Nail dystrophy
ORPHA:2309	KRT16	3868	HP:0008066	Abnormal blistering of the skin
ORPHA:2309	KRT16	3868	HP:0100643	Abnormality of nail color
ORPHA:2309	KRT16	3868	HP:0000975	Hyperhidrosis
ORPHA:2309	KRT16	3868	HP:0008064	Ichthyosis
ORPHA:2309	KRT16	3868	HP:0200035	Skin plaque
ORPHA:2309	KRT16	3868	HP:0000670	Carious teeth
ORPHA:2309	KRT16	3868	HP:0200040	Epidermoid cyst
ORPHA:2309	KRT16	3868	HP:0000982	Palmoplantar keratoderma
ORPHA:2309	KRT6A	3853	HP:0001805	Thick nail
ORPHA:2309	KRT6A	3853	HP:0002745	Oral leukoplakia
ORPHA:2309	KRT6A	3853	HP:0008404	Nail dystrophy
ORPHA:2309	KRT6A	3853	HP:0008066	Abnormal blistering of the skin
ORPHA:2309	KRT6A	3853	HP:0100643	Abnormality of nail color
ORPHA:2309	KRT6A	3853	HP:0000975	Hyperhidrosis
ORPHA:2309	KRT6A	3853	HP:0008064	Ichthyosis
ORPHA:2309	KRT6A	3853	HP:0200035	Skin plaque
ORPHA:2309	KRT6A	3853	HP:0000670	Carious teeth
ORPHA:2309	KRT6A	3853	HP:0200040	Epidermoid cyst
ORPHA:2309	KRT6A	3853	HP:0000982	Palmoplantar keratoderma
ORPHA:2309	KRT6B	3854	HP:0001805	Thick nail
ORPHA:2309	KRT6B	3854	HP:0002745	Oral leukoplakia
ORPHA:2309	KRT6B	3854	HP:0008404	Nail dystrophy
ORPHA:2309	KRT6B	3854	HP:0008066	Abnormal blistering of the skin
ORPHA:2309	KRT6B	3854	HP:0100643	Abnormality of nail color
ORPHA:2309	KRT6B	3854	HP:0000975	Hyperhidrosis
ORPHA:2309	KRT6B	3854	HP:0008064	Ichthyosis
ORPHA:2309	KRT6B	3854	HP:0200035	Skin plaque
ORPHA:2309	KRT6B	3854	HP:0000670	Carious teeth
ORPHA:2309	KRT6B	3854	HP:0200040	Epidermoid cyst
ORPHA:2309	KRT6B	3854	HP:0000982	Palmoplantar keratoderma
OMIM:616270	AMBN	258	HP:0011073	Abnormality of dental color
OMIM:616270	AMBN	258	HP:0006297	Hypoplasia of dental enamel
OMIM:616270	AMBN	258	HP:0000007	Autosomal recessive inheritance
OMIM:616270	AMBN	258	HP:0009722	Dental enamel pits
OMIM:616270	AMBN	258	HP:0000705	Amelogenesis imperfecta
OMIM:263520	NEK1	4750	HP:0000062	Ambiguous genitalia
OMIM:263520	NEK1	4750	HP:0001789	Hydrops fetalis
OMIM:263520	NEK1	4750	HP:0000895	Lateral clavicle hook
OMIM:263520	NEK1	4750	HP:0005766	Disproportionate shortening of the tibia
OMIM:263520	NEK1	4750	HP:0002089	Pulmonary hypoplasia
OMIM:263520	NEK1	4750	HP:0005873	Polysyndactyly of hallux
OMIM:263520	NEK1	4750	HP:0000161	Median cleft lip
OMIM:263520	NEK1	4750	HP:0005349	Hypoplasia of the epiglottis
OMIM:263520	NEK1	4750	HP:0000007	Autosomal recessive inheritance
OMIM:263520	NEK1	4750	HP:0005817	Postaxial polysyndactyly of foot
OMIM:263520	NEK1	4750	HP:0001177	Preaxial hand polydactyly
OMIM:263520	NEK1	4750	HP:0000773	Short ribs
OMIM:263520	NEK1	4750	HP:0001162	Postaxial hand polydactyly
OMIM:263520	NEK1	4750	HP:0010984	Digenic inheritance
OMIM:263520	NEK1	4750	HP:0000774	Narrow chest
OMIM:263520	NEK1	4750	HP:0006644	Thoracic dysplasia
OMIM:263520	NEK1	4750	HP:0000113	Polycystic kidney dysplasia
OMIM:263520	NEK1	4750	HP:0000175	Cleft palate
OMIM:263520	NEK1	4750	HP:0000888	Horizontal ribs
OMIM:263520	NEK1	4750	HP:0011802	Hamartoma of tongue
ORPHA:1231	TWIST2	117581	HP:0002557	Hypoplastic nipples
ORPHA:1231	TWIST2	117581	HP:0200102	Sparse or absent eyelashes
ORPHA:1231	TWIST2	117581	HP:0000656	Ectropion
ORPHA:1231	TWIST2	117581	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:1231	TWIST2	117581	HP:0000974	Hyperextensible skin
ORPHA:1231	TWIST2	117581	HP:0000316	Hypertelorism
ORPHA:1231	TWIST2	117581	HP:0001508	Failure to thrive
ORPHA:1231	TWIST2	117581	HP:0000365	Hearing impairment
ORPHA:1231	TWIST2	117581	HP:0000414	Bulbous nose
ORPHA:1231	TWIST2	117581	HP:0001582	Redundant skin
ORPHA:1231	TWIST2	117581	HP:0000463	Anteverted nares
ORPHA:1231	TWIST2	117581	HP:0002230	Generalized hirsutism
ORPHA:1231	TWIST2	117581	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:1231	TWIST2	117581	HP:0100783	Breast aplasia
ORPHA:1231	TWIST2	117581	HP:0000154	Wide mouth
ORPHA:1231	TWIST2	117581	HP:0000684	Delayed eruption of teeth
ORPHA:1231	TWIST2	117581	HP:0000506	Telecanthus
ORPHA:1231	TWIST2	117581	HP:0000431	Wide nasal bridge
OMIM:617056	SEC61A1	29927	HP:0000097	Focal segmental glomerulosclerosis
OMIM:617056	SEC61A1	29927	HP:0100543	Cognitive impairment
OMIM:617056	SEC61A1	29927	HP:0001903	Anemia
OMIM:617056	SEC61A1	29927	HP:0000107	Renal cyst
OMIM:617056	SEC61A1	29927	HP:0000006	Autosomal dominant inheritance
OMIM:617056	SEC61A1	29927	HP:0003676	Progressive
OMIM:617056	SEC61A1	29927	HP:0001875	Neutropenia
OMIM:617056	SEC61A1	29927	HP:0001997	Gout
OMIM:617056	SEC61A1	29927	HP:0004322	Short stature
OMIM:617056	SEC61A1	29927	HP:0012622	Chronic kidney disease
OMIM:617056	SEC61A1	29927	HP:0000112	Nephropathy
OMIM:617056	SEC61A1	29927	HP:0001511	Intrauterine growth retardation
ORPHA:808	ATR	545	HP:0000252	Microcephaly
ORPHA:808	ATR	545	HP:0000347	Micrognathia
ORPHA:808	ATR	545	HP:0000501	Glaucoma
ORPHA:808	ATR	545	HP:0005692	Joint hyperflexibility
ORPHA:808	ATR	545	HP:0100543	Cognitive impairment
ORPHA:808	ATR	545	HP:0001363	Craniosynostosis
ORPHA:808	ATR	545	HP:0004326	Cachexia
ORPHA:808	ATR	545	HP:0000275	Narrow face
ORPHA:808	ATR	545	HP:0002209	Sparse scalp hair
ORPHA:808	ATR	545	HP:0000444	Convex nasal ridge
ORPHA:808	ATR	545	HP:0011342	Mild global developmental delay
ORPHA:808	ATR	545	HP:0001385	Hip dysplasia
ORPHA:808	ATR	545	HP:0010579	Cone-shaped epiphysis
ORPHA:808	ATR	545	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	ATR	545	HP:0009804	Reduced number of teeth
ORPHA:808	ATR	545	HP:0002750	Delayed skeletal maturation
ORPHA:808	ATR	545	HP:0000682	Abnormality of dental enamel
ORPHA:808	ATR	545	HP:0001249	Intellectual disability
ORPHA:808	ATR	545	HP:0001852	Sandal gap
ORPHA:808	ATR	545	HP:0000387	Absent earlobe
ORPHA:808	ATR	545	HP:0001511	Intrauterine growth retardation
ORPHA:808	ATR	545	HP:0004322	Short stature
ORPHA:808	ATR	545	HP:0000494	Downslanted palpebral fissures
ORPHA:808	ATR	545	HP:0007495	Prematurely aged appearance
ORPHA:808	CEP152	22995	HP:0000252	Microcephaly
ORPHA:808	CEP152	22995	HP:0000347	Micrognathia
ORPHA:808	CEP152	22995	HP:0000501	Glaucoma
ORPHA:808	CEP152	22995	HP:0005692	Joint hyperflexibility
ORPHA:808	CEP152	22995	HP:0100543	Cognitive impairment
ORPHA:808	CEP152	22995	HP:0001363	Craniosynostosis
ORPHA:808	CEP152	22995	HP:0004326	Cachexia
ORPHA:808	CEP152	22995	HP:0000275	Narrow face
ORPHA:808	CEP152	22995	HP:0002209	Sparse scalp hair
ORPHA:808	CEP152	22995	HP:0000444	Convex nasal ridge
ORPHA:808	CEP152	22995	HP:0011342	Mild global developmental delay
ORPHA:808	CEP152	22995	HP:0001385	Hip dysplasia
ORPHA:808	CEP152	22995	HP:0010579	Cone-shaped epiphysis
ORPHA:808	CEP152	22995	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	CEP152	22995	HP:0009804	Reduced number of teeth
ORPHA:808	CEP152	22995	HP:0002750	Delayed skeletal maturation
ORPHA:808	CEP152	22995	HP:0000682	Abnormality of dental enamel
ORPHA:808	CEP152	22995	HP:0001249	Intellectual disability
ORPHA:808	CEP152	22995	HP:0001852	Sandal gap
ORPHA:808	CEP152	22995	HP:0000387	Absent earlobe
ORPHA:808	CEP152	22995	HP:0001511	Intrauterine growth retardation
ORPHA:808	CEP152	22995	HP:0004322	Short stature
ORPHA:808	CEP152	22995	HP:0000494	Downslanted palpebral fissures
ORPHA:808	CEP152	22995	HP:0007495	Prematurely aged appearance
ORPHA:808	TRAIP	10293	HP:0000252	Microcephaly
ORPHA:808	TRAIP	10293	HP:0000347	Micrognathia
ORPHA:808	TRAIP	10293	HP:0000501	Glaucoma
ORPHA:808	TRAIP	10293	HP:0005692	Joint hyperflexibility
ORPHA:808	TRAIP	10293	HP:0100543	Cognitive impairment
ORPHA:808	TRAIP	10293	HP:0001363	Craniosynostosis
ORPHA:808	TRAIP	10293	HP:0004326	Cachexia
ORPHA:808	TRAIP	10293	HP:0000275	Narrow face
ORPHA:808	TRAIP	10293	HP:0002209	Sparse scalp hair
ORPHA:808	TRAIP	10293	HP:0000444	Convex nasal ridge
ORPHA:808	TRAIP	10293	HP:0011342	Mild global developmental delay
ORPHA:808	TRAIP	10293	HP:0001385	Hip dysplasia
ORPHA:808	TRAIP	10293	HP:0010579	Cone-shaped epiphysis
ORPHA:808	TRAIP	10293	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	TRAIP	10293	HP:0009804	Reduced number of teeth
ORPHA:808	TRAIP	10293	HP:0002750	Delayed skeletal maturation
ORPHA:808	TRAIP	10293	HP:0000682	Abnormality of dental enamel
ORPHA:808	TRAIP	10293	HP:0001249	Intellectual disability
ORPHA:808	TRAIP	10293	HP:0001852	Sandal gap
ORPHA:808	TRAIP	10293	HP:0000387	Absent earlobe
ORPHA:808	TRAIP	10293	HP:0001511	Intrauterine growth retardation
ORPHA:808	TRAIP	10293	HP:0004322	Short stature
ORPHA:808	TRAIP	10293	HP:0000494	Downslanted palpebral fissures
ORPHA:808	TRAIP	10293	HP:0007495	Prematurely aged appearance
ORPHA:808	CENPE	1062	HP:0000252	Microcephaly
ORPHA:808	CENPE	1062	HP:0000347	Micrognathia
ORPHA:808	CENPE	1062	HP:0000501	Glaucoma
ORPHA:808	CENPE	1062	HP:0005692	Joint hyperflexibility
ORPHA:808	CENPE	1062	HP:0100543	Cognitive impairment
ORPHA:808	CENPE	1062	HP:0001363	Craniosynostosis
ORPHA:808	CENPE	1062	HP:0004326	Cachexia
ORPHA:808	CENPE	1062	HP:0000275	Narrow face
ORPHA:808	CENPE	1062	HP:0002209	Sparse scalp hair
ORPHA:808	CENPE	1062	HP:0000444	Convex nasal ridge
ORPHA:808	CENPE	1062	HP:0011342	Mild global developmental delay
ORPHA:808	CENPE	1062	HP:0001385	Hip dysplasia
ORPHA:808	CENPE	1062	HP:0010579	Cone-shaped epiphysis
ORPHA:808	CENPE	1062	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	CENPE	1062	HP:0009804	Reduced number of teeth
ORPHA:808	CENPE	1062	HP:0002750	Delayed skeletal maturation
ORPHA:808	CENPE	1062	HP:0000682	Abnormality of dental enamel
ORPHA:808	CENPE	1062	HP:0001249	Intellectual disability
ORPHA:808	CENPE	1062	HP:0001852	Sandal gap
ORPHA:808	CENPE	1062	HP:0000387	Absent earlobe
ORPHA:808	CENPE	1062	HP:0001511	Intrauterine growth retardation
ORPHA:808	CENPE	1062	HP:0004322	Short stature
ORPHA:808	CENPE	1062	HP:0000494	Downslanted palpebral fissures
ORPHA:808	CENPE	1062	HP:0007495	Prematurely aged appearance
ORPHA:808	CENPJ	55835	HP:0000252	Microcephaly
ORPHA:808	CENPJ	55835	HP:0000347	Micrognathia
ORPHA:808	CENPJ	55835	HP:0000501	Glaucoma
ORPHA:808	CENPJ	55835	HP:0005692	Joint hyperflexibility
ORPHA:808	CENPJ	55835	HP:0100543	Cognitive impairment
ORPHA:808	CENPJ	55835	HP:0001363	Craniosynostosis
ORPHA:808	CENPJ	55835	HP:0004326	Cachexia
ORPHA:808	CENPJ	55835	HP:0000275	Narrow face
ORPHA:808	CENPJ	55835	HP:0002209	Sparse scalp hair
ORPHA:808	CENPJ	55835	HP:0000444	Convex nasal ridge
ORPHA:808	CENPJ	55835	HP:0011342	Mild global developmental delay
ORPHA:808	CENPJ	55835	HP:0001385	Hip dysplasia
ORPHA:808	CENPJ	55835	HP:0010579	Cone-shaped epiphysis
ORPHA:808	CENPJ	55835	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	CENPJ	55835	HP:0009804	Reduced number of teeth
ORPHA:808	CENPJ	55835	HP:0002750	Delayed skeletal maturation
ORPHA:808	CENPJ	55835	HP:0000682	Abnormality of dental enamel
ORPHA:808	CENPJ	55835	HP:0001249	Intellectual disability
ORPHA:808	CENPJ	55835	HP:0001852	Sandal gap
ORPHA:808	CENPJ	55835	HP:0000387	Absent earlobe
ORPHA:808	CENPJ	55835	HP:0001511	Intrauterine growth retardation
ORPHA:808	CENPJ	55835	HP:0004322	Short stature
ORPHA:808	CENPJ	55835	HP:0000494	Downslanted palpebral fissures
ORPHA:808	CENPJ	55835	HP:0007495	Prematurely aged appearance
ORPHA:808	PCNT	5116	HP:0000252	Microcephaly
ORPHA:808	PCNT	5116	HP:0000347	Micrognathia
ORPHA:808	PCNT	5116	HP:0000501	Glaucoma
ORPHA:808	PCNT	5116	HP:0005692	Joint hyperflexibility
ORPHA:808	PCNT	5116	HP:0100543	Cognitive impairment
ORPHA:808	PCNT	5116	HP:0001363	Craniosynostosis
ORPHA:808	PCNT	5116	HP:0004326	Cachexia
ORPHA:808	PCNT	5116	HP:0000275	Narrow face
ORPHA:808	PCNT	5116	HP:0002209	Sparse scalp hair
ORPHA:808	PCNT	5116	HP:0000444	Convex nasal ridge
ORPHA:808	PCNT	5116	HP:0011342	Mild global developmental delay
ORPHA:808	PCNT	5116	HP:0001385	Hip dysplasia
ORPHA:808	PCNT	5116	HP:0010579	Cone-shaped epiphysis
ORPHA:808	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	PCNT	5116	HP:0009804	Reduced number of teeth
ORPHA:808	PCNT	5116	HP:0002750	Delayed skeletal maturation
ORPHA:808	PCNT	5116	HP:0000682	Abnormality of dental enamel
ORPHA:808	PCNT	5116	HP:0001249	Intellectual disability
ORPHA:808	PCNT	5116	HP:0001852	Sandal gap
ORPHA:808	PCNT	5116	HP:0000387	Absent earlobe
ORPHA:808	PCNT	5116	HP:0001511	Intrauterine growth retardation
ORPHA:808	PCNT	5116	HP:0004322	Short stature
ORPHA:808	PCNT	5116	HP:0000494	Downslanted palpebral fissures
ORPHA:808	PCNT	5116	HP:0007495	Prematurely aged appearance
ORPHA:808	RBBP8	5932	HP:0000252	Microcephaly
ORPHA:808	RBBP8	5932	HP:0000347	Micrognathia
ORPHA:808	RBBP8	5932	HP:0000501	Glaucoma
ORPHA:808	RBBP8	5932	HP:0005692	Joint hyperflexibility
ORPHA:808	RBBP8	5932	HP:0100543	Cognitive impairment
ORPHA:808	RBBP8	5932	HP:0001363	Craniosynostosis
ORPHA:808	RBBP8	5932	HP:0004326	Cachexia
ORPHA:808	RBBP8	5932	HP:0000275	Narrow face
ORPHA:808	RBBP8	5932	HP:0002209	Sparse scalp hair
ORPHA:808	RBBP8	5932	HP:0000444	Convex nasal ridge
ORPHA:808	RBBP8	5932	HP:0011342	Mild global developmental delay
ORPHA:808	RBBP8	5932	HP:0001385	Hip dysplasia
ORPHA:808	RBBP8	5932	HP:0010579	Cone-shaped epiphysis
ORPHA:808	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	RBBP8	5932	HP:0009804	Reduced number of teeth
ORPHA:808	RBBP8	5932	HP:0002750	Delayed skeletal maturation
ORPHA:808	RBBP8	5932	HP:0000682	Abnormality of dental enamel
ORPHA:808	RBBP8	5932	HP:0001249	Intellectual disability
ORPHA:808	RBBP8	5932	HP:0001852	Sandal gap
ORPHA:808	RBBP8	5932	HP:0000387	Absent earlobe
ORPHA:808	RBBP8	5932	HP:0001511	Intrauterine growth retardation
ORPHA:808	RBBP8	5932	HP:0004322	Short stature
ORPHA:808	RBBP8	5932	HP:0000494	Downslanted palpebral fissures
ORPHA:808	RBBP8	5932	HP:0007495	Prematurely aged appearance
ORPHA:808	PLK4	10733	HP:0000252	Microcephaly
ORPHA:808	PLK4	10733	HP:0000347	Micrognathia
ORPHA:808	PLK4	10733	HP:0000501	Glaucoma
ORPHA:808	PLK4	10733	HP:0005692	Joint hyperflexibility
ORPHA:808	PLK4	10733	HP:0100543	Cognitive impairment
ORPHA:808	PLK4	10733	HP:0001363	Craniosynostosis
ORPHA:808	PLK4	10733	HP:0004326	Cachexia
ORPHA:808	PLK4	10733	HP:0000275	Narrow face
ORPHA:808	PLK4	10733	HP:0002209	Sparse scalp hair
ORPHA:808	PLK4	10733	HP:0000444	Convex nasal ridge
ORPHA:808	PLK4	10733	HP:0011342	Mild global developmental delay
ORPHA:808	PLK4	10733	HP:0001385	Hip dysplasia
ORPHA:808	PLK4	10733	HP:0010579	Cone-shaped epiphysis
ORPHA:808	PLK4	10733	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	PLK4	10733	HP:0009804	Reduced number of teeth
ORPHA:808	PLK4	10733	HP:0002750	Delayed skeletal maturation
ORPHA:808	PLK4	10733	HP:0000682	Abnormality of dental enamel
ORPHA:808	PLK4	10733	HP:0001249	Intellectual disability
ORPHA:808	PLK4	10733	HP:0001852	Sandal gap
ORPHA:808	PLK4	10733	HP:0000387	Absent earlobe
ORPHA:808	PLK4	10733	HP:0001511	Intrauterine growth retardation
ORPHA:808	PLK4	10733	HP:0004322	Short stature
ORPHA:808	PLK4	10733	HP:0000494	Downslanted palpebral fissures
ORPHA:808	PLK4	10733	HP:0007495	Prematurely aged appearance
ORPHA:808	ATRIP	84126	HP:0000252	Microcephaly
ORPHA:808	ATRIP	84126	HP:0000347	Micrognathia
ORPHA:808	ATRIP	84126	HP:0000501	Glaucoma
ORPHA:808	ATRIP	84126	HP:0005692	Joint hyperflexibility
ORPHA:808	ATRIP	84126	HP:0100543	Cognitive impairment
ORPHA:808	ATRIP	84126	HP:0001363	Craniosynostosis
ORPHA:808	ATRIP	84126	HP:0004326	Cachexia
ORPHA:808	ATRIP	84126	HP:0000275	Narrow face
ORPHA:808	ATRIP	84126	HP:0002209	Sparse scalp hair
ORPHA:808	ATRIP	84126	HP:0000444	Convex nasal ridge
ORPHA:808	ATRIP	84126	HP:0011342	Mild global developmental delay
ORPHA:808	ATRIP	84126	HP:0001385	Hip dysplasia
ORPHA:808	ATRIP	84126	HP:0010579	Cone-shaped epiphysis
ORPHA:808	ATRIP	84126	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	ATRIP	84126	HP:0009804	Reduced number of teeth
ORPHA:808	ATRIP	84126	HP:0002750	Delayed skeletal maturation
ORPHA:808	ATRIP	84126	HP:0000682	Abnormality of dental enamel
ORPHA:808	ATRIP	84126	HP:0001249	Intellectual disability
ORPHA:808	ATRIP	84126	HP:0001852	Sandal gap
ORPHA:808	ATRIP	84126	HP:0000387	Absent earlobe
ORPHA:808	ATRIP	84126	HP:0001511	Intrauterine growth retardation
ORPHA:808	ATRIP	84126	HP:0004322	Short stature
ORPHA:808	ATRIP	84126	HP:0000494	Downslanted palpebral fissures
ORPHA:808	ATRIP	84126	HP:0007495	Prematurely aged appearance
OMIM:614279	AKR1C2	1646	HP:0000007	Autosomal recessive inheritance
OMIM:614279	AKR1C2	1646	HP:0000037	Male pseudohermaphroditism
OMIM:614279	AKR1C2	1646	HP:0000028	Cryptorchidism
OMIM:614279	AKR1C2	1646	HP:0012245	Sex reversal
OMIM:614279	AKR1C2	1646	HP:0000062	Ambiguous genitalia
OMIM:611497	PLEKHM1	9842	HP:0100959	Dense metaphyseal bands
OMIM:611497	PLEKHM1	9842	HP:0004975	Erlenmeyer flask deformity of the femurs
OMIM:611497	PLEKHM1	9842	HP:0011002	Osteopetrosis
OMIM:611497	PLEKHM1	9842	HP:0000007	Autosomal recessive inheritance
ORPHA:79299	GCK	2645	HP:0012378	Fatigue
ORPHA:79299	GCK	2645	HP:0008283	Fasting hyperinsulinemia
ORPHA:79299	GCK	2645	HP:0000825	Hyperinsulinemic hypoglycemia
ORPHA:79299	GCK	2645	HP:0002378	Hand tremor
ORPHA:79299	GCK	2645	HP:0001988	Recurrent hypoglycemia
ORPHA:79299	GCK	2645	HP:0001985	Hypoketotic hypoglycemia
ORPHA:79299	GCK	2645	HP:0001250	Seizures
ORPHA:79299	GCK	2645	HP:0001324	Muscle weakness
ORPHA:79299	GCK	2645	HP:0030794	Abnormal C-peptide level
ORPHA:915	FGD1	2245	HP:0000343	Long philtrum
ORPHA:915	FGD1	2245	HP:0004279	Short palm
ORPHA:915	FGD1	2245	HP:0000508	Ptosis
ORPHA:915	FGD1	2245	HP:0000463	Anteverted nares
ORPHA:915	FGD1	2245	HP:0000049	Shawl scrotum
ORPHA:915	FGD1	2245	HP:0100543	Cognitive impairment
ORPHA:915	FGD1	2245	HP:0000974	Hyperextensible skin
ORPHA:915	FGD1	2245	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:915	FGD1	2245	HP:0200055	Small hand
ORPHA:915	FGD1	2245	HP:0005692	Joint hyperflexibility
ORPHA:915	FGD1	2245	HP:0000431	Wide nasal bridge
ORPHA:915	FGD1	2245	HP:0001537	Umbilical hernia
ORPHA:915	FGD1	2245	HP:0001773	Short foot
ORPHA:915	FGD1	2245	HP:0004322	Short stature
ORPHA:915	FGD1	2245	HP:0001769	Broad foot
ORPHA:915	FGD1	2245	HP:0000232	Everted lower lip vermilion
ORPHA:915	FGD1	2245	HP:0100490	Camptodactyly of finger
ORPHA:915	FGD1	2245	HP:0000023	Inguinal hernia
ORPHA:915	FGD1	2245	HP:0000316	Hypertelorism
ORPHA:915	FGD1	2245	HP:0001169	Broad palm
ORPHA:915	FGD1	2245	HP:0006101	Finger syndactyly
ORPHA:915	FGD1	2245	HP:0008572	External ear malformation
ORPHA:915	FGD1	2245	HP:0000028	Cryptorchidism
ORPHA:915	FGD1	2245	HP:0004209	Clinodactyly of the 5th finger
ORPHA:915	FGD1	2245	HP:0000494	Downslanted palpebral fissures
ORPHA:915	FGD1	2245	HP:0009890	High anterior hairline
ORPHA:915	FGD1	2245	HP:0000337	Broad forehead
ORPHA:585	SUMF1	285362	HP:0000256	Macrocephaly
ORPHA:585	SUMF1	285362	HP:0000463	Anteverted nares
ORPHA:585	SUMF1	285362	HP:0004322	Short stature
ORPHA:585	SUMF1	285362	HP:0001387	Joint stiffness
ORPHA:585	SUMF1	285362	HP:0001263	Global developmental delay
ORPHA:585	SUMF1	285362	HP:0000574	Thick eyebrow
ORPHA:585	SUMF1	285362	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:585	SUMF1	285362	HP:0000280	Coarse facial features
ORPHA:585	SUMF1	285362	HP:0002208	Coarse hair
ORPHA:585	SUMF1	285362	HP:0008064	Ichthyosis
ORPHA:585	SUMF1	285362	HP:0000518	Cataract
ORPHA:585	SUMF1	285362	HP:0000648	Optic atrophy
ORPHA:585	SUMF1	285362	HP:0001319	Neonatal hypotonia
ORPHA:585	SUMF1	285362	HP:0001744	Splenomegaly
ORPHA:585	SUMF1	285362	HP:0002240	Hepatomegaly
ORPHA:585	SUMF1	285362	HP:0000407	Sensorineural hearing impairment
ORPHA:585	SUMF1	285362	HP:0000505	Visual impairment
ORPHA:585	SUMF1	285362	HP:0001250	Seizures
ORPHA:585	SUMF1	285362	HP:0002376	Developmental regression
ORPHA:585	SUMF1	285362	HP:0011304	Broad thumb
ORPHA:585	SUMF1	285362	HP:0007957	Corneal opacity
ORPHA:585	SUMF1	285362	HP:0000319	Smooth philtrum
ORPHA:585	SUMF1	285362	HP:0001249	Intellectual disability
ORPHA:585	SUMF1	285362	HP:0008155	Mucopolysacchariduria
ORPHA:585	SUMF1	285362	HP:0007703	Abnormality of retinal pigmentation
ORPHA:585	SUMF1	285362	HP:0000238	Hydrocephalus
ORPHA:585	SUMF1	285362	HP:0005280	Depressed nasal bridge
ORPHA:585	SUMF1	285362	HP:0010059	Broad hallux phalanx
ORPHA:585	SUMF1	285362	HP:0007307	Rapid neurologic deterioration
ORPHA:1040	MMP13	4322	HP:0006487	Bowing of the long bones
ORPHA:1040	MMP13	4322	HP:0004322	Short stature
ORPHA:1040	MMP13	4322	HP:0002814	Abnormality of the lower limb
ORPHA:1040	MMP13	4322	HP:0001387	Joint stiffness
ORPHA:1040	MMP13	4322	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1040	MMP13	4322	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1040	MMP13	4322	HP:0004039	Abnormality of ulnar metaphysis
ORPHA:1040	MMP9	4318	HP:0006487	Bowing of the long bones
ORPHA:1040	MMP9	4318	HP:0004322	Short stature
ORPHA:1040	MMP9	4318	HP:0002814	Abnormality of the lower limb
ORPHA:1040	MMP9	4318	HP:0001387	Joint stiffness
ORPHA:1040	MMP9	4318	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1040	MMP9	4318	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:1040	MMP9	4318	HP:0004039	Abnormality of ulnar metaphysis
OMIM:277950	MMP14	4323	HP:0000280	Coarse facial features
OMIM:277950	MMP14	4323	HP:0045039	Osteolysis involving bones of the upper limbs
OMIM:277950	MMP14	4323	HP:0040160	Generalized osteoporosis
OMIM:277950	MMP14	4323	HP:0009134	Osteolysis involving bones of the feet
OMIM:277950	MMP14	4323	HP:0007957	Corneal opacity
OMIM:277950	MMP14	4323	HP:0003040	Arthropathy
OMIM:277950	MMP14	4323	HP:0000212	Gingival overgrowth
OMIM:610717	PNPLA2	57104	HP:0003391	Gowers sign
OMIM:610717	PNPLA2	57104	HP:0009046	Difficulty running
OMIM:610717	PNPLA2	57104	HP:0003198	Myopathy
OMIM:610717	PNPLA2	57104	HP:0002380	Fasciculations
OMIM:610717	PNPLA2	57104	HP:0003701	Proximal muscle weakness
OMIM:610717	PNPLA2	57104	HP:0002910	Elevated hepatic transaminases
OMIM:610717	PNPLA2	57104	HP:0001397	Hepatic steatosis
OMIM:610717	PNPLA2	57104	HP:0003326	Myalgia
OMIM:610717	PNPLA2	57104	HP:0003677	Slow progression
OMIM:610717	PNPLA2	57104	HP:0003546	Exercise intolerance
OMIM:610717	PNPLA2	57104	HP:0000007	Autosomal recessive inheritance
OMIM:610717	PNPLA2	57104	HP:0001290	Generalized hypotonia
OMIM:610717	PNPLA2	57104	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610717	PNPLA2	57104	HP:0002355	Difficulty walking
OMIM:610717	PNPLA2	57104	HP:0003828	Variable expressivity
OMIM:610717	PNPLA2	57104	HP:0003581	Adult onset
OMIM:610717	PNPLA2	57104	HP:0009058	Increased muscle lipid content
OMIM:610717	PNPLA2	57104	HP:0002240	Hepatomegaly
OMIM:610717	PNPLA2	57104	HP:0003388	Easy fatigability
OMIM:616882	PER3	8863	HP:0000006	Autosomal dominant inheritance
OMIM:616882	PER3	8863	HP:0000716	Depressivity
OMIM:313200	AR	367	HP:0000144	Decreased fertility
OMIM:313200	AR	367	HP:0001283	Bulbar palsy
OMIM:313200	AR	367	HP:0001260	Dysarthria
OMIM:313200	AR	367	HP:0002380	Fasciculations
OMIM:313200	AR	367	HP:0003690	Limb muscle weakness
OMIM:313200	AR	367	HP:0000029	Testicular atrophy
OMIM:313200	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:313200	AR	367	HP:0002015	Dysphagia
OMIM:313200	AR	367	HP:0003677	Slow progression
OMIM:313200	AR	367	HP:0000763	Sensory neuropathy
OMIM:313200	AR	367	HP:0003394	Muscle cramps
OMIM:313200	AR	367	HP:0001265	Hyporeflexia
OMIM:313200	AR	367	HP:0000153	Abnormality of the mouth
OMIM:313200	AR	367	HP:0001337	Tremor
OMIM:313200	AR	367	HP:0009830	Peripheral neuropathy
OMIM:313200	AR	367	HP:0000771	Gynecomastia
OMIM:313200	AR	367	HP:0003581	Adult onset
OMIM:313200	AR	367	HP:0008981	Calf muscle hypertrophy
OMIM:313200	AR	367	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612379	SRD5A3	79644	HP:0000572	Visual loss
OMIM:612379	SRD5A3	79644	HP:0001270	Motor delay
OMIM:612379	SRD5A3	79644	HP:0000369	Low-set ears
OMIM:612379	SRD5A3	79644	HP:0000964	Eczema
OMIM:612379	SRD5A3	79644	HP:0001935	Microcytic anemia
OMIM:612379	SRD5A3	79644	HP:0001290	Generalized hypotonia
OMIM:612379	SRD5A3	79644	HP:0005280	Depressed nasal bridge
OMIM:612379	SRD5A3	79644	HP:0001976	Reduced antithrombin III activity
OMIM:612379	SRD5A3	79644	HP:0002126	Polymicrogyria
OMIM:612379	SRD5A3	79644	HP:0003642	Type I transferrin isoform profile
OMIM:612379	SRD5A3	79644	HP:0000998	Hypertrichosis
OMIM:612379	SRD5A3	79644	HP:0000639	Nystagmus
OMIM:612379	SRD5A3	79644	HP:0000973	Cutis laxa
OMIM:612379	SRD5A3	79644	HP:0003593	Infantile onset
OMIM:612379	SRD5A3	79644	HP:0001000	Abnormality of skin pigmentation
OMIM:612379	SRD5A3	79644	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612379	SRD5A3	79644	HP:0000962	Hyperkeratosis
OMIM:612379	SRD5A3	79644	HP:0002910	Elevated hepatic transaminases
OMIM:612379	SRD5A3	79644	HP:0000589	Coloboma
OMIM:612379	SRD5A3	79644	HP:0001249	Intellectual disability
OMIM:612379	SRD5A3	79644	HP:0008064	Ichthyosis
OMIM:612379	SRD5A3	79644	HP:0000316	Hypertelorism
OMIM:612379	SRD5A3	79644	HP:0000007	Autosomal recessive inheritance
OMIM:612379	SRD5A3	79644	HP:0000248	Brachycephaly
OMIM:184460	NOG	9241	HP:0003189	Long nose
OMIM:184460	NOG	9241	HP:0009882	Short distal phalanx of finger
OMIM:184460	NOG	9241	HP:0001770	Toe syndactyly
OMIM:184460	NOG	9241	HP:0000405	Conductive hearing impairment
OMIM:184460	NOG	9241	HP:0011304	Broad thumb
OMIM:184460	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:184460	NOG	9241	HP:0000430	Underdeveloped nasal alae
OMIM:184460	NOG	9241	HP:0007943	Congenital stapes ankylosis
OMIM:184460	NOG	9241	HP:0009177	Proximal/middle symphalangism of 5th finger
OMIM:184460	NOG	9241	HP:0000540	Hypermetropia
OMIM:184460	NOG	9241	HP:0010055	Broad hallux
OMIM:184460	NOG	9241	HP:0009765	Low hanging columella
OMIM:184460	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:217000	C2	717	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C2	717	HP:0000979	Purpura
OMIM:217000	C2	717	HP:0002725	Systemic lupus erythematosus
ORPHA:73273	IGF1R	3480	HP:0000252	Microcephaly
ORPHA:73273	IGF1R	3480	HP:0000319	Smooth philtrum
ORPHA:73273	IGF1R	3480	HP:0000767	Pectus excavatum
ORPHA:73273	IGF1R	3480	HP:0000233	Thin vermilion border
ORPHA:73273	IGF1R	3480	HP:0000455	Broad nasal tip
ORPHA:73273	IGF1R	3480	HP:0030084	Clinodactyly
ORPHA:73273	IGF1R	3480	HP:0001249	Intellectual disability
ORPHA:73273	IGF1R	3480	HP:0004322	Short stature
ORPHA:73273	IGF1R	3480	HP:0000232	Everted lower lip vermilion
ORPHA:73273	IGF1R	3480	HP:0000431	Wide nasal bridge
ORPHA:73273	IGF1R	3480	HP:0004279	Short palm
ORPHA:73273	IGF1R	3480	HP:0002750	Delayed skeletal maturation
ORPHA:73273	IGF1R	3480	HP:0001270	Motor delay
ORPHA:73273	IGF1R	3480	HP:0006610	Wide intermamillary distance
ORPHA:73273	IGF1R	3480	HP:0001511	Intrauterine growth retardation
OMIM:274000	RBM8A	9939	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:274000	RBM8A	9939	HP:0004977	Bilateral radial aplasia
OMIM:274000	RBM8A	9939	HP:0001629	Ventricular septal defect
OMIM:274000	RBM8A	9939	HP:0000248	Brachycephaly
OMIM:274000	RBM8A	9939	HP:0011304	Broad thumb
OMIM:274000	RBM8A	9939	HP:0000347	Micrognathia
OMIM:274000	RBM8A	9939	HP:0001880	Eosinophilia
OMIM:274000	RBM8A	9939	HP:0004209	Clinodactyly of the 5th finger
OMIM:274000	RBM8A	9939	HP:0000085	Horseshoe kidney
OMIM:274000	RBM8A	9939	HP:0000463	Anteverted nares
OMIM:274000	RBM8A	9939	HP:0008952	Shoulder muscle hypoplasia
OMIM:274000	RBM8A	9939	HP:0002245	Meckel diverticulum
OMIM:274000	RBM8A	9939	HP:0001250	Seizures
OMIM:274000	RBM8A	9939	HP:0004313	Decreased antibody level in blood
OMIM:274000	RBM8A	9939	HP:0000007	Autosomal recessive inheritance
OMIM:274000	RBM8A	9939	HP:0006443	Patellar aplasia
OMIM:274000	RBM8A	9939	HP:0001051	Seborrheic dermatitis
OMIM:274000	RBM8A	9939	HP:0001631	Atrial septal defect
OMIM:274000	RBM8A	9939	HP:0001181	Adducted thumb
OMIM:274000	RBM8A	9939	HP:0100327	Cow milk allergy
OMIM:274000	RBM8A	9939	HP:0001249	Intellectual disability
OMIM:274000	RBM8A	9939	HP:0001903	Anemia
OMIM:274000	RBM8A	9939	HP:0001737	Pancreatic cysts
OMIM:274000	RBM8A	9939	HP:0002970	Genu varum
OMIM:274000	RBM8A	9939	HP:0002827	Hip dislocation
OMIM:274000	RBM8A	9939	HP:0002673	Coxa valga
OMIM:274000	RBM8A	9939	HP:0009702	Carpal synostosis
OMIM:274000	RBM8A	9939	HP:0001270	Motor delay
OMIM:274000	RBM8A	9939	HP:0002414	Spina bifida
OMIM:604307	CRYGC	1420	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYGC	1420	HP:0000639	Nystagmus
OMIM:604307	CRYGC	1420	HP:0000646	Amblyopia
OMIM:604307	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYGC	1420	HP:0000505	Visual impairment
ORPHA:464	IKBKG	8517	HP:0001804	Hypoplastic fingernail
ORPHA:464	IKBKG	8517	HP:0001880	Eosinophilia
ORPHA:464	IKBKG	8517	HP:0000988	Skin rash
ORPHA:464	IKBKG	8517	HP:0004322	Short stature
ORPHA:464	IKBKG	8517	HP:0008066	Abnormal blistering of the skin
ORPHA:464	IKBKG	8517	HP:0002797	Osteolysis
ORPHA:464	IKBKG	8517	HP:0200043	Verrucae
ORPHA:464	IKBKG	8517	HP:0000668	Hypodontia
ORPHA:464	IKBKG	8517	HP:0200042	Skin ulcer
ORPHA:464	IKBKG	8517	HP:0005922	Abnormal hand morphology
ORPHA:464	IKBKG	8517	HP:0100490	Camptodactyly of finger
ORPHA:464	IKBKG	8517	HP:0001288	Gait disturbance
ORPHA:464	IKBKG	8517	HP:0100555	Asymmetric growth
ORPHA:464	IKBKG	8517	HP:0000684	Delayed eruption of teeth
ORPHA:464	IKBKG	8517	HP:0007400	Irregular hyperpigmentation
ORPHA:464	IKBKG	8517	HP:0000962	Hyperkeratosis
ORPHA:464	IKBKG	8517	HP:0007957	Corneal opacity
ORPHA:464	IKBKG	8517	HP:0000505	Visual impairment
ORPHA:464	IKBKG	8517	HP:0000486	Strabismus
ORPHA:464	IKBKG	8517	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:464	IKBKG	8517	HP:0010783	Erythema
ORPHA:464	IKBKG	8517	HP:0001596	Alopecia
ORPHA:464	IKBKG	8517	HP:0002650	Scoliosis
ORPHA:464	IKBKG	8517	HP:0000202	Oral cleft
ORPHA:464	IKBKG	8517	HP:0000975	Hyperhidrosis
ORPHA:464	IKBKG	8517	HP:0006482	Abnormality of dental morphology
ORPHA:464	IKBKG	8517	HP:0004097	Deviation of finger
ORPHA:464	IKBKG	8517	HP:0001053	Hypopigmented skin patches
ORPHA:464	IKBKG	8517	HP:0000364	Hearing abnormality
ORPHA:464	IKBKG	8517	HP:0002558	Supernumerary nipple
ORPHA:464	IKBKG	8517	HP:0005815	Supernumerary ribs
ORPHA:464	IKBKG	8517	HP:0100585	Telangiectasia of the skin
OMIM:300706	HUWE1	10075	HP:0001377	Limited elbow extension
OMIM:300706	HUWE1	10075	HP:0001182	Tapered finger
OMIM:300706	HUWE1	10075	HP:0001417	X-linked inheritance
OMIM:300706	HUWE1	10075	HP:0001249	Intellectual disability
OMIM:616139	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:616139	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:616139	GRIN2B	2904	HP:0001344	Absent speech
OMIM:616139	GRIN2B	2904	HP:0001290	Generalized hypotonia
OMIM:616139	GRIN2B	2904	HP:0001250	Seizures
OMIM:616139	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:616139	GRIN2B	2904	HP:0003828	Variable expressivity
OMIM:616139	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
ORPHA:743	PROS1	5627	HP:0000488	Retinopathy
ORPHA:743	PROS1	5627	HP:0000979	Purpura
ORPHA:743	PROS1	5627	HP:0002625	Deep venous thrombosis
ORPHA:743	PROS1	5627	HP:0004418	Thrombophlebitis
ORPHA:743	PROS1	5627	HP:0000963	Thin skin
OMIM:180104	RP9	6100	HP:0000662	Nyctalopia
OMIM:180104	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:180104	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:614160	MSTN	2660	HP:0000007	Autosomal recessive inheritance
OMIM:614160	MSTN	2660	HP:0003712	Skeletal muscle hypertrophy
OMIM:612526	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:612526	CAV1	857	HP:0001433	Hepatosplenomegaly
OMIM:612526	CAV1	857	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:612526	CAV1	857	HP:0004322	Short stature
OMIM:612526	CAV1	857	HP:0009125	Lipodystrophy
OMIM:612526	CAV1	857	HP:0000855	Insulin resistance
OMIM:612526	CAV1	857	HP:0000007	Autosomal recessive inheritance
OMIM:612526	CAV1	857	HP:0002901	Hypocalcemia
OMIM:612526	CAV1	857	HP:0000956	Acanthosis nigricans
OMIM:612526	CAV1	857	HP:0003124	Hypercholesterolemia
OMIM:612526	CAV1	857	HP:0001007	Hirsutism
OMIM:612526	CAV1	857	HP:0001397	Hepatic steatosis
OMIM:612526	CAV1	857	HP:0000819	Diabetes mellitus
OMIM:609057	CD151	977	HP:0000123	Nephritis
OMIM:609057	CD151	977	HP:0003774	Stage 5 chronic kidney disease
OMIM:609057	CD151	977	HP:0012221	Pretibial blistering
OMIM:609057	CD151	977	HP:0000112	Nephropathy
OMIM:609057	CD151	977	HP:0000407	Sensorineural hearing impairment
OMIM:609057	CD151	977	HP:0000007	Autosomal recessive inheritance
OMIM:609057	CD151	977	HP:0008404	Nail dystrophy
OMIM:609057	CD151	977	HP:0011906	Reduced beta/alpha synthesis ratio
OMIM:609057	CD151	977	HP:0007678	Lacrimal duct stenosis
OMIM:616298	DDX58	23586	HP:0000501	Glaucoma
OMIM:616298	DDX58	23586	HP:0000962	Hyperkeratosis
OMIM:616298	DDX58	23586	HP:0000006	Autosomal dominant inheritance
OMIM:101600	FGFR1	2260	HP:0000486	Strabismus
OMIM:101600	FGFR1	2260	HP:0000218	High palate
OMIM:101600	FGFR1	2260	HP:0000238	Hydrocephalus
OMIM:101600	FGFR1	2260	HP:0000452	Choanal stenosis
OMIM:101600	FGFR1	2260	HP:0005347	Cartilaginous trachea
OMIM:101600	FGFR1	2260	HP:0000244	Brachyturricephaly
OMIM:101600	FGFR1	2260	HP:0011304	Broad thumb
OMIM:101600	FGFR1	2260	HP:0000303	Mandibular prognathia
OMIM:101600	FGFR1	2260	HP:0010055	Broad hallux
OMIM:101600	FGFR1	2260	HP:0001159	Syndactyly
OMIM:101600	FGFR1	2260	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:101600	FGFR1	2260	HP:0003070	Elbow ankylosis
OMIM:101600	FGFR1	2260	HP:0000678	Dental crowding
OMIM:101600	FGFR1	2260	HP:0003196	Short nose
OMIM:101600	FGFR1	2260	HP:0006101	Finger syndactyly
OMIM:101600	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:101600	FGFR1	2260	HP:0003795	Short middle phalanx of toe
OMIM:101600	FGFR1	2260	HP:0001249	Intellectual disability
OMIM:101600	FGFR1	2260	HP:0004440	Coronal craniosynostosis
OMIM:101600	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:101600	FGFR1	2260	HP:0000586	Shallow orbits
OMIM:101600	FGFR1	2260	HP:0000327	Hypoplasia of the maxilla
OMIM:101600	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
OMIM:101600	FGFR1	2260	HP:0002308	Arnold-Chiari malformation
OMIM:101600	FGFR1	2260	HP:0002780	Bronchomalacia
OMIM:101600	FGFR1	2260	HP:0005280	Depressed nasal bridge
OMIM:101600	FGFR1	2260	HP:0000453	Choanal atresia
OMIM:101600	FGFR1	2260	HP:0003041	Humeroradial synostosis
OMIM:101600	FGFR2	2263	HP:0000486	Strabismus
OMIM:101600	FGFR2	2263	HP:0000218	High palate
OMIM:101600	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:101600	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:101600	FGFR2	2263	HP:0005347	Cartilaginous trachea
OMIM:101600	FGFR2	2263	HP:0000244	Brachyturricephaly
OMIM:101600	FGFR2	2263	HP:0011304	Broad thumb
OMIM:101600	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:101600	FGFR2	2263	HP:0010055	Broad hallux
OMIM:101600	FGFR2	2263	HP:0001159	Syndactyly
OMIM:101600	FGFR2	2263	HP:0006110	Shortening of all middle phalanges of the fingers
OMIM:101600	FGFR2	2263	HP:0003070	Elbow ankylosis
OMIM:101600	FGFR2	2263	HP:0000678	Dental crowding
OMIM:101600	FGFR2	2263	HP:0003196	Short nose
OMIM:101600	FGFR2	2263	HP:0006101	Finger syndactyly
OMIM:101600	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101600	FGFR2	2263	HP:0003795	Short middle phalanx of toe
OMIM:101600	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:101600	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101600	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101600	FGFR2	2263	HP:0000586	Shallow orbits
OMIM:101600	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:101600	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:101600	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
OMIM:101600	FGFR2	2263	HP:0002780	Bronchomalacia
OMIM:101600	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:101600	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:101600	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:616531	PI4KA	5297	HP:0000007	Autosomal recessive inheritance
OMIM:616531	PI4KA	5297	HP:0001762	Talipes equinovarus
OMIM:616531	PI4KA	5297	HP:0000347	Micrognathia
OMIM:616531	PI4KA	5297	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616531	PI4KA	5297	HP:0000268	Dolichocephaly
OMIM:616531	PI4KA	5297	HP:0001321	Cerebellar hypoplasia
OMIM:616531	PI4KA	5297	HP:0010557	Overlapping fingers
OMIM:616531	PI4KA	5297	HP:0008796	Externally rotated hips
OMIM:616531	PI4KA	5297	HP:0003577	Congenital onset
OMIM:616531	PI4KA	5297	HP:0007033	Cerebellar dysplasia
OMIM:600994	GSDME	1687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	GSDME	1687	HP:0000006	Autosomal dominant inheritance
OMIM:615518	UNC119	9094	HP:0011108	Recurrent sinusitis
OMIM:615518	UNC119	9094	HP:0000403	Recurrent otitis media
OMIM:615518	UNC119	9094	HP:0001888	Lymphopenia
OMIM:615518	UNC119	9094	HP:0002721	Immunodeficiency
OMIM:615518	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:615518	UNC119	9094	HP:0011945	Bronchiolitis obliterans organizing pneumonia
ORPHA:46	ADSL	158	HP:0001290	Generalized hypotonia
ORPHA:46	ADSL	158	HP:0001249	Intellectual disability
ORPHA:46	ADSL	158	HP:0000248	Brachycephaly
ORPHA:46	ADSL	158	HP:0001344	Absent speech
ORPHA:46	ADSL	158	HP:0000369	Low-set ears
ORPHA:46	ADSL	158	HP:0005469	Flat occiput
ORPHA:46	ADSL	158	HP:0001999	Abnormal facial shape
ORPHA:46	ADSL	158	HP:0000219	Thin upper lip vermilion
ORPHA:46	ADSL	158	HP:0000343	Long philtrum
ORPHA:46	ADSL	158	HP:0000463	Anteverted nares
ORPHA:46	ADSL	158	HP:0003196	Short nose
ORPHA:46	ADSL	158	HP:0011344	Severe global developmental delay
ORPHA:46	ADSL	158	HP:0000319	Smooth philtrum
ORPHA:46	ADSL	158	HP:0005487	Prominent metopic ridge
ORPHA:46	ADSL	158	HP:0007103	Hypointensity of cerebral white matter on MRI
ORPHA:46	ADSL	158	HP:0000252	Microcephaly
ORPHA:46	ADSL	158	HP:0001250	Seizures
OMIM:607554	KCNQ1	3784	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNQ1	3784	HP:0001425	Heterogeneous
OMIM:607554	KCNQ1	3784	HP:0001649	Tachycardia
OMIM:607554	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:614370	CSF2RB	1439	HP:0000007	Autosomal recessive inheritance
OMIM:614370	CSF2RB	1439	HP:0002094	Dyspnea
OMIM:614370	CSF2RB	1439	HP:0002093	Respiratory insufficiency
OMIM:614370	CSF2RB	1439	HP:0006517	Alveolar proteinosis
OMIM:608782	PDP1	54704	HP:0000007	Autosomal recessive inheritance
OMIM:608782	PDP1	54704	HP:0001250	Seizures
OMIM:608782	PDP1	54704	HP:0003593	Infantile onset
OMIM:608782	PDP1	54704	HP:0001249	Intellectual disability
OMIM:608782	PDP1	54704	HP:0002066	Gait ataxia
OMIM:608782	PDP1	54704	HP:0003128	Lactic acidosis
OMIM:608782	PDP1	54704	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
OMIM:608782	PDP1	54704	HP:0001290	Generalized hypotonia
OMIM:608782	PDP1	54704	HP:0002015	Dysphagia
OMIM:608782	PDP1	54704	HP:0001263	Global developmental delay
OMIM:608782	PDP1	54704	HP:0000639	Nystagmus
OMIM:602482	FOXC1	2296	HP:0009918	Ectopia pupillae
OMIM:602482	FOXC1	2296	HP:0000501	Glaucoma
OMIM:602482	FOXC1	2296	HP:0000668	Hypodontia
OMIM:602482	FOXC1	2296	HP:0000627	Posterior embryotoxon
OMIM:602482	FOXC1	2296	HP:0001425	Heterogeneous
OMIM:602482	FOXC1	2296	HP:0001643	Patent ductus arteriosus
OMIM:602482	FOXC1	2296	HP:0000407	Sensorineural hearing impairment
OMIM:602482	FOXC1	2296	HP:0011120	Concave nasal ridge
OMIM:602482	FOXC1	2296	HP:0001320	Cerebellar vermis hypoplasia
OMIM:602482	FOXC1	2296	HP:0007676	Hypoplasia of the iris
OMIM:602482	FOXC1	2296	HP:0000272	Malar flattening
OMIM:602482	FOXC1	2296	HP:0000520	Proptosis
OMIM:602482	FOXC1	2296	HP:0011800	Midface retrusion
OMIM:602482	FOXC1	2296	HP:0000316	Hypertelorism
OMIM:602482	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:602482	FOXC1	2296	HP:0000691	Microdontia
OMIM:602482	FOXC1	2296	HP:0001631	Atrial septal defect
OMIM:614044	PRSS1	5644	HP:0000007	Autosomal recessive inheritance
OMIM:614044	PRSS1	5644	HP:0003075	Hypoproteinemia
OMIM:614044	PRSS1	5644	HP:0001508	Failure to thrive
OMIM:256800	NTRK1	4914	HP:0000712	Emotional lability
OMIM:256800	NTRK1	4914	HP:0001249	Intellectual disability
OMIM:256800	NTRK1	4914	HP:0000742	Self-mutilation
OMIM:256800	NTRK1	4914	HP:0000752	Hyperactivity
OMIM:256800	NTRK1	4914	HP:0002754	Osteomyelitis
OMIM:256800	NTRK1	4914	HP:0001954	Episodic fever
OMIM:256800	NTRK1	4914	HP:0002459	Dysautonomia
OMIM:256800	NTRK1	4914	HP:0002821	Neuropathic arthropathy
OMIM:256800	NTRK1	4914	HP:0001226	Acral ulceration and osteomyelitis leading to autoamputation of digits
OMIM:256800	NTRK1	4914	HP:0002164	Nail dysplasia
OMIM:256800	NTRK1	4914	HP:0005307	Postural hypotension with compensatory tachycardia
OMIM:256800	NTRK1	4914	HP:0008404	Nail dystrophy
OMIM:256800	NTRK1	4914	HP:0000491	Keratitis
OMIM:256800	NTRK1	4914	HP:0000495	Recurrent corneal erosions
OMIM:256800	NTRK1	4914	HP:0003593	Infantile onset
OMIM:256800	NTRK1	4914	HP:0000559	Corneal scarring
OMIM:256800	NTRK1	4914	HP:0004782	Hypotrichosis of the scalp
OMIM:256800	NTRK1	4914	HP:0007021	Pain insensitivity
OMIM:256800	NTRK1	4914	HP:0007759	Opacification of the corneal stroma
OMIM:256800	NTRK1	4914	HP:0001263	Global developmental delay
OMIM:256800	NTRK1	4914	HP:0012804	Corneal ulceration
OMIM:256800	NTRK1	4914	HP:0000007	Autosomal recessive inheritance
OMIM:256800	NTRK1	4914	HP:0007249	Decreased number of small peripheral myelinated nerve fibers
OMIM:256800	NTRK1	4914	HP:0000970	Anhidrosis
ORPHA:85201	KAT6B	23522	HP:0002213	Fine hair
ORPHA:85201	KAT6B	23522	HP:0001263	Global developmental delay
ORPHA:85201	KAT6B	23522	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:85201	KAT6B	23522	HP:0006443	Patellar aplasia
ORPHA:85201	KAT6B	23522	HP:0008665	Clitoral hypertrophy
ORPHA:85201	KAT6B	23522	HP:0000750	Delayed speech and language development
ORPHA:85201	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:85201	KAT6B	23522	HP:0002209	Sparse scalp hair
ORPHA:85201	KAT6B	23522	HP:0000343	Long philtrum
ORPHA:85201	KAT6B	23522	HP:0000046	Scrotal hypoplasia
ORPHA:85201	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:85201	KAT6B	23522	HP:0000252	Microcephaly
ORPHA:85201	KAT6B	23522	HP:0000003	Multicystic kidney dysplasia
ORPHA:85201	KAT6B	23522	HP:0000280	Coarse facial features
ORPHA:85201	KAT6B	23522	HP:0000126	Hydronephrosis
ORPHA:85201	KAT6B	23522	HP:0000684	Delayed eruption of teeth
ORPHA:85201	KAT6B	23522	HP:0004279	Short palm
ORPHA:85201	KAT6B	23522	HP:0000426	Prominent nasal bridge
ORPHA:85201	KAT6B	23522	HP:0006380	Knee flexion contracture
ORPHA:85201	KAT6B	23522	HP:0000946	Hypoplastic ilia
ORPHA:85201	KAT6B	23522	HP:0000445	Wide nose
ORPHA:85201	KAT6B	23522	HP:0000369	Low-set ears
ORPHA:85201	KAT6B	23522	HP:0000448	Prominent nose
ORPHA:85201	KAT6B	23522	HP:0001762	Talipes equinovarus
ORPHA:85201	KAT6B	23522	HP:0001250	Seizures
ORPHA:85201	KAT6B	23522	HP:0001274	Agenesis of corpus callosum
ORPHA:85201	KAT6B	23522	HP:0003273	Hip contracture
ORPHA:85201	KAT6B	23522	HP:0001249	Intellectual disability
ORPHA:85201	KAT6B	23522	HP:0003175	Hypoplastic ischia
ORPHA:85201	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:300559	PHKA1	5255	HP:0003738	Exercise-induced myalgia
OMIM:300559	PHKA1	5255	HP:0001324	Muscle weakness
OMIM:300559	PHKA1	5255	HP:0008967	Exercise-induced muscle stiffness
OMIM:300559	PHKA1	5255	HP:0001419	X-linked recessive inheritance
OMIM:300559	PHKA1	5255	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300559	PHKA1	5255	HP:0003202	Skeletal muscle atrophy
OMIM:300559	PHKA1	5255	HP:0003546	Exercise intolerance
OMIM:300559	PHKA1	5255	HP:0008305	Exercise-induced myoglobinuria
ORPHA:163596	HBA2	3040	HP:0001635	Congestive heart failure
ORPHA:163596	HBA2	3040	HP:0000238	Hydrocephalus
ORPHA:163596	HBA2	3040	HP:0001562	Oligohydramnios
ORPHA:163596	HBA2	3040	HP:0000980	Pallor
ORPHA:163596	HBA2	3040	HP:0001744	Splenomegaly
ORPHA:163596	HBA2	3040	HP:0001903	Anemia
ORPHA:163596	HBA2	3040	HP:0011902	Abnormal hemoglobin
ORPHA:163596	HBA2	3040	HP:0100602	Preeclampsia
ORPHA:163596	HBA2	3040	HP:0001561	Polyhydramnios
ORPHA:163596	HBA2	3040	HP:0002240	Hepatomegaly
ORPHA:163596	HBA2	3040	HP:0001789	Hydrops fetalis
ORPHA:163596	HBA1	3039	HP:0001635	Congestive heart failure
ORPHA:163596	HBA1	3039	HP:0000238	Hydrocephalus
ORPHA:163596	HBA1	3039	HP:0001562	Oligohydramnios
ORPHA:163596	HBA1	3039	HP:0000980	Pallor
ORPHA:163596	HBA1	3039	HP:0001744	Splenomegaly
ORPHA:163596	HBA1	3039	HP:0001903	Anemia
ORPHA:163596	HBA1	3039	HP:0011902	Abnormal hemoglobin
ORPHA:163596	HBA1	3039	HP:0100602	Preeclampsia
ORPHA:163596	HBA1	3039	HP:0001561	Polyhydramnios
ORPHA:163596	HBA1	3039	HP:0002240	Hepatomegaly
ORPHA:163596	HBA1	3039	HP:0001789	Hydrops fetalis
OMIM:613152	FKTN	2218	HP:0003593	Infantile onset
OMIM:613152	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:613152	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613152	FKTN	2218	HP:0001270	Motor delay
OMIM:613152	FKTN	2218	HP:0001290	Generalized hypotonia
OMIM:613152	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:101075	GJB1	2705	HP:0001761	Pes cavus
ORPHA:101075	GJB1	2705	HP:0040129	Abnormal nerve conduction velocity
ORPHA:101075	GJB1	2705	HP:0007149	Distal upper limb amyotrophy
ORPHA:101075	GJB1	2705	HP:0008944	Distal lower limb amyotrophy
ORPHA:101075	GJB1	2705	HP:0007328	Impaired pain sensation
ORPHA:101075	GJB1	2705	HP:0000763	Sensory neuropathy
ORPHA:101075	GJB1	2705	HP:0001284	Areflexia
ORPHA:343	MVK	4598	HP:0001954	Episodic fever
ORPHA:343	MVK	4598	HP:0002027	Abdominal pain
ORPHA:343	MVK	4598	HP:0002716	Lymphadenopathy
ORPHA:343	MVK	4598	HP:0001369	Arthritis
ORPHA:343	MVK	4598	HP:0002076	Migraine
ORPHA:343	MVK	4598	HP:0011107	Recurrent aphthous stomatitis
ORPHA:343	MVK	4598	HP:0002014	Diarrhea
ORPHA:343	MVK	4598	HP:0002239	Gastrointestinal hemorrhage
ORPHA:343	MVK	4598	HP:0001025	Urticaria
ORPHA:343	MVK	4598	HP:0003326	Myalgia
ORPHA:343	MVK	4598	HP:0200034	Papule
ORPHA:343	MVK	4598	HP:0003565	Elevated erythrocyte sedimentation rate
ORPHA:343	MVK	4598	HP:0002633	Vasculitis
ORPHA:343	MVK	4598	HP:0002829	Arthralgia
ORPHA:343	MVK	4598	HP:0003261	Increased IgA level
ORPHA:343	MVK	4598	HP:0002240	Hepatomegaly
OMIM:613845	SARS2	54938	HP:0012622	Chronic kidney disease
OMIM:613845	SARS2	54938	HP:0001622	Premature birth
OMIM:613845	SARS2	54938	HP:0011968	Feeding difficulties
OMIM:613845	SARS2	54938	HP:0001290	Generalized hypotonia
OMIM:613845	SARS2	54938	HP:0001873	Thrombocytopenia
OMIM:613845	SARS2	54938	HP:0002092	Pulmonary arterial hypertension
OMIM:613845	SARS2	54938	HP:0000103	Polyuria
OMIM:613845	SARS2	54938	HP:0000007	Autosomal recessive inheritance
OMIM:613845	SARS2	54938	HP:0000127	Renal salt wasting
OMIM:613845	SARS2	54938	HP:0002149	Hyperuricemia
OMIM:613845	SARS2	54938	HP:0003593	Infantile onset
OMIM:613845	SARS2	54938	HP:0001508	Failure to thrive
OMIM:613845	SARS2	54938	HP:0002917	Hypomagnesemia
OMIM:613845	SARS2	54938	HP:0004719	Hyperechogenic kidneys
OMIM:613845	SARS2	54938	HP:0001903	Anemia
OMIM:613845	SARS2	54938	HP:0002878	Respiratory failure
OMIM:613845	SARS2	54938	HP:0001882	Leukopenia
OMIM:613845	SARS2	54938	HP:0002902	Hyponatremia
OMIM:613845	SARS2	54938	HP:0000093	Proteinuria
OMIM:613845	SARS2	54938	HP:0000819	Diabetes mellitus
OMIM:613845	SARS2	54938	HP:0003554	Type 2 muscle fiber atrophy
OMIM:613845	SARS2	54938	HP:0005977	Hypochloremic metabolic alkalosis
ORPHA:99734	SCN4A	6329	HP:0003394	Muscle cramps
ORPHA:99734	SCN4A	6329	HP:0003457	EMG abnormality
ORPHA:99734	SCN4A	6329	HP:0002486	Myotonia
ORPHA:99734	SCN4A	6329	HP:0001276	Hypertonia
ORPHA:99734	SCN4A	6329	HP:0001288	Gait disturbance
ORPHA:99734	SCN4A	6329	HP:0002015	Dysphagia
OMIM:204690	FAM20A	54757	HP:0000121	Nephrocalcinosis
OMIM:204690	FAM20A	54757	HP:0004727	Impaired renal concentrating ability
OMIM:204690	FAM20A	54757	HP:0000805	Enuresis
OMIM:204690	FAM20A	54757	HP:0000212	Gingival overgrowth
OMIM:204690	FAM20A	54757	HP:0000705	Amelogenesis imperfecta
OMIM:204690	FAM20A	54757	HP:0006302	Dagger-shaped pulp calcifications
OMIM:204690	FAM20A	54757	HP:0001548	Overgrowth
OMIM:204690	FAM20A	54757	HP:0000007	Autosomal recessive inheritance
OMIM:204690	FAM20A	54757	HP:0000083	Renal insufficiency
OMIM:204690	FAM20A	54757	HP:0000696	Delayed eruption of permanent teeth
OMIM:204690	FAM20A	54757	HP:0000103	Polyuria
OMIM:608180	FBLN1	2192	HP:0009701	Metacarpal synostosis
OMIM:608180	FBLN1	2192	HP:0008368	Tarsal synostosis
OMIM:608180	FBLN1	2192	HP:0009702	Carpal synostosis
OMIM:608180	FBLN1	2192	HP:0000006	Autosomal dominant inheritance
OMIM:608180	FBLN1	2192	HP:0010442	Polydactyly
OMIM:608180	FBLN1	2192	HP:0001440	Metatarsal synostosis
OMIM:608180	FBLN1	2192	HP:0001770	Toe syndactyly
OMIM:616389	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:616389	GNAT1	2779	HP:0007642	Congenital stationary night blindness
ORPHA:435804	ACAN	176	HP:0009778	Short thumb
ORPHA:435804	ACAN	176	HP:0011800	Midface retrusion
ORPHA:435804	ACAN	176	HP:0007281	Developmental stagnation
ORPHA:435804	ACAN	176	HP:0001156	Brachydactyly
OMIM:156610	TUBB	203068	HP:0001249	Intellectual disability
OMIM:156610	TUBB	203068	HP:0006610	Wide intermamillary distance
OMIM:156610	TUBB	203068	HP:0000750	Delayed speech and language development
OMIM:156610	TUBB	203068	HP:0002557	Hypoplastic nipples
OMIM:156610	TUBB	203068	HP:0000006	Autosomal dominant inheritance
OMIM:156610	TUBB	203068	HP:0000175	Cleft palate
OMIM:156610	TUBB	203068	HP:0000358	Posteriorly rotated ears
OMIM:156610	TUBB	203068	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:156610	TUBB	203068	HP:0000218	High palate
OMIM:156610	TUBB	203068	HP:0000160	Narrow mouth
OMIM:156610	TUBB	203068	HP:0000369	Low-set ears
OMIM:156610	TUBB	203068	HP:0000581	Blepharophimosis
OMIM:156610	TUBB	203068	HP:0000629	Periorbital fullness
OMIM:156610	TUBB	203068	HP:0001270	Motor delay
OMIM:156610	TUBB	203068	HP:0012745	Short palpebral fissure
OMIM:156610	TUBB	203068	HP:0000286	Epicanthus
OMIM:156610	TUBB	203068	HP:0000252	Microcephaly
OMIM:156610	TUBB	203068	HP:0000470	Short neck
OMIM:156610	TUBB	203068	HP:0006768	Localized neuroblastoma
OMIM:156610	TUBB	203068	HP:0012368	Flat face
OMIM:156610	TUBB	203068	HP:0000248	Brachycephaly
OMIM:156610	TUBB	203068	HP:0000316	Hypertelorism
OMIM:156610	TUBB	203068	HP:0000951	Abnormality of the skin
OMIM:192500	KCNQ1	3784	HP:0001279	Syncope
OMIM:192500	KCNQ1	3784	HP:0001425	Heterogeneous
OMIM:192500	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:192500	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:192500	KCNQ1	3784	HP:0000598	Abnormality of the ear
OMIM:192500	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:192500	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:616516	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:616516	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:616516	LMNA	4000	HP:0002987	Elbow flexion contracture
OMIM:616516	LMNA	4000	HP:0003676	Progressive
OMIM:616516	LMNA	4000	HP:0011675	Arrhythmia
OMIM:616516	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616516	LMNA	4000	HP:0001288	Gait disturbance
OMIM:617408	RPL27	6155	HP:0001903	Anemia
OMIM:617408	RPL27	6155	HP:0001631	Atrial septal defect
OMIM:617408	RPL27	6155	HP:0001642	Pulmonic stenosis
OMIM:617408	RPL27	6155	HP:0000006	Autosomal dominant inheritance
OMIM:615343	CAV1	857	HP:0002094	Dyspnea
OMIM:615343	CAV1	857	HP:0002092	Pulmonary arterial hypertension
OMIM:615343	CAV1	857	HP:0000006	Autosomal dominant inheritance
OMIM:615343	CAV1	857	HP:0005317	Increased pulmonary vascular resistance
OMIM:615343	CAV1	857	HP:0003829	Incomplete penetrance
OMIM:225790	FLVCR2	55640	HP:0001511	Intrauterine growth retardation
OMIM:225790	FLVCR2	55640	HP:0000238	Hydrocephalus
OMIM:225790	FLVCR2	55640	HP:0001305	Dandy-Walker malformation
OMIM:225790	FLVCR2	55640	HP:0000007	Autosomal recessive inheritance
OMIM:225790	FLVCR2	55640	HP:0000347	Micrognathia
OMIM:225790	FLVCR2	55640	HP:0001622	Premature birth
OMIM:225790	FLVCR2	55640	HP:0001321	Cerebellar hypoplasia
OMIM:225790	FLVCR2	55640	HP:0002365	Hypoplasia of the brainstem
OMIM:225790	FLVCR2	55640	HP:0001274	Agenesis of corpus callosum
OMIM:225790	FLVCR2	55640	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225790	FLVCR2	55640	HP:0001561	Polyhydramnios
OMIM:225790	FLVCR2	55640	HP:0002324	Hydranencephaly
OMIM:225790	FLVCR2	55640	HP:0001371	Flexion contracture
ORPHA:50942	DSG1	1828	HP:0001597	Abnormality of the nail
ORPHA:50942	DSG1	1828	HP:0000982	Palmoplantar keratoderma
ORPHA:50942	DSG1	1828	HP:0001595	Abnormality of the hair
ORPHA:50942	DSP	1832	HP:0001597	Abnormality of the nail
ORPHA:50942	DSP	1832	HP:0000982	Palmoplantar keratoderma
ORPHA:50942	DSP	1832	HP:0001595	Abnormality of the hair
ORPHA:50942	KRT1	3848	HP:0001597	Abnormality of the nail
ORPHA:50942	KRT1	3848	HP:0000982	Palmoplantar keratoderma
ORPHA:50942	KRT1	3848	HP:0001595	Abnormality of the hair
ORPHA:435660	LIPE	3991	HP:0008994	Proximal muscle weakness in lower limbs
ORPHA:435660	LIPE	3991	HP:0012881	Abnormality of the labia majora
ORPHA:435660	LIPE	3991	HP:0002155	Hypertriglyceridemia
ORPHA:435660	LIPE	3991	HP:0008997	Proximal muscle weakness in upper limbs
ORPHA:435660	LIPE	3991	HP:0000147	Polycystic ovaries
ORPHA:435660	LIPE	3991	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:435660	LIPE	3991	HP:0003292	Decreased serum leptin
ORPHA:435660	LIPE	3991	HP:0009125	Lipodystrophy
ORPHA:435660	LIPE	3991	HP:0000956	Acanthosis nigricans
ORPHA:435660	LIPE	3991	HP:0030685	Decreased adiponectin level
ORPHA:435660	LIPE	3991	HP:0001397	Hepatic steatosis
ORPHA:435660	LIPE	3991	HP:0003635	Loss of subcutaneous adipose tissue in limbs
ORPHA:435660	LIPE	3991	HP:0000831	Insulin-resistant diabetes mellitus
ORPHA:435660	LIPE	3991	HP:0002240	Hepatomegaly
ORPHA:435660	LIPE	3991	HP:0000468	Increased adipose tissue around the neck
ORPHA:435660	LIPE	3991	HP:0009042	Marked muscular hypertrophy
ORPHA:435660	LIPE	3991	HP:0008993	Increased intraabdominal fat
ORPHA:435660	LIPE	3991	HP:0009017	Loss of gluteal subcutaneous adipose tissue
ORPHA:435660	LIPE	3991	HP:0000876	Oligomenorrhea
ORPHA:79327	ALG1	56052	HP:0000252	Microcephaly
ORPHA:79327	ALG1	56052	HP:0001250	Seizures
ORPHA:79327	ALG1	56052	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:79327	ALG1	56052	HP:0000135	Hypogonadism
ORPHA:79327	ALG1	56052	HP:0001399	Hepatic failure
ORPHA:79327	ALG1	56052	HP:0001263	Global developmental delay
ORPHA:79327	ALG1	56052	HP:0000112	Nephropathy
ORPHA:79327	ALG1	56052	HP:0010978	Abnormality of immune system physiology
OMIM:614416	CYP26B1	56603	HP:0000248	Brachycephaly
OMIM:614416	CYP26B1	56603	HP:0001363	Craniosynostosis
OMIM:614416	CYP26B1	56603	HP:0002085	Occipital encephalocele
OMIM:614416	CYP26B1	56603	HP:0003041	Humeroradial synostosis
OMIM:614416	CYP26B1	56603	HP:0012165	Oligodactyly
OMIM:614416	CYP26B1	56603	HP:0000007	Autosomal recessive inheritance
OMIM:614416	CYP26B1	56603	HP:0001166	Arachnodactyly
OMIM:261680	PCK1	5105	HP:0002104	Apnea
OMIM:261680	PCK1	5105	HP:0005959	Impaired gluconeogenesis
OMIM:261680	PCK1	5105	HP:0001399	Hepatic failure
OMIM:261680	PCK1	5105	HP:0003593	Infantile onset
OMIM:261680	PCK1	5105	HP:0001397	Hepatic steatosis
OMIM:261680	PCK1	5105	HP:0001250	Seizures
OMIM:261680	PCK1	5105	HP:0000007	Autosomal recessive inheritance
OMIM:261680	PCK1	5105	HP:0000799	Renal steatosis
OMIM:261680	PCK1	5105	HP:0001263	Global developmental delay
OMIM:261680	PCK1	5105	HP:0000648	Optic atrophy
OMIM:261680	PCK1	5105	HP:0002059	Cerebral atrophy
OMIM:261680	PCK1	5105	HP:0000961	Cyanosis
OMIM:261680	PCK1	5105	HP:0001943	Hypoglycemia
OMIM:261680	PCK1	5105	HP:0002353	EEG abnormality
OMIM:612918	PIK3CA	5290	HP:0012721	Venous malformation
OMIM:612918	PIK3CA	5290	HP:0001528	Hemihypertrophy
OMIM:612918	PIK3CA	5290	HP:0004099	Macrodactyly
OMIM:612918	PIK3CA	5290	HP:0001548	Overgrowth
OMIM:612918	PIK3CA	5290	HP:0001744	Splenomegaly
OMIM:612918	PIK3CA	5290	HP:0012032	Lipoma
OMIM:612918	PIK3CA	5290	HP:0025104	Capillary malformation
OMIM:612918	PIK3CA	5290	HP:0001852	Sandal gap
OMIM:612918	PIK3CA	5290	HP:0000324	Facial asymmetry
OMIM:612918	PIK3CA	5290	HP:0004437	Cranial hyperostosis
OMIM:612918	PIK3CA	5290	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:612918	PIK3CA	5290	HP:0003745	Sporadic
OMIM:264070	PCBD1	5092	HP:0000007	Autosomal recessive inheritance
OMIM:264070	PCBD1	5092	HP:0001337	Tremor
OMIM:264070	PCBD1	5092	HP:0001276	Hypertonia
OMIM:264070	PCBD1	5092	HP:0001290	Generalized hypotonia
OMIM:264070	PCBD1	5092	HP:0004923	Hyperphenylalaninemia
OMIM:264070	PCBD1	5092	HP:0001270	Motor delay
OMIM:264070	PCBD1	5092	HP:0008297	Transient hyperphenylalaninemia
OMIM:615217	PIK3R5	23533	HP:0000657	Oculomotor apraxia
OMIM:615217	PIK3R5	23533	HP:0002359	Frequent falls
OMIM:615217	PIK3R5	23533	HP:0001260	Dysarthria
OMIM:615217	PIK3R5	23533	HP:0000639	Nystagmus
OMIM:615217	PIK3R5	23533	HP:0001265	Hyporeflexia
OMIM:615217	PIK3R5	23533	HP:0000514	Slow saccadic eye movements
OMIM:615217	PIK3R5	23533	HP:0001310	Dysmetria
OMIM:615217	PIK3R5	23533	HP:0002936	Distal sensory impairment
OMIM:615217	PIK3R5	23533	HP:0000007	Autosomal recessive inheritance
OMIM:615217	PIK3R5	23533	HP:0001272	Cerebellar atrophy
OMIM:615217	PIK3R5	23533	HP:0001284	Areflexia
OMIM:615217	PIK3R5	23533	HP:0003676	Progressive
ORPHA:79230	HFE2	148738	HP:0012463	Elevated transferrin saturation
ORPHA:79230	HFE2	148738	HP:0001644	Dilated cardiomyopathy
ORPHA:79230	HFE2	148738	HP:0003281	Increased serum ferritin
ORPHA:79230	HFE2	148738	HP:0000802	Impotence
ORPHA:79230	HFE2	148738	HP:0007440	Generalized hyperpigmentation
ORPHA:79230	HFE2	148738	HP:0002612	Congenital hepatic fibrosis
ORPHA:79230	HFE2	148738	HP:0002910	Elevated hepatic transaminases
ORPHA:79230	HFE2	148738	HP:0001254	Lethargy
ORPHA:79230	HFE2	148738	HP:0001324	Muscle weakness
ORPHA:79230	HFE2	148738	HP:0000819	Diabetes mellitus
ORPHA:79230	HFE2	148738	HP:0000135	Hypogonadism
ORPHA:79230	HFE2	148738	HP:0003040	Arthropathy
ORPHA:79230	HAMP	57817	HP:0012463	Elevated transferrin saturation
ORPHA:79230	HAMP	57817	HP:0001644	Dilated cardiomyopathy
ORPHA:79230	HAMP	57817	HP:0003281	Increased serum ferritin
ORPHA:79230	HAMP	57817	HP:0000802	Impotence
ORPHA:79230	HAMP	57817	HP:0007440	Generalized hyperpigmentation
ORPHA:79230	HAMP	57817	HP:0002612	Congenital hepatic fibrosis
ORPHA:79230	HAMP	57817	HP:0002910	Elevated hepatic transaminases
ORPHA:79230	HAMP	57817	HP:0001254	Lethargy
ORPHA:79230	HAMP	57817	HP:0001324	Muscle weakness
ORPHA:79230	HAMP	57817	HP:0000819	Diabetes mellitus
ORPHA:79230	HAMP	57817	HP:0000135	Hypogonadism
ORPHA:79230	HAMP	57817	HP:0003040	Arthropathy
OMIM:616230	CERS1	10715	HP:0000007	Autosomal recessive inheritance
OMIM:616230	CERS1	10715	HP:0002069	Generalized tonic-clonic seizures
OMIM:616230	CERS1	10715	HP:0000726	Dementia
OMIM:616230	CERS1	10715	HP:0001249	Intellectual disability
OMIM:616230	CERS1	10715	HP:0003676	Progressive
OMIM:607539	BHLHA9	727857	HP:0001792	Small nail
OMIM:607539	BHLHA9	727857	HP:0012725	Cutaneous syndactyly
OMIM:607539	BHLHA9	727857	HP:0100797	Toenail dysplasia
OMIM:607539	BHLHA9	727857	HP:0012385	Camptodactyly
OMIM:607539	BHLHA9	727857	HP:0000007	Autosomal recessive inheritance
OMIM:607539	BHLHA9	727857	HP:0010442	Polydactyly
OMIM:615859	DOCK7	85440	HP:0000294	Low anterior hairline
OMIM:615859	DOCK7	85440	HP:0200134	Epileptic encephalopathy
OMIM:615859	DOCK7	85440	HP:0100704	Cortical visual impairment
OMIM:615859	DOCK7	85440	HP:0001263	Global developmental delay
OMIM:615859	DOCK7	85440	HP:0012110	Hypoplasia of the pons
OMIM:615859	DOCK7	85440	HP:0000629	Periorbital fullness
OMIM:615859	DOCK7	85440	HP:0000322	Short philtrum
OMIM:615859	DOCK7	85440	HP:0000574	Thick eyebrow
OMIM:615859	DOCK7	85440	HP:0000455	Broad nasal tip
OMIM:615859	DOCK7	85440	HP:0000506	Telecanthus
OMIM:615859	DOCK7	85440	HP:0000377	Abnormality of the pinna
OMIM:615859	DOCK7	85440	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615859	DOCK7	85440	HP:0002521	Hypsarrhythmia
OMIM:615859	DOCK7	85440	HP:0000007	Autosomal recessive inheritance
OMIM:615859	DOCK7	85440	HP:0000341	Narrow forehead
OMIM:615859	DOCK7	85440	HP:0012471	Thick vermilion border
OMIM:615859	DOCK7	85440	HP:0003593	Infantile onset
OMIM:610532	FAM126A	84668	HP:0000519	Congenital cataract
OMIM:610532	FAM126A	84668	HP:0002080	Intention tremor
OMIM:610532	FAM126A	84668	HP:0002415	Leukodystrophy
OMIM:610532	FAM126A	84668	HP:0003487	Babinski sign
OMIM:610532	FAM126A	84668	HP:0003828	Variable expressivity
OMIM:610532	FAM126A	84668	HP:0002650	Scoliosis
OMIM:610532	FAM126A	84668	HP:0001347	Hyperreflexia
OMIM:610532	FAM126A	84668	HP:0001317	Abnormality of the cerebellum
OMIM:610532	FAM126A	84668	HP:0001260	Dysarthria
OMIM:610532	FAM126A	84668	HP:0008936	Muscular hypotonia of the trunk
OMIM:610532	FAM126A	84668	HP:0001250	Seizures
OMIM:610532	FAM126A	84668	HP:0003593	Infantile onset
OMIM:610532	FAM126A	84668	HP:0030147	Truncal titubation
OMIM:610532	FAM126A	84668	HP:0000007	Autosomal recessive inheritance
OMIM:610532	FAM126A	84668	HP:0001249	Intellectual disability
OMIM:610532	FAM126A	84668	HP:0003431	Decreased motor nerve conduction velocity
OMIM:610532	FAM126A	84668	HP:0007340	Lower limb muscle weakness
OMIM:610532	FAM126A	84668	HP:0001271	Polyneuropathy
OMIM:610532	FAM126A	84668	HP:0006957	Loss of ability to walk
OMIM:610532	FAM126A	84668	HP:0007210	Lower limb amyotrophy
OMIM:610532	FAM126A	84668	HP:0012762	Cerebral white matter atrophy
OMIM:610532	FAM126A	84668	HP:0001270	Motor delay
OMIM:610532	FAM126A	84668	HP:0001263	Global developmental delay
OMIM:617276	AP3B2	8120	HP:0001263	Global developmental delay
OMIM:617276	AP3B2	8120	HP:0001290	Generalized hypotonia
OMIM:617276	AP3B2	8120	HP:0001344	Absent speech
OMIM:617276	AP3B2	8120	HP:0100660	Dyskinesia
OMIM:617276	AP3B2	8120	HP:0200134	Epileptic encephalopathy
OMIM:617276	AP3B2	8120	HP:0000817	Poor eye contact
OMIM:617276	AP3B2	8120	HP:0000510	Rod-cone dystrophy
OMIM:617276	AP3B2	8120	HP:0000007	Autosomal recessive inheritance
OMIM:159000	MYOT	9499	HP:0003547	Shoulder girdle muscle weakness
OMIM:159000	MYOT	9499	HP:0001265	Hyporeflexia
OMIM:159000	MYOT	9499	HP:0003810	Late-onset distal muscle weakness
OMIM:159000	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:159000	MYOT	9499	HP:0001771	Achilles tendon contracture
OMIM:159000	MYOT	9499	HP:0003581	Adult onset
OMIM:159000	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:159000	MYOT	9499	HP:0003555	Muscle fiber splitting
OMIM:159000	MYOT	9499	HP:0003458	EMG: myopathic abnormalities
OMIM:159000	MYOT	9499	HP:0003438	Absent Achilles reflex
OMIM:159000	MYOT	9499	HP:0003677	Slow progression
OMIM:159000	MYOT	9499	HP:0008376	Nasal, dysarthic speech
OMIM:159000	MYOT	9499	HP:0003560	Muscular dystrophy
OMIM:159000	MYOT	9499	HP:0003749	Pelvic girdle muscle weakness
OMIM:159000	MYOT	9499	HP:0003805	Rimmed vacuoles
OMIM:159000	MYOT	9499	HP:0001425	Heterogeneous
OMIM:615573	COQ8B	79934	HP:0000100	Nephrotic syndrome
OMIM:615573	COQ8B	79934	HP:0003073	Hypoalbuminemia
OMIM:615573	COQ8B	79934	HP:0000007	Autosomal recessive inheritance
OMIM:615573	COQ8B	79934	HP:0000093	Proteinuria
OMIM:615573	COQ8B	79934	HP:0003774	Stage 5 chronic kidney disease
OMIM:615573	COQ8B	79934	HP:0003676	Progressive
OMIM:615573	COQ8B	79934	HP:0000097	Focal segmental glomerulosclerosis
OMIM:615573	COQ8B	79934	HP:0000969	Edema
OMIM:260920	MVK	4598	HP:0000988	Skin rash
OMIM:260920	MVK	4598	HP:0001369	Arthritis
OMIM:260920	MVK	4598	HP:0002014	Diarrhea
OMIM:260920	MVK	4598	HP:0011897	Neutrophilia
OMIM:260920	MVK	4598	HP:0001744	Splenomegaly
OMIM:260920	MVK	4598	HP:0002829	Arthralgia
OMIM:260920	MVK	4598	HP:0003565	Elevated erythrocyte sedimentation rate
OMIM:260920	MVK	4598	HP:0001974	Leukocytosis
OMIM:260920	MVK	4598	HP:0002315	Headache
OMIM:260920	MVK	4598	HP:0001034	Hypermelanotic macule
OMIM:260920	MVK	4598	HP:0002716	Lymphadenopathy
OMIM:260920	MVK	4598	HP:0000543	Optic disc pallor
OMIM:260920	MVK	4598	HP:0002013	Vomiting
OMIM:260920	MVK	4598	HP:0003261	Increased IgA level
OMIM:260920	MVK	4598	HP:0002027	Abdominal pain
OMIM:260920	MVK	4598	HP:0000007	Autosomal recessive inheritance
OMIM:260920	MVK	4598	HP:0002321	Vertigo
OMIM:260920	MVK	4598	HP:0000662	Nyctalopia
OMIM:612225	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:612225	PAX4	5078	HP:0004904	Maturity-onset diabetes of the young
OMIM:614691	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:614691	AGK	55750	HP:0000519	Congenital cataract
OMIM:235700	HK1	3098	HP:0000007	Autosomal recessive inheritance
OMIM:235700	HK1	3098	HP:0000952	Jaundice
OMIM:235700	HK1	3098	HP:0003577	Congenital onset
OMIM:235700	HK1	3098	HP:0001081	Cholelithiasis
OMIM:235700	HK1	3098	HP:0001744	Splenomegaly
OMIM:235700	HK1	3098	HP:0001897	Normocytic anemia
OMIM:235700	HK1	3098	HP:0001923	Reticulocytosis
OMIM:235700	HK1	3098	HP:0002904	Hyperbilirubinemia
OMIM:235700	HK1	3098	HP:0001895	Normochromic anemia
OMIM:235700	HK1	3098	HP:0001930	Nonspherocytic hemolytic anemia
OMIM:235700	HK1	3098	HP:0001082	Cholecystitis
OMIM:212500	LEMD2	221496	HP:0000007	Autosomal recessive inheritance
OMIM:212500	LEMD2	221496	HP:0001118	Juvenile cataract
OMIM:212500	LEMD2	221496	HP:0000519	Congenital cataract
OMIM:135750	LMBR1	64327	HP:0001159	Syndactyly
OMIM:135750	LMBR1	64327	HP:0001773	Short foot
OMIM:135750	LMBR1	64327	HP:0006443	Patellar aplasia
OMIM:135750	LMBR1	64327	HP:0001199	Triphalangeal thumb
OMIM:135750	LMBR1	64327	HP:0000271	Abnormality of the face
OMIM:135750	LMBR1	64327	HP:0001161	Hand polydactyly
OMIM:135750	LMBR1	64327	HP:0003974	Absent radius
OMIM:135750	LMBR1	64327	HP:0000430	Underdeveloped nasal alae
OMIM:135750	LMBR1	64327	HP:0001769	Broad foot
OMIM:135750	LMBR1	64327	HP:0010503	Fibular duplication
OMIM:135750	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:135750	LMBR1	64327	HP:0009556	Absent tibia
OMIM:608747	IGF1	3479	HP:0000508	Ptosis
OMIM:608747	IGF1	3479	HP:0000007	Autosomal recessive inheritance
OMIM:608747	IGF1	3479	HP:0009466	Radial deviation of finger
OMIM:608747	IGF1	3479	HP:0001249	Intellectual disability
OMIM:608747	IGF1	3479	HP:0004322	Short stature
OMIM:608747	IGF1	3479	HP:0000752	Hyperactivity
OMIM:608747	IGF1	3479	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608747	IGF1	3479	HP:0000347	Micrognathia
OMIM:608747	IGF1	3479	HP:0000407	Sensorineural hearing impairment
OMIM:608747	IGF1	3479	HP:0000938	Osteopenia
OMIM:608747	IGF1	3479	HP:0004325	Decreased body weight
OMIM:608747	IGF1	3479	HP:0001270	Motor delay
OMIM:608747	IGF1	3479	HP:0000736	Short attention span
OMIM:608747	IGF1	3479	HP:0030084	Clinodactyly
OMIM:608747	IGF1	3479	HP:0000252	Microcephaly
OMIM:608747	IGF1	3479	HP:0001511	Intrauterine growth retardation
OMIM:608747	IGF1	3479	HP:0002750	Delayed skeletal maturation
OMIM:608747	IGF1	3479	HP:0003577	Congenital onset
OMIM:612581	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:612581	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614732	CDKN1C	1028	HP:0005280	Depressed nasal bridge
OMIM:614732	CDKN1C	1028	HP:0000028	Cryptorchidism
OMIM:614732	CDKN1C	1028	HP:0000054	Micropenis
OMIM:614732	CDKN1C	1028	HP:0002656	Epiphyseal dysplasia
OMIM:614732	CDKN1C	1028	HP:0100255	Metaphyseal dysplasia
OMIM:614732	CDKN1C	1028	HP:0003196	Short nose
OMIM:614732	CDKN1C	1028	HP:0001511	Intrauterine growth retardation
OMIM:614732	CDKN1C	1028	HP:0002150	Hypercalciuria
OMIM:614732	CDKN1C	1028	HP:0008897	Postnatal growth retardation
OMIM:614732	CDKN1C	1028	HP:0003072	Hypercalcemia
OMIM:614732	CDKN1C	1028	HP:0000369	Low-set ears
OMIM:614732	CDKN1C	1028	HP:0000824	Growth hormone deficiency
OMIM:614732	CDKN1C	1028	HP:0000047	Hypospadias
OMIM:614732	CDKN1C	1028	HP:0002750	Delayed skeletal maturation
OMIM:614732	CDKN1C	1028	HP:0011220	Prominent forehead
OMIM:614732	CDKN1C	1028	HP:0000006	Autosomal dominant inheritance
OMIM:614732	CDKN1C	1028	HP:0000835	Adrenal hypoplasia
OMIM:610125	OTX2	5015	HP:0001290	Generalized hypotonia
OMIM:610125	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:610125	OTX2	5015	HP:0000482	Microcornea
OMIM:610125	OTX2	5015	HP:0001250	Seizures
OMIM:610125	OTX2	5015	HP:0001263	Global developmental delay
OMIM:610125	OTX2	5015	HP:0000589	Coloboma
OMIM:610125	OTX2	5015	HP:0000556	Retinal dystrophy
OMIM:610125	OTX2	5015	HP:0001388	Joint laxity
OMIM:610125	OTX2	5015	HP:0000518	Cataract
OMIM:610125	OTX2	5015	HP:0000568	Microphthalmia
OMIM:252600	GNPTAB	79158	HP:0004236	Irregular carpal bones
OMIM:252600	GNPTAB	79158	HP:0003182	Shallow acetabular fossae
OMIM:252600	GNPTAB	79158	HP:0000546	Retinal degeneration
OMIM:252600	GNPTAB	79158	HP:0000484	Hyperopic astigmatism
OMIM:252600	GNPTAB	79158	HP:0001363	Craniosynostosis
OMIM:252600	GNPTAB	79158	HP:0000303	Mandibular prognathia
OMIM:252600	GNPTAB	79158	HP:0002680	J-shaped sella turcica
OMIM:252600	GNPTAB	79158	HP:0000885	Broad ribs
OMIM:252600	GNPTAB	79158	HP:0012185	Constrictive median neuropathy
OMIM:252600	GNPTAB	79158	HP:0000773	Short ribs
OMIM:252600	GNPTAB	79158	HP:0001328	Specific learning disability
OMIM:252600	GNPTAB	79158	HP:0003538	Increased serum iduronate sulfatase activity
OMIM:252600	GNPTAB	79158	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase
OMIM:252600	GNPTAB	79158	HP:0001249	Intellectual disability
OMIM:252600	GNPTAB	79158	HP:0000280	Coarse facial features
OMIM:252600	GNPTAB	79158	HP:0003026	Short long bone
OMIM:252600	GNPTAB	79158	HP:0001659	Aortic regurgitation
OMIM:252600	GNPTAB	79158	HP:0000943	Dysostosis multiplex
OMIM:252600	GNPTAB	79158	HP:0001171	Split hand
OMIM:252600	GNPTAB	79158	HP:0002650	Scoliosis
OMIM:252600	GNPTAB	79158	HP:0001498	Carpal bone hypoplasia
OMIM:252600	GNPTAB	79158	HP:0004322	Short stature
OMIM:252600	GNPTAB	79158	HP:0003333	Increased serum beta-hexosaminidase
OMIM:252600	GNPTAB	79158	HP:0000007	Autosomal recessive inheritance
OMIM:252600	GNPTAB	79158	HP:0001072	Thickened skin
OMIM:252600	GNPTAB	79158	HP:0007759	Opacification of the corneal stroma
OMIM:252600	GNPTAB	79158	HP:0006162	Soft tissue swelling of interphalangeal joints
ORPHA:79402	LAMA3	3909	HP:0001798	Anonychia
ORPHA:79402	LAMA3	3909	HP:0001056	Milia
ORPHA:79402	LAMA3	3909	HP:0001903	Anemia
ORPHA:79402	LAMA3	3909	HP:0002231	Sparse body hair
ORPHA:79402	LAMA3	3909	HP:0008404	Nail dystrophy
ORPHA:79402	LAMA3	3909	HP:0200097	Oral mucosal blisters
ORPHA:79402	LAMA3	3909	HP:0001000	Abnormality of skin pigmentation
ORPHA:79402	LAMA3	3909	HP:0004552	Scarring alopecia of scalp
ORPHA:79402	LAMA3	3909	HP:0001057	Aplasia cutis congenita
ORPHA:79402	LAMA3	3909	HP:0001075	Atrophic scars
ORPHA:79402	LAMB3	3914	HP:0001798	Anonychia
ORPHA:79402	LAMB3	3914	HP:0001056	Milia
ORPHA:79402	LAMB3	3914	HP:0001903	Anemia
ORPHA:79402	LAMB3	3914	HP:0002231	Sparse body hair
ORPHA:79402	LAMB3	3914	HP:0008404	Nail dystrophy
ORPHA:79402	LAMB3	3914	HP:0200097	Oral mucosal blisters
ORPHA:79402	LAMB3	3914	HP:0001000	Abnormality of skin pigmentation
ORPHA:79402	LAMB3	3914	HP:0004552	Scarring alopecia of scalp
ORPHA:79402	LAMB3	3914	HP:0001057	Aplasia cutis congenita
ORPHA:79402	LAMB3	3914	HP:0001075	Atrophic scars
ORPHA:79402	ITGB4	3691	HP:0001798	Anonychia
ORPHA:79402	ITGB4	3691	HP:0001056	Milia
ORPHA:79402	ITGB4	3691	HP:0001903	Anemia
ORPHA:79402	ITGB4	3691	HP:0002231	Sparse body hair
ORPHA:79402	ITGB4	3691	HP:0008404	Nail dystrophy
ORPHA:79402	ITGB4	3691	HP:0200097	Oral mucosal blisters
ORPHA:79402	ITGB4	3691	HP:0001000	Abnormality of skin pigmentation
ORPHA:79402	ITGB4	3691	HP:0004552	Scarring alopecia of scalp
ORPHA:79402	ITGB4	3691	HP:0001057	Aplasia cutis congenita
ORPHA:79402	ITGB4	3691	HP:0001075	Atrophic scars
ORPHA:79402	COL17A1	1308	HP:0001798	Anonychia
ORPHA:79402	COL17A1	1308	HP:0001056	Milia
ORPHA:79402	COL17A1	1308	HP:0001903	Anemia
ORPHA:79402	COL17A1	1308	HP:0002231	Sparse body hair
ORPHA:79402	COL17A1	1308	HP:0008404	Nail dystrophy
ORPHA:79402	COL17A1	1308	HP:0200097	Oral mucosal blisters
ORPHA:79402	COL17A1	1308	HP:0001000	Abnormality of skin pigmentation
ORPHA:79402	COL17A1	1308	HP:0004552	Scarring alopecia of scalp
ORPHA:79402	COL17A1	1308	HP:0001057	Aplasia cutis congenita
ORPHA:79402	COL17A1	1308	HP:0001075	Atrophic scars
ORPHA:79402	LAMC2	3918	HP:0001798	Anonychia
ORPHA:79402	LAMC2	3918	HP:0001056	Milia
ORPHA:79402	LAMC2	3918	HP:0001903	Anemia
ORPHA:79402	LAMC2	3918	HP:0002231	Sparse body hair
ORPHA:79402	LAMC2	3918	HP:0008404	Nail dystrophy
ORPHA:79402	LAMC2	3918	HP:0200097	Oral mucosal blisters
ORPHA:79402	LAMC2	3918	HP:0001000	Abnormality of skin pigmentation
ORPHA:79402	LAMC2	3918	HP:0004552	Scarring alopecia of scalp
ORPHA:79402	LAMC2	3918	HP:0001057	Aplasia cutis congenita
ORPHA:79402	LAMC2	3918	HP:0001075	Atrophic scars
ORPHA:841	KRT17	3872	HP:0012035	Steatocystoma multiplex
ORPHA:841	KRT17	3872	HP:0009720	Adenoma sebaceum
OMIM:218800	UGT1A1	54658	HP:0008282	Unconjugated hyperbilirubinemia
OMIM:218800	UGT1A1	54658	HP:0000952	Jaundice
OMIM:218800	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:218800	UGT1A1	54658	HP:0001343	Kernicterus
OMIM:218800	UGT1A1	54658	HP:0040284	Very rare
OMIM:218800	UGT1A1	54658	HP:0001298	Encephalopathy
OMIM:612020	PNPLA6	10908	HP:0003487	Babinski sign
OMIM:612020	PNPLA6	10908	HP:0001288	Gait disturbance
OMIM:612020	PNPLA6	10908	HP:0001347	Hyperreflexia
OMIM:612020	PNPLA6	10908	HP:0007020	Progressive spastic paraplegia
OMIM:612020	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:612020	PNPLA6	10908	HP:0006827	Atrophy of the spinal cord
OMIM:612020	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:612020	PNPLA6	10908	HP:0009053	Distal lower limb muscle weakness
OMIM:614284	COL9A2	1298	HP:0000655	Vitreoretinal degeneration
OMIM:614284	COL9A2	1298	HP:0000541	Retinal detachment
OMIM:614284	COL9A2	1298	HP:0000407	Sensorineural hearing impairment
OMIM:614284	COL9A2	1298	HP:0000007	Autosomal recessive inheritance
OMIM:614284	COL9A2	1298	HP:0011003	Severe Myopia
OMIM:184450	AP4E1	23431	HP:0000006	Autosomal dominant inheritance
OMIM:184450	AP4E1	23431	HP:0001608	Abnormality of the voice
ORPHA:90154	ZMPSTE24	10269	HP:0001211	Abnormality of the fingertips
ORPHA:90154	ZMPSTE24	10269	HP:0004334	Dermal atrophy
ORPHA:90154	ZMPSTE24	10269	HP:0009839	Osteolytic defects of the distal phalanges of the hand
ORPHA:90154	ZMPSTE24	10269	HP:0000444	Convex nasal ridge
ORPHA:90154	ZMPSTE24	10269	HP:0000239	Large fontanelles
ORPHA:90154	ZMPSTE24	10269	HP:0001870	Acroosteolysis of distal phalanges (feet)
ORPHA:90154	ZMPSTE24	10269	HP:0004322	Short stature
ORPHA:90154	ZMPSTE24	10269	HP:0009882	Short distal phalanx of finger
ORPHA:90154	ZMPSTE24	10269	HP:0003196	Short nose
ORPHA:90154	ZMPSTE24	10269	HP:0000160	Narrow mouth
ORPHA:90154	ZMPSTE24	10269	HP:0000855	Insulin resistance
ORPHA:90154	ZMPSTE24	10269	HP:0000164	Abnormality of the dentition
ORPHA:90154	ZMPSTE24	10269	HP:0000963	Thin skin
ORPHA:90154	ZMPSTE24	10269	HP:0003077	Hyperlipidemia
ORPHA:90154	ZMPSTE24	10269	HP:0000520	Proptosis
ORPHA:90154	ZMPSTE24	10269	HP:0006710	Aplasia/Hypoplasia of the clavicles
ORPHA:90154	ZMPSTE24	10269	HP:0000953	Hyperpigmentation of the skin
ORPHA:90154	ZMPSTE24	10269	HP:0008404	Nail dystrophy
ORPHA:90154	ZMPSTE24	10269	HP:0003761	Calcinosis
ORPHA:90154	ZMPSTE24	10269	HP:0001596	Alopecia
ORPHA:90154	ZMPSTE24	10269	HP:0000347	Micrognathia
ORPHA:90154	ZMPSTE24	10269	HP:0009064	Generalized lipodystrophy
ORPHA:90154	ZMPSTE24	10269	HP:0005328	Progeroid facial appearance
OMIM:310600	NDP	4693	HP:0000648	Optic atrophy
OMIM:310600	NDP	4693	HP:0001419	X-linked recessive inheritance
OMIM:310600	NDP	4693	HP:0000518	Cataract
OMIM:310600	NDP	4693	HP:0007973	Retinal dysplasia
OMIM:310600	NDP	4693	HP:0000407	Sensorineural hearing impairment
OMIM:310600	NDP	4693	HP:0001250	Seizures
OMIM:310600	NDP	4693	HP:0000568	Microphthalmia
OMIM:310600	NDP	4693	HP:0000718	Aggressive behavior
OMIM:310600	NDP	4693	HP:0000541	Retinal detachment
OMIM:310600	NDP	4693	HP:0000726	Dementia
OMIM:310600	NDP	4693	HP:0000709	Psychosis
OMIM:310600	NDP	4693	HP:0006887	Intellectual disability, progressive
OMIM:310600	NDP	4693	HP:0007676	Hypoplasia of the iris
OMIM:310600	NDP	4693	HP:0007759	Opacification of the corneal stroma
OMIM:310600	NDP	4693	HP:0000618	Blindness
OMIM:310600	NDP	4693	HP:0000594	Shallow anterior chamber
OMIM:310600	NDP	4693	HP:0000738	Hallucinations
OMIM:310600	NDP	4693	HP:0008052	Retinal fold
OMIM:616000	ALB	213	HP:0002615	Hypotension
OMIM:616000	ALB	213	HP:0009125	Lipodystrophy
OMIM:616000	ALB	213	HP:0003077	Hyperlipidemia
OMIM:616000	ALB	213	HP:0012378	Fatigue
OMIM:616000	ALB	213	HP:0003073	Hypoalbuminemia
OMIM:616000	ALB	213	HP:0000007	Autosomal recessive inheritance
OMIM:616000	ALB	213	HP:0000939	Osteoporosis
OMIM:615990	MKS1	54903	HP:0010442	Polydactyly
OMIM:615990	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615990	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615990	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615990	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:615990	MKS1	54903	HP:0001513	Obesity
OMIM:615710	RFX6	222546	HP:0011985	Acholic stools
OMIM:615710	RFX6	222546	HP:0005912	Biliary atresia
OMIM:615710	RFX6	222546	HP:0001511	Intrauterine growth retardation
OMIM:615710	RFX6	222546	HP:0002904	Hyperbilirubinemia
OMIM:615710	RFX6	222546	HP:0002014	Diarrhea
OMIM:615710	RFX6	222546	HP:0002024	Malabsorption
OMIM:615710	RFX6	222546	HP:0005235	Jejunal atresia
OMIM:615710	RFX6	222546	HP:0002247	Duodenal atresia
OMIM:615710	RFX6	222546	HP:0003074	Hyperglycemia
OMIM:615710	RFX6	222546	HP:0000007	Autosomal recessive inheritance
OMIM:615710	RFX6	222546	HP:0011467	Absent gallbladder
OMIM:615710	RFX6	222546	HP:0002566	Intestinal malrotation
OMIM:615710	RFX6	222546	HP:0002594	Pancreatic hypoplasia
OMIM:614813	POC1A	25886	HP:0010743	Short metatarsal
OMIM:614813	POC1A	25886	HP:0200055	Small hand
OMIM:614813	POC1A	25886	HP:0010049	Short metacarpal
OMIM:614813	POC1A	25886	HP:0001620	High pitched voice
OMIM:614813	POC1A	25886	HP:0000252	Microcephaly
OMIM:614813	POC1A	25886	HP:0002515	Waddling gait
OMIM:614813	POC1A	25886	HP:0008070	Sparse hair
OMIM:614813	POC1A	25886	HP:0000256	Macrocephaly
OMIM:614813	POC1A	25886	HP:0009882	Short distal phalanx of finger
OMIM:614813	POC1A	25886	HP:0004590	Hypoplastic sacrum
OMIM:614813	POC1A	25886	HP:0010579	Cone-shaped epiphysis
OMIM:614813	POC1A	25886	HP:0030084	Clinodactyly
OMIM:614813	POC1A	25886	HP:0100864	Short femoral neck
OMIM:614813	POC1A	25886	HP:0001792	Small nail
OMIM:614813	POC1A	25886	HP:0000448	Prominent nose
OMIM:614813	POC1A	25886	HP:0002164	Nail dysplasia
OMIM:614813	POC1A	25886	HP:0000307	Pointed chin
OMIM:614813	POC1A	25886	HP:0008551	Microtia
OMIM:614813	POC1A	25886	HP:0008839	Hypoplastic pelvis
OMIM:614813	POC1A	25886	HP:0000303	Mandibular prognathia
OMIM:614813	POC1A	25886	HP:0000276	Long face
OMIM:614813	POC1A	25886	HP:0001518	Small for gestational age
OMIM:614813	POC1A	25886	HP:0011220	Prominent forehead
OMIM:614813	POC1A	25886	HP:0001156	Brachydactyly
OMIM:614813	POC1A	25886	HP:0000325	Triangular face
OMIM:614813	POC1A	25886	HP:0000798	Oligospermia
OMIM:614813	POC1A	25886	HP:0003498	Disproportionate short stature
OMIM:614813	POC1A	25886	HP:0000007	Autosomal recessive inheritance
OMIM:613668	MED17	9440	HP:0002169	Clonus
OMIM:613668	MED17	9440	HP:0005484	Postnatal microcephaly
OMIM:613668	MED17	9440	HP:0002521	Hypsarrhythmia
OMIM:613668	MED17	9440	HP:0001263	Global developmental delay
OMIM:613668	MED17	9440	HP:0002015	Dysphagia
OMIM:613668	MED17	9440	HP:0001257	Spasticity
OMIM:613668	MED17	9440	HP:0000007	Autosomal recessive inheritance
OMIM:613668	MED17	9440	HP:0011968	Feeding difficulties
OMIM:613668	MED17	9440	HP:0001250	Seizures
OMIM:613668	MED17	9440	HP:0001508	Failure to thrive
OMIM:613668	MED17	9440	HP:0002506	Diffuse cerebral atrophy
OMIM:613668	MED17	9440	HP:0000253	Progressive microcephaly
OMIM:613668	MED17	9440	HP:0003676	Progressive
ORPHA:3463	CISD2	493856	HP:0000648	Optic atrophy
ORPHA:3463	CISD2	493856	HP:0008872	Feeding difficulties in infancy
ORPHA:3463	CISD2	493856	HP:0000873	Diabetes insipidus
ORPHA:3463	CISD2	493856	HP:0100016	Abnormality of mesentery morphology
ORPHA:3463	CISD2	493856	HP:0000639	Nystagmus
ORPHA:3463	CISD2	493856	HP:0001251	Ataxia
ORPHA:3463	CISD2	493856	HP:0001959	Polydipsia
ORPHA:3463	CISD2	493856	HP:0001260	Dysarthria
ORPHA:3463	CISD2	493856	HP:0000112	Nephropathy
ORPHA:3463	CISD2	493856	HP:0000010	Recurrent urinary tract infections
ORPHA:3463	CISD2	493856	HP:0001250	Seizures
ORPHA:3463	CISD2	493856	HP:0100518	Dysuria
ORPHA:3463	CISD2	493856	HP:0000407	Sensorineural hearing impairment
ORPHA:3463	CISD2	493856	HP:0000819	Diabetes mellitus
ORPHA:3463	WFS1	7466	HP:0000648	Optic atrophy
ORPHA:3463	WFS1	7466	HP:0008872	Feeding difficulties in infancy
ORPHA:3463	WFS1	7466	HP:0000873	Diabetes insipidus
ORPHA:3463	WFS1	7466	HP:0100016	Abnormality of mesentery morphology
ORPHA:3463	WFS1	7466	HP:0000639	Nystagmus
ORPHA:3463	WFS1	7466	HP:0001251	Ataxia
ORPHA:3463	WFS1	7466	HP:0001959	Polydipsia
ORPHA:3463	WFS1	7466	HP:0001260	Dysarthria
ORPHA:3463	WFS1	7466	HP:0000112	Nephropathy
ORPHA:3463	WFS1	7466	HP:0000010	Recurrent urinary tract infections
ORPHA:3463	WFS1	7466	HP:0001250	Seizures
ORPHA:3463	WFS1	7466	HP:0100518	Dysuria
ORPHA:3463	WFS1	7466	HP:0000407	Sensorineural hearing impairment
ORPHA:3463	WFS1	7466	HP:0000819	Diabetes mellitus
ORPHA:2114	UFSP2	55325	HP:0001385	Hip dysplasia
ORPHA:2114	UFSP2	55325	HP:0004348	Abnormality of bone mineral density
ORPHA:2114	UFSP2	55325	HP:0006429	Broad femoral neck
ORPHA:2114	UFSP2	55325	HP:0009107	Abnormal ossification involving the femoral head and neck
ORPHA:2114	UFSP2	55325	HP:0010574	Abnormality of the epiphysis of the femoral head
ORPHA:2114	UFSP2	55325	HP:0002758	Osteoarthritis
OMIM:219100	FBLN5	10516	HP:0002205	Recurrent respiratory infections
OMIM:219100	FBLN5	10516	HP:0000007	Autosomal recessive inheritance
OMIM:219100	FBLN5	10516	HP:0001548	Overgrowth
OMIM:219100	FBLN5	10516	HP:0004381	Supravalvular aortic stenosis
OMIM:219100	FBLN5	10516	HP:0000023	Inguinal hernia
OMIM:219100	FBLN5	10516	HP:0000271	Abnormality of the face
OMIM:219100	FBLN5	10516	HP:0001388	Joint laxity
OMIM:219100	FBLN5	10516	HP:0002097	Emphysema
OMIM:219100	FBLN5	10516	HP:0004948	Vascular tortuosity
OMIM:219100	FBLN5	10516	HP:0000015	Bladder diverticulum
OMIM:219100	FBLN5	10516	HP:0000767	Pectus excavatum
OMIM:219100	FBLN5	10516	HP:0001562	Oligohydramnios
OMIM:219100	FBLN5	10516	HP:0001537	Umbilical hernia
OMIM:219100	FBLN5	10516	HP:0001425	Heterogeneous
OMIM:219100	FBLN5	10516	HP:0002631	Dilatation of ascending aorta
OMIM:219100	FBLN5	10516	HP:0000252	Microcephaly
OMIM:219100	FBLN5	10516	HP:0001166	Arachnodactyly
OMIM:219100	FBLN5	10516	HP:0001582	Redundant skin
OMIM:219100	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
ORPHA:23	ASL	435	HP:0003355	Aminoaciduria
ORPHA:23	ASL	435	HP:0004322	Short stature
ORPHA:23	ASL	435	HP:0002353	EEG abnormality
ORPHA:23	ASL	435	HP:0001987	Hyperammonemia
ORPHA:23	ASL	435	HP:0003217	Hyperglutaminemia
ORPHA:23	ASL	435	HP:0005961	Hypoargininemia
ORPHA:23	ASL	435	HP:0003218	Oroticaciduria
ORPHA:23	ASL	435	HP:0001249	Intellectual disability
ORPHA:23	ASL	435	HP:0001251	Ataxia
ORPHA:79397	KRT14	3861	HP:0000982	Palmoplantar keratoderma
ORPHA:79397	KRT14	3861	HP:0000978	Bruising susceptibility
ORPHA:79397	KRT14	3861	HP:0001053	Hypopigmented skin patches
ORPHA:79397	KRT14	3861	HP:0007495	Prematurely aged appearance
ORPHA:79397	KRT14	3861	HP:0008066	Abnormal blistering of the skin
ORPHA:79397	KRT14	3861	HP:0008404	Nail dystrophy
ORPHA:79397	KRT14	3861	HP:0007427	Reticulated skin pigmentation
ORPHA:79397	KRT14	3861	HP:0004334	Dermal atrophy
ORPHA:79397	KRT5	3852	HP:0000982	Palmoplantar keratoderma
ORPHA:79397	KRT5	3852	HP:0000978	Bruising susceptibility
ORPHA:79397	KRT5	3852	HP:0001053	Hypopigmented skin patches
ORPHA:79397	KRT5	3852	HP:0007495	Prematurely aged appearance
ORPHA:79397	KRT5	3852	HP:0008066	Abnormal blistering of the skin
ORPHA:79397	KRT5	3852	HP:0008404	Nail dystrophy
ORPHA:79397	KRT5	3852	HP:0007427	Reticulated skin pigmentation
ORPHA:79397	KRT5	3852	HP:0004334	Dermal atrophy
ORPHA:1873	CNNM4	26504	HP:0011073	Abnormality of dental color
ORPHA:1873	CNNM4	26504	HP:0000613	Photophobia
ORPHA:1873	CNNM4	26504	HP:0000648	Optic atrophy
ORPHA:1873	CNNM4	26504	HP:0000705	Amelogenesis imperfecta
ORPHA:1873	CNNM4	26504	HP:0007703	Abnormality of retinal pigmentation
ORPHA:1873	CNNM4	26504	HP:0000639	Nystagmus
ORPHA:1873	CNNM4	26504	HP:0000505	Visual impairment
ORPHA:1873	CNNM4	26504	HP:0000551	Abnormality of color vision
OMIM:300645	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:300645	CYBB	1536	HP:0011274	Recurrent mycobacterial infections
OMIM:300645	CYBB	1536	HP:0005428	Severe recurrent varicella
OMIM:617392	KREMEN1	83999	HP:0045074	Thin eyebrow
OMIM:617392	KREMEN1	83999	HP:0000294	Low anterior hairline
OMIM:617392	KREMEN1	83999	HP:0000653	Sparse eyelashes
OMIM:617392	KREMEN1	83999	HP:0000007	Autosomal recessive inheritance
OMIM:601631	FOXC1	2296	HP:0009918	Ectopia pupillae
OMIM:601631	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:601631	FOXC1	2296	HP:0000501	Glaucoma
OMIM:601631	FOXC1	2296	HP:0000627	Posterior embryotoxon
OMIM:601631	FOXC1	2296	HP:0001492	Axenfeld anomaly
OMIM:601631	FOXC1	2296	HP:0007990	Hypoplastic iris stroma
OMIM:601631	FOXC1	2296	HP:0000558	Rieger anomaly
OMIM:601631	FOXC1	2296	HP:0000659	Peters anomaly
OMIM:601631	FOXC1	2296	HP:0007905	Abnormal iris vasculature
ORPHA:231154	RAG1	5896	HP:0100806	Sepsis
ORPHA:231154	RAG1	5896	HP:0004430	Severe combined immunodeficiency
ORPHA:231154	RAG1	5896	HP:0006515	Interstitial pneumonitis
ORPHA:231154	RAG1	5896	HP:0010976	B lymphocytopenia
ORPHA:231154	RAG1	5896	HP:0005403	Decrease in T cell count
ORPHA:231154	RAG1	5896	HP:0001890	Autoimmune hemolytic anemia
ORPHA:231154	RAG1	5896	HP:0001744	Splenomegaly
ORPHA:231154	RAG1	5896	HP:0001904	Autoimmune neutropenia
OMIM:140350	HPD	3242	HP:0001942	Metabolic acidosis
OMIM:140350	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:140350	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:140350	HPD	3242	HP:0001508	Failure to thrive
OMIM:140350	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:140350	HPD	3242	HP:0000006	Autosomal dominant inheritance
OMIM:614198	SCN4A	6329	HP:0001270	Motor delay
OMIM:614198	SCN4A	6329	HP:0000508	Ptosis
OMIM:614198	SCN4A	6329	HP:0003473	Fatigable weakness
OMIM:614198	SCN4A	6329	HP:0003828	Variable expressivity
OMIM:614198	SCN4A	6329	HP:0001288	Gait disturbance
OMIM:614198	SCN4A	6329	HP:0003388	Easy fatigability
OMIM:614198	SCN4A	6329	HP:0000544	External ophthalmoplegia
OMIM:614198	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:614198	SCN4A	6329	HP:0003593	Infantile onset
OMIM:614595	CORIN	10699	HP:0000006	Autosomal dominant inheritance
OMIM:614595	CORIN	10699	HP:0100601	Eclampsia
OMIM:614595	CORIN	10699	HP:0100602	Preeclampsia
ORPHA:276575	ABCC8	6833	HP:0002240	Hepatomegaly
ORPHA:276575	ABCC8	6833	HP:0001985	Hypoketotic hypoglycemia
ORPHA:276575	ABCC8	6833	HP:0000252	Microcephaly
ORPHA:276575	ABCC8	6833	HP:0001998	Neonatal hypoglycemia
ORPHA:276575	ABCC8	6833	HP:0100503	Vitamin B1 deficiency
ORPHA:276575	ABCC8	6833	HP:0004510	Pancreatic islet-cell hyperplasia
ORPHA:276575	ABCC8	6833	HP:0002013	Vomiting
ORPHA:276575	ABCC8	6833	HP:0001259	Coma
ORPHA:276575	ABCC8	6833	HP:0001649	Tachycardia
ORPHA:276575	ABCC8	6833	HP:0000975	Hyperhidrosis
ORPHA:276575	ABCC8	6833	HP:0000980	Pallor
ORPHA:276575	ABCC8	6833	HP:0001254	Lethargy
ORPHA:276575	ABCC8	6833	HP:0004359	Abnormality of fatty-acid metabolism
ORPHA:276575	ABCC8	6833	HP:0002014	Diarrhea
ORPHA:276575	ABCC8	6833	HP:0002344	Progressive neurologic deterioration
ORPHA:276575	ABCC8	6833	HP:0000825	Hyperinsulinemic hypoglycemia
OMIM:154500	TCOF1	6949	HP:0007776	Sparse lower eyelashes
OMIM:154500	TCOF1	6949	HP:0000377	Abnormality of the pinna
OMIM:154500	TCOF1	6949	HP:0000006	Autosomal dominant inheritance
OMIM:616311	DPP6	1804	HP:0002750	Delayed skeletal maturation
OMIM:616311	DPP6	1804	HP:0200065	Chorioretinal degeneration
OMIM:616311	DPP6	1804	HP:0002650	Scoliosis
OMIM:616311	DPP6	1804	HP:0004325	Decreased body weight
OMIM:616311	DPP6	1804	HP:0000006	Autosomal dominant inheritance
OMIM:616311	DPP6	1804	HP:0004322	Short stature
OMIM:616311	DPP6	1804	HP:0000646	Amblyopia
OMIM:616311	DPP6	1804	HP:0001249	Intellectual disability
OMIM:616311	DPP6	1804	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616311	DPP6	1804	HP:0000252	Microcephaly
OMIM:615548	SCN11A	11280	HP:0000975	Hyperhidrosis
OMIM:615548	SCN11A	11280	HP:0007021	Pain insensitivity
OMIM:615548	SCN11A	11280	HP:0001324	Muscle weakness
OMIM:615548	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:615548	SCN11A	11280	HP:0000989	Pruritus
OMIM:615548	SCN11A	11280	HP:0002019	Constipation
OMIM:615548	SCN11A	11280	HP:0002014	Diarrhea
OMIM:615548	SCN11A	11280	HP:0002459	Dysautonomia
OMIM:615548	SCN11A	11280	HP:0001270	Motor delay
OMIM:615945	DAB1	1600	HP:0002359	Frequent falls
OMIM:615945	DAB1	1600	HP:0000006	Autosomal dominant inheritance
OMIM:615945	DAB1	1600	HP:0003677	Slow progression
OMIM:615945	DAB1	1600	HP:0001260	Dysarthria
OMIM:615945	DAB1	1600	HP:0001251	Ataxia
OMIM:615945	DAB1	1600	HP:0002317	Unsteady gait
OMIM:306955	ZIC3	7547	HP:0001508	Failure to thrive
OMIM:306955	ZIC3	7547	HP:0001419	X-linked recessive inheritance
OMIM:306955	ZIC3	7547	HP:0001417	X-linked inheritance
OMIM:306955	ZIC3	7547	HP:0001651	Dextrocardia
OMIM:306955	ZIC3	7547	HP:0001629	Ventricular septal defect
OMIM:306955	ZIC3	7547	HP:0001643	Patent ductus arteriosus
OMIM:306955	ZIC3	7547	HP:0001642	Pulmonic stenosis
OMIM:306955	ZIC3	7547	HP:0001640	Cardiomegaly
OMIM:306955	ZIC3	7547	HP:0001748	Polysplenia
OMIM:306955	ZIC3	7547	HP:0001631	Atrial septal defect
OMIM:306955	ZIC3	7547	HP:0003812	Phenotypic variability
OMIM:306955	ZIC3	7547	HP:0001669	Transposition of the great arteries
OMIM:306955	ZIC3	7547	HP:0012890	Posteriorly placed anus
OMIM:306955	ZIC3	7547	HP:0001746	Asplenia
OMIM:306955	ZIC3	7547	HP:0011565	Common atrium
OMIM:306955	ZIC3	7547	HP:0001750	Single ventricle
OMIM:306955	ZIC3	7547	HP:0000316	Hypertelorism
OMIM:306955	ZIC3	7547	HP:0011560	Mitral atresia
OMIM:306955	ZIC3	7547	HP:0000104	Renal agenesis
OMIM:306955	ZIC3	7547	HP:0003363	Abdominal situs inversus
OMIM:614034	HMOX1	3162	HP:0000093	Proteinuria
OMIM:614034	HMOX1	3162	HP:0000007	Autosomal recessive inheritance
OMIM:614034	HMOX1	3162	HP:0000790	Hematuria
OMIM:614034	HMOX1	3162	HP:0001878	Hemolytic anemia
OMIM:614034	HMOX1	3162	HP:0001510	Growth delay
OMIM:614034	HMOX1	3162	HP:0002240	Hepatomegaly
ORPHA:64739	FSHR	2492	HP:0030088	Increased serum testosterone level
ORPHA:64739	FSHR	2492	HP:0003270	Abdominal distention
ORPHA:64739	FSHR	2492	HP:0002202	Pleural effusion
ORPHA:64739	FSHR	2492	HP:0030005	Capillary leak
ORPHA:64739	FSHR	2492	HP:0001007	Hirsutism
ORPHA:64739	FSHR	2492	HP:0012886	Hemorrhagic ovarian cyst
ORPHA:64739	FSHR	2492	HP:0001541	Ascites
ORPHA:64739	FSHR	2492	HP:0002018	Nausea
ORPHA:64739	FSHR	2492	HP:0000837	Increased circulating gonadotropin level
ORPHA:64739	FSHR	2492	HP:0008675	Enlarged polycystic ovaries
ORPHA:64739	FSHR	2492	HP:0002027	Abdominal pain
ORPHA:79276	HMBS	3145	HP:0002027	Abdominal pain
ORPHA:79276	HMBS	3145	HP:0100735	Hypertensive crisis
ORPHA:79276	HMBS	3145	HP:0002019	Constipation
ORPHA:79276	HMBS	3145	HP:0003401	Paresthesia
ORPHA:79276	HMBS	3145	HP:0003326	Myalgia
ORPHA:79276	HMBS	3145	HP:0011675	Arrhythmia
ORPHA:79276	HMBS	3145	HP:0012086	Abnormal urinary color
ORPHA:79276	HMBS	3145	HP:0000016	Urinary retention
ORPHA:79276	HMBS	3145	HP:0000739	Anxiety
ORPHA:79276	HMBS	3145	HP:0002017	Nausea and vomiting
ORPHA:79276	HMBS	3145	HP:0100785	Insomnia
ORPHA:79276	HMBS	3145	HP:0000975	Hyperhidrosis
ORPHA:79276	HMBS	3145	HP:0001250	Seizures
ORPHA:79276	HMBS	3145	HP:0000716	Depressivity
ORPHA:79276	HMBS	3145	HP:0002039	Anorexia
OMIM:613835	CRB1	23418	HP:0008499	High-grade hypermetropia
OMIM:613835	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613835	CRB1	23418	HP:0000505	Visual impairment
OMIM:613835	CRB1	23418	HP:0000563	Keratoconus
OMIM:613835	CRB1	23418	HP:0000518	Cataract
OMIM:613835	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613835	CRB1	23418	HP:0012043	Pendular nystagmus
ORPHA:189	GJB6	10804	HP:0000982	Palmoplantar keratoderma
ORPHA:189	GJB6	10804	HP:0001006	Hypotrichosis
ORPHA:189	GJB6	10804	HP:0002215	Sparse axillary hair
ORPHA:189	GJB6	10804	HP:0001805	Thick nail
ORPHA:189	GJB6	10804	HP:0000613	Photophobia
ORPHA:189	GJB6	10804	HP:0001808	Fragile nails
ORPHA:189	GJB6	10804	HP:0002213	Fine hair
ORPHA:189	GJB6	10804	HP:0004322	Short stature
ORPHA:189	GJB6	10804	HP:0000518	Cataract
ORPHA:189	GJB6	10804	HP:0007400	Irregular hyperpigmentation
ORPHA:189	GJB6	10804	HP:0200042	Skin ulcer
ORPHA:189	GJB6	10804	HP:0000535	Sparse and thin eyebrow
ORPHA:189	GJB6	10804	HP:0001596	Alopecia
ORPHA:189	GJB6	10804	HP:0001795	Hyperconvex nail
ORPHA:189	GJB6	10804	HP:0100643	Abnormality of nail color
ORPHA:189	GJB6	10804	HP:0001806	Onycholysis
ORPHA:189	GJB6	10804	HP:0000653	Sparse eyelashes
ORPHA:189	GJB6	10804	HP:0002225	Sparse pubic hair
ORPHA:189	GJB6	10804	HP:0007440	Generalized hyperpigmentation
ORPHA:189	GJB6	10804	HP:0002209	Sparse scalp hair
ORPHA:90354	ZNF469	84627	HP:0000572	Visual loss
ORPHA:90354	ZNF469	84627	HP:0003326	Myalgia
ORPHA:90354	ZNF469	84627	HP:0000407	Sensorineural hearing impairment
ORPHA:90354	ZNF469	84627	HP:0000939	Osteoporosis
ORPHA:90354	ZNF469	84627	HP:0001119	Keratoglobus
ORPHA:90354	ZNF469	84627	HP:0011003	Severe Myopia
ORPHA:90354	ZNF469	84627	HP:0009887	Abnormality of hair pigmentation
ORPHA:90354	ZNF469	84627	HP:0001131	Corneal dystrophy
ORPHA:90354	ZNF469	84627	HP:0000974	Hyperextensible skin
ORPHA:90354	ZNF469	84627	HP:0000559	Corneal scarring
ORPHA:90354	ZNF469	84627	HP:0000977	Soft skin
ORPHA:90354	ZNF469	84627	HP:0000592	Blue sclerae
ORPHA:90354	ZNF469	84627	HP:0000978	Bruising susceptibility
ORPHA:90354	ZNF469	84627	HP:0001288	Gait disturbance
ORPHA:90354	ZNF469	84627	HP:0000405	Conductive hearing impairment
ORPHA:90354	ZNF469	84627	HP:0005692	Joint hyperflexibility
ORPHA:90354	PRDM5	11107	HP:0000572	Visual loss
ORPHA:90354	PRDM5	11107	HP:0003326	Myalgia
ORPHA:90354	PRDM5	11107	HP:0000407	Sensorineural hearing impairment
ORPHA:90354	PRDM5	11107	HP:0000939	Osteoporosis
ORPHA:90354	PRDM5	11107	HP:0001119	Keratoglobus
ORPHA:90354	PRDM5	11107	HP:0011003	Severe Myopia
ORPHA:90354	PRDM5	11107	HP:0009887	Abnormality of hair pigmentation
ORPHA:90354	PRDM5	11107	HP:0001131	Corneal dystrophy
ORPHA:90354	PRDM5	11107	HP:0000974	Hyperextensible skin
ORPHA:90354	PRDM5	11107	HP:0000559	Corneal scarring
ORPHA:90354	PRDM5	11107	HP:0000977	Soft skin
ORPHA:90354	PRDM5	11107	HP:0000592	Blue sclerae
ORPHA:90354	PRDM5	11107	HP:0000978	Bruising susceptibility
ORPHA:90354	PRDM5	11107	HP:0001288	Gait disturbance
ORPHA:90354	PRDM5	11107	HP:0000405	Conductive hearing impairment
ORPHA:90354	PRDM5	11107	HP:0005692	Joint hyperflexibility
OMIM:611705	TTN	7273	HP:0003324	Generalized muscle weakness
OMIM:611705	TTN	7273	HP:0001699	Sudden death
OMIM:611705	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611705	TTN	7273	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:611705	TTN	7273	HP:0003577	Congenital onset
OMIM:611705	TTN	7273	HP:0001270	Motor delay
OMIM:611705	TTN	7273	HP:0002650	Scoliosis
OMIM:611705	TTN	7273	HP:0003198	Myopathy
OMIM:611705	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:611705	TTN	7273	HP:0011675	Arrhythmia
OMIM:611705	TTN	7273	HP:0001371	Flexion contracture
OMIM:611705	TTN	7273	HP:0008981	Calf muscle hypertrophy
OMIM:611705	TTN	7273	HP:0003593	Infantile onset
OMIM:611705	TTN	7273	HP:0010628	Facial palsy
OMIM:611705	TTN	7273	HP:0000508	Ptosis
OMIM:614249	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:614249	MED23	9439	HP:0001249	Intellectual disability
OMIM:615528	DNAJC6	9829	HP:0002063	Rigidity
OMIM:615528	DNAJC6	9829	HP:0002067	Bradykinesia
OMIM:615528	DNAJC6	9829	HP:0001260	Dysarthria
OMIM:615528	DNAJC6	9829	HP:0003678	Rapidly progressive
OMIM:615528	DNAJC6	9829	HP:0000007	Autosomal recessive inheritance
OMIM:615528	DNAJC6	9829	HP:0001300	Parkinsonism
OMIM:615528	DNAJC6	9829	HP:0002362	Shuffling gait
OMIM:615528	DNAJC6	9829	HP:0001337	Tremor
OMIM:615528	DNAJC6	9829	HP:0003677	Slow progression
OMIM:615528	DNAJC6	9829	HP:0100543	Cognitive impairment
OMIM:615528	DNAJC6	9829	HP:0000738	Hallucinations
OMIM:615528	DNAJC6	9829	HP:0001257	Spasticity
OMIM:615528	DNAJC6	9829	HP:0002172	Postural instability
OMIM:616756	HACE1	57531	HP:0000556	Retinal dystrophy
OMIM:616756	HACE1	57531	HP:0001249	Intellectual disability
OMIM:616756	HACE1	57531	HP:0002059	Cerebral atrophy
OMIM:616756	HACE1	57531	HP:0002376	Developmental regression
OMIM:616756	HACE1	57531	HP:0000486	Strabismus
OMIM:616756	HACE1	57531	HP:0001251	Ataxia
OMIM:616756	HACE1	57531	HP:0001263	Global developmental delay
OMIM:616756	HACE1	57531	HP:0001252	Muscular hypotonia
OMIM:616756	HACE1	57531	HP:0002938	Lumbar hyperlordosis
OMIM:616756	HACE1	57531	HP:0002136	Broad-based gait
OMIM:616756	HACE1	57531	HP:0000007	Autosomal recessive inheritance
OMIM:616756	HACE1	57531	HP:0001290	Generalized hypotonia
OMIM:122700	CYP2C9	1559	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	CYP2C9	1559	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	CYP2C9	1559	HP:0000006	Autosomal dominant inheritance
OMIM:122700	VKORC1	79001	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	VKORC1	79001	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	VKORC1	79001	HP:0000006	Autosomal dominant inheritance
OMIM:122700	CYP2A6	1548	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	CYP2A6	1548	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	CYP2A6	1548	HP:0000006	Autosomal dominant inheritance
OMIM:612953	PLA2G6	8398	HP:0001332	Dystonia
OMIM:612953	PLA2G6	8398	HP:0002063	Rigidity
OMIM:612953	PLA2G6	8398	HP:0002312	Clumsiness
OMIM:612953	PLA2G6	8398	HP:0000751	Personality changes
OMIM:612953	PLA2G6	8398	HP:0001257	Spasticity
OMIM:612953	PLA2G6	8398	HP:0002067	Bradykinesia
OMIM:612953	PLA2G6	8398	HP:0000605	Supranuclear gaze palsy
OMIM:612953	PLA2G6	8398	HP:0000716	Depressivity
OMIM:612953	PLA2G6	8398	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612953	PLA2G6	8398	HP:0001337	Tremor
OMIM:612953	PLA2G6	8398	HP:0000718	Aggressive behavior
OMIM:612953	PLA2G6	8398	HP:0001300	Parkinsonism
OMIM:612953	PLA2G6	8398	HP:0003678	Rapidly progressive
OMIM:612953	PLA2G6	8398	HP:0001268	Mental deterioration
OMIM:612953	PLA2G6	8398	HP:0001347	Hyperreflexia
OMIM:612953	PLA2G6	8398	HP:0002172	Postural instability
OMIM:612953	PLA2G6	8398	HP:0006892	Frontotemporal cerebral atrophy
OMIM:612953	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:612953	PLA2G6	8398	HP:0002283	Global brain atrophy
OMIM:612953	PLA2G6	8398	HP:0001260	Dysarthria
OMIM:612953	PLA2G6	8398	HP:0002145	Frontotemporal dementia
OMIM:145900	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:145900	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:145900	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:145900	PMP22	5376	HP:0010871	Sensory ataxia
OMIM:145900	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:145900	PMP22	5376	HP:0001761	Pes cavus
OMIM:145900	PMP22	5376	HP:0002922	Increased CSF protein
OMIM:145900	PMP22	5376	HP:0000007	Autosomal recessive inheritance
OMIM:145900	PMP22	5376	HP:0001178	Ulnar claw
OMIM:145900	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:145900	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:145900	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	PMP22	5376	HP:0003376	Steppage gait
OMIM:145900	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:145900	PMP22	5376	HP:0001290	Generalized hypotonia
OMIM:145900	PMP22	5376	HP:0003593	Infantile onset
OMIM:145900	PMP22	5376	HP:0003382	Hypertrophic nerve changes
OMIM:145900	PMP22	5376	HP:0001284	Areflexia
OMIM:145900	PMP22	5376	HP:0001171	Split hand
OMIM:145900	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	PMP22	5376	HP:0001765	Hammertoe
OMIM:145900	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	PMP22	5376	HP:0001425	Heterogeneous
OMIM:145900	PMP22	5376	HP:0001270	Motor delay
OMIM:145900	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	PMP22	5376	HP:0003828	Variable expressivity
OMIM:145900	PRX	57716	HP:0003693	Distal amyotrophy
OMIM:145900	PRX	57716	HP:0000006	Autosomal dominant inheritance
OMIM:145900	PRX	57716	HP:0002936	Distal sensory impairment
OMIM:145900	PRX	57716	HP:0010871	Sensory ataxia
OMIM:145900	PRX	57716	HP:0001265	Hyporeflexia
OMIM:145900	PRX	57716	HP:0001761	Pes cavus
OMIM:145900	PRX	57716	HP:0002922	Increased CSF protein
OMIM:145900	PRX	57716	HP:0000007	Autosomal recessive inheritance
OMIM:145900	PRX	57716	HP:0001178	Ulnar claw
OMIM:145900	PRX	57716	HP:0003383	Onion bulb formation
OMIM:145900	PRX	57716	HP:0002751	Kyphoscoliosis
OMIM:145900	PRX	57716	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	PRX	57716	HP:0003376	Steppage gait
OMIM:145900	PRX	57716	HP:0002460	Distal muscle weakness
OMIM:145900	PRX	57716	HP:0001290	Generalized hypotonia
OMIM:145900	PRX	57716	HP:0003593	Infantile onset
OMIM:145900	PRX	57716	HP:0003382	Hypertrophic nerve changes
OMIM:145900	PRX	57716	HP:0001284	Areflexia
OMIM:145900	PRX	57716	HP:0001171	Split hand
OMIM:145900	PRX	57716	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	PRX	57716	HP:0001765	Hammertoe
OMIM:145900	PRX	57716	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	PRX	57716	HP:0001425	Heterogeneous
OMIM:145900	PRX	57716	HP:0001270	Motor delay
OMIM:145900	PRX	57716	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	PRX	57716	HP:0003828	Variable expressivity
OMIM:145900	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:145900	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:145900	EGR2	1959	HP:0002936	Distal sensory impairment
OMIM:145900	EGR2	1959	HP:0010871	Sensory ataxia
OMIM:145900	EGR2	1959	HP:0001265	Hyporeflexia
OMIM:145900	EGR2	1959	HP:0001761	Pes cavus
OMIM:145900	EGR2	1959	HP:0002922	Increased CSF protein
OMIM:145900	EGR2	1959	HP:0000007	Autosomal recessive inheritance
OMIM:145900	EGR2	1959	HP:0001178	Ulnar claw
OMIM:145900	EGR2	1959	HP:0003383	Onion bulb formation
OMIM:145900	EGR2	1959	HP:0002751	Kyphoscoliosis
OMIM:145900	EGR2	1959	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	EGR2	1959	HP:0003376	Steppage gait
OMIM:145900	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:145900	EGR2	1959	HP:0001290	Generalized hypotonia
OMIM:145900	EGR2	1959	HP:0003593	Infantile onset
OMIM:145900	EGR2	1959	HP:0003382	Hypertrophic nerve changes
OMIM:145900	EGR2	1959	HP:0001284	Areflexia
OMIM:145900	EGR2	1959	HP:0001171	Split hand
OMIM:145900	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	EGR2	1959	HP:0001765	Hammertoe
OMIM:145900	EGR2	1959	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	EGR2	1959	HP:0001425	Heterogeneous
OMIM:145900	EGR2	1959	HP:0001270	Motor delay
OMIM:145900	EGR2	1959	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	EGR2	1959	HP:0003828	Variable expressivity
OMIM:145900	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:145900	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:145900	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:145900	MPZ	4359	HP:0010871	Sensory ataxia
OMIM:145900	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:145900	MPZ	4359	HP:0001761	Pes cavus
OMIM:145900	MPZ	4359	HP:0002922	Increased CSF protein
OMIM:145900	MPZ	4359	HP:0000007	Autosomal recessive inheritance
OMIM:145900	MPZ	4359	HP:0001178	Ulnar claw
OMIM:145900	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:145900	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:145900	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	MPZ	4359	HP:0003376	Steppage gait
OMIM:145900	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:145900	MPZ	4359	HP:0001290	Generalized hypotonia
OMIM:145900	MPZ	4359	HP:0003593	Infantile onset
OMIM:145900	MPZ	4359	HP:0003382	Hypertrophic nerve changes
OMIM:145900	MPZ	4359	HP:0001284	Areflexia
OMIM:145900	MPZ	4359	HP:0001171	Split hand
OMIM:145900	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	MPZ	4359	HP:0001765	Hammertoe
OMIM:145900	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	MPZ	4359	HP:0001425	Heterogeneous
OMIM:145900	MPZ	4359	HP:0001270	Motor delay
OMIM:145900	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	MPZ	4359	HP:0003828	Variable expressivity
OMIM:267750	COL18A1	80781	HP:0000585	Band keratopathy
OMIM:267750	COL18A1	80781	HP:0000519	Congenital cataract
OMIM:267750	COL18A1	80781	HP:0002085	Occipital encephalocele
OMIM:267750	COL18A1	80781	HP:0002126	Polymicrogyria
OMIM:267750	COL18A1	80781	HP:0011003	Severe Myopia
OMIM:267750	COL18A1	80781	HP:0000541	Retinal detachment
OMIM:267750	COL18A1	80781	HP:0002059	Cerebral atrophy
OMIM:267750	COL18A1	80781	HP:0002119	Ventriculomegaly
OMIM:267750	COL18A1	80781	HP:0003812	Phenotypic variability
OMIM:267750	COL18A1	80781	HP:0000655	Vitreoretinal degeneration
OMIM:267750	COL18A1	80781	HP:0000572	Visual loss
OMIM:267750	COL18A1	80781	HP:0000007	Autosomal recessive inheritance
OMIM:267750	COL18A1	80781	HP:0000667	Phthisis bulbi
OMIM:267750	COL18A1	80781	HP:0000639	Nystagmus
OMIM:267750	COL18A1	80781	HP:0001104	Macular hypoplasia
OMIM:267750	COL18A1	80781	HP:0001251	Ataxia
OMIM:267750	COL18A1	80781	HP:0001272	Cerebellar atrophy
OMIM:267750	COL18A1	80781	HP:0001250	Seizures
ORPHA:67041	HYAL1	3373	HP:0004322	Short stature
ORPHA:67041	HYAL1	3373	HP:0003170	Abnormality of the acetabulum
ORPHA:2505	MAPRE2	10982	HP:0007400	Irregular hyperpigmentation
ORPHA:2505	MAPRE2	10982	HP:0001072	Thickened skin
ORPHA:2505	MAPRE2	10982	HP:0000969	Edema
ORPHA:2505	MAPRE2	10982	HP:0007522	Increased number of skin folds
ORPHA:2505	MAPRE2	10982	HP:0000175	Cleft palate
ORPHA:2505	TUBB	203068	HP:0007400	Irregular hyperpigmentation
ORPHA:2505	TUBB	203068	HP:0001072	Thickened skin
ORPHA:2505	TUBB	203068	HP:0000969	Edema
ORPHA:2505	TUBB	203068	HP:0007522	Increased number of skin folds
ORPHA:2505	TUBB	203068	HP:0000175	Cleft palate
OMIM:162800	ELANE	1991	HP:0000153	Abnormality of the mouth
OMIM:162800	ELANE	1991	HP:0000006	Autosomal dominant inheritance
OMIM:162800	ELANE	1991	HP:0001945	Fever
OMIM:162800	ELANE	1991	HP:0040289	Cyclic neutropenia
OMIM:616827	LIMS2	55679	HP:0006673	Reduced systolic function
OMIM:616827	LIMS2	55679	HP:0003560	Muscular dystrophy
OMIM:616827	LIMS2	55679	HP:0001644	Dilated cardiomyopathy
OMIM:616827	LIMS2	55679	HP:0011463	Childhood onset
OMIM:616827	LIMS2	55679	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616827	LIMS2	55679	HP:0001762	Talipes equinovarus
OMIM:616827	LIMS2	55679	HP:0009025	Increased connective tissue
OMIM:616827	LIMS2	55679	HP:0000007	Autosomal recessive inheritance
OMIM:616827	LIMS2	55679	HP:0003202	Skeletal muscle atrophy
OMIM:616827	LIMS2	55679	HP:0008981	Calf muscle hypertrophy
OMIM:616827	LIMS2	55679	HP:0003676	Progressive
OMIM:616827	LIMS2	55679	HP:0002273	Tetraparesis
OMIM:616827	LIMS2	55679	HP:0030284	Triangular tongue
OMIM:617433	ARHGEF18	23370	HP:0001123	Visual field defect
OMIM:617433	ARHGEF18	23370	HP:0011505	Cystoid macular edema
OMIM:617433	ARHGEF18	23370	HP:0030786	Photopsia
OMIM:617433	ARHGEF18	23370	HP:0007663	Reduced visual acuity
OMIM:617433	ARHGEF18	23370	HP:0000007	Autosomal recessive inheritance
OMIM:617433	ARHGEF18	23370	HP:0000543	Optic disc pallor
ORPHA:93	AGA	175	HP:0000280	Coarse facial features
ORPHA:93	AGA	175	HP:0012068	Aspartylglucosaminuria
ORPHA:93	AGA	175	HP:0000212	Gingival overgrowth
ORPHA:93	AGA	175	HP:0008551	Microtia
ORPHA:93	AGA	175	HP:0008430	Anterior beaking of lumbar vertebrae
ORPHA:93	AGA	175	HP:0100660	Dyskinesia
ORPHA:93	AGA	175	HP:0001249	Intellectual disability
ORPHA:93	AGA	175	HP:0001537	Umbilical hernia
ORPHA:93	AGA	175	HP:0000158	Macroglossia
ORPHA:93	AGA	175	HP:0000750	Delayed speech and language development
ORPHA:93	AGA	175	HP:0000768	Pectus carinatum
ORPHA:93	AGA	175	HP:0000303	Mandibular prognathia
ORPHA:93	AGA	175	HP:0003103	Abnormal cortical bone morphology
ORPHA:93	AGA	175	HP:0003196	Short nose
ORPHA:93	AGA	175	HP:0100729	Large face
ORPHA:93	AGA	175	HP:0002650	Scoliosis
ORPHA:93	AGA	175	HP:0002997	Abnormality of the ulna
ORPHA:93	AGA	175	HP:0000431	Wide nasal bridge
ORPHA:93	AGA	175	HP:0002684	Thickened calvaria
ORPHA:93	AGA	175	HP:0004337	Abnormality of amino acid metabolism
ORPHA:93	AGA	175	HP:0000053	Macroorchidism
ORPHA:93	AGA	175	HP:0002167	Neurological speech impairment
ORPHA:93	AGA	175	HP:0000316	Hypertelorism
ORPHA:93	AGA	175	HP:0012471	Thick vermilion border
ORPHA:93	AGA	175	HP:0000670	Carious teeth
OMIM:608456	MUTYH	4595	HP:0000007	Autosomal recessive inheritance
OMIM:608456	MUTYH	4595	HP:0005227	Adenomatous colonic polyposis
ORPHA:289601	NT5E	4907	HP:0025324	Arterial occlusion
ORPHA:289601	NT5E	4907	HP:0012101	Decreased serum creatinine
OMIM:300971	MAGED2	10916	HP:0000848	Increased circulating renin level
OMIM:300971	MAGED2	10916	HP:0001622	Premature birth
OMIM:300971	MAGED2	10916	HP:0002902	Hyponatremia
OMIM:300971	MAGED2	10916	HP:0001419	X-linked recessive inheritance
OMIM:300971	MAGED2	10916	HP:0012408	Medullary nephrocalcinosis
OMIM:300971	MAGED2	10916	HP:0001563	Fetal polyuria
OMIM:300971	MAGED2	10916	HP:0002150	Hypercalciuria
OMIM:300971	MAGED2	10916	HP:0002900	Hypokalemia
OMIM:300971	MAGED2	10916	HP:0001561	Polyhydramnios
OMIM:300971	MAGED2	10916	HP:0000103	Polyuria
OMIM:300971	MAGED2	10916	HP:0003113	Hypochloremia
OMIM:617132	UBA5	79876	HP:0002020	Gastroesophageal reflux
OMIM:617132	UBA5	79876	HP:0002079	Hypoplasia of the corpus callosum
OMIM:617132	UBA5	79876	HP:0000737	Irritability
OMIM:617132	UBA5	79876	HP:0001290	Generalized hypotonia
OMIM:617132	UBA5	79876	HP:0001332	Dystonia
OMIM:617132	UBA5	79876	HP:0000007	Autosomal recessive inheritance
OMIM:617132	UBA5	79876	HP:0001272	Cerebellar atrophy
OMIM:617132	UBA5	79876	HP:0011968	Feeding difficulties
OMIM:617132	UBA5	79876	HP:0004322	Short stature
OMIM:617132	UBA5	79876	HP:0010864	Intellectual disability, severe
OMIM:617132	UBA5	79876	HP:0001298	Encephalopathy
OMIM:617132	UBA5	79876	HP:0001257	Spasticity
OMIM:617132	UBA5	79876	HP:0001508	Failure to thrive
OMIM:617132	UBA5	79876	HP:0012448	Delayed myelination
OMIM:617132	UBA5	79876	HP:0002059	Cerebral atrophy
OMIM:617132	UBA5	79876	HP:0001250	Seizures
OMIM:617132	UBA5	79876	HP:0002305	Athetosis
OMIM:617132	UBA5	79876	HP:0000817	Poor eye contact
OMIM:617132	UBA5	79876	HP:0001344	Absent speech
OMIM:617132	UBA5	79876	HP:0000298	Mask-like facies
OMIM:617132	UBA5	79876	HP:0005484	Postnatal microcephaly
OMIM:615935	PTF1A	256297	HP:0002570	Steatorrhea
OMIM:615935	PTF1A	256297	HP:0001518	Small for gestational age
OMIM:615935	PTF1A	256297	HP:0000007	Autosomal recessive inheritance
ORPHA:1310	COL1A1	1277	HP:0100658	Cellulitis
ORPHA:1310	COL1A1	1277	HP:0000708	Behavioral abnormality
ORPHA:1310	COL1A1	1277	HP:0006465	Periosteal thickening of long tubular bones
ORPHA:1310	COL1A1	1277	HP:0001945	Fever
ORPHA:1310	COL1A1	1277	HP:0005731	Cortical irregularity
ORPHA:1310	COL1A1	1277	HP:0100963	Hyperesthesia
OMIM:614441	SLCO2A1	6578	HP:0002829	Arthralgia
OMIM:614441	SLCO2A1	6578	HP:0001217	Clubbing
OMIM:614441	SLCO2A1	6578	HP:0030314	Periostosis
OMIM:614441	SLCO2A1	6578	HP:0000007	Autosomal recessive inheritance
ORPHA:3286	CALM1	801	HP:0002321	Vertigo
ORPHA:3286	CALM1	801	HP:0004756	Ventricular tachycardia
ORPHA:3286	CALM2	805	HP:0002321	Vertigo
ORPHA:3286	CALM2	805	HP:0004756	Ventricular tachycardia
ORPHA:3286	RYR2	6262	HP:0002321	Vertigo
ORPHA:3286	RYR2	6262	HP:0004756	Ventricular tachycardia
ORPHA:3286	CALM3	808	HP:0002321	Vertigo
ORPHA:3286	CALM3	808	HP:0004756	Ventricular tachycardia
ORPHA:3286	TRDN	10345	HP:0002321	Vertigo
ORPHA:3286	TRDN	10345	HP:0004756	Ventricular tachycardia
ORPHA:3286	TECRL	253017	HP:0002321	Vertigo
ORPHA:3286	TECRL	253017	HP:0004756	Ventricular tachycardia
ORPHA:3286	CASQ2	845	HP:0002321	Vertigo
ORPHA:3286	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:137600	PITX2	5308	HP:0001999	Abnormal facial shape
OMIM:137600	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:137600	PITX2	5308	HP:0000501	Glaucoma
OMIM:137600	PITX2	5308	HP:0007990	Hypoplastic iris stroma
OMIM:137600	PITX2	5308	HP:0007730	Iris hypopigmentation
OMIM:137600	PITX2	5308	HP:0000164	Abnormality of the dentition
OMIM:135500	KCNH1	3756	HP:0001537	Umbilical hernia
OMIM:135500	KCNH1	3756	HP:0005113	Dilatation of the aortic arch
OMIM:135500	KCNH1	3756	HP:0001250	Seizures
OMIM:135500	KCNH1	3756	HP:0000006	Autosomal dominant inheritance
OMIM:135500	KCNH1	3756	HP:0003298	Spina bifida occulta
OMIM:135500	KCNH1	3756	HP:0001187	Hyperextensibility of the finger joints
OMIM:135500	KCNH1	3756	HP:0000431	Wide nasal bridge
OMIM:135500	KCNH1	3756	HP:0002650	Scoliosis
OMIM:135500	KCNH1	3756	HP:0001290	Generalized hypotonia
OMIM:135500	KCNH1	3756	HP:0000169	Gingival fibromatosis
OMIM:135500	KCNH1	3756	HP:0000212	Gingival overgrowth
OMIM:135500	KCNH1	3756	HP:0000358	Posteriorly rotated ears
OMIM:135500	KCNH1	3756	HP:0000280	Coarse facial features
OMIM:135500	KCNH1	3756	HP:0000303	Mandibular prognathia
OMIM:135500	KCNH1	3756	HP:0002240	Hepatomegaly
OMIM:135500	KCNH1	3756	HP:0001643	Patent ductus arteriosus
OMIM:135500	KCNH1	3756	HP:0009882	Short distal phalanx of finger
OMIM:135500	KCNH1	3756	HP:0000545	Myopia
OMIM:135500	KCNH1	3756	HP:0000684	Delayed eruption of teeth
OMIM:135500	KCNH1	3756	HP:0001744	Splenomegaly
OMIM:135500	KCNH1	3756	HP:0001507	Growth abnormality
OMIM:135500	KCNH1	3756	HP:0001857	Short distal phalanx of toe
OMIM:135500	KCNH1	3756	HP:0000574	Thick eyebrow
OMIM:135500	KCNH1	3756	HP:0001638	Cardiomyopathy
OMIM:135500	KCNH1	3756	HP:0000040	Long penis
OMIM:135500	KCNH1	3756	HP:0000179	Thick lower lip vermilion
OMIM:135500	KCNH1	3756	HP:0000218	High palate
OMIM:135500	KCNH1	3756	HP:0002616	Aortic root dilatation
OMIM:135500	KCNH1	3756	HP:0000518	Cataract
OMIM:135500	KCNH1	3756	HP:0001792	Small nail
OMIM:135500	KCNH1	3756	HP:0000664	Synophrys
OMIM:135500	KCNH1	3756	HP:0001007	Hirsutism
OMIM:248510	MANBA	4126	HP:0001252	Muscular hypotonia
OMIM:248510	MANBA	4126	HP:0012066	Increased urinary disaccharide excretion
OMIM:248510	MANBA	4126	HP:0000365	Hearing impairment
OMIM:248510	MANBA	4126	HP:0000007	Autosomal recessive inheritance
OMIM:248510	MANBA	4126	HP:0002719	Recurrent infections
OMIM:248510	MANBA	4126	HP:0001249	Intellectual disability
OMIM:248510	MANBA	4126	HP:0002167	Neurological speech impairment
OMIM:248510	MANBA	4126	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:248510	MANBA	4126	HP:0001014	Angiokeratoma
OMIM:248510	MANBA	4126	HP:0001290	Generalized hypotonia
OMIM:248510	MANBA	4126	HP:0000718	Aggressive behavior
OMIM:248510	MANBA	4126	HP:0000503	Tortuosity of conjunctival vessels
OMIM:248510	MANBA	4126	HP:0000752	Hyperactivity
OMIM:600974	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:120433	YAP1	10413	HP:0000006	Autosomal dominant inheritance
OMIM:216950	C1R	715	HP:0004431	Complement deficiency
OMIM:216950	C1R	715	HP:0001369	Arthritis
OMIM:216950	C1R	715	HP:0007417	Discoid lupus rash
OMIM:216950	C1R	715	HP:0000123	Nephritis
OMIM:216950	C1R	715	HP:0002829	Arthralgia
OMIM:216950	C1R	715	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1R	715	HP:0002837	Recurrent bronchitis
OMIM:216950	C1R	715	HP:0002960	Autoimmunity
OMIM:615849	GLI2	2736	HP:0004322	Short stature
OMIM:615849	GLI2	2736	HP:0010627	Anterior pituitary hypoplasia
OMIM:615849	GLI2	2736	HP:0000054	Micropenis
OMIM:615849	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:615849	GLI2	2736	HP:0000028	Cryptorchidism
OMIM:615849	GLI2	2736	HP:0003829	Incomplete penetrance
OMIM:615849	GLI2	2736	HP:0003828	Variable expressivity
OMIM:615849	GLI2	2736	HP:0040075	Hypopituitarism
OMIM:615849	GLI2	2736	HP:0011755	Ectopic posterior pituitary
OMIM:616455	ATP6V1B2	526	HP:0002002	Deep philtrum
OMIM:616455	ATP6V1B2	526	HP:0000470	Short neck
OMIM:616455	ATP6V1B2	526	HP:0000212	Gingival overgrowth
OMIM:616455	ATP6V1B2	526	HP:0000456	Bifid nasal tip
OMIM:616455	ATP6V1B2	526	HP:0000430	Underdeveloped nasal alae
OMIM:616455	ATP6V1B2	526	HP:0005322	Prominent nasal septum
OMIM:616455	ATP6V1B2	526	HP:0000664	Synophrys
OMIM:616455	ATP6V1B2	526	HP:0000158	Macroglossia
OMIM:616455	ATP6V1B2	526	HP:0000407	Sensorineural hearing impairment
OMIM:616455	ATP6V1B2	526	HP:0012471	Thick vermilion border
OMIM:616455	ATP6V1B2	526	HP:0000431	Wide nasal bridge
OMIM:616455	ATP6V1B2	526	HP:0004322	Short stature
OMIM:616455	ATP6V1B2	526	HP:0000574	Thick eyebrow
OMIM:616455	ATP6V1B2	526	HP:0000006	Autosomal dominant inheritance
OMIM:617046	FARS2	10667	HP:0007210	Lower limb amyotrophy
OMIM:617046	FARS2	10667	HP:0003677	Slow progression
OMIM:617046	FARS2	10667	HP:0003487	Babinski sign
OMIM:617046	FARS2	10667	HP:0000007	Autosomal recessive inheritance
OMIM:617046	FARS2	10667	HP:0001347	Hyperreflexia
OMIM:617046	FARS2	10667	HP:0001258	Spastic paraplegia
OMIM:311360	FMR1	2332	HP:0000858	Menstrual irregularities
OMIM:311360	FMR1	2332	HP:0001417	X-linked inheritance
OMIM:311360	FMR1	2332	HP:0000837	Increased circulating gonadotropin level
OMIM:311360	FMR1	2332	HP:0008209	Premature ovarian insufficiency
OMIM:311360	FMR1	2332	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:616913	SLFN14	342618	HP:0000132	Menorrhagia
OMIM:616913	SLFN14	342618	HP:0000421	Epistaxis
OMIM:616913	SLFN14	342618	HP:0000006	Autosomal dominant inheritance
OMIM:616913	SLFN14	342618	HP:0000978	Bruising susceptibility
OMIM:616913	SLFN14	342618	HP:0001873	Thrombocytopenia
OMIM:613870	ECE1	1889	HP:0000822	Hypertension
OMIM:613870	ECE1	1889	HP:0000426	Prominent nasal bridge
OMIM:613870	ECE1	1889	HP:0000358	Posteriorly rotated ears
OMIM:613870	ECE1	1889	HP:0001629	Ventricular septal defect
OMIM:613870	ECE1	1889	HP:0002251	Aganglionic megacolon
OMIM:613870	ECE1	1889	HP:0000414	Bulbous nose
OMIM:613870	ECE1	1889	HP:0000378	Cupped ear
OMIM:613870	ECE1	1889	HP:0001643	Patent ductus arteriosus
OMIM:613870	ECE1	1889	HP:0001649	Tachycardia
OMIM:613870	ECE1	1889	HP:0001795	Hyperconvex nail
OMIM:613870	ECE1	1889	HP:0009626	Contractures of the interphalangeal joint of the thumb
OMIM:613870	ECE1	1889	HP:0003196	Short nose
OMIM:613870	ECE1	1889	HP:0002459	Dysautonomia
OMIM:613870	ECE1	1889	HP:0002133	Status epilepticus
OMIM:613870	ECE1	1889	HP:0000054	Micropenis
OMIM:613870	ECE1	1889	HP:0000006	Autosomal dominant inheritance
OMIM:613870	ECE1	1889	HP:0001182	Tapered finger
OMIM:613870	ECE1	1889	HP:0001631	Atrial septal defect
OMIM:613870	ECE1	1889	HP:0000713	Agitation
OMIM:251270	TUBGCP6	85378	HP:0000518	Cataract
OMIM:251270	TUBGCP6	85378	HP:0007703	Abnormality of retinal pigmentation
OMIM:251270	TUBGCP6	85378	HP:0001249	Intellectual disability
OMIM:251270	TUBGCP6	85378	HP:0000007	Autosomal recessive inheritance
OMIM:251270	TUBGCP6	85378	HP:0000340	Sloping forehead
OMIM:251270	TUBGCP6	85378	HP:0001263	Global developmental delay
OMIM:251270	TUBGCP6	85378	HP:0000568	Microphthalmia
OMIM:251270	TUBGCP6	85378	HP:0000543	Optic disc pallor
OMIM:251270	TUBGCP6	85378	HP:0001321	Cerebellar hypoplasia
OMIM:251270	TUBGCP6	85378	HP:0007731	Chorioretinal dysplasia
OMIM:251270	TUBGCP6	85378	HP:0000505	Visual impairment
OMIM:251270	TUBGCP6	85378	HP:0000252	Microcephaly
OMIM:251270	TUBGCP6	85378	HP:0000541	Retinal detachment
OMIM:251270	TUBGCP6	85378	HP:0004322	Short stature
OMIM:251270	TUBGCP6	85378	HP:0001302	Pachygyria
OMIM:251270	TUBGCP6	85378	HP:0002059	Cerebral atrophy
OMIM:251270	TUBGCP6	85378	HP:0008052	Retinal fold
OMIM:251270	TUBGCP6	85378	HP:0009879	Cortical gyral simplification
OMIM:251270	TUBGCP6	85378	HP:0000556	Retinal dystrophy
OMIM:251270	TUBGCP6	85378	HP:0001000	Abnormality of skin pigmentation
OMIM:251270	TUBGCP6	85378	HP:0003577	Congenital onset
ORPHA:785	ESR1	2099	HP:0000833	Glucose intolerance
ORPHA:785	ESR1	2099	HP:0000956	Acanthosis nigricans
ORPHA:785	ESR1	2099	HP:0003187	Breast hypoplasia
ORPHA:785	ESR1	2099	HP:0000837	Increased circulating gonadotropin level
ORPHA:785	ESR1	2099	HP:0004929	Coronary atherosclerosis
ORPHA:785	ESR1	2099	HP:0000786	Primary amenorrhea
ORPHA:785	ESR1	2099	HP:0000939	Osteoporosis
ORPHA:785	ESR1	2099	HP:0001061	Acne
ORPHA:785	ESR1	2099	HP:0008187	Absence of secondary sex characteristics
ORPHA:785	ESR1	2099	HP:0000842	Hyperinsulinemia
ORPHA:785	ESR1	2099	HP:0003799	Marked delay in bone age
ORPHA:785	ESR1	2099	HP:0002574	Episodic abdominal pain
ORPHA:785	ESR1	2099	HP:0010679	Elevated tissue non-specific alkaline phosphatase
ORPHA:785	ESR1	2099	HP:0000013	Hypoplasia of the uterus
ORPHA:785	ESR1	2099	HP:0002663	Delayed epiphyseal ossification
ORPHA:785	ESR1	2099	HP:0000938	Osteopenia
ORPHA:785	ESR1	2099	HP:0001548	Overgrowth
ORPHA:785	ESR1	2099	HP:0008675	Enlarged polycystic ovaries
ORPHA:785	ESR1	2099	HP:0008197	Absence of pubertal development
OMIM:607936	CSTA	1475	HP:0000007	Autosomal recessive inheritance
OMIM:607936	CSTA	1475	HP:0008064	Ichthyosis
OMIM:607936	CSTA	1475	HP:0040189	Scaling skin
OMIM:607936	CSTA	1475	HP:0100725	Lichenification
OMIM:607936	CSTA	1475	HP:0000982	Palmoplantar keratoderma
OMIM:601494	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:601494	TNNT2	7139	HP:0001699	Sudden death
OMIM:601494	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:193235	CAPN5	726	HP:0030667	Peripheral retinal neovascularization
OMIM:193235	CAPN5	726	HP:0000512	Abnormal electroretinogram
OMIM:193235	CAPN5	726	HP:0007658	Large hyperpigmented retinal spots
OMIM:193235	CAPN5	726	HP:0000554	Uveitis
OMIM:193235	CAPN5	726	HP:0000006	Autosomal dominant inheritance
OMIM:193235	CAPN5	726	HP:0007778	Posterior retinal neovascularization
OMIM:193235	CAPN5	726	HP:0000618	Blindness
OMIM:193235	CAPN5	726	HP:0007902	Vitreous hemorrhage
OMIM:193235	CAPN5	726	HP:0000541	Retinal detachment
OMIM:193235	CAPN5	726	HP:0007773	Vitreoretinopathy
OMIM:611363	TBX20	57057	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNH2	3757	HP:0001425	Heterogeneous
OMIM:613688	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNH2	3757	HP:0001279	Syncope
OMIM:613688	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:613688	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:613688	KCNH2	3757	HP:0001657	Prolonged QT interval
ORPHA:2780	AMER1	139285	HP:0008818	Large iliac wings
ORPHA:2780	AMER1	139285	HP:0008808	High iliac wings
ORPHA:2780	AMER1	139285	HP:0002684	Thickened calvaria
ORPHA:2780	AMER1	139285	HP:0000193	Bifid uvula
ORPHA:2780	AMER1	139285	HP:0000256	Macrocephaly
ORPHA:2780	AMER1	139285	HP:0005469	Flat occiput
ORPHA:2780	AMER1	139285	HP:0000176	Submucous cleft hard palate
ORPHA:2780	AMER1	139285	HP:0002650	Scoliosis
ORPHA:2780	AMER1	139285	HP:0000431	Wide nasal bridge
ORPHA:2780	AMER1	139285	HP:0000239	Large fontanelles
ORPHA:2780	AMER1	139285	HP:0000270	Delayed cranial suture closure
ORPHA:2780	AMER1	139285	HP:0000944	Abnormality of the metaphysis
ORPHA:2780	AMER1	139285	HP:0000684	Delayed eruption of teeth
ORPHA:2780	AMER1	139285	HP:0100670	Rough bone trabeculation
ORPHA:2780	AMER1	139285	HP:0000405	Conductive hearing impairment
ORPHA:2780	AMER1	139285	HP:0011002	Osteopetrosis
ORPHA:2780	AMER1	139285	HP:0011220	Prominent forehead
ORPHA:2780	AMER1	139285	HP:0002705	High, narrow palate
ORPHA:2780	AMER1	139285	HP:0002007	Frontal bossing
ORPHA:2780	AMER1	139285	HP:0005465	Facial hyperostosis
OMIM:601952	POMP	51371	HP:0001795	Hyperconvex nail
OMIM:601952	POMP	51371	HP:0000007	Autosomal recessive inheritance
OMIM:601952	POMP	51371	HP:0001036	Parakeratosis
OMIM:601952	POMP	51371	HP:0007465	Honeycomb palmoplantar keratoderma
OMIM:601952	POMP	51371	HP:0008064	Ichthyosis
OMIM:601952	POMP	51371	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
OMIM:601952	POMP	51371	HP:0008404	Nail dystrophy
OMIM:601952	POMP	51371	HP:0009775	Amniotic constriction ring
OMIM:601952	POMP	51371	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
OMIM:601606	CYLD	1540	HP:0003581	Adult onset
OMIM:601606	CYLD	1540	HP:0000006	Autosomal dominant inheritance
ORPHA:1426	LBR	3930	HP:0000347	Micrognathia
ORPHA:1426	LBR	3930	HP:0100602	Preeclampsia
ORPHA:1426	LBR	3930	HP:0008890	Severe short-limb dwarfism
ORPHA:1426	LBR	3930	HP:0002983	Micromelia
ORPHA:1426	LBR	3930	HP:0006619	Anterior rib punctate calcifications
ORPHA:1426	LBR	3930	HP:0100569	Abnormal vertebral ossification
ORPHA:1426	LBR	3930	HP:0008905	Rhizomelia
ORPHA:1426	LBR	3930	HP:0001004	Lymphedema
ORPHA:1426	LBR	3930	HP:0001881	Abnormality of leukocytes
ORPHA:1426	LBR	3930	HP:0004331	Decreased skull ossification
ORPHA:1426	LBR	3930	HP:0001156	Brachydactyly
ORPHA:1426	LBR	3930	HP:0011800	Midface retrusion
ORPHA:1426	LBR	3930	HP:0001362	Calvarial skull defect
ORPHA:1426	LBR	3930	HP:0000926	Platyspondyly
ORPHA:1426	LBR	3930	HP:0000774	Narrow chest
ORPHA:1426	LBR	3930	HP:0009106	Abnormal pelvis bone ossification
OMIM:256810	MPV17	4358	HP:0001943	Hypoglycemia
OMIM:256810	MPV17	4358	HP:0001394	Cirrhosis
OMIM:256810	MPV17	4358	HP:0003593	Infantile onset
OMIM:256810	MPV17	4358	HP:0000639	Nystagmus
OMIM:256810	MPV17	4358	HP:0001508	Failure to thrive
OMIM:256810	MPV17	4358	HP:0002661	Painless fractures due to injury
OMIM:256810	MPV17	4358	HP:0002910	Elevated hepatic transaminases
OMIM:256810	MPV17	4358	HP:0007141	Sensorimotor neuropathy
OMIM:256810	MPV17	4358	HP:0001251	Ataxia
OMIM:256810	MPV17	4358	HP:0001403	Macrovesicular hepatic steatosis
OMIM:256810	MPV17	4358	HP:0003812	Phenotypic variability
OMIM:256810	MPV17	4358	HP:0002659	Increased susceptibility to fractures
OMIM:256810	MPV17	4358	HP:0002460	Distal muscle weakness
OMIM:256810	MPV17	4358	HP:0003676	Progressive
OMIM:256810	MPV17	4358	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures
OMIM:256810	MPV17	4358	HP:0002013	Vomiting
OMIM:256810	MPV17	4358	HP:0001284	Areflexia
OMIM:256810	MPV17	4358	HP:0004322	Short stature
OMIM:256810	MPV17	4358	HP:0001414	Microvesicular hepatic steatosis
OMIM:256810	MPV17	4358	HP:0007021	Pain insensitivity
OMIM:256810	MPV17	4358	HP:0001290	Generalized hypotonia
OMIM:256810	MPV17	4358	HP:0001226	Acral ulceration and osteomyelitis leading to autoamputation of digits
OMIM:256810	MPV17	4358	HP:0002240	Hepatomegaly
OMIM:256810	MPV17	4358	HP:0000495	Recurrent corneal erosions
OMIM:256810	MPV17	4358	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:256810	MPV17	4358	HP:0000007	Autosomal recessive inheritance
OMIM:256810	MPV17	4358	HP:0006582	Reye syndrome-like episodes
OMIM:256810	MPV17	4358	HP:0001263	Global developmental delay
OMIM:256810	MPV17	4358	HP:0001760	Abnormality of the foot
OMIM:256810	MPV17	4358	HP:0006554	Acute hepatic failure
OMIM:256810	MPV17	4358	HP:0001332	Dystonia
OMIM:256810	MPV17	4358	HP:0002014	Diarrhea
OMIM:256810	MPV17	4358	HP:0002715	Abnormality of the immune system
OMIM:256810	MPV17	4358	HP:0006579	Prolonged neonatal jaundice
OMIM:256810	MPV17	4358	HP:0003128	Lactic acidosis
OMIM:256810	MPV17	4358	HP:0001265	Hyporeflexia
OMIM:307030	GK	2710	HP:0000369	Low-set ears
OMIM:307030	GK	2710	HP:0001250	Seizures
OMIM:307030	GK	2710	HP:0002007	Frontal bossing
OMIM:307030	GK	2710	HP:0000939	Osteoporosis
OMIM:307030	GK	2710	HP:0000316	Hypertelorism
OMIM:307030	GK	2710	HP:0001423	X-linked dominant inheritance
OMIM:307030	GK	2710	HP:0000846	Adrenal insufficiency
OMIM:307030	GK	2710	HP:0002572	Episodic vomiting
OMIM:307030	GK	2710	HP:0003560	Muscular dystrophy
OMIM:307030	GK	2710	HP:0001518	Small for gestational age
OMIM:307030	GK	2710	HP:0000486	Strabismus
OMIM:307030	GK	2710	HP:0003198	Myopathy
OMIM:307030	GK	2710	HP:0008182	Adrenocortical hypoplasia
OMIM:307030	GK	2710	HP:0040301	Increased urinary glycerol
OMIM:307030	GK	2710	HP:0001943	Hypoglycemia
OMIM:307030	GK	2710	HP:0002714	Downturned corners of mouth
OMIM:307030	GK	2710	HP:0001942	Metabolic acidosis
OMIM:307030	GK	2710	HP:0002756	Pathologic fracture
OMIM:307030	GK	2710	HP:0004322	Short stature
OMIM:307030	GK	2710	HP:0001259	Coma
OMIM:307030	GK	2710	HP:0001263	Global developmental delay
OMIM:307030	GK	2710	HP:0002155	Hypertriglyceridemia
OMIM:307030	GK	2710	HP:0001254	Lethargy
OMIM:307030	GK	2710	HP:0001993	Ketoacidosis
OMIM:307030	GK	2710	HP:0001419	X-linked recessive inheritance
OMIM:307030	GK	2710	HP:0001249	Intellectual disability
OMIM:612908	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:612908	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:604537	LCA5	167691	HP:0000639	Nystagmus
OMIM:604537	LCA5	167691	HP:0000540	Hypermetropia
OMIM:604537	LCA5	167691	HP:0000505	Visual impairment
OMIM:604537	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:604537	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:227650	FANCA	2175	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCA	2175	HP:0000252	Microcephaly
OMIM:227650	FANCA	2175	HP:0001518	Small for gestational age
OMIM:227650	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCA	2175	HP:0001875	Neutropenia
OMIM:227650	FANCA	2175	HP:0001903	Anemia
OMIM:227650	FANCA	2175	HP:0003974	Absent radius
OMIM:227650	FANCA	2175	HP:0001017	Anemic pallor
OMIM:227650	FANCA	2175	HP:0000978	Bruising susceptibility
OMIM:227650	FANCA	2175	HP:0001249	Intellectual disability
OMIM:227650	FANCA	2175	HP:0000568	Microphthalmia
OMIM:227650	FANCA	2175	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:227650	FANCA	2175	HP:0004322	Short stature
OMIM:227650	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:227650	FANCA	2175	HP:0009778	Short thumb
OMIM:227650	FANCA	2175	HP:0001876	Pancytopenia
OMIM:227650	FANCA	2175	HP:0000486	Strabismus
OMIM:227650	FANCA	2175	HP:0001896	Reticulocytopenia
OMIM:227650	FANCA	2175	HP:0000365	Hearing impairment
OMIM:227650	FANCA	2175	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCA	2175	HP:0000086	Ectopic kidney
OMIM:227650	FANCA	2175	HP:0001627	Abnormal heart morphology
OMIM:227650	FANCA	2175	HP:0001909	Leukemia
OMIM:227650	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCA	2175	HP:0009777	Absent thumb
OMIM:227650	FANCA	2175	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCA	2175	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:227650	FANCA	2175	HP:0000081	Duplicated collecting system
OMIM:227650	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:227650	FANCA	2175	HP:0000104	Renal agenesis
OMIM:312700	RS1	6247	HP:0030502	Retinoschisis
OMIM:312700	RS1	6247	HP:0007667	Cystic retinal degeneration
OMIM:312700	RS1	6247	HP:0000529	Progressive visual loss
OMIM:312700	RS1	6247	HP:0001105	Retinal atrophy
OMIM:312700	RS1	6247	HP:0000540	Hypermetropia
OMIM:312700	RS1	6247	HP:0001423	X-linked dominant inheritance
OMIM:312700	RS1	6247	HP:0007401	Macular atrophy
OMIM:312700	RS1	6247	HP:0007984	Electronegative electroretinogram
OMIM:312700	RS1	6247	HP:0007722	Retinal pigment epithelial atrophy
OMIM:611879	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:251260	NBN	4683	HP:0002859	Rhabdomyosarcoma
OMIM:251260	NBN	4683	HP:0000347	Micrognathia
OMIM:251260	NBN	4683	HP:0001249	Intellectual disability
OMIM:251260	NBN	4683	HP:0000010	Recurrent urinary tract infections
OMIM:251260	NBN	4683	HP:0001511	Intrauterine growth retardation
OMIM:251260	NBN	4683	HP:0000175	Cleft palate
OMIM:251260	NBN	4683	HP:0000252	Microcephaly
OMIM:251260	NBN	4683	HP:0002837	Recurrent bronchitis
OMIM:251260	NBN	4683	HP:0004322	Short stature
OMIM:251260	NBN	4683	HP:0000453	Choanal atresia
OMIM:251260	NBN	4683	HP:0002110	Bronchiectasis
OMIM:251260	NBN	4683	HP:0000388	Otitis media
OMIM:251260	NBN	4683	HP:0000957	Cafe-au-lait spot
OMIM:251260	NBN	4683	HP:0000400	Macrotia
OMIM:251260	NBN	4683	HP:0004798	Recurrent infection of the gastrointestinal tract
OMIM:251260	NBN	4683	HP:0000246	Sinusitis
OMIM:251260	NBN	4683	HP:0009733	Glioma
OMIM:251260	NBN	4683	HP:0002961	Dysgammaglobulinemia
OMIM:251260	NBN	4683	HP:0005602	Progressive vitiligo
OMIM:251260	NBN	4683	HP:0003189	Long nose
OMIM:251260	NBN	4683	HP:0000126	Hydronephrosis
OMIM:251260	NBN	4683	HP:0000204	Cleft upper lip
OMIM:251260	NBN	4683	HP:0000340	Sloping forehead
OMIM:251260	NBN	4683	HP:0000752	Hyperactivity
OMIM:251260	NBN	4683	HP:0010620	Malar prominence
OMIM:251260	NBN	4683	HP:0002025	Anal stenosis
OMIM:251260	NBN	4683	HP:0002885	Medulloblastoma
OMIM:251260	NBN	4683	HP:0002665	Lymphoma
OMIM:251260	NBN	4683	HP:0002180	Neurodegeneration
OMIM:251260	NBN	4683	HP:0010976	B lymphocytopenia
OMIM:251260	NBN	4683	HP:0001890	Autoimmune hemolytic anemia
OMIM:251260	NBN	4683	HP:0001873	Thrombocytopenia
OMIM:251260	NBN	4683	HP:0008209	Premature ovarian insufficiency
OMIM:251260	NBN	4683	HP:0000265	Mastoiditis
OMIM:251260	NBN	4683	HP:0002023	Anal atresia
OMIM:251260	NBN	4683	HP:0006532	Recurrent pneumonia
OMIM:251260	NBN	4683	HP:0005403	Decrease in T cell count
OMIM:251260	NBN	4683	HP:0002014	Diarrhea
OMIM:251260	NBN	4683	HP:0000007	Autosomal recessive inheritance
OMIM:251260	NBN	4683	HP:0000582	Upslanted palpebral fissure
OMIM:613076	GFER	2671	HP:0003198	Myopathy
OMIM:613076	GFER	2671	HP:0008972	Decreased activity of mitochondrial respiratory chain
OMIM:613076	GFER	2671	HP:0000407	Sensorineural hearing impairment
OMIM:613076	GFER	2671	HP:0000518	Cataract
OMIM:613076	GFER	2671	HP:0000007	Autosomal recessive inheritance
OMIM:613076	GFER	2671	HP:0000519	Congenital cataract
OMIM:613076	GFER	2671	HP:0001263	Global developmental delay
OMIM:615583	PUF60	22827	HP:0000219	Thin upper lip vermilion
OMIM:615583	PUF60	22827	HP:0002937	Hemivertebrae
OMIM:615583	PUF60	22827	HP:0001263	Global developmental delay
OMIM:615583	PUF60	22827	HP:0011968	Feeding difficulties
OMIM:615583	PUF60	22827	HP:0000006	Autosomal dominant inheritance
OMIM:615583	PUF60	22827	HP:0030084	Clinodactyly
OMIM:615583	PUF60	22827	HP:0000252	Microcephaly
OMIM:615583	PUF60	22827	HP:0000341	Narrow forehead
OMIM:615583	PUF60	22827	HP:0003577	Congenital onset
OMIM:615583	PUF60	22827	HP:0000431	Wide nasal bridge
OMIM:615583	PUF60	22827	HP:0002948	Vertebral fusion
OMIM:615583	PUF60	22827	HP:0004322	Short stature
OMIM:615583	PUF60	22827	HP:0002059	Cerebral atrophy
OMIM:615583	PUF60	22827	HP:0000104	Renal agenesis
OMIM:615583	PUF60	22827	HP:0003812	Phenotypic variability
OMIM:615583	PUF60	22827	HP:0003196	Short nose
OMIM:615583	PUF60	22827	HP:0000343	Long philtrum
OMIM:615583	PUF60	22827	HP:0001671	Abnormality of the cardiac septa
OMIM:615583	PUF60	22827	HP:0000089	Renal hypoplasia
OMIM:615583	PUF60	22827	HP:0000470	Short neck
OMIM:615583	PUF60	22827	HP:0000589	Coloboma
OMIM:615583	PUF60	22827	HP:0002650	Scoliosis
OMIM:615583	PUF60	22827	HP:0009237	Short 5th finger
OMIM:615583	PUF60	22827	HP:0000107	Renal cyst
OMIM:615583	PUF60	22827	HP:0002827	Hip dislocation
OMIM:615980	LIPE	3991	HP:0000007	Autosomal recessive inheritance
OMIM:615980	LIPE	3991	HP:0009125	Lipodystrophy
OMIM:615980	LIPE	3991	HP:0012743	Abdominal obesity
OMIM:615980	LIPE	3991	HP:0000855	Insulin resistance
OMIM:615980	LIPE	3991	HP:0003119	Abnormality of lipid metabolism
OMIM:615980	LIPE	3991	HP:0001397	Hepatic steatosis
OMIM:607625	NPC2	10577	HP:0001249	Intellectual disability
OMIM:607625	NPC2	10577	HP:0000726	Dementia
OMIM:607625	NPC2	10577	HP:0002371	Loss of speech
OMIM:607625	NPC2	10577	HP:0001332	Dystonia
OMIM:607625	NPC2	10577	HP:0006579	Prolonged neonatal jaundice
OMIM:607625	NPC2	10577	HP:0001982	Sea-blue histiocytosis
OMIM:607625	NPC2	10577	HP:0030223	Perseveration
OMIM:607625	NPC2	10577	HP:0001744	Splenomegaly
OMIM:607625	NPC2	10577	HP:0003464	Abnormal cholesterol homeostasis
OMIM:607625	NPC2	10577	HP:0001425	Heterogeneous
OMIM:607625	NPC2	10577	HP:0000511	Vertical supranuclear gaze palsy
OMIM:607625	NPC2	10577	HP:0003349	Low cholesterol esterification rates
OMIM:607625	NPC2	10577	HP:0002015	Dysphagia
OMIM:607625	NPC2	10577	HP:0002524	Cataplexy
OMIM:607625	NPC2	10577	HP:0001257	Spasticity
OMIM:607625	NPC2	10577	HP:0001260	Dysarthria
OMIM:607625	NPC2	10577	HP:0002240	Hepatomegaly
OMIM:607625	NPC2	10577	HP:0004333	Bone-marrow foam cells
OMIM:607625	NPC2	10577	HP:0001263	Global developmental delay
OMIM:607625	NPC2	10577	HP:0001290	Generalized hypotonia
OMIM:607625	NPC2	10577	HP:0002878	Respiratory failure
OMIM:607625	NPC2	10577	HP:0001250	Seizures
OMIM:607625	NPC2	10577	HP:0001791	Fetal ascites
OMIM:607625	NPC2	10577	HP:0000007	Autosomal recessive inheritance
OMIM:607625	NPC2	10577	HP:0001251	Ataxia
OMIM:607625	NPC2	10577	HP:0003640	Foam cells in visceral organs and CNS
OMIM:607625	NPC2	10577	HP:0000733	Stereotypy
OMIM:607625	NPC2	10577	HP:0002185	Neurofibrillary tangles
OMIM:607625	NPC2	10577	HP:0000709	Psychosis
OMIM:607625	NPC2	10577	HP:0003674	Onset
OMIM:613610	WDR35	57539	HP:0000316	Hypertelorism
OMIM:613610	WDR35	57539	HP:0001159	Syndactyly
OMIM:613610	WDR35	57539	HP:0001388	Joint laxity
OMIM:613610	WDR35	57539	HP:0000767	Pectus excavatum
OMIM:613610	WDR35	57539	HP:0000774	Narrow chest
OMIM:613610	WDR35	57539	HP:0000691	Microdontia
OMIM:613610	WDR35	57539	HP:0000470	Short neck
OMIM:613610	WDR35	57539	HP:0000023	Inguinal hernia
OMIM:613610	WDR35	57539	HP:0000968	Ectodermal dysplasia
OMIM:613610	WDR35	57539	HP:0008070	Sparse hair
OMIM:613610	WDR35	57539	HP:0000377	Abnormality of the pinna
OMIM:613610	WDR35	57539	HP:0001156	Brachydactyly
OMIM:613610	WDR35	57539	HP:0008905	Rhizomelia
OMIM:613610	WDR35	57539	HP:0000232	Everted lower lip vermilion
OMIM:613610	WDR35	57539	HP:0000687	Widely spaced teeth
OMIM:613610	WDR35	57539	HP:0000268	Dolichocephaly
OMIM:613610	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:613610	WDR35	57539	HP:0000369	Low-set ears
OMIM:613610	WDR35	57539	HP:0000506	Telecanthus
OMIM:613610	WDR35	57539	HP:0000581	Blepharophimosis
OMIM:613610	WDR35	57539	HP:0001363	Craniosynostosis
OMIM:613610	WDR35	57539	HP:0002007	Frontal bossing
OMIM:300799	ZDHHC9	51114	HP:0001249	Intellectual disability
OMIM:300799	ZDHHC9	51114	HP:0000486	Strabismus
OMIM:300799	ZDHHC9	51114	HP:0001166	Arachnodactyly
OMIM:300799	ZDHHC9	51114	HP:0001417	X-linked inheritance
OMIM:300799	ZDHHC9	51114	HP:0009183	Joint contracture of the 5th finger
OMIM:300799	ZDHHC9	51114	HP:0001763	Pes planus
OMIM:300799	ZDHHC9	51114	HP:0000411	Protruding ear
OMIM:300799	ZDHHC9	51114	HP:0001519	Disproportionate tall stature
OMIM:300799	ZDHHC9	51114	HP:0000768	Pectus carinatum
OMIM:615272	ERCC4	2072	HP:0009777	Absent thumb
OMIM:615272	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:615272	ERCC4	2072	HP:0005912	Biliary atresia
OMIM:615272	ERCC4	2072	HP:0000252	Microcephaly
OMIM:615272	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:615272	ERCC4	2072	HP:0003812	Phenotypic variability
OMIM:615272	ERCC4	2072	HP:0000369	Low-set ears
OMIM:615272	ERCC4	2072	HP:0002032	Esophageal atresia
OMIM:615272	ERCC4	2072	HP:0003593	Infantile onset
OMIM:615272	ERCC4	2072	HP:0004322	Short stature
ORPHA:324708	APP	351	HP:0000726	Dementia
ORPHA:324708	APP	351	HP:0001288	Gait disturbance
ORPHA:324708	APP	351	HP:0000708	Behavioral abnormality
ORPHA:324708	APP	351	HP:0001297	Stroke
ORPHA:324708	APP	351	HP:0001336	Myoclonus
ORPHA:324708	APP	351	HP:0002015	Dysphagia
ORPHA:324708	APP	351	HP:0002354	Memory impairment
ORPHA:324708	APP	351	HP:0001342	Cerebral hemorrhage
OMIM:222900	SI	6476	HP:0002014	Diarrhea
OMIM:222900	SI	6476	HP:0000007	Autosomal recessive inheritance
OMIM:222900	SI	6476	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:222900	SI	6476	HP:0000787	Nephrolithiasis
OMIM:222900	SI	6476	HP:0002024	Malabsorption
OMIM:186550	PITX1	5307	HP:0006190	Radially deviated wrists
OMIM:186550	PITX1	5307	HP:0009183	Joint contracture of the 5th finger
OMIM:186550	PITX1	5307	HP:0000006	Autosomal dominant inheritance
OMIM:186550	PITX1	5307	HP:0002987	Elbow flexion contracture
OMIM:186550	PITX1	5307	HP:0001233	2-3 finger syndactyly
OMIM:186550	PITX1	5307	HP:0001156	Brachydactyly
OMIM:186550	PITX1	5307	HP:0001191	Abnormality of the carpal bones
OMIM:186550	PITX1	5307	HP:0003016	Metaphyseal widening
ORPHA:1552	MNX1	3110	HP:0030736	Sacrococcygeal teratoma
ORPHA:1552	MNX1	3110	HP:0008517	Aplasia/Hypoplasia of the sacrum
ORPHA:209981	TMPRSS6	164656	HP:0000962	Hyperkeratosis
ORPHA:209981	TMPRSS6	164656	HP:0001249	Intellectual disability
ORPHA:209981	TMPRSS6	164656	HP:0008064	Ichthyosis
ORPHA:209981	TMPRSS6	164656	HP:0009830	Peripheral neuropathy
ORPHA:209981	TMPRSS6	164656	HP:0011967	Hypocupremia
ORPHA:209981	TMPRSS6	164656	HP:0000980	Pallor
ORPHA:209981	TMPRSS6	164656	HP:0001406	Intrahepatic cholestasis
ORPHA:209981	TMPRSS6	164656	HP:0002242	Abnormality of the intestine
OMIM:169400	LBR	3930	HP:0000006	Autosomal dominant inheritance
OMIM:169400	LBR	3930	HP:0001263	Global developmental delay
OMIM:169400	LBR	3930	HP:0011220	Prominent forehead
OMIM:169400	LBR	3930	HP:0011447	Hyposegmentation of neutrophil nuclei
OMIM:169400	LBR	3930	HP:0002916	Abnormality of chromosome segregation
OMIM:169400	LBR	3930	HP:0010442	Polydactyly
ORPHA:91135	GGCX	2677	HP:0001102	Angioid streaks of the retina
ORPHA:91135	GGCX	2677	HP:0001582	Redundant skin
ORPHA:91135	GGCX	2677	HP:0001892	Abnormal bleeding
ORPHA:91135	GGCX	2677	HP:0001928	Abnormality of coagulation
ORPHA:91135	GGCX	2677	HP:0002621	Atherosclerosis
ORPHA:91135	GGCX	2677	HP:0200034	Papule
OMIM:607721	SHOC2	8036	HP:0000256	Macrocephaly
OMIM:607721	SHOC2	8036	HP:0002209	Sparse scalp hair
OMIM:607721	SHOC2	8036	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607721	SHOC2	8036	HP:0000006	Autosomal dominant inheritance
OMIM:607721	SHOC2	8036	HP:0000470	Short neck
OMIM:607721	SHOC2	8036	HP:0011220	Prominent forehead
OMIM:607721	SHOC2	8036	HP:0001561	Polyhydramnios
OMIM:607721	SHOC2	8036	HP:0000316	Hypertelorism
OMIM:607721	SHOC2	8036	HP:0000465	Webbed neck
OMIM:607721	SHOC2	8036	HP:0001631	Atrial septal defect
OMIM:607721	SHOC2	8036	HP:0004322	Short stature
OMIM:607721	SHOC2	8036	HP:0000358	Posteriorly rotated ears
OMIM:607721	SHOC2	8036	HP:0000369	Low-set ears
OMIM:607721	SHOC2	8036	HP:0040169	Loose anagen hair
OMIM:607721	SHOC2	8036	HP:0000752	Hyperactivity
OMIM:607721	SHOC2	8036	HP:0001629	Ventricular septal defect
OMIM:607721	SHOC2	8036	HP:0000486	Strabismus
OMIM:607721	SHOC2	8036	HP:0001249	Intellectual disability
OMIM:607721	SHOC2	8036	HP:0001642	Pulmonic stenosis
OMIM:616602	ZIC1	7545	HP:0000316	Hypertelorism
OMIM:616602	ZIC1	7545	HP:0000248	Brachycephaly
OMIM:616602	ZIC1	7545	HP:0001363	Craniosynostosis
OMIM:616602	ZIC1	7545	HP:0001290	Generalized hypotonia
OMIM:616602	ZIC1	7545	HP:0000006	Autosomal dominant inheritance
OMIM:616602	ZIC1	7545	HP:0001274	Agenesis of corpus callosum
OMIM:616602	ZIC1	7545	HP:0001263	Global developmental delay
OMIM:616602	ZIC1	7545	HP:0001272	Cerebellar atrophy
ORPHA:124	TSR2	90121	HP:0011675	Arrhythmia
ORPHA:124	TSR2	90121	HP:0000175	Cleft palate
ORPHA:124	TSR2	90121	HP:0001155	Abnormality of the hand
ORPHA:124	TSR2	90121	HP:0002076	Migraine
ORPHA:124	TSR2	90121	HP:0012378	Fatigue
ORPHA:124	TSR2	90121	HP:0000078	Abnormality of the genital system
ORPHA:124	TSR2	90121	HP:0000823	Delayed puberty
ORPHA:124	TSR2	90121	HP:0001972	Macrocytic anemia
ORPHA:124	TSR2	90121	HP:0000079	Abnormality of the urinary system
ORPHA:124	TSR2	90121	HP:0000980	Pallor
ORPHA:124	RPS17	6218	HP:0011675	Arrhythmia
ORPHA:124	RPS17	6218	HP:0000175	Cleft palate
ORPHA:124	RPS17	6218	HP:0001155	Abnormality of the hand
ORPHA:124	RPS17	6218	HP:0002076	Migraine
ORPHA:124	RPS17	6218	HP:0012378	Fatigue
ORPHA:124	RPS17	6218	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS17	6218	HP:0000823	Delayed puberty
ORPHA:124	RPS17	6218	HP:0001972	Macrocytic anemia
ORPHA:124	RPS17	6218	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS17	6218	HP:0000980	Pallor
ORPHA:124	RPL26	6154	HP:0011675	Arrhythmia
ORPHA:124	RPL26	6154	HP:0000175	Cleft palate
ORPHA:124	RPL26	6154	HP:0001155	Abnormality of the hand
ORPHA:124	RPL26	6154	HP:0002076	Migraine
ORPHA:124	RPL26	6154	HP:0012378	Fatigue
ORPHA:124	RPL26	6154	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL26	6154	HP:0000823	Delayed puberty
ORPHA:124	RPL26	6154	HP:0001972	Macrocytic anemia
ORPHA:124	RPL26	6154	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL26	6154	HP:0000980	Pallor
ORPHA:124	RPL27	6155	HP:0011675	Arrhythmia
ORPHA:124	RPL27	6155	HP:0000175	Cleft palate
ORPHA:124	RPL27	6155	HP:0001155	Abnormality of the hand
ORPHA:124	RPL27	6155	HP:0002076	Migraine
ORPHA:124	RPL27	6155	HP:0012378	Fatigue
ORPHA:124	RPL27	6155	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL27	6155	HP:0000823	Delayed puberty
ORPHA:124	RPL27	6155	HP:0001972	Macrocytic anemia
ORPHA:124	RPL27	6155	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL27	6155	HP:0000980	Pallor
ORPHA:124	RPL5	6125	HP:0011675	Arrhythmia
ORPHA:124	RPL5	6125	HP:0000175	Cleft palate
ORPHA:124	RPL5	6125	HP:0001155	Abnormality of the hand
ORPHA:124	RPL5	6125	HP:0002076	Migraine
ORPHA:124	RPL5	6125	HP:0012378	Fatigue
ORPHA:124	RPL5	6125	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL5	6125	HP:0000823	Delayed puberty
ORPHA:124	RPL5	6125	HP:0001972	Macrocytic anemia
ORPHA:124	RPL5	6125	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL5	6125	HP:0000980	Pallor
ORPHA:124	RPS19	6223	HP:0011675	Arrhythmia
ORPHA:124	RPS19	6223	HP:0000175	Cleft palate
ORPHA:124	RPS19	6223	HP:0001155	Abnormality of the hand
ORPHA:124	RPS19	6223	HP:0002076	Migraine
ORPHA:124	RPS19	6223	HP:0012378	Fatigue
ORPHA:124	RPS19	6223	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS19	6223	HP:0000823	Delayed puberty
ORPHA:124	RPS19	6223	HP:0001972	Macrocytic anemia
ORPHA:124	RPS19	6223	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS19	6223	HP:0000980	Pallor
ORPHA:124	RPS24	6229	HP:0011675	Arrhythmia
ORPHA:124	RPS24	6229	HP:0000175	Cleft palate
ORPHA:124	RPS24	6229	HP:0001155	Abnormality of the hand
ORPHA:124	RPS24	6229	HP:0002076	Migraine
ORPHA:124	RPS24	6229	HP:0012378	Fatigue
ORPHA:124	RPS24	6229	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS24	6229	HP:0000823	Delayed puberty
ORPHA:124	RPS24	6229	HP:0001972	Macrocytic anemia
ORPHA:124	RPS24	6229	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS24	6229	HP:0000980	Pallor
ORPHA:124	RPL35A	6165	HP:0011675	Arrhythmia
ORPHA:124	RPL35A	6165	HP:0000175	Cleft palate
ORPHA:124	RPL35A	6165	HP:0001155	Abnormality of the hand
ORPHA:124	RPL35A	6165	HP:0002076	Migraine
ORPHA:124	RPL35A	6165	HP:0012378	Fatigue
ORPHA:124	RPL35A	6165	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL35A	6165	HP:0000823	Delayed puberty
ORPHA:124	RPL35A	6165	HP:0001972	Macrocytic anemia
ORPHA:124	RPL35A	6165	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL35A	6165	HP:0000980	Pallor
ORPHA:124	RPL11	6135	HP:0011675	Arrhythmia
ORPHA:124	RPL11	6135	HP:0000175	Cleft palate
ORPHA:124	RPL11	6135	HP:0001155	Abnormality of the hand
ORPHA:124	RPL11	6135	HP:0002076	Migraine
ORPHA:124	RPL11	6135	HP:0012378	Fatigue
ORPHA:124	RPL11	6135	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL11	6135	HP:0000823	Delayed puberty
ORPHA:124	RPL11	6135	HP:0001972	Macrocytic anemia
ORPHA:124	RPL11	6135	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL11	6135	HP:0000980	Pallor
ORPHA:124	RPS26	6231	HP:0011675	Arrhythmia
ORPHA:124	RPS26	6231	HP:0000175	Cleft palate
ORPHA:124	RPS26	6231	HP:0001155	Abnormality of the hand
ORPHA:124	RPS26	6231	HP:0002076	Migraine
ORPHA:124	RPS26	6231	HP:0012378	Fatigue
ORPHA:124	RPS26	6231	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS26	6231	HP:0000823	Delayed puberty
ORPHA:124	RPS26	6231	HP:0001972	Macrocytic anemia
ORPHA:124	RPS26	6231	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS26	6231	HP:0000980	Pallor
ORPHA:124	RPS27	6232	HP:0011675	Arrhythmia
ORPHA:124	RPS27	6232	HP:0000175	Cleft palate
ORPHA:124	RPS27	6232	HP:0001155	Abnormality of the hand
ORPHA:124	RPS27	6232	HP:0002076	Migraine
ORPHA:124	RPS27	6232	HP:0012378	Fatigue
ORPHA:124	RPS27	6232	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS27	6232	HP:0000823	Delayed puberty
ORPHA:124	RPS27	6232	HP:0001972	Macrocytic anemia
ORPHA:124	RPS27	6232	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS27	6232	HP:0000980	Pallor
ORPHA:124	RPS7	6201	HP:0011675	Arrhythmia
ORPHA:124	RPS7	6201	HP:0000175	Cleft palate
ORPHA:124	RPS7	6201	HP:0001155	Abnormality of the hand
ORPHA:124	RPS7	6201	HP:0002076	Migraine
ORPHA:124	RPS7	6201	HP:0012378	Fatigue
ORPHA:124	RPS7	6201	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS7	6201	HP:0000823	Delayed puberty
ORPHA:124	RPS7	6201	HP:0001972	Macrocytic anemia
ORPHA:124	RPS7	6201	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS7	6201	HP:0000980	Pallor
ORPHA:124	RPL15	6138	HP:0011675	Arrhythmia
ORPHA:124	RPL15	6138	HP:0000175	Cleft palate
ORPHA:124	RPL15	6138	HP:0001155	Abnormality of the hand
ORPHA:124	RPL15	6138	HP:0002076	Migraine
ORPHA:124	RPL15	6138	HP:0012378	Fatigue
ORPHA:124	RPL15	6138	HP:0000078	Abnormality of the genital system
ORPHA:124	RPL15	6138	HP:0000823	Delayed puberty
ORPHA:124	RPL15	6138	HP:0001972	Macrocytic anemia
ORPHA:124	RPL15	6138	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPL15	6138	HP:0000980	Pallor
ORPHA:124	RPS28	6234	HP:0011675	Arrhythmia
ORPHA:124	RPS28	6234	HP:0000175	Cleft palate
ORPHA:124	RPS28	6234	HP:0001155	Abnormality of the hand
ORPHA:124	RPS28	6234	HP:0002076	Migraine
ORPHA:124	RPS28	6234	HP:0012378	Fatigue
ORPHA:124	RPS28	6234	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS28	6234	HP:0000823	Delayed puberty
ORPHA:124	RPS28	6234	HP:0001972	Macrocytic anemia
ORPHA:124	RPS28	6234	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS28	6234	HP:0000980	Pallor
ORPHA:124	RPS29	6235	HP:0011675	Arrhythmia
ORPHA:124	RPS29	6235	HP:0000175	Cleft palate
ORPHA:124	RPS29	6235	HP:0001155	Abnormality of the hand
ORPHA:124	RPS29	6235	HP:0002076	Migraine
ORPHA:124	RPS29	6235	HP:0012378	Fatigue
ORPHA:124	RPS29	6235	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS29	6235	HP:0000823	Delayed puberty
ORPHA:124	RPS29	6235	HP:0001972	Macrocytic anemia
ORPHA:124	RPS29	6235	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS29	6235	HP:0000980	Pallor
ORPHA:124	RPS10	6204	HP:0011675	Arrhythmia
ORPHA:124	RPS10	6204	HP:0000175	Cleft palate
ORPHA:124	RPS10	6204	HP:0001155	Abnormality of the hand
ORPHA:124	RPS10	6204	HP:0002076	Migraine
ORPHA:124	RPS10	6204	HP:0012378	Fatigue
ORPHA:124	RPS10	6204	HP:0000078	Abnormality of the genital system
ORPHA:124	RPS10	6204	HP:0000823	Delayed puberty
ORPHA:124	RPS10	6204	HP:0001972	Macrocytic anemia
ORPHA:124	RPS10	6204	HP:0000079	Abnormality of the urinary system
ORPHA:124	RPS10	6204	HP:0000980	Pallor
ORPHA:124	GATA1	2623	HP:0011675	Arrhythmia
ORPHA:124	GATA1	2623	HP:0000175	Cleft palate
ORPHA:124	GATA1	2623	HP:0001155	Abnormality of the hand
ORPHA:124	GATA1	2623	HP:0002076	Migraine
ORPHA:124	GATA1	2623	HP:0012378	Fatigue
ORPHA:124	GATA1	2623	HP:0000078	Abnormality of the genital system
ORPHA:124	GATA1	2623	HP:0000823	Delayed puberty
ORPHA:124	GATA1	2623	HP:0001972	Macrocytic anemia
ORPHA:124	GATA1	2623	HP:0000079	Abnormality of the urinary system
ORPHA:124	GATA1	2623	HP:0000980	Pallor
ORPHA:2896	TCF4	6925	HP:0000692	Misalignment of teeth
ORPHA:2896	TCF4	6925	HP:0000490	Deeply set eye
ORPHA:2896	TCF4	6925	HP:0000545	Myopia
ORPHA:2896	TCF4	6925	HP:0002357	Dysphasia
ORPHA:2896	TCF4	6925	HP:0001328	Specific learning disability
ORPHA:2896	TCF4	6925	HP:0001510	Growth delay
ORPHA:2896	TCF4	6925	HP:0000174	Abnormality of the palate
ORPHA:2896	TCF4	6925	HP:0006352	Failure of eruption of permanent teeth
ORPHA:2896	TCF4	6925	HP:0001508	Failure to thrive
ORPHA:2896	TCF4	6925	HP:0002036	Hiatus hernia
ORPHA:2896	TCF4	6925	HP:0002300	Mutism
ORPHA:2896	TCF4	6925	HP:0001252	Muscular hypotonia
ORPHA:2896	TCF4	6925	HP:0000028	Cryptorchidism
ORPHA:2896	TCF4	6925	HP:0001182	Tapered finger
ORPHA:2896	TCF4	6925	HP:0012471	Thick vermilion border
ORPHA:2896	TCF4	6925	HP:0002020	Gastroesophageal reflux
ORPHA:2896	TCF4	6925	HP:0001250	Seizures
ORPHA:2896	TCF4	6925	HP:0002019	Constipation
ORPHA:2896	TCF4	6925	HP:0000252	Microcephaly
ORPHA:2896	TCF4	6925	HP:0001251	Ataxia
ORPHA:2896	TCF4	6925	HP:0000154	Wide mouth
ORPHA:2896	TCF4	6925	HP:0002381	Aphasia
ORPHA:2896	TCF4	6925	HP:0001263	Global developmental delay
ORPHA:2896	TCF4	6925	HP:0000391	Thickened helices
ORPHA:2896	TCF4	6925	HP:0001249	Intellectual disability
ORPHA:2896	TCF4	6925	HP:0100633	Esophagitis
ORPHA:2896	TCF4	6925	HP:0000463	Anteverted nares
ORPHA:2896	TCF4	6925	HP:0010529	Echolalia
ORPHA:2896	TCF4	6925	HP:0010535	Sleep apnea
ORPHA:2896	TCF4	6925	HP:0011968	Feeding difficulties
ORPHA:543	MYC	4609	HP:0002149	Hyperuricemia
ORPHA:543	MYC	4609	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:543	MYC	4609	HP:0100649	Neoplasm of the oral cavity
OMIM:613825	C9	735	HP:0012308	Decreased serum complement C9
OMIM:118600	ANKH	56172	HP:0000006	Autosomal dominant inheritance
OMIM:118600	ANKH	56172	HP:0003040	Arthropathy
OMIM:118600	ANKH	56172	HP:0002758	Osteoarthritis
OMIM:118600	ANKH	56172	HP:0003581	Adult onset
OMIM:118600	ANKH	56172	HP:0005017	Polyarticular chondrocalcinosis
OMIM:612098	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:612098	ACTC1	70	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300238	RBMX	27316	HP:0000336	Prominent supraorbital ridges
OMIM:300238	RBMX	27316	HP:0000179	Thick lower lip vermilion
OMIM:300238	RBMX	27316	HP:0000400	Macrotia
OMIM:300238	RBMX	27316	HP:0000629	Periorbital fullness
OMIM:300238	RBMX	27316	HP:0000414	Bulbous nose
OMIM:300238	RBMX	27316	HP:0001328	Specific learning disability
OMIM:300238	RBMX	27316	HP:0000581	Blepharophimosis
OMIM:300238	RBMX	27316	HP:0000053	Macroorchidism
OMIM:300238	RBMX	27316	HP:0001419	X-linked recessive inheritance
OMIM:300238	RBMX	27316	HP:0000280	Coarse facial features
OMIM:300238	RBMX	27316	HP:0002342	Intellectual disability, moderate
OMIM:300238	RBMX	27316	HP:0001513	Obesity
OMIM:616154	FAR1	84188	HP:0000219	Thin upper lip vermilion
OMIM:616154	FAR1	84188	HP:0002553	Highly arched eyebrow
OMIM:616154	FAR1	84188	HP:0001257	Spasticity
OMIM:616154	FAR1	84188	HP:0001249	Intellectual disability
OMIM:616154	FAR1	84188	HP:0000007	Autosomal recessive inheritance
OMIM:616154	FAR1	84188	HP:0000518	Cataract
OMIM:616154	FAR1	84188	HP:0001263	Global developmental delay
OMIM:616154	FAR1	84188	HP:0000343	Long philtrum
OMIM:616154	FAR1	84188	HP:0001290	Generalized hypotonia
OMIM:616154	FAR1	84188	HP:0000252	Microcephaly
OMIM:616154	FAR1	84188	HP:0000280	Coarse facial features
OMIM:616154	FAR1	84188	HP:0001250	Seizures
OMIM:616154	FAR1	84188	HP:0001510	Growth delay
OMIM:616154	FAR1	84188	HP:0000400	Macrotia
ORPHA:417	CASR	846	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHA:417	CASR	846	HP:0002757	Recurrent fractures
ORPHA:417	CASR	846	HP:0004322	Short stature
ORPHA:417	CASR	846	HP:0003355	Aminoaciduria
ORPHA:417	CASR	846	HP:0001252	Muscular hypotonia
ORPHA:417	CASR	846	HP:0000774	Narrow chest
ORPHA:417	CASR	846	HP:0001744	Splenomegaly
ORPHA:417	CASR	846	HP:0000944	Abnormality of the metaphysis
ORPHA:417	CASR	846	HP:0000820	Abnormality of the thyroid gland
ORPHA:417	CASR	846	HP:0002240	Hepatomegaly
ORPHA:33069	SCN1A	6323	HP:0001252	Muscular hypotonia
ORPHA:33069	SCN1A	6323	HP:0001337	Tremor
ORPHA:33069	SCN1A	6323	HP:0002266	Focal clonic seizures
ORPHA:33069	SCN1A	6323	HP:0002373	Febrile seizures
ORPHA:33069	SCN1A	6323	HP:0025356	Pschomotor retardation
ORPHA:33069	SCN1A	6323	HP:0011151	Obtundation status
ORPHA:33069	SCN1A	6323	HP:0012758	Neurodevelopmental delay
ORPHA:33069	SCN1A	6323	HP:0001251	Ataxia
ORPHA:33069	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	SCN1A	6323	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	SCN1A	6323	HP:0002353	EEG abnormality
ORPHA:33069	SCN1B	6324	HP:0001252	Muscular hypotonia
ORPHA:33069	SCN1B	6324	HP:0001337	Tremor
ORPHA:33069	SCN1B	6324	HP:0002266	Focal clonic seizures
ORPHA:33069	SCN1B	6324	HP:0002373	Febrile seizures
ORPHA:33069	SCN1B	6324	HP:0025356	Pschomotor retardation
ORPHA:33069	SCN1B	6324	HP:0011151	Obtundation status
ORPHA:33069	SCN1B	6324	HP:0012758	Neurodevelopmental delay
ORPHA:33069	SCN1B	6324	HP:0001251	Ataxia
ORPHA:33069	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	SCN1B	6324	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	SCN1B	6324	HP:0002353	EEG abnormality
ORPHA:33069	SCN2A	6326	HP:0001252	Muscular hypotonia
ORPHA:33069	SCN2A	6326	HP:0001337	Tremor
ORPHA:33069	SCN2A	6326	HP:0002266	Focal clonic seizures
ORPHA:33069	SCN2A	6326	HP:0002373	Febrile seizures
ORPHA:33069	SCN2A	6326	HP:0025356	Pschomotor retardation
ORPHA:33069	SCN2A	6326	HP:0011151	Obtundation status
ORPHA:33069	SCN2A	6326	HP:0012758	Neurodevelopmental delay
ORPHA:33069	SCN2A	6326	HP:0001251	Ataxia
ORPHA:33069	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	SCN2A	6326	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	SCN2A	6326	HP:0002353	EEG abnormality
ORPHA:33069	GABRG2	2566	HP:0001252	Muscular hypotonia
ORPHA:33069	GABRG2	2566	HP:0001337	Tremor
ORPHA:33069	GABRG2	2566	HP:0002266	Focal clonic seizures
ORPHA:33069	GABRG2	2566	HP:0002373	Febrile seizures
ORPHA:33069	GABRG2	2566	HP:0025356	Pschomotor retardation
ORPHA:33069	GABRG2	2566	HP:0011151	Obtundation status
ORPHA:33069	GABRG2	2566	HP:0012758	Neurodevelopmental delay
ORPHA:33069	GABRG2	2566	HP:0001251	Ataxia
ORPHA:33069	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	GABRG2	2566	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	GABRG2	2566	HP:0002353	EEG abnormality
ORPHA:33069	PCDH19	57526	HP:0001252	Muscular hypotonia
ORPHA:33069	PCDH19	57526	HP:0001337	Tremor
ORPHA:33069	PCDH19	57526	HP:0002266	Focal clonic seizures
ORPHA:33069	PCDH19	57526	HP:0002373	Febrile seizures
ORPHA:33069	PCDH19	57526	HP:0025356	Pschomotor retardation
ORPHA:33069	PCDH19	57526	HP:0011151	Obtundation status
ORPHA:33069	PCDH19	57526	HP:0012758	Neurodevelopmental delay
ORPHA:33069	PCDH19	57526	HP:0001251	Ataxia
ORPHA:33069	PCDH19	57526	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	PCDH19	57526	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	PCDH19	57526	HP:0002353	EEG abnormality
ORPHA:33069	GABRA1	2554	HP:0001252	Muscular hypotonia
ORPHA:33069	GABRA1	2554	HP:0001337	Tremor
ORPHA:33069	GABRA1	2554	HP:0002266	Focal clonic seizures
ORPHA:33069	GABRA1	2554	HP:0002373	Febrile seizures
ORPHA:33069	GABRA1	2554	HP:0025356	Pschomotor retardation
ORPHA:33069	GABRA1	2554	HP:0011151	Obtundation status
ORPHA:33069	GABRA1	2554	HP:0012758	Neurodevelopmental delay
ORPHA:33069	GABRA1	2554	HP:0001251	Ataxia
ORPHA:33069	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	GABRA1	2554	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	GABRA1	2554	HP:0002353	EEG abnormality
ORPHA:33069	STXBP1	6812	HP:0001252	Muscular hypotonia
ORPHA:33069	STXBP1	6812	HP:0001337	Tremor
ORPHA:33069	STXBP1	6812	HP:0002266	Focal clonic seizures
ORPHA:33069	STXBP1	6812	HP:0002373	Febrile seizures
ORPHA:33069	STXBP1	6812	HP:0025356	Pschomotor retardation
ORPHA:33069	STXBP1	6812	HP:0011151	Obtundation status
ORPHA:33069	STXBP1	6812	HP:0012758	Neurodevelopmental delay
ORPHA:33069	STXBP1	6812	HP:0001251	Ataxia
ORPHA:33069	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	STXBP1	6812	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	STXBP1	6812	HP:0002353	EEG abnormality
ORPHA:33069	SCN9A	6335	HP:0001252	Muscular hypotonia
ORPHA:33069	SCN9A	6335	HP:0001337	Tremor
ORPHA:33069	SCN9A	6335	HP:0002266	Focal clonic seizures
ORPHA:33069	SCN9A	6335	HP:0002373	Febrile seizures
ORPHA:33069	SCN9A	6335	HP:0025356	Pschomotor retardation
ORPHA:33069	SCN9A	6335	HP:0011151	Obtundation status
ORPHA:33069	SCN9A	6335	HP:0012758	Neurodevelopmental delay
ORPHA:33069	SCN9A	6335	HP:0001251	Ataxia
ORPHA:33069	SCN9A	6335	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	SCN9A	6335	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	SCN9A	6335	HP:0002353	EEG abnormality
OMIM:613162	NT5C2	22978	HP:0001270	Motor delay
OMIM:613162	NT5C2	22978	HP:0001371	Flexion contracture
OMIM:613162	NT5C2	22978	HP:0002064	Spastic gait
OMIM:613162	NT5C2	22978	HP:0000545	Myopia
OMIM:613162	NT5C2	22978	HP:0000639	Nystagmus
OMIM:613162	NT5C2	22978	HP:0003487	Babinski sign
OMIM:613162	NT5C2	22978	HP:0000007	Autosomal recessive inheritance
OMIM:613162	NT5C2	22978	HP:0000648	Optic atrophy
OMIM:613162	NT5C2	22978	HP:0006989	Dysplastic corpus callosum
OMIM:613162	NT5C2	22978	HP:0001249	Intellectual disability
OMIM:613162	NT5C2	22978	HP:0001258	Spastic paraplegia
OMIM:613162	NT5C2	22978	HP:0001347	Hyperreflexia
OMIM:613162	NT5C2	22978	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616817	PPP1R15B	84919	HP:0000252	Microcephaly
OMIM:616817	PPP1R15B	84919	HP:0000823	Delayed puberty
OMIM:616817	PPP1R15B	84919	HP:0003468	Abnormal vertebral morphology
OMIM:616817	PPP1R15B	84919	HP:0001257	Spasticity
OMIM:616817	PPP1R15B	84919	HP:0001348	Brisk reflexes
OMIM:616817	PPP1R15B	84919	HP:0004322	Short stature
OMIM:616817	PPP1R15B	84919	HP:0008070	Sparse hair
OMIM:616817	PPP1R15B	84919	HP:0001250	Seizures
OMIM:616817	PPP1R15B	84919	HP:0003812	Phenotypic variability
OMIM:616817	PPP1R15B	84919	HP:0001988	Recurrent hypoglycemia
OMIM:616817	PPP1R15B	84919	HP:0010864	Intellectual disability, severe
OMIM:616817	PPP1R15B	84919	HP:0001511	Intrauterine growth retardation
OMIM:616817	PPP1R15B	84919	HP:0000007	Autosomal recessive inheritance
OMIM:616817	PPP1R15B	84919	HP:0002066	Gait ataxia
OMIM:616817	PPP1R15B	84919	HP:0001260	Dysarthria
OMIM:616817	PPP1R15B	84919	HP:0001620	High pitched voice
OMIM:616817	PPP1R15B	84919	HP:0000767	Pectus excavatum
OMIM:616817	PPP1R15B	84919	HP:0001518	Small for gestational age
OMIM:616817	PPP1R15B	84919	HP:0030186	Kinetic tremor
OMIM:616817	PPP1R15B	84919	HP:0000365	Hearing impairment
OMIM:616817	PPP1R15B	84919	HP:0000677	Oligodontia
OMIM:616817	PPP1R15B	84919	HP:0002751	Kyphoscoliosis
OMIM:616817	PPP1R15B	84919	HP:0002213	Fine hair
OMIM:259450	FKBP10	60681	HP:0006466	Ankle contracture
OMIM:259450	FKBP10	60681	HP:0002987	Elbow flexion contracture
OMIM:259450	FKBP10	60681	HP:0001059	Pterygium
OMIM:259450	FKBP10	60681	HP:0001388	Joint laxity
OMIM:259450	FKBP10	60681	HP:0002812	Coxa vara
OMIM:259450	FKBP10	60681	HP:0008422	Vertebral wedging
OMIM:259450	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:259450	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:259450	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:259450	FKBP10	60681	HP:0003273	Hip contracture
OMIM:259450	FKBP10	60681	HP:0002808	Kyphosis
OMIM:259450	FKBP10	60681	HP:0004322	Short stature
OMIM:259450	FKBP10	60681	HP:0006380	Knee flexion contracture
OMIM:259450	FKBP10	60681	HP:0000939	Osteoporosis
OMIM:259450	FKBP10	60681	HP:0001762	Talipes equinovarus
OMIM:259450	FKBP10	60681	HP:0002650	Scoliosis
OMIM:259450	FKBP10	60681	HP:0003179	Protrusio acetabuli
OMIM:259450	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:269921	GNE	10020	HP:0002230	Generalized hirsutism
OMIM:269921	GNE	10020	HP:0010535	Sleep apnea
OMIM:269921	GNE	10020	HP:0000319	Smooth philtrum
OMIM:269921	GNE	10020	HP:0002240	Hepatomegaly
OMIM:269921	GNE	10020	HP:0004691	2-3 toe syndactyly
OMIM:269921	GNE	10020	HP:0002557	Hypoplastic nipples
OMIM:269921	GNE	10020	HP:0002162	Low posterior hairline
OMIM:269921	GNE	10020	HP:0000280	Coarse facial features
OMIM:269921	GNE	10020	HP:0001250	Seizures
OMIM:269921	GNE	10020	HP:0001538	Protuberant abdomen
OMIM:269921	GNE	10020	HP:0000664	Synophrys
OMIM:269921	GNE	10020	HP:0005257	Thoracic hypoplasia
OMIM:269921	GNE	10020	HP:0000006	Autosomal dominant inheritance
OMIM:269921	GNE	10020	HP:0000218	High palate
OMIM:269921	GNE	10020	HP:0000369	Low-set ears
OMIM:269921	GNE	10020	HP:0000316	Hypertelorism
OMIM:269921	GNE	10020	HP:0000629	Periorbital fullness
OMIM:269921	GNE	10020	HP:0000343	Long philtrum
OMIM:269921	GNE	10020	HP:0001744	Splenomegaly
OMIM:269921	GNE	10020	HP:0001847	Long hallux
OMIM:269921	GNE	10020	HP:0007018	Attention deficit hyperactivity disorder
OMIM:269921	GNE	10020	HP:0011220	Prominent forehead
OMIM:269921	GNE	10020	HP:0002650	Scoliosis
OMIM:269921	GNE	10020	HP:0000023	Inguinal hernia
OMIM:269921	GNE	10020	HP:0002007	Frontal bossing
OMIM:269921	GNE	10020	HP:0000431	Wide nasal bridge
OMIM:269921	GNE	10020	HP:0000286	Epicanthus
OMIM:269921	GNE	10020	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:269921	GNE	10020	HP:0001263	Global developmental delay
OMIM:269921	GNE	10020	HP:0000219	Thin upper lip vermilion
OMIM:606346	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
ORPHA:245	SF3B4	10262	HP:0002652	Skeletal dysplasia
ORPHA:245	SF3B4	10262	HP:0005105	Abnormal nasal morphology
ORPHA:245	SF3B4	10262	HP:0000175	Cleft palate
ORPHA:245	SF3B4	10262	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:245	SF3B4	10262	HP:0000508	Ptosis
ORPHA:245	SF3B4	10262	HP:0000347	Micrognathia
ORPHA:245	SF3B4	10262	HP:0000413	Atresia of the external auditory canal
ORPHA:245	SF3B4	10262	HP:0000652	Lower eyelid coloboma
ORPHA:245	SF3B4	10262	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:245	SF3B4	10262	HP:0000494	Downslanted palpebral fissures
ORPHA:245	SF3B4	10262	HP:0000750	Delayed speech and language development
ORPHA:245	SF3B4	10262	HP:0000154	Wide mouth
ORPHA:245	SF3B4	10262	HP:0002984	Hypoplasia of the radius
ORPHA:245	SF3B4	10262	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:245	SF3B4	10262	HP:0000365	Hearing impairment
ORPHA:245	SF3B4	10262	HP:0008551	Microtia
ORPHA:245	SF3B4	10262	HP:0002093	Respiratory insufficiency
ORPHA:245	SF3B4	10262	HP:0007776	Sparse lower eyelashes
ORPHA:245	SF3B4	10262	HP:0001387	Joint stiffness
ORPHA:245	SF3B4	10262	HP:0000327	Hypoplasia of the maxilla
OMIM:614707	SLC52A2	79581	HP:0003700	Generalized amyotrophy
OMIM:614707	SLC52A2	79581	HP:0001290	Generalized hypotonia
OMIM:614707	SLC52A2	79581	HP:0010628	Facial palsy
OMIM:614707	SLC52A2	79581	HP:0001251	Ataxia
OMIM:614707	SLC52A2	79581	HP:0002093	Respiratory insufficiency
OMIM:614707	SLC52A2	79581	HP:0002312	Clumsiness
OMIM:614707	SLC52A2	79581	HP:0002375	Hypokinesia
OMIM:614707	SLC52A2	79581	HP:0003676	Progressive
OMIM:614707	SLC52A2	79581	HP:0000467	Neck muscle weakness
OMIM:614707	SLC52A2	79581	HP:0001171	Split hand
OMIM:614707	SLC52A2	79581	HP:0001283	Bulbar palsy
OMIM:614707	SLC52A2	79581	HP:0001284	Areflexia
OMIM:614707	SLC52A2	79581	HP:0003828	Variable expressivity
OMIM:614707	SLC52A2	79581	HP:0000007	Autosomal recessive inheritance
OMIM:614707	SLC52A2	79581	HP:0000407	Sensorineural hearing impairment
OMIM:614707	SLC52A2	79581	HP:0001308	Tongue fasciculations
OMIM:613428	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613428	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613428	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613428	C2ORF71	388939	HP:0001099	Fundus atrophy
OMIM:613428	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613428	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
ORPHA:664	OTC	5009	HP:0002021	Pyloric stenosis
ORPHA:664	OTC	5009	HP:0001744	Splenomegaly
ORPHA:664	OTC	5009	HP:0001987	Hyperammonemia
ORPHA:664	OTC	5009	HP:0003355	Aminoaciduria
ORPHA:664	OTC	5009	HP:0001399	Hepatic failure
ORPHA:664	OTC	5009	HP:0001943	Hypoglycemia
ORPHA:371	PFKM	5213	HP:0002149	Hyperuricemia
ORPHA:371	PFKM	5213	HP:0002486	Myotonia
ORPHA:371	PFKM	5213	HP:0009051	Increased muscle glycogen content
ORPHA:371	PFKM	5213	HP:0003202	Skeletal muscle atrophy
ORPHA:371	PFKM	5213	HP:0001324	Muscle weakness
ORPHA:371	PFKM	5213	HP:0001903	Anemia
OMIM:300635	XIAP	331	HP:0004313	Decreased antibody level in blood
OMIM:300635	XIAP	331	HP:0001417	X-linked inheritance
OMIM:151050	PTDSS1	9791	HP:0001511	Intrauterine growth retardation
OMIM:151050	PTDSS1	9791	HP:0000316	Hypertelorism
OMIM:151050	PTDSS1	9791	HP:0002342	Intellectual disability, moderate
OMIM:151050	PTDSS1	9791	HP:0006152	Proximal symphalangism of hands
OMIM:151050	PTDSS1	9791	HP:0000041	Chordee
OMIM:151050	PTDSS1	9791	HP:0002750	Delayed skeletal maturation
OMIM:151050	PTDSS1	9791	HP:0000164	Abnormality of the dentition
OMIM:151050	PTDSS1	9791	HP:0001187	Hyperextensibility of the finger joints
OMIM:151050	PTDSS1	9791	HP:0000885	Broad ribs
OMIM:151050	PTDSS1	9791	HP:0001274	Agenesis of corpus callosum
OMIM:151050	PTDSS1	9791	HP:0008070	Sparse hair
OMIM:151050	PTDSS1	9791	HP:0004482	Relative macrocephaly
OMIM:151050	PTDSS1	9791	HP:0001508	Failure to thrive
OMIM:151050	PTDSS1	9791	HP:0000916	Broad clavicles
OMIM:151050	PTDSS1	9791	HP:0002007	Frontal bossing
OMIM:151050	PTDSS1	9791	HP:0001043	Prominent scalp veins
OMIM:151050	PTDSS1	9791	HP:0003041	Humeroradial synostosis
OMIM:151050	PTDSS1	9791	HP:0001249	Intellectual disability
OMIM:151050	PTDSS1	9791	HP:0000006	Autosomal dominant inheritance
OMIM:151050	PTDSS1	9791	HP:0000023	Inguinal hernia
OMIM:151050	PTDSS1	9791	HP:0002987	Elbow flexion contracture
OMIM:151050	PTDSS1	9791	HP:0000400	Macrotia
OMIM:151050	PTDSS1	9791	HP:0000270	Delayed cranial suture closure
OMIM:151050	PTDSS1	9791	HP:0003745	Sporadic
OMIM:151050	PTDSS1	9791	HP:0000171	Microglossia
OMIM:151050	PTDSS1	9791	HP:0000963	Thin skin
OMIM:151050	PTDSS1	9791	HP:0005019	Diaphyseal thickening
OMIM:151050	PTDSS1	9791	HP:0000028	Cryptorchidism
OMIM:151050	PTDSS1	9791	HP:0000347	Micrognathia
OMIM:151050	PTDSS1	9791	HP:0000973	Cutis laxa
OMIM:151050	PTDSS1	9791	HP:0001545	Anteriorly placed anus
OMIM:151050	PTDSS1	9791	HP:0000453	Choanal atresia
OMIM:151050	PTDSS1	9791	HP:0003015	Flared metaphysis
OMIM:151050	PTDSS1	9791	HP:0000452	Choanal stenosis
OMIM:151050	PTDSS1	9791	HP:0004322	Short stature
OMIM:151050	PTDSS1	9791	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:151050	PTDSS1	9791	HP:0005477	Progressive sclerosis of skull base
OMIM:151050	PTDSS1	9791	HP:0000047	Hypospadias
OMIM:151050	PTDSS1	9791	HP:0007678	Lacrimal duct stenosis
OMIM:151050	PTDSS1	9791	HP:0006380	Knee flexion contracture
OMIM:151050	PTDSS1	9791	HP:0000239	Large fontanelles
OMIM:151050	PTDSS1	9791	HP:0001290	Generalized hypotonia
OMIM:151050	PTDSS1	9791	HP:0000965	Cutis marmorata
OMIM:151050	PTDSS1	9791	HP:0000337	Broad forehead
OMIM:151050	PTDSS1	9791	HP:0000407	Sensorineural hearing impairment
OMIM:151050	PTDSS1	9791	HP:0001159	Syndactyly
OMIM:151050	PTDSS1	9791	HP:0011220	Prominent forehead
OMIM:612943	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:612943	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:612943	KLHL7	55975	HP:0000980	Pallor
OMIM:246650	LMF1	64788	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:246650	LMF1	64788	HP:0000007	Autosomal recessive inheritance
OMIM:300584	IKBKG	8517	HP:0002847	Impaired memory B-cell generation
OMIM:300584	IKBKG	8517	HP:0003496	Increased IgM level
OMIM:300584	IKBKG	8517	HP:0011275	Recurrent mycobacterium avium complex infections
OMIM:300584	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:300584	IKBKG	8517	HP:0001419	X-linked recessive inheritance
OMIM:300584	IKBKG	8517	HP:0004315	IgG deficiency
OMIM:300584	IKBKG	8517	HP:0002720	IgA deficiency
ORPHA:238329	AIFM1	9131	HP:0000737	Irritability
ORPHA:238329	AIFM1	9131	HP:0010994	Abnormality of the striatum
ORPHA:238329	AIFM1	9131	HP:0001290	Generalized hypotonia
ORPHA:238329	AIFM1	9131	HP:0009025	Increased connective tissue
ORPHA:238329	AIFM1	9131	HP:0002093	Respiratory insufficiency
ORPHA:238329	AIFM1	9131	HP:0003390	Sensory axonal neuropathy
ORPHA:238329	AIFM1	9131	HP:0002375	Hypokinesia
ORPHA:238329	AIFM1	9131	HP:0011343	Moderate global developmental delay
ORPHA:238329	AIFM1	9131	HP:0001308	Tongue fasciculations
ORPHA:238329	AIFM1	9131	HP:0001284	Areflexia
ORPHA:238329	AIFM1	9131	HP:0002376	Developmental regression
ORPHA:238329	AIFM1	9131	HP:0003542	Increased serum pyruvate
ORPHA:238329	AIFM1	9131	HP:0003557	Increased variability in muscle fiber diameter
ORPHA:238329	AIFM1	9131	HP:0002490	Increased CSF lactate
ORPHA:238329	AIFM1	9131	HP:0006829	Severe muscular hypotonia
ORPHA:238329	AIFM1	9131	HP:0002151	Increased serum lactate
ORPHA:238329	AIFM1	9131	HP:0003202	Skeletal muscle atrophy
ORPHA:238329	AIFM1	9131	HP:0002098	Respiratory distress
ORPHA:238329	AIFM1	9131	HP:0000750	Delayed speech and language development
ORPHA:238329	AIFM1	9131	HP:0003324	Generalized muscle weakness
